All individuals

348933 entries on 3490 pages. Showing entries 1 - 100.
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Individual ID

ID_report

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Remarks

Gender

Consanguinity

Country

Population

Age at death

VIP

Data_av

Treatment

Disease

Phenotype details

Genes screened

Variants in genes

Variants

Panel size

Owner
00000001 - PubMed: Bell 2011 - - - - - - - - - ?, JBS - ACADM, ADA, ARSB, ATP7B, CYP21A2, DMD, ETFB, GALT, GLB1, IGHMBP2, LAMA2, NHLRC1, NPHP3, NPHS1, RAD51B, SLC26A2 ACADM, ADA, ARSB, ATP7B, CYP21A2, ETFB, GALT, GLB1, IGHMBP2, NHLRC1, NPHP3, NPHP3-ACAD11, NPHS1, SLC22A5, SLC26A2, TMPPE 34 1 Global Variome, with Curator vacancy
00000002 - PubMed: Bell 2011 - - - - - - - - - ? - ACADM, ADA, ARSB, ATP7B, CPT1A, CYP21A2, GBA, GLB1, HEXA, NHLRC1, SERPINA1 ACADM, ADA, ARSB, ATP7B, CPT1A, CYP21A2, GBA, GLB1, HEXA, NHLRC1, SERPINA1, TMPPE 12 1 Global Variome, with Curator vacancy
00000003 - PubMed: Bell 2011 - - - - - - - - - - - ACADM, CDH23, DPYD, ETFB, GBA, GLB1, HADHA, HESX1, IGHMBP2, NHLRC1, NPHS1, PKHD1, SERPINA1, SLC26A2 ACADM, ALMS1, CDH23, DPYD, ETFB, GBA, GLB1, HADHA, HESX1, IGHMBP2, NHLRC1, NPHS1, PKHD1, SERPINA1, SLC26A2, SMCHD1, TMPPE 15 1 Global Variome, with Curator vacancy
00000004 - PubMed: Bell 2011 - - - - - - - - - - - ACADM, AGL, DPYD, ETFB, GAA, HESX1, NHLRC1, NPHS1, SBDS, SLC26A2, SMPD1 AGL, DPYD, ETFB, GAA, HESX1, NHLRC1, NPHS1, SBDS, SLC26A2, SMPD1, TYRP1 13 1 Global Variome, with Curator vacancy
00000005 - PubMed: Bell 2011 - - - - - - - - - - - ACADM, ATP7B, CFTR, ETFB, GLB1, MEFV, NHLRC1, PKHD1, RAPSN, SERPINA1, SLC26A2, USH2A ACADM, ATP7B, CFTR, ETFB, GLB1, MEFV, NHLRC1, PKHD1, RAPSN, RPGR, SERPINA1, SLC26A2, TMPPE, USH2A 12 1 Global Variome, with Curator vacancy
00000006 - PubMed: Bell 2011 - - - - - - - - - - - ACADM, APTX, ATP7B, GALC, MTHFR, SERPINA1, SGSH, SLC26A2 ACADM, APTX, ATP7B, GALC, MTHFR, SERPINA1, SGSH, SLC26A2 9 1 Global Variome, with Curator vacancy
00000007 - PubMed: Bell 2011 - - - - - - - - - - - ACADM, ATP7B, CDH23, HESX1, HGSNAT, NPHS1, PAH, PKHD1, SERPINA1 ACADM, ATP7B, CDH23, HESX1, HGSNAT, NPHS1, PAH, PKHD1, SERPINA1 9 1 Global Variome, with Curator vacancy
00000008 - PubMed: Bell 2011 - - - - - - - - - - - ACADM, ADA, ATP7B, CFTR, ETFB, FKTN, HESX1, HGSNAT, MYO5A, NPHS1, SERPINA1, USH2A ACADM, ADA, ATP7B, CFTR, ETFB, FKTN, HESX1, HGSNAT, MYO5A, NPHS1, RHO, SERPINA1 13 1 Global Variome, with Curator vacancy
00000009 - PubMed: Bell 2011 - - - - - - - - - - - ACADM, ARSB, ATP7B, CFTR, CLN3, ETFB, GAN, GLB1, HEXB, IGHMBP2, MEFV, NHLRC1, NPHS1, NTRK1, PMP22, SERPINA1, WNT10A ACADM, ARSB, ATP7B, CFTR, CLN3, ETFB, GLB1, HEXB, IGHMBP2, MEFV, NHLRC1, NPHS1, NTRK1, PMP22, SERPINA1, TMPPE, WNT10A 18 1 Global Variome, with Curator vacancy
00000010 - PubMed: Bell 2011 - - - - - - - - - - - ACADM, ATP7B, BTD, CLN3, CPT1A, DGUOK, ERCC6, ETFB, NHLRC1, PAH ACADM, ATP7B, BTD, CLN3, CPT1A, DGUOK, ERCC6, ETFB, HTT, NHLRC1, PAH, VPS33B 13 1 Global Variome, with Curator vacancy
00000011 - PubMed: Bell 2011 - M - - - - 0 - - autism, BMD/DMD, CF, deafness - ACADM, ADA, ATP7B, ATR, BSND, CFTR, DMD, DPYD, GLB1, IGHMBP2, NHLRC1, SERPINA1, SMPD1 ADA, ATP7B, ATR, DMD, DPYD, GLB1, IGHMBP2, NHLRC1, PRKAR1A, SERPINA1, SMPD1, TMPPE 11 1 Global Variome, with Curator vacancy
