All individuals

152997 entries on 1530 pages. Showing entries 1 - 100.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00000001 - PubMed: Bell 2011 - - - - - - - - - ? - ACADM, ADA, ARSB, ATP7B, CYP21A2, DMD, ETFB, GALT, GLB1, IGHMBP2, LAMA2, NHLRC1, NPHP3, NPHS1, RAD51B, SLC26A2 ACADM, ADA, ARSB, ATP7B, CYP21A2, DMD, ETFB, GALT, GLB1, IGHMBP2, LAMA2, NHLRC1, NPHP3, NPHS1, SLC26A2, TBX22, TMPPE 21 1 LOVD-team, but with Curator vacancy
00000002 - PubMed: Bell 2011 - - - - - - - - - ? in vitro assay ACADM, ADA, ARSB, ATP7B, CPT1A, CYP21A2, GBA, GLB1, HEXA, NHLRC1, SERPINA1 ACADM, ADA, ARSB, ATP7B, CPT1A, CYP21A2, FLNC, GBA, GLB1, HEXA, HTT, NHLRC1, SERPINA1, SLC4A4, TMEM5, TMPPE 14 1 LOVD-team, but with Curator vacancy
00000003 - PubMed: Bell 2011 - - - - - - - - - - - ACADM, CDH23, DPYD, ETFB, GBA, GLB1, HADHA, HESX1, IGHMBP2, NHLRC1, NPHS1, PKHD1, SERPINA1, SLC26A2 ACADM, CDH23, DPYD, ETFB, FLNC, GBA, GLB1, HADHA, HESX1, HTT, IGHMBP2, NHLRC1, NPHS1, PKHD1, PRKAR1A, SERPINA1, SLC26A2, TMPPE 16 1 LOVD-team, but with Curator vacancy
00000004 - PubMed: Bell 2011 - - - - - - - - - - - ACADM, AGL, DPYD, ETFB, GAA, HESX1, NHLRC1, NPHS1, SBDS, SLC26A2, SMPD1, USP9X AGL, DPYD, ETFB, FLNC, GAA, HESX1, NHLRC1, NPHS1, PRKAR1A, SBDS, SLC26A2, SMPD1, USP9X 14 1 LOVD-team, but with Curator vacancy
00000005 - PubMed: Bell 2011 - - - - - - - - - - - ACADM, ATP7B, CFTR, ETFB, GLB1, MEFV, NHLRC1, PKHD1, RAPSN, SERPINA1, SLC26A2, USH2A ACADM, ACTC1, ATP7B, CFTR, ETFB, GLB1, MEFV, NHLRC1, PKHD1, RAPSN, SERPINA1, SLC26A2, TMPPE, USH2A 13 1 LOVD-team, but 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 LOVD-team, but with Curator vacancy
00000007 - PubMed: Bell 2011 - - - - - - - - - - - ACADM, ATP7B, CDH23, HESX1, HGSNAT, NPHS1, PAH, PKHD1, SERPINA1 ACADM, ATP7B, CDH23, CPS1, HESX1, HGSNAT, NPHS1, PAH, PKHD1, SERPINA1 24 1 LOVD-team, but with Curator vacancy
00000008 - PubMed: Bell 2011 - - - - - - - - - - - ACADM, ADA, ATP7B, CFTR, ETFB, FBN1, FKTN, HESX1, HGSNAT, MYO5A, NPHS1, SERPINA1, USH2A ACADM, ADA, ATP7B, CFTR, ETFB, FBN1, FKTN, HESX1, HGSNAT, MYO5A, NPHS1, SERPINA1, USH2A 14 1 LOVD-team, but with Curator vacancy
00000009 - PubMed: Bell 2011 - - - - - - - - - - - ACADM, ARSB, ATP7B, CFTR, CLN3, ETFB, FBN1, GAN, GLB1, HEXB, IGHMBP2, MEFV, NHLRC1, NPHS1, NTRK1, PMP22, SERPINA1, WNT10A ACADM, ARSB, ATP7B, CFTR, CLN3, ETFB, FBN1, GAN, GLB1, HEXB, IGHMBP2, MEFV, NHLRC1, NPHS1, NTRK1, PMP22, SERPINA1, TMPPE, WNT10A 21 1 LOVD-team, but 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 12 1 LOVD-team, but with Curator vacancy
