Search Result

 Top
1 to 7 of 7
Entry Name Description Category Pathway Gene
H00120 Muscular dystrophy-dystroglycanopathy type A Muscular dystrophies due to reduced glycosylation of alpha-dystroglycan have emerged as a common group of conditions, now referred to as dystroglycanopathies. The phenotypic severity of dystroglycanopathy ... Inherited metabolic disorder (MDDGA1) POMT1 [HSA:10585] [KO:K00728]
(MDDGA2) POMT2 [HSA:29954] [KO:K00728]
(MDDGA3) POMGNT1 [HSA:55624] [KO:K09666]
(MDDGA4) FKTN [HSA:2218] [KO:K19872]
(MDDGA5) FKRP [HSA:79147] [KO:K19873]
(MDDGA6) LARGE [HSA:9215] [KO:K09668]
(MDDGA7) CRPPA [HSA:729920] [KO:K21031]
(MDDGA8) POMGNT2 [HSA:84892] [KO:K18207]
(MDDGA9) DAG1 [HSA:1605] [KO:K06265]
(MDDGA10) RXYLT1 [HSA:10329] [KO:K21052]
(MDDGA11) B3GALNT2 [HSA:148789] [KO:K09654]
(MDDGA12) POMK [HSA:84197] [KO:K17547]
(MDDGA13) B4GAT1 [HSA:11041] [KO:K21032]
(MDDGA14) GMPPB [HSA:29925] [KO:K00966]
H00294 Dilated cardiomyopathy Dilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac death ... Cardiovascular disease hsa05414 Dilated cardiomyopathy (CMD1A) LMNA [HSA:4000] [KO:K12641]
(CMD1C) LDB3 [HSA:11155] [KO:K19867]
(CMD1D) TNNT2 [HSA:7139] [KO:K12045]
(CMD1E) SCN5A [HSA:6331] [KO:K04838]
(CMD1G) TTN [HSA:7273] [KO:K12567]
(CMD1I) DES [HSA:1674] [KO:K07610]
(CMD1J) EYA4 [HSA:2070] [KO:K17622]
(CMD1L) SGCD [HSA:6444] [KO:K12563]
(CMD1M) CSRP3 [HSA:8048] [KO:K09377]
(CMD1N) TCAP [HSA:8557] [KO:K19879]
(CMD1O) ABCC9 [HSA:10060] [KO:K05033]
(CMD1P) PLN [HSA:5350] [KO:K05852]
(CMD1R) ACTC1 [HSA:70] [KO:K12314]
(CMD1S) MYH7 [HSA:4625] [KO:K17751]
(CMD1U) PSEN1 [HSA:5663] [KO:K04505]
(CMD1V) PSEN2 [HSA:5664] [KO:K04522]
(CMD1W) VCL [HSA:7414] [KO:K05700]
(CMD1X) FKTN [HSA:2218] [KO:K19872]
(CMD1Y) TPM1 [HSA:7168] [KO:K10373]
(CMD1Z) TNNC1 [HSA:7134] [KO:K05865]
(CMD1AA) ACTN2 [HSA:88] [KO:K21073]
(CMD1BB) DSG2 [HSA:1829] [KO:K07597]
(CMD1CC) NEXN [HSA:91624] [KO:K23918]
(CMD1DD) RBM20 [HSA:282996] [KO:K24052]
(CMD1EE) MYH6 [HSA:4624] [KO:K17751]
(CMD1FF/CMD2A) TNNI3 [HSA:7137] [KO:K12044]
(CMD1GG) SDHA [HSA:6389] [KO:K00234]
(CMD1HH) BAG3 [HSA:9531] [KO:K09557]
(CMD1II) CRYAB [HSA:1410] [KO:K09542]
(CMD1JJ) LAMA4 [HSA:3910] [KO:K06241]
(CMD1KK) MYPN [HSA:84665] [KO:K22028]
(CMD1LL) PRDM16 [HSA:63976] [KO:K22410]
(CMD1MM) MYBPC3 [HSA:4607] [KO:K12568]
(CMD1NN) RAF1 [HSA:5894] [KO:K04366]
(CMD1OO) VEZF1 [HSA:7716] [KO:K26610]
(CMD2B) GATAD1 [HSA:57798] [KO:K23407]
(CMD2C) PPCS [HSA:79717] [KO:K01922]
(CMD2D) RPL3L [HSA:6123] [KO:K02925]
(CMD2E) JPH2 [HSA:57158] [KO:K19530]
(CMD2F) BAG5 [HSA:9529] [KO:K09559]
(CMD2G) LMOD2 [HSA:442721] [KO:K22030]
(CMD2H) GET3 [HSA:439] [KO:K01551]
(CMD2I) CAP2 [HSA:10486] [KO:K17261]
(CMD2J) FLII [HSA:2314] [KO:K27496]
(CMD3B) DMD [HSA:1756] [KO:K10366]
(BTHS) TAZ [HSA:6901] [KO:K13511]
HLA-DRB1 [HSA:3123] [KO:K06752]
HLA-DPA1 [HSA:3113] [KO:K06752]
HLA-DPB1 [HSA:3115] [KO:K06752]
HLA-DQA1 [HSA:3117] [KO:K06752]
HLA-DQB1 [HSA:3119] [KO:K06752]
H00593 Limb-girdle muscular dystrophy Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of inherited disorders characterized by progressive muscle weakness that begins from the proximal limb muscles. The disease is not congenital ... Nervous system disease; Musculoskeletal disease (LGMDD1) DNAJB6 [HSA:10049] [KO:K09512]
(LGMDD2) TNPO3 [HSA:23534] [KO:K15436]
(LGMDD3) HNRNPDL [HSA:9987] [KO:K13044]
(LGMDD4/R1) CAPN3 [HSA:825] [KO:K08573]
(LGMDR2) DYSF [HSA:8291] [KO:K18261]
(LGMDR3) SGCA [HSA:6442] [KO:K12565]
