Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1501
Gene Symbol: CTNND2
CTNND2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR δ-Catenin (CTNND2) missense mutation in familial cortical myoclonic tremor and epilepsy. 29127138

2017
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C3550973
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		0.800 CausalMutation CLINVAR β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. 23687123

2013
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C3550973
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		0.800 GeneticVariation CLINVAR β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. 23687123

2013
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C0036572
Disease: Seizures
Seizures 		0.140 GeneticVariation CLINVAR β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. 23687123

2013
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. 23687123

2013
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. 23687123

2013
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. 23687123

2013
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C0231221
Disease: Asymptomatic
Asymptomatic 		0.100 GeneticVariation CLINVAR β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. 23687123

2013
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. 23687123

2013
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 GeneticVariation CLINVAR β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. 23687123

2013
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. 23687123

2013
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		1.000 CausalMutation CLINVAR α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease. 29018006

2017
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.200 CausalMutation CLINVAR α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease. 29018006

2017
Entrez Id: 100529097
Gene Symbol: RPL36A-HNRNPH2
RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.100 CausalMutation CLINVAR α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease. 29018006

2017
Entrez Id: 100529097
Gene Symbol: RPL36A-HNRNPH2
RPL36A-HNRNPH2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.100 CausalMutation CLINVAR α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease. 29018006

2017
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		1.000 CausalMutation CLINVAR [X-linked adrenoleukodystrophy ABCD1 gene mutation analysis in China]. 14767898

2004
Entrez Id: 1376
Gene Symbol: CPT2
CPT2
CUI: C0342790
Disease: Carnitine palmitoyl transferase 2 deficiency
Carnitine palmitoyl transferase 2 deficiency 		0.500 CausalMutation CLINVAR [Women, their menopause and their body weight]. 2762996

1989
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		1.000 GeneticVariation CLINVAR [Wilson disease: an update]. 16998287

2006
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		1.000 CausalMutation CLINVAR [WASP gene mutation analysis of a family of X-linked thrombocytopenia]. 20959042

2010
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1839163
Disease: THROMBOCYTOPENIA 1 (disorder)
THROMBOCYTOPENIA 1 (disorder) 		0.800 CausalMutation CLINVAR [WASP gene mutation analysis of a family of X-linked thrombocytopenia]. 20959042

2010
Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C1845987
Disease: Neutropenia, Severe Congenital, X-Linked
Neutropenia, Severe Congenital, X-Linked 		0.710 CausalMutation CLINVAR [WASP gene mutation analysis of a family of X-linked thrombocytopenia]. 20959042

2010
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 CausalMutation CLINVAR [von Hippel-Lindau syndrome: molecular diagnosis of two Lebanese families and analysis of the genotype-phenotype correlation]. 15881703

2005
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		0.800 GeneticVariation CLINVAR [Usefulness of cholestanol levels in the diagnosis and follow-up of patients with cerebrotendinous xanthomatosis]. 21345536

2011
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 CausalMutation CLINVAR [Urinary incontinence in women is treated differently depending on the type]. 2280636

1990
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease: VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		0.100 CausalMutation CLINVAR [Unilateral partial deferential agenesia and CFTR gene composite heterozygoty (deltaF508/V938G)]. 17507277

2007