Disease: CATARACT, CRYSTALLINE ACULEIFORM ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CATARACT, CRYSTALLINE ACULEIFORM
CUI: C1861832
Disease: CATARACT, CRYSTALLINE ACULEIFORM
0.700 CausalMutation CLINVAR Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families. 28450710 2017
CATARACT, CRYSTALLINE ACULEIFORM
CUI: C1861832
Disease: CATARACT, CRYSTALLINE ACULEIFORM
0.700 CausalMutation CLINVAR The cataract-associated R14C mutant of human gamma D-crystallin shows a variety of intermolecular disulfide cross-links: a Raman spectroscopic study. 19382745 2009
CATARACT, CRYSTALLINE ACULEIFORM
CUI: C1861832
Disease: CATARACT, CRYSTALLINE ACULEIFORM
0.700 CausalMutation CLINVAR A novel gammaD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract. 19668596 2009
CATARACT, CRYSTALLINE ACULEIFORM
CUI: C1861832
Disease: CATARACT, CRYSTALLINE ACULEIFORM
0.700 CausalMutation CLINVAR A missense mutation in the gammaD-crystallin gene CRYGD associated with autosomal dominant congenital cataract in a Chinese family. 16446699 2006
CATARACT, CRYSTALLINE ACULEIFORM
CUI: C1861832
Disease: CATARACT, CRYSTALLINE ACULEIFORM
0.700 CausalMutation CLINVAR Molecular basis of a progressive juvenile-onset hereditary cataract. 10688888 2000