hgnc_id	symbol	name	locus_group	locus_type	status	location	location_sortable	alias_symbol	alias_name	prev_symbol	prev_name	gene_family	gene_family_id	date_approved_reserved	date_symbol_changed	date_name_changed	date_modified	entrez_id	ensembl_gene_id	vega_id	ucsc_id	ena	refseq_accession	ccds_id	uniprot_ids	pubmed_id	mgd_id	rgd_id	lsdb	cosmic	omim_id	mirbase	homeodb	snornabase	bioparadigms_slc	orphanet	pseudogene.org	horde_id	merops	imgt	iuphar	kznf_gene_catalog	mamit-trnadb	cd	lncrnadb	enzyme_id	intermediate_filament_db	rna_central_ids
HGNC:25662	AAGAB	alpha and gamma adaptin binding protein	protein-coding gene	gene with protein product	Approved	15q23	15q23	"FLJ11506|p34"						2009-07-20		2017-06-13	2017-06-13	79719	ENSG00000103591	OTTHUMG00000172246	uc002aqk.6	AL136715	NM_024666	"CCDS42050|CCDS61679"	Q6PD74	"11230166|10477754"	MGI:1914189	RGD:621601		AAGAB	614888					317366
HGNC:170	ACTR3	ARP3 actin related protein 3 homolog	protein-coding gene	gene with protein product	Approved	2q14.1	02q14.1	ARP3			"ARP3 (actin-related protein 3, yeast) homolog|ARP3 actin-related protein 3 homolog (yeast)"	"Actin related protein 2/3 complex |Actin related proteins"	"39|1436"	1999-05-17		2016-07-13	2016-07-13	10096	ENSG00000115091	OTTHUMG00000153497	uc002tkx.3	AF006083	NM_005721	"CCDS33277|CCDS63000"	P61158	9230079	MGI:1921367	RGD:71024		ACTR3	604222
HGNC:188	ADAM10	ADAM metallopeptidase domain 10	protein-coding gene	gene with protein product	Approved	15q21.3	15q21.3	"kuz|MADM|HsT18717|CD156c"			a disintegrin and metalloproteinase domain 10	"ADAM metallopeptidase domain containing|CD molecules"	"47|471"	1997-03-21		2005-08-18	2016-10-05	102	ENSG00000137845	OTTHUMG00000132633	uc002afd.3	AF009615	NM_001110	CCDS10167	O14672	"9344679|9441766"	MGI:109548	RGD:2032		ADAM10	602192					358659			M12.210		objectId:1658			CD156c
HGNC:25151	ADAT3	adenosine deaminase, tRNA specific 3	protein-coding gene	gene with protein product	Approved	19p13.3	19p13.3	TAD3	tRNA-specific adenosine deaminase 3 homolog (S. cerevisiae)		adenosine deaminase, tRNA-specific 3, TAD3 homolog (S. cerevisiae)	Adenosine deaminases acting on RNA	1303	2007-08-16		2016-03-14	2016-04-25	113179	ENSG00000213638	OTTHUMG00000154591	uc002luh.5	BC011824	NM_138422	CCDS12076	Q96EY9	12457566	MGI:1924344	RGD:1642417		ADAT3	615302					365118
HGNC:15766	ADNP	activity dependent neuroprotector homeobox	protein-coding gene	gene with protein product	Approved	20q13.13	20q13.13	"KIAA0784|ADNP1"	ADNP homeobox 1		activity-dependent neuroprotector	ZF class homeoboxes and pseudogenes	529	2001-05-31		2016-06-08	2016-06-08	23394	ENSG00000101126	OTTHUMG00000032737	uc002xvt.3	AF250860	NM_181442	CCDS13433	Q9H2P0	"9872452|11013255"	MGI:1338758	RGD:71030		ADNP	611386		8666			406010
HGNC:25901	AFAP1L2	actin filament associated protein 1 like 2	protein-coding gene	gene with protein product	Approved	10q25.3	10q25.3	"FLJ14564|Em:AC005383.4|XB130"		KIAA1914	"KIAA1914|actin filament associated protein 1-like 2"	Pleckstrin homology domain containing	682	2004-02-18	2007-02-07	2015-11-26	2016-10-05	84632	ENSG00000169129	OTTHUMG00000019086	uc001lbn.5	BC024314	NM_032550	"CCDS31286|CCDS31287"	Q8N4X5	"11572484|17412687"	MGI:2147658	RGD:1310668		AFAP1L2	612420
HGNC:338	AGTR2	angiotensin II receptor type 2	protein-coding gene	gene with protein product	Approved	Xq23	Xq23	"AT2|MRX88"			angiotensin receptor 2	"X-linked mental retardation|Angiotensin receptors"	"103|221"	1992-08-25		2016-01-12	2016-10-05	186	ENSG00000180772	OTTHUMG00000022243	uc004eqh.5	AY324607	NM_000686	CCDS14569	P50052	1550596	MGI:87966	RGD:2072	Mental Retardation database|http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=AGTR2	AGTR2	300034					159921					objectId:35
HGNC:19071	ALYREF	Aly/REF export factor	protein-coding gene	gene with protein product	Approved	17q25.3	17q25.3	"ALY|BEF|ALY/REF|REF"		THOC4	THO complex 4	"RNA binding motif containing|THO complex"	"725|770"	2002-12-09	2011-12-12	2011-12-12	2016-04-25	10189	ENSG00000183684	OTTHUMG00000160470	uc002kbu.3	AF047002	NM_005782	CCDS32768	Q86V81	"11032328|15998806"	MGI:1341044	RGD:1594679			604171
HGNC:15713	ANAPC5	anaphase promoting complex subunit 5	protein-coding gene	gene with protein product	Approved	12q24.31	12q24.31	APC5				Anaphase promoting complex 	402	2001-06-01			2014-08-12	51433	ENSG00000089053	OTTHUMG00000169157	uc001uag.4	AF191339	NM_001137559	"CCDS9220|CCDS45000|CCDS81749"	Q9UJX4	9469815	MGI:1929722	RGD:1306125		ANAPC5	606948
HGNC:494	ANK3	ankyrin 3	protein-coding gene	gene with protein product	Approved	10q21.2	10q21.2		"ankyrin-3, node of Ranvier|ankyrin-G"		ankyrin 3, node of Ranvier (ankyrin G)	Ankyrin repeat domain containing	403	1994-11-22		2016-08-11	2016-10-05	288	ENSG00000151150	OTTHUMG00000018288	uc001jky.4	U13616	NM_020987	"CCDS7258|CCDS7259|CCDS55711|CCDS55712"	Q12955	7665168	MGI:88026	RGD:620157		ANK3	600465					358448
HGNC:29186	ANKRD26	ankyrin repeat domain 26	protein-coding gene	gene with protein product	Approved	10p12.1	10p12.1	KIAA1074		THC2	thrombocytopenia 2 (autosomal dominant)	Ankyrin repeat domain containing	403	2004-02-04			2018-04-21	22852	ENSG00000107890	OTTHUMG00000017851	uc009xku.2	AB028997	NM_001256053	CCDS41499	Q9UPS8	"10470851|21211618"	MGI:1917887	RGD:1310736	LRG_605|http://www.lrg-sequence.org/LRG/LRG_605	ANKRD26	610855					260545
HGNC:21732	ANTXR2	anthrax toxin receptor 2	protein-coding gene	gene with protein product	Approved	4q21.21	04q21.21	"CMG2|CMG-2|FLJ31074"	capillary morphogenesis protein 2					2003-09-25			2016-10-05	118429	ENSG00000163297	OTTHUMG00000151982	uc003hly.5	AY040326	NM_058172	"CCDS47085|CCDS47086|CCDS68733"	P58335	"11683410|12700348"	MGI:1919164	RGD:1561294		ANTXR2	608041					121369
HGNC:646	ARAF	A-Raf proto-oncogene, serine/threonine kinase	protein-coding gene	gene with protein product	Approved	Xp11.3	Xp11.3			ARAF1	v-raf murine sarcoma 3611 viral oncogene homolog 1	"Mitogen-activated protein kinase kinase kinases|RAF family"	"654|1157"	1986-01-01	2005-01-19	2014-06-26	2016-10-05	369	ENSG00000078061	OTTHUMG00000021446	uc064yvp.1	X04790	NM_001256196	"CCDS35232|CCDS59164|CCDS75970"	P10398		MGI:88065	RGD:2148	Mental Retardation database|http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ARAF	ARAF	311010										objectId:1933
HGNC:4591	ARHGAP35	Rho GTPase activating protein 35	protein-coding gene	gene with protein product	Approved	19q13.32	19q13.32	"GRF-1|p190ARhoGAP|P190A|KIAA1722|p190RhoGAP"		GRLF1	glucocorticoid receptor DNA binding factor 1	Rho GTPase activating proteins	721	1993-12-15	2011-06-07	2011-06-07	2014-11-18	2909	ENSG00000160007	OTTHUMG00000183438	uc010ekv.4	M73077	NM_004491	CCDS46127	Q9NRY4	"1894621|20675588"	MGI:1929494	RGD:1308738		ARHGAP35	605277
HGNC:18040	ARID1B	AT-rich interaction domain 1B	protein-coding gene	gene with protein product	Approved	6q25.3	06q25.3	"KIAA1235|ELD/OSA1|p250R|BAF250b|DAN15|6A3-5"			AT rich interactive domain 1B (SWI1-like)	"AT-rich interaction domain containing|Armadillo-like helical domain containing|BAF complex"	"418|1492|1604"	2004-01-28		2015-11-17	2018-04-21	57492	ENSG00000049618	OTTHUMG00000015890	uc003qqp.4	AF521671	NM_020732	"CCDS5251|CCDS55072"	Q8NFD5		MGI:1926129	RGD:708504	LRG_861|http://www.lrg-sequence.org/LRG/LRG_861	ARID1B	614556					293095
HGNC:713	ARSA	arylsulfatase A	protein-coding gene	gene with protein product	Approved	22q13.33	22q13.33		metachromatic leucodystrophy			Sulfatases	410	1986-01-01			2016-04-25	410	ENSG00000100299	OTTHUMG00000150180	uc021wse.2	X52150	NM_000487	"CCDS14100|CCDS46736"	P15289	15772092	MGI:88077	RGD:1310381		ARSA	607574					121427										3.1.6.8
HGNC:758	ASS1	argininosuccinate synthase 1	protein-coding gene	gene with protein product	Approved	9q34.11	09q34.11	CTLN1		ASS	argininosuccinate synthetase			2001-06-22	2006-08-24	2010-04-20	2016-10-05	445	ENSG00000130707	OTTHUMG00000020806	uc004bzn.4	X01630	NM_000050	CCDS6933	P00966	"3513483|852520"	MGI:88090	RGD:2163	"LOVD - Leiden Open Variation Database|http://chromium.liacs.nl/LOVD2/home.php?select_db=ASS1|The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=ASS1"	ASS1	603470					121468										6.3.4.5
HGNC:17978	B3GALT6	beta-1,3-galactosyltransferase 6	protein-coding gene	gene with protein product	Approved	1p36.33	01p36.33	beta3GalT6	beta-1,3-galactosyltransferase-6		"UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 6|UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6|UDP-Gal:betaGal beta 1,3-galactosyltransferase 6"	Beta 3-glycosyltransferases	426	2002-01-09		2016-04-26	2016-04-26	126792	ENSG00000176022	OTTHUMG00000001813	uc001adk.4	AY050570	NM_080605	CCDS13	Q96L58	11551958	MGI:2152819	RGD:1309558		B3GALT6	615291					356939
HGNC:924	B4GALT1	beta-1,4-galactosyltransferase 1	protein-coding gene	gene with protein product	Approved	9p21.1	09p21.1	beta4Gal-T1		GGTB2	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	Beta 4-glycosyltransferases	425	2001-06-22		2016-03-15	2016-10-05	2683	ENSG00000086062	OTTHUMG00000019764	uc003zsg.3	X14085	NM_001497	CCDS6535	P15291	9597550	MGI:95705	RGD:620900	Congenital Disorders of Glycosylation pages|http://www.euroglycanet.org/	B4GALT1	137060					118962										"2.4.1.133|2.4.1.38"
HGNC:13815	BCO1	beta-carotene oxygenase 1	protein-coding gene	gene with protein product	Approved	16q23.2	16q23.2	"FLJ10730|BCMO"		"BCDO|BCDO1|BCMO1"	"beta-carotene 15, 15'-dioxygenase 1|beta-carotene 15,15'-monooxygenase 1"			2000-11-13	2014-07-21	2014-07-21	2017-12-15	53630	ENSG00000135697	OTTHUMG00000137630		AF294900	NM_017429	CCDS10934	Q9HAY6	"10766819|10799297|24187135"	MGI:1926923	RGD:70981			605748					204452										1.13.11.63
HGNC:1014	BCR	BCR, RhoGEF and GTPase activating protein	protein-coding gene	gene with protein product	Approved	22q11.23	22q11.23	"D22S662|CML|PHL|ALL"		"D22S11|BCR1"	breakpoint cluster region	"Pleckstrin homology domain containing|Rho guanine nucleotide exchange factors|C2 domain containing"	"682|722|823"	1986-01-01		2016-05-13	2018-04-21	613	ENSG00000186716	OTTHUMG00000150655	uc002zww.4		NM_004327	"CCDS13806|CCDS13807"	P11274	"1657398|18070886"	MGI:88141	RGD:1307993	LRG_1112|http://www.lrg-sequence.org/LRG/LRG_1112	BCR	151410					119016					objectId:2755
HGNC:1073	BMP6	bone morphogenetic protein 6	protein-coding gene	gene with protein product	Approved	6p24.3	06p24.3	VGR1		VGR	vegetal related growth factor (TGFB-related)	"Bone morphogenetic proteins|Endogenous ligands"	"455|542"	1991-06-05		2003-10-06	2016-10-05	654	ENSG00000153162	OTTHUMG00000014217	uc003mxu.5	AF083030	NM_001718	CCDS4503	P22004	"1427904|1453478"	MGI:88182	RGD:2214		BMP6	112266					456982					ligandId:4885
HGNC:1074	BMP7	bone morphogenetic protein 7	protein-coding gene	gene with protein product	Approved	20q13.31	20q13.31	OP-1	osteogenic protein 1			"Bone morphogenetic proteins|Endogenous ligands"	"455|542"	1991-06-05		2008-05-22	2016-10-05	655	ENSG00000101144	OTTHUMG00000032812	uc010gip.2		NM_001719	CCDS13455	P18075	1427904	MGI:103302	RGD:620743		BMP7	112267					470006					ligandId:4886
HGNC:12760	BRWD1	bromodomain and WD repeat domain containing 1	protein-coding gene	gene with protein product	Approved	21q22.2	21q22.2	"FLJ11315|N143|DCAF19"		"C21orf107|WDR9"	"chromosome 21 open reading frame 107|WD repeat domain 9"	"WD repeat domain containing|DDB1 and CUL4 associated factors|Bromodomain containing"	"362|498|1232"	2000-05-23	2005-05-13	2005-05-13	2015-09-11	54014	ENSG00000185658	OTTHUMG00000066030	uc002yxk.3	AJ002572	NM_033656	"CCDS13662|CCDS13663|CCDS33557"	Q9NSI6		MGI:1890651	RGD:1309030		BRWD1	617824										objectId:2732
HGNC:1151	BUB3	BUB3, mitotic checkpoint protein	protein-coding gene	gene with protein product	Approved	10q26.13	10q26.13	BUB3L			"BUB3 (budding uninhibited by benzimidazoles 3, yeast) homolog|budding uninhibited by benzimidazoles 3 homolog (yeast)"	WD repeat domain containing	362	1999-02-17		2016-03-18	2016-10-05	9184	ENSG00000154473	OTTHUMG00000019197	uc001lhe.3	AF053304	NM_001007793	"CCDS7635|CCDS31306"	O43684	9660858	MGI:1343463	RGD:1306654		BUB3	603719					367095
HGNC:24338	C1GALT1C1	C1GALT1 specific chaperone 1	protein-coding gene	gene with protein product	Approved	Xq24	Xq24	"COSMC|C1GALT2"						2005-01-26		2015-11-11	2015-11-11	29071	ENSG00000171155	OTTHUMG00000022305	uc004esz.4	AJ238398	NM_152692	CCDS14602	Q96EU7	"11042152|12361956"	MGI:1913493	RGD:1311230	Mental Retardation database|http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=C1GALT1C1	C1GALT1C1	300611
HGNC:1346	C7	complement C7	protein-coding gene	gene with protein product	Approved	5p13.1	05p13.1				complement component 7	"Complement system|Sushi domain containing"	"492|1179"	2001-06-22		2016-08-10	2018-04-21	730	ENSG00000112936	OTTHUMG00000150340	uc003jmh.5	J03507	NM_000587	CCDS47201	P10643		MGI:88235	RGD:620318	"C7base: Mutation registry for C7 deficiency|http://structure.bmc.lu.se/idbase/C7base/index2.html|LRG_30|http://www.lrg-sequence.org/LRG/LRG_30"	C7	217070					160112
HGNC:1394	CACNA1G	calcium voltage-gated channel subunit alpha1 G	protein-coding gene	gene with protein product	Approved	17q21.33	17q21.33	"Cav3.1|NBR13"			calcium channel, voltage-dependent, T type, alpha 1G subunit	Calcium voltage-gated channel alpha1 subunits	1512	1999-01-08		2016-02-04	2016-10-05	8913	ENSG00000006283	OTTHUMG00000162180	uc002irk.3	AC004590	NM_018896	"CCDS45730|CCDS45731|CCDS45732|CCDS45733|CCDS45734|CCDS45735|CCDS45736|CCDS45737|CCDS54142|CCDS54143|CCDS54144|CCDS54145|CCDS54146|CCDS58565|CCDS58566|CCDS58567|CCDS58568|CCDS58569|CCDS58570|CCDS58571|CCDS58572|CCDS58573|CCDS58574|CCDS58575|CCDS58576"	O43497	"9495342|16382099"	MGI:1201678	RGD:68942		CACNA1G	604065					460876					objectId:535
HGNC:1399	CACNA2D1	calcium voltage-gated channel auxiliary subunit alpha2delta 1	protein-coding gene	gene with protein product	Approved	7q21.11	07q21.11	lncRNA-N3		"CACNL2A|CACNA2|MHS3|LINC01112"	"long intergenic non-protein coding RNA 1112|calcium channel, voltage-dependent, alpha 2/delta subunit 1"	Calcium voltage-gated channel auxiliary alpha2delta subunits	1514	1992-03-27		2016-02-04	2018-04-21	781	ENSG00000153956	OTTHUMG00000023622	uc003uhr.2	M76559	NM_000722	"CCDS5598|CCDS78253"	P54289	8188232	MGI:88295	RGD:2247	LRG_437|http://www.lrg-sequence.org/LRG/LRG_437	CACNA2D1	114204					300208
HGNC:1455	CALR	calreticulin	protein-coding gene	gene with protein product	Approved	19p13.13	19p13.13	"RO|SSA|cC1qR|CRT|FLJ26680"	"Sicca syndrome antigen A (autoantigen Ro; calreticulin)|autoantigen Ro"					1990-09-10			2018-04-21	811	ENSG00000179218	OTTHUMG00000180574	uc002mvu.3	M84739	NM_004343	CCDS12288	P27797	2365822	MGI:88252	RGD:620288	LRG_828|http://www.lrg-sequence.org/LRG/LRG_828	CALR	109091					391684
HGNC:18111	CCDC50	coiled-coil domain containing 50	protein-coding gene	gene with protein product	Approved	3q28	03q28	Ymer		"C3orf6|DFNA44"	deafness, autosomal dominant 44	Deafness associated genes	1152	2002-01-31	2005-12-23		2014-11-19	152137	ENSG00000152492	OTTHUMG00000156177	uc003fsv.4	AJ416916	NM_174908	"CCDS33912|CCDS33913"	Q8IVM0	"16803894|17503326"	MGI:1914751	RGD:727841		CCDC50	611051					159308
HGNC:1589	CCNE1	cyclin E1	protein-coding gene	gene with protein product	Approved	19q12	19q12		"cyclin Es|cyclin Et"	CCNE		Cyclins	473	1991-12-10			2014-11-19	898	ENSG00000105173	OTTHUMG00000177626	uc002nsn.4	M73812	NM_001238	CCDS12419	P24864	1833066	MGI:88316	RGD:2294		CCNE1	123837
HGNC:1628	CD14	CD14 molecule	protein-coding gene	gene with protein product	Approved	5q31.3	05q31.3				CD14 antigen	"CD molecules|Scavenger receptors"	"471|1253"	1988-05-31		2006-03-28	2014-11-18	929	ENSG00000170458	OTTHUMG00000129507	uc021yej.1		NM_000591	CCDS4232	P08571	"2472171|2462937"	MGI:88318	RGD:620588		CD14	158120													CD14
