ARID1B, AT-rich interaction domain 1B, 57492

N. diseases: 270; N. variants: 90
Disease: Hypertrichosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		0.110 Biomarker disease BEFREE This study broadens the spectrum of ARID1B associated phenotypes by describing a distinctive phenotype including plantar fat pads but lacking the hypertrichosis or fifth nail hypoplasia associated with Coffin-Siris syndrome. 24674232 2014
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		0.110 GeneticVariation disease CLINVAR
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		0.110 CausalMutation disease CLINVAR