00000012 - PubMed: Bell 2011 - - - - - - 0 - - autism, BMD/DMD - ACADVL, ADA, AGL, ATP7B, CYP21A2, DPYD, ETFB, GBA, HGSNAT, IGHMBP2, LAMA2, MYO5A, NHLRC1, NPHS1, SERPINA1, SLC26A2 ACADVL, ADA, ALMS1, ATP7B, CYP21A2, DPYD, ETFB, GBA, HGSNAT, IGHMBP2, LAMA2, MYO5A, NHLRC1, NPHS1, PRKAR1A, SAMHD1, SERPINA1, SLC26A2 16 1 Global Variome, with Curator vacancy
00000013 - PubMed: Bell 2011 - - - - - - 0 - - autism, BMD/DMD - AGL, ATP7B, COL7A1, HADHA, MEFV, NHLRC1, PAH, SMPD1 AGL, ATP7B, COL7A1, HADHA, MEFV, NHLRC1, PAH, SMPD1 8 1 Global Variome, with Curator vacancy
00000014 - PubMed: Bell 2011 - - - - - - 0 - - autism, BMD/DMD - ALG6, ATP7B, CFTR, DPYD, ETFB, GLB1, GNPTAB, HEXB, IGHMBP2, MYO5A, NHLRC1, NPHP4, NPHS1, PKHD1, SERPINA1, SFTPB, SGSH, TSFM ALG6, ATP7B, CFTR, DPYD, ETFB, GLB1, GNPTAB, HEXB, HTT, IGHMBP2, MYO5A, NHLRC1, NPHP4, NPHS1, PKHD1, PRKAR1A, SERPINA1, SFTPB, SGSH, SLC37A4, TMPPE, TSFM 22 1 Global Variome, with Curator vacancy
00000015 - PubMed: Bell 2011 - - - - - - 0 - - autism, BMD/DMD - ALG6, ARSB, ATP7B, BMPR2, DPYD, ETFB, GALC, GLB1, NHLRC1, NPHS1, SERPINA1, TGM1 ALG6, ARSB, ATP7B, BMPR2, DPYD, ETFB, GALC, GLB1, NHLRC1, NPHS1, PRKAR1A, SERPINA1, TMPPE 11 1 Global Variome, with Curator vacancy
00000016 - PubMed: Bell 2011 - - - - - - 0 - - autism, BMD/DMD - ADA, ALG6, ATP7B, CFTR, DPYD, ENPP1, GLB1, IGHMBP2, NPHS1, PKHD1 ADA, ALG6, ATP7B, CFTR, DPYD, ENPP1, GLB1, IGHMBP2, NPHS1, PKHD1, PRKAR1A, TMPPE 10 1 Global Variome, with Curator vacancy
00000017 - PubMed: Bell 2011 - - - - - - 0 - - autism, BMD/DMD - ALG6, ASPA, ATP7B, DPYD, GLB1, LAMA2, MMACHC, MPL, MYO5A, NHLRC1, NPHS1, SERPINA1, SMPD1 ALG6, ASPA, ATP7B, DPYD, GLB1, LAMA2, MMACHC, MYO5A, NHLRC1, NPHS1, PHOX2B, PRKAR1A, SERPINA1, SMPD1, TMPPE 14 1 Global Variome, with Curator vacancy
00000018 - PubMed: Bell 2011 - - - - - - 0 - - autism, BMD/DMD - ALG6, ASPA, ATP7B, DPYD, GLB1, LAMA2, MMACHC, MPL, MYO5A, NHLRC1, NPHS1, SERPINA1, SMPD1 ALG6, ASPA, ATP7B, DPYD, GLB1, LAMA2, MMACHC, MPL, MYO5A, NHLRC1, NPHS1, PHOX2B, PRKAR1A, SERPINA1, SMPD1, TMPPE 15 1 Global Variome, with Curator vacancy
00000019 - PubMed: Almomani 2011 - - - - - - 0 - - autism, BMD/DMD, TSC - AFF2, ALG12, ALG6, B3GLCT, B4GALT1, BBS12, CDK5RAP2, CENPJ, CRBN, DHCR7, EP300, IL1RAPL1, KDM5C, KRAS, MCPH1, MED12, NSD1, NUFIP1, POMT1, RAB3GAP2, RAF1, SATB2, SCN8A, SIL1, TSC1 AFF2, ALG12, B3GLCT, B4GALT1, BBS12, CDK5RAP2, CENPJ, CRBN, DHCR7, EP300, IL1RAPL1, KDM5C, KRAS, MCPH1, MED12, MFN2, NSD1, NUFIP1, POMT1, RAB3GAP2, RAF1, SATB2, SCN8A, SIL1, TSC1 44 1 Global Variome, with Curator vacancy
00000020 - PubMed: Bell 2011 - - - - - - 0 - - - - ALPL, ATP7B, ETFB, GLB1, IGHMBP2, MKS1, MYO5A, NHLRC1, NPHS1, SERPINA1, SLC26A2, SMPD1 ALPL, ATP7B, ETFB, GLB1, IGHMBP2, MKS1, MYO5A, NHLRC1, NPHS1, PRKAR1A, SERPINA1, SLC26A2, SMPD1, TMPPE 14 1 Global Variome, with Curator vacancy
00000021 - PubMed: Bell 2011 - - - - - - 0 - - BMD/DMD - ALPL, BTD, CBS, DKC1, ETFB, GLB1, SBDS, SERPINA1 ALPL, BSCL2, BTD, DKC1, ETFB, GLB1, PRKAR1A, SBDS, SERPINA1, TMPPE 7 1 Global Variome, with Curator vacancy
00000022 - PubMed: Bell 2011 - - - - - - 0 - - BMD/DMD - ALPL, ATP7B, CBS, DPYD, ETFB, GALC, GLB1, NPHS1, PAH, SERPINA1, SLC26A2 ALPL, ATP7B, DPYD, ETFB, GALC, GLB1, NPHS1, PAH, PHOX2B, SERPINA1, SLC26A2, TMPPE 13 1 Global Variome, with Curator vacancy