HGNC:1649	CD24P4	CD24 molecule pseudogene 4	pseudogene	pseudogene	Approved	Yq11.222	Yq11.222			CD24L4	"CD24 antigen-like 4|CD24 molecule-like 4|CD24 molecule-like 4 pseudogene"			1994-09-07	2010-10-11	2010-10-11	2014-11-19	938	ENSG00000185275	OTTHUMG00000036500			NG_006012			7959762
HGNC:16961	CD226	CD226 molecule	protein-coding gene	gene with protein product	Approved	18q22.2	18q22.2	"DNAM-1|DNAM1|PTA1|TLiSA1"			CD226 antigen	"CD molecules|V-set domain containing"	"471|590"	2003-10-02		2006-03-28	2016-10-05	10666	ENSG00000150637	OTTHUMG00000132809	uc002lkm.6	U56102	NM_006566	"CCDS11997|CCDS77197"	Q15762	8673704	MGI:3039602	RGD:1311513		CD226	605397													CD226
HGNC:17408	CDC42EP5	CDC42 effector protein 5	protein-coding gene	gene with protein product	Approved	19q13.42	19q13.42	"CEP5|Borg3"	binder of Rho GTPases 3		CDC42 effector protein (Rho GTPase binding) 5	CDC42 effector proteins	1164	2003-12-02		2016-01-07	2016-01-07	148170	ENSG00000167617	OTTHUMG00000065699	uc002qfz.3	BC024327	NM_145057	CCDS12896	Q6NZY7		MGI:1929745	RGD:1308382		CDC42EP5	609171
HGNC:1739	CDC45	cell division cycle 45	protein-coding gene	gene with protein product	Approved	22q11.21	22q11.21		human CDC45	"CDC45L2|CDC45L"	"CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like|CDC45 cell division cycle 45-like (S. cerevisiae)|cell division cycle 45 homolog (S. cerevisiae)"			1998-09-08	2010-03-24	2013-01-17	2014-11-19	8318	ENSG00000093009	OTTHUMG00000150386	uc002zpr.5	AF053074	NM_003504	"CCDS13762|CCDS54499|CCDS54500"	O75419	"9660782|9724329|17608804"	MGI:1338073	RGD:1590928		CDC45	603465					461769
HGNC:5394	CFI	complement factor I	protein-coding gene	gene with protein product	Approved	4q25	04q25	"FI|C3b-INA|KAF"	"Konglutinogen-activating factor|C3b-inactivator"	IF	I factor (complement)	"Complement system|Scavenger receptor cysteine rich domain containing"	"492|1404"	1986-01-01	2006-02-10	2006-02-10	2018-04-21	3426	ENSG00000205403	OTTHUMG00000161109	uc003hzr.5	J02770	NM_000204	"CCDS34049|CCDS82945|CCDS82946"	P05156	2956252	MGI:105937	RGD:620429	"CFIbase: Mutation registry for Factor I deficiency (previously known as IFbase)|http://structure.bmc.lu.se/idbase/CFIbase/|LRG_48|http://www.lrg-sequence.org/LRG/LRG_48"	CFI	217030					119371			S01.199							3.4.21.45
HGNC:20311	CHAMP1	chromosome alignment maintaining phosphoprotein 1	protein-coding gene	gene with protein product	Approved	13q34	13q34	"CAMP|CHAMP"	chromosome alignment-maintaining phosphoprotein	"C13orf8|ZNF828"	"chromosome 13 open reading frame 8|zinc finger protein 828"	Zinc fingers C2H2-type	28	2003-01-24	2011-10-07	2011-10-07	2015-03-03	283489	ENSG00000198824	OTTHUMG00000017404	uc001vuv.4	AK074894	NM_032436	CCDS9545	Q96JM3	21063390	MGI:1196398	RGD:1311283			616327					460746
HGNC:8740	CHMP1A	charged multivesicular body protein 1A	protein-coding gene	gene with protein product	Approved	16q24.3	16q24.3	"KIAA0047|CHMP1|Vps46A"		"PRSM1|PCOLN3"	"procollagen (type III) N-endopeptidase|chromatin modifying protein 1A"	"Charged multivesicular body proteins|ESCRT-III associated factors"	"482|1119"	1993-05-03	2007-03-20	2011-09-21	2015-09-07	5119	ENSG00000131165	OTTHUMG00000169521	uc002fnu.5	U58048	NM_002768	CCDS45552	Q9HD42	"11559748|11559747"	MGI:1920159	RGD:1311083		CHMP1A	164010					327388
HGNC:1943	CHN1	chimerin 1	protein-coding gene	gene with protein product	Approved	2q31.1	02q31.1	"RhoGAP2|ARHGAP2|n-chimerin"	"Chimerin 1 (GTPase-activating protein, rho, 2)|chimaerin 1"	"CHN|DURS2"	"Duane retraction syndrome 2|chimerin (chimaerin) 1"	"Rho GTPase activating proteins|SH2 domain containing"	"721|741"	1991-07-12		2012-10-17	2016-10-05	1123	ENSG00000128656	OTTHUMG00000154225	uc002uji.4		NM_001822	"CCDS46454|CCDS46455|CCDS56147"	P15882	"2299665|15013773|18653847"	MGI:1915674	RGD:620139		CHN1	118423					182553
HGNC:24579	CIB2	calcium and integrin binding family member 2	protein-coding gene	gene with protein product	Approved	15q25.1	15q25.1	KIP2		"DFNB48|USH1J"	"deafness, autosomal recessive 48|Usher syndrome 1J (autosomal recessive)"	"EF-hand domain containing|Deafness associated genes"	"863|1152"	2004-04-20			2016-10-05	10518	ENSG00000136425	OTTHUMG00000143731	uc002bdb.3	BC047381	NM_006383	"CCDS10296|CCDS61722|CCDS61723"	O75838	"9931475|23023331"	MGI:1929293	RGD:1308718		CIB2	605564					316333
HGNC:7067	CIITA	class II major histocompatibility complex transactivator	protein-coding gene	gene with protein product	Approved	16p13.13	16p13.13	"C2TA|NLRA"	"NLR family, acid domain containing|nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"	MHC2TA	"MHC class II transactivator|class II, major histocompatibility complex, transactivator"	NLR family	666	1997-06-12	2005-08-12	2016-07-14	2018-04-21	4261	ENSG00000179583	OTTHUMG00000129753	uc002dai.5	U18259	NM_000246	"CCDS10544|CCDS66943|CCDS73826"	P33076	8402893	MGI:108445	RGD:619813	"CIITAbase: Mutation registry for MHCII transactivating protein deficiency (previously known as MHC2TAbase)|http://structure.bmc.lu.se/idbase/CIITAbase/|LRG_49|http://www.lrg-sequence.org/LRG/LRG_49"	CIITA	600005					119442					objectId:1767
HGNC:1987	CITED2	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2	protein-coding gene	gene with protein product	Approved	6q24.1	06q24.1	MRG1			Cbp/p300-interacting transactivator, with Glu/Asp rich carboxy-terminal domain, 2			1999-06-11		2016-02-24	2016-10-05	10370	ENSG00000164442	OTTHUMG00000015691	uc003qip.3	U65093	NM_001168388	"CCDS5195|CCDS75530"	Q99967	"8901575|10552932"	MGI:1306784	RGD:620112		CITED2	602937					240691
HGNC:2020	CLCN2	chloride voltage-gated channel 2	protein-coding gene	gene with protein product	Approved	3q27.1	03q27.1	"CLC2|EJM6|ClC-2"			"chloride channel 2|chloride channel, voltage-sensitive 2"	Chloride voltage-gated channels	302	1994-01-28		2016-02-04	2016-02-04	1181	ENSG00000114859	OTTHUMG00000156747	uc003foi.4	S77770	NM_001171087	"CCDS3263|CCDS54690|CCDS54691|CCDS54692"	P51788	7795595	MGI:105061	RGD:2361		CLCN2	600570					226047					objectId:699
HGNC:2300	CPB2	carboxypeptidase B2	protein-coding gene	gene with protein product	Approved	13q14.13	13q14.13	"CPU|PCPB|TAFI"	"thrombin-activatable fibrinolysis inhibitor|carboxypeptidase U|plasma carboxypeptidase B|carboxypeptidase R"		"carboxypeptidase B2 (plasma, carboxypeptidase U)|carboxypeptidase B2 (plasma)"	M14 carboxypeptidases	1321	1992-04-10		2015-12-16	2016-10-05	1361	ENSG00000080618	OTTHUMG00000016867	uc001vaw.4	M75106	NM_001872	"CCDS9401|CCDS73568"	Q96IY4	"1939207|1427879"	MGI:1891837	RGD:71035		CPB2	603101								M14.009		objectId:1594
HGNC:14630	CRELD1	cysteine rich with EGF like domains 1	protein-coding gene	gene with protein product	Approved	3p25.3	03p25.3			AVSD2	"atrioventricular septal defect 2|cysteine-rich with EGF-like domains 1|cysteine rich with EGF-like domains 1"			2001-02-16		2016-01-21	2016-01-21	78987	ENSG00000163703	OTTHUMG00000128653	uc003buh.3	AF452623	NM_015513	"CCDS2593|CCDS33693"	Q96HD1	"10922384|12137942"	MGI:2152539	RGD:1309412		CRELD1	607170					120819
HGNC:2397	CRYBB1	crystallin beta B1	protein-coding gene	gene with protein product	Approved	22q12.1	22q12.1				crystallin, beta B1	Beta-gamma crystallins	1359	1994-08-18		2015-11-12	2015-11-12	1414	ENSG00000100122	OTTHUMG00000150980	uc003acy.2		NM_001887	CCDS13840	P53674	"8575764|12360425"	MGI:104992	RGD:2416	LOVD - Leiden Open Variation Database|http://grenada.lumc.nl/LOVD2/eye/home.php?select_db=CRYBB1	CRYBB1	600929					123359
HGNC:2411	CRYGD	crystallin gamma D	protein-coding gene	gene with protein product	Approved	2q33.3	02q33.3			CRYG4	crystallin, gamma D	Beta-gamma crystallins	1359	1986-01-01		2015-11-12	2015-11-12	1421	ENSG00000118231	OTTHUMG00000132944	uc002vcn.5		NM_006891	CCDS2378	P07320		MGI:88524	RGD:2422	LOVD - Leiden Open Variation Database|http://grenada.lumc.nl/LOVD2/eye/home.php?select_db=CRYGD	CRYGD	123690					120852
HGNC:2459	CSNK2A2	casein kinase 2 alpha 2	protein-coding gene	gene with protein product	Approved	16q21	16q21	"CSNK2A1|CK2alpha'"	casein kinase 2 alpha'		casein kinase 2, alpha prime polypeptide			1992-02-13		2016-01-21	2016-01-21	1459	ENSG00000070770	OTTHUMG00000133488	uc002enc.4	M55268	NM_001896	CCDS10794	P19784	"2174700|1766873"	MGI:88547	RGD:1306882		CSNK2A2	115442					470142					objectId:1550
HGNC:2498	CTDP1	CTD phosphatase subunit 1	protein-coding gene	gene with protein product	Approved	18q23	18q23	FCP1			CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	CTD family phosphatases	1041	1999-02-09		2015-11-06	2018-04-21	9150	ENSG00000060069	OTTHUMG00000132920	uc002lnh.3	AF081287	NM_004715	"CCDS12017|CCDS12018|CCDS74239"	Q9Y5B0	"9405607|9765293"	MGI:1926953	RGD:1311755	"Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_236|http://www.lrg-sequence.org/LRG/LRG_236"	CTDP1	604927					120873
HGNC:2553	CUL3	cullin 3	protein-coding gene	gene with protein product	Approved	2q36.2	02q36.2					Cullins	1032	1998-10-29			2014-11-19	8452	ENSG00000036257	OTTHUMG00000133167	uc002vny.4	U58089	NM_001257197	"CCDS2462|CCDS58751"	Q13618	"8681378|17192413"	MGI:1347360	RGD:1308190		CUL3	603136					303805
HGNC:2578	CYBB	cytochrome b-245 beta chain	protein-coding gene	gene with protein product	Approved	Xp21.1-p11.4	Xp21.1-p11.4	"GP91-PHOX|NOX2"	NADPH oxidase 2	CGD	"chronic granulomatous disease|cytochrome b-245, beta polypeptide"			1986-01-01		2016-05-16	2018-04-21	1536	ENSG00000165168	OTTHUMG00000033175	uc004ddr.3	X04011	NM_000397	CCDS14242	P04839		MGI:88574	RGD:620574	"CYBBbase: Mutation registry for X-linked chronic granulomatous disease (previously known as X-CDGbase)|http://structure.bmc.lu.se/idbase/CYBBbase/|LRG_53|http://www.lrg-sequence.org/LRG/LRG_53"	CYBB	300481					120935
HGNC:2610	CYP2A6	cytochrome P450 family 2 subfamily A member 6	protein-coding gene	gene with protein product	Approved	19q13.2	19q13.2	"CPA6|CYP2A"		CYP2A3	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6|cytochrome P450, family 2, subfamily A, polypeptide 6"	Cytochrome P450 family 2	1001	1994-12-20		2015-12-09	2015-12-09	1548	ENSG00000255974	OTTHUMG00000182713	uc002opl.4	AF182275	NM_000762	CCDS12568	P11509	"7668294|2748347"	"MGI:88596|MGI:88597"		Human Cytochrome P450 (CYP) Allele Nomenclature Committee|http://www.cypalleles.ki.se/	CYP2A6	122720										objectId:1321
HGNC:2666	DAG1	dystroglycan 1	protein-coding gene	gene with protein product	Approved	3p21.31	03p21.31	"A3a|156DAG|AGRNR|DAG"	"alpha-dystroglycan|dystrophin-associated glycoprotein-1|beta-dystroglycan"		dystroglycan 1 (dystrophin-associated glycoprotein 1)			1997-07-22		2015-11-19	2018-04-21	1605	ENSG00000173402	OTTHUMG00000156869	uc021wxz.1	L19711	NM_001165928	CCDS2799	Q14118	"7774920|1741056"	MGI:101864	RGD:621890	"Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=DAG1|LRG_854|http://www.lrg-sequence.org/LRG/LRG_854"	DAG1	128239					280347			S72.001
HGNC:17364	DBF4	DBF4 zinc finger	protein-coding gene	gene with protein product	Approved	7q21.12	07q21.12	"ASK|chif|ZDBF1|DBF4A"	"activator of S phase kinase|chiffon homolog (Drosophila)|zinc finger, DBF-type containing 1|DBF4 zinc finger A"		DBF4 homolog (S. cerevisiae)	Zinc fingers DBF-type	75	2005-11-15		2014-02-17	2016-10-05	10926	ENSG00000006634	OTTHUMG00000131034	uc003ujf.1	AF160876	NM_006716	CCDS5611	Q9UBU7	"10373557|10517317"	MGI:1351328	RGD:1305854		DBF4	604281
HGNC:29284	DIP2B	disco interacting protein 2 homolog B	protein-coding gene	gene with protein product	Approved	12q13.12	12q13.12	"KIAA1463|FLJ34278"			DIP2 disco-interacting protein 2 homolog B (Drosophila)			2006-01-13		2015-11-23	2015-11-23	57609	ENSG00000066084	OTTHUMG00000169475	uc001rwv.4	AB040896	NM_173602	CCDS31799	Q9P265		MGI:2145977	RGD:1305671		DIP2B	611379					470194
HGNC:2980	DNMT3L	DNA methyltransferase 3 like	protein-coding gene	gene with protein product	Approved	21q22.3	21q22.3	MGC1090	cytosine-5-methyltransferase 3-like protein		DNA (cytosine-5-)-methyltransferase 3-like			2000-05-23		2016-06-21	2016-06-21	29947	ENSG00000142182	OTTHUMG00000086914	uc002zeh.2	AF194032	NM_013369	"CCDS13705|CCDS46650"	Q9UJW3	10857753	MGI:1859287	RGD:1303239		DNMT3L	606588
HGNC:2990	DOK1	docking protein 1	protein-coding gene	gene with protein product	Approved	2p13.1	02p13.1	p62dok	downstream of tyrosine kinase 1		"docking protein 1, 62kD (downstream of tyrosine kinase 1)|docking protein 1, 62kDa (downstream of tyrosine kinase 1)"			1997-07-25		2015-11-10	2016-10-05	1796	ENSG00000115325	OTTHUMG00000129956	uc002sms.4	U70987	NM_001381	"CCDS1954|CCDS56125|CCDS82474"	Q99704	"9008160|9790776|15546884"	MGI:893587	RGD:1309499		DOK1	602919
HGNC:3026	DRD5	dopamine receptor D5	protein-coding gene	gene with protein product	Approved	4p16.1	04p16.1	DRD1B		DRD1L2		Dopamine receptors	181	1991-06-05			2015-08-25	1816	ENSG00000169676	OTTHUMG00000128489	uc003gmb.5	X58454	NM_000798	CCDS3405	P21918	1774076	MGI:94927	RGD:2523		DRD5	126453					470240					objectId:218
HGNC:3057	DTNA	dystrobrevin alpha	protein-coding gene	gene with protein product	Approved	18q12.1	18q12.1	"D18S892E|DTN|DTN-1|DTN-2|DTN-3|DRP3"	dystrophin-related protein 3		dystrobrevin, alpha	Zinc fingers ZZ-type	91	1998-02-11		2015-12-01	2018-04-21	1837	ENSG00000134769	OTTHUMG00000132309	uc002kyb.6	U84540	NM_001390	"CCDS11908|CCDS11909|CCDS42426|CCDS45848|CCDS56060|CCDS56061|CCDS56062|CCDS56063|CCDS59309|CCDS59310|CCDS59311|CCDS59312|CCDS59313|CCDS59314"	Q9Y4J8	"8081380|15834686"	MGI:106039	RGD:1561985	"Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/DTNA|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=DTNA|LRG_756|http://www.lrg-sequence.org/LRG/LRG_756"	DTNA	601239					121219
HGNC:3133	EBP	emopamil binding protein (sterol isomerase)	protein-coding gene	gene with protein product	Approved	Xp11.23	Xp11.23	"CPX|CPXD|CHO2"	"3-beta-hydroxysteroid-delta-8,delta-7-isomerase|Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)|sterol 8-isomerase"	CDPX2	emopamil-binding protein (sterol isomerase)			2000-02-21		2001-11-28	2016-10-05	10682	ENSG00000147155	OTTHUMG00000034482	uc004djx.5	Z37986	NM_006579	CCDS14300	Q15125	"7706302|8938429"	MGI:107822	RGD:620957		EBP	300205					121250
HGNC:3178	EDN3	endothelin 3	protein-coding gene	gene with protein product	Approved	20q13.32	20q13.32	ET3				Endogenous ligands	542	1989-09-06			2016-10-05	1908	ENSG00000124205	OTTHUMG00000032867	uc002yaq.4	X52001	NM_000114	"CCDS13477|CCDS13478|CCDS13479|CCDS77597"	P14138		MGI:95285	RGD:2534	LOVD - Leiden Open Variation Database|http://grenada.lumc.nl/LOVD2/WS/home.php?select_db=EDN3	EDN3	131242					121284					ligandId:1004
HGNC:3179	EDNRA	endothelin receptor type A	protein-coding gene	gene with protein product	Approved	4q31.22-q31.23	04q31.22-q31.23	"ET-A|ETA-R|hET-AR"				Endothelin receptors	225	1992-02-13			2018-03-01	1909	ENSG00000151617	OTTHUMG00000161354	uc003iky.4	D90348	NM_001166055	"CCDS3769|CCDS54810|CCDS58927"	P25101	1659806	MGI:105923	RGD:2535		EDNRA	131243					448610					objectId:219
HGNC:3192	EEF1A2	eukaryotic translation elongation factor 1 alpha 2	protein-coding gene	gene with protein product	Approved	20q13.33	20q13.33	"EEF1AL|HS1"		"STNL|STN"	"statin-like|statin"			1995-08-15			2016-10-05	1917	ENSG00000101210	OTTHUMG00000033076	uc002yfe.3	AF163763	NM_001958	CCDS13522	Q05639	"8354261|8812466"	MGI:1096317	RGD:3781		EEF1A2	602959					446538
