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 |
Entrez Id: |
64135 |
Gene Symbol: |
IFIH1 |
IFIH1
|
Thrombocytopenia
|
0.100 |
CausalMutation |
CLINVAR |
An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1.
|
30965144 |
2020 |
Entrez Id: |
64135 |
Gene Symbol: |
IFIH1 |
IFIH1
|
Premature Birth
|
0.100 |
CausalMutation |
CLINVAR |
An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1.
|
30965144 |
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: |
64135 |
Gene Symbol: |
IFIH1 |
IFIH1
|
Lenticulostriate Vasculopathy
|
0.100 |
CausalMutation |
CLINVAR |
An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1.
|
30965144 |
2020 |
Entrez Id: |
64135 |
Gene Symbol: |
IFIH1 |
IFIH1
|
Intrauterine retardation
|
0.100 |
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
|
Malformations of Cortical Development, Group II
|
0.100 |
GeneticVariation |
CLINVAR |
Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.
|
30690204 |
2020 |
Entrez Id: |
1384 |
Gene Symbol: |
CRAT |
CRAT
|
Pediatric failure to thrive
|
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
|
Mitochondrial respiratory chain defects
|
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
|
Pulmonary arterial hypertension
|
0.100 |
CausalMutation |
CLINVAR |
An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1.
|
30965144 |
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 |