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Links from dbGaP

Items: 1 to 20 of 30

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    Name/Gene IDDescriptionLocationAliasesMIM
    ID: 79784
    myosin heavy chain 14 [Homo sapiens (human)]Chromosome 19, NC_000019.10 (50203622..50310540)DFNA4, DFNA4A, FP17425, MHC16, MYH17, NMHC II-C, NMHC-II-C, PNMHH, myosin608568
    ID: 65125
    WNK lysine deficient protein kinase 1 [Homo sapiens (human)]Chromosome 12, NC_000012.12 (752579..911452)HSAN2, HSN2, KDP, PPP1R167, PRKWNK1, PSK, p65605232
    ID: 65055
    receptor accessory protein 1 [Homo sapiens (human)]Chromosome 2, NC_000002.12 (86213993..86338083, complement)C2orf23, DSMA6, HMN5B, HMND12, HMNR6, SPG31, Yip2a609139
    ID: 60482
    solute carrier family 5 member 7 [Homo sapiens (human)]Chromosome 2, NC_000002.12 (107986524..108013994)CHT, CHT1, CMS20, DHMNVP, HMN7A, HMND7, hCHT1608761
    ID: 59341
    transient receptor potential cation channel subfamily V member 4 [Homo sapiens (human)]Chromosome 12, NC_000012.12 (109783087..109833398, complement)BCYM3, CMT2C, HMSN2C, OTRPC4, SMAL, SPSMA, SSQTL1, TRP12, VRL2, VROAC605427
    ID: 54463
    reticulophagy regulator 1 [Homo sapiens (human)]Chromosome 5, NC_000005.10 (16473053..16616997, complement)FAM134B, JK-1, JK1613114
    ID: 51062
    atlastin GTPase 1 [Homo sapiens (human)]Chromosome 14, NC_000014.9 (50533082..50633068)AD-FSP, FSP1, GBP3, HSN1D, SPG3, SPG3A, atlastin1606439
    ID: 26580
    BSCL2 lipid droplet biogenesis associated, seipin [Homo sapiens (human)]Chromosome 11, NC_000011.10 (62690262..62709537, complement)GNG3LG, HMN5, HMN5C, HMND13, PELD, SPG17606158
    ID: 23299
    BICD cargo adaptor 2 [Homo sapiens (human)]Chromosome 9, NC_000009.12 (92711363..92764833, complement)SMALED2, SMALED2A, SMALED2B, bA526D8.1609797
    ID: 22948
    chaperonin containing TCP1 subunit 5 [Homo sapiens (human)]Chromosome 5, NC_000005.10 (10249921..10266412)CCT-epsilon, CCTE, HEL-S-69, HSNSP, PNAS-102, TCP-1-epsilon610150
    ID: 10558
    serine palmitoyltransferase long chain base subunit 1 [Homo sapiens (human)]Chromosome 9, NC_000009.12 (92031147..92115413, complement)ALS27, HSAN1, HSN1, LBC1, LCB1, SPT1, SPTI605712
    ID: 9517
    serine palmitoyltransferase long chain base subunit 2 [Homo sapiens (human)]Chromosome 14, NC_000014.9 (77505997..77616637, complement)HSN1C, LCB2, LCB2A, NSAN1C, SPT2, hLCB2a605713
    ID: 9150
    CTD phosphatase subunit 1 [Homo sapiens (human)]Chromosome 18, NC_000018.10 (79676768..79756625)CCFDN, FCP1604927
    ID: 9131
    apoptosis inducing factor mitochondria associated 1 [Homo sapiens (human)]Chromosome X, NC_000023.11 (130129362..130165841, complement)AIF, AUNX1, CMT2D, CMTX4, COWCK, COXPD6, DFNX5, NADMR, NAMSD, PDCD8, SEMDHL300169
    ID: 8988
    heat shock protein family B (small) member 3 [Homo sapiens (human)]Chromosome 5, NC_000005.10 (54455699..54456377)DHMN2C, HMN2C, HMND4, HSPL27604624
    ID: 8518
    elongator acetyltransferase complex subunit 1 [Homo sapiens (human)]Chromosome 9, NC_000009.12 (108867517..108934124, complement)DYS, FD, IKAP, IKBKAP, IKI3, TOT1603722
    ID: 6663
    SRY-box transcription factor 10 [Homo sapiens (human)]Chromosome 22, NC_000022.11 (37972312..37984555, complement)DOM, PCWH, SOX-10, WS2E, WS4, WS4C602229
    ID: 6335
    sodium voltage-gated channel alpha subunit 9 [Homo sapiens (human)]Chromosome 2, NC_000002.12 (166195185..166375987, complement)ETHA, FEB3B, GEFSP7, HSAN2D, NE-NA, NENA, Nav1.7, PN1, SFNP603415
    ID: 5631
    phosphoribosyl pyrophosphate synthetase 1 [Homo sapiens (human)]Chromosome X, NC_000023.11 (107628510..107651026)ARTS, CMTX5, DFN2, DFNX1, PPRibP, PRS-I, PRSI311850
    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, p27-30176640
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