HGNC:24650	EHMT1	euchromatic histone lysine methyltransferase 1	protein-coding gene	gene with protein product	Approved	9q34.3	09q34.3	"Eu-HMTase1|FLJ12879|KIAA1876|bA188C12.1|KMT1D|FLJ40292"		EHMT1-IT1	"euchromatic histone methyltransferase 1|EHMT1 intronic transcript 1"	"Ankyrin repeat domain containing|Lysine methyltransferases|SET domain containing"	"403|487|1399"	2004-06-01		2016-05-04	2017-08-16	79813	ENSG00000181090	OTTHUMG00000020995	uc011mfc.3	AY083210	NM_024757	"CCDS56595|CCDS7050"	Q9H9B1	"11347906|12004135"	MGI:1924933	RGD:1307588		EHMT1	607001					226051					objectId:2651					2.1.1.43
HGNC:18683	EIF4A3	eukaryotic translation initiation factor 4A3	protein-coding gene	gene with protein product	Approved	17q25.3	17q25.3	"KIAA0111|EIF4AIII|Fal1"		DDX48	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 48|eukaryotic translation initiation factor 4A, isoform 3"	"DEAD-box helicases|Exon junction complex|Spliceosomal Bact complex|Spliceosomal P complex"	"499|1238|1508|1516"	2003-06-13	2006-11-27	2010-02-10	2017-05-26	9775	ENSG00000141543	OTTHUMG00000177538	uc002jxs.3	BC004386	NM_014740	CCDS11767	P38919	"10623621|14730019"	MGI:1923731	RGD:1591139		EIF4A3	608546					390756
HGNC:14198	ELAC2	elaC ribonuclease Z 2	protein-coding gene	gene with protein product	Approved	17p12	17p12	"FLJ10530|HPC2"	tRNase Z (long form)		"elaC (E. coli) homolog 2|elaC homolog 2 (E. coli)"			2000-12-14		2013-05-24	2016-10-05	60528	ENSG00000006744	OTTHUMG00000058764	uc002gnz.5	AF304370	NM_001165962	"CCDS11164|CCDS54093"	Q9BQ52	"10986046|16636667|21559454"	MGI:1890496	RGD:628882		ELAC2	605367					121513										3.1.26.11
HGNC:3327	ELN	elastin	protein-coding gene	gene with protein product	Approved	7q11.23	07q11.23	"WBS|WS|SVAS"	"tropoelastin|supravalvular aortic stenosis|Williams-Beuren syndrome"					1986-01-01		2008-08-01	2016-10-05	2006	ENSG00000049540	OTTHUMG00000150229	uc003tzn.5		NM_000501	"CCDS5562|CCDS43598|CCDS43599|CCDS47611|CCDS47612|CCDS64673|CCDS64674|CCDS64675|CCDS64676|CCDS64677|CCDS64678|CCDS75616|CCDS75617"	P15502	8096434	MGI:95317	RGD:67394		ELN	130160					121517
HGNC:3413	EPM2A	EPM2A, laforin glucan phosphatase	protein-coding gene	gene with protein product	Approved	6q24.3	06q24.3	"LDE|LD"			"epilepsy, progressive myoclonus type 2, Lafora disease (laforin)|epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)"	Atypical dual specificity phosphatases	896	1998-10-01		2016-10-14	2016-10-14	7957	ENSG00000112425	OTTHUMG00000015747	uc003qkw.4	AF284580	NM_001018041	CCDS5206	"B3EWF7|O95278"	"9222970|7485240"	MGI:1341085	RGD:71047		EPM2A	607566					121577
HGNC:3443	EREG	epiregulin	protein-coding gene	gene with protein product	Approved	4q13.3	04q13.3	ER						1998-02-11			2016-10-05	2069	ENSG00000124882	OTTHUMG00000130005	uc003hie.2	D30783	NM_001432	CCDS3564	O14944	9337852	MGI:107508	RGD:620299		EREG	602061										ligandId:4918
HGNC:21555	EYS	eyes shut homolog (Drosophila)	protein-coding gene	gene with protein product	Approved	6q12	06q12	"dJ1018A4.2|bA166P24.2|SPAM|bA307F22.3|dJ303F19.1|bA74E24.1"		"C6orf180|EGFL11|RP25|EGFL10|C6orf178|C6orf179"	"chromosome 6 open reading frame 180|EGF-like-domain, multiple 11|retinitis pigmentosa 25 (autosomal recessive)|EGF-like-domain, multiple 10|chromosome 6 open reading frame 178|chromosome 6 open reading frame 179"			2003-11-26	2008-10-20	2008-10-20	2014-11-19	346007	ENSG00000188107	OTTHUMG00000014971	uc011dxu.1		XM_294050	"CCDS4967|CCDS47445|CCDS47446|CCDS78156"	Q5T1H1	"18836446|18976725"				EYS	612424					169936
HGNC:3588	FANCG	Fanconi anemia complementation group G	protein-coding gene	gene with protein product	Approved	9p13.3	09p13.3	FAG	"DNA repair protein XRCC9|X-ray repair, complementing defective, in Chinese hamster, 9|X-ray repair complementing defective repair in Chinese hamster cells 9"	XRCC9		Fanconi anemia complementation groups	548	1998-08-26		2015-11-05	2018-04-21	2189	ENSG00000221829	OTTHUMG00000019850	uc003zwb.1	AJ007669	NM_004629	CCDS6574	O15287	"9256465|9382107"	MGI:1926471	RGD:1587477	"Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/|Fanconi anemia database|http://chromium.liacs.nl/LOVD2/FANC/home.php?select_db=FANCG|LRG_499|http://www.lrg-sequence.org/LRG/LRG_499"	FANCG	602956					121722
HGNC:23168	FANCM	Fanconi anemia complementation group M	protein-coding gene	gene with protein product	Approved	14q21.2	14q21.2	FAAP250		KIAA1596	KIAA1596	"Fanconi anemia complementation groups|RNA helicases"	"548|1168"	2003-11-21	2005-09-01	2015-11-05	2018-04-21	57697	ENSG00000187790	OTTHUMG00000170807	uc001wwd.5	AK001672	XM_048128	"CCDS32070|CCDS76677|CCDS81802"	Q8IYD8	"10997877|16116422"	MGI:2442306	RGD:1307897	"Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi|Fanconi anemia database|http://chromium.liacs.nl/LOVD2/FANC/home.php?select_db=FANCM|LRG_502|http://www.lrg-sequence.org/LRG/LRG_502"	FANCM	609644					121730
HGNC:3602	FBLN5	fibulin 5	protein-coding gene	gene with protein product	Approved	14q32.12	14q32.12	"EVEC|UP50|DANCE|ARMD3"				Fibulins	556	1999-06-25			2018-04-21	10516	ENSG00000140092	OTTHUMG00000171122	uc001xzx.5	AJ133490	NM_006329	CCDS9898	Q9UBX5	10640802	MGI:1346091	RGD:2594	LRG_364|http://www.lrg-sequence.org/LRG/LRG_364	FBLN5	604580					121746
HGNC:3687	FGF9	fibroblast growth factor 9	protein-coding gene	gene with protein product	Approved	13q12.11	13q12.11		glia-activating factor		fibroblast growth factor 9 (glia-activating factor)	Endogenous ligands	542	1995-08-15		2013-06-18	2016-10-05	2254	ENSG00000102678	OTTHUMG00000017412	uc001uog.3	D14838	NM_002010	CCDS9298	P31371	8321227	MGI:104723	RGD:2610		FGF9	600921					201587					ligandId:4930
HGNC:3763	FLT1	fms related tyrosine kinase 1	protein-coding gene	gene with protein product	Approved	13q12.3	13q12.3	VEGFR1	"vascular endothelial growth factor receptor 1|vascular permeability factor receptor"	FLT	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)|fms-related tyrosine kinase 1"	"Receptor Tyrosine Kinases|I-set domain containing|Immunoglobulin like domain containing"	"321|593|594"	1986-01-01		2016-01-14	2018-04-21	2321	ENSG00000102755	OTTHUMG00000016648	uc001usb.4	AF063657	NM_002019	"CCDS9330|CCDS53860|CCDS53861|CCDS73556"	P17948	2158038	MGI:95558	RGD:2621	"The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=FLT1|LRG_425|http://www.lrg-sequence.org/LRG/LRG_425"	FLT1	165070										objectId:1812					2.7.10.1
HGNC:3974	FTCD	formimidoyltransferase cyclodeaminase	protein-coding gene	gene with protein product	Approved	21q22.3	21q22.3				formiminotransferase cyclodeaminase			1999-07-23		2013-06-10	2015-08-25	10841	ENSG00000160282	OTTHUMG00000090488	uc010gqg.2	U91541	NM_006657	"CCDS13731|CCDS82684"	O95954	"10029623|10773664"	MGI:1339962	RGD:70915		FTCD	606806					121951										"2.1.2.5|4.3.1.4"
HGNC:4087	GABRG2	gamma-aminobutyric acid type A receptor gamma2 subunit	protein-coding gene	gene with protein product	Approved	5q34	05q34		GABA(A) receptor, gamma 2		gamma-aminobutyric acid (GABA) A receptor, gamma 2	Gamma-aminobutyric acid type A receptor subunits	563	1991-02-26		2016-02-04	2016-02-04	2566	ENSG00000113327	OTTHUMG00000130350	uc003lyy.5		NM_000816	"CCDS4358|CCDS4359|CCDS47333"	P18507		MGI:95623	RGD:61966		GABRG2	137164					121993					objectId:414
HGNC:4251	GGT2	gamma-glutamyltransferase 2	protein-coding gene	gene with protein product	Approved	22q11.21	22q11.21			GGT		Gamma-glutamyltransferases	564	1989-06-30			2015-09-10	728441	ENSG00000133475	OTTHUMG00000150617	uc062byb.1	M30474	XM_001129377		P36268	"8104871|18357469"				GGT2	137181								T03.015							2.3.2.2
HGNC:4330	GLRX	glutaredoxin	protein-coding gene	gene with protein product	Approved	5q15	05q15	"GRX|GRX1"	thioltransferase		glutaredoxin (thioltransferase)	Glutaredoxin domain containing	1468	1995-05-18		2015-11-13	2016-10-05	2745	ENSG00000173221	OTTHUMG00000121167	uc063fnd.1		NM_002064	CCDS4078	P35754	8838810	MGI:2135625	RGD:70951		GLRX	600443
HGNC:4392	GNAS	GNAS complex locus	protein-coding gene	gene with protein product	Approved	20q13.32	20q13.32	"NESP55|NESP|GNASXL|GPSA|SCG6|SgVI"	"secretogranin VI|G protein subunit alpha S"	GNAS1	guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1	"Granins|G protein subunits alpha, group s"	"925|1426"	1990-06-29	2001-12-20	2001-12-19	2016-10-05	2778	ENSG00000087460	OTTHUMG00000033069	uc061ybx.1	M21142	NM_000516	"CCDS13471|CCDS13472|CCDS42892|CCDS46622|CCDS46623|CCDS46624|CCDS82633"	"O95467|P63092|P84996|Q5JWF2"		MGI:95777	RGD:2716	LOVD - Leiden Open Variation Database|http://www.LOVD.nl/GNAS	GNAS	139320					122194
HGNC:4422	GNS	glucosamine (N-acetyl)-6-sulfatase	protein-coding gene	gene with protein product	Approved	12q14.3	12q14.3		"Sanfilippo disease IIID|N-acetylglucosamine-6-sulfatase"			Sulfatases	410	1988-06-09		2008-08-01	2016-10-05	2799	ENSG00000135677	OTTHUMG00000168819	uc001ssg.5		NM_002076	CCDS8970	P15586		MGI:1922862	RGD:1305877		GNS	607664					122230										3.1.6.14
HGNC:4620	GSN	gelsolin	protein-coding gene	gene with protein product	Approved	9q33.2	09q33.2	DKFZp313L0718	amyloidosis, Finnish type		gelsolin (amyloidosis, Finnish type)	Gelsolin/villins	950	1988-07-19		2010-04-27	2016-10-05	2934	ENSG00000148180	OTTHUMG00000020584	uc064vkv.1	X04412	NM_000177	"CCDS6828|CCDS6829|CCDS48011|CCDS65118|CCDS75890|CCDS75891"	P06396	1652889	MGI:95851	RGD:1303089		GSN	137350					122296
HGNC:4702	GYPA	glycophorin A (MNS blood group)	protein-coding gene	gene with protein product	Approved	4q31.21	04q31.21	"GPA|MN|CD235a"		MNS	"glycophorin A (includes MN blood group)|glycophorin A (MN blood group)"	"Blood group antigens|CD molecules"	"454|471"	2001-06-22		2006-02-23	2018-04-21	2993	ENSG00000170180	OTTHUMG00000161403	uc003ijo.5	M36281	NM_002099	"CCDS34069|CCDS77965|CCDS82959"	P02724	3456608	MGI:95880		"Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home|LRG_793|http://www.lrg-sequence.org/LRG/LRG_793"	GYPA	617922					470426								CD235a
HGNC:14065	HDAC9	histone deacetylase 9	protein-coding gene	gene with protein product	Approved	7p21.1	07p21.1	"KIAA0744|HDAC|MITR|HD7|HDAC7B"				Histone deacetylases, class IIA	992	2002-09-06			2015-09-11	9734	ENSG00000048052	OTTHUMG00000152487	uc011jya.3	AF124924	NM_001204144	"CCDS47553|CCDS47554|CCDS47555|CCDS47557|CCDS56465|CCDS56466|CCDS56467|CCDS56468|CCDS75565|CCDS83163"	Q9UKV0	"10523670|10487760"	MGI:1931221	RGD:1310748		HDAC9	606543										objectId:2620
HGNC:5134	HOXD11	homeobox D11	protein-coding gene	gene with protein product	Approved	2q31.1	02q31.1			"HOX4|HOX4F"	homeo box D11	HOXL subclass homeoboxes	518	1990-06-15		2005-12-22	2015-08-25	3237	ENSG00000128713	OTTHUMG00000132510	uc010fqx.4		NM_021192	CCDS2265	P31277	"1973146|1358459"	MGI:96203	RGD:7730597		HOXD11	142986		8660
HGNC:5147	HPD	4-hydroxyphenylpyruvate dioxygenase	protein-coding gene	gene with protein product	Approved	12q24.31	12q24.31	"4-HPPD|4HPPD|GLOD3"	glyoxalase domain containing 3	PPD				1992-12-08			2013-09-19	3242	ENSG00000158104	OTTHUMG00000169081	uc001ubj.4	BC014790	NM_002150	"CCDS9224|CCDS53839"	P32754		MGI:96213	RGD:61974		HPD	609695					122470					objectId:2621					1.13.11.27
HGNC:5163	HPS1	HPS1, biogenesis of lysosomal organelles complex 3 subunit 1	protein-coding gene	gene with protein product	Approved	10q24.2	10q24.2	BLOC3S1		HPS	"Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome 1"	Biogenesis of lysosomal organelles complex 3 	1039	1990-05-14	2002-05-01	2016-02-25	2018-04-21	3257	ENSG00000107521	OTTHUMG00000018876	uc057vhe.1	U79136	"NM_000195|NM_182637|NM_182638|NM_182639"	"CCDS7475|CCDS7476"	Q92902	"8541858|7573033"	MGI:2177763	RGD:69193	"Albinism Database|http://albinismdb.med.umn.edu/|Mutations of the ep-Gene|http://www.retina-international.org/files/sci-news/epmut.htm|LRG_562|http://www.lrg-sequence.org/LRG/LRG_562"	HPS1	604982					122480
HGNC:18324	HSD3B7	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	protein-coding gene	gene with protein product	Approved	16p11.2	16p11.2	"C(27)-3BETA-HSD|SDR11E3"	short chain dehydrogenase/reductase family 11E, member 3			Short chain dehydrogenase/reductase superfamily	743	2003-01-13			2016-07-18	80270	ENSG00000099377	OTTHUMG00000132417	uc002eaf.3	AF277719	NM_001142777	"CCDS10698|CCDS45466"	Q9H2F3	"11067870|19027726"	MGI:2141879	RGD:628727		HSD3B7	607764					122517										"1.1.1.-|1.1.1.181"
HGNC:16969	HSPH1	heat shock protein family H (Hsp110) member 1	protein-coding gene	gene with protein product	Approved	13q12.3	13q12.3	"HSP105B|KIAA0201|HSP105A|NY-CO-25"			heat shock 105kDa/110kDa protein 1	Heat shock 70kDa proteins	583	2003-02-19		2015-11-19	2015-11-19	10808	ENSG00000120694	OTTHUMG00000016685	uc001utj.5	AB003333	NM_001286503	"CCDS9340|CCDS66525|CCDS73559|CCDS66526"	Q92598	"9610721|9931472"	MGI:105053	RGD:1311609		HSPH1	610703					470480
HGNC:5419	IFNA13	interferon alpha 13	protein-coding gene	gene with protein product	Approved	9p21.3	09p21.3					Interferons	598	1993-01-14		2016-06-13	2016-10-05	3447	ENSG00000233816	OTTHUMG00000019675	uc003zpa.3		NM_006900	CCDS6505	P01562	1385305		RGD:1306135		IFNA13	147578										ligandId:4955
HGNC:5440	IFNGR2	interferon gamma receptor 2	protein-coding gene	gene with protein product	Approved	21q22.11	21q22.11	AF-1		IFNGT1	interferon gamma receptor 2 (interferon gamma transducer 1)	"Fibronectin type III domain containing|Interferon receptors"	"555|599"	1986-01-01		2017-01-05	2018-04-21	3460	ENSG00000159128	OTTHUMG00000065188	uc002yrp.4		NM_001329128	"CCDS33544|CCDS82660"	P38484	3136170	MGI:107654	RGD:1307532	"IFNGR2base: Mutation registry for IFNγ2-receptor deficiency|http://structure.bmc.lu.se/idbase/IFNGR2base/|LRG_67|http://www.lrg-sequence.org/LRG/LRG_67"	IFNGR2	147569					122580					objectId:1726
HGNC:29669	IFT43	intraflagellar transport 43	protein-coding gene	gene with protein product	Approved	14q24.3	14q24.3	"FLJ32173|MGC16028"		C14orf179	"chromosome 14 open reading frame 179|intraflagellar transport 43 homolog (Chlamydomonas)"	Intraflagellar transport proteins	615	2006-06-19	2011-06-09	2014-07-03	2014-11-19	112752	ENSG00000119650		uc010asm.1	BC010436	NM_052873	"CCDS9847|CCDS41973|CCDS58330"	Q96FT9	21378380	MGI:1923661	RGD:1307392		IFT43	614068					270002
HGNC:20606	IFT88	intraflagellar transport 88	protein-coding gene	gene with protein product	Approved	13q12.11	13q12.11	"hTg737|Tg737|D13S1056E|MGC26259"	polaris homolog	TTC10	"tetratricopeptide repeat domain 10|intraflagellar transport 88 homolog (Chlamydomonas)"	"Intraflagellar transport proteins|Tetratricopeptide repeat domain containing"	"615|769"	2004-04-16	2005-11-02	2014-07-03	2016-10-05	8100	ENSG00000032742	OTTHUMG00000016517	uc001uni.4	AK058172	NM_006531	"CCDS31944|CCDS31945"	Q13099	7633404	MGI:98715	RGD:1309717		IFT88	600595
HGNC:5472	IGFBP3	insulin like growth factor binding protein 3	protein-coding gene	gene with protein product	Approved	7p12.3	07p12.3	"IBP3|BP-53"	"growth hormone-dependent binding protein|acid stable subunit of the 140 K IGF complex|binding protein 53|binding protein 29|IGF-binding protein 3"		insulin-like growth factor binding protein 3	Insulin like growth factor binding proteins	1065	1991-07-09		2015-11-12	2018-04-21	3486	ENSG00000146674	OTTHUMG00000023769	uc003tns.4		NM_001013398	"CCDS5505|CCDS34632"	P17936	1695633	MGI:96438	RGD:2874	LRG_68|http://www.lrg-sequence.org/LRG/LRG_68	IGFBP3	146732								I31.952
HGNC:5855	IGLC1	immunoglobulin lambda constant 1	other	immunoglobulin gene	Approved	22q11.22	22q11.22			IGLC	immunoglobulin lambda constant 1 (Mcg marker)	Immunoglobulin lambda locus at 22q11.2	353	2001-06-22		2016-06-13	2016-10-05	3537	ENSG00000211675	OTTHUMG00000151218	uc062cdy.1	J00252	NG_000002		P0CG04				IMGT; the international ImMunoGeneTics information system Â®|http://www.imgt.org		147220									IGLC1
