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Genes and mapped phenotypes

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See also 223 discontinued or replaced items.

Name/Gene ID	Description	Location	Aliases	MIM
Select item 1136 CHRNA3 ID: 1136	cholinergic receptor nicotinic alpha 3 subunit [Homo sapiens (human)]	Chromosome 15, NC_000015.10 (78593052..78620996, complement)	BAIPRCK, LNCR2, NACHRA3, PAOD2	118503
Select item 115703 ARHGAP33 ID: 115703	Rho GTPase activating protein 33 [Homo sapiens (human)]	Chromosome 19, NC_000019.10 (35775564..35788822)	NOMA-GAP, SNX26, TCGAP	614902
Select item 64073 C19orf33 ID: 64073	chromosome 19 open reading frame 33 [Homo sapiens (human)]	Chromosome 19, NC_000019.10 (38304251..38305006)	H2RSP, IMUP, IMUP-1, IMUP-2	619711
Select item 26818 SNORD33 ID: 26818	small nucleolar RNA, C/D box 33 [Homo sapiens (human)]	Chromosome 19, NC_000019.10 (49490617..49490699)	RNU33, U33
Select item 100271229 RPL9P33 ID: 100271229	ribosomal protein L9 pseudogene 33 [Homo sapiens (human)]	Chromosome 19, NC_000019.10 (51621142..51621701)	RPL9_13_1663
Select item 401911 RPL29P33 ID: 401911	ribosomal protein L29 pseudogene 33 [Homo sapiens (human)]	Chromosome 19, NC_000019.10 (34296163..34296784, complement)	RPL29_22_1650
Select item 354 KLK3 ID: 354	kallikrein related peptidase 3 [Homo sapiens (human)]	Chromosome 19, NC_000019.10 (50854915..50860764)	APS, KLK2A1, PSA, hK3	176820
Select item 26291 FGF21 ID: 26291	fibroblast growth factor 21 [Homo sapiens (human)]	Chromosome 19, NC_000019.10 (48755524..48758330)		609436
Select item 4208 MEF2C ID: 4208	myocyte enhancer factor 2C [Homo sapiens (human)]	Chromosome 5, NC_000005.10 (88717117..88904105, complement)	C5DELq14.3, DEL5q14.3, NEDHSIL	600662
Select item 2524 FUT2 ID: 2524	fucosyltransferase 2 (H blood group) [Homo sapiens (human)]	Chromosome 19, NC_000019.10 (48695971..48705951)	B12QTL1, SE, SEC2, Se2, sej	182100
Select item 2523 FUT1 ID: 2523	fucosyltransferase 1 (H blood group) [Homo sapiens (human)]	Chromosome 19, NC_000019.10 (48748011..48755358, complement)	H, HH, HSC	211100
Select item 112398 EGLN2 ID: 112398	egl-9 family hypoxia inducible factor 2 [Homo sapiens (human)]	Chromosome 19, NC_000019.10 (40799191..40808434)	EIT-6, EIT6, HIF-PH1, HIFPH1, HPH-1, HPH-3, PHD1	606424
Select item 6311 ATXN2 ID: 6311	ataxin 2 [Homo sapiens (human)]	Chromosome 12, NC_000012.12 (111452214..111599673, complement)	ATX2, SCA2, TNRC13	601517
Select item 55554 KLK15 ID: 55554	kallikrein related peptidase 15 [Homo sapiens (human)]	Chromosome 19, NC_000019.10 (50825289..50833574, complement)	ACO, HSRNASPH	610601
Select item 284359 IZUMO1 ID: 284359	izumo sperm-oocyte fusion 1 [Homo sapiens (human)]	Chromosome 19, NC_000019.10 (48740852..48746909, complement)	IZUMO, OBF	609278
Select item 54922 RASIP1 ID: 54922	Ras interacting protein 1 [Homo sapiens (human)]	Chromosome 19, NC_000019.10 (48720585..48740610, complement)	RAIN	609623
Select item 770 CA11 ID: 770	carbonic anhydrase 11 [Homo sapiens (human)]	Chromosome 19, NC_000019.10 (48637946..48646187, complement)	CA-RP, CA-RP II, CA-XI, CARP-2, CARPX1	604644
Select item 83595 SOX7 ID: 83595	SRY-box transcription factor 7 [Homo sapiens (human)]	Chromosome 8, NC_000008.11 (10723768..10730511, complement)		612202
Select item 10144 FAM13A ID: 10144	family with sequence similarity 13 member A [Homo sapiens (human)]	Chromosome 4, NC_000004.12 (88725960..89057185, complement)	ARHGAP481, FAM13A	613299
Select item 284358 MAMSTR ID: 284358	MEF2 activating motif and SAP domain containing transcriptional regulator [Homo sapiens (human)]	Chromosome 19, NC_000019.10 (48705718..48719725, complement)	MASTR	610349