AMMECR1, AMMECR nuclear protein 1, 9949

N. diseases: 64; N. variants: 4
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 GeneticVariation group BEFREE Recently, using exome sequencing, missense pathogenic variants in AMMECR1 have been associated with intellectual disability, midface hypoplasia, and elliptocytosis. 30737907 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 Biomarker group HPO