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: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 CausalMutation CLINVAR Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. 24769197

2014
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 CausalMutation CLINVAR Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations. 19156172

2009
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 CausalMutation CLINVAR Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options. 17981815

2008
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 CausalMutation CLINVAR Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 18042262

2008
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 CausalMutation CLINVAR Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome. 17567882

2007
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 CausalMutation CLINVAR Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome. 17551924

2007
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 CausalMutation CLINVAR Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. 17366577

2007
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 CausalMutation CLINVAR Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621

2006
Entrez Id: 5476
Gene Symbol: CTSA
CTSA
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		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: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 CausalMutation CLINVAR Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. 8968752

1996
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 CausalMutation CLINVAR

Entrez Id: 2137
Gene Symbol: EXTL3
EXTL3
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 GeneticVariation CLINVAR

Entrez Id: 374393
Gene Symbol: FAM111B
FAM111B
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 GeneticVariation CLINVAR

Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 CausalMutation CLINVAR

Entrez Id: 51091
Gene Symbol: SEPSECS
SEPSECS
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 GeneticVariation CLINVAR

Entrez Id: 6872
Gene Symbol: TAF1
TAF1
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 CausalMutation CLINVAR

Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 CausalMutation CLINVAR