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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:mucopolysaccharidosis
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Accession:DOID:12798 term browser browse the term
Definition:A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine. (DO)
Synonyms:exact_synonym: mucopolysaccharidoses
 related_synonym: IDUA pseudodeficiency
 primary_id: MESH:D009083
 xref: GARD:7065;   ICD10CM:E76.3;   ICD9CM:277.5;   NCI:C61259;   OMIM:PS607014;   ORDO:79213
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
mucopolysaccharidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CARD14 caspase recruitment domain family member 14 ISO ClinVar Annotator: match by term: Mucopolysaccharidoses ClinVar PMID:9158154 PMID:9285796 PMID:9401012 PMID:9700599 PMID:10601282 More... NCBI chr12:2,248,337...2,275,015
Ensembl chr12:2,255,038...2,271,588
JBrowse link
G GUSB glucuronidase beta disease_progression ISO protein:decreases activity:spleen, kidney, lung (rat) RGD PMID:2879381 RGD:42724461 NCBI chr 3:16,672,071...16,686,520
Ensembl chr 3:16,671,389...16,689,203
JBrowse link
G HYAL1 hyaluronidase 1 ISO mucopolysaccharidosis IX, OMIM:601492 DNA:point_mutation,rearrangement:CDS:compound heterozygote G1412A -> amino acid E268K, 1361del37ins14 RGD PMID:10339581 RGD:1599811 NCBI chr13:32,798,135...32,800,705
Ensembl chr13:32,797,681...32,800,793
JBrowse link
G IDUA alpha-L-iduronidase ISO ClinVar Annotator: match by term: IDUA pseudodeficiency ClinVar PMID:8554071 PMID:28492532 NCBI chr 8:334,604...351,970
Ensembl chr 8:334,617...351,969
JBrowse link
G LOC100154844 heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis ClinVar PMID:17033958 PMID:18024218 PMID:19479962 PMID:19823584 PMID:20583299 More... NCBI chr17:8,644,388...8,665,004 JBrowse link
G SGSH N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: Mucopolysaccharidoses | ClinVar Annotator: match by term: Mucopolysaccharidosis ClinVar PMID:9158154 PMID:9285796 PMID:9401012 PMID:9554748 PMID:9700599 More... NCBI chr12:2,241,824...2,248,388
Ensembl chr12:2,241,840...2,248,376
JBrowse link
mucopolysaccharidosis I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADD1 adducin 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 8:1,627,146...1,710,653
Ensembl chr 8:1,627,062...1,710,650
JBrowse link
G ATP5ME ATP synthase membrane subunit e ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 8:112,092...113,526
Ensembl chr 8:110,605...113,510
JBrowse link
G C8H4orf48 chromosome 8 C4orf48 homolog ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 8:1,055,115...1,058,203
Ensembl chr 8:1,054,236...1,058,200
JBrowse link
G CPLX1 complexin 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 8:197,876...231,721
Ensembl chr 8:197,882...205,371
JBrowse link
G CTBP1 C-terminal binding protein 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 8:475,164...496,510
Ensembl chr 8:475,888...496,002
JBrowse link
G DGKQ diacylglycerol kinase theta ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 8:313,325...325,089
Ensembl chr 8:313,329...325,095
JBrowse link
G FAM193A family with sequence similarity 193 member A ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 8:1,388,442...1,523,935
Ensembl chr 8:1,388,266...1,523,928
JBrowse link
G FAM53A family with sequence similarity 53 member A ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 8:777,081...796,383
Ensembl chr 8:776,661...795,695
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964
JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 8:365,367...378,384
Ensembl chr 8:365,181...378,375
JBrowse link
G GAK cyclin G associated kinase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 8:240,818...296,989
Ensembl chr 8:240,822...296,956
JBrowse link
G HAUS3 HAUS augmin like complex subunit 3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 8:1,187,149...1,198,517
Ensembl chr 8:1,073,889...1,197,086
JBrowse link
G IDUA alpha-L-iduronidase treatment ISO ClinVar Annotator: match by term: Alpha-L-Iduronidase deficiency | ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 RGD
ClinVar
PMID:1301196 PMID:1301941 PMID:1505961 PMID:1550122 PMID:1627351 More... RGD:12910497 RGD:12910499 RGD:12910502 RGD:12910503 RGD:12910508 RGD:12910510 RGD:12910716 RGD:12910719 RGD:12910720 NCBI chr 8:334,604...351,970
Ensembl chr 8:334,617...351,969
JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 8:898,178...926,500
Ensembl chr 8:898,181...926,593
JBrowse link
G MAEA macrophage erythroblast attacher, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 8:543,281...568,437
Ensembl chr 8:543,291...568,452
JBrowse link
G MXD4 MAX dimerization protein 4 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 8:1,203,163...1,216,807
Ensembl chr 8:1,203,172...1,216,725
JBrowse link
