POU3F3, POU class 3 homeobox 3, 5455

N. diseases: 34; N. variants: 1
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225275
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 		0.300 Biomarker disease GENOMICS_ENGLAND De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder. 31303265 2019