Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4479481
Disease: RETINITIS PIGMENTOSA 78
RETINITIS PIGMENTOSA 78
0.700 Biomarker disease GENOMICS_ENGLAND Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration. 28132693 2017
CUI: C4479481
Disease: RETINITIS PIGMENTOSA 78
RETINITIS PIGMENTOSA 78
0.700 GeneticVariation disease UNIPROT Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration. 28132693 2017
CUI: C4479481
Disease: RETINITIS PIGMENTOSA 78
RETINITIS PIGMENTOSA 78
0.700 Biomarker disease CTD_human
CUI: C4479481
Disease: RETINITIS PIGMENTOSA 78
RETINITIS PIGMENTOSA 78
0.700 CausalMutation disease CLINVAR