Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 58499
Gene Symbol: ZNF462
ZNF462 		0.400 CausalMutation disease CLINVAR
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1 		0.130 CausalMutation disease CLINVAR
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.120 GeneticVariation disease CLINVAR
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.110 CausalMutation disease CLINVAR Genotype differences in cognitive functioning in Noonan syndrome. 19077116 2009
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.110 CausalMutation disease CLINVAR Noonan syndrome and related disorders: genetics and pathogenesis. 16124853 2005
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.110 CausalMutation disease CLINVAR Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. 12960218 2003
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.110 CausalMutation disease CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261 2002
Entrez Id: 6016
Gene Symbol: RIT1
RIT1 		0.110 CausalMutation disease CLINVAR
Entrez Id: 84294
Gene Symbol: UTP23
UTP23 		0.100 GeneticVariation disease CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
Entrez Id: 5885
Gene Symbol: RAD21
RAD21 		0.100 GeneticVariation disease CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1 		0.100 GeneticVariation disease CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		0.100 CausalMutation disease CLINVAR SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. 21387466 2011
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		0.100 CausalMutation disease CLINVAR Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. 19953625 2010
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		0.100 CausalMutation disease CLINVAR Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations. 20683980 2010
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		0.100 CausalMutation disease CLINVAR PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. 19020799 2008
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		0.100 CausalMutation disease CLINVAR SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. 17586837 2007
Entrez Id: 285175
Gene Symbol: UNC80
UNC80 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.100 CausalMutation disease CLINVAR
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2 		0.100 CausalMutation disease CLINVAR
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		0.100 CausalMutation disease CLINVAR
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 122622
Gene Symbol: ADSS1
ADSS1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 1144
Gene Symbol: CHRND
CHRND 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.100 CausalMutation disease CLINVAR