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Genes and mapped phenotypes

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Name/Gene ID	Description	Location	Aliases	MIM
Select item 56110 PCDHGA5 ID: 56110	protocadherin gamma subfamily A, 5 [Homo sapiens (human)]	Chromosome 5, NC_000005.10 (141364162..141512975)	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5	606292
Select item 6714 SRC ID: 6714	SRC proto-oncogene, non-receptor tyrosine kinase [Homo sapiens (human)]	Chromosome 20, NC_000020.11 (37344699..37406050)	ASV1, THC6, c-SRC, p60-Src, SRC	190090
Select item 2052 EPHX1 ID: 2052	epoxide hydrolase 1 [Homo sapiens (human)]	Chromosome 1, NC_000001.11 (225810124..225845563)	EPHX, EPOX, HYL1, MEH	132810
Select item 3655 ITGA6 ID: 3655	integrin subunit alpha 6 [Homo sapiens (human)]	Chromosome 2, NC_000002.12 (172427336..172506459)	CD49fA, ITGA6B, JEB6, VLA-6, ITGA6	147556
Select item 2050 EPHB4 ID: 2050	EPH receptor B4 [Homo sapiens (human)]	Chromosome 7, NC_000007.14 (100802565..100827523, complement)	CMAVM2, HFASD, HTK, LMPHM7, MYK1, TYRO11	600011
Select item 4502 MT2A ID: 4502	metallothionein 2A [Homo sapiens (human)]	Chromosome 16, NC_000016.10 (56608584..56609497)	MT-2, MT-II, MT2	156360
Select item 990 CDC6 ID: 990	cell division cycle 6 [Homo sapiens (human)]	Chromosome 17, NC_000017.11 (40287879..40304657)	CDC18L, HsCDC18, HsCDC6, MGORS5	602627
Select item 1605 DAG1 ID: 1605	dystroglycan 1 [Homo sapiens (human)]	Chromosome 3, NC_000003.12 (49468948..49535615)	156DAG, A3a, AGRNR, DAG, LGMDR16, MDDGA9, MDDGC7, MDDGC9	128239
Select item 4052 LTBP1 ID: 4052	latent transforming growth factor beta binding protein 1 [Homo sapiens (human)]	Chromosome 2, NC_000002.12 (32946953..33399509)	ARCL2E	150390
Select item 5609 MAP2K7 ID: 5609	mitogen-activated protein kinase kinase 7 [Homo sapiens (human)]	Chromosome 19, NC_000019.10 (7903877..7914478)	JNKK2, MAPKK7, MEK, MEK 7, MKK7, PRKMK7, SAPKK-4, SAPKK4	603014
Select item 10220 GDF11 ID: 10220	growth differentiation factor 11 [Homo sapiens (human)]	Chromosome 12, NC_000012.12 (55743122..55757264)	BMP-11, BMP11, VHO	603936
Select item 9833 MELK ID: 9833	maternal embryonic leucine zipper kinase [Homo sapiens (human)]	Chromosome 9, NC_000009.12 (36572895..36677682)	HPK38	607025
Select item 3679 ITGA7 ID: 3679	integrin subunit alpha 7 [Homo sapiens (human)]	Chromosome 12, NC_000012.12 (55684568..55716400, complement)		600536
Select item 9349 RPL23 ID: 9349	ribosomal protein L23 [Homo sapiens (human)]	Chromosome 17, NC_000017.11 (38847860..38853721, complement)	L23, rpL17, uL14	603662
Select item 6713 SQLE ID: 6713	squalene epoxidase [Homo sapiens (human)]	Chromosome 8, NC_000008.11 (124998505..125022283)		602019
Select item 93 ACVR2B ID: 93	activin A receptor type 2B [Homo sapiens (human)]	Chromosome 3, NC_000003.12 (38453890..38493142)	ACTRIIB, ActR-IIB, HTX4	602730
Select item 489 ATP2A3 ID: 489	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 [Homo sapiens (human)]	Chromosome 17, NC_000017.11 (3923873..3964437, complement)	SERCA3	601929
Select item 109 ADCY3 ID: 109	adenylate cyclase 3 [Homo sapiens (human)]	Chromosome 2, NC_000002.12 (24819169..24920237, complement)	AC-III, AC3, BMIQ19	600291
Select item 5007 OSBP ID: 5007	oxysterol binding protein [Homo sapiens (human)]	Chromosome 11, NC_000011.10 (59574398..59615774, complement)	OSBP1	167040
Select item 6610 SMPD2 ID: 6610	sphingomyelin phosphodiesterase 2 [Homo sapiens (human)]	Chromosome 6, NC_000006.12 (109440724..109443919)	ISC1, NSMASE, NSMASE1	603498