NPAS2, neuronal PAS domain protein 2, 4862

N. diseases: 82; N. variants: 19
Disease: Azoospermia, Nonobstructive ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1847540
Disease: Azoospermia, Nonobstructive
Azoospermia, Nonobstructive 		0.010 GeneticVariation disease BEFREE With the use of WES we identified a novel homozygous mutation in NPAS2 as a likely disease-causing variant in a Turkish family diagnosed with NOA. 25956372 2015