00000023 - PubMed: Bell 2011 - - - - - - 0 - - BMD/DMD - ALPL, ATP7B, CBS, CEP290, COL17A1, CYP21A2, DPYD, GBA, GLB1, NHLRC1, SERPINA1, SLC26A2, SLC3A1, SMPD1 ALPL, ATP7B, CEP290, COL17A1, CYP21A2, DPYD, GBA, GLB1, HTT, NHLRC1, SERPINA1, SLC26A2, SLC3A1, SMPD1, TMPPE 16 1 Global Variome, with Curator vacancy
00000024 - PubMed: Bell 2011 - - - - - - 0 - - BMD/DMD - AGA, AMPD1, ATP7B, CBS, CPT1A, CYP21A2, DPYD, ETFB, MEFV, NPHP4, NPHS1, SERPINA1 AGA, AMPD1, ATP7B, CPT1A, CYP21A2, DPYD, ETFB, MEFV, NPHP4, NPHS1, SERPINA1, TRIO 15 1 Global Variome, with Curator vacancy
00000025 - PubMed: Bell 2011 - - - - - - 0 - - BMD/DMD - AMPD1, ATP7B, ATR, CBS, CFTR, CYP21A2, ETFB, GLB1, HBB, IGHMBP2, NPHS1, PAH, SERPINA1, SLC26A2 ATP7B, ATR, BBS2, CFTR, CYP21A2, ETFB, GLB1, HBB, IGHMBP2, NPHS1, PAH, SERPINA1, SLC26A2, TMPPE 14 1 Global Variome, with Curator vacancy
00000026 - PubMed: Bell 2011 - - - - - - 0 - - - - AMPD1, ATP7B, CBS, CPT1A, ETFB, GLB1, GRHPR, HEXB, INVS, MECP2, MEFV, NHLRC1, NPHS1, NTRK1, SERPINA1, SLC26A2 ATP7B, CPT1A, ETFB, GLB1, GRHPR, HEXB, INVS, MECP2, MEFV, NHLRC1, NPHS1, NTRK1, SERPINA1, SLC26A2, TMPPE 16 1 Global Variome, with Curator vacancy
00000027 - PubMed: Bell 2011 - - - - - - 0 - - - - AMPD1, ARSB, ATP7B, CBS, CFTR, DPYD, ETFB, HEXB, MYO5A, NHLRC1, NPC1, NPHS1, SLC26A2 AMPD1, ARSB, ATP7B, CFTR, DPYD, ETFB, HEXB, MYO5A, NHLRC1, NPC1, NPHS1, PRKAR1A, SLC26A2 13 1 Global Variome, with Curator vacancy
00000028 - PubMed: Bell 2011 - - - - - - 0 - - - - ALG1, AMPD1, ATP7B, BTD, CBS, CLN3, CYP21A2, FGG, GALC, GLB1, JAK3, NPHS1, RAG2, RPGRIP1L, SERPINA1, SLC26A2 ALG1, AMPD1, ATP7B, BTD, CLN3, CYP21A2, FGG, GALC, GLB1, JAK3, NPHS1, PRKAR1A, RAG2, RPGRIP1L, SERPINA1, SLC26A2, TMPPE 17 1 Global Variome, with Curator vacancy
00000029 - PubMed: Almomani 2011 - - - - - - 0 - - - - ALG9, ASPM, B3GLCT, BBS1, CBS, CC2D1A, CDK5RAP2, DLG3, DNMT3B, DPM1, DPP3, GLI3, JAG1, KRAS, MECP2, MPDU1, NLGN4X, NSD1, PHF8, PMM2, RAI1, REST, SATB2, SCN8A, SHANK3, SLC35C1, TCF4, TSC1, UPF3B, ZEB2, ZNF41 ALG9, ASPM, B3GLCT, BBS1, CC2D1A, CDK5RAP2, DLG3, DLG3-AS1, DNMT3B, DPM1, DPP3, GLI3, HTT, JAG1, KRAS, MECP2, MPDU1, NLGN4X, NSD1, PCCA, PHF8, PMM2, PRKAR1A, RAI1, REST, RHO, SATB2, SCN8A, SHANK3, SLC35C1, TCF4, TSC1, UPF3B, ZEB2, ZNF41 45 1 Global Variome, with Curator vacancy
00000030 - PubMed: Bell 2011 - - - - - - 0 - - Healthy/Control - ADA, ATP7B, CPT2, GALC, HEXB, IGHMBP2, JAG1, NHLRC1, SBDS, SERPINA1, SLC26A2, SMPD1, TTPA, WNT10A ADA, ATP7B, GALC, HEXB, IGHMBP2, JAG1, NHLRC1, PCCA, SBDS, SERPINA1, SLC26A2, SMPD1, TTPA, WNT10A 15 1 Global Variome, with Curator vacancy
00000031 - PubMed: Bell 2011 - - - - - - 0 - - - - ADA, ATP7B, CYP21A2, DPYD, ETFB, FKTN, GAA, GLB1, IGHMBP2, NHLRC1, NPHS1, SERPINA1, TMEM67, WNT10A ADA, ATP7B, CYP21A2, DPYD, ETFB, FKTN, GAA, GLB1, IGHMBP2, NHLRC1, NPHS1, PRKAR1A, SERPINA1, TMEM67, TMPPE, WNT10A 17 1 Global Variome, with Curator vacancy
00000033 - PubMed: Bell 2011 - - - - - - 0 - - - - ATP7B, CDH23, CYP21A2, DPYD, ETFB, GAA, HADHA, HESX1, NHLRC1, PHEX, RAD51C, SERPINA1, USH2A ATP7B, BRCA2, CDH23, CYP21A2, DPYD, ETFB, GAA, HADHA, HESX1, NHLRC1, PRKAR1A, RAD51C, SERPINA1, USH2A 14 1 Global Variome, with Curator vacancy
00000034 - PubMed: Bell 2011 - - - - - - 0 - - - - ATP7B, CBS, CYP21A2, DPYD, ETFB, GLB1, GNPTAB, IGHMBP2, NHLRC1, RAD51C, SERPINA1, SLC26A2, SMPD1 ATP7B, CBS, CYP21A2, DPYD, ETFB, GLB1, GNPTAB, IGHMBP2, NHLRC1, PLP1, PRKAR1A, RAD51C, SERPINA1, SLC26A2, SMPD1, TMPPE 17 1 Global Variome, with Curator vacancy
