All individuals with variants in gene RPGRIP1

478 entries on 5 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5     Next › Last »

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00000223 UNC64 PubMed: Antony 2013 - - - United States - - - - - CILD14 - 1 1 Hannah Mitchison
00016610 - - - - - - - - - - - - - 1 1 Christopher Watson
00033156 - - - F - - - - - - - retinal disease obesity, familial hypercholesterolemia, recurrent cystitis (5y), heart murmur 1 1 Kornelia Neveling
00033352 - PubMed: Abu-Safieh-2013 - - - - - - - - - LCA - 2 1 Leen Abu Safieh
00033353 - PubMed: Abu-Safieh-2013 - - - - - - - - - ? Retinitis punctata albescens 2 1 Leen Abu Safieh
00033354 - PubMed: Abu-Safieh-2013 - - - - - - - - - RD - 2 1 Leen Abu Safieh
00033355 - PubMed: Abu-Safieh-2013 - - - - - - - - - ? Rod Dystrophy 2 1 Leen Abu Safieh
00033356 - PubMed: Abu-Safieh-2013 - - - - - - - - - LCA - 2 1 Leen Abu Safieh
00033357 - PubMed: Abu-Safieh-2013 - - - - - - - - - LCA - 2 1 Leen Abu Safieh
00033361 - PubMed: Abu-Safieh-2013 - - - - - - - - - CORD - 2 1 Leen Abu Safieh
00033362 - PubMed: Abu-Safieh-2013 - - - - - - - - - LCA gliosis 2 1 Leen Abu Safieh
00033363 - PubMed: Abu-Safieh-2013 - - - - - - - - - LCA - 2 1 Leen Abu Safieh
00033588 - - family with 2 affecteds - yes India - - - - - retinal disease - 2 2 Chitra Kannabiran
00033605 Pat1bl PubMed: Neveling 2013 - - - - - - - - - CORD Cone-rod dystrophy with nystagmus 2 1 Marcel Nelen
00033606 - PubMed: Neveling 2013 confirmed in affected sib - - - - - - - - retinal disease - 2 1 Marcel Nelen
00033607 Pat8bl PubMed: Neveling 2013 confirmed in affected sib - - - - - - - - retinal disease - 2 1 Marcel Nelen
00033722 - - - M yes India India, south - - - - LCA - 1 1 Soumittra Nagasamy
00033723 - - - M yes India India, south - - - - LCA - 1 1 Soumittra Nagasamy
00033724 - - - F yes India India, north - - - - LCA - 1 1 Soumittra Nagasamy
00033725 - - - M no India India, south - - - - LCA - 2 1 Soumittra Nagasamy
00038056 - PubMed: Vallespin 2007 - M ? Spain Spanish - - - - LCA ? 1 2 Frans Cremers
00038058 - PubMed: Vallespin 2007 - M ? Spain Spanish - - - - LCA ? 1 2 Frans Cremers
00038059 - PubMed: Vallespin 2007 - M ? Spain Spanish - - - - LCA ? 1 2 Frans Cremers
00038076 - PubMed: Vallespin 2007 - ? ? Spain Spanish - - - - retinal disease ? 1 1 Frans Cremers
00100118 61312 PubMed: Li 2017 - F yes Pakistan Pakistani - - - - LCA - 1 1 James Hejtmancik
00105038 - PubMed: de Castro-Miró 2014 - M no Spain - - - - - LCA - 2 1 Marta de Castro-Miró
00155548 - Sharon, submitted - M no Israel Jewish-Ashkenazi - - - - LCA - 1 2 Dror Sharon
00155549 - Sharon, submitted - M yes Israel Arab-Muslim - - - - LCA - 1 3 Dror Sharon
00155550 - Sharon, submitted - M yes Israel Arab-Muslim - - - - retinal disease - 1 1 Dror Sharon
00173892 31 PubMed: Wang 2014b - F - United States - - - - - CORD - 1 1 Isabelle Audo
00240460 - - - F - Mexico - - - - - RD - 1 1 Juan Carlos Zenteno
00240461 - - - F - Mexico - - - - - RD - 1 1 Juan Carlos Zenteno
00269583 - - - F - Korea - - - - - LCA - 1 1 Jinu Han
00269584 - - - M - Korea - - - - - LCA - 2 1 Jinu Han
00269585 - - - M no Korea - - - - - LCA - 1 1 Jinu Han
00269592 - - - M no Korea - - - - - LCA - 2 1 Jinu Han
00290971 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 209 Mohammed Faruq
