Entrez Id: |
6872 |
Gene Symbol: |
TAF1 |
TAF1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
27086 |
Gene Symbol: |
FOXP1 |
FOXP1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
8398 |
Gene Symbol: |
PLA2G6 |
PLA2G6
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
5015 |
Gene Symbol: |
OTX2 |
OTX2
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
6323 |
Gene Symbol: |
SCN1A |
SCN1A
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
3190 |
Gene Symbol: |
HNRNPK |
HNRNPK
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
SCN1A-AS1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
2263 |
Gene Symbol: |
FGFR2 |
FGFR2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
29123 |
Gene Symbol: |
ANKRD11 |
ANKRD11
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
2121 |
Gene Symbol: |
EVC |
EVC
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
9343 |
Gene Symbol: |
EFTUD2 |
EFTUD2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
5781 |
Gene Symbol: |
PTPN11 |
PTPN11
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
|
11704759 |
2001 |
Entrez Id: |
79644 |
Gene Symbol: |
SRD5A3 |
SRD5A3
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
9990 |
Gene Symbol: |
SLC12A6 |
SLC12A6
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
2263 |
Gene Symbol: |
FGFR2 |
FGFR2
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
55023 |
Gene Symbol: |
PHIP |
PHIP
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
55636 |
Gene Symbol: |
CHD7 |
CHD7
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
57479 |
Gene Symbol: |
PRR12 |
PRR12
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
23332 |
Gene Symbol: |
CLASP1 |
CLASP1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
4204 |
Gene Symbol: |
MECP2 |
MECP2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
7703 |
Gene Symbol: |
PCGF2 |
PCGF2
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
673 |
Gene Symbol: |
BRAF |
BRAF
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
64324 |
Gene Symbol: |
NSD1 |
NSD1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
5781 |
Gene Symbol: |
PTPN11 |
PTPN11
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
|
11992261 |
2002 |
Entrez Id: |
8216 |
Gene Symbol: |
LZTR1 |
LZTR1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
|
29469822 |
2018 |