VPS13B, vacuolar protein sorting 13 homolog B, 157680

N. diseases: 158; N. variants: 309
Disease: Chorioretinal dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857627
Disease: Chorioretinal dystrophy
Chorioretinal dystrophy 		0.110 Biomarker disease BEFREE From this study and a review of more than 160 genotyped cases from the literature, it is concluded that, given the large size of the gene, VPS13B screening is not indicated in the absence of chorioretinal dystrophy or neutropenia in patients aged over 5 years. 20656880 2010
CUI: C1857627
Disease: Chorioretinal dystrophy
Chorioretinal dystrophy 		0.110 Biomarker disease HPO