Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1 		0.100 CausalMutation disease CLINVAR Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822 2018
Entrez Id: 8942
Gene Symbol: KYNU
KYNU 		0.100 CausalMutation disease CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
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: 8621
Gene Symbol: CDK13
CDK13 		0.100 GeneticVariation disease CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		0.100 CausalMutation disease CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A 		0.100 CausalMutation disease CLINVAR A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A. 25590586 2015
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.100 CausalMutation disease CLINVAR Genotype differences in cognitive functioning in Noonan syndrome. 19077116 2009
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		0.100 CausalMutation disease CLINVAR [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis]. 19065518 2008
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.100 CausalMutation disease CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218 2006
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.100 CausalMutation disease CLINVAR Noonan syndrome and related disorders: genetics and pathogenesis. 16124853 2005
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		0.100 CausalMutation disease CLINVAR New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. 15596759 2004
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.100 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 		0.100 CausalMutation disease 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 disease CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759 2001
Entrez Id: 10735
Gene Symbol: STAG2
STAG2 		0.100 Biomarker disease HPO
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		0.100 Biomarker disease HPO
Entrez Id: 7703
Gene Symbol: PCGF2
PCGF2 		0.100 Biomarker disease HPO
Entrez Id: 28952
Gene Symbol: CCDC22
CCDC22 		0.100 Biomarker disease HPO
Entrez Id: 5979
Gene Symbol: RET
RET 		0.100 Biomarker disease HPO
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A 		0.100 CausalMutation disease CLINVAR
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		0.100 Biomarker disease HPO
Entrez Id: 10082
Gene Symbol: GPC6
GPC6 		0.100 Biomarker disease HPO
Entrez Id: 79796
Gene Symbol: ALG9
ALG9 		0.100 Biomarker disease HPO
Entrez Id: 117581
Gene Symbol: TWIST2
TWIST2 		0.100 Biomarker disease HPO
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		0.100 Biomarker disease HPO