00000011 - PubMed: Bell 2011 - M - - - - 0 - - autism, CF - ACADM, ADA, ATP7B, ATR, CFTR, DMD, DPYD, GLB1, IGHMBP2, NHLRC1, SERPINA1, SMPD1 ABCA4, ACTC1, ADA, ATP7B, ATR, CFTR, DMD, DPYD, GLB1, IGHMBP2, NHLRC1, PRKAR1A, PTEN, SERPINA1, SMPD1, TMPPE 15 1 LOVD-team, but with Curator vacancy
00000012 - PubMed: Bell 2011 - - - - - - 0 - - autism - ACADVL, ADA, AGL, ATP7B, CYP21A2, DPYD, ETFB, GBA, HGSNAT, IGHMBP2, LAMA2, MYO5A, NHLRC1, NPHS1, SERPINA1, SLC26A2 ABCA4, ACADVL, ADA, ATP7B, CYP21A2, CYP2B6, DPYD, ETFB, GBA, HGSNAT, IGHMBP2, LAMA2, MYO5A, NHLRC1, NPHS1, PRKAR1A, SAMHD1, SERPINA1, SLC26A2 20 1 LOVD-team, but with Curator vacancy
00000013 - PubMed: Bell 2011 - - - - - - 0 - - autism - AGL, ATP7B, COL7A1, HADHA, MEFV, NHLRC1, PAH, SMPD1 ABCA4, ACTC1, AGL, ATP7B, COL7A1, CYP2B6, HADHA, MEFV, NHLRC1, PAH, SMPD1 14 1 LOVD-team, but with Curator vacancy
00000014 - PubMed: Bell 2011 - - - - - - 0 - - autism - ALG6, ATP7B, CFTR, DPYD, ETFB, GLB1, GNPTAB, HEXB, IGHMBP2, MYO5A, NHLRC1, NPHP4, NPHS1, PKHD1, SERPINA1, SFTPB, SGSH, TSFM ABCA4, ALG6, ATP7B, CFTR, CYP2B6, DPYD, ETFB, GLB1, GNPTAB, HEXB, HTT, IGHMBP2, MYO5A, NHLRC1, NPHP4, NPHS1, PKHD1, PRKAR1A, SERPINA1, SFTPB, SGSH, TMPPE, TSFM 25 1 LOVD-team, but with Curator vacancy
00000015 - PubMed: Bell 2011 - - - - - - 0 - - autism - ALG6, ARSB, ATP7B, BMPR2, DPYD, ETFB, GALC, GLB1, NHLRC1, NPHS1, SERPINA1, TGM1 ABCA4, ACTC1, ALG6, ARSB, ATP7B, BMPR2, CYP2B6, DPYD, ETFB, GALC, GLB1, NHLRC1, NPHS1, PRKAR1A, SERPINA1, TMPPE 16 1 LOVD-team, but with Curator vacancy
00000016 - PubMed: Bell 2011 - - - - - - 0 - - autism - ADA, ALG6, ATP7B, CFTR, DPYD, ENPP1, GLB1, IGHMBP2, NPHS1, PKHD1 ABCA4, ADA, ALG6, ATP7B, CFTR, DPYD, ENPP1, GLB1, IGHMBP2, NPHS1, PKHD1, PRKAR1A, TMPPE 11 1 LOVD-team, but with Curator vacancy
00000017 - PubMed: Bell 2011 - - - - - - 0 - - autism - ALG6, ASPA, ATP7B, DPYD, GLB1, LAMA2, MMACHC, MPL, MYO5A, NHLRC1, NPHS1, SERPINA1, SMPD1 ABCA4, ALG6, ASPA, ATP7B, DPYD, GLB1, LAMA2, MMACHC, MPL, MYO5A, NHLRC1, NPHS1, PHOX2B, PRKAR1A, SERPINA1, SMPD1, TMPPE 16 1 LOVD-team, but with Curator vacancy
00000018 - PubMed: Bell 2011 - - - - - - 0 - - autism - ALG6, ASPA, ATP7B, DPYD, GLB1, LAMA2, MMACHC, MPL, MYO5A, NHLRC1, NPHS1, SERPINA1, SMPD1 ABCA4, ALG6, ASPA, ATP7B, DPYD, GLB1, LAMA2, MMACHC, MPL, MYO5A, NHLRC1, NPHS1, PHOX2B, PRKAR1A, SERPINA1, SMPD1, TMPPE 16 1 LOVD-team, but with Curator vacancy
