UNC119, unc-119 lipid binding chaperone, 9094

N. diseases: 33; N. variants: 1
Disease: Cone-Rod Dystrophy 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.310 GermlineCausalMutation disease ORPHANET Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands. 26992781 2016
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.310 GeneticVariation disease BEFREE A heterozygous truncation mutation in HRG4 was found in a patient with late onset cone-rod dystrophy, and a transgenic (TG) mouse expressing the identical mutant protein developed late onset retinal degeneration, confirming the pathogenic potential of HRG4. 17174953 2007
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.310 GermlineCausalMutation disease ORPHANET HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model. 11006213 2000