Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1947
Gene Symbol: EFNB1
EFNB1
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.400 Biomarker CTD_human Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. 15166289

2004
Entrez Id: 1947
Gene Symbol: EFNB1
EFNB1
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.400 Biomarker HPO

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: 51132
Gene Symbol: RLIM
RLIM
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker HPO

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker HPO

Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker HPO

Entrez Id: 64919
Gene Symbol: BCL11B
BCL11B
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker HPO

Entrez Id: 8558
Gene Symbol: CDK10
CDK10
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker HPO

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker HPO

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker HPO

Entrez Id: 6866
Gene Symbol: TAC3
TAC3
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker HPO

Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker HPO

Entrez Id: 9508
Gene Symbol: ADAMTS3
ADAMTS3
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker HPO