Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CATARACT 30
CUI: C3805411
Disease: CATARACT 30
0.800 GeneticVariation UNIPROT Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families. 28450710 2017
CATARACT 30
CUI: C3805411
Disease: CATARACT 30
0.800 GeneticVariation UNIPROT Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549 2016
CATARACT 30
CUI: C3805411
Disease: CATARACT 30
0.800 GeneticVariation UNIPROT Dominant cataract formation in association with a vimentin assembly disrupting mutation. 19126778 2009
CATARACT 30
CUI: C3805411
Disease: CATARACT 30
0.800 CausalMutation CLINVAR