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Genes and mapped phenotypes

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Name/Gene ID	Description	Location	Aliases	MIM
Select item 8575 PRKRA ID: 8575	protein activator of interferon induced protein kinase EIF2AK2 [Homo sapiens (human)]	Chromosome 2, NC_000002.12 (178431414..178451175, complement)	DYT16, HSD14, PACT, RAX	603424
Select item 7157 TP53 ID: 7157	tumor protein p53 [Homo sapiens (human)]	Chromosome 17, NC_000017.11 (7668421..7687490, complement)	BCC7, BMFS5, LFS1, P53, TRP53	191170
Select item 2099 ESR1 ID: 2099	estrogen receptor 1 [Homo sapiens (human)]	Chromosome 6, NC_000006.12 (151656672..152129619)	ER, ESR, ESRA, ESTRR, Era, NR3A1	133430
Select item 672 BRCA1 ID: 672	BRCA1 DNA repair associated [Homo sapiens (human)]	Chromosome 17, NC_000017.11 (43044295..43170327, complement)	BRCAI, BRCC1, BROVCA1, FANCS, IRIS, PNCA4, PPP1R53, PSCP, RNF53	113705
Select item 6622 SNCA ID: 6622	synuclein alpha [Homo sapiens (human)]	Chromosome 4, NC_000004.12 (89724099..89838304, complement)	NACP, PARK1, PARK4, PD1	163890
Select item 4137 MAPT ID: 4137	microtubule associated protein tau [Homo sapiens (human)]	Chromosome 17, NC_000017.11 (45894554..46028334)	DDPAC, FTDP-17L, MSTD, MTBT1, MTBT2, PPND, PPP1R103, TAU, Tau-PHF6, tau-40, MAPT	157140
Select item 4609 MYC ID: 4609	MYC proto-oncogene, bHLH transcription factor [Homo sapiens (human)]	Chromosome 8, NC_000008.11 (127735434..127742951)	MRTLC, bHLHe39, c-Myc, MYC	190080
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 5925 RB1 ID: 5925	RB transcriptional corepressor 1 [Homo sapiens (human)]	Chromosome 13, NC_000013.11 (48303751..48481890)	OSRC, PPP1R130, RB, p105-Rb, p110-RB1, pRb, pp110	614041
Select item 5071 PRKN ID: 5071	parkin RBR E3 ubiquitin protein ligase [Homo sapiens (human)]	Chromosome 6, NC_000006.12 (161347417..162727766, complement)	AR-JP, LPRS2, PARK2, PDJ	602544
Select item 4869 NPM1 ID: 4869	nucleophosmin 1 [Homo sapiens (human)]	Chromosome 5, NC_000005.10 (171387116..171410900)	B23, NPM	164040
Select item 7428 VHL ID: 7428	von Hippel-Lindau tumor suppressor [Homo sapiens (human)]	Chromosome 3, NC_000003.12 (10141778..10153667)	HRCA1, RCA11, pVHL, VHL	608537
Select item 4204 MECP2 ID: 4204	methyl-CpG binding protein 2 [Homo sapiens (human)]	Chromosome X, NC_000023.11 (154021573..154097717, complement)	AUTSX3, MRX16, MRX79, MRXS13, MRXSL, PPMX, RS, RTS, RTT	300005
Select item 6657 SOX2 ID: 6657	SRY-box transcription factor 2 [Homo sapiens (human)]	Chromosome 3, NC_000003.12 (181711925..181714436)	ANOP3, MCOPS3	184429
Select item 23405 DICER1 ID: 23405	dicer 1, ribonuclease III [Homo sapiens (human)]	Chromosome 14, NC_000014.9 (95086228..95158010, complement)	DCR1, Dicer, Dicer1e, GLOW, HERNA, K12H4.8-LIKE, MNG1, RMSE2, aviD	606241
Select item 328 APEX1 ID: 328	apurinic/apyrimidinic endodeoxyribonuclease 1 [Homo sapiens (human)]	Chromosome 14, NC_000014.9 (20455226..20457767)	APE, APE1, APEN, APEX, APX, HAP1, REF1	107748
Select item 4763 NF1 ID: 4763	neurofibromin 1 [Homo sapiens (human)]	Chromosome 17, NC_000017.11 (31094927..31377677)	NFNS, VRNF, WSS	613113
Select item 4297 KMT2A ID: 4297	lysine methyltransferase 2A [Homo sapiens (human)]	Chromosome 11, NC_000011.10 (118436492..118526832)	ALL-1, ALL1, CXXC7, GAS7, HRX, HTRX, HTRX1, MLL, MLL1, MLL1A, TRX1, WDSTS	159555
Select item 6794 STK11 ID: 6794	serine/threonine kinase 11 [Homo sapiens (human)]	Chromosome 19, NC_000019.10 (1205778..1228431)	LKB1, PJS, hLKB1	602216
Select item 648 BMI1 ID: 648	BMI1 proto-oncogene, polycomb ring finger [Homo sapiens (human)]	Chromosome 10, NC_000010.11 (22321099..22331484)	FLVI2/BMI1, PCGF4, RNF51, flvi-2/bmi-1	164831