Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C0239234
Disease: Low set ears
Low set ears 		0.110 CausalMutation CLINVAR

Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 CausalMutation CLINVAR Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822

2018
Entrez Id: 8942
Gene Symbol: KYNU
KYNU
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876

2017
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699

2017
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 GeneticVariation 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
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 CausalMutation 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
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 CausalMutation 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
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 CausalMutation CLINVAR Genotype differences in cognitive functioning in Noonan syndrome. 19077116

2009
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 CausalMutation 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
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 CausalMutation CLINVAR Noonan syndrome and related disorders: genetics and pathogenesis. 16124853

2005
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 CausalMutation CLINVAR New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. 15596759

2004
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 CausalMutation CLINVAR Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. 12960218

2003
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261

2002
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759

2001
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 CausalMutation CLINVAR

Entrez Id: 79053
Gene Symbol: ALG8
ALG8
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 CausalMutation CLINVAR

Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 GeneticVariation CLINVAR

Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 GeneticVariation CLINVAR

Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 CausalMutation CLINVAR

Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 CausalMutation CLINVAR

Entrez Id: 4882
Gene Symbol: NPR2
NPR2
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 CausalMutation CLINVAR

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 CausalMutation CLINVAR

Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 CausalMutation CLINVAR

Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 GeneticVariation CLINVAR