ZMPSTE24, zinc metallopeptidase STE24, 10269

N. diseases: 265; N. variants: 11
Disease: Lethal tight skin contracture syndrome (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854889
rs137854889
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
CUI: C0406585
Disease:
Lethal tight skin contracture syndrome (disorder) 		GT 0.700 CausalMutation CLINVAR
dbSNP: rs267607181
rs267607181
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
CUI: C0406585
Disease:
Lethal tight skin contracture syndrome (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs281875360
rs281875360
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
CUI: C0406585
Disease:
Lethal tight skin contracture syndrome (disorder) 		G 0.700 CausalMutation CLINVAR
dbSNP: rs281875361
rs281875361
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
CUI: C0406585
Disease:
Lethal tight skin contracture syndrome (disorder) 		GT 0.700 CausalMutation CLINVAR
dbSNP: rs281875367
rs281875367
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
CUI: C0406585
Disease:
Lethal tight skin contracture syndrome (disorder) 		AT 0.700 CausalMutation CLINVAR
dbSNP: rs786205123
rs786205123
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
CUI: C0406585
Disease:
Lethal tight skin contracture syndrome (disorder) 		C 0.700 CausalMutation CLINVAR