Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		0.720 CausalMutation CLINVAR [Tyrosine hydroxylase deficiency: a case of autosomal recessive dopa-responsive dystonia]. 25224241

2014
Entrez Id: 5624
Gene Symbol: PROC
PROC
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		0.600 CausalMutation CLINVAR [Type I hereditary protein C deficiency due to C5498T mutation in protein C gene]. 14642106

2003
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
CUI: C1850451
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1
CEROID LIPOFUSCINOSIS, NEURONAL, 1 		0.980 GeneticVariation CLINVAR [Two novel mutations in palmitoyl-protein thioesterase gene in two Chinese babies with infantile neuronal ceroid lipofuscinosis]. 17044973

2006
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 CausalMutation CLINVAR [Two gene mutations in fibrillin 1 of Marfan syndrome]. 17680538

2007
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 CausalMutation CLINVAR [Two gene mutations in fibrillin 1 of Marfan syndrome]. 17680538

2007
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 CausalMutation CLINVAR [Two cases of allergic granulomatosis and angiitis (AGA); Churg-Strauss syndrome]. 2084865

1990
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation CLINVAR [Turkish infant with hypoelectrolytemia and metabolic alkalosis as the sole manifestations of a mild form of cystic fibrosis (mutation D110H)]. 10719683

2000
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
CUI: C0751360
Disease: Becker Generalized Myotonia
Becker Generalized Myotonia 		0.800 GeneticVariation CLINVAR [The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen's and Becker's myotonias]. 23113340

2012
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
CUI: C0751360
Disease: Becker Generalized Myotonia
Becker Generalized Myotonia 		0.800 CausalMutation CLINVAR [The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen's and Becker's myotonias]. 23113340

2012
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
CUI: C2936781
Disease: Generalized Myotonia of Thomsen
Generalized Myotonia of Thomsen 		0.800 CausalMutation CLINVAR [The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen's and Becker's myotonias]. 23113340

2012
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
CUI: C2936781
Disease: Generalized Myotonia of Thomsen
Generalized Myotonia of Thomsen 		0.800 GeneticVariation CLINVAR [The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen's and Becker's myotonias]. 23113340

2012
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR [The reflexotherapy of patients with respiratory allergoses]. 1523566

1992
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR [The reflexotherapy of patients with respiratory allergoses]. 1523566

1992
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 CausalMutation CLINVAR [The reaction of a population of redbacked voles (Clethrionomys glareolus) to pollution of the biogeocenosis by 137Cs]. 2698793

1989
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 CausalMutation CLINVAR [The physiology of bed rest]. 2510307

1989
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 CausalMutation CLINVAR [The phenotypes of a hypercholesterolemia family with low density lipoprotein receptor exon 13 A606T mutation]. 23158915

2012
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.430 CausalMutation CLINVAR [The mutations of germline succinate dehydrogrnase subunit B (SDHB) in sporadic paragangliomas]. 21909610

2011
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR [The mutations of germline succinate dehydrogrnase subunit B (SDHB) in sporadic paragangliomas]. 21909610

2011
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 GeneticVariation CLINVAR [The mutation spectrum of phenylalanine hydroxylase gene in patients with phenylketonuria in Henan province]. 21154324

2010
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 CausalMutation CLINVAR [The mutation spectrum of phenylalanine hydroxylase gene in patients with phenylketonuria in Henan province]. 21154324

2010
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		1.000 CausalMutation CLINVAR [The molecular genetic and clinical findings in two probands with Stargardt disease]. 25640233

2014
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 CausalMutation CLINVAR [The measuring for depth of papillary excavation by microcomputer (author's transl)]. 7257965

1980
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.500 GeneticVariation CLINVAR [The long QT syndrome from the bedside to molecular genetic laboratory. The history of the first described Hungarian family]. 16265869

2005
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		1.000 GeneticVariation CLINVAR [The inherited coagulation factor XI deficiency caused by intronic mutation IVS J-4delgttg]. 15946525

2005
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation CLINVAR [The genotype-phenotype correlation of the MYH7 gene c.1273G > a mutation in familial hypertrophic cardiomyopathy]. 19586842

2009