00000019 - PubMed: Almomani 2011 - - - - - - 0 - - autism, 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 ABCA4, AFF2, ALG12, B3GLCT, B4GALT1, BBS12, CDK5RAP2, CENPJ, CRBN, DHCR7, EP300, IL1RAPL1, KDM5C, KRAS, MCPH1, MED12, NSD1, NUFIP1, POMT1, RAB3GAP2, RAF1, SATB2, SCN8A, SIL1, TSC1 45 1 LOVD-team, but with Curator vacancy
00000020 - PubMed: Bell 2011 - - - - - - 0 - - - - ALPL, ATP7B, ETFB, GLB1, IGHMBP2, MKS1, MYO5A, NHLRC1, NPHS1, SERPINA1, SLC26A2, SMPD1 ABCA4, ALPL, ATP7B, ETFB, GLB1, IGHMBP2, MKS1, MYO5A, NHLRC1, NPHS1, PRKAR1A, SERPINA1, SLC26A2, SMPD1, TMPPE 15 1 LOVD-team, but with Curator vacancy
00000021 - PubMed: Bell 2011 - - - - - - 0 - - - - ALPL, BTD, CBS, DKC1, ETFB, GLB1, SBDS, SERPINA1 ABCA4, ALPL, BTD, DKC1, ETFB, GLB1, PRKAR1A, SBDS, SERPINA1, TMPPE 8 1 LOVD-team, but with Curator vacancy
00000022 - PubMed: Bell 2011 - - - - - - 0 - - - - ALPL, ATP7B, CBS, DPYD, ETFB, GALC, GLB1, NPHS1, PAH, SERPINA1, SLC26A2 ABCA4, ALPL, ATP7B, DPYD, ETFB, GALC, GLB1, NPHS1, PAH, PHOX2B, SERPINA1, SLC26A2, TMPPE 14 1 LOVD-team, but with Curator vacancy
00000023 - PubMed: Bell 2011 - - - - - - 0 - - - - ALPL, ATP7B, CBS, CEP290, COL17A1, CYP21A2, DPYD, GBA, GLB1, NHLRC1, SERPINA1, SLC26A2, SLC3A1, SMPD1 ABCA4, ALPL, ATP7B, CEP290, COL17A1, CYP21A2, DPYD, GBA, GLB1, HTT, NHLRC1, SERPINA1, SLC26A2, SLC3A1, SMPD1, TMPPE 17 1 LOVD-team, but with Curator vacancy
00000024 - PubMed: Bell 2011 - - - - - - 0 - - - - AGA, AMPD1, ATP7B, CBS, CPT1A, CYP21A2, DPYD, ETFB, MEFV, NPHP4, NPHS1, SERPINA1 ABCA4, AGA, AMPD1, ATP7B, CPT1A, CYP21A2, DPYD, ETFB, MEFV, NPHP4, NPHS1, SERPINA1 16 1 LOVD-team, but with Curator vacancy
00000025 - PubMed: Bell 2011 - - - - - - 0 - - - - AMPD1, ATP7B, ATR, CBS, CFTR, CYP21A2, ETFB, GLB1, HBB, IGHMBP2, NPHS1, PAH, SERPINA1, SLC26A2 ABCA4, AMPD1, ATP7B, ATR, CFTR, CYP21A2, ETFB, GLB1, HBB, IGHMBP2, NPHS1, PAH, PRKAR1A, SERPINA1, SLC26A2, TMPPE 16 1 LOVD-team, but with Curator vacancy
00000026 - PubMed: Bell 2011 - - - - - - 0 - - - - AMPD1, ATP7B, CBS, CPT1A, ETFB, GLB1, GRHPR, HEXB, INVS, MECP2, MEFV, NHLRC1, NPHS1, NTRK1, SERPINA1, SLC26A2 ABCA4, ATP7B, CPT1A, ETFB, GLB1, GRHPR, HEXB, INVS, MECP2, MEFV, NHLRC1, NPHS1, NTRK1, SERPINA1, SLC26A2, TMPPE 17 1 LOVD-team, but with Curator vacancy
00000027 - PubMed: Bell 2011 - - - - - - 0 - - - - AMPD1, ARSB, ATP7B, CBS, CFTR, DPYD, ETFB, HEXB, MYO5A, NHLRC1, NPC1, NPHS1, SLC26A2 ABCA4, AMPD1, ARSB, ATP7B, CFTR, DPYD, ETFB, HEXB, MYO5A, NHLRC1, NPC1, NPHS1, PRKAR1A, SLC26A2 14 1 LOVD-team, but with Curator vacancy
