|
| Entrez Id: |
5172 |
| Gene Symbol: |
SLC26A4 |
SLC26A4
|
Pediatric failure to thrive
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
6576 |
| Gene Symbol: |
SLC25A1 |
SLC25A1
|
Pediatric failure to thrive
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
8036 |
| Gene Symbol: |
SHOC2 |
SHOC2
|
Pediatric failure to thrive
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
51091 |
| Gene Symbol: |
SEPSECS |
SEPSECS
|
Pediatric failure to thrive
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
51091 |
| Gene Symbol: |
SEPSECS |
SEPSECS
|
Pediatric failure to thrive
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
100151683 |
| Gene Symbol: |
RNU4ATAC |
RNU4ATAC
|
Pediatric failure to thrive
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
100151683 |
| Gene Symbol: |
RNU4ATAC |
RNU4ATAC
|
Pediatric failure to thrive
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
5894 |
| Gene Symbol: |
RAF1 |
RAF1
|
Pediatric failure to thrive
|
0.100 |
CausalMutation |
CLINVAR |
Germline gain-of-function mutations in RAF1 cause Noonan syndrome.
|
17603482 |
2007 |
|
| Entrez Id: |
5894 |
| Gene Symbol: |
RAF1 |
RAF1
|
Pediatric failure to thrive
|
0.100 |
CausalMutation |
CLINVAR |
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
|
17603483 |
2007 |
|
| Entrez Id: |
5781 |
| Gene Symbol: |
PTPN11 |
PTPN11
|
Pediatric failure to thrive
|
0.100 |
CausalMutation |
CLINVAR |
The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.
|
15928039 |
2005 |
|
| Entrez Id: |
5781 |
| Gene Symbol: |
PTPN11 |
PTPN11
|
Pediatric failure to thrive
|
0.100 |
CausalMutation |
CLINVAR |
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.
|
12717436 |
2003 |
|
| Entrez Id: |
5781 |
| Gene Symbol: |
PTPN11 |
PTPN11
|
Pediatric failure to thrive
|
0.100 |
CausalMutation |
CLINVAR |
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
|
11704759 |
2001 |
|
| Entrez Id: |
5781 |
| Gene Symbol: |
PTPN11 |
PTPN11
|
Pediatric failure to thrive
|
0.100 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlations in Noonan syndrome.
|
15001945 |
2004 |
|
| Entrez Id: |
5781 |
| Gene Symbol: |
PTPN11 |
PTPN11
|
Pediatric failure to thrive
|
0.100 |
CausalMutation |
CLINVAR |
A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data.
|
29555671 |
2018 |
|
| Entrez Id: |
5781 |
| Gene Symbol: |
PTPN11 |
PTPN11
|
Pediatric failure to thrive
|
0.100 |
CausalMutation |
CLINVAR |
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
|
16358218 |
2006 |
|
| Entrez Id: |
57479 |
| Gene Symbol: |
PRR12 |
PRR12
|
Pediatric failure to thrive
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
23203 |
| Gene Symbol: |
PMPCA |
PMPCA
|
Pediatric failure to thrive
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
5373 |
| Gene Symbol: |
PMM2 |
PMM2
|
Pediatric failure to thrive
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
5373 |
| Gene Symbol: |
PMM2 |
PMM2
|
Pediatric failure to thrive
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
9091 |
| Gene Symbol: |
PIGQ |
PIGQ
|
Pediatric failure to thrive
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
55023 |
| Gene Symbol: |
PHIP |
PHIP
|
Pediatric failure to thrive
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
5190 |
| Gene Symbol: |
PEX6 |
PEX6
|
Pediatric failure to thrive
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
51633 |
| Gene Symbol: |
OTUD6B |
OTUD6B
|
Pediatric failure to thrive
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
NPHP3-ACAD11
|
Pediatric failure to thrive
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
NPHP3-ACAD11
|
Pediatric failure to thrive
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|