Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008

2017
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 CausalMutation CLINVAR Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204

2015
Entrez Id: 65109
Gene Symbol: UPF3B
UPF3B
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 CausalMutation CLINVAR Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay. 22609145

2012
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 CausalMutation CLINVAR Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. 22426309

2012
Entrez Id: 65109
Gene Symbol: UPF3B
UPF3B
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 CausalMutation CLINVAR Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism. 19238151

2010
Entrez Id: 65109
Gene Symbol: UPF3B
UPF3B
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 CausalMutation CLINVAR Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. 17704778

2007
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 CausalMutation CLINVAR

Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 CausalMutation CLINVAR

Entrez Id: 3778
Gene Symbol: KCNMA1
KCNMA1
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 CausalMutation CLINVAR

Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 CausalMutation CLINVAR

Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 GeneticVariation CLINVAR

Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 CausalMutation CLINVAR

Entrez Id: 101929328
Gene Symbol: KCNMA1-AS1
KCNMA1-AS1
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 CausalMutation CLINVAR

Entrez Id: 23036
Gene Symbol: ZNF292
ZNF292
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 GeneticVariation CLINVAR

Entrez Id: 51322
Gene Symbol: WAC
WAC
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 CausalMutation CLINVAR

Entrez Id: 2318
Gene Symbol: FLNC
FLNC
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 CausalMutation CLINVAR

Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 GeneticVariation CLINVAR

Entrez Id: 84231
Gene Symbol: TRAF7
TRAF7
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 CausalMutation CLINVAR

Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 CausalMutation CLINVAR

Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 CausalMutation CLINVAR

Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 CausalMutation CLINVAR

Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 GeneticVariation CLINVAR

Entrez Id: 79228
Gene Symbol: THOC6
THOC6
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 CausalMutation CLINVAR

Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 CausalMutation CLINVAR