Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5476
Gene Symbol: CTSA
CTSA
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.100 CausalMutation CLINVAR Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. 24769197

2014
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.100 CausalMutation 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
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.100 CausalMutation CLINVAR Severe neonatal manifestations of Costello syndrome. 18039947

2008
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		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: C1845847
Disease: Coarse facial features
Coarse facial features 		0.100 CausalMutation CLINVAR Somatic mosaicism for an HRAS mutation causes Costello syndrome. 16969868

2006
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.100 CausalMutation CLINVAR Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. 16443854

2006
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.100 CausalMutation CLINVAR Recurring HRAS mutation G12S in Dutch patients with Costello syndrome. 16881968

2006
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.100 CausalMutation CLINVAR HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. 16329078

2006
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.100 CausalMutation 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
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.100 CausalMutation CLINVAR Germline mutations in HRAS proto-oncogene cause Costello syndrome. 16170316

2005
Entrez Id: 5476
Gene Symbol: CTSA
CTSA
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.100 CausalMutation CLINVAR Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. 10944848

2000
Entrez Id: 5476
Gene Symbol: CTSA
CTSA
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.100 CausalMutation CLINVAR Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. 8968752

1996
Entrez Id: 158293
Gene Symbol: FAM120AOS
FAM120AOS
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.100 GeneticVariation CLINVAR

Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.100 GeneticVariation CLINVAR

Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.100 CausalMutation CLINVAR

Entrez Id: 86
Gene Symbol: ACTL6A
ACTL6A
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.100 GeneticVariation CLINVAR

Entrez Id: 57231
Gene Symbol: SNX14
SNX14
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.100 CausalMutation CLINVAR

Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.100 GeneticVariation CLINVAR

Entrez Id: 6949
Gene Symbol: TCOF1
TCOF1
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.100 GeneticVariation CLINVAR

Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.100 CausalMutation CLINVAR

Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.100 CausalMutation CLINVAR

Entrez Id: 6448
Gene Symbol: SGSH
SGSH
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.100 CausalMutation CLINVAR

Entrez Id: 79641
Gene Symbol: ROGDI
ROGDI
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.100 CausalMutation CLINVAR

Entrez Id: 10743
Gene Symbol: RAI1
RAI1
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.100 CausalMutation CLINVAR

Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.100 GeneticVariation CLINVAR