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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]
H00119 Congenital disorders of glycosylation type II Congenital disorders of glycosylation (CDG) are a group of disorders caused by defects in various genes for N-glycan biosynthesis. CDG-II is defined by mutations in genes encoding enzymes in the processing ... Inherited metabolic disorder (CDG2A) MGAT2 [HSA:4247] [KO:K00736]
(CDG2B) GCS1 [HSA:7841] [KO:K01228]
(CDG2C) SLC35C1 [HSA:55343] [KO:K15279]
(CDG2D) B4GALT1 [HSA:2683] [KO:K07966]
(CDG2E) COG7 [HSA:91949] [KO:K20294]
(CDG2F) SLC35A1 [HSA:10559] [KO:K15272]
(CDG2G) COG1 [HSA:9382] [KO:K20288]
(CDG2H) COG8 [HSA:84342] [KO:K20295]
(CDG2I) COG5 [HSA:10466] [KO:K20292]
(CDG2J) COG4 [HSA:25839] [KO:K20291]
(CDG2K) TMEM165 [HSA:55858] [KO:K23541]
(CDG2L) COG6 [HSA:57511] [KO:K20293]
(CDG2M) SLC35A2 [HSA:7355] [KO:K15272]
(CDG2N) SLC39A8 [HSA:64116] [KO:K14714]
(CDG2O) CCDC115 [HSA:84317] [KO:K23543]
(CDG2P) TMEM199 [HSA:147007] [KO:K23542]
(CDG2Q) COG2 [HSA:22796] [KO:K20289]
(CDG2R) ATP6AP2 [HSA:10159] [KO:K19514]
(CDG2S) ATP6AP1 [HSA:537] [KO:K03662]
(CDG2T) GALNT2 [HSA:2590] [KO:K00710]
(CDG2V) EDEM3 [HSA:80267] [KO:K10086]
(CDG2W) SLC37A4 [HSA:2542] [KO:K08171]
(CDG2Y) GET4 [HSA:51608] [KO:K23387]
(CDG2Z) CAMLG [HSA:819] [KO:K22385]
(CDG2AA) STX5 [HSA:6811] [KO:K08490]
(CDG2BB) COG3 [HSA:83548] [KO:K20290]
H01760 Hepatic glycogen storage disease Glycogen storage diseases (GSD) are inherited metabolic disorders of glycogen metabolism. They are divided into types 0 to XV, according to enzyme or transporter deficiency and organ distribution. The ... Inherited metabolic disorder (GSB Ia) G6PC [HSA:2538] [KO:K01084]
(GSB Ib) SLC37A4 [HSA:2542] [KO:K08171]
(GSB IIIa/b) AGL [HSA:178] [KO:K01196]
(GSB IV) GBE1 [HSA:2632] [KO:K00700]
(GSB VI) PYGL [HSA:5836] [KO:K00688]
(GSB IX) PHKA2 [HSA:5256] [KO:K07190]
(GSB IXb) PHKB [HSA:5257] [KO:K07190]
(GSB IXc) PHKG2 [HSA:5261] [KO:K00871]
(GSB 0a) GYS2 [HSA:2998] [KO:K00693]
H01939 Glycogen storage disease type I
Von Gierke disease 		Glycogen storage disease type I (GSD-I), also known as von Gierke disease, is an autosomal recessive disorder caused by a deficiency in microsomal glucose-6-phosphatase (G6Pase) activity. There are four ... Inherited metabolic disorder (GSD Ia) G6PC [HSA:2538] [KO:K01084]
(GSD Ib/Ic/Id) SLC37A4 [HSA:2542] [KO:K08171]
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