|
| Entrez Id: |
5476 |
| Gene Symbol: |
CTSA |
CTSA
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.
|
24769197 |
2014 |
|
| Entrez Id: |
3265 |
| Gene Symbol: |
HRAS |
HRAS
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.
|
19206176 |
2009 |
|
| Entrez Id: |
3265 |
| Gene Symbol: |
HRAS |
HRAS
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Severe neonatal manifestations of Costello syndrome.
|
18039947 |
2008 |
|
| Entrez Id: |
3265 |
| Gene Symbol: |
HRAS |
HRAS
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.
|
17054105 |
2007 |
|
| Entrez Id: |
3265 |
| Gene Symbol: |
HRAS |
HRAS
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Somatic mosaicism for an HRAS mutation causes Costello syndrome.
|
16969868 |
2006 |
|
| Entrez Id: |
3265 |
| Gene Symbol: |
HRAS |
HRAS
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
|
16443854 |
2006 |
|
| Entrez Id: |
3265 |
| Gene Symbol: |
HRAS |
HRAS
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.
|
16881968 |
2006 |
|
| Entrez Id: |
3265 |
| Gene Symbol: |
HRAS |
HRAS
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
|
16329078 |
2006 |
|
| Entrez Id: |
3265 |
| Gene Symbol: |
HRAS |
HRAS
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.
|
16372351 |
2006 |
|
| Entrez Id: |
3265 |
| Gene Symbol: |
HRAS |
HRAS
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Germline mutations in HRAS proto-oncogene cause Costello syndrome.
|
16170316 |
2005 |
|
| Entrez Id: |
5476 |
| Gene Symbol: |
CTSA |
CTSA
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.
|
10944848 |
2000 |
|
| Entrez Id: |
5476 |
| Gene Symbol: |
CTSA |
CTSA
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.
|
8968752 |
1996 |
|
| Entrez Id: |
5977 |
| Gene Symbol: |
DPF2 |
DPF2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
1788 |
| Gene Symbol: |
DNMT3A |
DNMT3A
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
FAM120AOS
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
2006 |
| Gene Symbol: |
ELN |
ELN
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
84572 |
| Gene Symbol: |
GNPTG |
GNPTG
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6597 |
| Gene Symbol: |
SMARCA4 |
SMARCA4
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
54808 |
| Gene Symbol: |
DYM |
DYM
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3074 |
| Gene Symbol: |
HEXB |
HEXB
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
55650 |
| Gene Symbol: |
PIGV |
PIGV
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
8481 |
| Gene Symbol: |
OFD1 |
OFD1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
65082 |
| Gene Symbol: |
VPS33A |
VPS33A
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
93627 |
| Gene Symbol: |
TBCK |
TBCK
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
3784 |
| Gene Symbol: |
KCNQ1 |
KCNQ1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|