00000028 - PubMed: Bell 2011 - - - - - - 0 - - - - ALG1, AMPD1, ATP7B, BTD, CBS, CLN3, CYP21A2, FGG, GALC, GLB1, JAK3, NPHS1, RAG2, RPGRIP1L, SERPINA1, SLC26A2 ABCA4, ALG1, AMPD1, ATP7B, BTD, CLN3, CYP21A2, FGG, GALC, GLB1, JAK3, NPHS1, PRKAR1A, RAG2, RPGRIP1L, SERPINA1, SLC26A2, TMPPE 18 1 LOVD-team, but 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 ABCA4, ALG9, ASPM, B3GLCT, BBS1, CC2D1A, CDK5RAP2, DLG3, DNMT3B, DPM1, DPP3, GLI3, HTT, JAG1, KRAS, MECP2, MPDU1, NLGN4X, NSD1, PCCA, PHF8, PMM2, PRKAR1A, RAI1, REST, SATB2, SCN8A, SHANK3, SLC35C1, TCF4, TSC1, UPF3B, ZEB2, ZNF41 46 1 LOVD-team, but with Curator vacancy
00000030 - PubMed: Bell 2011 - - - - - - 0 - - - - ADA, ATP7B, CPT2, GALC, HEXB, IGHMBP2, NHLRC1, SBDS, SERPINA1, SLC26A2, SMPD1, TTPA, WNT10A ABCA4, ADA, ATP7B, GALC, HEXB, IGHMBP2, NHLRC1, PCCA, SBDS, SERPINA1, SLC26A2, SMPD1, TTPA, WNT10A 15 1 LOVD-team, but with Curator vacancy
00000031 - PubMed: Bell 2011 - - - - - - 0 - - - - ADA, ATP7B, CYP21A2, DPYD, ETFB, FKTN, GAA, GLB1, IGHMBP2, NHLRC1, NPHS1, SERPINA1, TMEM67, WNT10A ABCA4, ADA, ATP7B, CYP21A2, DPYD, ETFB, FKTN, GAA, GLB1, IGHMBP2, NHLRC1, NPHS1, PCCA, PRKAR1A, SERPINA1, TMEM67, TMPPE, WNT10A 19 1 LOVD-team, but with Curator vacancy
00000032 - PubMed: Bell 2011 - - - - - - 0 - - - - ADA, ATP7B, BTD, DPYD, GLB1, HEXB, PKHD1, PMM2, RAD51C, RPGRIP1L, SERPINA1, SLC26A2, SMPD1 ABCA4, ADA, ATP7B, BTD, GLB1, HEXB, PKHD1, PMM2, RAD51C, RPGRIP1L, SERPINA1, SLC26A2, SMPD1, TMPPE 13 1 LOVD-team, but with Curator vacancy
00000033 - PubMed: Bell 2011 - - - - - - 0 - - - - ATP7B, CDH23, CYP21A2, DPYD, ETFB, GAA, HADHA, HESX1, NHLRC1, PHEX, RAD51C, SERPINA1, USH2A ABCA4, ATP7B, BRCA2, CDH23, CYP21A2, DPYD, ETFB, GAA, HADHA, HESX1, NHLRC1, PRKAR1A, RAD51C, SERPINA1, USH2A 15 1 LOVD-team, but with Curator vacancy
00000034 - PubMed: Bell 2011 - - - - - - 0 - - - - ATP7B, CBS, CYP21A2, DPYD, ETFB, GLB1, GNPTAB, IGHMBP2, NHLRC1, RAD51C, SERPINA1, SLC26A2, SMPD1 ABCA4, ATP7B, CBS, CYP21A2, DPYD, ETFB, GLB1, GNPTAB, IGHMBP2, NHLRC1, PRKAR1A, RAD51C, SERPINA1, SLC26A2, SMPD1, TMPPE 17 1 LOVD-team, but with Curator vacancy
00000035 - PubMed: Bell 2011 - - - - - - 0 - - - - ADA, ATP7B, BLM, CFTR, DPYD, ETFB, GLB1, HBB, IGHMBP2, MYO5A, PKHD1, RAD51C, SERPINA1, SMPD1 ABCA4, ADA, ATP7B, BLM, CFTR, DPYD, ETFB, GLB1, HBB, IGHMBP2, MYO5A, PKHD1, PRKAR1A, RAD51C, SERPINA1, SMPD1, TMPPE 19 1 LOVD-team, but with Curator vacancy
00000036 - PubMed: Bell 2011 - - - - - - 0 - - - - AHI1, ATP7B, CYP21A2, DPYD, ETFB, GLB1, HEXB, LAMA2, RAD51C, SMPD1 ABCA4, AHI1, ATP7B, CYP21A2, DPYD, ETFB, GLB1, HEXB, LAMA2, PRKAR1A, RAD51C, SMPD1, TMPPE 11 1 LOVD-team, but with Curator vacancy
