Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.200 Biomarker MGD NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype. 29674119

2018

Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.200 Biomarker MGD Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease. 27207593

2016