Disease: Dysmorphic features ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553629086
rs1553629086
Entrez Id: 57520
Gene Symbol: HECW2
HECW2
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. 27389779 2017
dbSNP: rs1553629086
rs1553629086
Entrez Id: 57520
Gene Symbol: HECW2
HECW2
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Mutations in HECW2 are associated with intellectual disability and epilepsy. 27334371 2016
dbSNP: rs1553629086
rs1553629086
Entrez Id: 57520
Gene Symbol: HECW2
HECW2
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Excess of rare, inherited truncating mutations in autism. 25961944 2015
dbSNP: rs1553629086
rs1553629086
Entrez Id: 57520
Gene Symbol: HECW2
HECW2
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR NEDL2 is an essential regulator of enteric neural development and GDNF/Ret signaling. 25555806 2015
dbSNP: rs1553629086
rs1553629086
Entrez Id: 57520
Gene Symbol: HECW2
HECW2
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015
dbSNP: rs1553629086
rs1553629086
Entrez Id: 57520
Gene Symbol: HECW2
HECW2
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR The contribution of de novo coding mutations to autism spectrum disorder. 25363768 2014
dbSNP: rs1553629086
rs1553629086
Entrez Id: 57520
Gene Symbol: HECW2
HECW2
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 25262651 2014
dbSNP: rs1553629086
rs1553629086
Entrez Id: 57520
Gene Symbol: HECW2
HECW2
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR The HECT type ubiquitin ligase NEDL2 is degraded by anaphase-promoting complex/cyclosome (APC/C)-Cdh1, and its tight regulation maintains the metaphase to anaphase transition. 24163370 2013
dbSNP: rs1553629086
rs1553629086
Entrez Id: 57520
Gene Symbol: HECW2
HECW2
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Evolution and functional impact of rare coding variation from deep sequencing of human exomes. 22604720 2012
dbSNP: rs1553629086
rs1553629086
Entrez Id: 57520
Gene Symbol: HECW2
HECW2
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients. 16179223 2005