HGNC:5857	IGLC3	immunoglobulin lambda constant 3 (Kern-Oz+ marker)	other	immunoglobulin gene	Approved	22q11.22	22q11.22			IGLC		Immunoglobulin lambda locus at 22q11.2	353	1989-05-29			2016-10-05	3539	ENSG00000211679	OTTHUMG00000151217	uc062cec.1	J00254	NG_000002		P0DOY3															IGLC3
HGNC:6010	IL2RG	interleukin 2 receptor subunit gamma	protein-coding gene	gene with protein product	Approved	Xq13.1	Xq13.1	CD132		"SCIDX1|IMD4|CIDX"	"severe combined immunodeficiency|combined immunodeficiency, X-linked|interleukin 2 receptor, gamma"	"CD molecules|Fibronectin type III domain containing|Interleukin receptors"	"471|555|602"	1992-11-30		2015-12-11	2018-04-21	3561	ENSG00000147168	OTTHUMG00000021787	uc004dyw.4	D11086	NM_000206	CCDS14406	P31785	"1631559|7883965"	MGI:96551	RGD:621466	"X-Linked Severe Combined Immuno deficiency SCID|http://www.ncbi.nlm.nih.gov/lovd/home.php?select_db=IL2RG|Mental Retardation database|http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=IL2RG|LRG_150|http://www.lrg-sequence.org/LRG/LRG_150"	IL2RG	308380					122641					objectId:2303			CD132
HGNC:5978	IL15RA	interleukin 15 receptor subunit alpha	protein-coding gene	gene with protein product	Approved	10p15.1	10p15.1	"CD215|IL-15RA"			interleukin 15 receptor, alpha	"CD molecules|Interleukin receptors|Sushi domain containing"	"471|602|1179"	1995-08-10		2015-12-11	2016-04-25	3601	ENSG00000134470	OTTHUMG00000017612	uc021pmo.2	U31628	"NM_172200|NM_002189"	"CCDS58069|CCDS7074|CCDS7075|CCDS73065"	Q13261	8530383	MGI:104644	RGD:1305149		IL15RA	601070										objectId:1702			CD215
HGNC:6117	IRF2	interferon regulatory factor 2	protein-coding gene	gene with protein product	Approved	4q35.1	04q35.1							1991-05-09			2016-01-15	3660	ENSG00000168310	OTTHUMG00000160606	uc003iwf.5		NM_002199	CCDS3835	P14316	2475256	MGI:96591	RGD:1304922		IRF2	147576
HGNC:5358	IRF8	interferon regulatory factor 8	protein-coding gene	gene with protein product	Approved	16q24.1	16q24.1	"IRF-8|ICSBP"		ICSBP1	interferon consensus sequence binding protein 1			1993-09-09	2004-11-12	2004-11-12	2018-04-21	3394	ENSG00000140968	OTTHUMG00000137648	uc002fjh.4	M91196	NM_002163	CCDS10956	Q02556	"1460054|11997525"	MGI:96395	RGD:1312024	LRG_294|http://www.lrg-sequence.org/LRG/LRG_294	IRF8	601565					315478
HGNC:13890	ITCH	itchy E3 ubiquitin protein ligase	protein-coding gene	gene with protein product	Approved	20q11.22	20q11.22	AIP4			"itchy (mouse homolog) E3 ubiquitin protein ligase|itchy E3 ubiquitin protein ligase homolog (mouse)"	C2 domain containing	823	2001-04-27		2012-02-23	2018-04-21	83737	ENSG00000078747	OTTHUMG00000032300	uc002xak.3	AF095745	NM_001257137	"CCDS13234|CCDS58768|CCDS58769"	Q96J02	11318614	MGI:1202301	RGD:1359556	LRG_354|http://www.lrg-sequence.org/LRG/LRG_354	ITCH	606409					232245
HGNC:6144	ITGA8	integrin subunit alpha 8	protein-coding gene	gene with protein product	Approved	10p13	10p13				integrin, alpha 8	Integrin alpha subunits	1160	1998-10-01		2015-12-15	2015-12-15	8516	ENSG00000077943	OTTHUMG00000017733	uc001ioc.2	L36531	NM_003638	CCDS31155	P53708	7768999	MGI:109442	RGD:621634		ITGA8	604063					395065					objectId:2447
HGNC:6153	ITGB1	integrin subunit beta 1	protein-coding gene	gene with protein product	Approved	10p11.22	10p11.22	"CD29|GPIIA"		"FNRB|MSK12|MDF2"	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	"CD molecules|Integrin beta subunits"	"471|1159"	1988-06-27		2015-12-15	2016-10-05	3688	ENSG00000150093	OTTHUMG00000017928	uc001iwt.5	BC020057	NM_002211	CCDS7174	P05556	2524991	MGI:96610	RGD:2927		ITGB1	135630										objectId:2455			CD29
HGNC:6183	ITSN1	intersectin 1	protein-coding gene	gene with protein product	Approved	21q22.11	21q22.11	"SH3P17|MGC134948|MGC134949"	"SH3 domain protein-1A|human intersectin-SH3 domain-containing protein SH3P17|Src homology 3 domain-containing protein|intersectin 1 short form variant, 11|intersectin 1 short form variant 3|intersectin short variant 12"	"SH3D1A|ITSN"	intersectin 1 (SH3 domain protein)	"Pleckstrin homology domain containing|Rho guanine nucleotide exchange factors|C2 domain containing|EF-hand domain containing"	"682|722|823|863"	1997-04-25		2015-11-10	2016-10-05	6453	ENSG00000205726	OTTHUMG00000065284	uc002yta.2	AF064244	NM_003024	"CCDS33545|CCDS33546|CCDS82661|CCDS82663|CCDS82664|CCDS82665|CCDS82666"	Q15811	"9799604|9813051"	MGI:1338069	RGD:2935		ITSN1	602442
HGNC:6206	JUND	JunD proto-oncogene, AP-1 transcription factor subunit	protein-coding gene	gene with protein product	Approved	19p13.11	19p13.11	AP-1	"transcription factor jun-D|JunD-FL isoform|activator protein 1"			"Basic leucine zipper proteins|Jun transcription factor family"	"506|1257"	1990-09-10		2016-05-03	2016-10-11	3727	ENSG00000130522	OTTHUMG00000183355	uc002nip.4		NM_005354	CCDS32959	P17535	"2112242|1903194"	MGI:96648	RGD:2945		JUND	165162
HGNC:17582	KAT6B	lysine acetyltransferase 6B	protein-coding gene	gene with protein product	Approved	10q22.2	10q22.2	"querkopf|qkf|Morf|MOZ2|ZC2HC6B"	MOZ-related factor	MYST4	"MYST histone acetyltransferase (monocytic leukemia) 4|K(lysine) acetyltransferase 6B"	"Zinc fingers C2HC-type|PHD finger proteins|MYST type domain containing lysine acetyltransferases"	"66|88|1584"	2003-06-03	2011-07-21	2016-02-12	2016-02-12	23522	ENSG00000156650	OTTHUMG00000018509	uc001jwn.3	AF113514	NM_012330	"CCDS7345|CCDS58084|CCDS58085"	Q8WYB5	"9205841|10497217"	MGI:1858746	RGD:1566399			605880					285156					objectId:2666
HGNC:6217	KATNB1	katanin regulatory subunit B1	protein-coding gene	gene with protein product	Approved	16q21	16q21				"katanin p80 (WD40-containing) subunit B 1|katanin p80 (WD repeat containing) subunit B 1"	WD repeat domain containing	362	1999-08-25		2016-03-21	2016-10-05	10300	ENSG00000140854	OTTHUMG00000133467	uc002eml.2	AF052432	NM_005886	CCDS10788	Q9BVA0	9568719	MGI:1921437	RGD:1311256		KATNB1	602703					448624
HGNC:6242	KCNE2	potassium voltage-gated channel subfamily E regulatory subunit 2	protein-coding gene	gene with protein product	Approved	21q22.11	21q22.11	"MiRP1|LQT6"			"potassium voltage-gated channel, Isk-related family, member 2|potassium channel, voltage gated subfamily E regulatory beta subunit 2"	Potassium voltage-gated channel regulatory subunits	858	1999-05-11		2016-02-04	2018-04-21	9992	ENSG00000159197	OTTHUMG00000086189	uc002ytt.2	AF071002	NM_172201	CCDS13635	Q9Y6J6	10219239	MGI:1891123	RGD:621383	"Gene Connection for the Heart|http://www.fsm.it/cardmoc/|KCNE2 database at LOVD-China|http://genomed.org/LOVD/LQTs/home.php?select_db=KCNE2|LRG_291|http://www.lrg-sequence.org/LRG/LRG_291"	KCNE2	603796					122770
HGNC:6323	KIF5A	kinesin family member 5A	protein-coding gene	gene with protein product	Approved	12q13.3	12q13.3	"D12S1889|NKHC|MY050"		SPG10	spastic paraplegia 10 (autosomal dominant)	Kinesins	622	1998-08-24		2004-02-13	2016-11-15	3798	ENSG00000155980	OTTHUMG00000170143	uc001sor.2	U06698	NM_004984	CCDS8945	Q12840	"9858832|10441583|16489470"	MGI:109564	RGD:1303035		KIF5A	602821					122851
HGNC:17060	KIFAP3	kinesin associated protein 3	protein-coding gene	gene with protein product	Approved	1q24.2	01q24.2	"SMAP|KAP3|FLA3|KAP-1"	Smg GDS		kinesin-associated protein 3	Armadillo-like helical domain containing	1492	2001-11-21		2016-01-21	2016-01-21	22920	ENSG00000075945	OTTHUMG00000035947	uc001ggv.4	U59919	NM_014970	"CCDS1288|CCDS55659|CCDS55660|CCDS55661"	Q92845	8900189	MGI:107566	RGD:1305191	ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/	KIFAP3	601836					470566
HGNC:6344	KL	klotho	protein-coding gene	gene with protein product	Approved	13q13.1	13q13.1							1999-03-24			2016-10-05	9365	ENSG00000133116	OTTHUMG00000017408	uc001uus.3	AB005142	NM_004795	CCDS9347	Q9UEF7	9464267	MGI:1101771	RGD:620396	The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=KL	KL	604824					179419
HGNC:6482	LAMA2	laminin subunit alpha 2	protein-coding gene	gene with protein product	Approved	6q22.33	06q22.33		"merosin|congenital muscular dystrophy"	LAMM	laminin, alpha 2	Laminin subunits	626	1992-05-06		2015-11-23	2018-04-21	3908	ENSG00000196569	OTTHUMG00000015545	uc063rgy.1	Z26653	NM_000426	CCDS5138	P24043	"2185464|8294519"	MGI:99912	RGD:1308889	"Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/LAMA2|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=LAMA2|LRG_409|http://www.lrg-sequence.org/LRG/LRG_409"	LAMA2	156225					122961
HGNC:6547	LDLR	low density lipoprotein receptor	protein-coding gene	gene with protein product	Approved	19p13.2	19p13.2	LDLCQ2	familial hypercholesterolemia			Low density lipoprotein receptors	634	1986-01-01		2008-08-01	2018-04-21	3949	ENSG00000130164	OTTHUMG00000171935	uc002mqk.5	AY114155	NM_000527	"CCDS12254|CCDS56083|CCDS56084|CCDS56085|CCDS58651"	P01130		MGI:96765	RGD:2998	"UCL LDLR-LOVD, British Heart Foundation variant database|http://databases.lovd.nl/shared/genes/LDLR|UMD Locus Specific Databases|http://www.umd.be/|LRG_274|http://www.lrg-sequence.org/LRG/LRG_274"	LDLR	606945					123021
HGNC:6568	LGALS7	galectin 7	protein-coding gene	gene with protein product	Approved	19q13.13	19q13.13	"GAL7|PIG1|TP53I1|LGALS7A"			lectin, galactoside-binding, soluble, 7	Galectins	629	1995-05-25		2016-05-13	2016-05-13	3963	ENSG00000205076	OTTHUMG00000182606	uc002oje.4	L07769	NM_002307	CCDS33012	P47929	"7534301|7729568"	MGI:1316742	RGD:61951		LGALS7	600615
HGNC:30922	LINS1	lines homolog 1	protein-coding gene	gene with protein product	Approved	15q26.3	15q26.3	WINS1		LINS	"lines homolog 1 (Drosophila)|lines homolog (Drosophila)"			2005-02-23	2015-08-18	2015-08-18	2015-09-28	55180	ENSG00000140471	OTTHUMG00000149865		AK095448	NM_018148	CCDS10385	Q8NG48	"12119551|8889548"	MGI:1919885	RGD:1308792			610350					357802
HGNC:9479	LONP1	lon peptidase 1, mitochondrial	protein-coding gene	gene with protein product	Approved	19p13.2	19p13.2	"LonHS|hLON|PIM1"		PRSS15	protease, serine, 15	"AAA ATPases|Serine proteases"	"413|738"	1999-09-17	2006-10-20	2006-10-20	2014-11-18	9361	ENSG00000196365	OTTHUMG00000180504	uc002mcx.5	U02389	NM_004793	"CCDS12148|CCDS62507|CCDS62508"	P36776	"8248235|8119403"	MGI:1921392	RGD:621598		LONP1	605490					420818			S16.002
HGNC:6677	LPL	lipoprotein lipase	protein-coding gene	gene with protein product	Approved	8p21.3	08p21.3			LIPD		Lipases	464	2001-06-22			2016-09-08	4023	ENSG00000175445	OTTHUMG00000036645	uc003wzk.5		NM_000237	CCDS6012	P06858	"3823907|3597382|3692485"	MGI:96820	RGD:3017		LPL	609708					123112										3.1.1.34
HGNC:19027	LRRC8A	leucine rich repeat containing 8 VRAC subunit A	protein-coding gene	gene with protein product	Approved	9q34.11	09q34.11	"KIAA1437|FLJ10337|SWELL1"		LRRC8	"leucine rich repeat containing 8|leucine rich repeat containing 8 family member A"	Volume regulated anion channel subunits	1158	2003-09-26	2005-06-29	2017-08-01	2018-04-21	56262	ENSG00000136802	OTTHUMG00000020766	uc004bwl.5	AB037858	NM_019594	CCDS35155	Q8IWT6	24725410	MGI:2652847	RGD:1311690	"LRRC8Abase: Mutation registry for Non-Bruton type autosomal dominant agammaglobulinemia|http://structure.bmc.lu.se/idbase/LRRC8Abase/|LRG_80|http://www.lrg-sequence.org/LRG/LRG_80"	LRRC8A	608360					123129
HGNC:6708	LSS	lanosterol synthase	protein-coding gene	gene with protein product	Approved	21q22.3	21q22.3	OSC	Oxidosqualene-lanosterol cyclase		lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)			1998-05-07		2017-01-09	2017-01-09	4047	ENSG00000160285	OTTHUMG00000090633	uc002zij.4	U22526	NM_001001438	"CCDS13733|CCDS46654|CCDS54489"	P48449	"7639730|8655142"	MGI:1336155	RGD:620955		LSS	600909					436871					objectId:2434					5.4.99.7
HGNC:1968	LYST	lysosomal trafficking regulator	protein-coding gene	gene with protein product	Approved	1q42.3	01q42.3	CHS		CHS1	Chediak-Higashi syndrome 1	"WD repeat domain containing|BEACH domain containing "	"362|1230"	1996-10-31	2004-12-10	2004-12-09	2018-04-21	1130	ENSG00000143669	OTTHUMG00000040527	uc001hxj.4	U70064	NM_000081	CCDS31062	Q99698	"8717042|8896560"	MGI:107448	RGD:621837	"Albinism Database|http://albinismdb.med.umn.edu/|LYSTbase: Mutation registry for Chediak-Higashi syndrome (previously known as CHS1base)|http://structure.bmc.lu.se/idbase/LYSTbase/|Mutations of the Chediak Higashi Syndrome|http://www.retina-international.org/files/sci-news/chsmut.htm|LRG_143|http://www.lrg-sequence.org/LRG/LRG_143"	LYST	606897					123318
HGNC:6819	MALT1	MALT1 paracaspase	protein-coding gene	gene with protein product	Approved	18q21.32	18q21.32	PCASP1	"MALT1 protease|paracaspase 1"	MLT	mucosa associated lymphoid tissue lymphoma translocation gene 1	"Immunoglobulin like domain containing|CBM complex"	"594|1405"	1999-08-02		2014-12-01	2016-10-05	10892	ENSG00000172175	OTTHUMG00000132761	uc002lhm.3		NM_006785	"CCDS11967|CCDS11968"	Q9UDY8	"10339464|10406266|10523859|11090634|26377317"	MGI:2445027	RGD:1309195		MALT1	604860					159756			C14.026		objectId:2983
HGNC:6936	MCCC1	methylcrotonoyl-CoA carboxylase 1	protein-coding gene	gene with protein product	Approved	3q27.1	03q27.1	MCCA	methylcrotonoyl-CoA carboxylase alpha		methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)			1992-12-07		2015-11-13	2015-11-13	56922	ENSG00000078070	OTTHUMG00000158355	uc003fle.4	AF310972	NM_020166	CCDS3241	Q96RQ3	11170888	MGI:1919289	RGD:1310615		MCCC1	609010					123164										6.4.1.4
HGNC:25944	MED18	mediator complex subunit 18	protein-coding gene	gene with protein product	Approved	1p35.3	01p35.3	"FLJ20045|p28b|SRB5"			mediator of RNA polymerase II transcription, subunit 18 homolog (S. cerevisiae)	Mediator complex	1061	2004-11-09		2007-07-30	2017-06-12	54797	ENSG00000130772	OTTHUMG00000003537	uc001bpt.5	BC002694	NM_017638	CCDS322	Q9BUE0	15175163	MGI:1914469	RGD:1592757		MED18	612384
HGNC:23032	MED30	mediator complex subunit 30	protein-coding gene	gene with protein product	Approved	8q24.11	08q24.11	TRAP25		THRAP6	thyroid hormone receptor associated protein 6	Mediator complex	1061	2004-01-30	2007-07-30	2007-07-30	2014-11-19	90390	ENSG00000164758	OTTHUMG00000164920	uc003yoj.4	AY083305	NM_080651	"CCDS6323|CCDS64959"	Q96HR3		MGI:1917040	RGD:1309369		MED30	610237
HGNC:3233	MEGF8	multiple EGF like domains 8	protein-coding gene	gene with protein product	Approved	19q13.2	19q13.2	"SBP1|FLJ22365"	HBV pre s2 binding protein 1	"EGFL4|C19orf49"	"EGF-like-domain, multiple 4|chromosome 19 open reading frame 49|multiple EGF-like-domains 8"			1998-03-25	2006-03-31	2016-01-21	2016-01-21	1954	ENSG00000105429	OTTHUMG00000150342	uc002otl.4	AB011541	NM_001410	"CCDS12604|CCDS62693"	Q7Z7M0	9693030	MGI:2446294	RGD:621190		MEGF8	604267					318839
HGNC:7114	MKRN3	makorin ring finger protein 3	protein-coding gene	gene with protein product	Approved	15q11.2	15q11.2	"RNF63|ZFP127|MGC88288"	zinc finger protein 127	"ZNF127|D15S9"		Ring finger proteins	58	1992-11-06		2008-08-13	2018-04-21	7681	ENSG00000179455	OTTHUMG00000129160	uc001ywh.5	U19107	NM_005664	CCDS10013	Q13064	10196367	MGI:2181178	RGD:1311197	LRG_1045|http://www.lrg-sequence.org/LRG/LRG_1045	MKRN3	603856					360230
HGNC:7150	MLYCD	malonyl-CoA decarboxylase	protein-coding gene	gene with protein product	Approved	16q23.3	16q23.3	"MCD|hMCD"						2000-02-11			2016-01-08	23417	ENSG00000103150	OTTHUMG00000176654	uc002fgz.4	AF153679	NM_012213	CCDS42206	O95822	"10455107|9869665"	MGI:1928485	RGD:620234	"MLYCD Allelic Variant Database|https://lsdb.hgu.mrc.ac.uk/home.php?select_db=MLYCD/|LOVD|http://lsdb.hgu.mrc.ac.uk/home.php?select_db=MLYCD"	MLYCD	606761					123290					objectId:1275
