NIPBL, NIPBL cohesin loading factor, 25836

N. diseases: 225; N. variants: 270
Disease: SPINOCEREBELLAR ATAXIA 44 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4521563
Disease: SPINOCEREBELLAR ATAXIA 44
SPINOCEREBELLAR ATAXIA 44 		0.010 GeneticVariation disease BEFREE These included genes carrying novel deleterious variants, such as the GRM1 gene implicated in spinocerebellar ataxia 44 and the NIPBL gene implicated in Cornelia de Lange syndrome. 30367527 2019