Disease: RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310680
Disease: RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES 		0.700 Biomarker disease GENOMICS_ENGLAND Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination. 27486781 2016
CUI: C4310680
Disease: RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES 		0.700 GeneticVariation disease UNIPROT Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination. 27486781 2016
CUI: C4310680
Disease: RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES 		0.700 Biomarker disease GENOMICS_ENGLAND Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination. 27486781 2016
CUI: C4310680
Disease: RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES 		0.700 Biomarker disease CTD_human
CUI: C4310680
Disease: RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES 		0.700 CausalMutation disease CLINVAR