LMNB1, lamin B1, 4001

N. diseases: 128; N. variants: 1
Disease: Anencephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002902
Disease: Anencephaly
Anencephaly 		0.010 Biomarker disease BEFREE Genetic analysis demonstrated that the variant also affects neural tube closure: the frequency of spina bifida and anencephaly was reduced three-fold when wild-type lamin B1 was bred into the curly tail strain background. 23166514 2012