Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.420 GermlineCausalMutation ORPHANET WES in three Dutch siblings with RP revealed a complex HGSNAT variant, c.[398G>C; 1843G>A] on one allele, and c.1843G>A on the other allele. 25859010

2015