Disease: Familial Exudative Vitreoretinopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		0.410 Biomarker disease BEFREE Haploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy. 26908610 2016
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		0.410 Biomarker disease GENOMICS_ENGLAND Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination. 27486781 2016
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		0.410 GeneticVariation disease CLINVAR