00000037 - PubMed: Bell 2011 - - - - - - 0 - - - - ATM, ATP7B, DPYD, ETFB, HEXB, NHLRC1, NPHS1, SBDS, SLC26A2, SLC3A1, SMN1, SMPD1 ABCA4, ATM, ATP7B, DPYD, ETFB, HEXB, NHLRC1, NPHS1, PRKAR1A, SBDS, SLC26A2, SLC3A1, SMN1, SMPD1 14 1 LOVD-team, but with Curator vacancy
00000038 - PubMed: Bell 2011 - - - - - - 0 - - - - ALS2, ATP7B, CFTR, DPYD, GLB1, HEXB, MTHFR, MYO5A, NHLRC1, SMPD1 ABCA4, ALS2, ATP7B, CFTR, DPYD, GLB1, HEXB, MYO5A, NHLRC1, PRKAR1A, SMPD1, TMPPE 11 1 LOVD-team, but with Curator vacancy
00000039 - PubMed: Bell 2011 - - - - - - 0 - - - - AHI1, ATP7B, DPYD, ETFB, GAA, GLB1, LAMA2, MTHFR, NPHP4, NPHS1, P3H1, SBDS, SLC26A2 ABCA4, AHI1, ATP7B, DPYD, ETFB, GAA, GLB1, LAMA2, MTHFR, NPHP4, NPHS1, P3H1, PRKAR1A, SBDS, SLC26A2, TMPPE 15 1 LOVD-team, but with Curator vacancy
00000040 - PubMed: Bell 2011 - - - - - - 0 - - - - ATP7A, DPYD, GLB1, LAMA2 ABCA4, ATP7A, DPYD, GLB1, LAMA2, PRKAR1A, SAMHD1, TMPPE 5 1 LOVD-team, but with Curator vacancy
00000041 - PubMed: Bell 2011 - - - - - - 0 - - - - ATP7A, ATP7B, DPYD, ETFB, IGHMBP2, MPL, MYO5A, NHLRC1, NPHP4, NPHS1, PLP1, SERPINA1 ABCA4, ATP7A, ATP7B, DPYD, ETFB, HTT, IGHMBP2, MPL, MYO5A, NHLRC1, NPHP4, NPHS1, SERPINA1 14 1 LOVD-team, but with Curator vacancy
00000042 - PubMed: Bell 2011 - - - - - - 0 - - - - ATP7B, DPYD, ETFB, GLB1, IGHMBP2, JAK3, NPHP4, NPHS1, POLG, QARS, SERPINA1, SLC26A2, SMPD1 ABCA4, ATP7B, DPYD, ETFB, GLB1, IGHMBP2, JAK3, NPHP4, NPHS1, POLG, SERPINA1, SLC26A2, SMPD1, TMPPE 14 1 LOVD-team, but with Curator vacancy
00000043 - PubMed: Bell 2011 - - - - - - 0 - - - - ATP7B, DPYD, IGHMBP2, MYO5A, NHLRC1, NPHS1, PCK1, SERPINA1, SLC26A2 ABCA4, ATP7B, DPYD, IGHMBP2, MYO5A, NHLRC1, NPHS1, SERPINA1, SLC26A2 12 1 LOVD-team, but with Curator vacancy
00000044 - PubMed: Bell 2011 - - - - - - 0 - - - - ASS1, ATP7B, DPYD, ETFB, GCDH, GLB1, HADHA, HGSNAT, IGHMBP2, KCNQ2, MKS1, MYO5A ABCA4, ASS1, ATP7B, DPYD, ETFB, GCDH, GLB1, HADHA, HGSNAT, IGHMBP2, MKS1, MYO5A, TMPPE 13 1 LOVD-team, but with Curator vacancy
00000045 - PubMed: Bell 2011 - - - - - - 0 - - - - ATP2B3, ATP7B, DPYD, IGHMBP2, MYO5A, SERPINA1, SMPD1 ABCA4, ATP7B, DPYD, IGHMBP2, MYO5A, SERPINA1, SMPD1 8 1 LOVD-team, but with Curator vacancy
00000046 - PubMed: Bell 2011 - - - - - - 0 - - - - AGXT, ATP7B, CFTR, CYP27A1, DPYD, EHMT1, GLB1, IGHMBP2, NPHS1, POLG, SERPINA1, SMPD1 ABCA4, AGXT, ATP7B, CFTR, CYP27A1, DPYD, GLB1, IGHMBP2, NPHS1, POLG, SERPINA1, SMPD1, TMPPE 15 1 LOVD-team, but with Curator vacancy
