×
Entrez Id:
2632
Gene Symbol:
GBE1
GBE1
Early severe fetal akinesia sequence
0.100
GeneticVariation
CLINVAR
The genomic and clinical landscape of fetal akinesia.
31680123
2020
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Early severe fetal akinesia sequence
0.100
CausalMutation
CLINVAR
The genomic and clinical landscape of fetal akinesia.
31680123
2020
×
Entrez Id:
4920
Gene Symbol:
ROR2
ROR2
Early severe fetal akinesia sequence
0.100
GeneticVariation
CLINVAR
The genomic and clinical landscape of fetal akinesia.
31680123
2020
×
Entrez Id:
6261
Gene Symbol:
RYR1
RYR1
Early severe fetal akinesia sequence
0.100
GeneticVariation
CLINVAR
The genomic and clinical landscape of fetal akinesia.
31680123
2020
×
Entrez Id:
259266
Gene Symbol:
ASPM
ASPM
Early severe fetal akinesia sequence
0.100
GeneticVariation
CLINVAR
The genomic and clinical landscape of fetal akinesia.
31680123
2020
×
Entrez Id:
63895
Gene Symbol:
PIEZO2
PIEZO2
Early severe fetal akinesia sequence
0.100
CausalMutation
CLINVAR
The genomic and clinical landscape of fetal akinesia.
31680123
2020
×
Entrez Id:
342035
Gene Symbol:
GLDN
GLDN
Early severe fetal akinesia sequence
0.100
GeneticVariation
CLINVAR
The genomic and clinical landscape of fetal akinesia.
31680123
2020
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Early severe fetal akinesia sequence
0.100
GeneticVariation
CLINVAR
The genomic and clinical landscape of fetal akinesia.
31680123
2020
×
Entrez Id:
347688
Gene Symbol:
TUBB8
TUBB8
Oocyte arrest at metaphase I
0.100
GeneticVariation
CLINVAR
Oocyte maturation arrest produced by
32063091
2020
×
Entrez Id:
4851
Gene Symbol:
NOTCH1
NOTCH1
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Evidence of Aortopathy in Mice with Haploinsufficiency of Notch1 in Nos3 -Null Background.
25914885
2019
×
Entrez Id:
84294
Gene Symbol:
UTP23
UTP23
Blepharoptosis
0.100
GeneticVariation
CLINVAR
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
30125677
2019
×
Entrez Id:
5885
Gene Symbol:
RAD21
RAD21
Blepharoptosis
0.100
GeneticVariation
CLINVAR
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
30125677
2019
×
Entrez Id:
100506866
Gene Symbol:
TTN-AS1
TTN-AS1
Cardiomyopathy, Dilated
0.100
GeneticVariation
CLINVAR
Neuromuscular transmission defects in myopathies: Rare but worth searching for.
30536954
2019
×
Entrez Id:
9024
Gene Symbol:
BRSK2
BRSK2
Cerebellar Ataxia
0.100
CausalMutation
CLINVAR
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.
30879638
2019
×
Entrez Id:
7355
Gene Symbol:
SLC35A2
SLC35A2
Constipation
0.100
GeneticVariation
CLINVAR
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
30817854
2019
×
Entrez Id:
6659
Gene Symbol:
SOX4
SOX4
Constipation
0.100
GeneticVariation
CLINVAR
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.
30661772
2019
×
Entrez Id:
3931
Gene Symbol:
LCAT
LCAT
Corneal Opacity
0.100
CausalMutation
CLINVAR
Identification and functional analysis of missense mutations in the lecithin cholesterol acyltransferase gene in a Chilean patient with hypoalphalipoproteinemia.
31164121
2019
×
Entrez Id:
9024
Gene Symbol:
BRSK2
BRSK2
Cryptorchidism
0.100
GeneticVariation
CLINVAR
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.
30879638
2019
×
Entrez Id:
6659
Gene Symbol:
SOX4
SOX4
Deglutition Disorders
0.100
GeneticVariation
CLINVAR
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.
30661772
2019
×
Entrez Id:
5290
Gene Symbol:
PIK3CA
PIK3CA
Diaphragmatic Eventration
0.100
CausalMutation
CLINVAR
Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation.
31568861
2019
×
Entrez Id:
51294
Gene Symbol:
PCDH12
PCDH12
Dystonia
0.100
GeneticVariation
CLINVAR
Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.
30459466
2019
×
Entrez Id:
7355
Gene Symbol:
SLC35A2
SLC35A2
Esotropia
0.100
GeneticVariation
CLINVAR
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
30817854
2019
×
Entrez Id:
285441
Gene Symbol:
F11-AS1
F11-AS1
Hereditary Factor XI Deficiency
0.100
CausalMutation
CLINVAR
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
31064749
2019
×
Entrez Id:
285441
Gene Symbol:
F11-AS1
F11-AS1
Hereditary Factor XI Deficiency
0.100
GeneticVariation
CLINVAR
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
31064749
2019
×
Entrez Id:
6659
Gene Symbol:
SOX4
SOX4
Ventricular Septal Defects
0.100
GeneticVariation
CLINVAR
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.
30661772
2019