All individuals with variants in gene CFH

38 entries on 1 page. Showing entries 1 - 38.
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AscendingIndividual ID     
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VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00033161 - - - M - - - - - - - retinal disease lumped pigmentary retinal degeneration, early onset; ferriprive anemia 2 1 Kornelia Neveling
00180380 - PubMed: Allikmets 2008 American cohort F;M - United States American - - for details see the Uveogene database - uveitis - 1 6 Peizeng Yang
00180381 - PubMed: Allikmets 2008 American cohort F;M - United States American - - for details see the Uveogene database - uveitis - 1 30 Peizeng Yang
00180382 - PubMed: Allikmets 2008 American cohort F;M - United States American - - for details see the Uveogene database - uveitis - 1 53 Peizeng Yang
00180383 - PubMed: Allikmets 2008 American cohort F;M - United States American - - for details see the Uveogene database - uveitis - 1 106 Peizeng Yang
00180532 - PubMed: Nussenblatt 2013 Finnish cohort F;M - Finland Finnish - - for details see the Uveogene database - BLAUS - 1 40 Peizeng Yang
00362000 Pat3AB PubMed: Duvvari 2016 patient - - Netherlands white - - - - retinal disease - 1 1 LOVD
00362006 Pat9AB PubMed: Duvvari 2016 patient - - Netherlands white - - - - retinal disease - 1 1 LOVD
00362653 - PubMed: Fuse 2006 - - - Japan Japanese - - - - retinal disease - 1 1 Julia Lopez
00362654 - PubMed: Fuse 2006 - - - Japan Japanese - - - - retinal disease - 1 1 Julia Lopez
00373509 RH11 PubMed: Liu 2015 - - - China - - - - - retinal disease see paper; ... 2 1 LOVD
00373527 Pat96 PubMed: Zaneveld 2015 - - - Canada - - - - - retinal disease see paper; ... 1 1 LOVD
00375425 RP#019 PubMed: Katagiri 2014 family - - Japan - - - - - retinal disease see paper; ... 1 1 LOVD
00376191 - PubMed: Barbazetto 2007 - F - - European-Americans - - - - retinal disease Type Drusen Cuticular, Soft indistinct and Pseudo-vitelliform detachment present 1 1 LOVD
00376192 - PubMed: Barbazetto 2007 - M - - European-Americans - - - - retinal disease Type Drusen Cuticular, Soft indistinct and Pseudo-vitelliform detachment present 1 1 LOVD
00376193 - PubMed: Barbazetto 2007 - F - - European-Americans - - - - retinal disease Type Drusen Cuticular and Pseudo-vitelliform detachment absent 1 1 LOVD
00376194 - PubMed: Barbazetto 2007 - F - - European-Americans - - - - retinal disease Type Drusen Cuticular and Pseudo-vitelliform detachment present 1 1 LOVD
00376196 - PubMed: Barbazetto 2007 - M - - European-Americans - - - - retinal disease Type Drusen Cuticular, Soft indistinct and Pseudo-vitelliform detachment absent 1 1 LOVD
00376197 - PubMed: Barbazetto 2007 - F - - European-Americans - - - - retinal disease Type Drusen Cuticular, Soft indistinct and Pseudo-vitelliform detachment present 1 1 LOVD
00376199 - PubMed: Barbazetto 2007 - F - - European-Americans - - - - retinal disease bilateral small pseudo-vitelliform detachments surrounded by soft and cuticular drusen 1 1 LOVD
00376200 - PubMed: Barbazetto 2007 - F - - European-Americans - - - - retinal disease Type Drusen Cuticular, Soft indistinct and Pseudo-vitelliform detachment present 1 1 LOVD
00376201 - PubMed: Barbazetto 2007 - F - - European-Americans - - - - retinal disease Type Drusen Cuticular and Pseudo-vitelliform detachment present 1 1 LOVD
00376202 - PubMed: Barbazetto 2007 - F - - European-Americans - - - - retinal disease Type Drusen Cuticular, Soft indistinct and Pseudo-vitelliform detachment present 1 1 LOVD
00376203 - PubMed: Barbazetto 2007 - M - - European-Americans - - - - retinal disease Type Drusen Cuticular, Soft indistinct and Pseudo-vitelliform detachment present 1 1 LOVD
00376204 - PubMed: Barbazetto 2007 - F - - European-Americans - - - - retinal disease Type Drusen Cuticular and Pseudo-vitelliform detachment present 1 1 LOVD
00376205 - PubMed: Barbazetto 2007 - M - - European-Americans - - - - retinal disease Type Drusen Cuticular and Pseudo-vitelliform detachment absent 1 1 LOVD
00376206 - PubMed: Barbazetto 2007 - F - - European-Americans - - - - retinal disease Type Drusen Cuticular, Soft indistinct and Pseudo-vitelliform detachment present 1 1 LOVD
00376207 - PubMed: Barbazetto 2007 - F - - European-Americans - - - - retinal disease Type Drusen Cuticular, Soft indistinct and Pseudo-vitelliform detachment present 1 1 LOVD
00376208 - PubMed: Barbazetto 2007 - F - - European-Americans - - - - retinal disease Type Drusen Cuticular, Soft indistinct and Pseudo-vitelliform detachment absent 1 1 LOVD
00376209 - PubMed: Barbazetto 2007 - F - - European-Americans - - - - retinal disease Type Drusen Cuticular, Soft indistinct and Pseudo-vitelliform detachment present 1 1 LOVD
00376210 - PubMed: Barbazetto 2007 - F - - European-Americans - - - - retinal disease Type Drusen Cuticular, Soft indistinct and Pseudo-vitelliform detachment present 1 1 LOVD
00376211 - PubMed: Barbazetto 2007 - F - - European-Americans - - - - retinal disease Type Drusen Cuticular, Soft indistinct and Pseudo-vitelliform detachment absent 1 1 LOVD
00376212 - PubMed: Barbazetto 2007 - M - - European-Americans - - - - retinal disease Type Drusen Cuticular and Pseudo-vitelliform detachment present 1 1 LOVD
00377587 MOL1154 PubMed: Namburi 2020 4-generation family, 6 affected (6F) F - Georgia Jewish - - - - macular dystrophy see paper; ... 1 6 Johan den Dunnen
00414390 WHP57 PubMed: Sun 2018 - M - China - - - - - ? Focal Segmental Glomerulosclerosis 5; Alport Syndrome; Hemolytic Uremic syndrome susceptibility to 1 1 1 LOVD
00414429 WHP96 PubMed: Sun 2018 - M - China - - - - - ? Hemolytic Uremic syndrome susceptibility to 1;Hemolytic Uremic syndrome susceptibility to 2 1 1 LOVD
00414778 ? PubMed: Fisher 2007 case-control study (1662 AMD cases, 1160 controls) ? - - - - - - - retinal disease - 1 1 LOVD
00451208 072049 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - macular dystrophy - 1 1 Johan den Dunnen
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