00000047 - PubMed: Bell 2011 - - - - - - 0 - - - - ATP7B, BCKDHA, DPYD, ETFB, HEXB, IGHMBP2, KMT2A, MEFV, MPL, MYO5A, NHLRC1, NPC1, NPHS1, SERPINA1 ABCA4, ATP7B, BCKDHA, DPYD, ETFB, HEXB, IGHMBP2, MEFV, MPL, MYO5A, NHLRC1, NPC1, NPHS1, SERPINA1 17 1 LOVD-team, but with Curator vacancy
00000048 - PubMed: Bell 2011 - - - - - - 0 - - - - ATP7B, CPT1A, DPYD, ETFB, GAA, GBA, GLB1, IGHMBP2, LAMA2, MEFV, NHLRC1, NPHS1, SERPINA1 ABCA4, ATP7B, CPT1A, DPYD, ETFB, GAA, GBA, GLB1, IGHMBP2, LAMA2, MEFV, NHLRC1, NPHS1, SERPINA1, TMPPE 15 1 LOVD-team, but with Curator vacancy
00000049 - PubMed: Bell 2011 - - - - - - 0 - - - - ATP7B, CYP21A2, DPYD, ETFB, GALC, GLB1, IGHMBP2, LAMA2, MPL, MYO5A, NPHP4, SERPINA1, SGSH, SLC26A2 ABCA4, ATP7B, CYP21A2, DPYD, ETFB, GALC, GLB1, IGHMBP2, LAMA2, MPL, MYO5A, NPHP4, SERPINA1, SGSH, SLC26A2, TMPPE 17 1 LOVD-team, but with Curator vacancy
00000050 - PubMed: Bell 2011 - - - - - - 0 - - - - ADA, ATP7B, CYP21A2, DPYD, ETFB, GLB1, IGHMBP2 ABCA4, ADA, ATP7B, CYP21A2, DPYD, ETFB, GLB1, IGHMBP2, TMPPE 10 1 LOVD-team, but with Curator vacancy
00000051 - PubMed: Bell 2011 - - - - - - 0 - - - - AGXT, AHI1, ATP7B, DPYD, ETFB, FAH, GALC, GLB1, IGHMBP2, MYO5A, NHLRC1, NPHS1, PKHD1 ABCA4, AGXT, AHI1, ATP7B, DPYD, ETFB, FAH, GALC, GLB1, IGHMBP2, MYO5A, NHLRC1, NPHS1, PKHD1, TMPPE 15 1 LOVD-team, but with Curator vacancy
00000052 - PubMed: Bell 2011 - - - - - - - - - - - ARSB, DPYD, ERCC4, ETFB, NPHS1 ABCA4, ARSB, DPYD, ERCC4, ETFB, NPHS1 6 1 LOVD-team, but with Curator vacancy
00000053 - PubMed: Bell 2011 JPT/HANā€HapMap sample F - - - - 0 - - - - AHI1, ATP7B, DMD, DPYD, ETFB, GALC, GLB1, MTHFR, MYO5A, NHLRC1, SERPINA1 ABCA4, AHI1, ATP7B, DMD, DPYD, ETFB, GALC, GLB1, MTHFR, MYO5A, NHLRC1, SERPINA1, TMPPE 12 1 LOVD-team, but with Curator vacancy
00000054 - PubMed: Bell 2011 - - - - - - - - - - - ATM, ATP7B, DPYD, ETFB, GALC, GLB1, GNPTAB, LAMA2, LAMA3, NHLRC1, NPHS1, SERPINA1, SLC26A2 ABCA4, ATM, ATP7B, DPYD, ETFB, GALC, GLB1, GNPTAB, HTT, LAMA2, LAMA3, NHLRC1, NPHS1, SERPINA1, SLC26A2, TMPPE 14 1 LOVD-team, but with Curator vacancy
00000055 - PubMed: Bell 2011 - - - - - - - - - - - ACADVL, AGXT, ATP7B, DPYD, ETFB, GLB1, HBB, MYO5A, NHLRC1, NPHS1, SERPINA1 ABCA4, ACADVL, AGXT, ATP7B, DPYD, ETFB, GLB1, HBB, MYO5A, NHLRC1, NPHS1, SERPINA1, TMPPE 13 1 LOVD-team, but with Curator vacancy
00000056 - PubMed: Bell 2011 - - - - - - - - - - - ACADL, ADA, ASPA, ATP7B, BTD, CYP27A1, DPYD, ETFB, GLB1, HEXB, IGHMBP2, NPHS1, SERPINA1, SLC26A2 ABCA4, ACADL, ADA, ASPA, ATP7B, BTD, CYP27A1, DPYD, ETFB, GLB1, HEXB, IGHMBP2, NPHS1, SERPINA1, SLC26A2, TMPPE 16 1 LOVD-team, but with Curator vacancy
