Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 CausalMutation CLINVAR Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation. 31568861

2019
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 CausalMutation CLINVAR Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822

2018
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		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: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699

2017
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 CausalMutation CLINVAR Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation. 28344185

2017
Entrez Id: 8925
Gene Symbol: HERC1
HERC1
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation CLINVAR A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum. 27108999

2016
Entrez Id: 84910
Gene Symbol: TMEM87B
TMEM87B
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation CLINVAR Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy. 27148590

2016
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 CausalMutation CLINVAR Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621

2006
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 CausalMutation CLINVAR "PTPN11 gene mutations: linking the Gln510Glu mutation to the ""LEOPARD syndrome phenotype""." 16733669

2006
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 CausalMutation CLINVAR Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404

2006
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 CausalMutation CLINVAR A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy. 15889278

2005
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759

2001
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 CausalMutation CLINVAR

Entrez Id: 6016
Gene Symbol: RIT1
RIT1
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation CLINVAR

Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 CausalMutation CLINVAR

Entrez Id: 8239
Gene Symbol: USP9X
USP9X
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation CLINVAR

Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation CLINVAR

Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 CausalMutation CLINVAR

Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation CLINVAR

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 CausalMutation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 CausalMutation CLINVAR

Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 CausalMutation CLINVAR

Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 CausalMutation CLINVAR

Entrez Id: 26610
Gene Symbol: ELP4
ELP4
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation CLINVAR