Disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517277
rs1057517277
Entrez Id: 9509
Gene Symbol: ADAMTS2
ADAMTS2
CUI: C2700425
Disease:
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE 		A 0.700 GeneticVariation CLINVAR Dermatosparaxis (Ehlers-Danlos type VIIC): prenatal diagnosis following a previous pregnancy with unexpected skull fractures at delivery. 23495203 2013
dbSNP: rs137853146
rs137853146
Entrez Id: 9509
Gene Symbol: ADAMTS2
ADAMTS2
CUI: C2700425
Disease:
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE 		A 0.700 CausalMutation CLINVAR Multiple congenital skull fractures as a presentation of Ehlers-Danlos syndrome type VIIC. 18973246 2008
dbSNP: rs137853147
rs137853147
Entrez Id: 9509
Gene Symbol: ADAMTS2
ADAMTS2
CUI: C2700425
Disease:
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE 		T 0.700 GeneticVariation CLINVAR The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC). 15389701 2004
dbSNP: rs137853146
rs137853146
Entrez Id: 9509
Gene Symbol: ADAMTS2
ADAMTS2
CUI: C2700425
Disease:
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE 		A 0.700 CausalMutation CLINVAR Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. 10417273 1999
dbSNP: rs137853147
rs137853147
Entrez Id: 9509
Gene Symbol: ADAMTS2
ADAMTS2
CUI: C2700425
Disease:
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE 		T 0.700 GeneticVariation CLINVAR Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. 10417273 1999
dbSNP: rs137853146
rs137853146
Entrez Id: 9509
Gene Symbol: ADAMTS2
ADAMTS2
CUI: C2700425
Disease:
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE 		A 0.700 CausalMutation CLINVAR Clinical, morphological, and biochemical phenotype of a new case of Ehlers-Danlos syndrome type VIIC. 8986271 1997
dbSNP: rs137853146
rs137853146
Entrez Id: 9509
Gene Symbol: ADAMTS2
ADAMTS2
CUI: C2700425
Disease:
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE 		A 0.700 CausalMutation CLINVAR The natural history of human dermatosparaxis (Ehlers-Danlos syndrome type VIIC). 7735500 1995
dbSNP: rs137853146
rs137853146
Entrez Id: 9509
Gene Symbol: ADAMTS2
ADAMTS2
CUI: C2700425
Disease:
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE 		A 0.700 CausalMutation CLINVAR Dermatosparaxis in children. A case report and review of the newly recognized phenotype. 8215497 1993
dbSNP: rs137853146
rs137853146
Entrez Id: 9509
Gene Symbol: ADAMTS2
ADAMTS2
CUI: C2700425
Disease:
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE 		A 0.700 CausalMutation CLINVAR Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen. 1642226 1992
dbSNP: rs137853147
rs137853147
Entrez Id: 9509
Gene Symbol: ADAMTS2
ADAMTS2
CUI: C2700425
Disease:
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1554123627
rs1554123627
Entrez Id: 9509
Gene Symbol: ADAMTS2
ADAMTS2
CUI: C2700425
Disease:
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1554125059
rs1554125059
Entrez Id: 9509
Gene Symbol: ADAMTS2
ADAMTS2
CUI: C2700425
Disease:
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE 		TA 0.700 GeneticVariation CLINVAR
dbSNP: rs966437723
rs966437723
Entrez Id: 9509
Gene Symbol: ADAMTS2
ADAMTS2
CUI: C2700425
Disease:
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE 		A 0.700 CausalMutation CLINVAR