All individuals

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Individual ID
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Disease
Phenotype details
Genes screened
Variants in genes
Variants
Panel size
Owner
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 NA04364 PubMed: Bell 2011 - M - - - - - - - ? - ACADM, ADA, ATP7B, ATR, CFTR, DMD, DPYD, GLB1, IGHMBP2, NHLRC1, SERPINA1, SMPD1, TNNT1 ADA, ATP7B, ATR, DMD, DPYD, GLB1, IGHMBP2, NHLRC1, PRKAR1A, SERPINA1, SMPD1, TMPPE 11 1 Global Variome, with Curator vacancy
00000012 - PubMed: Bell 2011 - - - - - - - - - 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 - - - - - - - - - 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 - - - - - - - - - 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, HUWE1, IGHMBP2, MYO5A, NHLRC1, NPHP4, NPHS1, PKHD1, PRKAR1A, SERPINA1, SFTPB, SGSH, SLC37A4, SNRNP200, TMPPE, TSFM 22 1 Global Variome, with Curator vacancy
00000015 - PubMed: Bell 2011 - - - - - - - - - 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 - - - - - - - - - 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 - - - - - - - - - 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 - - - - - - - - - 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 - - - - - - - - - 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 - - - - - - - - - - - ALPL, ATP7B, ETFB, GLB1, IGHMBP2, MKS1, MYO5A, NHLRC1, NPHS1, SERPINA1, SLC26A2, SMPD1 ALPL, ATP7B, ETFB, GLB1, IGHMBP2, MKS1, MYO5A, NHLRC1, NPHS1, SERPINA1, SLC26A2, SMPD1, TMPPE 14 1 Global Variome, with Curator vacancy
00000021 - PubMed: Bell 2011 - - - - - - - - - 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 - - - - - - - - - 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 - - - - - - - - - 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 - - - - - - - - - BMD/DMD - AGA, AMPD1, ATP7B, CBS, CPT1A, CYP21A2, DPYD, ETFB, MEFV, NPHP4, NPHS1, SERPINA1 AGA, AMPD1, ATP7B, CPT1A, CYP21A2, DPYD, ETFB, HUWE1, MEFV, NPHP4, NPHS1, SERPINA1, TRIO 15 1 Global Variome, with Curator vacancy
00000025 - PubMed: Bell 2011 - - - - - - - - - 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 - - - - - - - - - - - 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 - - - - - - - - - - - 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 - - - - - - - - - - - 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 - - - - - - - - - - - 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, RAI1, REST, RHO, SATB2, SCN8A, SHANK3, SLC35C1, TCF4, TSC1, UPF3B, ZEB2, ZNF41 45 1 Global Variome, with Curator vacancy
00000030 - PubMed: Bell 2011 - - - - - - - - - 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 - - - - - - - - - - - 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 - - - - - - - - - - - ATP7B, CDH23, CYP21A2, DPYD, ETFB, GAA, HADHA, HESX1, NHLRC1, PHEX, SERPINA1, USH2A ATP7B, BRCA2, CDH23, CYP21A2, DPYD, ETFB, GAA, HADHA, HESX1, NHLRC1, PRKAR1A, SERPINA1, USH2A 13 1 Global Variome, with Curator vacancy
00000034 - PubMed: Bell 2011 - - - - - - - - - - - ATP7B, CBS, CYP21A2, DPYD, ETFB, GLB1, GNPTAB, IGHMBP2, NHLRC1, SERPINA1, SLC26A2, SMPD1 ATP7B, CBS, CYP21A2, DPYD, ETFB, GLB1, GNPTAB, IGHMBP2, NHLRC1, PLP1, PRKAR1A, SERPINA1, SLC26A2, SMPD1, TMPPE 16 1 Global Variome, with Curator vacancy
00000035 - PubMed: Bell 2011 - - - - - - - - - - - ADA, ATP7B, BLM, CFTR, DPYD, ETFB, GLB1, HBB, IGHMBP2, MYO5A, PKHD1, SERPINA1, SMPD1 ADA, ATP7B, BLM, CFTR, DPYD, ETFB, GLB1, HBB, IGHMBP2, MYO5A, PKHD1, PRKAR1A, SERPINA1, SMPD1, TMPPE 17 1 Global Variome, with Curator vacancy
00000036 - PubMed: Bell 2011 - - - - - - - - - - - AHI1, ATP7B, CYP21A2, DPYD, ETFB, GLB1, HEXB, LAMA2, SMPD1 AHI1, ATP7B, CYP21A2, DPYD, ETFB, GLB1, HEXB, LAMA2, PRKAR1A, SMPD1, TMPPE 9 1 Global Variome, with Curator vacancy
