Glycogen storage disease

Disease Term Disease ID Gene Symbol Classification References Source
Amylo-1,6-glucosidase deficiency C2936915 AGL Causal Pathogenic evidence from ClinVar 10571954, 17908927 ClinVar
Glycogen Storage Disease C0017919 AGL Causal Pathogenic evidence from ClinVar 8990006, 9412782, 25602008, 26984562, 27604308 ClinVar
G6PC1 Causal Pathogenic evidence from ClinVar 8211187, 15316959, 27604308 ClinVar
GAA Causal Pathogenic evidence from ClinVar 7717400, 7881425, 7981676, 8558570, 9535769, 16917947, 17092519, 17210890, 17616415, 18458862, 19790257, 19862843, 20202878, 21232767, 21439876, 21471980, 21757382, 23430493, 23884227, 24008051, 24150945, 24444888, 25093132, 25213570, 25356970, 25526786, 26231297, 27099502, 27363342, 28433475 ClinVar
GBE1 Causal Pathogenic evidence from ClinVar 27604308 ClinVar
GYG1 Causal Pathogenic evidence from ClinVar 20357282 ClinVar
GYS1 Causal Pathogenic evidence from ClinVar - ClinVar
GYS2 Causal Pathogenic evidence from ClinVar 9691087, 20051115, 27604308 ClinVar
PFKM Causal Pathogenic evidence from ClinVar 8037209, 8880699, 9389749 ClinVar
PGAM2 Causal Pathogenic evidence from ClinVar - ClinVar
PGK1 Causal Pathogenic evidence from ClinVar - ClinVar
Glycogen storage disease due to glycogen debranching enzyme deficiency 366 AGL Causal Pathogenic evidence from ClinVar - ClinVar
Glycogen Storage Disease IIIA C1968739 AGL Causal Pathogenic evidence from ClinVar 8990006, 12442284, 16705713, 20648714, 22035446, 22899091, 23062577, 23430490, 23507172, 26913919, 27460348 ClinVar
Glycogen Storage Disease IIIB C1968740 AGL Causal Pathogenic evidence from ClinVar 8755644, 20490926, 20526204, 20648714 ClinVar
Glycogen Storage Disease IIIC C1968741 AGL Causal Pathogenic evidence from ClinVar - ClinVar
GAA Causal Pathogenic evidence from ClinVar 1856189, 3108320, 4286143, 7717400, 7981676, 8094613, 9535769, 9668092, 10973860, 11991748, 14643388, 16860134, 17056254, 19588081, 20882352, 21484825 ClinVar
Glycogen Storage Disease Type III C0017922 AGL Causal Pathogenic evidence from ClinVar 8702417, 8755644, 8990006, 9332391, 9412782, 9490286, 9584265, 10472540, 10571954, 10655153, 10925384, 10982190, 11378828, 11757581, 11924557, 11949933, 11977176, 12442284, 12955720, 15542399, 15833157, 16189622, 16705713, 17047887, 17895567, 17908927, 17994282, 18617770, 18785866, 18924225, 19299494, 19754354, 19834502, 19951465, 19951495, 20071996, 20490926, 20648714, 21321962, 21691223, 22035446, 22089644, 22899091, 23062577, 23207808, 23430490, 23430832, 23430941, 24257475, 24495762, 24700805, 24824133, 25388549, 25431232, 25451272, 25451950, 25827695, 26885414, 26984562, 27106217, 27604308, 29374762, 29614965 ClinVar
GBE1 Causal Pathogenic evidence from ClinVar - ClinVar
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia 79258 G6PC1 Causal Pathogenic evidence from ClinVar - ClinVar
Glycogen Storage Disease Type I C0017920 G6PC1 Causal Pathogenic evidence from ClinVar 7573034, 7623438, 7655466, 8182131, 8211187, 8733042, 9001800, 9332655, 9506659, 9700612, 9700613, 10070617, 10094563, 10447271, 10612834, 10738005, 10748407, 10874313, 10960498, 11058903, 11058910, 12373566, 15151508, 15316959, 15542400, 27604308 ClinVar
Glycogen storage disease type Ia C2919796 G6PC1 Causal Pathogenic evidence from ClinVar 7525963, 7573034, 7623438, 7655466, 7668282, 7744838, 7814621, 8182131, 8211187, 8733042, 8734807, 9001800, 9332655, 9359038, 9630072, 9705299, 10070617, 10094563, 10234610, 10447271, 10604148, 10612834, 10738525, 10748407, 10797430, 10834516, 10874313, 10944847, 10960498, 11058903, 11161844, 11310582, 11386847, 11596659, 11739393, 11916325, 11949931, 12093795, 12373566, 15316959, 15455297, 15542400, 16435186, 17994282, 18008183, 18083610, 18449899, 19541498, 19762333, 21599942, 21983240, 22899091, 23000067, 23046672, 23312056, 23352793, 23486339, 24082139, 24385852, 24565827, 24980439, 25308557, 25333069, 28360385, 28397058, 28659124 ClinVar
Adult Glycogen Storage Disease Type II C0751172 GAA Causal Pathogenic evidence from ClinVar 11328962, 15466083, 18176891, 21644219, 21963784 ClinVar
Generalized glycogen storage disease of infants C0342751 GAA Causal Pathogenic evidence from ClinVar 11328962, 15466083, 18176891, 21644219, 21963784 ClinVar
Glycogen storage disease due to acid maltase deficiency, infantile onset 308552, C3888924 GAA Causal Pathogenic evidence from ClinVar - ClinVar
Glycogen storage disease due to acid maltase deficiency, late-onset 420429 GAA Causal Pathogenic evidence from ClinVar - ClinVar
