All individuals with variants in gene GCNT2

31 entries on 1 page. Showing entries 1 - 31.
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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     
00003037 - PubMed: Yu 2003 - ? - - Caucasian - - - - BG-i blood group i 1 1 Johan den Dunnen
00003038 - PubMed: Yu 2003 - ? - - Caucasian - - - - BG-i blood group i 1 1 Johan den Dunnen
00003039 - PubMed: Yu 2003 - ? - - Caucasian - - - - BG-i blood group i 1 1 Johan den Dunnen
00003040 - PubMed: Yu 2003 - ? - - Caucasian - - - - BG-i blood group i 1 1 Johan den Dunnen
00003041 - PubMed: Yu 2003 - ? - - Caucasian - - - - BG-i blood group i 1 1 Johan den Dunnen
00003042 - PubMed: Yu 2003 - ? - - Caucasian - - - - BG-i blood group i 2 1 Johan den Dunnen
00003043 - PubMed: Yu 2001 2-generation family, 2 affecteds F no Taiwan - - - - - BG-i, CTRCT-13 blood group i, cataract, congenital 2 1 Johan den Dunnen
00003044 - PubMed: Yu 2001 2-generation family, 2 affecteds F no Taiwan - - - - - BG-i, CTRCT-13 blood group i, cataract, congenital 2 1 Johan den Dunnen
00003045 - PubMed: Yu 2001 3-generation family, 2 affecteds F no Taiwan - - - - - BG-i, CTRCT-13 blood group i, cataract, congenital 1 1 Johan den Dunnen
00003046 - PubMed: Yu 2001 3-generation family, 2 affecteds M no Taiwan - - - - - BG-i, CTRCT-13 blood group i, cataract, congenital 1 1 Johan den Dunnen
00003047 - PubMed: Yu 2001 3-generation family, 1 affected F yes Taiwan - - - - - BG-i, CTRCT-13 blood group i, cataract, congenital 1 1 Johan den Dunnen
00003048 - PubMed: Yu 2003 - ? - - Caucasian - - - - Healthy/Control - 1 51 Johan den Dunnen
00003049 - PubMed: Yu 2001 3-generation family, 5 unaffected carriers ? no Taiwan - - - - - Healthy/Control - 1 4 Johan den Dunnen
00003050 - PubMed: Yu 2001 1-generation family, unaffected carrier (father) M no Taiwan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00003051 - PubMed: Yu 2001 2-generation family, 2 unaffected carriers (mother, sister) F no Taiwan - - - - - Healthy/Control - 1 2 Johan den Dunnen
00003052 - PubMed: Yu 2001 3-generation family, unaffected carrier parents - yes Taiwan - - - - - Healthy/Control - 1 2 Johan den Dunnen
00003054 - PubMed: Inaba 2003 3-generation family, 3 affecteds, unaffected carrier parents and children - no Japan - - 0 - - BG-i, CTRCT-13 - 3 3 Johan den Dunnen
00003055 - PubMed: Inaba 2003 controls - - Japan - - 0 - - - - 1 4 Johan den Dunnen
00003056 - PubMed: Lin 2006 2-generation family, affected parent - - Taiwan - - 0 - - BG-i no congenital cataract 1 1 Johan den Dunnen
00003057 - PubMed: Lin 2006 2-generation family, unaffected carrier daugther F - Taiwan - - 0 - - - - 1 1 Johan den Dunnen
00003073 - PubMed: Pras 2004 6-generation family, 5 affecteds (4F, 1M) - yes Israel Arab - 0 - - BG-i, CTRCT-13 <1m bilateral leukocoria (HPO:0000555) 1 5 Johan den Dunnen
00003074 - - 6-generation family, 4 unaffected carrier parents - yes Israel Arab - 0 - - Healthy/Control - 1 4 Johan den Dunnen
00003075 - PubMed: Pras 2004 5-generation family, 1 affected M yes Israel - - 0 - - BG-i, CTRCT-13 - 1 1 Johan den Dunnen
00003076 - - 5-generation family, unaffected carrier parents - - Israel Arab - 0 - - Healthy/Control - 1 2 Johan den Dunnen
00003079 - - 3-generation family, 4 affecteds (3F, 1M) - yes Israel Arab - 0 - - BG-i, CTRCT-13 - 1 4 Johan den Dunnen
00003080 - - 3-generation family, 4 unaffected carrier parents - yes Israel - - 0 - - Healthy/Control - 1 4 Johan den Dunnen
00003081 - - 5-generaion family, 3 affecteds (2F, 1M) - yes Israel Arab - 0 - - BG-i, CTRCT-13 - 1 3 Johan den Dunnen
00003082 - - 5-generation family, 6 unaffected carriers - yes Israel Arab - 0 - - Healthy/Control - 1 6 Johan den Dunnen
00088062 - - - - - Australia - - 0 - - CTRCT Nuclear, microphthalmia 1 1 Ivan Prokudin
00293945 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 57 Mohammed Faruq
00314705 - PubMed: Slavotinek 2015 - F - United States Hispanic - 0 - - ? no anophthalmia, no microphthalmia, congenital cataracts, unilateral microtia 1 1 Johan den Dunnen
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