00290972 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00290973 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00290974 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 18 Mohammed Faruq
00304420 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 5 Mohammed Faruq
00304421 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00308399 CIC06321 PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - - France - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00308560 - PubMed: Holtan 2020 2 patients with variant in heterozygous or compound heterozygous form - - Norway - - - - - retinal disease - 1 2 Global Variome, with Curator vacancy
00308624 - PubMed: Holtan 2020 1 homozygous patient - - Norway - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00309408 - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00309409 - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00309410 - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00309411 - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00309412 - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00325456 3275 PubMed: Zenteno 2020 single patient - - Mexico - - - - - retinal disease retinitis pigmentosa 1 1 Johan den Dunnen
00325458 3292 PubMed: Zenteno 2020 single patient - - Mexico - - - - - retinal disease syndromic retinal dystrophy 1 1 Johan den Dunnen
00325473 3483 PubMed: Zenteno 2020 - - - Mexico - - - - - retinal disease Leber congenital amaurosis 1 1 Johan den Dunnen
00325490 3592 PubMed: Zenteno 2020 - - - Mexico - - - - - retinal disease Leber congenital amaurosis 1 1 Johan den Dunnen
00327953 B240213 PubMed: Carss 2017 - M - United Kingdom (Great Britain) - - - - - retinal disease - 2 1 LOVD
00328173 G007341 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - retinal disease - 1 1 LOVD
00328328 W000332 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Asia-South - - - - retinal disease - 1 1 LOVD
00328336 W000370 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - retinal disease - 1 1 LOVD
00328496 15004859 PubMed: Taylor 2017 no family history retinal disease M - United Kingdom (Great Britain) - - - - - retinal disease retinal dystrophy (HP:0000556) 2 1 LOVD
00332200 JB307 PubMed: Bryant 2018 - - - United States - - - - - retinal disease - 1 1 LOVD
00332210 JB284 PubMed: Bryant 2018 - - - United States - - - - - retinal disease - 1 1 LOVD
00332216 JB285 PubMed: Bryant 2018 - - - United States - - - - - retinal disease - 2 1 LOVD
00332217 JB124 PubMed: Bryant 2018 - - - United States - - - - - retinal disease - 1 1 LOVD
00332353 Fam479 PubMed: Thompson 2017 family, 2 affected - - Australia - - - - - retinal disease see paper; ... 3 2 LOVD
00332354 Fam1642 PubMed: Thompson 2017 family, 2 affected - - Australia - - - - - retinal disease see paper; ... 2 2 LOVD
00332388 Pat9 PubMed: Rim 2017 - M - Korea - - - - - retinal disease horizontal jerk nystagmus; fundus grossly normal; oculodigital sign; ERG extinguished 2 1 LOVD
00332389 Pat10 PubMed: Rim 2017 - M - Korea - - - - - retinal disease horizontal jerk nystagmus; fundus grossly normal; oculodigital sign; ERG extinguished 1 1 LOVD
00332408 Pat8 PubMed: Han 2017 - - - Korea - - - - - retinal disease see paper; ... 1 1 Johan den Dunnen
00332409 Pat9 PubMed: Han 2017 - - - Korea - - - - - retinal disease see paper; ... 2 1 Johan den Dunnen
00332471 Pat41 PubMed: Di Iorio 2017 - - - Italy - - - - - retinal disease see paper; ... 2 1 LOVD
