Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.100 CausalMutation CLINVAR

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.100 CausalMutation 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
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.100 CausalMutation CLINVAR Recurring HRAS mutation G12S in Dutch patients with Costello syndrome. 16881968

2006
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.100 CausalMutation CLINVAR Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. 16443854

2006
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.100 CausalMutation CLINVAR Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822

2018
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.100 CausalMutation CLINVAR HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. 16329078

2006
Entrez Id: 54499
Gene Symbol: TMCO1
TMCO1
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.100 CausalMutation CLINVAR