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Genes and mapped phenotypes

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Name/Gene ID	Description	Location	Aliases	MIM
Select item 79178 THTPA ID: 79178	thiamine triphosphatase [Homo sapiens (human)]	Chromosome 14, NC_000014.9 (23511760..23560271)	THTPSE, THTPA	611612
Select item 3383 ICAM1 ID: 3383	intercellular adhesion molecule 1 [Homo sapiens (human)]	Chromosome 19, NC_000019.10 (10271120..10286615)	BB2, CD54, P3.58	147840
Select item 5621 PRNP ID: 5621	prion protein (Kanno blood group) [Homo sapiens (human)]	Chromosome 20, NC_000020.11 (4686456..4701588)	ASCR, AltPrP, CD230, CJD, GSS, KURU, PRIP, PrP, PrP27-30, PrP33-35C, PrPc, p27-30	176640
Select item 9212 AURKB ID: 9212	aurora kinase B [Homo sapiens (human)]	Chromosome 17, NC_000017.11 (8204731..8210575, complement)	AIK2, AIM-1, AIM1, ARK-2, ARK2, AurB, IPL1, PPP1R48, STK-1, STK12, STK5, aurkb-sv1, aurkb-sv2	604970
Select item 7874 USP7 ID: 7874	ubiquitin specific peptidase 7 [Homo sapiens (human)]	Chromosome 16, NC_000016.10 (8892097..8963906, complement)	C16DELp13.2, DEL16P13.2, HAFOUS, HAUSP, TEF1	602519
Select item 5245 PHB1 ID: 5245	prohibitin 1 [Homo sapiens (human)]	Chromosome 17, NC_000017.11 (49404052..49414882, complement)	BAP32, HEL-215, HEL-S-54e, PHB	176705
Select item 10892 MALT1 ID: 10892	MALT1 paracaspase [Homo sapiens (human)]	Chromosome 18, NC_000018.10 (58671465..58754477)	IMD12, MLT, MLT1, PCASP1	604860
Select item 382 ARF6 ID: 382	ARF GTPase 6 [Homo sapiens (human)]	Chromosome 14, NC_000014.9 (49893082..49897054)		600464
Select item 7846 TUBA1A ID: 7846	tubulin alpha 1a [Homo sapiens (human)]	Chromosome 12, NC_000012.12 (49184795..49189080, complement)	B-ALPHA-1, LIS3, TUBA3	602529
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 291 SLC25A4 ID: 291	solute carrier family 25 member 4 [Homo sapiens (human)]	Chromosome 4, NC_000004.12 (185143266..185150382)	AAC1, ANT, ANT 1, ANT1, MTDPS12, MTDPS12A, PEO2, PEO3, PEOA2, T1	103220
Select item 8078 USP5 ID: 8078	ubiquitin specific peptidase 5 [Homo sapiens (human)]	Chromosome 12, NC_000012.12 (6852150..6866632)	ISOT	601447
Select item 23064 SETX ID: 23064	senataxin [Homo sapiens (human)]	Chromosome 9, NC_000009.12 (132261356..132356744, complement)	ALS4, AOA2, SCAN2, SCAR1, STEX, Sen1, bA479K20.2	608465
Select item 5631 PRPS1 ID: 5631	phosphoribosyl pyrophosphate synthetase 1 [Homo sapiens (human)]	Chromosome X, NC_000023.11 (107628510..107651026)	ARTS, CMTX5, DFN2, DFNX1, PPRibP, PRS-I, PRSI	311850
Select item 8242 KDM5C ID: 8242	lysine demethylase 5C [Homo sapiens (human)]	Chromosome X, NC_000023.11 (53176277..53225207, complement)	DXS1272E, JARID1C, MRX13, MRXJ, MRXSCJ, MRXSJ, SMCX, XE169	314690
Select item 27183 VPS4A ID: 27183	vacuolar protein sorting 4 homolog A [Homo sapiens (human)]	Chromosome 16, NC_000016.10 (69311350..69326939)	CIMDAG, SKD1, SKD1A, SKD2, VPS4, VPS4-1	609982
Select item 6687 SPG7 ID: 6687	SPG7 matrix AAA peptidase subunit, paraplegin [Homo sapiens (human)]	Chromosome 16, NC_000016.10 (89508388..89557768)	CAR, CMAR, PGN, SPG5C	602783
Select item 8318 CDC45 ID: 8318	cell division cycle 45 [Homo sapiens (human)]	Chromosome 22, NC_000022.11 (19479466..19520612)	CDC45LL2, MGORS7, PORC-PI-1, CDC45	603465
Select item 84790 TUBA1C ID: 84790	tubulin alpha 1c [Homo sapiens (human)]	Chromosome 12, NC_000012.12 (49227926..49274600)	TUBA6, bcm948
Select item 64783 RBM15 ID: 64783	RNA binding motif protein 15 [Homo sapiens (human)]	Chromosome 1, NC_000001.11 (110339377..110346677)	OTT, OTT1, SPEN	606077