00000035 - PubMed: Bell 2011 - - - - - - 0 - - - - ADA, ATP7B, BLM, CFTR, DPYD, ETFB, GLB1, HBB, IGHMBP2, MYO5A, PKHD1, RAD51C, SERPINA1, SMPD1 ADA, ATP7B, BLM, CFTR, DPYD, ETFB, GLB1, HBB, IGHMBP2, MYO5A, PKHD1, PRKAR1A, RAD51C, SERPINA1, SMPD1, TMPPE 18 1 Global Variome, with Curator vacancy
00000036 - PubMed: Bell 2011 - - - - - - 0 - - - - AHI1, ATP7B, CYP21A2, DPYD, ETFB, GLB1, HEXB, LAMA2, RAD51C, SMPD1 AHI1, ATP7B, CYP21A2, DPYD, ETFB, GLB1, HEXB, LAMA2, PRKAR1A, RAD51C, SMPD1, TMPPE 10 1 Global Variome, with Curator vacancy
00000037 - PubMed: Bell 2011 - - - - - - 0 - - - - ATM, ATP7B, DPYD, ETFB, HEXB, NHLRC1, NPHS1, SBDS, SLC26A2, SLC3A1, SMN1, SMPD1 ATM, ATP7B, DPYD, ETFB, HEXB, NHLRC1, NPHS1, PRKAR1A, SBDS, SLC26A2, SLC3A1, SMN1, SMPD1 13 1 Global Variome, with Curator vacancy
00000038 - PubMed: Bell 2011 - - - - - - 0 - - epilepsy - ALS2, ATP7B, CFTR, DPYD, GLB1, HEXB, MTHFR, MYO5A, NHLRC1, SMPD1 ALS2, ATP7B, CFTR, DPYD, GLB1, HEXB, MYO5A, NHLRC1, PRKAR1A, SMPD1, TMPPE 9 1 Global Variome, with Curator vacancy
00000039 - PubMed: Bell 2011 - - - - - - 0 - - ADPKD - AHI1, ATP7B, DPYD, ETFB, GAA, GLB1, LAMA2, MTHFR, NPHP4, NPHS1, P3H1, SBDS, SLC26A2 AHI1, ATP7B, DPYD, ETFB, GAA, GLB1, LAMA2, MTHFR, NPHP4, NPHS1, P3H1, PRKAR1A, SBDS, SLC26A2, TMPPE 14 1 Global Variome, with Curator vacancy
00000040 - PubMed: Bell 2011 - - - - - - 0 - - - - ATP7A, DPYD, GLB1, LAMA2 ATP7A, DPYD, GLB1, LAMA2, PRKAR1A, SAMHD1, TMPPE 4 1 Global Variome, with Curator vacancy
00000041 - PubMed: Bell 2011 - - - - - - 0 - - - - ATP7A, ATP7B, DPYD, ETFB, IGHMBP2, MPL, MYO5A, NHLRC1, NPHP4, NPHS1, PLP1, SERPINA1 ATP7A, ATP7B, DPYD, ETFB, HTT, IGHMBP2, MPL, MYO5A, NHLRC1, NPHP4, NPHS1, SERPINA1 13 1 Global Variome, with Curator vacancy
00000042 - PubMed: Bell 2011 - - - - - - 0 - - - - ATP7B, DPYD, ETFB, GLB1, IGHMBP2, JAK3, NPHP4, NPHS1, POLG, QARS, SERPINA1, SLC26A2, SMPD1 ATP7B, DPYD, ETFB, GLB1, IGHMBP2, JAK3, NPHP4, NPHS1, POLG, SERPINA1, SLC26A2, SMPD1, TMPPE 13 1 Global Variome, with Curator vacancy
00000043 - PubMed: Bell 2011 - - - - - - 0 - - - - ATP7B, DPYD, IGHMBP2, MYO5A, NHLRC1, NPHS1, PCK1, SERPINA1, SLC26A2 ATP7B, DPYD, IGHMBP2, MYO5A, NHLRC1, NPHS1, SERPINA1, SLC26A2 11 1 Global Variome, with Curator vacancy
00000044 - PubMed: Bell 2011 - - - - - - 0 - - - - ASS1, ATP7B, DPYD, ETFB, GCDH, GLB1, HADHA, HGSNAT, IGHMBP2, KCNQ2, MKS1, MYO5A ASS1, ATP7B, DPYD, ETFB, GCDH, GLB1, HADHA, HGSNAT, IGHMBP2, MKS1, MYO5A, TMPPE 12 1 Global Variome, with Curator vacancy
00000045 - PubMed: Bell 2011 - - - - - - 0 - - - - ATP2B3, ATP7B, DPYD, IGHMBP2, MYO5A, SERPINA1, SMPD1 ATP7B, DPYD, IGHMBP2, MYO5A, SERPINA1, SMPD1 7 1 Global Variome, with Curator vacancy
00000046 - PubMed: Bell 2011 - - - - - - 0 - - - - AGXT, ATP7B, CFTR, CYP27A1, DPYD, EHMT1, GLB1, IGHMBP2, NPHS1, POLG, SERPINA1, SMPD1 AGXT, ATP7B, CFTR, CYP27A1, DPYD, GLB1, IGHMBP2, NPHS1, POLG, SERPINA1, SMPD1, TMPPE 14 1 Global Variome, with Curator vacancy
00000047 - PubMed: Bell 2011 - - - - - - 0 - - - - ATP7B, BCKDHA, DPYD, ETFB, HEXB, IGHMBP2, KMT2A, MEFV, MPL, MYO5A, NHLRC1, NPC1, NPHS1, SERPINA1 ATP7B, BCKDHA, DPYD, ETFB, HEXB, IGHMBP2, MEFV, MPL, MYO5A, NHLRC1, NPC1, NPHS1, SERPINA1 16 1 Global Variome, with Curator vacancy
