Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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
CUI: C4227845
Disease: Oocyte arrest at metaphase I
Oocyte arrest at metaphase I
0.100 GeneticVariation CLINVAR Oocyte maturation arrest produced by 32063091

2020

Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0000772
Disease: Multiple congenital anomalies
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
CUI: C0005745
Disease: Blepharoptosis
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
CUI: C0005745
Disease: Blepharoptosis
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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
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
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.100 CausalMutation CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638

2019

Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C0009806
Disease: Constipation
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
CUI: C0009806
Disease: Constipation
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
CUI: C0010038
Disease: Corneal Opacity
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
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
0.100 GeneticVariation CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638

2019

Entrez Id: 6659
Gene Symbol: SOX4
SOX4
CUI: C0011168
Disease: Deglutition Disorders
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
CUI: C0011981
Disease: Diaphragmatic Eventration
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
CUI: C0013421
Disease: Dystonia
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
CUI: C0014877
Disease: Esotropia
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
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
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
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
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
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
0.100 GeneticVariation CLINVAR De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. 30661772

2019