Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2 		0.100 GeneticVariation phenotype CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1 		0.100 GeneticVariation phenotype CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A 		0.100 CausalMutation phenotype CLINVAR Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. 25728777 2015
Entrez Id: 3832
Gene Symbol: KIF11
KIF11 		0.100 CausalMutation phenotype CLINVAR Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature. 25115524 2014
Entrez Id: 3832
Gene Symbol: KIF11
KIF11 		0.100 CausalMutation phenotype CLINVAR Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations. 25124931 2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.100 CausalMutation phenotype CLINVAR Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome. 22711529 2012
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		0.100 CausalMutation phenotype 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 phenotype 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 phenotype CLINVAR Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. 19953625 2010
Entrez Id: 259266
Gene Symbol: ASPM
ASPM 		0.100 GeneticVariation phenotype CLINVAR Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations. 19770472 2009
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		0.100 CausalMutation phenotype 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 phenotype CLINVAR SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. 17586837 2007
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 PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. 12161469 2002
Entrez Id: 259266
Gene Symbol: ASPM
ASPM 		0.100 GeneticVariation phenotype CLINVAR ASPM is a major determinant of cerebral cortical size. 12355089 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: 6638
Gene Symbol: SNRPN
SNRPN 		0.100 Biomarker phenotype HPO
Entrez Id: 57539
Gene Symbol: WDR35
WDR35 		0.100 Biomarker phenotype HPO
Entrez Id: 8642
Gene Symbol: DCHS1
DCHS1 		0.100 Biomarker phenotype HPO
Entrez Id: 791114
Gene Symbol: PWRN1
PWRN1 		0.100 Biomarker phenotype HPO
Entrez Id: 4692
Gene Symbol: NDN
NDN 		0.100 Biomarker phenotype HPO
Entrez Id: 1822
Gene Symbol: ATN1
ATN1 		0.100 Biomarker phenotype HPO
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		0.100 Biomarker phenotype HPO
Entrez Id: 9990
Gene Symbol: SLC12A6
SLC12A6 		0.100 Biomarker phenotype HPO
Entrez Id: 259266
Gene Symbol: ASPM
ASPM 		0.100 Biomarker phenotype HPO