Source: HPO

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: 7137
Gene Symbol: TNNI3
TNNI3 		troponin I3, cardiac type 0.520 0.769 9.6E-02
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		disease 0.700 None 1.000 0 0 2003 2017
Entrez Id: 6710
Gene Symbol: SPTB
SPTB 		spectrin beta, erythrocytic 0.650 0.462 1.00
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		disease 0.100 None 0 0
Entrez Id: 6708
Gene Symbol: SPTA1
SPTA1 		spectrin alpha, erythrocytic 1 0.638 0.538 2.6E-18
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		disease 0.100 None 0 0
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		solute carrier family 4 member 1 (Diego blood group) 0.522 0.731 0.85
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		disease 0.100 None 0 0
Entrez Id: 64132
Gene Symbol: XYLT2
XYLT2 		xylosyltransferase 2 0.566 0.808 0.93
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		disease 0.100 None 0 0
Entrez Id: 64131
Gene Symbol: XYLT1
XYLT1 		xylosyltransferase 1 0.581 0.731 0.92
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		disease 0.100 None 0 0
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1 		ectonucleotide pyrophosphatase/phosphodiesterase 1 0.498 0.808 5.0E-08
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		disease 0.100 None 0 0
Entrez Id: 51604
Gene Symbol: PIGT
PIGT 		phosphatidylinositol glycan anchor biosynthesis class T 0.633 0.615 7.3E-10
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		disease 0.100 None 0 0
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA 		platelet derived growth factor receptor alpha 0.415 0.808 1.00
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		disease 0.100 None 0 0
Entrez Id: 4634
Gene Symbol: MYL3
MYL3 		myosin light chain 3 0.695 0.308 8.8E-02
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		disease 0.100 None 0 0
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6 		ATP binding cassette subfamily C member 6 0.540 0.654 5.6E-35
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		disease 0.100 None 0 0
Entrez Id: 286
Gene Symbol: ANK1
ANK1 		ankyrin 1 0.540 0.885 1.00
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		disease 0.100 None 0 0
Entrez Id: 2038
Gene Symbol: EPB42
EPB42 		erythrocyte membrane protein band 4.2 0.729 0.269 9.9E-09
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		disease 0.100 None 0 0