Source: ANIMAL_MODELS

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
CUI: C1837873
Disease: LEBER CONGENITAL AMAUROSIS 9 (disorder)
LEBER CONGENITAL AMAUROSIS 9 (disorder) 		0.940 Biomarker MGD One of the most common alleles reported so far in NMNAT1 is the c.769G > A (E257K) missense mutation, which occurs in 70% of all LCA9 cases. 29674119

2018
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
CUI: C1837873
Disease: LEBER CONGENITAL AMAUROSIS 9 (disorder)
LEBER CONGENITAL AMAUROSIS 9 (disorder) 		0.940 Biomarker MGD Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease. 27207593

2016