All individuals with variants in gene FYCO1

70 entries on 1 page. Showing entries 1 - 70.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00065038 - PubMed: Gillespie 2014, Journal: Gillespie 2014 no family history F yes - - - - - - CCTRCT R: nuclear cataract; L: subcapsular cataract; iris slightly atrophic (more R than L) 1 1 Johan den Dunnen
00065041 - PubMed: Gillespie 2014, Journal: Gillespie 2014 has affected sister M yes - - - - - - CCTRCT R: total cataract, L: central and posterior cataract; Posterior lenticonus, amblyopia and secondary glaucoma 1 2 Johan den Dunnen
00260860 Fam60173 PubMed: Chen 2017 4-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M - - - - - - - CTRCT see paper; … 1 2 Johan den Dunnen
00260861 Fam60218 PubMed: Chen 2017 4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives F;M - - - - - - - CTRCT see paper; … 1 3 Johan den Dunnen
00260862 Fam60237 PubMed: Chen 2017 5-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives F;M - - - - - - - CTRCT see paper; … 1 4 Johan den Dunnen
00260863 Fam60228 PubMed: Chen 2017 5-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives F;M - - - - - - - CTRCT see paper; … 1 4 Johan den Dunnen
00293398 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 43 Mohammed Faruq
00293399 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 38 Mohammed Faruq
00293400 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 17 Mohammed Faruq
00293401 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00293402 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 5 Mohammed Faruq
00385476 15016572 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - - - - retinal disease - 2 1 LOVD
00385543 18010355 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - retinal disease - 2 1 LOVD
00434129 Fam1PatII1 PubMed: Li 2019 2-generation family, affected mother/son M - China - - - - - CTRCT see paper; ..., nuclear cataract, white opacities 3 2 Johan den Dunnen
00434130 Fam2PatII1 PubMed: Li 2019 2-generation family, affected mother/2 daughters F - China - - - - - CTRCT see paper; ..., nuclear/lamellar cataract, blue punctate opacities 3 3 Johan den Dunnen
00434131 Fam3PatIV1 PubMed: Li 2019 4-generation family, 5 affected (5F) F - China - - - - - CTRCT see paper; ..., total cataract 6 5 Johan den Dunnen
00434132 Fam4PatIV1 PubMed: Li 2019 4-generation family, 4 affected (2F, 2M) F - China - - - - - CTRCT see paper; ..., total cataract 5 4 Johan den Dunnen
00434133 Fam5PatIV12 PubMed: Li 2019 6-generation family, 20 affected (9F, 11M) M - China - - - - - CTRCT see paper; ..., nuclear cataract, white opacities 10 20 Johan den Dunnen
00441813 CSA131 PubMed: Javadiyan 2017 2-generation family, affected mother/2 sons F;M - Australia - - - - - CTRCT see paper; ... 1 3 Johan den Dunnen
00441824 FamA PubMed: Ullah 2023 6-generation family, 4 affected (2F, 2M), unaffected heterozygous parents/relatives F;M yes Pakistan - - - - - CTRCT see paper; ... 1 4 Johan den Dunnen
00441825 FamB PubMed: Ullah 2023 4-generation family, 4 affected (4M), unaffected heterozygous parents/relatives M yes Pakistan - - - - - CTRCT see paper; ... 1 4 Johan den Dunnen
00441826 FamC PubMed: Ullah 2023 5-generation family, affected brother/sister, unaffected heterozygous parents/relatives F;M yes Pakistan - - - - - CTRCT see paper; ... 1 2 Johan den Dunnen
00441827 FamD PubMed: Ullah 2023 5-generation family, affected brothers, unaffected heterozygous parents/relatives M yes Pakistan - - - - - CTRCT see paper; ... 1 2 Johan den Dunnen
00441828 PKCC193 PubMed: Iqbal 2020 5-generation family, 5 affected (2F, 3M), unaffected heterozygous parents/relatives F;M yes Pakistan Punjab - - - - CTRCT see paper; ... 1 5 Johan den Dunnen
