Entrez Id: |
1501 |
Gene Symbol: |
CTNND2 |
CTNND2
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
Hypertrophic Cardiomyopathy
|
0.200 |
CausalMutation |
CLINVAR |
α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease.
|
29018006 |
2017 |
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease.
|
29018006 |
2017 |
RPL36A-HNRNPH2
|
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
|
Adrenoleukodystrophy
|
1.000 |
CausalMutation |
CLINVAR |
[X-linked adrenoleukodystrophy ABCD1 gene mutation analysis in China].
|
14767898 |
2004 |
Entrez Id: |
1376 |
Gene Symbol: |
CPT2 |
CPT2
|
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
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation |
CLINVAR |
[Wilson disease: an update].
|
16998287 |
2006 |
Entrez Id: |
7454 |
Gene Symbol: |
WAS |
WAS
|
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
|
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
|
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
|
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
|
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
|
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
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
0.100 |
CausalMutation |
CLINVAR |
[Unilateral partial deferential agenesia and CFTR gene composite heterozygoty (deltaF508/V938G)].
|
17507277 |
2007 |