00000048 - PubMed: Bell 2011 - - - - - - 0 - - - - ATP7B, CPT1A, DPYD, ETFB, GAA, GBA, GLB1, IGHMBP2, LAMA2, MEFV, NHLRC1, NPHS1, SERPINA1 ATP7B, CPT1A, DPYD, ETFB, GAA, GBA, GLB1, IGHMBP2, LAMA2, MEFV, NHLRC1, NPHS1, SERPINA1, TMPPE 14 1 Global Variome, with Curator vacancy
00000049 - PubMed: Bell 2011 - - - - - - 0 - - - - ATP7B, CYP21A2, DPYD, ETFB, GALC, GLB1, IGHMBP2, LAMA2, MPL, MYO5A, NPHP4, SERPINA1, SGSH, SLC26A2 ATP7B, CYP21A2, DPYD, ETFB, GALC, GLB1, IGHMBP2, LAMA2, MPL, MYO5A, NPHP4, SERPINA1, SGSH, SLC26A2, TMPPE 16 1 Global Variome, with Curator vacancy
00000050 - PubMed: Bell 2011 - - - - - - 0 - - - - ADA, ATP7B, CYP21A2, DPYD, ETFB, GLB1, IGHMBP2 ADA, ATP7B, CYP21A2, DPYD, ETFB, GLB1, IGHMBP2, TMPPE 9 1 Global Variome, with Curator vacancy
00000051 - PubMed: Bell 2011 - - - - - - 0 - - - - AGXT, AHI1, ATP7B, DPYD, ETFB, FAH, GALC, GLB1, IGHMBP2, MYO5A, NHLRC1, NPHS1, PKHD1 AGXT, AHI1, ATP7B, DPYD, ETFB, FAH, GALC, GLB1, IGHMBP2, MYO5A, NHLRC1, NPHS1, PKHD1, TMPPE 14 1 Global Variome, with Curator vacancy
00000052 - PubMed: Bell 2011 - - - - - - - - - - - ARSB, DPYD, ERCC4, ETFB, NPHS1 ARSB, DPYD, ERCC4, ETFB, NPHS1 5 1 Global Variome, with Curator vacancy
00000053 - PubMed: Bell 2011 JPT/HAN‐HapMap sample F - - - - 0 - - - - AHI1, ATP7B, DMD, DPYD, ETFB, GALC, GLB1, MTHFR, MYO5A, NHLRC1, SERPINA1 AHI1, ATP7B, DMD, DPYD, ETFB, GALC, GLB1, MTHFR, MYO5A, NHLRC1, SERPINA1, TMPPE 11 1 Global Variome, with Curator vacancy
00000054 - PubMed: Bell 2011 - - - - - - - - - ABL see paper; … ATM, ATP7B, DPYD, ETFB, GALC, GLB1, GNPTAB, LAMA2, LAMA3, MTTP, NHLRC1, NPHS1, SERPINA1, SLC26A2 ATM, ATP7B, DPYD, ETFB, GALC, GLB1, GNPTAB, HTT, LAMA2, LAMA3, MTTP, NHLRC1, NPHS1, SERPINA1, SLC26A2, TMPPE 14 1 Global Variome, with Curator vacancy
00000055 - PubMed: Bell 2011 - - - - - - - - - - - ACADVL, AGXT, ATP7B, DPYD, ETFB, GLB1, HBB, MYO5A, NHLRC1, NPHS1, SERPINA1 ACADVL, AGXT, ATP7B, DPYD, ETFB, GLB1, HBB, MYO5A, NHLRC1, NPHS1, SERPINA1, TMPPE 12 1 Global Variome, with Curator vacancy
00000056 - PubMed: Bell 2011 - - - - - - - - - - - ACADL, ADA, ASPA, ATP7B, BTD, CYP27A1, DPYD, ETFB, GLB1, HEXB, IGHMBP2, NPHS1, SERPINA1, SLC26A2 ACADL, ADA, ASPA, ATP7B, BTD, CYP27A1, DPYD, ETFB, GLB1, HEXB, IGHMBP2, NPHS1, SERPINA1, SLC26A2, TMPPE, VPS33B 16 1 Global Variome, with Curator vacancy
00000057 - PubMed: Bell 2011 - - - - - - - - - - - ALDOB, ATM, ATP7B, DPYD, ERCC6, ETFB, GAA, IGHMBP2, LAMA2, NHLRC1, NPHS1, SERPINA1 ALDOB, ATM, ATP7B, DPYD, ERCC6, ETFB, GAA, HTT, IGHMBP2, LAMA2, NHLRC1, NPHS1, RPGR, SERPINA1, VPS33B 16 1 Global Variome, with Curator vacancy
00000058 - PubMed: Bell 2011 - - - - - - - - - - - ALDH5A1, ATP7B, CFTR, CYP21A2, GBA, HEXB, IGHMBP2, MEFV, MYO5A, NHLRC1, NPHS1, PKHD1, PMM2, SERPINA1, SLC26A2, SMPD1 ALDH5A1, ATP7B, CFTR, CYP21A2, GBA, HEXB, HTT, IGHMBP2, MEFV, MYO5A, NHLRC1, NPHS1, PKHD1, PMM2, SERPINA1, SLC26A2, SMPD1 18 1 Global Variome, with Curator vacancy
00000059 - PubMed: Bell 2011 - - - - - - - - - - - ATP7B, GBA, GLB1, IKBKAP, MEFV, NPHS1, SERPINA1 ATP7B, GBA, GLB1, IKBKAP, MEFV, NPHS1, SERPINA1, TMPPE 8 1 Global Variome, with Curator vacancy
00000060 - PubMed: Bell 2011 - - - - - - - - - - - ATP7B, CFTR, ENPP1, GBA, GLB1, NHLRC1, NPC2, NPHS1, SMPD1 ATP7B, CFTR, ENPP1, GBA, GLB1, NHLRC1, NPC2, NPHS1, SMPD1, TMPPE 9 1 Global Variome, with Curator vacancy
