Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		0.700 GermlineCausalMutation ORPHANET Restrictive dermopathy--a lethal congenital laminopathy. Case report and review of the literature. 19020898

2009
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		0.700 GermlineCausalMutation ORPHANET Restrictive dermopathy: a rare laminopathy. 18470519

2008
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		0.700 Biomarker GENOMICS_ENGLAND Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors. 15843403

2005
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		0.700 CausalMutation CLINVAR

Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		0.700 Biomarker CTD_human