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Entry | Name | Description | Category | Pathway | Gene |
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H00292 | Hypertrophic cardiomyopathy | Hypertrophic cardiomyopathy (HCM/CMH) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological features ... | Cardiovascular disease | hsa05410 Hypertrophic cardiomyopathy |
(CMH1) MYH7 [HSA:4625] [KO:K17751] (CMH1) MYLK2 [HSA:85366] [KO:K00907] (CMH1) CAV3 [HSA:859] [KO:K12959] (CMH2) TNNT2 [HSA:7139] [KO:K12045] (CMH3) TPM1 [HSA:7168] [KO:K10373] (CMH4) MYBPC3 [HSA:4607] [KO:K12568] (CMH6) PRKAG2 [HSA:51422] [KO:K07200] (CMH7) TNNI3 [HSA:7137] [KO:K12044] (CMH8) MYL3 [HSA:4634] [KO:K12749] (CMH9) TTN [HSA:7273] [KO:K12567] (CMH10) MYL2 [HSA:4633] [KO:K10351] (CMH11) ACTC1 [HSA:70] [KO:K12314] (CMH12) CSRP3 [HSA:8048] [KO:K09377] (CMH13) TNNC1 [HSA:7134] [KO:K05865] (CMH14) MYH6 [HSA:4624] [KO:K17751] (CMH15) VCL [HSA:7414] [KO:K05700] (CMH16) MYOZ2 [HSA:51778] [KO:K26050] (CMH17) JPH2 [HSA:57158] [KO:K19530] (CMH18) PLN [HSA:5350] [KO:K05852] (CMH20) NEXN [HSA:91624] [KO:K23918] (CMD1KK/CMH22) MYPN [HSA:84665] [KO:K22028] (CMD1AA/CMH23) ACTN2 [HSA:88] [KO:K21073] (CMD1C/CMH24) LDB3 [HSA:11155] [KO:K19867] (CMH25) TCAP [HSA:8557] [KO:K19879] (CMH26) FLNC [HSA:2318] [KO:K27393] (CMH27) ALPK3 [HSA:57538] [KO:K08868] (CMH28) FHOD3 [HSA:80206] [KO:K23939] (CMH29) KLHL24 [HSA:54800] [KO:K10461] (CMH30) CORIN [HSA:10699] [KO:K09614] |
H00594 | Distal myopathy | Distal myopathies (MPD) are a group of heterogeneous inherited primary muscle disorders classified into one broad category due to the presentation of weakness involving the distal skeletal muscles. Clinical ... | Nervous system disease; Musculoskeletal disease |
(MMD1,DMAT) DYSF [HSA:8291] [KO:K18261] (MMD3) ANO5 [HSA:203859] [KO:K19480] (NM) GNE [HSA:10020] [KO:K12409] (DMRV) SQSTM1 [HSA:8878] [KO:K14381] (WDM) TIA1 [HSA:7072] [KO:K13201] (TMD) TTN [HSA:7273] [KO:K12567] (MPD1) MYH7 [HSA:4625] [KO:K17751] (MPD4) FLNC [HSA:2318] [KO:K27393] (MPD5) ADSS1 [HSA:122622] [KO:K01939] (MPD6) ACTN2 [HSA:88] [KO:K21073] (MPD7) SMPX [HSA:23676] [KO:K24209] (MPDT) CAV3 [HSA:859] [KO:K12959] |
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H00595 | Myofibrillar myopathies | Myofibrillar myopathy (MFM) is a group of genetically distinct disorders linked by common morphologic features observed on muscle histology. MFM is characterized by slowly progressive weakness that can ... | Nervous system disease; Musculoskeletal disease |
(MFM1) DES [HSA:1674] [KO:K07610] (MFM2) CRYAB [HSA:1410] [KO:K09542] (MFM3) MYOT [HSA:9499] [KO:K19875] (MFM4) LDB3 [HSA:11155] [KO:K19867] (MFM5) FLNC [HSA:2318] [KO:K27393] (MFM6) BAG3 [HSA:9531] [KO:K09557] (MFM7) KY [HSA:339855] [KO:K24456] (MFM8) PYROXD1 [HSA:79912] [KO:K24426] (MFM9) TTN [HSA:7273] [KO:K12567] (MFM10) SVIL [HSA:6840] [KO:K10369] (MFM11) UNC45B [HSA:146862] [KO:K21991] (MFM12) MYL2 [HSA:4633] [KO:K10351] |
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H01219 | Restrictive cardiomyopathy | Restrictive cardiomyopathy (RCM) is an uncommon heart muscle disorder characterized by impaired ventricular filling and increased stiffness of the myocardium with diastolic dysfunction, resulting in atrial ... | Cardiovascular disease |
(RCM1) TNNI3 [HSA:7137] [KO:K12044] (RCM3) TNNT2 [HSA:7139] [KO:K12045] (RCM4) MYPN [HSA:84665] [KO:K22028] (RCM5) FLNC [HSA:2318] [KO:K27393] (RCM6) KIF20A [HSA:10112] [KO:K10402] DES [HSA:1674] [KO:K07610] ACTC1 [HSA:70] [KO:K12314] |
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