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 		0.410 GeneticVariation group BEFREE Mutations in the ATP8A2 gene have been reported to cause severe autosomal recessive neurological diseases in humans characterized by intellectual disability, hypotonia, chorea, and hyperkinetic movement disorders with or without optic and cerebellar atrophy. 31397519 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker group GENOMICS_ENGLAND CAMRQ4 is a rare genetic disorder characterized by mental retardation, ataxia or an inability to walk, dysarthria and, in some patients, quadrupedal gait. 29531481 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker group HPO