Disease Term Disease ID Gene Symbol Classification References Source
Other restrictive cardiomyopathy C0348616 FLNC Causal Pathogenic evidence from ClinVar 26666891 ClinVar
TNNI3 Causal Pathogenic evidence from ClinVar 12531876 ClinVar
TNNT2 Causal Pathogenic evidence from ClinVar 16651346 ClinVar
KIF20A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29357359 -
MYPN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22286171 -
Restrictive cardiomyopathy C0007196 FLNC Causal Pathogenic evidence from ClinVar 30260051 ClinVar
MYH7 Causal Pathogenic evidence from ClinVar 12707239, 17125710, 18076673, 18380764, 20394946, 20800588, 20818890, 22260945, 23549607, 23690394, 25524337, 25935763, 27532257 ClinVar
TNNI3 Causal Pathogenic evidence from ClinVar 12531876, 15961398, 16531415, 17027633, 17463320, 17599605, 18408133, 19289050, 19449150, 20031618, 20161772, 20800588, 21533915, 22675533, 23906401 ClinVar
TNNT2 Causal Pathogenic evidence from ClinVar 10525521 ClinVar
ABCC6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ANK1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ENPP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
EPB42 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
JAG1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MYL3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PDGFRA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PIGT Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SLC4A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SPTA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SPTB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TMEM87B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27148590 -
XYLT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
XYLT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -