Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
0.600 Biomarker disease GENOMICS_ENGLAND Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 28041643 2017
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
0.600 GeneticVariation disease UNIPROT Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability. 28794130 2017
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
0.600 CausalMutation disease CLINVAR
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
0.600 GeneticVariation disease CLINVAR