|
| Entrez Id: |
2581 |
| Gene Symbol: |
GALC |
GALC
|
Globoid cell leukodystrophy
|
1.000 |
GeneticVariation |
CLINVAR |
Precision newborn screening for lysosomal disorders.
|
29120458 |
2018 |
|
| Entrez Id: |
2581 |
| Gene Symbol: |
GALC |
GALC
|
Globoid cell leukodystrophy
|
1.000 |
GeneticVariation |
CLINVAR |
Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities.
|
28976722 |
2018 |
|
| Entrez Id: |
410 |
| Gene Symbol: |
ARSA |
ARSA
|
Leukodystrophy, Metachromatic
|
1.000 |
CausalMutation |
CLINVAR |
Identification of Novel ARSA Mutations in Chinese Patients with Metachromatic Leukodystrophy.
|
30057904 |
2018 |
|
| Entrez Id: |
2200 |
| Gene Symbol: |
FBN1 |
FBN1
|
Marfan Syndrome
|
1.000 |
CausalMutation |
CLINVAR |
The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome.
|
29357934 |
2018 |
|
| Entrez Id: |
57152 |
| Gene Symbol: |
SLURP1 |
SLURP1
|
Meleda Disease
|
1.000 |
CausalMutation |
CLINVAR |
SLURP-1 is mutated in Mal de Meleda, a potential molecular signature for melanoma and a putative squamous lineage tumor suppressor gene.
|
29231248 |
2018 |
|
| Entrez Id: |
411 |
| Gene Symbol: |
ARSB |
ARSB
|
Mucopolysaccharidosis VI
|
1.000 |
CausalMutation |
CLINVAR |
The clinical and genetic Spectrum of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI) in the Eastern Province of Saudi Arabia.
|
28914427 |
2018 |
|
| Entrez Id: |
4763 |
| Gene Symbol: |
NF1 |
NF1
|
Neurofibromatosis 1
|
1.000 |
CausalMutation |
CLINVAR |
Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity.
|
29449315 |
2018 |
|
| Entrez Id: |
4763 |
| Gene Symbol: |
NF1 |
NF1
|
Neurofibromatosis 1
|
1.000 |
CausalMutation |
CLINVAR |
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
|
29290338 |
2018 |
|
| Entrez Id: |
4763 |
| Gene Symbol: |
NF1 |
NF1
|
Neurofibromatosis 1
|
1.000 |
CausalMutation |
CLINVAR |
Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1.
|
29673180 |
2018 |
|
| Entrez Id: |
4771 |
| Gene Symbol: |
NF2 |
NF2
|
Neurofibromatosis 2
|
1.000 |
CausalMutation |
CLINVAR |
Neurofibromatosis type 2 French cohort analysis using a comprehensive NF2 molecular diagnostic strategy.
|
26073919 |
2018 |
|
| Entrez Id: |
6654 |
| Gene Symbol: |
SOS1 |
SOS1
|
Noonan Syndrome
|
1.000 |
CausalMutation |
CLINVAR |
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.
|
30266093 |
2018 |
|
| Entrez Id: |
3845 |
| Gene Symbol: |
KRAS |
KRAS
|
Noonan Syndrome
|
1.000 |
CausalMutation |
CLINVAR |
ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.
|
29493581 |
2018 |
|
| Entrez Id: |
5781 |
| Gene Symbol: |
PTPN11 |
PTPN11
|
Noonan Syndrome
|
1.000 |
CausalMutation |
CLINVAR |
ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.
|
29493581 |
2018 |
|
| Entrez Id: |
6654 |
| Gene Symbol: |
SOS1 |
SOS1
|
Noonan Syndrome
|
1.000 |
CausalMutation |
CLINVAR |
ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.
|
29493581 |
2018 |
|
| Entrez Id: |
5894 |
| Gene Symbol: |
RAF1 |
RAF1
|
Noonan Syndrome
|
1.000 |
CausalMutation |
CLINVAR |
ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.
|
29493581 |
2018 |
|
| Entrez Id: |
6654 |
| Gene Symbol: |
SOS1 |
SOS1
|
Noonan Syndrome
|
1.000 |
CausalMutation |
CLINVAR |
Psychopathological features in Noonan syndrome.
|
29037749 |
2018 |
|
| Entrez Id: |
3074 |
| Gene Symbol: |
HEXB |
HEXB
|
Sandhoff Disease
|
1.000 |
CausalMutation |
CLINVAR |
Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis.
|
29448188 |
2018 |
|
| Entrez Id: |
3988 |
| Gene Symbol: |
LIPA |
LIPA
|
Wolman Disease
|
1.000 |
GeneticVariation |
CLINVAR |
Lysosomal acid lipase deficiency in all siblings of the same parents.
|
28502515 |
2018 |
|
| Entrez Id: |
7157 |
| Gene Symbol: |
TP53 |
TP53
|
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation |
CLINVAR |
Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark.
|
29324801 |
2018 |
|
| Entrez Id: |
7157 |
| Gene Symbol: |
TP53 |
TP53
|
Li-Fraumeni Syndrome
|
1.000 |
CausalMutation |
CLINVAR |
Mutational processes shape the landscape of TP53 mutations in human cancer.
|
30224644 |
2018 |
|
| Entrez Id: |
7157 |
| Gene Symbol: |
TP53 |
TP53
|
Li-Fraumeni Syndrome
|
1.000 |
CausalMutation |
CLINVAR |
Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome.
|
29070607 |
2018 |
|
| Entrez Id: |
7157 |
| Gene Symbol: |
TP53 |
TP53
|
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation |
CLINVAR |
Mutational processes shape the landscape of TP53 mutations in human cancer.
|
30224644 |
2018 |
|
| Entrez Id: |
5314 |
| Gene Symbol: |
PKHD1 |
PKHD1
|
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
GeneticVariation |
CLINVAR |
[Genetic diagnosis of Caroli syndrome with autosomal recessive polycystic kidney disease: a case report and literature review].
|
29643536 |
2018 |
|
| Entrez Id: |
5314 |
| Gene Symbol: |
PKHD1 |
PKHD1
|
Autosomal Recessive Polycystic Kidney Disease
|
1.000 |
CausalMutation |
CLINVAR |
Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies.
|
29956005 |
2018 |
|
| Entrez Id: |
5781 |
| Gene Symbol: |
PTPN11 |
PTPN11
|
LEOPARD Syndrome
|
1.000 |
CausalMutation |
CLINVAR |
ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.
|
29493581 |
2018 |