00441829 PKCC202 PubMed: Iqbal 2020 5-generation family, affected brother/sister, unaffected heterozygous parents/relatives F;M yes Pakistan Punjab - - - - CTRCT see paper; ... 1 2 Johan den Dunnen
00441830 PKCC220 PubMed: Iqbal 2020 4-generation family, 4 affected (3F, M), unaffected heterozygous parents/relatives F;M yes Pakistan Punjab - - - - CTRCT see paper; ... 1 4 Johan den Dunnen
00441831 family 2-generation family, affected sister/brother Abouzeid, ARVO 2012:1723 F;M yes Pakistan - - - - - CTRCT see abstract; cataract, nystagmus 1 2 Johan den Dunnen
00441832 family Journal: Al-Badran2022 6-generation family, 3 affected (F, 2M) F;M yes Egypt - - - - - CTRCT see paper; ... 1 3 Johan den Dunnen
00441833 Fam1 PubMed: Barashkov 2021 2-generation family, 3 affected sibs (2F, M), unaffected heterozygous parents F;M - Russia Siberia-Yakut - - - - CTRCT see paper; ... 1 3 Johan den Dunnen
00441834 controls PubMed: Barashkov 2021 - - - Russia Siberia-Yakut - - - - Healthy/Control - 1 10 Johan den Dunnen
00441835 families PubMed: Barashkov 2021 24/28 families - - Russia Siberia-Yakut - - - - CTRCT - 1 24 Johan den Dunnen
00441836 Fam1 PubMed: Saleem 2022 4-generation family, 2 affected sisters, unaffected heterozygous parents/relatives F yes Pakistan - - - - - CTRCT see paper; ... 1 2 Johan den Dunnen
00441837 Fam2 PubMed: Saleem 2022 4-generation family, 4 affected (3F, M), unaffected heterozygous parents/relatives F;M yes Pakistan - - - - - CTRCT see paper; ... 1 4 Johan den Dunnen
00441838 Fam3 PubMed: Saleem 2022 3-generation family, 3 affected sibs (F, 2M), unaffected heterozygous parents/relatives F;M yes Pakistan - - - - - CTRCT see paper; ... 1 3 Johan den Dunnen
00441839 Fam4 PubMed: Saleem 2022 2-generation family, 3 affected sibs (2F, M), unaffected heterozygous parents/relatives F;M yes Pakistan - - - - - CTRCT see paper; ... 1 3 Johan den Dunnen
00441840 Fam5 PubMed: Saleem 2022 2-generation family, 1 affected, unaffected heterozygous parents/relatives M yes Pakistan - - - - - CTRCT see paper; ... 1 1 Johan den Dunnen
00441841 Fam6 PubMed: Saleem 2022 2-generation family, 2 affected sibs (F, M), unaffected heterozygous parents/relatives F;M yes Pakistan - - - - - CTRCT see paper; ... 1 2 Johan den Dunnen
00441842 families PubMed: Saleem 2022 analysis 25 cataract families - - Pakistan - - - - - CTRCT - 1 21 Johan den Dunnen
00441843 families PubMed: Saleem 2022 analysis 25 cataract families - - Pakistan - - - - - CTRCT - 1 10 Johan den Dunnen
00441844 families PubMed: Saleem 2022 analysis 25 cataract families - - Pakistan - - - - - CTRCT - 1 14 Johan den Dunnen
00441845 families PubMed: Saleem 2022 analysis 25 cataract families - - Pakistan - - - - - CTRCT - 1 9 Johan den Dunnen
00441846 families PubMed: Saleem 2022 analysis 25 cataract families - - Pakistan - - - - - CTRCT - 1 1 Johan den Dunnen
00441847 families PubMed: Saleem 2022 analysis 25 cataract families - - Pakistan - - - - - CTRCT - 1 24 Johan den Dunnen
00441848 families PubMed: Saleem 2022 analysis 25 cataract families - - Pakistan - - - - - CTRCT - 1 16 Johan den Dunnen
00441849 families PubMed: Saleem 2022 analysis 25 cataract families - - Pakistan - - - - - CTRCT - 1 6 Johan den Dunnen
00441850 families PubMed: Saleem 2022 analysis 25 cataract families - - Pakistan - - - - - CTRCT - 1 11 Johan den Dunnen
00441851 families PubMed: Saleem 2022 analysis 25 cataract families - - Pakistan - - - - - CTRCT - 1 15 Johan den Dunnen
00441852 Fam060064PKCC064 PubMed: Chen 2011 4-generation family, 4 affected (2F, 2M), unaffected heterozygous parents/relatives F;M yes Pakistan - - - - - CTRCT see paper; ... 1 4 Johan den Dunnen
00441853 Fam060003/PKCC003 PubMed: Chen 2011 4-generation family, 4 affected (4M), unaffected heterozygous parents/relatives M yes Pakistan - - - - - CTRCT see paper; ... 1 4 Johan den Dunnen