00000061 - PubMed: Bell 2011 - - - - - - - - - - - ADA, ATP7B, BTD, ETFB, GLB1, HEXB, HSPG2, MTHFR, POMGNT1, SERPINA1, SMPD1 ADA, ATP7B, BTD, ETFB, GLB1, HEXB, HSPG2, MTHFR, POMGNT1, SERPINA1, SMPD1, TMPPE 11 1 Global Variome, with Curator vacancy
00000062 - PubMed: Bell 2011 - - - - - - - - - - - AGXT, ATP7B, CLN3, CYP21A2, ETFB, GALC, GALT, GLB1, HSPG2, IGHMBP2, MEFV, NEB, NPHS1, SERPINA1, SLC26A2, TGM1 AGXT, ATP7B, CLN3, CYP21A2, ETFB, GALC, GALT, GLB1, HSPG2, IGHMBP2, MEFV, NEB, NPHS1, SERPINA1, SLC26A2, TMPPE 16 1 Global Variome, with Curator vacancy
00000063 - PubMed: Bell 2011 - - - - - - - - - - - ADA, ATP7B, COL7A1, ETFB, GLB1, LYST, MEFV, NHLRC1, NPHS1, NTRK1, SERPINA1 ADA, ATP7B, COL7A1, ETFB, GLB1, HTT, LYST, MEFV, NHLRC1, NPHS1, NTRK1, SERPINA1, TMPPE 13 1 Global Variome, with Curator vacancy
00000064 - PubMed: Bell 2011 - - - - - - - - - - - ATP7B, CYP21A2, ETFB, FKTN, GLB1, HEXB, IGHMBP2, LYST, NHLRC1, PMM2, SBDS, SMPD1 ATP7B, CYP21A2, ETFB, FKTN, GLB1, HEXB, IGHMBP2, LYST, NHLRC1, PMM2, SBDS, SMPD1, TMPPE 12 1 Global Variome, with Curator vacancy
00000065 - PubMed: Bell 2011 - - - - - - - - - - - ATP7B, CFTR, ETFB, GLB1, MPL, NHLRC1, NPHS1, SERPINA1, SMPD1 ATP7B, CFTR, ETFB, GLB1, MPL, NHLRC1, NPHS1, SERPINA1, SMPD1, TMPPE 9 1 Global Variome, with Curator vacancy
00000066 - PubMed: Bell 2011 - - - - - - 0 - - - - AHI1, ATP7B, HBB, HEXB, IDUA, MPL, NHLRC1, NPHS1, PKHD1, PMM2, SERPINA1, TTN AHI1, ATP7B, HBB, HEXB, IDUA, MPL, NHLRC1, NPHS1, PKHD1, PMM2, SERPINA1, TTN 14 1 Global Variome, with Curator vacancy
00000067 - PubMed: Bell 2011 - - - - - - - - - - - ASPA, ATP7B, CDH23, CPT1A, CYP21A2, ETFB, GALC, GLB1, MEFV, MTHFR, MVK, NHLRC1, NPHS1, SERPINA1, SLC26A2, SMPD1, WNT10A ASPA, ATP7B, CDH23, CHRNA3, CPT1A, CYP21A2, ETFB, GALC, GLB1, MEFV, MTHFR, MVK, NHLRC1, NPHS1, SERPINA1, SLC26A2, SMPD1, TMPPE, WNT10A 18 1 Global Variome, with Curator vacancy
00000068 - PubMed: Bell 2011 - - - - - - - - - - - ADA, ATP7B, BMPR2, CDH23, CYP21A2, ENPP1, ETFB, FKTN, HBB, HGSNAT, IGHMBP2, IVD, MTHFR, MYO5A, NPHS1, SERPINA1 ADA, ATP7B, BMPR2, CDH23, CYP21A2, ENPP1, ETFB, FKTN, HBB, HGSNAT, HTT, IGHMBP2, IVD, MTHFR, MYO5A, NPHS1, SERPINA1 18 1 Global Variome, with Curator vacancy
00000069 - PubMed: Bell 2011 - - - - - - - - - - - AHI1, ARSB, ATP7B, CYP27A1, ETFB, GLB1, HEXA, HEXB, LAMA2, MTHFR, MYO5A, NHLRC1, NPHS1, PMM2, SBDS AHI1, ARSB, ATP7B, CYP27A1, ETFB, FAM20C, GLB1, HEXA, HEXB, LAMA2, MTHFR, MYO5A, NHLRC1, NPHS1, PMM2, SBDS, TMPPE 17 1 Global Variome, with Curator vacancy
00000070 - PubMed: Bell 2011 - - - - - - - - - - - ACADSB, ATP7B, CFTR, ETFB, HBA1, IGHMBP2, MTHFR, MYO5A, SERPINA1, SLC26A2 ACADSB, ATP7B, BBS1, CFTR, ETFB, FAM20C, HBA1, HBA2, HBM, HBQ1, HBZ, IGHMBP2, MTHFR, MYO5A, SERPINA1, SLC26A2 10 1 Global Variome, with Curator vacancy
00000071 - PubMed: Bell 2011 - - - - - - - - - - - ATP7B, ETFB, LAMA2, MTHFR, NHLRC1, NPC1, OFD1, PAH, SERPINA1, SMPD1 ATP7B, ETFB, LAMA2, MTHFR, NHLRC1, NPC1, OFD1, PAH, SERPINA1, SMPD1 12 1 Global Variome, with Curator vacancy
00000072 - PubMed: Bell 2011 - - - - - - - - - - - ARSB, ATP7B, CYP21A2, ETFB, GLB1, IGHMBP2, MTHFR, NHLRC1, NPHS1, PMM2, PPT1, SERPINA1, SMPD1 ARSB, ATP7B, CYP21A2, ETFB, GLB1, IGHMBP2, MTHFR, NHLRC1, NPHS1, PMM2, PPT1, SERPINA1, SMPD1, TMPPE 17 1 Global Variome, with Curator vacancy
