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: |
5663 |
Gene Symbol: |
PSEN1 |
PSEN1
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation |
CLINVAR |
A novel mutation in PSEN1 (p.T119I) in an Argentine family with early- and late-onset Alzheimer's disease.
|
31153663 |
2020 |
Entrez Id: |
64135 |
Gene Symbol: |
IFIH1 |
IFIH1
|
AICARDI-GOUTIERES SYNDROME 7
|
0.610 |
CausalMutation |
CLINVAR |
An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1.
|
30965144 |
2020 |
Entrez Id: |
477 |
Gene Symbol: |
ATP1A2 |
ATP1A2
|
Hydrops Fetalis
|
0.410 |
GeneticVariation |
CLINVAR |
Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.
|
30690204 |
2020 |
Entrez Id: |
477 |
Gene Symbol: |
ATP1A2 |
ATP1A2
|
Arthrogryposis
|
0.400 |
GeneticVariation |
CLINVAR |
Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.
|
30690204 |
2020 |
Entrez Id: |
477 |
Gene Symbol: |
ATP1A2 |
ATP1A2
|
Epilepsy
|
0.200 |
GeneticVariation |
CLINVAR |
Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.
|
30690204 |
2020 |
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: |
1384 |
Gene Symbol: |
CRAT |
CRAT
|
Carnitine Acetyltransferase Deficiency
|
0.110 |
GeneticVariation |
CLINVAR |
CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.
|
31448845 |
2020 |
Entrez Id: |
64135 |
Gene Symbol: |
IFIH1 |
IFIH1
|
Anemia
|
0.100 |
CausalMutation |
CLINVAR |
An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1.
|
30965144 |
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: |
64135 |
Gene Symbol: |
IFIH1 |
IFIH1
|
Hepatosplenomegaly
|
0.100 |
CausalMutation |
CLINVAR |
An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1.
|
30965144 |
2020 |
Entrez Id: |
1384 |
Gene Symbol: |
CRAT |
CRAT
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.
|
31448845 |
2020 |
Entrez Id: |
1384 |
Gene Symbol: |
CRAT |
CRAT
|
Ophthalmoplegia
|
0.100 |
GeneticVariation |
CLINVAR |
CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.
|
31448845 |
2020 |
Entrez Id: |
64135 |
Gene Symbol: |
IFIH1 |
IFIH1
|
Petechiae
|
0.100 |
CausalMutation |
CLINVAR |
An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1.
|
30965144 |
2020 |
Entrez Id: |
1384 |
Gene Symbol: |
CRAT |
CRAT
|
Respiratory Insufficiency
|
0.100 |
GeneticVariation |
CLINVAR |
CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.
|
31448845 |
2020 |
Entrez Id: |
1384 |
Gene Symbol: |
CRAT |
CRAT
|
Seizures
|
0.100 |
GeneticVariation |
CLINVAR |
CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.
|
31448845 |
2020 |