Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
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