Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 60509
Gene Symbol: AGBL5
AGBL5
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.330 GermlineCausalMutation ORPHANET In one family, exome analyses of two affected individuals revealed a homozygous missense mutation (c.883G>A; p.Asp295Asn) in the AGBL5 (Agbl5; CCP5) gene, previously not reported to be associated with RP. 26720455

2015