Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
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
CUI: C0024796
Disease: Marfan Syndrome
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
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
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
CUI: C3888244
Disease: AICARDI-GOUTIERES SYNDROME 7
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
CUI: C0020305
Disease: Hydrops Fetalis
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
CUI: C0003886
Disease: Arthrogryposis
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
CUI: C0014544
Disease: Epilepsy
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
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.130 CausalMutation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.130 GeneticVariation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.130 CausalMutation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020
Entrez Id: 1384
Gene Symbol: CRAT
CRAT
CUI: C1443228
Disease: Carnitine Acetyltransferase Deficiency
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
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