Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57709
Gene Symbol: SLC7A14
SLC7A14
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.320 GermlineCausalMutation ORPHANET Using exome sequencing and direct screening of 248 unrelated patients with arRP, we find that mutations in the SLC7A14 gene account for 2% of cases of arRP. 24670872

2014