Glycogen storage disease

Disease Term Disease ID Gene Symbol References
Glycogen Storage Disease C0017919 AGL 8990006, 9412782, 26984562, 25602008, 27604308
ALDOA 7331996, 27604308, 8598869
ENO3
FBP1 27604308
G6PC1 27604308, 15316959, 8211187
SLC37A4 10323254, 27604308, 10923042, 9758626
GAA 25356970, 26231297, 17616415, 25526786, 21439876, 23884227, 24150945, 28433475, 21757382, 24444888, 17210890, 21232767, 23430493, 21471980, 24008051, 20202878, 16917947, 19790257, 19862843, 25093132, 25213570, 8558570, 27099502, 7717400, 18458862, 7881425, 9535769, 7981676, 27363342, 17092519
GBE1 27604308
GYG1 20357282
GYS1
GYS2 20051115, 27604308, 9691087
LAMP2
LDHA 27604308, 6517049
PFKL
PFKM 8880699, 8037209, 9389749
PGAM2
PGK1
PGM1 27604308, 27206562
PHKA2 27604308, 7711737
PHKB 27604308
PHKG2 27604308
PYGL 27604308
PYGM
EPM2A
FBP2
GYG2 25751106
TRAPPC4 9758626, 10923042, 10323254
NHLRC1
Glycogen Storage Disease Type III C0017922 AGL 23430941, 15542399, 19951495, 25827695, 22035446, 18617770, 11977176, 20071996, 10655153, 24824133, 19834502, 8755644, 8990006, 25451950, 29614965, 12955720, 18924225, 16705713, 26984562, 11378828, 25388549, 19951465, 11924557, 26885414, 18785866, 16189622, 27604308, 17994282, 10472540, 9490286, 23207808, 21691223, 11949933, 17895567, 20648714, 21321962, 8702417, 27106217, 9584265, 17047887, 12442284, 24257475, 29374762, 19299494, 11757581, 20490926, 15833157, 17908927, 23430490, 24495762, 22089644, 9412782, 25451272, 23062577, 10925384, 24700805, 10571954, 19754354, 23430832, 10982190, 25431232, 22899091, 9332391
GBE1
Glycogen Storage Disease IIIA C1968739 AGL 23507172, 16705713, 22035446, 22899091, 27460348, 23430490, 12442284, 23062577, 8990006, 20648714, 26913919
Glycogen Storage Disease IIIB C1968740 AGL 20526204, 8755644, 20648714, 20490926
Glycogen Storage Disease IIIC C1968741 AGL
GAA 4286143, 16860134, 9535769, 7981676, 17056254, 14643388, 7717400, 9668092, 11991748, 20882352, 3108320, 19588081, 10973860, 8094613, 21484825, 1856189
Amylo-1,6-glucosidase deficiency C2936915 AGL 17908927, 10571954
Glycogen Storage Disease XII C0272066 ALDOA 2825199, 8598869, 14766013, 2229018, 27604308, 14615364, 7331996
Glycogen Storage Disease Type V C0017924 ACE 12666117
PYGM 25240406, 17324573, 11749054, 25740218, 10899452, 12508303, 15979037, 9506549, 10714589, 9131647, 8279469, 12031624, 11706962, 10590419, 18380285, 14568816, 21802952, 8316268, 28967462, 7951211, 21880526, 7603523, 9674815, 17994553, 25873271, 11168025, 29143597, 17630210, 25045239, 9633816, 19232494, 12666117, 17221871, 10681080, 17404776, 16786513, 17705025, 19472443, 23653251, 10417800, 18162322, 14748827, 26913921, 8535454, 22250184, 7951262, 10382912, 25914343, 18067156, 14638972, 17172620, 7664468, 25741863, 10382911, 19670320, 19251976, 12929201, 27604308, 18641458, 22832773, 22730558, 14722619, 22818872
Glycogen Storage Disease XIII C2752027 ENO3 11506403, 25267339
Glycogen Storage Disease Type I C0017920 G6PC1 10960498, 10070617, 10447271, 7623438, 8733042, 12373566, 10094563, 7655466, 10738005, 10612834, 15316959, 27604308, 9700612, 11058903, 15151508, 7573034, 8182131, 11058910, 10874313, 9332655, 15542400, 10748407, 8211187, 9001800, 9506659, 9700613
SLC37A4 27604308
Glycogen storage disease type Ia C2919796 G6PC1 25308557, 15542400, 11739393, 10960498, 28397058, 10447271, 10748407, 17994282, 8734807, 21599942, 23046672, 7744838, 10070617, 19762333, 10234610, 22899091, 25333069, 8211187, 24385852, 10612834, 7573034, 10944847, 23352793, 19541498, 23486339, 24565827, 21983240, 18449899, 11596659, 10874313, 7623438, 7525963, 18008183, 15316959, 28659124, 7668282, 9705299, 11949931, 24082139, 23000067, 10834516, 8733042, 12373566, 8182131, 10094563, 9332655, 12093795, 15455297, 23312056, 9001800, 10738525, 28360385, 16435186, 7814621, 7655466, 9630072, 10797430, 11386847, 10604148, 11058903, 24980439, 11161844, 11310582, 9359038, 11916325, 18083610