(LGMDR4) SGCB [HSA:6443] [KO:K12566]
(LGMDR5) SGCG [HSA:6445] [KO:K12564]
(LGMDR6) SGCD [HSA:6444] [KO:K12563]
(LGMDR7) TCAP [HSA:8557] [KO:K19879]
(LGMDR8) TRIM32 [HSA:22954] [KO:K10607]
(LGMDR9) FKRP [HSA:79147] [KO:K19873]
(LGMDR10) TTN [HSA:7273] [KO:K12567]
(LGMDR11) POMT1 [HSA:10585] [KO:K00728]
(LGMDR12) ANO5 [HSA:203859] [KO:K19480]
(LGMDR13) FKTN [HSA:2218] [KO:K19872]
(LGMDR14) POMT2 [HSA:29954] [KO:K00728]
(LGMDR15) POMGNT1 [HSA:55624] [KO:K09666]
(LGMDR16) DAG1 [HSA:1605] [KO:K06265]
(LGMDR17) PLEC [HSA:5339] [KO:K10388]
(LGMDR18) TRAPPC11 [HSA:60684] [KO:K20308]
(LGMDR19) GMPPB [HSA:29925] [KO:K00966]
(LGMDR20) CRPPA [HSA:729920] [KO:K21031]
(LGMDR21) POGLUT1 [HSA:56983] [KO:K13667]
(LGMDR23) LAMA2 [HSA:3908] [KO:K05637]
(LGMDR24) POMGNT2 [HSA:84892] [KO:K18207]
(LGMDR25) BVES [HSA:11149] [KO:K21108]
(LGMDR26) POPDC3 [HSA:64208] [KO:K26207]
(LGMDR27) JAG2 [HSA:3714] [KO:K21635]
(LGMDR28) HMGCR [HSA:3156] [KO:K00021]
(MDRCMTT) LIMS2 [HSA:55679] [KO:K23354]
(MRRSDC) TOR1AIP1 [HSA:26092] [KO:K23001]
H01957 Fukuyama congenital muscular dystrophy Fukuyama congenital muscular dystrophy (FCMD) is one of the most common autosomal recessive disorders in Japan. It is characterized by severe muscular dystrophy associated with brain malformation. FCMD ... Inherited metabolic disorder FKTN [HSA:2218] [KO:K19872]
H01959 Muscular dystrophy-dystroglycanopathy type C Muscular dystrophies due to reduced glycosylation of alpha-dystroglycan have emerged as a common group of conditions, now referred to as dystroglycanopathies. The phenotypic severity of dystroglycanopathy ... Inherited metabolic disorder (MDDGC1) POMT1 [HSA:10585] [KO:K00728]
(MDDGC2) POMT2 [HSA:29954] [KO:K00728]
(MDDGC3) POMGNT1 [HSA:55624] [KO:K09666]
(MDDGC4) FKTN [HSA:2218] [KO:K19872]
(MDDGC5) FKRP [HSA:79147] [KO:K19873]
(MDDGC7) CRPPA [HSA:729920] [KO:K21031]
(MDDGC8) POMGNT2 [HSA:84892] [KO:K18207]
(MDDGC9) DAG1 [HSA:1605] [KO:K06265]
(MDDGC12) POMK [HSA:84197] [KO:K17547]
(MDDGC14) GMPPB [HSA:29925] [KO:K00966]
(MDDGC15) DPM3 [HSA:54344] [KO:K09659]
H01960 Muscular dystrophy-dystroglycanopathy type B Muscular dystrophies due to reduced glycosylation of alpha-dystroglycan have emerged as a common group of conditions, now referred to as dystroglycanopathies. The phenotypic severity of dystroglycanopathy ... Inherited metabolic disorder (MDDGB1) POMT1 [HSA:10585] [KO:K00728]
(MDDGB2) POMT2 [HSA:29954] [KO:K00728]
(MDDGB3) POMGNT1 [HSA:55624] [KO:K09666]
(MDDGB4) FKTN [HSA:2218] [KO:K19872]
(MDDGB5/MDC1C) FKRP [HSA:79147] [KO:K19873]
(MDDGB6/MDC1D) LARGE1 [HSA:9215] [KO:K09668]
(MDDGB14) GMPPB [HSA:29925] [KO:K00966]
(MDDGB15) DPM3 [HSA:54344] [KO:K09659]
H02307 Muscular dystrophy-dystroglycanopathy Muscular dystrophies due to reduced glycosylation of alpha-dystroglycan have emerged as a common group of conditions, now referred to as dystroglycanopathies. The phenotypic severity of dystroglycanopathy ... Inherited metabolic disorder POMT1 [HSA:10585] [KO:K00728]
POMT2 [HSA:29954] [KO:K00728]
POMGNT1 [HSA:55624] [KO:K09666]
FKTN [HSA:2218] [KO:K19872]
FKRP [HSA:79147] [KO:K19873]
LARGE [HSA:9215] [KO:K09668]
ISPD [HSA:729920] [KO:K21031]
GTDC2 [HSA:84892] [KO:K18207]
DAG1 [HSA:1605] [KO:K06265]
TMEM5 [HSA:10329] [KO:K21052]
B3GALNT2 [HSA:148789] [KO:K09654]
POMK [HSA:84197] [KO:K17547]
B3GNT1 [HSA:11041] [KO:K21032]
GMPPB [HSA:29925] [KO:K00966]
1 to 7 of 7
[ KEGG | DISEASE | DRUG | MEDICUS ]