IMPA1, inositol monophosphatase 1, 3612

N. diseases: 81; N. variants: 0
Disease: Severe intellectual disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.020 GeneticVariation disease BEFREE A homozygous frameshift mutation in IMPA1, coding for the enzyme inositol monophosphatase 1 (IMPase), has recently been associated with severe intellectual disability (ID) in a geographically isolated consanguineous family in Northeastern Brazil (Figueredo et al., 2016). 30616629 2019
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.020 GeneticVariation disease BEFREE A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability. 26416544 2016