HGNC:21606	MPC1	mitochondrial pyruvate carrier 1	protein-coding gene	gene with protein product	Approved	6q27	06q27	"dJ68L15.3|CGI-129|SLC54A1"		BRP44L	brain protein 44-like	Solute carriers	752	2003-06-26	2012-07-30	2012-07-30	2017-06-19	51660	ENSG00000060762	OTTHUMG00000015999	uc063svb.1	AF125101	NM_016098	"CCDS5293|CCDS75547"	Q9Y5U8	22628558	MGI:1915240	RGD:620902			614738					456998
HGNC:7207	MPDU1	mannose-P-dolichol utilization defect 1	protein-coding gene	gene with protein product	Approved	17p13.1	17p13.1	"SL15|Lec35|PQLC5|CDGIf"						1999-05-25			2016-10-05	9526	ENSG00000129255	OTTHUMG00000108147	uc002ghw.4	AF038961	NM_001330073	"CCDS11115|CCDS82054"	O75352	"8663248|9653160|11733564"	MGI:1346040	RGD:1307699	Congenital Disorders of Glycosylation pages|http://www.euroglycanet.org/	MPDU1	604041					123458
HGNC:1304	MRAP	melanocortin 2 receptor accessory protein	protein-coding gene	gene with protein product	Approved	21q22.11	21q22.11	"B27|FALP"		C21orf61	chromosome 21 open reading frame 61			2000-08-22	2005-02-07	2005-02-01	2016-10-05	56246	ENSG00000170262	OTTHUMG00000085309	uc002ypj.4	AF454915	NM_178817	"CCDS13612|CCDS13613"	Q8TCY5	"12036298|15654338"	MGI:1924287	RGD:1310648		MRAP	609196					123478
HGNC:7230	MRE11	MRE11 homolog, double strand break repair nuclease	protein-coding gene	gene with protein product	Approved	11q21	11q21	ATLD	AT-like disease	MRE11A	"MRE11 meiotic recombination 11 homolog A (S. cerevisiae)|MRE11 homolog A, double strand break repair nuclease"	"BRCA1 C complex|MRN complex"	"1336|1344"	1995-05-05	2016-09-30	2016-09-30	2018-04-21	4361	ENSG00000020922	OTTHUMG00000167780	uc001peu.4	BC063458	NM_005591	"CCDS8298|CCDS8299|CCDS81617"	P49959	"8530104|24316220"	MGI:1100512	RGD:69263	"MRE11Abase: Mutation registry for Ataxia-telangiectasia-like disorder (ATLD)|http://structure.bmc.lu.se/idbase/MRE11Abase/|LRG_85|http://www.lrg-sequence.org/LRG/LRG_85"		600814					123483
HGNC:7392	MSX2	msh homeobox 2	protein-coding gene	gene with protein product	Approved	5q35.2	05q35.2	"CRS2|FPP|HOX8|MSH|PFM"	craniosynostosis, type 2	PFM1	"msh (Drosophila) homeo box homolog 2|parietal foramina 1|msh homeobox homolog 2 (Drosophila)"	NKL subclass homeoboxes and pseudogenes	519	1993-05-26		2006-11-21	2014-11-19	4488	ENSG00000120149	OTTHUMG00000130556	uc003mcy.4	D26145	NM_002449	CCDS4392	P35548	"8668339|8786091"	MGI:97169	RGD:3116		MSX2	123101		8468			123500
HGNC:7414	MT-ATP6	mitochondrially encoded ATP synthase membrane subunit 6	protein-coding gene	gene with protein product	Approved	mitochondria	mitochondria	"ATP6|ATPase-6|Su6m"	mitochondrially encoded ATP synthase membrane subunit a	"MTATP6|RP"	"ATP synthase 6|spicular retinitis pigmentosa with dementia, seizures, ataxia, proximal muscle weakness and sensory deficit|mitochondrially encoded ATP synthase 6"	Mitochondrial complex V: ATP synthase subunits	644	1989-10-12	2005-02-16	2017-11-22	2017-11-22	4508	ENSG00000198899		uc064xpf.1		YP_003024031		P00846	7219534	MGI:99927	RGD:621239		MT-ATP6	516060					123508					objectId:801
HGNC:7419	MT-CO1	mitochondrially encoded cytochrome c oxidase I	protein-coding gene	gene with protein product	Approved	mitochondria	mitochondria	"COX1|COI"		MTCO1	cytochrome c oxidase I	Mitochondrial complex IV: cytochrome c oxidase subunits	643	1989-10-12	2005-02-16	2005-02-15	2015-08-25	4512	ENSG00000198804		uc031tga.3		YP_003024028		P00395	7219534	MGI:102504	RGD:621871		MT-CO1	516030					123512
HGNC:7421	MT-CO2	mitochondrially encoded cytochrome c oxidase II	protein-coding gene	gene with protein product	Approved	mitochondria	mitochondria	"COX2|CO2"		MTCO2	cytochrome c oxidase II	Mitochondrial complex IV: cytochrome c oxidase subunits	643	1989-10-12	2005-02-16	2005-02-15	2015-08-25	4513	ENSG00000198712		uc064xpd.1		YP_003024029		P00403	"1712754|1989603"	MGI:102503	RGD:621872		MT-CO2	516040					123516
HGNC:7422	MT-CO3	mitochondrially encoded cytochrome c oxidase III	protein-coding gene	gene with protein product	Approved	mitochondria	mitochondria	"COX3|COIII|CO3"		MTCO3	cytochrome c oxidase III	Mitochondrial complex IV: cytochrome c oxidase subunits	643	1989-10-12	2005-02-16	2005-02-15	2015-08-25	4514	ENSG00000198938		uc064xpg.1		YP_003024032		P00414		MGI:102502	RGD:621873		MT-CO3	516050					123520
HGNC:7461	MT-ND5	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5	protein-coding gene	gene with protein product	Approved	mitochondria	mitochondria	"ND5|NAD5"	"complex I ND5 subunit|NADH-ubiquinone oxidoreductase chain 5"	MTND5	"NADH dehydrogenase 5|mitochondrially encoded NADH dehydrogenase 5"	NADH:ubiquinone oxidoreductase core subunits	1149	1989-10-11	2005-02-16	2015-11-20	2015-11-20	4540	ENSG00000198786		uc004cox.6		YP_003024036		P03915		MGI:102496	RGD:620560		MT-ND5	516005					123562										1.6.5.3
HGNC:7462	MT-ND6	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6	protein-coding gene	gene with protein product	Approved	mitochondria	mitochondria	"NAD6|ND6"	"complex I ND6 subunit|NADH-ubiquinone oxidoreductase chain 6"	MTND6	"NADH dehydrogenase 6|mitochondrially encoded NADH dehydrogenase 6"	NADH:ubiquinone oxidoreductase core subunits	1149	1989-10-11	2005-02-16	2015-11-20	2015-11-20	4541	ENSG00000198695		uc064xpm.1		YP_003024037		P03923		MGI:102495	RGD:620561		MT-ND6	516006					123567										1.6.5.3
HGNC:7481	MT-TF	mitochondrially encoded tRNA phenylalanine	non-coding RNA	RNA, transfer	Approved	mitochondria	mitochondria	trnF		MTTF	tRNA phenylalanine	Mitochondrially encoded tRNAs	843	1989-10-11	2005-02-16	2005-02-15	2015-09-28	4558	ENSG00000210049		uc064xos.1						MGI:102487				590070					167909							20					URS00003E8921
HGNC:7492	MT-TM	mitochondrially encoded tRNA methionine	non-coding RNA	RNA, transfer	Approved	mitochondria	mitochondria	trnM		MTTM	tRNA methionine	Mitochondrially encoded tRNAs	843	1989-10-12	2005-02-16	2005-02-15	2015-09-28	4569	ENSG00000210112		uc064xow.1						MGI:102480				590065					470706							19					URS000006E464
HGNC:7494	MT-TP	mitochondrially encoded tRNA proline	non-coding RNA	RNA, transfer	Approved	mitochondria	mitochondria	trnP		MTTP	tRNA proline	Mitochondrially encoded tRNAs	843	1989-10-11	2005-02-16	2005-02-15	2015-09-28	4571	ENSG00000210196		uc022bqx.2						MGI:102478				590075					205934							21					URS000002176F
HGNC:7495	MT-TQ	mitochondrially encoded tRNA glutamine	non-coding RNA	RNA, transfer	Approved	mitochondria	mitochondria	trnQ		MTTQ	tRNA glutamine	Mitochondrially encoded tRNAs	843	1989-10-12	2005-02-16	2005-02-15	2015-09-28	4572	ENSG00000210107		uc033dml.1						MGI:102477				590030					138906							14					URS000019B78E
HGNC:7499	MT-TT	mitochondrially encoded tRNA threonine	non-coding RNA	RNA, transfer	Approved	mitochondria	mitochondria	trnT		"MTTT|LIMM"	"tRNA threonine|lethal infantile mitochondrial myopathy"	Mitochondrially encoded tRNAs	843	1989-10-11	2005-02-16	2005-02-15	2015-09-28	4576	ENSG00000210195		uc064xpn.1						MGI:102473				590090					328936							24					URS00000FCDE9
HGNC:7526	MUT	methylmalonyl-CoA mutase	protein-coding gene	gene with protein product	Approved	6p12.3	06p12.3				methylmalonyl Coenzyme A mutase			2001-06-22		2015-11-11	2016-10-05	4594	ENSG00000146085	OTTHUMG00000014814	uc003ozg.5		NM_000255	CCDS4924	P22033	"2907507|9503014"	MGI:97239	RGD:1587662	MUT database at LOVD-China|http://www.genomed.org/lovd/mma/home.php?select_db=MUT	MUT	609058					123583										5.4.99.2
HGNC:7551	MYBPC3	myosin binding protein C, cardiac	protein-coding gene	gene with protein product	Approved	11p11.2	11p11.2	"MYBP-C|FHC"		CMH4	myosin-binding protein C, cardiac	"Fibronectin type III domain containing|I-set domain containing|Myosin binding proteins"	"555|593|658"	1995-05-30		2001-11-28	2018-04-21	4607	ENSG00000134571	OTTHUMG00000166986	uc058bdz.1	X84075	NM_000256	CCDS53621	Q14896	"7744002|8358441"	MGI:102844	RGD:1305950	"FHC Mutation Database|http://www.angis.org.au/Databases/Heart/heartbreak.html|LRG_386|http://www.lrg-sequence.org/LRG/LRG_386"	MYBPC3	600958					123595					objectId:2880
HGNC:7603	MYO5B	myosin VB	protein-coding gene	gene with protein product	Approved	18q	18q	KIAA1119				Myosins, class V	1100	1996-04-04			2015-09-04	4645	ENSG00000167306	OTTHUMG00000179843	uc002leb.3	AB032945	NM_001080467	CCDS42436	Q9ULV0	"8884266|17462998"	MGI:106598	RGD:621347		MYO5B	606540					171089
HGNC:7605	MYO6	myosin VI	protein-coding gene	gene with protein product	Approved	6q14.1	06q14.1	KIAA0389		"DFNA22|DFNB37"	deafness, autosomal recessive 37	"Myosins, class VI|Deafness associated genes"	"1101|1152"	1996-04-04		2004-05-19	2018-04-21	4646	ENSG00000196586	OTTHUMG00000015061	uc003pih.2	"U90236|AB002387"	NM_004999	"CCDS34487|CCDS75481"	Q9UM54	"9259267|11468689"	MGI:104785	RGD:1560646	"Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org|CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=MYO6|LRG_438|http://www.lrg-sequence.org/LRG/LRG_438"	MYO6	600970					123648
HGNC:7658	NCBP1	nuclear cap binding protein subunit 1	protein-coding gene	gene with protein product	Approved	9q22.33	09q22.33	"CBP80|Sto1"		NCBP	"nuclear cap binding protein subunit 1, 80kD|nuclear cap binding protein subunit 1, 80kDa"			1995-01-05		2015-11-09	2016-10-05	4686	ENSG00000136937	OTTHUMG00000020332	uc004axq.4	BC001450	NM_002486	CCDS6728	Q09161	"7937105|8812508"	MGI:1891840	RGD:1308973		NCBP1	600469
HGNC:17597	NCDN	neurochondrin	protein-coding gene	gene with protein product	Approved	1p34.3	01p34.3	"NCDN-1|NCDN-2"				Armadillo-like helical domain containing	1492	2004-11-11			2014-11-19	23154	ENSG00000020129	OTTHUMG00000059204	uc001bza.3	AB011179	NM_014284	"CCDS392|CCDS30672"	Q9UBB6	15007648	MGI:1347351	RGD:621734		NCDN	608458
HGNC:16909	NDC80	NDC80, kinetochore complex component	protein-coding gene	gene with protein product	Approved	18p11.32	18p11.32	"HEC|HEC1|hsNDC80|TID3"		KNTC2	"highly expressed in cancer, rich in leucine heptad repeats (yeast)|kinetochore associated 2|NDC80 kinetochore complex component homolog (S. cerevisiae)"	NDC80 kinetochore complex 	1573	2004-01-15	2007-03-02	2016-05-12	2016-10-05	10403	ENSG00000080986	OTTHUMG00000131483	uc002kli.3	AF017790	NM_006101	CCDS11827	O14777	"9315664|12351790"	MGI:1914302	RGD:1310154		NDC80	607272
HGNC:17619	NDE1	nudE neurodevelopment protein 1	protein-coding gene	gene with protein product	Approved	16p13.11	16p13.11	"nudE|FLJ20101|NDE"			"nudE nuclear distribution gene E homolog 1 (A. nidulans)|nudE nuclear distribution E homolog 1 (A. nidulans)"			2003-04-10		2013-08-06	2014-11-18	54820	ENSG00000072864	OTTHUMG00000129885	uc010uzy.3	AF124431	NM_017668	CCDS10564	Q9NXR1	"10940388|12427674"	MGI:1914453	RGD:620038		NDE1	609449					281616
HGNC:7717	NDUFV2	NADH:ubiquinone oxidoreductase core subunit V2	protein-coding gene	gene with protein product	Approved	18p11.22	18p11.22	CI-24k	"complex I 24kDa subunit|NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial"		"NADH dehydrogenase (ubiquinone) flavoprotein 2 (24kD)|NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa"	NADH:ubiquinone oxidoreductase core subunits	1149	1994-09-07		2015-11-20	2015-11-20	4729	ENSG00000178127	OTTHUMG00000131593	uc002knu.3	X84421	NM_021074	CCDS11842	P19404	"9763677|7607668"	MGI:1920150	RGD:621733		NDUFV2	600532					123747										1.6.5.3
HGNC:7719	NDUFV3	NADH:ubiquinone oxidoreductase subunit V3	protein-coding gene	gene with protein product	Approved	21q22.3	21q22.3	CI-10k	complex I 10kDa subunit		"NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)|NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa"	NADH:ubiquinone oxidoreductase supernumerary subunits	1150	1994-09-07		2015-11-20	2015-11-20	4731	ENSG00000160194	OTTHUMG00000086823	uc002zcn.4		NM_001001503	"CCDS33572|CCDS33573"	P56181	9344673	MGI:1890894	RGD:621020		NDUFV3	602184					470764										1.6.5.3
HGNC:14906	NIN	ninein	protein-coding gene	gene with protein product	Approved	14q22.1	14q22.1				ninein (GSK3B interacting protein)	EF-hand domain containing	863	2001-03-15		2015-11-23	2016-10-05	51199	ENSG00000100503	OTTHUMG00000029569	uc001wym.4	AF212162	NM_182946	"CCDS32078|CCDS32079"	Q8N4C6	"11004522|11162463"	MGI:105108	RGD:1306492		NIN	608684					325022
HGNC:18006	NISCH	nischarin	protein-coding gene	gene with protein product	Approved	3p21.1	03p21.1	"KIAA0975|I-1|IRAS"	"imidazoline receptor candidate|I-1 receptor candidate protein|imidazoline receptor antisera selected"					2002-01-16			2014-11-19	11188	ENSG00000010322	OTTHUMG00000158571	uc032rnx.2	AF082516	NM_007184	"CCDS33767|CCDS63651|CCDS63652"	Q9Y2I1	"11912194|10882231"	MGI:1928323	RGD:1306950		NISCH	615507
HGNC:7872	NOS1	nitric oxide synthase 1	protein-coding gene	gene with protein product	Approved	12q24.22	12q24.22	nNOS		NOS	nitric oxide synthase 1 (neuronal)	PDZ domain containing	1220	1992-06-09		2015-12-04	2017-07-12	4842	ENSG00000089250	OTTHUMG00000137376	uc001twm.3		NM_000620	"CCDS41842|CCDS55890"	P29475	"1385308|7682706"	MGI:97360	RGD:3184	The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=NOS1	NOS1	163731					426568					objectId:1251					1.14.13.39
HGNC:7968	NR1I2	nuclear receptor subfamily 1 group I member 2	protein-coding gene	gene with protein product	Approved	3q13.33	03q13.33	"ONR1|PXR|BXR|SXR|PAR2"	"pregnane X receptor|orphan nuclear receptor PXR"		nuclear receptor subfamily 1, group I, member 2	Nuclear hormone receptors	71	1999-04-23		2015-11-18	2016-10-05	8856	ENSG00000144852	OTTHUMG00000159400	uc003edk.3	AF061056	NM_003889	"CCDS2995|CCDS43136|CCDS54627"	O75469	"9727070|9770465"	MGI:1337040	RGD:69057		NR1I2	603065					470788					objectId:606
HGNC:8149	OPLAH	5-oxoprolinase, ATP-hydrolysing	protein-coding gene	gene with protein product	Approved	8q24.3	08q24.3	"OPLA|5-Opase"						1999-12-10		2017-08-08	2017-08-08	26873	ENSG00000178814	OTTHUMG00000165435	uc033cce.2	"AF024672|AB122018"	NM_017570	CCDS75802	O14841	14993790	MGI:1922725	RGD:620956		OPLAH	614243					297456										3.5.2.9
HGNC:25402	OTUD5	OTU deubiquitinase 5	protein-coding gene	gene with protein product	Approved	Xp11.23	Xp11.23	"DKFZp761A052|DUBA"			OTU domain containing 5	OTU domain containing	669	2005-09-28		2014-02-24	2015-08-25	55593	ENSG00000068308	OTTHUMG00000024130	uc004dlu.4		NM_017602	"CCDS14313|CCDS48104|CCDS48105"	Q96G74	24143256	MGI:1859615	RGD:1563027		OTUD5	300713								C85.001
HGNC:8754	PCYT1A	phosphate cytidylyltransferase 1, choline, alpha	protein-coding gene	gene with protein product	Approved	3q29	03q29	"CT|CTPCT"	phosphate cytidylyltransferase 1, choline, alpha isoform	PCYT1	phosphate cytidylyltransferase 1, choline, alpha isoform			1999-05-05		2005-09-05	2014-11-19	5130	ENSG00000161217	OTTHUMG00000155670	uc003fwf.2	L28957	NM_005017	CCDS3315	P49585	7918629	MGI:88557	RGD:70515		PCYT1A	123695					391468										2.7.7.15
HGNC:8789	PDE6G	phosphodiesterase 6G	protein-coding gene	gene with protein product	Approved	17q21.1	17q21.1	RP57		PDEG	phosphodiesterase 6G, cGMP-specific, rod, gamma	Phosphodiesterases	681	1990-04-10		2015-11-18	2015-11-18	5148	ENSG00000185527	OTTHUMG00000178038	uc060llj.1		NM_002602	CCDS11783	P18545	2155175	MGI:97526	RGD:1591130		PDE6G	180073					238998					objectId:1316					3.1.4.17
HGNC:8803	PDGFRA	platelet derived growth factor receptor alpha	protein-coding gene	gene with protein product	Approved	4q12	04q12	"CD140a|PDGFR2|GAS9"			platelet-derived growth factor receptor, alpha polypeptide	"Receptor Tyrosine Kinases|CD molecules|I-set domain containing"	"321|471|593"	1989-05-19		2016-01-14	2018-04-21	5156	ENSG00000134853	OTTHUMG00000128699	uc003han.5	D50001	NM_006206	CCDS3495	P16234	8643452	MGI:97530	RGD:3284	LRG_309|http://www.lrg-sequence.org/LRG/LRG_309	PDGFRA	173490					124154					objectId:1803			CD140a