00441854 Fam060012/PKCC012 PubMed: Chen 2011 4-generation family, 3 affected (2F, M), unaffected heterozygous parents/relatives F;M yes Pakistan - - - - - CTRCT see paper; ... 1 3 Johan den Dunnen
00441855 Fam060069/PKCC069 PubMed: Chen 2011 4-generation family, 7 affected (4F, 3M), unaffected heterozygous parents/relatives F;M yes Pakistan - - - - - CTRCT see paper; ... 1 7 Johan den Dunnen
00441856 Fam060054/PKCC054 PubMed: Chen 2011 4-generation family, 3 affected (F, 2M), unaffected heterozygous parents/relatives F;M yes Pakistan - - - - - CTRCT see paper; ... 1 3 Johan den Dunnen
00441857 Fam060041/PKCC041 PubMed: Chen 2011 5-generation family, 4 affected (3F, M), unaffected heterozygous parents/relatives F;M yes Pakistan - - - - - CTRCT see paper; ... 1 4 Johan den Dunnen
00441858 Fam060044/PKCC044 PubMed: Chen 2011 5-generation family, 3 affected (3F), unaffected heterozygous parents/relatives F yes Pakistan - - - - - CTRCT see paper; ... 1 3 Johan den Dunnen
00441859 Fam060091/PKCC091 PubMed: Chen 2011 6-generation family, 4 affected (4M), unaffected heterozygous parents/relatives M yes Pakistan - - - - - CTRCT see paper; ... 1 4 Johan den Dunnen
00441860 Fam060094/PKCC094 PubMed: Chen 2011 5-generation family, 5 affected (4F, M), unaffected heterozygous parents/relatives F;M yes Pakistan - - - - - CTRCT see paper; ... 1 5 Johan den Dunnen
00441861 Fam060014/PKCC014 PubMed: Chen 2011 5-generation family, 3 affected (F, 2M), unaffected heterozygous parents/relatives F;M yes Pakistan - - - - - CTRCT see paper; ... 1 3 Johan den Dunnen
00441862 Fam060058/PKCC058 PubMed: Chen 2011 4-generation family, 2 affected (F, M), unaffected heterozygous parents/relatives F;M yes Pakistan - - - - - CTRCT see paper; ... 1 2 Johan den Dunnen
00441863 Fam060031/PKCC031 PubMed: Chen 2011 5-generation family, 2 affected (2F), unaffected heterozygous parents/relatives F yes Pakistan - - - - - CTRCT see paper; ... 1 2 Johan den Dunnen
00441864 Fam1 PubMed: Pras 2011, PubMed: Chen 2011 - - yes Israel Arab - - - - CTRCT see paper; ... 1 1 Johan den Dunnen
00441865 family PubMed: Aprahamian 2021 4-generation family, 1 affected, unaffected heterozygous parents/relatives F yes Lebanon - - - - - CTRCT see paper; ..., 4m-infantile cataract; bilateral corneal clouding, predominantly left sided gaze 1 1 Johan den Dunnen
00441866 Cata_DGU-11;Fam15 PubMed: Aldahmesh 2012, PubMed: Khan 2015 2-generation family, 2 affected sisters, unaffected heterozygous parents F yes Saudi Arabia - - - - - CTRCT see paper; ... 1 2 Johan den Dunnen
00441867 Fam16 PubMed: Khan 2015 2-generation family, 1 affected, unaffected heterozygous parents F yes Saudi Arabia - - - - - CTRCT see paper; ..., bilateral posterior lenticonus; 4y-significant whitening of the lenses 1 1 Johan den Dunnen
00444346 Pat10 PubMed: Li 2018 2-generation family, 1 affected, unaffected heterozygous parents M - China - - - - - CTRCT cataract 2 1 Johan den Dunnen
00444943 10DG1393 PubMed: Patel 2017 family - - - - - - - - CTRCT congenital cataract; not syndromic 1 2 Johan den Dunnen
00444964 12DG2369 PubMed: Patel 2017 family - - - - - - - - CTRCT congenital cataract; not syndromic 2 2 Johan den Dunnen
00444998 Pat12 PubMed: Reis 2013 - - - United States - - - - - CTRCT congenital cataract 1 1 Johan den Dunnen
00445005 Pat19 PubMed: Reis 2013 - - - United States - - - - - CTRCT congenital cataract, nystagmus; glaucoma, corneal opacity 1 1 Johan den Dunnen
00445061 CC0000257 PubMed: Kessel 2021 family, 2 affected - - Denmark - - - - - CTRCT cataract 1 2 Johan den Dunnen
00446503 Fam109Pat295 PubMed: Liu 2023 - F - China - - - - - CTRCT bilateral congenital cataract 1 1 Johan den Dunnen
Legend   How to query  


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