00000073 - PubMed: Bell 2011 - - - - - - - - - - - ATP7B, ETFB, GALT, GLB1, IGHMBP2, MTHFR, NHLRC1, SMPD1 ATP7B, ETFB, GALT, GLB1, IGHMBP2, MTHFR, NHLRC1, SMPD1, TMPPE 9 1 Global Variome, with Curator vacancy
00000074 - PubMed: Bell 2011 - - - - - - - - - - - AGXT, ATP7B, CFTR, ERCC5, GLB1, MTHFR, NHLRC1, NPHS1, SERPINA1 AGXT, ATP7B, BIVM-ERCC5, CFTR, ERCC5, GLB1, MTHFR, NHLRC1, NPHS1, SERPINA1, TMPPE 9 1 Global Variome, with Curator vacancy
00000075 - PubMed: Bell 2011 - - - - - - - - - - - ATP7B, CDH23, ETFB, GAA, HESX1, IGHMBP2, LAMA2, MEFV, NPHP4, SERPINA1 ATP7B, CDH23, ETFB, GAA, HESX1, IGHMBP2, LAMA2, MEFV, NPHP4, SERPINA1 13 1 Global Variome, with Curator vacancy
00000076 - PubMed: Bell 2011 - - - - - - - - - - - ATP7B, BCKDHA, FKRP, GAA, GLB1, HSD17B4, IGHMBP2, MEFV, NHLRC1, NPHS1, PMM2, POMGNT1, PPT1, SERPINA1, SLC26A2 ATP7B, BCKDHA, FKRP, GAA, GLB1, HSD17B4, IGHMBP2, MEFV, NHLRC1, NPHS1, PMM2, POMGNT1, PPT1, SERPINA1, SLC26A2, TMPPE 17 1 Global Variome, with Curator vacancy
00000077 - PubMed: Bell 2011 - - - - - - - - - - - AGXT, ATP7B, ETFB, GLB1, MYO5A, NPHS1, SERPINA1, SLC26A2, USH2A AGXT, ATP7B, ETFB, GLB1, HTT, MYO5A, NPHS1, SERPINA1, SLC26A2, TMPPE, USH2A 10 1 Global Variome, with Curator vacancy
00000078 - PubMed: Bell 2011 - - - - - - - - - - - ATP7B, CDH23, CFTR, ETFB, GLB1, IGHMBP2, NPHS1, PMM2, POLG, RAG1, SERPINA1, SLC26A2 ATP7B, CDH23, CFTR, ETFB, GLB1, IGHMBP2, NPHS1, PMM2, POLG, RAG1, SERPINA1, SLC26A2, TMPPE 12 1 Global Variome, with Curator vacancy
00000079 - PubMed: Bell 2011 - - - - - - - - - - - CDH23, GPR98, NHLRC1, NPHS1, SERPINA1 CDH23, GPR98, NHLRC1, NPHS1, SERPINA1 5 1 Global Variome, with Curator vacancy
00000080 - PubMed: Bell 2011 - - - - - - - - - - - ATP7B, CDH23, HBA1, NPHS1, SERPINA1, SMPD1 ATP7B, CDH23, HBA1, HBA2, HBM, HBQ1, HBZ, NPHS1, SERPINA1, SMPD1 7 1 Global Variome, with Curator vacancy
00000081 - PubMed: Bell 2011 - - - - - - - - - - - ADAMTS13, ATP7B, CDH23, ETFB, FKTN, GLB1, HEXB, NPHS1, SERPINA1, SMPD1 ADAMTS13, ATP7B, C10orf105, CDH23, ETFB, FKTN, GLB1, HEXB, NPHS1, SERPINA1, SMPD1, TMPPE 11 1 Global Variome, with Curator vacancy
00000082 - PubMed: Bell 2011 - - - - - - - - - - - ATP7B, CPT1A, CYP21A2, ETFB, FAH, GLB1, MCOLN1, MYO5A, NHLRC1, NPC2 ATP7B, CPT1A, CYP21A2, ETFB, FAH, GLB1, HTT, MCOLN1, MYO5A, NHLRC1, NPC2, TMPPE 11 1 Global Variome, with Curator vacancy
00000083 - PubMed: Bell 2011 - - - - - - - - - - - ASPA, ATP7B, CPT1A, CYP27A1, ETFB, GAA, NPHS1, SERPINA1 ASPA, ATP7B, CPT1A, CYP27A1, ETFB, GAA, NPHS1, SERPINA1 9 1 Global Variome, with Curator vacancy
00000084 - PubMed: Bell 2011 - - - - - - - - - - - ADA, CPT1A, FKRP, GAA, GLB1, MYO5A, NHLRC1, NPHS1, RAG1, SERPINA1, SMPD1 ADA, CPT1A, FKRP, GAA, GLB1, MYO5A, NHLRC1, NPHS1, RAG1, SERPINA1, SMPD1, TMPPE 11 1 Global Variome, with Curator vacancy
00000085 - PubMed: Bell 2011 - - - - - - - - - - - ADA, ATP7B, ETFB, FGG, FKTN, HEXB, IGHMBP2, MYO5A, NHLRC1, PKHD1, POLG, SERPINA1, SGSH ADA, ATP7B, ETFB, FGG, FKTN, HEXB, HTT, IGHMBP2, MYO5A, NHLRC1, PKHD1, POLG, SERPINA1, SGSH 14 1 Global Variome, with Curator vacancy
00000086 - PubMed: Bell 2011 - - - - - - - - - - - ARSB, ATP7B, BTD, ETFB, GLB1, HEXB, HPRT1, IGHMBP2, NHLRC1, POLG, SERPINA1, SLC26A2 ARSB, ATP7B, BTD, ETFB, GLB1, HEXB, HPRT1, IFT27, IGHMBP2, NHLRC1, POLG, SERPINA1, SLC26A2, TMPPE 13 1 Global Variome, with Curator vacancy
