Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.700 Biomarker disease GENOMICS_ENGLAND Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.700 Biomarker disease GENOMICS_ENGLAND The genetics of dilated cardiomyopathy. 20186049 2010
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		0.700 GermlineCausalMutation disease ORPHANET Restrictive dermopathy--a lethal congenital laminopathy. Case report and review of the literature. 19020898 2009
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.700 GermlineCausalMutation disease ORPHANET Restrictive dermopathy--a lethal congenital laminopathy. Case report and review of the literature. 19020898 2009
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.700 GermlineCausalMutation disease ORPHANET Restrictive dermopathy: a rare laminopathy. 18470519 2008
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		0.700 GermlineCausalMutation disease ORPHANET Restrictive dermopathy: a rare laminopathy. 18470519 2008
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		0.700 Biomarker disease GENOMICS_ENGLAND Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors. 15843403 2005
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.700 Biomarker disease GENOMICS_ENGLAND Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. 11799477 2002
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		0.700 CausalMutation disease CLINVAR
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		0.700 Biomarker disease CTD_human
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.700 Biomarker disease CTD_human
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.700 CausalMutation disease CLINVAR
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 10999
Gene Symbol: SLC27A4
SLC27A4 		0.200 Biomarker disease MGD Mice with targeted disruption of the fatty acid transport protein 4 (Fatp 4, Slc27a4) gene show features of lethal restrictive dermopathy. 12821645 2003
Entrez Id: 10999
Gene Symbol: SLC27A4
SLC27A4 		0.200 Biomarker disease MGD Cloning of wrinkle-free, a previously uncharacterized mouse mutation, reveals crucial roles for fatty acid transport protein 4 in skin and hair development. 12697906 2003
Entrez Id: 10468
Gene Symbol: FST
FST 		0.200 Biomarker disease MGD Multiple defects and perinatal death in mice deficient in follistatin. 7885475 1995