GLYCOGEN STORAGE DISEASE Ic C0342749 SLC37A4 9758626, 27604308, 10482962
TRAPPC4
Glycogen storage disease type II C0017921 GAA 16433701, 11071489, 25741864, 22081099, 17805474, 21757382, 26310554, 22538254, 7881422, 14972326, 20202878, 22958975, 24715333, 22676651, 22980766, 21920843, 19790257, 28394184, 10189220, 21982629, 8401535, 10528311, 10338092, 20472203, 20882352, 15121988, 23843830, 24444888, 19609281, 22194990, 25614309, 21039225, 14695532, 26160551, 9660056, 18176891, 23825616, 3865697, 21676566, 28592009, 10973860, 11738358, 17041744, 24107549, 22658377, 21704464, 18505979, 29451150, 17723315, 25052852, 9529346, 14643388, 18458862, 26575883, 24495340, 12923862, 17027861, 25712382, 16917947, 9535769, 15366815, 17573812, 22613277, 26497565, 16580018, 20350966, 24844452, 15048888, 8834250, 11991748, 27099502, 19588081, 25036864, 10737124, 9554747, 15668445, 21984055, 25626711, 17643989, 1856189, 23013746, 29124014, 10206684, 22027144, 22644586, 8094613, 21687968, 24383498, 9668092, 28648663, 27604308, 21484825, 18757064, 27142047, 21972175, 16838077, 23884227, 24016645, 23601496, 23787031, 23000108, 8558570, 17092519, 27170567, 11328962, 27344650, 1652892, 17056254, 26199952, 8604985, 21550241, 19775921, 7981676, 20638881, 21889385, 19948615, 18425781, 7717400, 16478160, 20080426, 25681614, 25213570, 21228398, 12601120, 20830524, 20817528, 27711114, 28450385, 20308911, 21109266, 22252923, 7695647, 8435067, 16782080, 15501829, 23430493, 1898413, 15145338, 1895140, 18285536, 30510819, 21439876, 12897283, 19343043, 28490439, 27708273, 24923245, 7881425, 22555271, 18607768, 21637107, 23146291, 24976573, 29122469, 27189384, 25526786, 24150945, 7603530, 25037089, 16860134, 25243733, 24269976, 18211760, 25687635, 21926084, 11053688, 20826098, 7866409, 31076647, 1684505, 30023291, 21644219, 25673129, 9521422, 21232767, 17616415, 9950376, 25455803, 25093132, 24158270, 18995995, 11854868, 21963784, 18495398, 29181627, 2252923, 21471980, 16531044, 19862843, 25783438, 21940687, 17210890, 15986226, 22521436, 10377006, 9259196, 16702877, 26572913, 25466677, 27649523, 18429042, 21605996, 24169249, 4286143, 28032299, 5614309, 25139343, 17213836, 21179066, 3049072, 25488666, 25388776, 25409744, 23266370, 25103075, 24590251, 25155446, 8990003, 25998610, 23430949, 15466083, 24245577, 27183828, 22196155, 26231297, 24513544, 28196920, 26031770, 23350563, 3108320, 23402890, 22704482, 24337590, 2510307, 23430847, 21216089, 23632174, 28657663, 25026126, 21803581, 24190153
TNNT2 26787432
Generalized glycogen storage disease of infants C0342751 GAA 15466083, 11328962, 21644219, 18176891, 21963784
TNNT2 26787432
Adult Glycogen Storage Disease Type II C0751172 GAA 15466083, 11328962, 21963784, 21644219, 18176891
TNNT2 26787432
Glycogen Storage Disease Type II, Infantile C0751173 GAA 21644219, 15466083, 21963784, 11328962, 18176891
TNNT2 26787432
Glycogen Storage Disease Type II, Juvenile C0751174 GAA 18176891, 21963784, 15466083, 21644219, 11328962
TNNT2 26787432
Glycogen Storage Disease Type IV C0017923 GBE1 21620786, 20058079, 15452297, 12913206, 25665141, 17994551, 23034915, 10545044, 26199317, 10762170, 17915577, 15520786, 8613547, 25728520, 26886200, 23137060, 26166723, 23218673, 19813197, 21917543, 28507268, 19438752, 9851430, 27604308, 26385640, 20655781, 22106711, 24248152, 25489661
RBCK1
GSD IV, Neuromuscular Form, Fatal Perinatal C1856303 GBE1
GSD IV, Neuromuscular Form, Childhood C1856305 GBE1
GLYCOGEN STORAGE DISEASE XV C3150754 GYG1 25272951, 22160680, 26652229, 20357282, 27718144, 26255073
Glycogen Storage Disease 0, Muscle C1969054 GYS1 17928598, 21958591, 24579562
Glycogen Storage Disease 0, Liver C1855861 GYS2 9691087, 12072888, 27604308, 20051115, 25070466, 28245189