HGNC:8876	PFKL	phosphofructokinase, liver type	protein-coding gene	gene with protein product	Approved	21q22.3	21q22.3							1986-01-01		2016-02-10	2016-02-10	5211	ENSG00000141959	OTTHUMG00000086910	uc002zel.4		NM_001002021	CCDS33582	P17858		MGI:97547	RGD:3311		PFKL	171860															2.7.1.11
HGNC:8896	PGK1	phosphoglycerate kinase 1	protein-coding gene	gene with protein product	Approved	Xq21.1	Xq21.1							1989-04-24			2016-10-05	5230	ENSG00000102144	OTTHUMG00000021888	uc004ecz.5	L00159	NM_000291	CCDS14438	P00558	"6188151|6099325"	MGI:97555	RGD:619878	Mental Retardation database|http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PGK1	PGK1	311800					124227										2.7.2.3
HGNC:9394	PICK1	protein interacting with PRKCA 1	protein-coding gene	gene with protein product	Approved	22q13.1	22q13.1	"dJ1039K5|MGC15204"		PRKCABP	"protein kinase C, alpha binding protein|protein interacting with PRKCA"	"PDZ domain containing|Classical BAR domain containing"	"1220|1292"	1999-10-19	2006-02-14	2006-02-14	2014-11-19	9463	ENSG00000100151	OTTHUMG00000151159	uc003aus.4	AL049654	NM_012407	CCDS13965	Q9NRD5	"10340301|10591208"	MGI:894645	RGD:69437		PICK1	605926					438982
HGNC:9101	PLXNA3	plexin A3	protein-coding gene	gene with protein product	Approved	Xq28	Xq28	"SEX|XAP-6|6.3|Plxn3"		PLXN4		Plexins	683	1998-01-20			2014-11-18	55558	ENSG00000130827	OTTHUMG00000033290	uc004flm.5	X74609	NM_017514	CCDS14752	P51805	"8248200|8733135"	MGI:107683	RGD:1584973	Mental Retardation database|http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PLXNA3	PLXNA3	300022
HGNC:9113	PML	promyelocytic leukemia	protein-coding gene	gene with protein product	Approved	15q24.1	15q24.1	"MYL|TRIM19|RNF71"				"Ring finger proteins|Tripartite motif containing"	"58|59"	1991-06-05			2018-04-21	5371	ENSG00000140464	OTTHUMG00000137607	uc002awv.4	AB208950	NM_002675	"CCDS10255|CCDS10256|CCDS10257|CCDS10258|CCDS45297|CCDS45298|CCDS45299|CCDS45300|CCDS58386"	P29590		MGI:104662	RGD:1562602	LRG_1069|http://www.lrg-sequence.org/LRG/LRG_1069	PML	102578					117898
HGNC:9178	POLE2	DNA polymerase epsilon 2, accessory subunit	protein-coding gene	gene with protein product	Approved	14q21.3	14q21.3	DPE2	DNA polymerase epsilon subunit B		"polymerase (DNA directed), epsilon 2 (p59 subunit)|polymerase (DNA) epsilon 2, accessory subunit"	DNA polymerases	535	1998-07-03		2016-07-11	2016-10-05	5427	ENSG00000100479	OTTHUMG00000170813	uc001wwu.4	AF025840	NM_002692	"CCDS32073|CCDS55914|CCDS55915"	P56282	"9405441|9443964"	MGI:1197514	RGD:1311962		POLE2	602670
HGNC:9182	POLI	DNA polymerase iota	protein-coding gene	gene with protein product	Approved	18q21.2	18q21.2			"RAD3OB|RAD30B"	"polymerase (DNA directed) iota|polymerase (DNA) iota"	DNA polymerases	535	2000-01-24		2016-07-11	2016-10-05	11201	ENSG00000101751	OTTHUMG00000132704	uc002lfj.5		NM_007195	CCDS11954	Q9UNA4	17609217	MGI:1347081	RGD:1305212		POLI	605252
HGNC:9198	POLR2K	RNA polymerase II subunit K	protein-coding gene	gene with protein product	Approved	8q22.2	08q22.2	RPB10alpha			polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa	RNA polymerase subunits	726	1993-12-07		2016-07-11	2016-10-05	5440	ENSG00000147669	OTTHUMG00000164705	uc003yjf.4		NM_005034	CCDS6285	P53803		MGI:102725	RGD:2319895		POLR2K	606033
HGNC:17284	POT1	protection of telomeres 1	protein-coding gene	gene with protein product	Approved	7q31.33	07q31.33	"hPot1|DKFZp586D211"			protection of telomeres 1 homolog (S. pombe)	Shelterin complex	1334	2004-08-20		2013-01-21	2014-11-19	25913	ENSG00000128513	OTTHUMG00000157194	uc003vlm.4	AK022580	NM_001042594	CCDS5793	Q9NUX5	"11349150|12391173"	MGI:2141503	RGD:1562696		POT1	606478					353330
HGNC:16318	PPP1R2B	PPP1R2 family member B	protein-coding gene	gene with protein product	Approved	5q33.3	05q33.3	MGC87149		PPP1R2P3	"protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 3|protein phosphatase 1 regulatory inhibitor subunit 2 pseudogene 3"			2001-08-29	2018-01-22	2018-01-22	2018-01-22	153743	ENSG00000231989	OTTHUMG00000163467		BC066922	NM_206858		Q6NXS1	"11948623|23506001"
HGNC:9291	PPP1R3A	protein phosphatase 1 regulatory subunit 3A	protein-coding gene	gene with protein product	Approved	7q31.1	07q31.1	GM	"glycogen-associated regulatory subunit of protein phosphatase-1|protein phosphatase 1 regulatory subunit GM"	PPP1R3	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)|protein phosphatase 1, regulatory (inhibitor) subunit 3A|protein phosphatase 1, regulatory subunit 3A"	Protein phosphatase 1 regulatory subunits	694	1993-01-22	2001-07-02	2015-11-18	2015-11-18	5506	ENSG00000154415	OTTHUMG00000156944	uc010ljy.2	AF024578	NM_002711	CCDS5759	Q16821	7926294	MGI:2153588	RGD:1561312		PPP1R3A	600917															3.1.3.16
HGNC:9315	PPP3CB	protein phosphatase 3 catalytic subunit beta	protein-coding gene	gene with protein product	Approved	10q22.2	10q22.2	"CALNA2|CNA2|PP2Bbeta"	"calcineurin A beta|protein phosphatase 2B, catalytic subunit, beta isoform"	CALNB	"protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)|protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform|protein phosphatase 3, catalytic subunit, beta isozyme"	Protein phosphatase catalytic subunits	693	1992-11-09		2016-02-10	2016-02-10	5532	ENSG00000107758	OTTHUMG00000018472	uc001jue.4	M29551	NM_021132	"CCDS7328|CCDS44436|CCDS44437"	P16298	"1659808|2558868"	MGI:107163	RGD:3383		PPP3CB	114106															3.1.3.16
HGNC:9330	PQBP1	polyglutamine binding protein 1	protein-coding gene	gene with protein product	Approved	Xp11.23	Xp11.23			"RENS1|MRXS8|SHS|MRX55|MRX2|MRXS3"	"Sutherland-Haan X-linked mental retardation syndrome|mental retardation, X-linked 55|mental retardation, X-linked 2 (non-dysmorphic)"	"X-linked mental retardation|Spliceosomal B complex"	"103|1507"	1999-01-12			2016-10-14	10084	ENSG00000102103	OTTHUMG00000024128	uc004dlg.4	AJ005893	NM_001032381.1	"CCDS14309|CCDS55412"	O60828	"9875212|15024694|14634649"	MGI:1859638	RGD:1549750	Mental Retardation database|http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=PQBP1	PQBP1	300463					117983
HGNC:9369	PRIM1	DNA primase subunit 1	protein-coding gene	gene with protein product	Approved	12q13.3	12q13.3				"primase, DNA, polypeptide 1 (49kDa)|primase (DNA) subunit 1"			1990-07-26		2017-08-08	2017-08-08	5557	ENSG00000198056	OTTHUMG00000170034	uc001smd.4	BC005266	NM_000946	CCDS44926	P49642	8530050	MGI:97757	RGD:621380		PRIM1	176635
HGNC:9403	PRKCH	protein kinase C eta	protein-coding gene	gene with protein product	Approved	14q23.1	14q23.1	"PKC-L|PKCL"		PRKCL	protein kinase C, eta	C2 domain containing protein kinases	835	1992-06-26		2016-01-27	2016-01-27	5583	ENSG00000027075	OTTHUMG00000152341	uc001xfn.4	M55284	NM_006255	CCDS9752	P24723	"1986216|1545821"	MGI:97600	RGD:621888		PRKCH	605437										objectId:1487					2.7.11.1
HGNC:17896	PRPF19	pre-mRNA processing factor 19	protein-coding gene	gene with protein product	Approved	11q12.2	11q12.2	"UBOX4|NMP200|PSO4|hPSO4|SNEV"	"nuclear matrix protein NMP200 related to splicing factor PRP19|psoralen 4"	PRP19	"PRP19/PSO4 homolog (S. cerevisiae)|PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae)"	"WD repeat domain containing|U-box domain containing|NineTeen complex|Spliceosomal C complex"	"362|365|1361|1510"	2004-02-16	2005-04-01	2013-06-10	2016-10-19	27339	ENSG00000110107	OTTHUMG00000167798	uc001nqf.4	BC018698	NM_014502	CCDS7995	Q9UMS4	12960389	MGI:106247	RGD:708496		PRPF19	608330
HGNC:9561	PSMD4	proteasome 26S subunit, non-ATPase 4	protein-coding gene	gene with protein product	Approved	1q21.3	01q21.3	"S5A|AF-1|AF|Rpn10"			proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	Proteasome	690	1995-11-28		2015-08-12	2016-10-05	5710	ENSG00000159352	OTTHUMG00000012349	uc001exl.4	U51007	NM_002810	"CCDS991|CCDS81375"	P55036	8641424	MGI:1201670	RGD:621109		PSMD4	601648
HGNC:9563	PSMD5	proteasome 26S subunit, non-ATPase 5	protein-coding gene	gene with protein product	Approved	9q33.2	09q33.2	"S5B|KIAA0072"			proteasome (prosome, macropain) 26S subunit, non-ATPase, 5	"Proteasome|Armadillo-like helical domain containing"	"690|1492"	1995-12-05		2015-08-12	2016-10-05	5711	ENSG00000095261	OTTHUMG00000020573	uc004bko.5	AK001065	NM_005047	"CCDS6824|CCDS59143"	Q16401	7559544	MGI:1914248	RGD:1308434		PSMD5	604452
HGNC:9577	PSPH	phosphoserine phosphatase	protein-coding gene	gene with protein product	Approved	7p11.2	07p11.2			PSP		HAD Asp-based non-protein phosphatases	1045	2001-06-22			2014-11-19	5723	ENSG00000146733	OTTHUMG00000023441	uc003trh.4	Y10275	NM_004577	CCDS5522	P78330	"6297854|9188776"	MGI:97788	RGD:1308764		PSPH	172480					118111										3.1.3.3
HGNC:9603	PTGIS	prostaglandin I2 synthase	protein-coding gene	gene with protein product	Approved	20q13.13	20q13.13	"PGIS|CYP8A1"	"cytochrome P450, family 8, subfamily A, polypeptide 1|prostacyclin synthase"		prostaglandin I2 (prostacyclin) synthase	Cytochrome P450 family 8	1006	1994-07-28		2016-09-12	2016-10-05	5740	ENSG00000124212	OTTHUMG00000033077	uc002xut.4		NM_000961	CCDS13419	Q16647	8812456	MGI:1097156	RGD:3438	Human Cytochrome P450 (CYP) Allele Nomenclature Committee|http://www.cypalleles.ki.se/	PTGIS	601699										objectId:1356					5.3.99.4
HGNC:9667	PTPRCAP	protein tyrosine phosphatase, receptor type C associated protein	protein-coding gene	gene with protein product	Approved	11q13.2	11q13.2	"LPAP|CD45-AP"						1996-04-22		2016-01-06	2016-01-06	5790	ENSG00000213402	OTTHUMG00000150325	uc001oli.2		NM_005608	CCDS8163	Q14761		MGI:97811	RGD:1559601		PTPRCAP	601577
HGNC:9803	RAC3	Rac family small GTPase 3	protein-coding gene	gene with protein product	Approved	17q25.3	17q25.3				ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)	"Rho family GTPases|Endogenous ligands"	"390|542"	1997-07-11		2017-08-08	2017-08-08	5881	ENSG00000169750	OTTHUMG00000178455	uc002kdf.4	AF008591	NM_001316307	CCDS11798	P60763		MGI:2180784	RGD:1590052		RAC3	602050										ligandId:5252
HGNC:4568	RAPGEF1	Rap guanine nucleotide exchange factor 1	protein-coding gene	gene with protein product	Approved	9q34.13	09q34.13	C3G		GRF2	"guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)|Rap guanine nucleotide exchange factor (GEF) 1"			1994-12-13	2004-03-02	2015-11-09	2016-10-05	2889	ENSG00000107263	OTTHUMG00000020829	uc064wrm.1	BC041710	NM_005312	"CCDS48047|CCDS48048|CCDS78450"	Q13905	"7959692|7512734"	MGI:104580	RGD:619793		RAPGEF1	600303
HGNC:18662	RAX	retina and anterior neural fold homeobox	protein-coding gene	gene with protein product	Approved	18q21.32	18q21.32	RX				PRD class homeoboxes and pseudogenes	521	2002-05-22			2016-10-05	30062	ENSG00000134438	OTTHUMG00000132757	uc002lhx.3	AF115392	NM_013435	CCDS11972	Q9Y2V3	"10625658|10766016|14662654"	MGI:109632	RGD:620371		RAX	601881		8631			160006
HGNC:9891	RBBP8	RB binding protein 8, endonuclease	protein-coding gene	gene with protein product	Approved	18q11.2	18q11.2	"CtIP|RIM|COM1"	CTBP-interacting protein	SCKL2	"retinoblastoma-binding protein 8|Seckel syndrome 2|retinoblastoma binding protein 8"	BRCA1 C complex	1336	1998-02-12		2016-05-25	2016-05-25	5932	ENSG00000101773	OTTHUMG00000131769	uc002ktw.4	AF043431	NM_203291	"CCDS11874|CCDS11875"	Q99708	"9721205|17965729|21998596"	MGI:2442995	RGD:1308872		RBBP8	604124					292698										3.1.-.-
HGNC:9950	RECQL5	RecQ like helicase 5	protein-coding gene	gene with protein product	Approved	17q25	17q25	"RecQ5|FLJ90603"	RecQ protein 5			RecQ like helicases	1049	1999-05-06	2014-03-07	2016-02-05	2016-02-05	9400	ENSG00000108469	OTTHUMG00000179795	uc060jzu.1	AB006533	NM_004259	"CCDS32735|CCDS42380|CCDS45777"	O94762	9878247	MGI:2156841	RGD:1310823		RECQL5	603781
HGNC:25964	RETREG1	reticulophagy regulator 1	protein-coding gene	gene with protein product	Approved	5p15.1	05p15.1	"FLJ20152|JK1"		FAM134B	"family with sequence similarity 134, member B|family with sequence similarity 134 member B"			2007-05-01	2017-03-16	2017-03-16	2018-04-21	54463	ENSG00000154153	OTTHUMG00000161788	uc003jfs.4	BC053326	NM_001034850	"CCDS43304|CCDS43305"	Q9H6L5	"19838196|24327336"	MGI:1913520	RGD:1565003	LRG_363|http://www.lrg-sequence.org/LRG/LRG_363		613114					218033
HGNC:9969	RFC1	replication factor C subunit 1	protein-coding gene	gene with protein product	Approved	4p14	04p14	"A1|PO-GA|RFC140|MHCBFB"			"replication factor C (activator 1) 1 (145kD)|replication factor C (activator 1) 1, 145kDa"	AAA ATPases	413	1994-10-14		2015-11-09	2016-10-05	5981	ENSG00000035928	OTTHUMG00000099363	uc003gtx.3	L23320	NM_002913	"CCDS3450|CCDS56329"	P35251	8114700	MGI:97891	RGD:620619		RFC1	102579
HGNC:10020	RIPK2	receptor interacting serine/threonine kinase 2	protein-coding gene	gene with protein product	Approved	8q21.3	08q21.3	"RICK|RIP2|CARDIAK|CARD3"			receptor-interacting serine-threonine kinase 2	Caspase recruitment domain containing	959	1999-05-07		2015-11-17	2016-10-05	8767	ENSG00000104312	OTTHUMG00000163809	uc003yee.4	AC004003	NM_003821	CCDS6247	O43353	"9575181|9705938"	MGI:1891456	RGD:1309167		RIPK2	603455										objectId:2190
HGNC:10069	RNF6	ring finger protein 6	protein-coding gene	gene with protein product	Approved	13q12.13	13q12.13	DKFZp686P0776	RING-H2 protein RNF-6		ring finger protein (C3H2C3 type) 6	Ring finger proteins	58	1998-08-26		2016-04-05	2016-10-05	6049	ENSG00000127870	OTTHUMG00000016614	uc001uqq.4	AJ010346	NM_005977	CCDS9316	Q9Y252	10331950	MGI:1921382	RGD:1306092		RNF6	604242
HGNC:10258	RORA	RAR related orphan receptor A	protein-coding gene	gene with protein product	Approved	15q22.2	15q22.2	"RZRA|ROR1|ROR2|ROR3|NR1F1"			RAR-related orphan receptor A	Nuclear hormone receptors	71	1995-04-13		2016-01-25	2016-10-05	6095	ENSG00000069667	OTTHUMG00000132769	uc002agx.4	U04897	NM_134261	"CCDS10177|CCDS10178|CCDS10179|CCDS45271"	P35398	7926749	MGI:104661	RGD:1308419		RORA	600825					470992					objectId:598
HGNC:16175	RSPO4	R-spondin 4	protein-coding gene	gene with protein product	Approved	20p13	20p13	dJ824F16.3		C20orf182	"chromosome 20 open reading frame 182|R-spondin family, member 4"	Endogenous ligands	542	2001-07-17	2005-08-08	2011-06-29	2014-11-19	343637	ENSG00000101282	OTTHUMG00000031651	uc002wej.4	AK122609	XM_297816	"CCDS42845|CCDS42846"	Q2I0M5	15469841	MGI:1924467	RGD:1563415		RSPO4	610573					118419					ligandId:3700
HGNC:10521	SAG	S-antigen visual arrestin	protein-coding gene	gene with protein product	Approved	2q37.1	02q37.1	"ARRESTIN|RP47"	"arrestin 1|rod arrestin"		S-antigen; retina and pineal gland (arrestin)	Classical arrestins	1312	1989-09-19		2016-07-08	2016-07-08	6295	ENSG00000130561	OTTHUMG00000153213	uc002vuh.3		NM_000541	CCDS46545	P10523	2249983	MGI:98227	RGD:3619	Mutations of the Arrestin Gene|http://www.retina-international.org/files/sci-news/sagmut.htm	SAG	181031					118449
HGNC:15924	SALL4	spalt like transcription factor 4	protein-coding gene	gene with protein product	Approved	20q13.2	20q13.2	"dJ1112F19.1|ZNF797"			"sal (Drosophila)-like 4|sal-like 4 (Drosophila)"	Zinc fingers C2H2-type	28	2001-06-21		2016-05-23	2018-04-21	57167	ENSG00000101115	OTTHUMG00000032752	uc002xwh.6	AK001666	NM_001318031	"CCDS13438|CCDS82629"	Q9UJQ4		MGI:2139360	RGD:1597672	LRG_675|http://www.lrg-sequence.org/LRG/LRG_675	SALL4	607343					118456
HGNC:15925	SAMHD1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	protein-coding gene	gene with protein product	Approved	20q11.23	20q11.23	"SBBI88|Mg11|HDDC1|MOP-5|AGS5"	"HD domain containing 1|monocyte protein 5|Aicardi-Goutieres syndrome 5"		SAM domain and HD domain 1	Sterile alpha motif domain containing	760	2001-07-31		2016-05-03	2018-04-21	25939	ENSG00000101347	OTTHUMG00000032402	uc002xgh.3	AF228421	NM_015474	CCDS13288	Q9Y3Z3	"11064105|11230166|22056990"	MGI:1927468	RGD:1308369	LRG_281|http://www.lrg-sequence.org/LRG/LRG_281	SAMHD1	606754					201570										3.1.5.-
