Source: ALL

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 Biomarker BEFREE Strikingly, monoallelic loss of ARID1A in NCCs led to craniofacial defects in adult mice, including shortened snouts and low set ears, and these defects were more pronounced following homozygous loss of ARID1A, with the ventral cranial bones being greatly reduced in size. 26806701

2016
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: 10735
Gene Symbol: STAG2
STAG2
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker HPO

Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker HPO

Entrez Id: 7703
Gene Symbol: PCGF2
PCGF2
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker HPO

Entrez Id: 28952
Gene Symbol: CCDC22
CCDC22
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker HPO

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker HPO

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

Entrez Id: 23556
Gene Symbol: PIGN
PIGN
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker HPO

Entrez Id: 10082
Gene Symbol: GPC6
GPC6
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker HPO

Entrez Id: 79796
Gene Symbol: ALG9
ALG9
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker HPO