00000057 - PubMed: Bell 2011 - - - - - - - - - - - ALDOB, ATM, ATP7B, DPYD, ERCC6, ETFB, GAA, IGHMBP2, LAMA2, NHLRC1, NPHS1, SERPINA1 ABCA4, ALDOB, ATM, ATP7B, DPYD, ERCC6, ETFB, GAA, HTT, IGHMBP2, LAMA2, NHLRC1, NPHS1, SERPINA1 16 1 LOVD-team, but 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 LOVD-team, but with Curator vacancy
00000059 - PubMed: Bell 2011 - - - - - - - - - - - ATP7B, GBA, GLB1, IKBKAP, MEFV, NPHS1, SERPINA1 ATP7B, GBA, GLB1, IKBKAP, MEFV, NPHS1, SERPINA1, TMPPE 8 1 LOVD-team, but 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 LOVD-team, but 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 LOVD-team, but 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 LOVD-team, but 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 LOVD-team, but 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 LOVD-team, but 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 LOVD-team, but 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 LOVD-team, but 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, CPT1A, CYP21A2, ETFB, GALC, GLB1, MEFV, MTHFR, MVK, NHLRC1, NPHS1, SERPINA1, SLC26A2, SMPD1, TMPPE, WNT10A 18 1 LOVD-team, but with Curator vacancy
00000068 - PubMed: Bell 2011 - - - - - - - - - - in vitro assay 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 LOVD-team, but 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, GLB1, HEXA, HEXB, HTT, LAMA2, MTHFR, MYO5A, NHLRC1, NPHS1, PMM2, SBDS, TMPPE 17 1 LOVD-team, but with Curator vacancy
00000070 - PubMed: Bell 2011 - - - - - - - - - - - ACADSB, ATP7B, CFTR, ETFB, HBA1, IGHMBP2, MTHFR, MYO5A, SERPINA1, SLC26A2 ACADSB, ATP7B, CFTR, ETFB, HBA1, HBA2, HBM, HBQ1, HBZ, IGHMBP2, MTHFR, MYO5A, SERPINA1, SLC26A2 10 1 LOVD-team, but 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 LOVD-team, but 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 LOVD-team, but 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 LOVD-team, but with Curator vacancy
00000074 - PubMed: Bell 2011 - - - - - - - - - - - AGXT, ATP7B, CFTR, ERCC5, GLB1, MTHFR, NHLRC1, NPHS1, SERPINA1 AGXT, ATP7B, CFTR, ERCC5, GLB1, MTHFR, NHLRC1, NPHS1, SERPINA1, TMPPE 9 1 LOVD-team, but 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 LOVD-team, but 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 LOVD-team, but 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 LOVD-team, but 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 LOVD-team, but with Curator vacancy
