Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C0002871
Disease: Anemia
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
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
0.100 GeneticVariation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020

Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
0.100 CausalMutation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
0.100 GeneticVariation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020

Entrez Id: 342035
Gene Symbol: GLDN
GLDN
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
0.100 GeneticVariation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020

Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
0.100 CausalMutation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020

Entrez Id: 4920
Gene Symbol: ROR2
ROR2
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
0.100 GeneticVariation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020

Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
0.100 GeneticVariation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020

Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C0019214
Disease: Hepatosplenomegaly
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
CUI: C0026827
Disease: Muscle hypotonia
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
CUI: C0029089
Disease: Ophthalmoplegia
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
CUI: C0031256
Disease: Petechiae
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
CUI: C0035229
Disease: Respiratory Insufficiency
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
CUI: C0036572
Disease: Seizures
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
CUI: C0040034
Disease: Thrombocytopenia
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
CUI: C0151526
Disease: Premature Birth
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
CUI: C0543888
Disease: Epileptic encephalopathy
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
CUI: C0751740
Disease: Lenticulostriate Vasculopathy
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
CUI: C1386048
Disease: Intrauterine retardation
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
CUI: C2315100
Disease: Pediatric failure to thrive
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
CUI: C2973725
Disease: Pulmonary arterial hypertension
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