Disease: Dysmorphic features ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555488653
rs1555488653
Entrez Id: 9739
Gene Symbol: SETD1A
SETD1A
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
dbSNP: rs1555488653
rs1555488653
Entrez Id: 9739
Gene Symbol: SETD1A
SETD1A
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders. 26974950 2016
dbSNP: rs1555488653
rs1555488653
Entrez Id: 9739
Gene Symbol: SETD1A
SETD1A
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Loss-of-function variants in schizophrenia risk and SETD1A as a candidate susceptibility gene. 24853937 2014
dbSNP: rs1555488653
rs1555488653
Entrez Id: 9739
Gene Symbol: SETD1A
SETD1A
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR The H3K4 methyltransferase Setd1a is first required at the epiblast stage, whereas Setd1b becomes essential after gastrulation. 24550110 2014
dbSNP: rs1555488653
rs1555488653
Entrez Id: 9739
Gene Symbol: SETD1A
SETD1A
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Schizophrenia. 19700006 2009
dbSNP: rs1555488653
rs1555488653
Entrez Id: 9739
Gene Symbol: SETD1A
SETD1A
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Protein interactions within the Set1 complex and their roles in the regulation of histone 3 lysine 4 methylation. 16921172 2006