Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310641
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 		0.700 GeneticVariation disease UNIPROT ELP2 is a novel gene implicated in neurodevelopmental disabilities. 25847581 2015
CUI: C4310641
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 		0.700 Biomarker disease GENOMICS_ENGLAND ELP2 is a novel gene implicated in neurodevelopmental disabilities. 25847581 2015
CUI: C4310641
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 		0.700 Biomarker disease CTD_human
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker group CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		0.300 Biomarker phenotype CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011