NPL, N-acetylneuraminate pyruvate lyase, 80896

N. diseases: 34; N. variants: 1
Disease: Tibial aplasia and ectrodactyly syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551989
Disease: Tibial aplasia and ectrodactyly syndrome
Tibial aplasia and ectrodactyly syndrome 		0.010 GeneticVariation disease BEFREE The study identified two novel SHFLD susceptibility loci at 1q42.2-q43 (nonparametric linkage [NPL] 9.8, P=.000065) and 6q14.1 (NPL 7.12, P=.000897). 17160898 2007