Mucopolysaccharidosis

Disease Term Disease ID Gene Symbol Classification References Source
Mucopolysaccharidosis type 6, rapidly progressing 276212 ARSB Causal Pathogenic evidence from ClinVar - ClinVar
Mucopolysaccharidosis type 6, slowly progressing 276223 ARSB Causal Pathogenic evidence from ClinVar - ClinVar
Mucopolysaccharidosis VI C0026709 ARSB Causal Pathogenic evidence from ClinVar 1301949, 1550123, 1718978, 7733883, 8116615, 8125475, 8541342, 8651289, 8723688, 8752530, 9514506, 10036316, 10206678, 10738004, 10923267, 11802522, 14974081, 15603718, 16435196, 16949067, 17161971, 17458871, 17643332, 17672828, 18406185, 18486607, 19259130, 20143913, 21514195, 21791831, 21791832, 21813902, 21917494, 21930407, 21996138, 22133300, 22441840, 22976768, 23430861, 23458163, 23557332, 23633437, 23657977, 23949968, 24053568, 24107440, 24221504, 24243352, 24262793, 24373060, 24677745, 24767253, 24798265, 24875751, 25190157, 25654180, 26609033, 26909334, 26910003, 26937411, 27604308, 27797586, 27826022, 28552677, 28649537, 28858097, 28884960, 28914427, 30083803 ClinVar
GUSB Causal Pathogenic evidence from ClinVar 8089138, 8644704, 9490302, 9921904, 12403825, 12859417, 19224584, 26908836, 30413728 ClinVar
Mucopolysaccharidosis IV C0026707 GALNS Causal Pathogenic evidence from ClinVar 8829629, 9298823, 9385378, 9401012, 9521421, 10814710, 15235041, 15305357, 22976768, 23876334, 24726177, 25287660, 25433535, 25501214, 27604308 ClinVar
GLB1 Causal Pathogenic evidence from ClinVar 1928092, 7586649, 8950724, 27604308 ClinVar
Mucopolysaccharidosis type 4A 309297 GALNS Causal Pathogenic evidence from ClinVar - ClinVar
Mucopolysaccharidosis type IVB C0086652 GALNS Causal Pathogenic evidence from ClinVar - ClinVar
GLB1 Causal Pathogenic evidence from ClinVar 1353343, 1907800, 1909089, 1928092, 7586649, 8068159, 8112731, 8198123, 8199591, 8213816, 8950724, 9203065, 10338095, 10737981, 10744681, 10839995, 10841810, 11511921, 12393180, 15365997, 15714521, 15943552, 15986423, 16314480, 16538002, 16617000, 16626397, 16674934, 16941474, 17221873, 17309651, 17664528, 18524657, 18546276, 18571950, 19472408, 19644515, 20175788, 20409738, 20920281, 21214877, 21497194, 21520340, 22128166, 22234367, 23151865, 23337983, 23430499, 23430803, 23831247, 24767253, 24777551, 25326637, 25443580, 25525159, 25557439, 25600812, 25936995, 26108645, 26646981, 27604308, 27679996, 27750150, 29160035, 29352662 ClinVar
TMPPE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8198123, 8199591, 21497194, 29160035 -
Mucopolysaccharidosis, MPS-IV-A C0086651 GALNS Causal Pathogenic evidence from ClinVar 1522213, 7581409, 7633425, 7668283, 7795586, 7987329, 8651279, 8826435, 9298823, 9375852, 9385378, 9521421, 10814710, 12442278, 15235041, 15305357, 15309681, 16287098, 16837223, 17876718, 22940367, 22976768, 23227063, 23401410, 23876334, 24411403, 24726177, 25137622, 25252036, 25287660, 25364648, 25433535, 26147980, 27604308, 29275451 ClinVar
GLB1 Causal Pathogenic evidence from ClinVar 1928092, 7586649 ClinVar
TRAPPC2L Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9375852, 16287098, 24726177, 25252036 -
Mucopolysaccharidosis type 4B 309310 GLB1 Causal Pathogenic evidence from ClinVar - ClinVar
MPS III B C0086648 GNS Causal Pathogenic evidence from ClinVar 3391615 ClinVar
HGSNAT Causal Pathogenic evidence from ClinVar - ClinVar
NAGLU Causal Pathogenic evidence from ClinVar 8650226, 9443875, 9443878, 9832037, 9950362, 10094189, 11068184, 11153910, 11286389, 11668611, 11793481, 11836372, 12202988, 14984474, 15300983, 15933803, 16151907, 18218046, 19046346, 20040070, 20852935, 21204211, 21712855, 21910976, 21937992, 22976768, 23084433, 23100014, 23380547, 23661660, 23667853, 24314109, 25256447, 25466957, 25525159, 25818867, 26075876, 26907177, 27590925, 27604308, 28101780, 28844463 ClinVar
SGSH Causal Pathogenic evidence from ClinVar - ClinVar
MPS III C C0086649 GNS Causal Pathogenic evidence from ClinVar 3391615 ClinVar
HGSNAT Causal Pathogenic evidence from ClinVar 16960811, 17033958, 17397050, 18024218, 19479962, 19823584, 20583299, 20825431, 21048366, 23301227, 24767253, 25491247, 25525159, 25859010, 27604308, 27733599, 28101780 ClinVar
NAGLU Causal Pathogenic evidence from ClinVar - ClinVar
SGSH Causal Pathogenic evidence from ClinVar - ClinVar
MPS III D C0086650 GNS Causal Pathogenic evidence from ClinVar 3391615, 12573255, 12624138, 17998446, 20232353, 27604308 ClinVar
