WFS1, wolframin ER transmembrane glycoprotein, 7466

N. diseases: 185; N. variants: 80
Disease: CATARACT 41 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3805412
Disease: CATARACT 41
CATARACT 41 		0.700 Biomarker disease GENOMICS_ENGLAND Clinical and Molecular Genetic Analysis in Three Children with Wolfram Syndrome: A Novel WFS1 Mutation (c.2534T>A). 27468121 2017
CUI: C3805412
Disease: CATARACT 41
CATARACT 41 		0.700 Biomarker disease GENOMICS_ENGLAND A three-step programmed method for the identification of causative gene mutations of maturity onset diabetes of the young (MODY). 27185633 2016
CUI: C3805412
Disease: CATARACT 41
CATARACT 41 		0.700 GeneticVariation disease UNIPROT Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans. 23531866 2013
CUI: C3805412
Disease: CATARACT 41
CATARACT 41 		0.700 Biomarker disease CTD_human
CUI: C3805412
Disease: CATARACT 41
CATARACT 41 		0.700 CausalMutation disease CLINVAR
CUI: C3805412
Disease: CATARACT 41
CATARACT 41 		0.700 Biomarker disease GENOMICS_ENGLAND