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Genes and mapped phenotypes

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See also 341 discontinued or replaced items.

Name/Gene ID	Description	Location	Aliases	MIM
Select item 55892 MYNN ID: 55892	myoneurin [Homo sapiens (human)]	Chromosome 3, NC_000003.12 (169773396..169789716)	OSZF, SBBIZ1, ZBTB31, ZNF902	606042
Select item 347737 DFNA31 ID: 347737	deafness, autosomal dominant 31 [Homo sapiens (human)]			608645
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 57476 GRAMD1B ID: 57476	GRAM domain containing 1B [Homo sapiens (human)]	Chromosome 11, NC_000011.10 (123358422..123627767)	LINC01059	620179
Select item 578 BAK1 ID: 578	BCL2 antagonist/killer 1 [Homo sapiens (human)]	Chromosome 6, NC_000006.12 (33572552..33580276, complement)	BAK, BAK-LIKE, BCL2L7, CDN1	600516
Select item 3662 IRF4 ID: 3662	interferon regulatory factor 4 [Homo sapiens (human)]	Chromosome 6, NC_000006.12 (391752..411443)	LSIRF, MUM1, NF-EM5, SHEP8	601900
Select item 7124 TNF ID: 7124	tumor necrosis factor [Homo sapiens (human)]	Chromosome 6, NC_000006.12 (31575565..31578336)	DIF-alpha, TNFA, TNFSF2, TNLG1F, TNF	191160
Select item 3431 SP110 ID: 3431	SP110 nuclear body protein [Homo sapiens (human)]	Chromosome 2, NC_000002.12 (230165186..230225636, complement)	IFI41, IFI75, IPR1, VODI	604457
Select item 3105 HLA-A ID: 3105	major histocompatibility complex, class I, A [Homo sapiens (human)]	Chromosome 6, NC_000006.12 (29942532..29945870)	HLAA	142800
Select item 11262 SP140 ID: 11262	SP140 nuclear body protein [Homo sapiens (human)]	Chromosome 2, NC_000002.12 (230186151..230316571)	LYSP100, LYSP100-A, LYSP100-B	608602
Select item 9855 FARP2 ID: 9855	FERM, ARH/RhoGEF and pleckstrin domain protein 2 [Homo sapiens (human)]	Chromosome 2, NC_000002.12 (241356285..241494841)	FIR, FRG, PLEKHC3	617586
Select item 55289 ACOXL ID: 55289	acyl-CoA oxidase like [Homo sapiens (human)]	Chromosome 2, NC_000002.12 (110732573..111118548)	ACOX4
Select item 7917 BAG6 ID: 7917	BAG cochaperone 6 [Homo sapiens (human)]	Chromosome 6, NC_000006.12 (31639028..31652661, complement)	BAG-6, BAT3, D6S52E, G3	142590
Select item 3075 CFH ID: 3075	complement factor H [Homo sapiens (human)]	Chromosome 1, NC_000001.11 (196652043..196747504)	AHUS1, AMBP1, ARMD4, ARMS1L3, FH, FHL1, HF, HF1, HF2, HUS, CFH	134370
Select item 3134 HLA-F ID: 3134	major histocompatibility complex, class I, F [Homo sapiens (human)]	Chromosome 6, NC_000006.12 (29723434..29738532)	CDA12, HLA-5.4, HLA-CDA12, HLAF	143110
Select item 160335 TMTC2 ID: 160335	transmembrane O-mannosyltransferase targeting cadherins 2 [Homo sapiens (human)]	Chromosome 12, NC_000012.12 (82686906..83134866)	IBDBP1	615856
Select item 1026 CDKN1A ID: 1026	cyclin dependent kinase inhibitor 1A [Homo sapiens (human)]	Chromosome 6, NC_000006.12 (36676463..36687332)	CAP20, CDKN1, CIP1, MDA-6, P21, SDI1, WAF1, p21CIP1	116899
Select item 1956 EGFR ID: 1956	epidermal growth factor receptor [Homo sapiens (human)]	Chromosome 7, NC_000007.14 (55019017..55211628)	ERBB, ERBB1, ERRP, HER1, NISBD2, PIG61, mENA	131550
Select item 3106 HLA-B ID: 3106	major histocompatibility complex, class I, B [Homo sapiens (human)]	Chromosome 6, NC_000006.12 (31353875..31357179, complement)	AS, B-4901, HLAB	142830
Select item 7422 VEGFA ID: 7422	vascular endothelial growth factor A [Homo sapiens (human)]	Chromosome 6, NC_000006.12 (43770211..43786487)	MVCD1, VEGF, VPF	192240