G MYL5 myosin light chain 5 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 8:115,986...120,297
Ensembl chr 8:116,711...120,301
JBrowse link
G NAT8L N-acetyltransferase 8 like ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 8:1,063,917...1,072,191
Ensembl chr 8:1,063,824...1,072,189
JBrowse link
G NELFA negative elongation factor complex member A ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 8:1,018,443...1,039,091
Ensembl chr 8:1,018,453...1,039,134
JBrowse link
G NKX1-1 NK1 homeobox 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 8:608,327...611,859
Ensembl chr 8:608,098...611,859
JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 8:938,832...1,018,032
Ensembl chr 8:964,893...1,018,028
JBrowse link
G PCGF3 polycomb group ring finger 3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 8:140,435...189,796
Ensembl chr 8:140,446...182,261
JBrowse link
G PDE6B phosphodiesterase 6B ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 8:80,378...111,960
Ensembl chr 8:80,378...110,672
JBrowse link
G PIGG phosphatidylinositol glycan anchor biosynthesis class G ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 8:21,437...44,415
Ensembl chr 8:20,646...43,330
JBrowse link
G POLN DNA polymerase nu ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 8:1,073,337...1,198,538
Ensembl chr 8:1,073,889...1,197,086
JBrowse link
G RNF212 ring finger protein 212 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 8:393,707...413,952 JBrowse link
G RNF4 ring finger protein 4 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 8:1,353,532...1,380,637
Ensembl chr 8:1,353,658...1,380,634
JBrowse link
G SH3BP2 SH3 domain binding protein 2 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 8:1,583,169...1,619,038
Ensembl chr 8:1,583,193...1,619,037
JBrowse link
G SLC26A1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: Alpha-L-Iduronidase deficiency | ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:1301941 PMID:1505961 PMID:6821579 PMID:7550232 PMID:7550242 More... NCBI chr 8:335,420...345,955
Ensembl chr 8:335,427...342,444
JBrowse link
G SLC49A3 solute carrier family 49 member 3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 8:120,088...128,420
Ensembl chr 8:120,102...128,425
JBrowse link
G SPON2 spondin 2 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 8:447,176...450,829
Ensembl chr 8:447,180...450,538
JBrowse link
G TACC3 transforming acidic coiled-coil containing protein 3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 8:825,433...835,425
Ensembl chr 8:824,999...837,322
JBrowse link
G TMEM129 transmembrane protein 129, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 8:802,940...818,161
Ensembl chr 8:802,940...818,216
JBrowse link
G TMEM129 transmembrane protein 129, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 8:819,762...826,233
Ensembl chr 8:819,764...826,192
JBrowse link
G TMEM175 transmembrane protein 175 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 8:295,693...313,974
Ensembl chr 8:297,007...313,972
JBrowse link
G TNIP2 TNFAIP3 interacting protein 2 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 8:1,530,534...1,554,677
Ensembl chr 8:1,533,429...1,554,683
JBrowse link
G UVSSA UV stimulated scaffold protein A ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 8:573,299...602,617
Ensembl chr 8:573,426...601,944
JBrowse link
G ZFYVE28 zinc finger FYVE-type containing 28 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 8:1,225,417...1,312,938
Ensembl chr 8:1,225,429...1,312,521
JBrowse link
mucopolysaccharidosis Ih term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IDUA alpha-L-iduronidase ISO ClinVar Annotator: match by term: Gargoylism, Hurler Syndrome | ClinVar Annotator: match by term: Hurler syndrome | ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH OMIM
ClinVar
PMID:1301196 PMID:1301941 PMID:1505961 PMID:1550122 PMID:2170400 More... NCBI chr 8:334,604...351,970
Ensembl chr 8:334,617...351,969
JBrowse link
G PITX1 paired like homeodomain 1 ISO ClinVar Annotator: match by term: Hurler syndrome ClinVar PMID:25741868 NCBI chr 2:137,200,424...137,212,500
Ensembl chr 2:137,200,423...137,206,979
JBrowse link
G SLC26A1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: Gargoylism, Hurler Syndrome | ClinVar Annotator: match by term: Hurler syndrome ClinVar PMID:1301941 PMID:1505961 PMID:6821579 PMID:7550232 PMID:7951228 More... NCBI chr 8:335,420...345,955
Ensembl chr 8:335,427...342,444
JBrowse link
mucopolysaccharidosis Ih/s term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IDUA alpha-L-iduronidase ISO ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH/S | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-I-H/S OMIM
ClinVar
PMID:1301196 PMID:1301941 PMID:1505961 PMID:4221470 PMID:7550232 More... NCBI chr 8:334,604...351,970
