Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.510 GermlineCausalMutation 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