SACS, sacsin molecular chaperone, 26278

N. diseases: 106; N. variants: 252
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 Biomarker group GENOMICS_ENGLAND Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities. 27871429 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 GeneticVariation group BEFREE Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities. 27871429 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker group HPO