HGSNAT Causal Pathogenic evidence from ClinVar - ClinVar
NAGLU Causal Pathogenic evidence from ClinVar - ClinVar
SGSH Causal Pathogenic evidence from ClinVar - ClinVar
Mucopolysaccharidosis III C0026706 GNS Causal Pathogenic evidence from ClinVar 3391615, 27604308 ClinVar
HGSNAT Causal Pathogenic evidence from ClinVar 16960811, 17033958, 17397050, 18024218, 18518886, 19479962, 19823584, 20583299, 20825431, 21048366, 26287674, 27604308 ClinVar
NAGLU Causal Pathogenic evidence from ClinVar 9950362, 23380547, 27604308 ClinVar
SGSH Causal Pathogenic evidence from ClinVar 9158154, 9285796, 9401012, 9554748, 9700599, 11182930, 11343308, 11668611, 15146460, 15542396, 18407553, 21061399, 21204211, 21671382, 22976768, 24875751, 27604308 ClinVar
Mucopolysaccharidosis Type IIIA C0086647 GNS Causal Pathogenic evidence from ClinVar 3391615 ClinVar
HGSNAT Causal Pathogenic evidence from ClinVar - ClinVar
NAGLU Causal Pathogenic evidence from ClinVar - ClinVar
SGSH Causal Pathogenic evidence from ClinVar 7493035, 9158154, 9285796, 9401012, 9554748, 9700599, 9744479, 10601282, 10727844, 11182930, 11343308, 11668611, 11793481, 11903343, 12000360, 12702166, 15146460, 15542396, 15637719, 15902564, 16311287, 17128482, 18407553, 19099774, 19383612, 21061399, 21204211, 21228398, 21393040, 21455105, 21671382, 21910976, 21963080, 22002444, 22976768, 22976788, 23084433, 24314109, 24347096, 24816101, 24875751, 25113300, 25557439, 25807448, 26331342, 26648750, 26787381, 27590925, 27604308, 28101780, 28844463, 29023963, 30593151 ClinVar
SLC26A11 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21910976, 22976768, 24816101 -
Mucopolysaccharidosis type 7 584 GUSB Causal Pathogenic evidence from ClinVar - ClinVar
Mucopolysaccharidosis VII C0085132 GUSB Causal Pathogenic evidence from ClinVar 1702266, 4265197, 7573038, 7633414, 7680524, 8089138, 8111412, 8111413, 8644704, 8707294, 9099834, 9490302, 12522561, 12859417, 19224584, 23777470, 24284886, 26036949, 27604308 ClinVar
Mucopolysaccharidosis II C0026705 IDS Causal Pathogenic evidence from ClinVar 1284597, 1303211, 1639384, 7581397, 7599640, 7728156, 7866405, 7887413, 7981716, 8281149, 8364592, 8566953, 8664909, 8829647, 8830188, 8940265, 9222763, 9266380, 9375851, 9452044, 9501270, 9573369, 9660053, 9762601, 9875019, 9921913, 9950361, 10215411, 10220152, 10447264, 10671065, 10814710, 10838181, 11015461, 11683780, 11731225, 12655569, 12794697, 14728992, 15314824, 15614569, 16133661, 16480701, 16505002, 16699754, 17063374, 17284421, 17391447, 18500569, 21291454, 21829674, 22990955, 24125893, 24268528, 24780617, 25681085, 26407519, 26693516, 26762690, 27146977, 27246110, 27351199, 27604308, 27896113, 28077157, 28207863 ClinVar
Mucopolysaccharidosis type 2, attenuated form 217093 IDS Causal Pathogenic evidence from ClinVar - ClinVar
Mucopolysaccharidosis type 2, severe form 217085 IDS Causal Pathogenic evidence from ClinVar - ClinVar
alpha-L-Iduronidase Deficiency C2713321 IDUA Causal Pathogenic evidence from ClinVar 11159948, 15081804, 15194053, 19309154, 22822036 ClinVar
Mucopolysaccharidosis I C0023786 IDUA Causal Pathogenic evidence from ClinVar 1301196, 1301941, 7550242, 7951228, 8019563, 8213840, 8401515, 8664897, 8680403, 9391892, 9427149, 9748610, 9787109, 10215409, 10466419, 10911525, 11159948, 11735025, 12189649, 12203999, 12509712, 12559846, 14559116, 15081804, 15194053, 15300847, 15862278, 16435195, 18796143, 19309154, 19396826, 19751987, 19839758, 21394825, 21480867, 21521498, 21639919, 21734815, 21831683, 22306676, 22822036, 22976768, 23786846, 23837464, 24036510, 24314423, 24368159, 24698225, 24798265, 24875751, 27511503, 27520059, 27604308, 27896125, 28752568 ClinVar
SLC26A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1301941, 7550242, 7951228, 8401515, 8664897, 8680403, 9427149, 9787109, 10215409, 11735025, 12189649, 12203999, 12559846, 14559116, 15300847, 18796143, 19396826, 19839758, 21394825, 21480867, 21831683, 22306676, 22976768, 23786846, 24314423, 24368159, 27896125 -
Mucopolysaccharidosis V C0026708 IDUA Causal Pathogenic evidence from ClinVar 1301196, 1301941, 7550232, 7550242, 8213840, 8680403, 10735634, 11159948, 11735025, 12559846, 15081804, 15194053, 15300847, 19309154, 19396826, 19751987, 21394825, 22822036, 22976768, 23786846, 23917744, 24368159, 25256405, 27604308 ClinVar
SLC26A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1301941, 11735025, 23786846 -