00333357 Pat6 PubMed: Costa 2017 - M - Brazil - - - - - retinal disease see paper; ... 1 1 LOVD
00333366 Pat11 PubMed: Costa 2017 - F - Brazil - - - - - retinal disease see paper; ... 1 1 LOVD
00333427 RD15–01 PubMed: Wang 2017 - - - United States - - - - - retinal disease see paper; ... 1 1 LOVD
00333430 RD13–08 PubMed: Wang 2017 - - - United States - - - - - retinal disease see paper; ... 1 1 LOVD
00333457 RKK_209 PubMed: Soens 2017 possible duplicate - - - - - - - - retinal disease see paper; ... 1 1 LOVD
00333466 FBP_353 PubMed: Soens 2017 possible duplicate - - - - - - - - retinal disease see paper; ... 2 1 LOVD
00333478 DGB_032 PubMed: Soens 2017 possible duplicate - - - - - - - - retinal disease see paper; ... 2 1 LOVD
00333964 426 PubMed: Stone 2017 1 affected M - (United States) - - - - - retinal disease clinical category IA2b 1 1 LOVD
00333965 427 PubMed: Stone 2017 1 affected F - (United States) - - - - - retinal disease clinical category IA2b 2 1 LOVD
00335168 2533 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - ? 0y-diagnosis visual impairment 2 1 LOVD
00335239 Fi15/12 PubMed: Riera 2017 patient - - Spain - - - - - retinal disease - 2 1 LOVD
00335342 Pat105 PubMed: Bravo-Gil 2017 - - - Spain - - - - - retinal disease see paper; ... 1 1 Nereida Bravo Gil
00335498 IRD002 PubMed: Bernardis 2016 - - Italy - - - - - retinal disease see paper; ... 2 1 LOVD
00335593 - PubMed: Booij 2005 unknown variant 2nd chromosome; not in 60 controls - - - - - - - - retinal disease - 1 1 Julia Lopez
00335594 - PubMed: Booij 2005 unknown variant 2nd chromosome; not in 60 controls - - - - - - - - retinal disease - 1 1 Julia Lopez
00335614 - PubMed: Dryja 2001 - - - - - - - - - retinal disease - 1 1 Julia Lopez
00335615 - PubMed: Dryja 2001 - - - - - - - - - retinal disease - 1 1 Julia Lopez
00335616 - PubMed: Dryja 2001 - - - - - - - - - retinal disease - 1 1 Julia Lopez
00335617 - PubMed: Dryja 2001 - - - - - - - - - retinal disease - 1 1 Julia Lopez
00335618 - PubMed: Dryja 2001 - - - - - - - - - retinal disease - 1 1 Julia Lopez
00335619 - Miller 1988 - - - - - - - - - retinal disease - 1 1 Julia Lopez
00335620 - PubMed: Booij 2005 - - - - - - - - - retinal disease - 1 1 Julia Lopez
00335621 - PubMed: Booij 2005 - - - - - - - - - retinal disease - 1 1 Julia Lopez
00335622 - PubMed: Booij 2005 - - - - - - - - - retinal disease - 1 1 Julia Lopez
00358913 Fam25 PubMed: Wang 2016 family, 1 affected, unaffected heterozygous carrier parents - - China Han - - - - retinal disease see paper; ... 2 1 LOVD
00358914 Fam26 PubMed: Wang 2016 family, 1 affected, unaffected heterozygous carrier parents/relatives - - China Han - - - - retinal disease see paper; ... 1 1 LOVD
00358915 Fam27 PubMed: Wang 2016 family, 1 affected, unaffected heterozygous carrier parents/relatives - - China Han - - - - retinal disease see paper; ... 1 1 LOVD
00358916 Fam28 PubMed: Wang 2016 family, 1 affected, unaffected heterozygous mother - - China Han - - - - retinal disease see paper; ... 2 1 LOVD
00358930 Case27536 PubMed: Tiwari 2016 - - - Turkey - - - - - retinal disease see paper; ... 1 1 LOVD
00358951 Case71927 PubMed: Tiwari 2016 see paper F - Switzerland - - - - - retinal disease see paper; ... 1 1 LOVD
Legend   How to query   « First ‹ Prev     1 2 3 4 5     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.