LRRC32, leucine rich repeat containing 32, 2615

N. diseases: 58; N. variants: 3
Disease: USHER SYNDROME, TYPE IB (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.010 GeneticVariation disease BEFREE Screening for mutations in a gene called GARP, which was mapped to the same genetic interval as USH1B, revealed a base substitution in the coding region of the gene, in a homozygous state in all affected individuals. 9386826 1997