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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00069 | Glycogen storage disease | Glycogen storage disease (GSD) is an autosomal recessive (all types except IXa and IXd) or X-linked (types IXa and IXd) disorder with symptoms ranging from weakness to growth abnormalities. GSD is caused ... | Inherited metabolic disorder |
(GSD1A) G6PC1 [HSA:2538] [KO:K01084] (GSD1B/1C) SLC37A4 [HSA:2542] [KO:K08171] (GSD2) GAA [HSA:2548] [KO:K12316] (GSD3) AGL [HSA:178] [KO:K01196] (GSD4) GBE1 [HSA:2632] [KO:K00700] (GSD5) PYGM [HSA:5837] [KO:K00688] (GSD6) PYGL [HSA:5836] [KO:K00688] (GSD7) PFKM [HSA:5213] [KO:K00850] (GSD9A) PHKA2 [HSA:5256] [KO:K07190] (GSD9B) PHKB [HSA:5257] [KO:K07190] (GSD9C) PHKG2 [HSA:5261] [KO:K00871] (GSD9D) PHKA1 [HSA:5255] [KO:K07190] (GSD10) PGAM2 [HSA:5224] [KO:K01834] (GSDXI/FBS) SLC2A2 [HSA:6514] [KO:K07593] (GSD11) LDHA [HSA:3939] [KO:K00016] (GSD12) ALDOA [HSA:226] [KO:K01623] (GSD13) ENO3 [HSA:2027] [KO:K01689] (GSD14) PGM1 [HSA:5236] [KO:K01835] (GSD15) GYG1 [HSA:2992] [KO:K00750] (GSDH) PRKAG2 [HSA:51422] [KO:K07200] (GSD0A) GYS2 [HSA:2998] [KO:K00693] (GSD0B) GYS1 [HSA:2997] [KO:K00693] |
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| H00292 | Hypertrophic cardiomyopathy | ... be the central abnormality. This theory might be supported by the discovery of the role of a mutant PRKAG2 gene in HCM, which in active form acts as a central sensing mechanism protecting cells from depletion ... | 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] |
| H01154 |
Wolff-Parkinson-White (WPW) syndrome Preexcitation syndrome |
... leading to ventricular fibrillation and sudden cardiac death. It was recently discovered that mutations in PRKAG2, that encodes a subunit of the AMP-activated protein kinase, is responsible for WPW syndrome. | Cardiovascular disease | PRKAG2 [HSA:51422] [KO:K07200] | |
| H01956 | Glycogen storage disease of heart | ... is an autosomal dominant disorder of glycogen metabolism. This disease is caused by mutations in the PRKAG2 gene, which encodes gamma-2 subunit of AMPK. It is characterized by fatal infantile cardiomyopathy ... | Inherited metabolic disorder | PRKAG2 [HSA:51422] [KO:K07200] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |