Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.410 GermlineCausalMutation disease ORPHANET Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability. 28794130 2017
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.410 CausalMutation disease CLINVAR Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability. 28794130 2017
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.410 GeneticVariation disease BEFREE Our findings, based on linkage analysis and exome sequencing studies of two remotely related large consanguineous families, are in line with recent reports of SCAPER variants associated with intellectual disability and retinitis pigmentosa. 30723319 2019