HGNC:10535	SAR1B	secretion associated Ras related GTPase 1B	protein-coding gene	gene with protein product	Approved	5q31.1	05q31.1			SARA2	"SAR1a gene homolog (S. cerevisiae) 2|SAR1a gene homolog 2 (S. cerevisiae)|SAR1 homolog B (S. cerevisiae)|secretion associated, Ras related GTPase 1B"	ARF GTPase family	357	2000-06-28	2005-10-21	2016-01-28	2016-01-28	51128	ENSG00000152700	OTTHUMG00000129114	uc003kzr.4	AF092130	NM_016103	CCDS4177	Q9Y6B6		MGI:1913647	RGD:1305590		SAR1B	607690					118465
HGNC:10542	SBF1	SET binding factor 1	protein-coding gene	gene with protein product	Approved	22q13.33	22q13.33	"MTMR5|DENND7A"	"myotubularin related 5|DENN/MADD domain containing 7A"			"DENN/MADD domain containing|Pleckstrin homology domain containing|Myotubularins"	"504|682|903"	1998-07-28			2016-04-25	6305	ENSG00000100241	OTTHUMG00000150204	uc003blh.5	U93181	NM_002972	CCDS14091	O95248	"9537414|9736772"	MGI:1925230	RGD:1307090		SBF1	603560					364562
HGNC:2135	SBF2	SET binding factor 2	protein-coding gene	gene with protein product	Approved	11p15.4	11p15.4	"KIAA1766|MTMR13|DENND7B"	myotubularin related 13	CMT4B2	"Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)|DENN/MADD domain containing 7B"	"DENN/MADD domain containing|Pleckstrin homology domain containing|Myotubularins"	"504|682|903"	1999-10-29	2004-11-12	2004-11-12	2018-04-21	81846	ENSG00000133812	OTTHUMG00000165890	uc001mib.2	AB051553	NM_030962	CCDS31427	Q86WG5	10644431	MGI:1921831	RGD:1588657	"Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_267|http://www.lrg-sequence.org/LRG/LRG_267"	SBF2	607697					118482
HGNC:10604	SCO2	SCO2, cytochrome c oxidase assembly protein	protein-coding gene	gene with protein product	Approved	22q13.33	22q13.33	SCO1L		MYP6	"SCO (cytochrome oxidase deficient, yeast) homolog 2|SCO cytochrome oxidase deficient homolog 2 (yeast)|myopia 6"	Mitochondrial respiratory chain complex assembly factors	645	1999-10-12		2016-08-11	2016-11-16	9997	ENSG00000130489	OTTHUMG00000191637	uc021wsa.2	AL021683	NM_005138	CCDS14095	O43819	"10218584|16091356|23643385"	MGI:3818630			SCO2	604272					118546
HGNC:10729	SEMA4A	semaphorin 4A	protein-coding gene	gene with protein product	Approved	1q22	01q22	"SemB|FLJ12287|CORD10"		SEMAB	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	Semaphorins	736	2004-04-22		2016-01-14	2016-01-14	64218	ENSG00000196189	OTTHUMG00000014042	uc001fnl.4	AK022416	NM_022367	"CCDS1132|CCDS53378"	Q9H3S1	7748561	MGI:107560	RGD:1304636		SEMA4A	607292					158388
HGNC:17862	SENP3	SUMO specific peptidase 3	protein-coding gene	gene with protein product	Approved	17p13	17p13	"DKFZP586K0919|SSP3|DKFZp762A152|SMT3IP1|Ulp1"			"SUMO1/sentrin/SMT3 specific protease 3|SUMO1/sentrin/SMT3 specific peptidase 3"	"SUMO specific peptidases|5FMC ribosome biogenesis complex"	"984|1301"	2004-03-11		2018-02-23	2018-02-23	26168	ENSG00000161956	OTTHUMG00000178333	uc032esp.2	AK000923	NM_015670	CCDS73958	Q9H4L4	"10806345|11230166"	MGI:2158736	RGD:1312040		SENP3	612844								C48.003							3.4.22.68
HGNC:10806	SGCB	sarcoglycan beta	protein-coding gene	gene with protein product	Approved	4q12	04q12	"SGC|A3b"		LGMD2E	sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)			1995-01-24		2015-11-13	2018-04-21	6443	ENSG00000163069	OTTHUMG00000128697	uc003gzj.3	U29586	NM_000232	CCDS3488	Q16585	8968749	MGI:1346523	RGD:1594202	"Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/SGCB|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=SGCB|LRG_204|http://www.lrg-sequence.org/LRG/LRG_204"	SGCB	600900					118653
HGNC:10889	SIX3	SIX homeobox 3	protein-coding gene	gene with protein product	Approved	2p21	02p21			HPE2	"holoprosencephaly 2, alobar or semilobar|sine oculis homeobox homolog 3 (Drosophila)"	SINE class homeoboxes	525	1998-04-21		2007-07-13	2015-09-02	6496	ENSG00000138083	OTTHUMG00000152424	uc002run.2	AF092047	NM_005413	CCDS1821	O95343	"9889003|10369266"	MGI:102764	RGD:620909		SIX3	603714		8513			118725
HGNC:10901	SKP2	S-phase kinase associated protein 2	protein-coding gene	gene with protein product	Approved	5p13.2	05p13.2	"FBXL1|FBL1|p45"			"S-phase kinase-associated protein 2 (p45)|S-phase kinase-associated protein 2, E3 ubiquitin protein ligase"	F-box and leucine rich repeat proteins	558	1995-12-18		2016-09-09	2016-10-05	6502	ENSG00000145604	OTTHUMG00000131106	uc003jkc.3	U33761	NM_005983	"CCDS3915|CCDS3916|CCDS58944"	Q13309	8646875	MGI:1351663	RGD:1562456		SKP2	601436
HGNC:11049	SLC6A3	solute carrier family 6 member 3	protein-coding gene	gene with protein product	Approved	5p15.33	05p15.33	DAT	dopamine transporter	DAT1	"solute carrier family 6 (neurotransmitter transporter, dopamine), member 3|dopamine transporter 1|solute carrier family 6 (neurotransmitter transporter), member 3"	Solute carriers	752	1994-03-16		2016-02-17	2016-10-05	6531	ENSG00000142319	OTTHUMG00000131016	uc003jck.4		NM_001044	CCDS3863	Q01959	1406597	MGI:94862	RGD:3715	LOVD - Leiden Open Variation Database|https://grenada.lumc.nl/LOVD2/shared1/home.php?select_db=SLC6A3	SLC6A3	126455				SLC6A3	244693					objectId:927
HGNC:10947	SLC20A2	solute carrier family 20 member 2	protein-coding gene	gene with protein product	Approved	8p11.21	08p11.21	"PiT-2|Glvr-2|Ram-1"		"MLVAR|GLVR2"	"solute carrier family 20 (phosphate transporter), member 2|murine leukemia virus, amphotropic; receptor"	Solute carriers	752	1993-06-18		2016-02-17	2016-03-16	6575	ENSG00000168575	OTTHUMG00000164169	uc003xpe.5		NM_001257180	CCDS6132	Q08357	"7745689|8041748|16790504"	MGI:97851	RGD:3699		SLC20A2	158378				SLC20A2	293028					objectId:1018
HGNC:9359	SLC26A5	solute carrier family 26 member 5	protein-coding gene	gene with protein product	Approved	7q22.1	07q22.1	DFNB61	deafness, neurosensory, autosomal recessive, 61	PRES	"prestin (motor protein)|solute carrier family 26 (anion exchanger), member 5"	"Solute carriers|Deafness associated genes"	"752|1152"	2000-06-08	2005-09-13	2016-02-17	2016-10-05	375611	ENSG00000170615	OTTHUMG00000149911	uc003vbz.4	AC005064	NM_198999	"CCDS5733|CCDS43630|CCDS55150|CCDS5732|CCDS43629"	P58743	10821263	MGI:1933154	RGD:69334		SLC26A5	604943				SLC26A5	160337					objectId:1104
HGNC:25355	SLC30A10	solute carrier family 30 member 10	protein-coding gene	gene with protein product	Approved	1q41	01q41	"DKFZp547M236|ZnT-10|ZRC1|ZNT8"	zinc transporter 8		solute carrier family 30, member 10	Solute carriers	752	2005-09-06		2015-12-08	2015-12-08	55532	ENSG00000196660	OTTHUMG00000037434	uc001hlw.4	AY212919	NM_018713	CCDS31026	Q6XR72	15154973	MGI:2685058	RGD:1305098		SLC30A10	611146				SLC30A10	311032					objectId:1130
HGNC:10959	SLCO1B1	solute carrier organic anion transporter family member 1B1	protein-coding gene	gene with protein product	Approved	12p12.1	12p12.1	"OATP-C|LST-1|OATP1B1"		SLC21A6	"solute carrier family 21 (organic anion transporter), member 6|solute carrier organic anion transporter family, member 1B1"	Solute carriers	752	1999-11-26	2003-11-26	2015-11-18	2018-04-21	10599	ENSG00000134538	OTTHUMG00000169047	uc001req.5		NM_006446	CCDS8685	Q9Y6L6	10358072	MGI:1351899		LRG_1022|http://www.lrg-sequence.org/LRG/LRG_1022	SLCO1B1	604843				SLCO1B1	241999					objectId:1220
HGNC:23503	SLITRK6	SLIT and NTRK like family member 6	protein-coding gene	gene with protein product	Approved	13q31.1	13q31.1	FLJ22774			SLIT and NTRK-like family, member 6			2004-01-08		2015-11-18	2015-11-18	84189	ENSG00000184564	OTTHUMG00000017157	uc001vll.2	AK026427	NM_032229	CCDS41903	Q9H5Y7	14557068	MGI:2443198	RGD:1306550		SLITRK6	609681					353699
HGNC:6772	SMAD6	SMAD family member 6	protein-coding gene	gene with protein product	Approved	15q22.31	15q22.31	HsT17432		"MADH7|MADH6"	"MAD, mothers against decapentaplegic homolog 6 (Drosophila)|SMAD, mothers against DPP homolog 6 (Drosophila)"	SMAD family	750	1997-08-22	2004-05-26	2006-11-06	2015-08-26	4091	ENSG00000137834	OTTHUMG00000133218	uc002aqf.4	BC012986	NM_005585	CCDS10221	O43541	9256479	MGI:1336883	RGD:1305069	The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=SMAD6	SMAD6	602931					310221
HGNC:11201	SOX5	SRY-box 5	protein-coding gene	gene with protein product	Approved	12p12.1	12p12.1	"L-SOX5|MGC35153"			"SRY (sex determining region Y)-box 5|SRY box 5"	SRY-boxes	757	1997-07-07		2015-11-23	2015-11-23	6660	ENSG00000134532	OTTHUMG00000169026	uc058lyf.1	AB081589	NM_006940	"CCDS8699|CCDS41761|CCDS44844|CCDS58216|CCDS58217|CCDS81672"	P35711	8812465	MGI:98367	RGD:620471		SOX5	604975					317704
HGNC:18122	SOX17	SRY-box 17	protein-coding gene	gene with protein product	Approved	8q11.23	08q11.23				"SRY (sex determining region Y)-box 17|SRY box 17"	SRY-boxes	757	2002-02-15		2015-11-23	2015-11-23	64321	ENSG00000164736	OTTHUMG00000164377	uc003xsb.5	AB073988	NM_022454	CCDS6159	Q9H6I2	11786926	MGI:107543	RGD:1305371		SOX17	610928					289375
HGNC:11237	SPG7	SPG7, paraplegin matrix AAA peptidase subunit	protein-coding gene	gene with protein product	Approved	16q24.3	16q24.3	"CAR|SPG5C"	paraplegin	CMAR	"cell matrix adhesion regulator|spastic paraplegia 7 (pure and complicated autosomal recessive)"	AAA ATPases	413	1998-06-25		2016-02-26	2016-02-26	6687	ENSG00000197912	OTTHUMG00000138046	uc002fnj.4	Y16610	NM_003119	"CCDS10977|CCDS10978"	Q9UQ90	"9635427|9634528"	MGI:2385906	RGD:727940	ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/	SPG7	602783					119829			M41.006
HGNC:11226	SPG11	SPG11, spatacsin vesicle trafficking associated	protein-coding gene	gene with protein product	Approved	15q21.1	15q21.1	FLJ21439	spatacsin	KIAA1840	"KIAA1840|spastic paraplegia 11 (autosomal recessive)"			1999-10-08		2017-01-31	2017-01-31	80208	ENSG00000104133	OTTHUMG00000131199	uc001ztx.4		NM_001160227	"CCDS10112|CCDS53939"	Q96JI7	"10408536|17322883"	MGI:2444989	RGD:1562529		SPG11	610844					119807
HGNC:11301	SRP54	signal recognition particle 54	protein-coding gene	gene with protein product	Approved	14q13.2	14q13.2				signal recognition particle 54kDa			1991-12-05		2016-06-22	2016-06-22	6729	ENSG00000100883	OTTHUMG00000140214	uc001wso.4	X86373	NM_003136	"CCDS9652|CCDS53893"	P61011	8722571	"MGI:1346087|MGI:3714357|MGI:3714359"	RGD:621390		SRP54	604857
HGNC:30668	SRPX2	sushi repeat containing protein, X-linked 2	protein-coding gene	gene with protein product	Approved	Xq22.1	Xq22.1	SRPUL			sushi-repeat-containing protein, X-linked 2	Sushi domain containing	1179	2004-06-25		2016-03-03	2016-03-03	27286	ENSG00000102359	OTTHUMG00000022003	uc004egb.4	AF393649	NM_014467	CCDS14471	O60687	9864177	MGI:1916042	RGD:1562444	Mental Retardation database|http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=SRPX2	SRPX2	300642					119862
HGNC:11311	SRY	sex determining region Y	protein-coding gene	gene with protein product	Approved	Yp11.2	Yp11.2	TDF	testis-determining factor			SRY-boxes	757	1990-09-10			2016-10-05	6736	ENSG00000184895	OTTHUMG00000036084	uc004fqg.3		NM_003140	CCDS14772	Q05066	18454134	MGI:98660	RGD:3759		SRY	480000					119865
HGNC:11344	ST14	suppression of tumorigenicity 14	protein-coding gene	gene with protein product	Approved	11q24.3	11q24.3	"SNC19|HAI|MT-SP1|TMPRSS14"	"epithin|matriptase"	PRSS14	suppression of tumorigenicity 14 (colon carcinoma)	Serine proteases	738	1998-05-05		2015-11-20	2016-10-05	6768	ENSG00000149418	OTTHUMG00000165768	uc001qfw.4	AF118224	NM_021978	CCDS8487	Q9Y5Y6	"9925927|10373424"	MGI:1338881	RGD:69288		ST14	606797					179413			S01.302		objectId:2418
HGNC:16950	STAMBP	STAM binding protein	protein-coding gene	gene with protein product	Approved	2p13.1	02p13.1	AMSH						2004-02-04			2016-10-05	10617	ENSG00000124356	OTTHUMG00000129817	uc061krg.1	BC007682	NM_006463	CCDS1929	O95630	10383417	MGI:1917777	RGD:619963		STAMBP	606247					353369			M67.006
HGNC:12502	SUMO1	small ubiquitin-like modifier 1	protein-coding gene	gene with protein product	Approved	2q33.1	02q33.1	"PIC1|GMP1|SMT3C|SUMO-1|SMT3H3|OFC10"		UBL1	"ubiquitin-like 1 (sentrin)|SMT3 suppressor of mif two 3 homolog 1 (yeast)|SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae)"			1996-06-04	2004-05-19	2013-06-05	2016-10-05	7341	ENSG00000116030	OTTHUMG00000132839	uc002uyz.2	U38784	NM_003352	"CCDS2352|CCDS46493"	P63165	"8812453|8906799"	MGI:1197010	RGD:1306919		SUMO1	601912					138689
HGNC:11509	SYT1	synaptotagmin 1	protein-coding gene	gene with protein product	Approved	12q21.2	12q21.2	P65		"SYT|SVP65"	synaptotagmin I	Synaptotagmins	765	1990-03-14		2015-11-20	2015-11-20	6857	ENSG00000067715	OTTHUMG00000134326	uc001syt.4		NM_005639	"CCDS9017|CCDS76582"	P21579	1840599	MGI:99667	RGD:3803		SYT1	185605					471178
HGNC:23143	SYT14	synaptotagmin 14	protein-coding gene	gene with protein product	Approved	1q32.2	01q32.2	"sytXIV|FLJ34198"			synaptotagmin XIV	Synaptotagmins	765	2003-09-17		2015-11-20	2015-11-20	255928	ENSG00000143469	OTTHUMG00000036652	uc009xcv.5	AK091517	NM_153262	"CCDS31014|CCDS53470|CCDS58058|CCDS53469"	Q8NB59		MGI:2444490	RGD:1592654		SYT14	610949					284278
HGNC:11592	TBX1	T-box 1	protein-coding gene	gene with protein product	Approved	22q11.21	22q11.21	CATCH22		VCF	velocardiofacial syndrome	T-boxes	766	1997-05-15			2018-04-21	6899	ENSG00000184058	OTTHUMG00000150421	uc002zqa.2	AF012131	NM_080647	"CCDS13765|CCDS13766|CCDS13767"	O43435	"9268629|23000736"	MGI:98493	RGD:1307734	LRG_226|http://www.lrg-sequence.org/LRG/LRG_226	TBX1	602054					119953
HGNC:26113	TCTN1	tectonic family member 1	protein-coding gene	gene with protein product	Approved	12q24.11	12q24.11	"FLJ21127|TECT1|JBTS13"				"Tectonic proteins|MKS complex"	"767|1545"	2007-08-20			2014-11-19	79600	ENSG00000204852	OTTHUMG00000150051	uc001trn.6	AK055891	NM_024549	"CCDS41833|CCDS41834|CCDS41835"	Q2MV58	16357211	MGI:3603820	RGD:1566266		TCTN1	609863					274226
HGNC:11719	TEC	tec protein tyrosine kinase	protein-coding gene	gene with protein product	Approved	4p12-p11	04p12-p11	PSCTK4				"Pleckstrin homology domain containing|SH2 domain containing|Tec family tyrosine kinases"	"682|741|1457"	1994-12-15			2018-02-13	7006	ENSG00000135605	OTTHUMG00000128623	uc003gxz.4	D29767	NM_003215	CCDS3481	P42680	7934162	MGI:98662	RGD:620973		TEC	600583										objectId:2238
HGNC:11740	TF	transferrin	protein-coding gene	gene with protein product	Approved	3q22.1	03q22.1	"PRO1557|PRO2086"				Transferrins	908	2001-06-22			2016-10-05	7018	ENSG00000091513	OTTHUMG00000150356	uc003epv.2		NM_001063	CCDS3080	P02787	6585826	MGI:98821	RGD:3845		TF	190000					120027
HGNC:30750	TIPIN	TIMELESS interacting protein	protein-coding gene	gene with protein product	Approved	15q22.31	15q22.31	FLJ20516	CSM3 homolog (S. cerevisiae)					2006-08-08		2006-08-08	2014-11-19	54962	ENSG00000075131	OTTHUMG00000133188	uc002apr.3	BK001386	NM_017858	CCDS10215	Q9BVW5	"12875843|17102137"	MGI:1921571	RGD:1564084		TIPIN	610716
HGNC:11827	TJP1	tight junction protein 1	protein-coding gene	gene with protein product	Approved	15q13.1	15q13.1	"ZO-1|MGC133289|DKFZp686M05161"	"zona occludens 1|tight junction protein ZO-1"			"Membrane associated guanylate kinases|PDZ domain containing"	"904|1220"	1995-04-26		2012-07-12	2016-10-05	7082	ENSG00000104067	OTTHUMG00000137397	uc001zcr.4		NM_003257	"CCDS42007|CCDS45199|CCDS73702|CCDS81858"	Q07157	8825647	MGI:98759	RGD:1306305		TJP1	601009