Glycogen storage disease type II C0017921 GAA Causal Pathogenic evidence from ClinVar 1652892, 1684505, 1856189, 1895140, 1898413, 2252923, 2510307, 3049072, 3108320, 3865697, 4286143, 5614309, 7603530, 7695647, 7717400, 7866409, 7881422, 7881425, 7981676, 8094613, 8401535, 8435067, 8558570, 8604985, 8834250, 8990003, 9259196, 9521422, 9529346, 9535769, 9554747, 9660056, 9668092, 9950376, 10189220, 10206684, 10338092, 10377006, 10528311, 10737124, 10973860, 11053688, 11071489, 11328962, 11738358, 11854868, 11991748, 12601120, 12897283, 12923862, 14643388, 14695532, 14972326, 15048888, 15121988, 15145338, 15366815, 15466083, 15501829, 15668445, 15986226, 16433701, 16478160, 16531044, 16580018, 16702877, 16782080, 16838077, 16860134, 16917947, 17027861, 17041744, 17056254, 17092519, 17210890, 17213836, 17573812, 17616415, 17643989, 17723315, 17805474, 18176891, 18211760, 18285536, 18425781, 18429042, 18458862, 18495398, 18505979, 18607768, 18757064, 18995995, 19343043, 19588081, 19609281, 19775921, 19790257, 19862843, 19948615, 20080426, 20202878, 20308911, 20350966, 20472203, 20638881, 20817528 ClinVar
Glycogen Storage Disease Type II, Infantile C0751173 GAA Causal Pathogenic evidence from ClinVar 11328962, 15466083, 18176891, 21644219, 21963784 ClinVar
Glycogen Storage Disease Type II, Juvenile C0751174 GAA Causal Pathogenic evidence from ClinVar 11328962, 15466083, 18176891, 21644219, 21963784 ClinVar
Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form 308712 GBE1 Causal Pathogenic evidence from ClinVar - ClinVar
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form 308684 GBE1 Causal Pathogenic evidence from ClinVar - ClinVar
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form 308698 GBE1 Causal Pathogenic evidence from ClinVar - ClinVar
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form 308670 GBE1 Causal Pathogenic evidence from ClinVar - ClinVar
Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form 308655 GBE1 Causal Pathogenic evidence from ClinVar - ClinVar
Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form 308638 GBE1 Causal Pathogenic evidence from ClinVar - ClinVar
Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form 308621 GBE1 Causal Pathogenic evidence from ClinVar - ClinVar
Glycogen Storage Disease Type IV C0017923 GBE1 Causal Pathogenic evidence from ClinVar 8613547, 9851430, 10545044, 10762170, 12913206, 15452297, 15520786, 17915577, 17994551, 19438752, 19813197, 20058079, 20655781, 21620786, 21917543, 22106711, 23034915, 23137060, 23218673, 24248152, 25489661, 25665141, 25728520, 26166723, 26199317, 26385640, 26886200, 27604308, 28507268 ClinVar
GSD IV, Classic Hepatic C1856301 GBE1 Causal Pathogenic evidence from ClinVar 8613547, 9851430, 10762170, 12913206, 15452297, 15520786, 17915577, 19813197, 20058079, 20655781, 21917543, 23034915, 23218673, 24248152, 25665141, 26166723, 26199317, 26385640 ClinVar
GSD IV, Neuromuscular Form, Childhood C1856305 GBE1 Causal Pathogenic evidence from ClinVar - ClinVar
GSD IV, Neuromuscular Form, Fatal Perinatal C1856303 GBE1 Causal Pathogenic evidence from ClinVar - ClinVar
GLYCOGEN STORAGE DISEASE XV C3150754 GYG1 Causal Pathogenic evidence from ClinVar 20357282, 22160680, 25272951, 26255073, 26652229, 27718144 ClinVar
Glycogen Storage Disease 0, Muscle C1969054 GYS1 Causal Pathogenic evidence from ClinVar 17928598, 21958591, 24579562 ClinVar
Glycogen storage disease due to muscle and heart glycogen synthase deficiency 137625 GYS1 Causal Pathogenic evidence from ClinVar - ClinVar
Glycogen Storage Disease 0, Liver C1855861 GYS2 Causal Pathogenic evidence from ClinVar 9691087, 12072888, 20051115, 25070466, 27604308, 28245189 ClinVar
Glycogen storage disease due to hepatic glycogen synthase deficiency 2089 GYS2 Causal Pathogenic evidence from ClinVar - ClinVar
Glycogen storage disease due to muscle phosphofructokinase deficiency 371 PFKM Causal Pathogenic evidence from ClinVar - ClinVar
Glycogen Storage Disease Type VII C0017926 PFKM Causal Pathogenic evidence from ClinVar 2140573, 7513946, 7603526, 7825568, 8037209, 8444874, 8880699, 8889589, 22133655, 24427140, 26108272, 27604308 ClinVar
Glycogen storage disease due to phosphoglycerate mutase deficiency 97234 PGAM2 Causal Pathogenic evidence from ClinVar - ClinVar
Glycogen storage disease type X C0268149 PGAM2 Causal Pathogenic evidence from ClinVar 8447317, 10545043, 19273759, 27612597, 28779239 ClinVar
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 713 PGK1 Causal Pathogenic evidence from ClinVar - ClinVar