Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3419
Gene Symbol: IDH3A
IDH3A
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.510 GeneticVariation ORPHANET Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma. 28412069

2017