00000079 - PubMed: Bell 2011 - - - - - - - - - - - CDH23, GPR98, NHLRC1, NPHS1, SERPINA1 CDH23, GPR98, NHLRC1, NPHS1, SERPINA1 5 1 LOVD-team, but 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 LOVD-team, but 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 LOVD-team, but 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 LOVD-team, but 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 LOVD-team, but 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 LOVD-team, but 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 LOVD-team, but 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, IGHMBP2, NHLRC1, POLG, SERPINA1, SLC26A2, TMPPE 13 1 LOVD-team, but with Curator vacancy
00000087 - PubMed: Bell 2011 - - - - - - - - - - - AHI1, ATP7B, BTD, CYP21A2, ETFB, FRAS1, GLB1, IGHMBP2, NHLRC1, SERPINA1, SLC26A2 AHI1, ATP7B, BTD, CYP21A2, ETFB, FRAS1, GLB1, IGHMBP2, NHLRC1, SERPINA1, SLC26A2, TMPPE 11 1 LOVD-team, but 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 LOVD-team, but 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 LOVD-team, but 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 LOVD-team, but with Curator vacancy
00000091 - PubMed: Bell 2011 - - - - - - - - - - - GALC, IGHMBP2, MYO5A, NHLRC1, SMPD1 GALC, IGHMBP2, MYO5A, NHLRC1, SMPD1 5 1 LOVD-team, but 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 LOVD-team, but 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 LOVD-team, but 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 LOVD-team, but with Curator vacancy
00000095 - PubMed: Bell 2011 - - - - - - - - - - - ATP7B, CFTR, GLB1, HEXB, NHLRC1, NPHS1, SMPD1 ATP7B, CFTR, GLB1, HEXB, NHLRC1, NPHS1, SMPD1, TMPPE 7 1 LOVD-team, but 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 LOVD-team, but with Curator vacancy
00000097 - PubMed: Bell 2011 - - - - - - - - - - - ETFB, FKTN, GLB1, PAH, SERPINA1 ETFB, FKTN, GLB1, PAH, SERPINA1, TMPPE 6 1 LOVD-team, but with Curator vacancy
00000098 - PubMed: Bell 2011 - - - - - - - - - - - ATP7B, GLB1, NHLRC1, SERPINA1 ATP7B, GLB1, NHLRC1, SERPINA1, TMPPE 5 1 LOVD-team, but with Curator vacancy
00000099 - PubMed: Bell 2011 - - - - - - - - - - - ARSB, ATP7B, ETFB, HESX1, HGSNAT, LAMA2, NHLRC1, SERPINA1, SLC26A2 ARSB, ATP7B, ETFB, HESX1, HGSNAT, LAMA2, NHLRC1, SERPINA1, SLC26A2 9 1 LOVD-team, but 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 LOVD-team, but with Curator vacancy
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