Source: CLINVAR

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: 387119
Gene Symbol: CEP85L
CEP85L 		centrosomal protein 85 like 0.656 0.423 4.5E-09
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.100 None 1.000 6 1 2003 2013
Entrez Id: 23203
Gene Symbol: PMPCA
PMPCA 		peptidase, mitochondrial processing subunit alpha 0.633 0.577 3.4E-11
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.100 None 0 2
Entrez Id: 846
Gene Symbol: CASR
CASR 		calcium sensing receptor 0.410 0.846 4.7E-02
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.100 None 0 1
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5 		solute carrier family 22 member 5 0.608 0.731 5.3E-16
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.100 None 0 1