00000087 - PubMed: Bell 2011 - - - - - - - - - - - AHI1, ATP7B, BTD, CYP21A2, ETFB, FRAS1, GLB1, IGHMBP2, NHLRC1, SERPINA1, SLC26A2 AHI1, ATP7B, BTD, CEP290, CYP21A2, ETFB, FRAS1, GLB1, IGHMBP2, NHLRC1, SERPINA1, SLC26A2, TMPPE 11 1 Global Variome, with Curator vacancy
00000088 - PubMed: Bell 2011 - - - - - - - - - - - ATP7B, CFTR, ETFB, FKRP, GALC, GLB1, HEXB, IGHMBP2, NHLRC1, NPHS1, POLG, SBDS, SERPINA1 ATP7B, CFTR, ETFB, FKRP, GALC, GLB1, HEXB, IGHMBP2, NHLRC1, NPHS1, POLG, SBDS, SERPINA1, TMPPE 14 1 Global Variome, with Curator vacancy
00000089 - PubMed: Bell 2011 - - - - - - - - - - - ATP7B, BTD, CFTR, ETFB, GALC, GLB1, IGHMBP2, SMPD1 ATP7B, BTD, CFTR, ETFB, GALC, GLB1, IGHMBP2, SMPD1, TMPPE 9 1 Global Variome, with Curator vacancy
00000090 - PubMed: Bell 2011 - - - - - - - - - - - CYP21A2, ERCC4, GLB1, HEXB, IGHMBP2, LAMA2, NHLRC1, NPHS1 CYP21A2, ERCC4, GLB1, HEXB, HTT, IGHMBP2, LAMA2, NHLRC1, NPHS1, TMPPE 8 1 Global Variome, with Curator vacancy
00000091 - PubMed: Bell 2011 - - - - - - - - - - - GALC, IGHMBP2, MYO5A, NHLRC1, SMPD1 GALC, IGHMBP2, MYO5A, NHLRC1, SMPD1 5 1 Global Variome, with Curator vacancy
00000092 - PubMed: Bell 2011 - - - - - - - - - - - ATP8B1, ETFB, GLB1, IGHMBP2, LAMA2, MYO5A, NPHS1, SMPD1 ATP8B1, ETFB, GLB1, IGHMBP2, LAMA2, MYO5A, NPHS1, SMPD1, TMPPE 8 1 Global Variome, with Curator vacancy
00000093 - PubMed: Bell 2011 - - - - - - - - - - - ATP7A, ATP7B, GLB1, HBA1, SERPINA1, SMPD1 ATP7A, ATP7B, GLB1, HBA1, HBA2, HBM, HBQ1, HBZ, SERPINA1, SMPD1, TMPPE 7 1 Global Variome, with Curator vacancy
00000094 - PubMed: Bell 2011 - - - - - - - - - ? - AHI1, ARSB, ATP7B, BTD, ENPP1, ETFB, GCDH, GLB1, INVS, MYO5A, NPHS1, SERPINA1, SMPD1 AHI1, ARSB, ATP7B, BTD, ENPP1, ETFB, GCDH, GLB1, INVS, MYO5A, NPHS1, SERPINA1, SMPD1, TMPPE 14 1 Global Variome, with Curator vacancy
00000095 - PubMed: Bell 2011 - - - - - - - - - - - ATP7B, CFTR, GLB1, HEXB, NHLRC1, NPHS1, SMPD1 ATP7B, CFTR, GLB1, HEXB, NHLRC1, NPHS1, SMPD1, TMPPE 7 1 Global Variome, with Curator vacancy
00000096 - PubMed: Bell 2011 - - - - - - - - - - - AHI1, ATP7B, BTD, COQ2, ETFB, GLB1, HEXB, NHLRC1, SERPINA1, USH1C AHI1, ATP7B, BTD, COQ2, ETFB, GLB1, HEXB, NHLRC1, SERPINA1, TMPPE, USH1C 11 1 Global Variome, with Curator vacancy
00000097 - PubMed: Bell 2011 - - - - - - - - - - - ETFB, FKTN, GLB1, PAH, SERPINA1 ETFB, FKTN, GLB1, PAH, SERPINA1, TMPPE 6 1 Global Variome, with Curator vacancy
00000098 - PubMed: Bell 2011 - - - - - - - - - - - ATP7B, GLB1, NHLRC1, SERPINA1 ATP7B, GLB1, NHLRC1, SERPINA1, TMPPE 5 1 Global Variome, with Curator vacancy
00000099 - PubMed: Bell 2011 - - - - - - - - - - - ARSB, ATP7B, ETFB, HESX1, HGSNAT, LAMA2, NHLRC1, SERPINA1, SLC26A2, TMEM216 ARSB, ATP7B, ETFB, HESX1, HGSNAT, LAMA2, NHLRC1, SERPINA1, SLC26A2, TMEM216 10 1 Global Variome, with Curator vacancy
00000100 - PubMed: Bell 2011 - - - - - - - - - - - ADAMTS13, ATP7B, CFTR, ETFB, HADHA, HESX1, HGSNAT, LAMA2, NHLRC1, NPHS1, PKHD1, SERPINA1 ADAMTS13, ATP7B, CFTR, ETFB, HADHA, HESX1, HGSNAT, LAMA2, NHLRC1, NPHS1, PKHD1, SERPINA1 12 1 Global Variome, with Curator vacancy
00000101 - PubMed: Bell 2011 - - - - - - - - - - - ATP7B, ETFB, GLB1, NPHS1, SERPINA1 ATP7B, ETFB, GLB1, NPHS1, SERPINA1, TMPPE 6 1 Global Variome, with Curator vacancy
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