Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 347688
Gene Symbol: TUBB8
TUBB8
CUI: C4227845
Disease: Oocyte arrest at metaphase I
Oocyte arrest at metaphase I 		0.100 GeneticVariation CLINVAR Oocyte maturation arrest produced by 32063091

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: 3845
Gene Symbol: KRAS
KRAS
CUI: C0917804
Disease: Arteriovenous Malformations, Cerebral
Arteriovenous Malformations, Cerebral 		0.430 CausalMutation CLINVAR Somatic mutations in intracranial arteriovenous malformations. 31891627

2019
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0917804
Disease: Arteriovenous Malformations, Cerebral
Arteriovenous Malformations, Cerebral 		0.100 CausalMutation CLINVAR Somatic mutations in intracranial arteriovenous malformations. 31891627

2019
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: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
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
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 CausalMutation CLINVAR Functional analysis of six uncharacterised mutations in LDLR gene. 31689621

2019
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: 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: 6261
Gene Symbol: RYR1
RYR1
CUI: C3151520
Disease: Early severe fetal akinesia sequence
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
CUI: C3151520
Disease: Early severe fetal akinesia sequence
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
CUI: C3151520
Disease: Early severe fetal akinesia sequence
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
CUI: C3151520
Disease: Early severe fetal akinesia sequence
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
CUI: C3151520
Disease: Early severe fetal akinesia sequence
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
CUI: C3151520
Disease: Early severe fetal akinesia sequence
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
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		0.100 GeneticVariation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020