ARID1A, AT-rich interaction domain 1A, 8289

N. diseases: 341; N. variants: 22
Disease: Microcephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 Biomarker disease BEFREE This work is the first step in clarifying the pathophysiological mechanism that links changes in the gene dosage of ARID1A with intellectual disability and microcephaly.Genet Med advance online publication 01 December 2016. 27906199 2017
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 Biomarker disease HPO