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Genes and mapped phenotypes

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Name/Gene ID	Description	Location	Aliases	MIM
Select item 64976 MRPL40 ID: 64976	mitochondrial ribosomal protein L40 [Homo sapiens (human)]	Chromosome 22, NC_000022.11 (19432545..19436075)	L40mt, MRP-L22, MRP-L40, MRPL22, NLVCF, URIM, mL40	605089
Select item 3845 KRAS ID: 3845	KRAS proto-oncogene, GTPase [Homo sapiens (human)]	Chromosome 12, NC_000012.12 (25205246..25250929, complement)	'C-K-RAS, C-K-RAS, CFC2, K-RAS2A, K-RAS2B, K-RAS4A, K-RAS4B, K-Ras, K-Ras 2, KI-RAS1, KRAS2, NS, NS3, OES, RALD, RASK2, c-Ki-ras, c-Ki-ras2, KRAS	190070
Select item 4137 MAPT ID: 4137	microtubule associated protein tau [Homo sapiens (human)]	Chromosome 17, NC_000017.11 (45894554..46028334)	DDPAC, FTD1, 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 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 7316 UBC ID: 7316	ubiquitin C [Homo sapiens (human)]	Chromosome 12, NC_000012.12 (124911646..124914650, complement)	HMG20	191340
Select item 3315 HSPB1 ID: 3315	heat shock protein family B (small) member 1 [Homo sapiens (human)]	Chromosome 7, NC_000007.14 (76302673..76304292)	CMT2F, HEL-S-102, HMN2B, HMND3, HS.76067, HSP27, HSP28, Hsp25, SRP27	602195
Select item 4904 YBX1 ID: 4904	Y-box binding protein 1 [Homo sapiens (human)]	Chromosome 1, NC_000001.11 (42682418..42703805)	BP-8, CBF-A, CSDA2, CSDB, DBPB, EFI-A, MDR-NF1, NSEP-1, NSEP1, YB-1, YB1	154030
Select item 4613 MYCN ID: 4613	MYCN proto-oncogene, bHLH transcription factor [Homo sapiens (human)]	Chromosome 2, NC_000002.12 (15940550..15947004)	FGLDS1, MODED, MPAPAsORF, MYCNsPEP, N-myc, NMYC, ODED, bHLHe37, MYCN	164840
Select item 2625 GATA3 ID: 2625	GATA binding protein 3 [Homo sapiens (human)]	Chromosome 10, NC_000010.11 (8045333..8075198)	HDR, HDRS	131320
Select item 10320 IKZF1 ID: 10320	IKAROS family zinc finger 1 [Homo sapiens (human)]	Chromosome 7, NC_000007.14 (50303455..50405101)	CVID13, Hs.54452, IK1, IKAROS, LYF1, LyF-1, PPP1R92, PRO0758, ZNFN1A1	603023
Select item 8945 BTRC ID: 8945	beta-transducin repeat containing E3 ubiquitin protein ligase [Homo sapiens (human)]	Chromosome 10, NC_000010.11 (101354048..101557313)	BETA-TRCP, FBW1A, FBXW1, FBXW1A, FWD1, bTrCP, bTrCP1, betaTrCP	603482
Select item 58 ACTA1 ID: 58	actin alpha 1, skeletal muscle [Homo sapiens (human)]	Chromosome 1, NC_000001.11 (229431245..229434094, complement)	ACTA, ASMA, CFTD, CFTD1, CFTDM, CMYO2A, CMYO2B, CMYO2C, CMYP2A, CMYP2B, CMYP2C, MPFD, NEM1, NEM2, NEM3, SHPM	102610
Select item 6390 SDHB ID: 6390	succinate dehydrogenase complex iron sulfur subunit B [Homo sapiens (human)]	Chromosome 1, NC_000001.11 (17018722..17054032, complement)	CWS2, IP, MC2DN4, PGL4, PPGL4, SDH, SDH1, SDH2, SDHIP	185470
Select item 7019 TFAM ID: 7019	transcription factor A, mitochondrial [Homo sapiens (human)]	Chromosome 10, NC_000010.11 (58385410..58399220)	MTDPS15, MTTF1, MTTFA, TCF6, TCF6L1, TCF6L2, TCF6L3	600438
Select item 6890 TAP1 ID: 6890	transporter 1, ATP binding cassette subfamily B member [Homo sapiens (human)]	Chromosome 6, NC_000006.12 (32845209..32853704, complement)	ABC17, ABCB2, APT1, D6S114E, MHC1D1, PSF-1, PSF1, RING4*0102N, TAP1N, TAP1	170260
Select item 476 ATP1A1 ID: 476	ATPase Na+/K+ transporting subunit alpha 1 [Homo sapiens (human)]	Chromosome 1, NC_000001.11 (116373244..116404774)	CMT2DD, HOMGSMR2	182310
Select item 708 C1QBP ID: 708	complement C1q binding protein [Homo sapiens (human)]	Chromosome 17, NC_000017.11 (5432777..5439155, complement)	COXPD33, GC1QBP, HABP1, SF2AP32, SF2p32, gC1Q-R, gC1qR, p32	601269
Select item 3192 HNRNPU ID: 3192	heterogeneous nuclear ribonucleoprotein U [Homo sapiens (human)]	Chromosome 1, NC_000001.11 (244850297..244864543, complement)	DEE54, EIEE54, GRIP120-AS1, HNRPU, SAF-A, SAFA, U21.1, hnRNP U, pp120, HNRNPU	602869
Select item 3609 ILF3 ID: 3609	interleukin enhancer binding factor 3 [Homo sapiens (human)]	Chromosome 19, NC_000019.10 (10654346..10692400)	CBTF, DRBF, DRBP76, MMP4, MPHOSPH4, MPP4, MPP4110, NF-AT-90, NF110, NF110b, NF90, NF90a, NF90b, NF90c, NF90ctv, NFAR, NFAR-1, NFAR-2, NFAR110, NFAR2, NFAR90, TCP110, TCP80	603182