|
| Entrez Id: |
2158 |
| Gene Symbol: |
F9 |
F9
|
Hemophilia B
|
1.000 |
CausalMutation |
CLINVAR |
The chaperone-like sodium phenylbutyrate improves factor IX intracellular trafficking and activity impaired by the frequent p.R294Q mutation.
|
29993188 |
2018 |
|
| Entrez Id: |
2158 |
| Gene Symbol: |
F9 |
F9
|
Hemophilia B
|
1.000 |
GeneticVariation |
CLINVAR |
Mutation Spectrum and Genotype-Phenotype Analyses in a Pakistani Cohort With Hemophilia B.
|
28752769 |
2018 |
|
| Entrez Id: |
1080 |
| Gene Symbol: |
CFTR |
CFTR
|
Cystic Fibrosis
|
1.000 |
CausalMutation |
CLINVAR |
Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons.
|
29497617 |
2018 |
|
| Entrez Id: |
1080 |
| Gene Symbol: |
CFTR |
CFTR
|
Cystic Fibrosis
|
1.000 |
CausalMutation |
CLINVAR |
Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators.
|
30046002 |
2018 |
|
| Entrez Id: |
1080 |
| Gene Symbol: |
CFTR |
CFTR
|
Cystic Fibrosis
|
1.000 |
GeneticVariation |
CLINVAR |
Comprehensive genetic study of cystic fibrosis in Slovak patients in 25 years of genetic diagnostics.
|
28544683 |
2018 |
|
| Entrez Id: |
1080 |
| Gene Symbol: |
CFTR |
CFTR
|
Cystic Fibrosis
|
1.000 |
CausalMutation |
CLINVAR |
Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.
|
29805046 |
2018 |
|
| Entrez Id: |
1756 |
| Gene Symbol: |
DMD |
DMD
|
Muscular Dystrophy, Duchenne
|
1.000 |
CausalMutation |
CLINVAR |
Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases.
|
26968818 |
2018 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
CausalMutation |
CLINVAR |
Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease.
|
29451150 |
2018 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
GeneticVariation |
CLINVAR |
A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan.
|
29124014 |
2018 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
CausalMutation |
CLINVAR |
A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan.
|
29124014 |
2018 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
GeneticVariation |
CLINVAR |
Pompe Disease Could Mimic Exam Findings of Amyloidosis: Two Rare Diagnoses Bona Fide.
|
30510819 |
2018 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
CausalMutation |
CLINVAR |
The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients.
|
30023291 |
2018 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
CausalMutation |
CLINVAR |
Pompe disease in Austria: clinical, genetic and epidemiological aspects.
|
29181627 |
2018 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
GeneticVariation |
CLINVAR |
Pompe disease in Austria: clinical, genetic and epidemiological aspects.
|
29181627 |
2018 |
|
| Entrez Id: |
178 |
| Gene Symbol: |
AGL |
AGL
|
Glycogen Storage Disease Type III
|
1.000 |
CausalMutation |
CLINVAR |
Genetic analysis and clinical assessment of four patients with Glycogen Storage Disease Type IIIa in China.
|
29614965 |
2018 |
|
| Entrez Id: |
178 |
| Gene Symbol: |
AGL |
AGL
|
Glycogen Storage Disease Type III
|
1.000 |
CausalMutation |
CLINVAR |
Late presentation of glycogen storage disease types Ia and III in children with short stature and hepatomegaly.
|
29374762 |
2018 |
|
| Entrez Id: |
5728 |
| Gene Symbol: |
PTEN |
PTEN
|
Hamartoma Syndrome, Multiple
|
1.000 |
CausalMutation |
CLINVAR |
A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.
|
29706350 |
2018 |
|
| Entrez Id: |
5728 |
| Gene Symbol: |
PTEN |
PTEN
|
Hamartoma Syndrome, Multiple
|
1.000 |
CausalMutation |
CLINVAR |
Multiplex assessment of protein variant abundance by massively parallel sequencing.
|
29785012 |
2018 |
|
| Entrez Id: |
540 |
| Gene Symbol: |
ATP7B |
ATP7B
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation |
CLINVAR |
An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease.
|
30087448 |
2018 |
|
| Entrez Id: |
540 |
| Gene Symbol: |
ATP7B |
ATP7B
|
Hepatolenticular Degeneration
|
1.000 |
CausalMutation |
CLINVAR |
High genetic carrier frequency of Wilson's disease in France: discrepancies with clinical prevalence.
|
30097039 |
2018 |
|
| Entrez Id: |
540 |
| Gene Symbol: |
ATP7B |
ATP7B
|
Hepatolenticular Degeneration
|
1.000 |
CausalMutation |
CLINVAR |
Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report.
|
29649982 |
2018 |
|
| Entrez Id: |
540 |
| Gene Symbol: |
ATP7B |
ATP7B
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation |
CLINVAR |
Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report.
|
29649982 |
2018 |
|
| Entrez Id: |
7428 |
| Gene Symbol: |
VHL |
VHL
|
Von Hippel-Lindau Syndrome
|
1.000 |
CausalMutation |
CLINVAR |
Preventive medicine of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumors.
|
29748190 |
2018 |
|
| Entrez Id: |
2581 |
| Gene Symbol: |
GALC |
GALC
|
Globoid cell leukodystrophy
|
1.000 |
CausalMutation |
CLINVAR |
Large-scale study of clinical and biochemical characteristics of Chinese patients diagnosed with Krabbe disease.
|
28598007 |
2018 |
|
| Entrez Id: |
2581 |
| Gene Symbol: |
GALC |
GALC
|
Globoid cell leukodystrophy
|
1.000 |
GeneticVariation |
CLINVAR |
A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family.
|
30209698 |
2018 |