Glycogen Storage Disease Type IIb C0878677 LAMP2 15253947, 27532257, 15673802, 22695892, 15889279, 24222494, 27604308, 19318653, 16604439, 26835038, 18061453, 7488019, 18312451, 27678261, 18990578, 21415759, 10972294, 10972293, 18282207, 22074992, 19373884, 21896538, 15907287, 27179547, 16217705, 20445193, 15792868, 25458169, 18555174, 12084876, 16565504, 10448712, 14598234
Glycogen Storage Disease Type VII C0017926 PFKM 8444874, 8889589, 7825568, 7513946, 26108272, 2140573, 8880699, 22133655, 8037209, 24427140, 27604308, 7603526
Glycogen storage disease type X C0268149 PGAM2 8447317, 27612597, 10545043, 28779239, 19273759
DBNL 27612597, 8447317
Glycogen Storage Disease XIV C2752015 PGM1 27206562, 24499211, 22492991, 19625727, 27604308, 25288802, 26972339, 22976764
ITGB3BP
Glycogen Storage Disease, Type IXD C1845151 PHKA1 15637709, 7874115, 12825073, 27604308
PHKG1
Glycogen Storage Disease, Type IXA2 C2748941 PHKA2
PHKA2-AS1
Glycogen Storage Disease IXC C2751643 PHKA2
PHKG2 12930917, 8896567, 9245685, 27604308
GLYCOGEN STORAGE DISEASE IXa1 C3694531 PHKA2 21646031, 12862311, 10330341, 28468868, 25070466, 21911307, 8733134, 28627441, 7847371, 17689125, 28600779, 23578772, 22899091, 27103379, 8733133, 9835437, 7549948, 9600238, 25266922, 7959740, 24055370, 27604308, 7711737
PHKA2-AS1 28468868, 7959740, 22899091, 21646031, 8733133, 21911307, 24055370
Glycogen storage disease, type IX C0268147 PHKB 9215682
Glycogen Storage Disease IXB C0543514 PHKB 9215682, 27604308, 25070466, 21646031, 9402963
Glycogen Storage Disease Type VI C0017925 PYGL 22899091, 9529348, 9536091, 27604308, 21646031, 25266922
Glycogen Storage Disease of Heart, Lethal Congenital C1849813 PRKAG2 25997934, 23992123, 27604308, 26085771, 18403758, 14722619, 27621313, 16836667, 15877279, 17667862, 15673802, 20031621, 11748095, 25611685, 27573176, 194200, 15611370
Glycogen storage disease due to glycogen debranching enzyme deficiency 366 AGL
Glycogen storage disease due to muscle glycogen phosphorylase deficiency 368 PYGM
Glycogen storage disease due to muscle phosphofructokinase deficiency 371 PFKM
Glycogen storage disease due to liver glycogen phosphorylase deficiency 369 PYGL
Glycogen storage disease due to muscle phosphorylase kinase deficiency 715 PHKA1
PHKG1
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 713 PGK1
Glycogen storage disease due to aldolase A deficiency 57 ALDOA
Glycogen storage disease due to muscle and heart glycogen synthase deficiency 137625 GYS1
Glycogen storage disease due to liver phosphorylase kinase deficiency 264580 PHKA2
PHKG2
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 284426 LDHA
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency 284435 LDHB
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form 308698 GBE1
Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form 308712 GBE1
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form 308670 GBE1
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form 308684 GBE1
Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form 308655 GBE1
Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form 308638 GBE1
Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form 308621 GBE1
Glycogen storage disease due to LAMP-2 deficiency 34587 LAMP2
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib 79259 SLC37A4
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency 79240 PHKB
Glycogen storage disease due to phosphoglycerate mutase deficiency 97234 PGAM2
Glycogen storage disease due to acid maltase deficiency, infantile onset C3888924, 308552 GAA
Glycogen storage disease due to acid maltase deficiency, late-onset 420429 GAA
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia 79258 G6PC1
Glycogen storage disease due to hepatic glycogen synthase deficiency 2089 GYS2
Glycogen storage disease due to muscle beta-enolase deficiency 99849 ENO3
GSD IV, Classic Hepatic C1856301 GBE1 23034915, 26199317, 23218673, 15520786, 26385640, 20655781, 12913206, 8613547, 24248152, 20058079, 9851430, 25665141, 19813197, 17915577, 21917543, 26166723, 15452297, 10762170