Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553699115
rs1553699115
SETD2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Enteropathy-associated T cell lymphoma subtypes are characterized by loss of function of SETD2. 28424246

2017
dbSNP: rs1553699115
rs1553699115
SETD2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort. 27317772

2016
dbSNP: rs1553699115
rs1553699115
SETD2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy. 26084711

2015
dbSNP: rs1553699115
rs1553699115
SETD2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Whole exome sequencing in females with autism implicates novel and candidate genes. 25574603

2015
dbSNP: rs1553699115
rs1553699115
SETD2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR The usefulness of whole-exome sequencing in routine clinical practice. 24901346

2014
dbSNP: rs1553699115
rs1553699115
SETD2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Mutations in SETD2 cause a novel overgrowth condition. 24852293

2014
dbSNP: rs1553699115
rs1553699115
SETD2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
dbSNP: rs1553699115
rs1553699115
SETD2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955

2012
dbSNP: rs1553699115
rs1553699115
SETD2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 22495309

2012