Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.510 Biomarker disease BEFREE Over time, pathogenic variants in OFD1 were found to be associated with X-linked intellectual disability, Joubert syndrome type 10 (JBTS10), Simpson-Golabi-Behmel syndrome type 2 (SGBS2), and retinitis pigmentosa. 31373179 2019
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.510 GermlineCausalMutation disease ORPHANET Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23). 22619378 2012
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.510 Biomarker disease GENOMICS_ENGLAND