|
| Entrez Id: |
5781 |
| Gene Symbol: |
PTPN11 |
PTPN11
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.
|
15928039 |
2005 |
|
| Entrez Id: |
5781 |
| Gene Symbol: |
PTPN11 |
PTPN11
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Genotype-phenotype correlations in Noonan syndrome.
|
15001945 |
2004 |
|
| Entrez Id: |
5781 |
| Gene Symbol: |
PTPN11 |
PTPN11
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.
|
12717436 |
2003 |
|
| Entrez Id: |
5781 |
| Gene Symbol: |
PTPN11 |
PTPN11
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
|
11992261 |
2002 |
|
| Entrez Id: |
5781 |
| Gene Symbol: |
PTPN11 |
PTPN11
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
|
11704759 |
2001 |
|
| 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: |
5172 |
| Gene Symbol: |
SLC26A4 |
SLC26A4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
54476 |
| Gene Symbol: |
RNF216 |
RNF216
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
SECISBP2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2629 |
| Gene Symbol: |
GBA |
GBA
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6557 |
| Gene Symbol: |
SLC12A1 |
SLC12A1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
89910 |
| Gene Symbol: |
UBE3B |
UBE3B
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
123016 |
| Gene Symbol: |
TTC8 |
TTC8
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
128674 |
| Gene Symbol: |
PROKR2 |
PROKR2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
89884 |
| Gene Symbol: |
LHX4 |
LHX4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9862 |
| Gene Symbol: |
MED24 |
MED24
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
57697 |
| Gene Symbol: |
FANCM |
FANCM
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3835 |
| Gene Symbol: |
KIF22 |
KIF22
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
1588 |
| Gene Symbol: |
CYP19A1 |
CYP19A1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2542 |
| Gene Symbol: |
SLC37A4 |
SLC37A4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
23126 |
| Gene Symbol: |
POGZ |
POGZ
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
55630 |
| Gene Symbol: |
SLC39A4 |
SLC39A4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
58484 |
| Gene Symbol: |
NLRC4 |
NLRC4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4621 |
| Gene Symbol: |
MYH3 |
MYH3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|