Disease: Pseudocoloboma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033793
Disease: Pseudocoloboma
Pseudocoloboma 		0.320 GeneticVariation phenotype BEFREE To date, only three papers have reported mutations in IDH3A, in families with early-onset retinal degeneration with or without the presence of macular pseudocoloboma. 31012789 2019
CUI: C0033793
Disease: Pseudocoloboma
Pseudocoloboma 		0.320 Biomarker phenotype GENOMICS_ENGLAND Mouse Idh3a mutations cause retinal degeneration and reduced mitochondrial function. 30478029 2018
CUI: C0033793
Disease: Pseudocoloboma
Pseudocoloboma 		0.320 GeneticVariation phenotype BEFREE IDH3A variants were identified as a novel cause of typical arRP in some individuals associated with macular pseudocoloboma. 28412069 2017