All individuals with variants in gene GLB1

124 entries on 2 pages. Showing entries 1 - 100.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00000005 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000009 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000011 NA04364 PubMed: Bell 2011 - M - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00000014 - PubMed: Bell 2011 - - - - - - - - - autism, BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000015 - PubMed: Bell 2011 - - - - - - - - - autism, BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000016 - PubMed: Bell 2011 - - - - - - - - - autism, BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000017 - PubMed: Bell 2011 - - - - - - - - - autism, BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000018 - PubMed: Bell 2011 - - - - - - - - - autism, BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000020 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000021 - PubMed: Bell 2011 - - - - - - - - - BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000022 - PubMed: Bell 2011 - - - - - - - - - BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000023 - PubMed: Bell 2011 - - - - - - - - - BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000025 - PubMed: Bell 2011 - - - - - - - - - BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000026 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000028 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000031 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000034 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000035 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000036 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000038 - PubMed: Bell 2011 - - - - - - - - - epilepsy - 1 1 Global Variome, with Curator vacancy
00000039 - PubMed: Bell 2011 - - - - - - - - - ADPKD - 1 1 Global Variome, with Curator vacancy
00000040 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000042 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000044 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000046 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000048 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000049 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000050 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000051 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000053 - PubMed: Bell 2011 JPT/HAN‐HapMap sample F - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000054 - PubMed: Bell 2011 - - - - - - - - - ABL see paper; … 1 1 Global Variome, with Curator vacancy
00000055 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000056 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000059 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000060 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000061 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000062 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000063 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000064 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000065 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000067 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000069 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000072 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000073 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000074 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000076 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000077 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000078 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000081 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000082 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000084 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000086 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000087 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000088 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000089 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000090 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000092 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000093 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000094 - PubMed: Bell 2011 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00000095 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000096 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000097 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000098 - PubMed: Bell 2011 - - - - - - - - - - - 1 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 1 1 Global Variome, with Curator vacancy
00000107 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 3 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 3 1 Yu Sun
00146556 - - - ? - (Germany) - - - - - ? HP:0001789 (Hydrops fetalis) 2 1 IMGAG
00245719 - PubMed: Higaki et al 2011 - - - - Japanese - - - - GM1G1 - 1 1 LOVD
00245720 - PubMed: Higaki et al 2011 - - - - Japanese - - - - GM1G1 - 1 1 LOVD
00245721 - PubMed: Higaki et al 2011 - - - - - - - - - GM1G1 - 1 1 LOVD
00245722 - PubMed: Higaki et al 2011 - - - - Japanese - - - - GM1G1 - 1 1 LOVD
00245723 - PubMed: Higaki et al 2011 - - - - Russian - - - - GM1G1 - 1 1 LOVD
00245724 - PubMed: Higaki et al 2011 - - - - British - - - - GM1G1 - 1 1 LOVD
00245725 - PubMed: Higaki et al 2011 - - - - Belgian - - - - GM1G1 - 1 1 LOVD
00245726 - PubMed: Higaki et al 2011 - - - - Estonian - - - - GM1G1 - 2 1 LOVD
00245727 - PubMed: Higaki et al 2011 - - - - Japanese - - - - GM1G3 - 2 1 LOVD
00245728 - PubMed: Higaki et al 2011 - - - - - - - - - GM1G3 - 2 1 LOVD
00245729 - PubMed: Higaki et al 2011 - - - - Japanese - - - - GM1G1 - 2 1 LOVD
00245730 - PubMed: Higaki et al 2011 - - - - Japanese - - - - GM1G1 - 2 1 LOVD
00245731 - PubMed: Higaki et al 2011 - - - - United Arab Emirates - - - - GM1G1 - 1 1 LOVD
00245732 - PubMed: Higaki et al 2011 - - - - Indian - - - - GM1G1 - 1 1 LOVD
00245733 - PubMed: Higaki et al 2011 - - - - Turkish - - - - GM1G1 - 1 1 LOVD
00245734 - PubMed: Higaki et al 2011 - - - - Turkish - - - - GM1G1 - 1 1 LOVD
00245735 - PubMed: Higaki et al 2011 - - - - Turkish - - - - GM1G1 - 1 1 LOVD
00245736 - PubMed: Higaki et al 2011 - - - - Turkish - - - - GM1G1 - 1 1 LOVD
00245737 - PubMed: Higaki et al 2011 - - - - - - - - - GM1G3 - 2 1 LOVD
00245738 - PubMed: Higaki et al 2011 - - - - Japanese - - - - GM1G3 - 2 1 LOVD
00245739 - PubMed: Higaki et al 2011 - - - - Estonian - - - - GM1G1 - 2 1 LOVD
00245740 - PubMed: Higaki et al 2011 - - - - Belgian - - - - GM1G3 - 2 1 LOVD
00245741 - PubMed: Higaki et al 2011 - - - - Japanese - - - - GM1G1 - 1 1 LOVD
00245742 - PubMed: Higaki et al 2011 - - - - Japanese - - - - GM1G1 - 2 1 LOVD
00245743 - PubMed: Higaki et al 2011 - - - - Japanese - - - - GM1G1 - 2 1 LOVD
00245744 - PubMed: Higaki et al 2011 - - - - Japanese - - - - GM1G1 - 2 1 LOVD
00264105 - - - M - - - - - - - - Neurodegeneration (HP:0002180) 2 1 Andreas Laner
00293318 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00293319 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00293320 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 19 Mohammed Faruq
00293321 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00293322 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 17 Mohammed Faruq
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