HGNC:28472	TMEM43	transmembrane protein 43	protein-coding gene	gene with protein product	Approved	3p25.1	03p25.1	"MGC3222|DKFZp586G1919|LUMA"		ARVD5	arrhythmogenic right ventricular dysplasia 5			2005-01-24			2018-04-21	79188	ENSG00000170876	OTTHUMG00000129802	uc003byk.3	BC008054	NM_024334	CCDS2618	Q9BTV4	"11230166|18313022"	MGI:1921372	RGD:1549711	"ARVD/C Genetic Variants Database|http://grenada.lumc.nl/LOVD2/ARVC/home.php?select_db=TMEM43|LRG_435|http://www.lrg-sequence.org/LRG/LRG_435"	TMEM43	612048					159517
HGNC:11896	TNFAIP3	TNF alpha induced protein 3	protein-coding gene	gene with protein product	Approved	6q23.3	06q23.3	"A20|OTUD7C"			tumor necrosis factor, alpha-induced protein 3	OTU domain containing	669	1992-10-20		2015-11-23	2016-10-05	7128	ENSG00000118503	OTTHUMG00000015664	uc031spv.2	M59465	NM_001270507	CCDS5187	P21580	2118515	MGI:1196377	RGD:1589275		TNFAIP3	191163					369146			C64.003
HGNC:18152	TNFRSF12A	TNF receptor superfamily member 12A	protein-coding gene	gene with protein product	Approved	16p13.3	16p13.3	"FN14|TweakR|CD266"			tumor necrosis factor receptor superfamily, member 12A	"CD molecules|Tumor necrosis factor receptor superfamily"	"471|782"	2002-12-20		2016-06-28	2016-06-28	51330	ENSG00000006327	OTTHUMG00000129001	uc002csv.5	AB035480	NM_016639	CCDS10489	Q9NP84	"10751351|10551889"	MGI:1351484	RGD:631329		TNFRSF12A	605914										objectId:1884			CD266
HGNC:11929	TNFSF13B	TNF superfamily member 13b	protein-coding gene	gene with protein product	Approved	13q33.3	13q33.3	"BAFF|THANK|BLYS|TALL-1|TALL1|CD257"		TNFSF20	tumor necrosis factor (ligand) superfamily, member 13b	"CD molecules|Tumor necrosis factor superfamily"	"471|781"	1999-07-19		2017-03-02	2017-03-02	10673	ENSG00000102524	OTTHUMG00000017329	uc001vqr.4	AF136293	NM_001145645	"CCDS9509|CCDS45067"	Q9Y275	"10331498|10359578"	MGI:1344376	RGD:1561519		TNFSF13B	603969										ligandId:5069			CD257
HGNC:17103	TNPO3	transportin 3	protein-coding gene	gene with protein product	Approved	7q32.1	07q32.1	"TRN-SR|MTR10A|TRN-SR2|IPO12"	importin 12	LGMD1F	limb girdle muscular dystrophy 1F (autosomal dominant)	"Importins|Armadillo-like helical domain containing"	"596|1492"	2003-12-09			2016-10-05	23534	ENSG00000064419	OTTHUMG00000158409	uc003vol.3	AF145029	NM_012470	"CCDS5809|CCDS55162"	Q9Y5L0	"10366588|10713112|23543484|23667635"	MGI:1196412	RGD:1308938		TNPO3	610032					239874
HGNC:3098	TOR1A	torsin family 1 member A	protein-coding gene	gene with protein product	Approved	9q34.11	09q34.11	DQ2	torsin A	DYT1	"dystonia 1, torsion (autosomal dominant; torsin A)|torsin family 1, member A (torsin A)"			1987-09-11	2004-11-26	2016-01-25	2018-04-21	1861	ENSG00000136827	OTTHUMG00000020794	uc004byl.4	AF007871	NM_000113	CCDS6930	O14656	10644435	MGI:1353568	RGD:628863	LRG_1029|http://www.lrg-sequence.org/LRG/LRG_1029	TOR1A	605204					120201
HGNC:11998	TP53	tumor protein p53	protein-coding gene	gene with protein product	Approved	17p13.1	17p13.1	"p53|LFS1"	Li-Fraumeni syndrome					1986-01-01		2008-01-16	2020-10-29	7157	ENSG00000141510	OTTHUMG00000162125	uc060aur.1	AF307851	NM_000546	"CCDS73971|CCDS11118|CCDS45606|CCDS45605|CCDS73963|CCDS73964|CCDS73965|CCDS73966|CCDS73967|CCDS73968|CCDS73969|CCDS73970"	P04637	"6396087|3456488|2047879"	MGI:98834	RGD:3889	"IARC TP53 Mutation Database|http://www-p53.iarc.fr/|p53 UMD TP53 mutation database|http://p53.fr/|Database of Germline p53 Mutations|http://www.lf2.cuni.cz/projects/germline_mut_p53.htm|MUTP53LOAD, Mutant p53 Loss Of Activity Database|http://www.umd.be:2072/|LRG_321|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_321.xml"	TP53	191170					120204															HGNC:11998
HGNC:12014	TPMT	thiopurine S-methyltransferase	protein-coding gene	gene with protein product	Approved	6p22.3	06p22.3					Seven-beta-strand methyltransferase motif containing	1400	1993-08-25			2018-04-21	7172	ENSG00000137364	OTTHUMG00000014317	uc003ncm.4		NM_000367	CCDS4543	P51580	8316220	MGI:98812	RGD:1585162	LRG_874|http://www.lrg-sequence.org/LRG/LRG_874	TPMT	187680					120231										2.1.1.67
HGNC:30832	TRAPPC9	trafficking protein particle complex 9	protein-coding gene	gene with protein product	Approved	8q24.3	08q24.3	"IKBKBBP|NIBP|KIAA1882|T1|TRS120|MRT13"	"TRAPP 120 kDa subunit|tularik gene 1"			Trafficking protein particle complex	772	2008-05-07			2018-04-21	83696	ENSG00000167632	OTTHUMG00000164187	uc003yvj.3	BC006206	NM_031466	"CCDS34946|CCDS55278"	Q96Q05	11572484	MGI:1923760	RGD:1309461	LRG_1041|http://www.lrg-sequence.org/LRG/LRG_1041	TRAPPC9	611966					218049
HGNC:30698	TRAT1	T cell receptor associated transmembrane adaptor 1	protein-coding gene	gene with protein product	Approved	3q13.13	03q13.13	"HSPC062|TRIM"		TCRIM	TCRIM			2004-11-03	2005-05-04	2017-12-06	2017-12-06	50852	ENSG00000163519	OTTHUMG00000159198	uc003dxi.2	AJ240084	NM_016388	"CCDS33813|CCDS82814"	Q6PIZ9	"10663578|9687533"	MGI:1924897	RGD:1563011		TRAT1	604962
HGNC:16276	TRIM5	tripartite motif containing 5	protein-coding gene	gene with protein product	Approved	11p15.4	11p15.4	"RNF88|TRIM5alpha"	"tripartite motif protein TRIM5|tripartite motif protein TRIM"		tripartite motif-containing 5	"Ring finger proteins|Tripartite motif containing"	"58|59"	2001-07-20		2011-01-25	2016-10-05	85363	ENSG00000132256	OTTHUMG00000066893	uc001mbm.3	AF220025	NM_033034	"CCDS31392|CCDS31393|CCDS31394"	Q9C035	11331580	MGI:3646853	RGD:1304579		TRIM5	608487
HGNC:12311	TRIP6	thyroid hormone receptor interactor 6	protein-coding gene	gene with protein product	Approved	7q22.1	07q22.1	"ZRP-1|OIP1|MGC10556|MGC10558|MGC29959|MGC3837|MGC4423"				Zyxin family	1402	1997-10-16			2016-10-05	7205	ENSG00000087077	OTTHUMG00000157029	uc003uww.4	"L40374|AF000974"	NM_003302	CCDS5708	Q15654	"9598321|7776974"	MGI:1343458	RGD:1583180		TRIP6	602933
HGNC:12305	TRIP11	thyroid hormone receptor interactor 11	protein-coding gene	gene with protein product	Approved	14q32.12	14q32.12	"CEV14|Trip230|GMAP-210|GMAP210"	golgi-microtubule-associated-protein of 210 kDa					1999-03-19			2017-07-07	9321	ENSG00000100815	OTTHUMG00000171128	uc001xzy.4	L40380	NM_001321851	CCDS9899	Q15643	"7776974|9373237"	MGI:1924393	RGD:1586166		TRIP11	604505					225372
HGNC:12338	TRPC6	transient receptor potential cation channel subfamily C member 6	protein-coding gene	gene with protein product	Approved	11q22.1	11q22.1	TRP6		FSGS2	"focal segmental glomerulosclerosis 2|transient receptor potential cation channel, subfamily C, member 6"	Transient receptor potential cation channels	249	1998-08-05		2016-01-28	2016-01-28	7225	ENSG00000137672	OTTHUMG00000167483	uc001pgk.4	AJ006276	NM_004621	CCDS8311	Q9Y210	"9925922|16382100|15879175"	MGI:109523	RGD:619788		TRPC6	603652					120298					objectId:491
HGNC:15971	TSG101	tumor susceptibility 101	protein-coding gene	gene with protein product	Approved	11p15.1	11p15.1	VPS23		TSG10	"tumor susceptibility gene 10|tumor susceptibility gene 101"	ESCRT-I	1116	2001-07-20		2013-08-22	2016-10-05	7251	ENSG00000074319	OTTHUMG00000167725	uc001mor.4	U82130	NM_006292	CCDS7842	Q99816	"9019400|9241264"	MGI:106581	RGD:3909		TSG101	601387
HGNC:23639	TTC37	tetratricopeptide repeat domain 37	protein-coding gene	gene with protein product	Approved	5q15	05q15	THES	thespin	KIAA0372	KIAA0372	Tetratricopeptide repeat domain containing	769	2003-12-17	2008-06-11	2008-06-11	2018-04-21	9652	ENSG00000198677	OTTHUMG00000121165	uc003klb.4	AB002370	NM_014639	CCDS4072	Q6PGP7	9205841	MGI:2679923	RGD:1306062	LRG_173|http://www.lrg-sequence.org/LRG/LRG_173	TTC37	614589					238544
HGNC:12494	UBE2V1	ubiquitin conjugating enzyme E2 V1	protein-coding gene	gene with protein product	Approved	20q13.13	20q13.13	"UEV-1|CROC-1|UEV1A|CROC1"		UBE2V	ubiquitin-conjugating enzyme E2 variant 1	Ubiquitin conjugating enzymes E2	102	1998-03-20		2016-03-14	2016-10-05	7335	ENSG00000244687	OTTHUMG00000152626	uc002xva.5	U39360	NM_021988	"CCDS13426|CCDS13427|CCDS33483|CCDS58775|CCDS74740"	Q13404	"9418904|9305758"	MGI:1913839	RGD:1305503		UBE2V1	602995
HGNC:25616	UBE2W	ubiquitin conjugating enzyme E2 W	protein-coding gene	gene with protein product	Approved	8q21.11	08q21.11	"FLJ11011|UBC-16"	"E2 ubiquitin-conjugating enzyme W|N-terminal E2 ubiquitin-conjugating enzyme|N-terminus-conjugating E2|Ubiquitin carrier protein W|Ubiquitin-conjugating enzyme 16|Ubiquitin-protein ligase W"		"ubiquitin-conjugating enzyme E2W (putative)|ubiquitin conjugating enzyme E2 W (putative)"	Ubiquitin conjugating enzymes E2	102	2005-10-06		2016-12-16	2016-12-16	55284	ENSG00000104343	OTTHUMG00000164517	uc064nta.1	AK001873	NM_001001481	"CCDS47874|CCDS47875"	Q96B02	12477932	MGI:1914049	RGD:6503620		UBE2W	614277
HGNC:16806	UBR5	ubiquitin protein ligase E3 component n-recognin 5	protein-coding gene	gene with protein product	Approved	8q22.3	08q22.3	"DD5|HYD|EDD|KIAA0896"		EDD1	E3 ubiquitin protein ligase, HECT domain containing, 1	Ubiquitin protein ligase E3 component n-recognins	785	2005-07-08	2007-06-19	2007-06-19	2016-10-05	51366	ENSG00000104517	OTTHUMG00000164755	uc003ykr.3	AF006010	NM_015902	"CCDS34933|CCDS64946"	O95071	"10030672|16055722"	MGI:1918040	RGD:621236		UBR5	608413
HGNC:13481	UNC93B1	unc-93 homolog B1, TLR signaling regulator	protein-coding gene	gene with protein product	Approved	11q13.2	11q13.2	UNC93			"unc93 (C. elegans) homolog B1|unc-93 homolog B1 (C. elegans)"			2002-01-22		2017-08-04	2018-04-21	81622	ENSG00000110057	OTTHUMG00000167472	uc031xth.1	AJ271326	NM_030930	CCDS73334	Q9H1C4	11867227	MGI:1859307	RGD:1311984	"UNC93B1base: Mutation registry for UNC93B deficiency (Herpes simplex encephalitis)|http://structure.bmc.lu.se/idbase/UNC93B1base/|LRG_123|http://www.lrg-sequence.org/LRG/LRG_123"		608204					120419
HGNC:16356	USH1G	USH1 protein network component sans	protein-coding gene	gene with protein product	Approved	17q25.1	17q25.1	"Sans|FLJ33924|ANKS4A"			Usher syndrome 1G (autosomal recessive)	"Ankyrin repeat domain containing|Sterile alpha motif domain containing"	"403|760"	2001-12-07		2016-02-17	2016-02-17	124590	ENSG00000182040	OTTHUMG00000178864	uc032fra.2	AK091243	NM_173477	CCDS32725	Q495M9	12588794	MGI:2450757	RGD:1304551	CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=USH1G	USH1G	607696					120442
HGNC:12633	USP9Y	ubiquitin specific peptidase 9, Y-linked	protein-coding gene	gene with protein product	Approved	Yq11.221	Yq11.221	DFFRY	fat facets-like homolog (Drosophila)		ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)	"Ubiquitin specific peptidases|Minor histocompatibility antigens|Armadillo-like helical domain containing"	"366|870|1492"	1999-02-01		2009-03-17	2016-10-05	8287	ENSG00000114374	OTTHUMG00000036469	uc004fst.2	Y13618	NM_004654	CCDS14781	O00507	"8922996|9384609|19246359"	MGI:1313274	RGD:9087771		USP9Y	400005					120450			C19.028
HGNC:12612	USP14	ubiquitin specific peptidase 14	protein-coding gene	gene with protein product	Approved	18p11.32	18p11.32	TGT			"ubiquitin specific protease 14 (tRNA-guanine transglycosylase)|ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)"	Ubiquitin specific peptidases	366	1999-02-01		2016-02-23	2016-02-23	9097	ENSG00000101557	OTTHUMG00000178040	uc002kkf.2	U30888	NM_005151	"CCDS32780|CCDS32781"	P54578	12838346	MGI:1928898	RGD:1311825		USP14	607274								C19.015		objectId:2429
HGNC:12614	USP16	ubiquitin specific peptidase 16	protein-coding gene	gene with protein product	Approved	21q21	21q21	Ubp-M			ubiquitin specific protease 16	Ubiquitin specific peptidases	366	1999-07-09		2005-08-08	2015-08-26	10600	ENSG00000156256	OTTHUMG00000078802	uc002ymy.4	AF126736	NM_001001992	"CCDS13583|CCDS42912"	Q9Y5T5	12838346	MGI:1921362	RGD:1307192		USP16	604735								C19.021
HGNC:12625	USP28	ubiquitin specific peptidase 28	protein-coding gene	gene with protein product	Approved	11q23.2	11q23.2	KIAA1515			ubiquitin specific protease 28	Ubiquitin specific peptidases	366	2000-05-26		2005-08-08	2016-10-05	57646	ENSG00000048028	OTTHUMG00000168205	uc001poh.4	AB040948	NM_001301029	"CCDS31680|CCDS73394"	Q96RU2	"12838346|11597335"	MGI:2442293	RGD:1311555		USP28	610748								C19.054
HGNC:12690	VIL1	villin 1	protein-coding gene	gene with protein product	Approved	2q35	02q35	D2S1471		VIL		Gelsolin/villins	950	2001-06-22			2014-11-19	7429	ENSG00000127831	OTTHUMG00000133112	uc002via.4	X12901	NM_007127	CCDS2417	P09327	2846586	MGI:98930	RGD:1307048		VIL1	193040
HGNC:12718	VRK1	vaccinia related kinase 1	protein-coding gene	gene with protein product	Approved	14q32.2	14q32.2							1997-06-12			2012-07-05	7443	ENSG00000100749	OTTHUMG00000171459	uc001yft.4	AB000449	NM_003384	CCDS9947	Q99986	9344656	MGI:1261847	RGD:1306069		VRK1	602168					208345					objectId:2275
HGNC:12791	WRN	Werner syndrome RecQ like helicase	protein-coding gene	gene with protein product	Approved	8p12	08p12	"RECQL2|RECQ3"			Werner syndrome	"Exonucleases|RecQ like helicases"	"544|1049"	1991-08-21		2016-02-05	2018-04-21	7486	ENSG00000165392	OTTHUMG00000163894	uc003xio.5		NM_000553	CCDS6082	Q14191	9288107	MGI:109635	RGD:1564788	"Database of WS-associated WRN mutations|http://www.pathology.washington.edu/werner/ws_wrn.html|LRG_524|http://www.lrg-sequence.org/LRG/LRG_524"	WRN	604611					120545
HGNC:32550	ZBTB42	zinc finger and BTB domain containing 42	protein-coding gene	gene with protein product	Approved	14q32.33	14q32.33	ZNF925				"Zinc fingers C2H2-type|BTB domain containing"	"28|861"	2006-03-15			2015-08-26	100128927	ENSG00000179627	OTTHUMG00000170790	uc021sem.3	AX721091	NM_001137601	CCDS45174	B2RXF5		MGI:3644133	RGD:1582758		ZBTB42	613915					471346						591
HGNC:12873	ZIC2	Zic family member 2	protein-coding gene	gene with protein product	Approved	13q32.3	13q32.3	HPE5	Zinc finger protein of the cerebellum 2		"Zic family member 2 (odd-paired Drosophila homolog)|Zic family member 2 (odd-paired homolog, Drosophila)"	Zinc fingers C2H2-type	28	1998-04-27		2011-05-19	2018-04-21	7546	ENSG00000043355	OTTHUMG00000017279	uc001von.4	AF104902	NM_007129	CCDS9495	O95409	9771712	MGI:106679	RGD:1311174	LRG_1157|http://www.lrg-sequence.org/LRG/LRG_1157	ZIC2	603073					120610
HGNC:29277	ZNF687	zinc finger protein 687	protein-coding gene	gene with protein product	Approved	1q21.3	01q21.3	KIAA1441						2005-05-06			2016-10-05	57592	ENSG00000143373	OTTHUMG00000012347	uc001exq.4		NM_020832	CCDS992	Q8N1G0	10718198	MGI:1925516	RGD:2323182		ZNF687	610568					451453
HGNC:11117	SMN1	survival of motor neuron 1, telomeric	protein-coding gene	gene with protein product	Approved	5q13.2	05q13.2	"BCD541|SMNT|SMA1|SMA2|SMA3|GEMIN1|TDRD16A"	"gemin-1|tudor domain containing 16A"	"SMA@|SMA"	spinal muscular atrophy (Werdnig-Hoffmann disease, Kugelberg-Welander disease)	"Tudor domain containing|SMN complex|Proteins encoded by multiple genes"	"780|1500|2293"	1996-12-12			2023-01-20	6606	ENSG00000172062	OTTHUMG00000099361	uc003kak.4	U18423	NM_000344		Q16637	7813012	MGI:109257	RGD:620755	"SMN1 - Spinal Muscular Atrophy (SMA)|http://www.LOVD.nl/SMN1|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=SMN1|ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/|LRG_676|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_676.xml"		600354					133452															HGNC:11117	"ENST00000380707.9|NM_000344.4"	HGNC:11117
HGNC:11118	SMN2	survival of motor neuron 2, centromeric	protein-coding gene	gene with protein product	Approved	5q13.2	05q13.2	"BCD541|SMNC|GEMIN1|TDRD16B"	tudor domain containing 16B			"Tudor domain containing|SMN complex|Proteins encoded by multiple genes"	"780|1500|2293"	1996-12-12			2023-01-20	6607	ENSG00000205571	OTTHUMG00000099389	uc003jyd.4		NM_017411		Q16637	7813012	MGI:109257		"ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/|LRG_677|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_677.xml"		601627					119750															HGNC:11118	"ENST00000380743.9|NM_017411.4"	
