All individuals with variants in gene AHI1

32 entries on 1 page. Showing entries 1 - 32.
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00000036 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000039 - PubMed: Bell 2011 - - - - - - 0 - - ADPKD - 1 1 Global Variome, with Curator vacancy
00000051 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000053 - PubMed: Bell 2011 JPT/HAN‐HapMap sample F - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000066 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000069 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000087 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000094 - PubMed: Bell 2011 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00000096 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00028912 - - - - - - - - 0 - - JBTS-1 - 2 1 Sanne Savelberg
00028913 - - - - - - - - 0 - - JBTS-1 - 2 1 Sanne Savelberg
00028914 - - - - - - - - 0 - - JBTS-1 - 2 1 Sanne Savelberg
00028915 - - - - - - - - 0 - - JBTS-1 - 1 1 Sanne Savelberg
00033096 - PubMed: Neveling 2012 - M no - - - 0 - - retinal disease - 2 1 Kornelia Neveling
00033337 - - - - ? Saudi Arabia - - 0 - - JBTS-1 - 2 1 Anas M Alazami
00056048 - PubMed: Watson 2016, Journal: Watson 2016 - ? - United Kingdom (Great Britain) - - 0 - - JBTS Joubert syndrome 1 1 Christopher Watson
00056049 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - 0 - - JBTS Joubert syndrome 1 1 Christopher Watson
00081101 - Haer-Wigman 2016 - ? no - - - 0 - - retinal disease - 2 1 Lonneke Haer-Wigman
00155377 - Sharon, submitted - F no Israel Jewish - 0 - - retinal disease - 2 2 Dror Sharon
00240422 - - - M - Mexico - - 0 - - RD - 1 1 Juan Carlos Zenteno
00269432 - - - M no Korea Asian 24y 0 - - JBTS-3, LCA-10 - 1 1 Jinu Han
00269890 - - - ? - - - - 0 - - ? Global developmental delay (HP:0001263); Hypermetropia (HP:0000540) 1 1 IMGAG
00293985 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 41 Mohammed Faruq
00293986 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 7 Mohammed Faruq
00293987 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 45 Mohammed Faruq
00293988 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 30 Mohammed Faruq
00293989 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 3 Mohammed Faruq
00299641 FamGC3626Pat2 PubMed: Arno 2017 2-generation family, 1 affeted M - - - - 0 - - retinal disease see paper; ..., 29y-photopsia (HP:0030786), slightly reduced acuity (HP:0007663), mild nyctalopia (HP:0000662); irregular pigmented lesions in periphery(HP:0007703), pale discs (HP:0000543), cystoid macular edema (HP:0011505), peripheral telangiectasia (HP:0007763) with some retinal edema (HP:0020120) and vitreous cells (HP:0004327), possible para-arteriolar sparing; 29y-ERG no identifiable responses other than a minimal, delayed response to 30Hz flicker (PERG, EOG and ERG tested), severe photoreceptor dysfunction; 29y-colour vision Ishihara 15/15 each eye; 29y-Goldmann visual fields ring scotoma at 30 degrees, binocular Esterman age 36: central 20 degrees only retained; presenting VA logMAR (Snellen) R 0.48 (20/60), L 0.3 (20/40); latest VA logMAR R 1.8 (20/1250), L 1.5 (20/630); latest refractive error, dioptres R -1.00/-1.00x5, L +0.75/-1.00x90 1 1 Johan den Dunnen
00308713 - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - 0 - - Healthy/Control - 1 1 Global Variome, with Curator vacancy
00308938 - PubMed: Sharon 2019 1 IRD family - - Israel - - 0 - - retinal disease - 1 1 Global Variome, with Curator vacancy
00308939 - PubMed: Sharon 2019 1 IRD family - - Israel - - 0 - - retinal disease - 1 1 Global Variome, with Curator vacancy
00311013 - - - - - - - - - - - JBTS - 1 1 Yuri Uchiyama
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