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Genes and mapped phenotypes

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Name/Gene ID	Description	Location	Aliases	MIM
Select item 954 ENTPD2 ID: 954	ectonucleoside triphosphate diphosphohydrolase 2 [Homo sapiens (human)]	Chromosome 9, NC_000009.12 (137048107..137054061, complement)	CD39L1, NTPDase-2	602012
Select item 3091 HIF1A ID: 3091	hypoxia inducible factor 1 subunit alpha [Homo sapiens (human)]	Chromosome 14, NC_000014.9 (61695513..61748258)	HIF-1-alpha, HIF-1A, HIF-1alpha, HIF1, HIF1-ALPHA, MOP1, PASD8, bHLHe78	603348
Select item 3123 HLA-DRB1 ID: 3123	major histocompatibility complex, class II, DR beta 1 [Homo sapiens (human)]	Chromosome 6, NC_000006.12 (32578775..32589848, complement)	DRB1, HLA-DR1B, HLA-DRB, SS1	142857
Select item 3077 HFE ID: 3077	homeostatic iron regulator [Homo sapiens (human)]	Chromosome 6, NC_000006.12 (26087429..26098343)	HFE1, HH, HLA-H, MVCD7, TFQTL2	613609
Select item 3135 HLA-G ID: 3135	major histocompatibility complex, class I, G [Homo sapiens (human)]	Chromosome 6, NC_000006.12 (29826474..29831021)	MHC-G	142871
Select item 3117 HLA-DQA1 ID: 3117	major histocompatibility complex, class II, DQ alpha 1 [Homo sapiens (human)]	Chromosome 6, NC_000006.12 (32637406..32655272)	CELIAC1, DQ-A1, DQA1, HLA-DQA*, HLA-DQB1, HLA-DQA1	146880
Select item 1385 CREB1 ID: 1385	cAMP responsive element binding protein 1 [Homo sapiens (human)]	Chromosome 2, NC_000002.12 (207529962..207605988)	CREB, CREB-1	123810
Select item 3956 LGALS1 ID: 3956	galectin 1 [Homo sapiens (human)]	Chromosome 22, NC_000022.11 (37675636..37679802)	GAL1, GBP	150570
Select item 5156 PDGFRA ID: 5156	platelet derived growth factor receptor alpha [Homo sapiens (human)]	Chromosome 4, NC_000004.12 (54229293..54298245)	CD140A, PDGFR-2, PDGFR2	173490
Select item 7046 TGFBR1 ID: 7046	transforming growth factor beta receptor 1 [Homo sapiens (human)]	Chromosome 9, NC_000009.12 (99103647..99154192)	AAT5, ACVRLK4, ALK-5, ALK5, ESS1, LDS1, LDS1A, LDS2A, MSSE, SKR4, TBR-i, TBRI, TGFR-1, tbetaR-I	190181
Select item 6786 STIM1 ID: 6786	stromal interaction molecule 1 [Homo sapiens (human)]	Chromosome 11, NC_000011.10 (3854604..4093210)	D11S4896E, GOK, IMD10, STRMK, TAM, TAM1	605921
Select item 5770 PTPN1 ID: 5770	protein tyrosine phosphatase non-receptor type 1 [Homo sapiens (human)]	Chromosome 20, NC_000020.11 (50510383..50585241)	PTP1B	176885
Select item 3122 HLA-DRA ID: 3122	major histocompatibility complex, class II, DR alpha [Homo sapiens (human)]	Chromosome 6, NC_000006.12 (32439887..32445046)	HLA-DRA1	142860
Select item 100506658 OCLN ID: 100506658	occludin [Homo sapiens (human)]	Chromosome 5, NC_000005.10 (69492547..69558104)	BLCPMG, PPP1R115, PTORCH1	602876
Select item 3351 HTR1B ID: 3351	5-hydroxytryptamine receptor 1B [Homo sapiens (human)]	Chromosome 6, NC_000006.12 (77460924..77463491, complement)	5-HT-1B, 5-HT-1D-beta, 5-HT1B, 5-HT1DB, HTR1D2, HTR1DB, S12	182131
Select item 953 ENTPD1 ID: 953	ectonucleoside triphosphate diphosphohydrolase 1 [Homo sapiens (human)]	Chromosome 10, NC_000010.11 (95694186..95877266)	ATP-DPH, ATPDase, CD39, NTPDase-1, SPG64	601752
Select item 6440 SFTPC ID: 6440	surfactant protein C [Homo sapiens (human)]	Chromosome 8, NC_000008.11 (22157383..22164479)	BRICD6, PSP-C, SFTP2, SMDP2, SP-C, SP5	178620
Select item 3125 HLA-DRB3 ID: 3125	major histocompatibility complex, class II, DR beta 3 [Homo sapiens (human)]		DRB3, HLA-DPB1, HLA-DR1B, HLA-DR3B*, HLA-DRB3	612735
Select item 478 ATP1A3 ID: 478	ATPase Na+/K+ transporting subunit alpha 3 [Homo sapiens (human)]	Chromosome 19, NC_000019.10 (41966582..41994230, complement)	AHC2, ATP1A1, CAPOS, DEE99, DYT12, RDP	182350
Select item 1889 ECE1 ID: 1889	endothelin converting enzyme 1 [Homo sapiens (human)]	Chromosome 1, NC_000001.11 (21217250..21345504, complement)	ECE	600423