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Gene

Genes and mapped phenotypes

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Items: 20

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Name/Gene ID	Description	Location	Aliases	MIM
Select item 8630 HSD17B6 ID: 8630	hydroxysteroid 17-beta dehydrogenase 6 [Homo sapiens (human)]	Chromosome 12, NC_000012.12 (56763324..56787790)	HSE, RODH, SDR9C6	606623
Select item 1586 CYP17A1 ID: 1586	cytochrome P450 family 17 subfamily A member 1 [Homo sapiens (human)]	Chromosome 10, NC_000010.11 (102830531..102837413, complement)	CPT7, CYP17, P450C17, S17AH	609300
Select item 6716 SRD5A2 ID: 6716	steroid 5 alpha-reductase 2 [Homo sapiens (human)]	Chromosome 2, NC_000002.12 (31522480..31663009, complement)		607306
Select item 8644 AKR1C3 ID: 8644	aldo-keto reductase family 1 member C3 [Homo sapiens (human)]	Chromosome 10, NC_000010.11 (5048781..5107686)	DD3, DDX, HA1753, HAKRB, HAKRe, HSD17B5, PGFS, hluPGFS	603966
Select item 1583 CYP11A1 ID: 1583	cytochrome P450 family 11 subfamily A member 1 [Homo sapiens (human)]	Chromosome 15, NC_000015.10 (74337762..74367646, complement)	CYP11A, CYPXIA1, P450SCC	118485
Select item 490 ATP2B1 ID: 490	ATPase plasma membrane Ca2+ transporting 1 [Homo sapiens (human)]	Chromosome 12, NC_000012.12 (89588049..89709366, complement)	MRD66, PMCA1, PMCA1kb	108731
Select item 493 ATP2B4 ID: 493	ATPase plasma membrane Ca2+ transporting 4 [Homo sapiens (human)]	Chromosome 1, NC_000001.11 (203626832..203744081)	ATP2B2, MXRA1, PMCA4, PMCA4b, PMCA4x	108732
Select item 3284 HSD3B2 ID: 3284	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 [Homo sapiens (human)]	Chromosome 1, NC_000001.11 (119414931..119423034)	HSD3B, HSDB, SDR11E2	613890
Select item 4744 NEFH ID: 4744	neurofilament heavy chain [Homo sapiens (human)]	Chromosome 22, NC_000022.11 (29480218..29491390)	CMT2CC, NFH	162230
Select item 491 ATP2B2 ID: 491	ATPase plasma membrane Ca2+ transporting 2 [Homo sapiens (human)]	Chromosome 3, NC_000003.12 (10324023..10708007, complement)	DFNA82, PMCA2, PMCA2a, PMCA2i	108733
Select item 479 ATP12A ID: 479	ATPase H+/K+ transporting non-gastric alpha2 subunit [Homo sapiens (human)]	Chromosome 13, NC_000013.11 (24680408..24712472)	ATP1AL1, H-K-ATPase, HK	182360
Select item 8724 SNX3 ID: 8724	sorting nexin 3 [Homo sapiens (human)]	Chromosome 6, NC_000006.12 (108211222..108261040, complement)	Grd19, MCOPS8, SDP3	605930
Select item 492 ATP2B3 ID: 492	ATPase plasma membrane Ca2+ transporting 3 [Homo sapiens (human)]	Chromosome X, NC_000023.11 (153517642..153582929)	CFAP39, CLA2, OPCA, PMCA3, PMCA3a, SCAX1	300014
Select item 448834 KPRP ID: 448834	keratinocyte proline rich protein [Homo sapiens (human)]	Chromosome 1, NC_000001.11 (152758025..152762056)	C1orf45	613260
Select item 64841 GNPNAT1 ID: 64841	glucosamine-phosphate N-acetyltransferase 1 [Homo sapiens (human)]	Chromosome 14, NC_000014.9 (52775193..52791607, complement)	GNA1, GNPNAT, Gpnat1, RHZDAN	616510
Select item 83639 TEX101 ID: 83639	testis expressed 101 [Homo sapiens (human)]	Chromosome 19, NC_000019.10 (43388611..43418597)	CT131, GTPR867, NYD-SP8, PRO1884, SGRG, SPATA44, TES101RP	612665
Select item 26472 PPP1R14B ID: 26472	protein phosphatase 1 regulatory inhibitor subunit 14B [Homo sapiens (human)]	Chromosome 11, NC_000011.10 (64244479..64246943, complement)	PHI-1, PLCB3N, PNG, SOM172	601140
Select item 83940 TATDN1 ID: 83940	TatD DNase domain containing 1 [Homo sapiens (human)]	Chromosome 8, NC_000008.11 (124488494..124539088, complement)	CDA11	619364
Select item 56952 PRTFDC1 ID: 56952	phosphoribosyl transferase domain containing 1 [Homo sapiens (human)]	Chromosome 10, NC_000010.11 (24848614..24952606, complement)	HHGP	610751
Select item 283458 NME2P1 ID: 283458	NME2 pseudogene 1 [Homo sapiens (human)]	Chromosome 12, NC_000012.12 (120282218..120282856)