Disease: Developmental Disabilities ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		0.320 GeneticVariation group BEFREE Mutations of SETD1A have been implicated in schizophrenia and developmental disorders, so we examined the role of the four mutations (R913C, Q269R, G1369R, and R1392H) in neural development. 31197650 2019
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		0.320 Biomarker group GENOMICS_ENGLAND We further identified four SETD1A LoF carriers among 4,281 children with severe developmental disorders and two more carriers in an independent sample of 5,720 Finnish exomes, both with notable neuropsychiatric phenotypes. 26974950 2016
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		0.320 GeneticVariation group BEFREE Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders. 26974950 2016