Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51053
Gene Symbol: GMNN
GMNN 		0.100 CausalMutation disease CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		0.100 CausalMutation disease CLINVAR Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism. 19206176 2009
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		0.100 CausalMutation disease CLINVAR Severe neonatal manifestations of Costello syndrome. 18039947 2008
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		0.100 CausalMutation disease CLINVAR Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. 17054105 2007
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		0.100 CausalMutation disease CLINVAR HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. 16329078 2006
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		0.100 CausalMutation disease CLINVAR Recurring HRAS mutation G12S in Dutch patients with Costello syndrome. 16881968 2006
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		0.100 CausalMutation disease CLINVAR HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy. 16372351 2006
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		0.100 CausalMutation disease CLINVAR Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. 16443854 2006
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		0.100 CausalMutation disease CLINVAR Somatic mosaicism for an HRAS mutation causes Costello syndrome. 16969868 2006
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		0.100 CausalMutation disease CLINVAR Germline mutations in HRAS proto-oncogene cause Costello syndrome. 16170316 2005
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		0.100 Biomarker disease HPO
Entrez Id: 4796
Gene Symbol: TONSL
TONSL 		0.100 Biomarker disease HPO
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1 		0.100 Biomarker disease HPO
Entrez Id: 51199
Gene Symbol: NIN
NIN 		0.100 Biomarker disease HPO
Entrez Id: 341640
Gene Symbol: FREM2
FREM2 		0.100 Biomarker disease HPO
Entrez Id: 79753
Gene Symbol: SNIP1
SNIP1 		0.100 Biomarker disease HPO
Entrez Id: 6926
Gene Symbol: TBX3
TBX3 		0.100 Biomarker disease HPO
Entrez Id: 23426
Gene Symbol: GRIP1
GRIP1 		0.100 Biomarker disease HPO
Entrez Id: 4054
Gene Symbol: LTBP3
LTBP3 		0.100 Biomarker disease HPO
Entrez Id: 6885
Gene Symbol: MAP3K7
MAP3K7 		0.100 Biomarker disease HPO
Entrez Id: 3605
Gene Symbol: IL17A
IL17A 		0.010 Biomarker disease BEFREE These results offer mechanistic support for future translational study of clinical reagents for manipulation of the IL-17A pathway in iSGS patients. 30322354 2019
Entrez Id: 2100
Gene Symbol: ESR2
ESR2 		0.010 AlteredExpression disease BEFREE Increased expression of estrogen receptor beta in idiopathic progressive subglottic stenosis. 31643093 2019
Entrez Id: 450095
Gene Symbol: PLF
PLF 		0.010 Biomarker disease BEFREE Accuracy of Magnetic Resonance Imaging for Grading of Subglottic Stenosis in Patients With Granulomatosis With Polyangiitis: Correlation With Pulmonary Function Tests and Laryngoscopy. 28772006 2018
Entrez Id: 59330
Gene Symbol: GER
GER 		0.010 Biomarker disease BEFREE Gastroesophageal Reflux Characteristics and Patterns in Patients with Idiopathic Subglottic Stenosis. 29991945 2018
Entrez Id: 3458
Gene Symbol: IFNG
IFNG 		0.010 AlteredExpression disease BEFREE Preliminary gene expression suggests that abnormal collagen production may be mediated by the T<sub>H</sub>2 cytokine IL-4 and that increased INF-γ expression may represent a key difference between iatrogenic LTS and idiopathic subglottic stenosis. 28485188 2017