00000037 - PubMed: Bell 2011 - - - - - - - - - - - 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 - - - - - - - - - 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 - - - - - - - - - ADPKD - AHI1, ATP7B, DPYD, ETFB, GAA, GLB1, LAMA2, MTHFR, NPHP4, NPHS1, P3H1, SBDS, SLC26A2 AHI1, ATP7B, DPYD, ETFB, GAA, GLB1, HUWE1, LAMA2, MTHFR, NPHP4, NPHS1, P3H1, PRKAR1A, SBDS, SLC26A2, TMPPE 14 1 Global Variome, with Curator vacancy
00000040 - PubMed: Bell 2011 - - - - - - - - - - - ATP7A, DPYD, GLB1, LAMA2 ATP7A, DPYD, GLB1, LAMA2, PRKAR1A, SAMHD1, TMPPE 4 1 Global Variome, with Curator vacancy
00000041 - PubMed: Bell 2011 - - - - - - - - - - - ATP7A, ATP7B, DPYD, ETFB, IGHMBP2, MPL, MYO5A, NHLRC1, NPHP4, NPHS1, PLP1, SERPINA1 ATP7A, ATP7B, CYP4V2, DPYD, ETFB, HTT, HUWE1, IGHMBP2, IMPG1, MPL, MYO5A, NHLRC1, NPHP4, NPHS1, RHO, SERPINA1, TIMP3 13 1 Global Variome, with Curator vacancy
00000042 - PubMed: Bell 2011 - - - - - - - - - - - ATP7B, DPYD, ETFB, GLB1, IGHMBP2, JAK3, NPHP4, NPHS1, POLG, QARS, SERPINA1, SLC26A2, SMPD1 ATP7B, DPYD, ETFB, GLB1, HUWE1, IGHMBP2, JAK3, NPHP4, NPHS1, POLG, SERPINA1, SLC26A2, SMPD1, TMPPE 13 1 Global Variome, with Curator vacancy
00000043 - PubMed: Bell 2011 - - - - - - - - - - - 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 - - - - - - - - - - - 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 - - - - - - - - - - - ATP2B3, ATP7B, DPYD, IGHMBP2, MYO5A, SERPINA1, SMPD1 ATP7B, DPYD, IGHMBP2, MYO5A, SERPINA1, SMPD1 7 1 Global Variome, with Curator vacancy
00000046 - PubMed: Bell 2011 - - - - - - - - - - - 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 - - - - - - - - - - - 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 - - - - - - - - - - - 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 - - - - - - - - - - - ATP7B, CYP21A2, DPYD, ETFB, GALC, GLB1, IGHMBP2, LAMA2, MPL, MYO5A, NPHP4, SERPINA1, SGSH, SLC26A2 ATP7B, CYP21A2, DPYD, ETFB, GALC, GLB1, HUWE1, IGHMBP2, LAMA2, MPL, MYO5A, NPHP4, SERPINA1, SGSH, SLC26A2, TMPPE 16 1 Global Variome, with Curator vacancy
00000050 - PubMed: Bell 2011 - - - - - - - - - - - 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 - - - - - - - - - - - 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 - - - - - - - - - AHI1, ATP7B, DMD, DPYD, ETFB, GALC, GLB1, MTHFR, MYO5A, NHLRC1, SERPINA1 AHI1, ATP7B, DMD, DMP1, 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 - - - - - - - - - - - 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, SLC39A5 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, HUWE1, 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, BBS9, BCKDHA, FKRP, GAA, GLB1, HSD17B4, IGHMBP2, MEFV, NHLRC1, NPHS1, PMM2, POMGNT1, PPT1, SERPINA1, SLC26A2, TMPPE 18 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 - - - - - - - - - retinal disease diffuse retinal, retinal pigment epithelium, and choroidal atrophy without evidence for choroidal neovascularization ATP7B, ETFB, GLB1, NPHS1, SERPINA1 ATP7B, CYP4V2, ETFB, GLB1, IMPG1, MPL, NPHS1, RHO, SERPINA1, TIMP3, TMPPE 7 1 Global Variome, with Curator vacancy
00000102 - PubMed: Almomani 2011 - - - - - - - - - - - B3GLCT, BEST1, MECP2, NF1, NSD1, RS1 B3GLCT, BEST1, CDH23, CDKL5, CLN3, MECP2, NF1, NSD1, RS1 18 1 Global Variome, with Curator vacancy
00000107 - PubMed: Bell 2011 - - - - - - - - - - - ADA, BTD, CLN3, CLRN1, CYP21A2, GLB1, MEFV, MYO5A, NHLRC1, NPHS1, SERPINA1, SLC26A2, WNT10A ADA, BTD, CLN3, CYP21A2, GLB1, MEFV, MYO5A, NHLRC1, NPHS1, SERPINA1, SLC26A2, SMO, TMPPE, WNT10A 15 1 Global Variome, with Curator vacancy
00000108 - PubMed: Bell 2011 - - - - - - - - - - developmental delay, intellectual disability, partial agenesis of corpus callosum, behavioral issues, attention deficit hyperactivity disorder, bilateral hearing loss, dysmorphic features, joint hypermobility, hypopigmented macules ATP7A ATP7A 1 1 Gerard C.P. Schaafsma
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