×
Entrez Id:
8772
Gene Symbol:
FADD
FADD
0.300
Biomarker
disease
GENOMICS_ENGLAND
A new case of Fas-associated death domain protein deficiency and update on treatment outcomes.
25794656
2015
×
Entrez Id:
1024
Gene Symbol:
CDK8
CDK8
0.300
Biomarker
disease
GENOMICS_ENGLAND
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
30905399
2019
×
Entrez Id:
7547
Gene Symbol:
ZIC3
ZIC3
0.130
Biomarker
disease
HPO
×
Entrez Id:
7547
Gene Symbol:
ZIC3
ZIC3
0.130
Biomarker
disease
BEFREE
The Zic3 mouse model provides a novel tool to dissect the mechanistic underpinnings of conduction system patterning and dysfunction and its relationship to cardiovascular malformations , making it a promising model to improve understanding and risk assessment in the clinical arena.
20581739
2010
×
Entrez Id:
7547
Gene Symbol:
ZIC3
ZIC3
0.130
GeneticVariation
disease
BEFREE
In humans, loss-of-function mutations in ZIC3 cause isolated cardiovascular malformations and X-linked heterotaxy, a disorder with abnormal left-right asymmetry of organs.
23303524
2013
×
Entrez Id:
7547
Gene Symbol:
ZIC3
ZIC3
0.130
GeneticVariation
disease
BEFREE
Mutations in Zinc Finger Protein of the Cerebellum 3 (ZIC3 ) cause X-linked heterotaxy and isolated cardiovascular malformations .
23999067
2013
×
Entrez Id:
2626
Gene Symbol:
GATA4
GATA4
0.110
Biomarker
disease
HPO
×
Entrez Id:
2627
Gene Symbol:
GATA6
GATA6
0.110
Biomarker
disease
HPO
×
Entrez Id:
2146
Gene Symbol:
EZH2
EZH2
0.110
GeneticVariation
disease
BEFREE
We identified a wide spectrum of cardiovascular malformations in the Ezh2 mutant mice, which collectively led to perinatal death.
22312437
2012
×
Entrez Id:
2316
Gene Symbol:
FLNA
FLNA
0.110
GeneticVariation
disease
BEFREE
Human Filamin A gene (FLNA) mutations are associated with classical X-linked bilateral periventricular nodular heterotopia (PNH), featuring contiguous heterotopic nodules, mega cisterna magna, cardiovascular malformations and epilepsy.
16684786
2006
×
Entrez Id:
23414
Gene Symbol:
ZFPM2
ZFPM2
0.110
Biomarker
disease
BEFREE
Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformations .
24769157
2015
×
Entrez Id:
2626
Gene Symbol:
GATA4
GATA4
0.110
Biomarker
disease
BEFREE
Furthermore, the mutation abolished the synergistic activation between HAND1 and GATA4 , another crucial cardiac transcription factors that has been associated with various congenital cardiovascular malformations and DCM.
26581070
2016
×
Entrez Id:
2146
Gene Symbol:
EZH2
EZH2
0.110
Biomarker
disease
HPO
×
Entrez Id:
23414
Gene Symbol:
ZFPM2
ZFPM2
0.110
Biomarker
disease
HPO
×
Entrez Id:
2627
Gene Symbol:
GATA6
GATA6
0.110
GeneticVariation
disease
BEFREE
Verified segmental deletion or duplications were not directly associated with cardiovascular malformations except in DAAM1 and GATA6 .
23678296
2013
×
Entrez Id:
2316
Gene Symbol:
FLNA
FLNA
0.110
Biomarker
disease
HPO
×
Entrez Id:
6662
Gene Symbol:
SOX9
SOX9
0.100
Biomarker
disease
HPO
×
Entrez Id:
54756
Gene Symbol:
IL17RD
IL17RD
0.100
Biomarker
disease
HPO
×
Entrez Id:
23512
Gene Symbol:
SUZ12
SUZ12
0.100
Biomarker
disease
HPO
×
Entrez Id:
389549
Gene Symbol:
FEZF1
FEZF1
0.100
Biomarker
disease
HPO
×
Entrez Id:
219844
Gene Symbol:
HYLS1
HYLS1
0.100
Biomarker
disease
HPO
×
Entrez Id:
54880
Gene Symbol:
BCOR
BCOR
0.100
Biomarker
disease
HPO
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.100
Biomarker
disease
HPO
×
Entrez Id:
2253
Gene Symbol:
FGF8
FGF8
0.100
Biomarker
disease
HPO
×
Entrez Id:
5830
Gene Symbol:
PEX5
PEX5
0.100
Biomarker
disease
HPO