Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		disease 1.000 None 0.989 4 0 1999 2020
Entrez Id: 7112
Gene Symbol: TMPO
TMPO 		thymopoietin 0.631 0.577 1.5E-07
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		disease 0.520 None 1.000 0 0 2005 2010
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5 		solute carrier family 22 member 5 0.608 0.731 5.3E-16
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		disease 0.500 strong 1.000 1 0 2011 2016
Entrez Id: 1376
Gene Symbol: CPT2
CPT2 		carnitine palmitoyltransferase 2 0.542 0.769 4.6E-10
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		disease 0.320 strong 1.000 1 0 2006 2019
Entrez Id: 3077
Gene Symbol: HFE
HFE 		homeostatic iron regulator 0.436 0.846 2.6E-08
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		disease 0.310 moderate 1.000 1 0 2005 2016
Entrez Id: 5096
Gene Symbol: PCCB
PCCB 		propionyl-CoA carboxylase subunit beta 0.695 0.577 1.5E-08
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		disease 0.310 strong 1.000 1 0 2016 2017
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		disease 0.300 limited 1.000 1 0 2016 2016
Entrez Id: 5095
Gene Symbol: PCCA
PCCA 		propionyl-CoA carboxylase subunit alpha 0.682 0.538 3.1E-15
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		disease 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC 		metabolism of cobalamin associated C 0.644 0.615 1.1E-13
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		disease 0.300 moderate 1.000 1 0 2016 2016
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		methylmalonyl-CoA mutase 0.534 0.731 1.7E-22
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		disease 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 57104
Gene Symbol: PNPLA2
PNPLA2 		patatin like phospholipase domain containing 2 0.511 0.846 4.1E-03
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		disease 0.300 strong 0 0