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: |
7358 |
Gene Symbol: |
UGDH |
UGDH
|
Epileptic encephalopathy
|
0.100 |
GeneticVariation |
CLINVAR |
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
|
32001716 |
2020 |
Entrez Id: |
3845 |
Gene Symbol: |
KRAS |
KRAS
|
Arteriovenous Malformations, Cerebral
|
0.430 |
CausalMutation |
CLINVAR |
Somatic mutations in intracranial arteriovenous malformations.
|
31891627 |
2019 |
Entrez Id: |
673 |
Gene Symbol: |
BRAF |
BRAF
|
Arteriovenous Malformations, Cerebral
|
0.100 |
CausalMutation |
CLINVAR |
Somatic mutations in intracranial arteriovenous malformations.
|
31891627 |
2019 |
Entrez Id: |
2200 |
Gene Symbol: |
FBN1 |
FBN1
|
Marfan Syndrome
|
1.000 |
GeneticVariation |
CLINVAR |
Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.
|
31730815 |
2020 |
Entrez Id: |
2200 |
Gene Symbol: |
FBN1 |
FBN1
|
Marfan Syndrome
|
1.000 |
CausalMutation |
CLINVAR |
Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.
|
31730815 |
2020 |
Entrez Id: |
4607 |
Gene Symbol: |
MYBPC3 |
MYBPC3
|
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation |
CLINVAR |
Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy.
|
31730716 |
2019 |
Entrez Id: |
3949 |
Gene Symbol: |
LDLR |
LDLR
|
Hypercholesterolemia, Familial
|
0.900 |
CausalMutation |
CLINVAR |
Functional analysis of six uncharacterised mutations in LDLR gene.
|
31689621 |
2019 |
Entrez Id: |
6261 |
Gene Symbol: |
RYR1 |
RYR1
|
Arthrogryposis
|
0.130 |
CausalMutation |
CLINVAR |
The genomic and clinical landscape of fetal akinesia.
|
31680123 |
2020 |
Entrez Id: |
6261 |
Gene Symbol: |
RYR1 |
RYR1
|
Arthrogryposis
|
0.130 |
GeneticVariation |
CLINVAR |
The genomic and clinical landscape of fetal akinesia.
|
31680123 |
2020 |
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
Arthrogryposis
|
0.130 |
CausalMutation |
CLINVAR |
The genomic and clinical landscape of fetal akinesia.
|
31680123 |
2020 |
Entrez Id: |
2632 |
Gene Symbol: |
GBE1 |
GBE1
|
Arthrogryposis
|
0.100 |
GeneticVariation |
CLINVAR |
The genomic and clinical landscape of fetal akinesia.
|
31680123 |
2020 |
Entrez Id: |
26040 |
Gene Symbol: |
SETBP1 |
SETBP1
|
Arthrogryposis
|
0.100 |
CausalMutation |
CLINVAR |
The genomic and clinical landscape of fetal akinesia.
|
31680123 |
2020 |
Entrez Id: |
6331 |
Gene Symbol: |
SCN5A |
SCN5A
|
Arthrogryposis
|
0.100 |
GeneticVariation |
CLINVAR |
The genomic and clinical landscape of fetal akinesia.
|
31680123 |
2020 |
Entrez Id: |
342035 |
Gene Symbol: |
GLDN |
GLDN
|
Arthrogryposis
|
0.100 |
GeneticVariation |
CLINVAR |
The genomic and clinical landscape of fetal akinesia.
|
31680123 |
2020 |
Entrez Id: |
5913 |
Gene Symbol: |
RAPSN |
RAPSN
|
Arthrogryposis
|
0.100 |
CausalMutation |
CLINVAR |
The genomic and clinical landscape of fetal akinesia.
|
31680123 |
2020 |
Entrez Id: |
4920 |
Gene Symbol: |
ROR2 |
ROR2
|
Arthrogryposis
|
0.100 |
GeneticVariation |
CLINVAR |
The genomic and clinical landscape of fetal akinesia.
|
31680123 |
2020 |
Entrez Id: |
259266 |
Gene Symbol: |
ASPM |
ASPM
|
Arthrogryposis
|
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 |
CausalMutation |
CLINVAR |
The genomic and clinical landscape of fetal akinesia.
|
31680123 |
2020 |
Entrez Id: |
5913 |
Gene Symbol: |
RAPSN |
RAPSN
|
Early severe fetal akinesia sequence
|
0.100 |
CausalMutation |
CLINVAR |
The genomic and clinical landscape of fetal akinesia.
|
31680123 |
2020 |
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 |