Ensembl chr 8:334,617...351,969
JBrowse link
G SLC26A1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH/S | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-I-H/S ClinVar PMID:1301941 PMID:1505961 PMID:7951228 PMID:8213840 PMID:8401515 More... NCBI chr 8:335,420...345,955
Ensembl chr 8:335,427...342,444
JBrowse link
mucopolysaccharidosis II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IDS iduronate 2-sulfatase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-II | ClinVar Annotator: match by term: Mucopolysaccharidosis, type II, mild form | ClinVar Annotator: match by term: Mucopolysaccharidosis, type II, severe form OMIM
ClinVar
PMID:1284597 PMID:1303211 PMID:1355630 PMID:1550586 PMID:1639384 More... NCBI chr  X:121,572,797...121,596,525
Ensembl chr  X:121,572,807...121,596,513
JBrowse link
mucopolysaccharidosis III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CARD14 caspase recruitment domain family member 14 ISO ClinVar Annotator: match by term: Sanfilippo syndrome ClinVar PMID:9158154 PMID:9285796 PMID:9401012 PMID:9700599 PMID:10601282 More... NCBI chr12:2,248,337...2,275,015
Ensembl chr12:2,255,038...2,271,588
JBrowse link
G COASY Coenzyme A synthase susceptibility ISO DNA:nonsense mutation, splice-site mutation, missense mutations:multiple RGD PMID:11153910 RGD:1642057 NCBI chr12:20,258,366...20,262,849
Ensembl chr12:20,258,373...20,262,795
JBrowse link
G GNS glucosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Sanfilippo syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20232353 PMID:25741868 More... NCBI chr 5:29,128,754...29,190,283
Ensembl chr 5:29,128,760...29,190,230
JBrowse link
G IDS iduronate 2-sulfatase ISO ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency ClinVar PMID:21291454 PMID:25741868 PMID:28492532 NCBI chr  X:121,572,797...121,596,525
Ensembl chr  X:121,572,807...121,596,513
JBrowse link
G LOC100154844 heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Sanfilippo syndrome ClinVar PMID:16199547 PMID:16960811 PMID:17033958 PMID:17397050 PMID:18024218 More... NCBI chr17:8,644,388...8,665,004 JBrowse link
G SGSH N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency | ClinVar Annotator: match by term: Sanfilippo syndrome ClinVar PMID:9158154 PMID:9285796 PMID:9401012 PMID:9554748 PMID:9700599 More... NCBI chr12:2,241,824...2,248,388
Ensembl chr12:2,241,840...2,248,376
JBrowse link
mucopolysaccharidosis IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APRT adenine phosphoribosyltransferase ISO ClinVar Annotator: match by term: Morquio syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:890,272...893,278
Ensembl chr 6:890,831...893,276
JBrowse link
G CCL11 chemokine (C-C motif) ligand 11 ISO protein:decreased expression:plasma RGD PMID:22176730 RGD:7247741 NCBI chr12:40,779,906...40,782,862
Ensembl chr12:40,779,173...40,782,893
JBrowse link
G GALNS galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Galactosamine-6-sulfatase deficiency | ClinVar Annotator: match by term: Morquio syndrome ClinVar PMID:7633425 PMID:7668283 PMID:7795586 PMID:8829629 PMID:9298823 More... NCBI chr 6:869,284...890,137
Ensembl chr 6:869,244...890,134
JBrowse link
G GLB1 galactosidase beta 1 ISO ClinVar Annotator: match by term: Morquio syndrome ClinVar NCBI chr13:18,878,407...18,978,999
Ensembl chr13:18,878,612...18,953,146
JBrowse link
G TMPPE transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Morquio syndrome ClinVar NCBI chr13:18,972,108...18,978,908
Ensembl chr13:18,969,682...18,978,997
JBrowse link
mucopolysaccharidosis IVA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACSF3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 6:663,201...708,800
Ensembl chr 6:663,123...709,186
JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 6:455,856...612,878
Ensembl chr 6:455,851...612,868
JBrowse link
G APRT adenine phosphoribosyltransferase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:10479485 PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chr 6:890,272...893,278
Ensembl chr 6:890,831...893,276
JBrowse link
G BANP BTG3 associated nuclear protein ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 6:1,421,460...1,495,484
Ensembl chr 6:1,421,462...1,495,486
JBrowse link
G CA5A carbonic anhydrase 5A ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 6:1,495,615...1,539,390
Ensembl chr 6:1,506,042...1,538,777
JBrowse link
G CBFA2T3 CBFA2/RUNX1 partner transcriptional co-repressor 3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 6:779,164...854,449
Ensembl chr 6:779,366...853,822
JBrowse link
G CDH15 cadherin 15 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 6:636,350...652,260
Ensembl chr 6:636,377...652,165
JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chr 6:893,377...897,706
Ensembl chr 6:893,381...897,934
JBrowse link
G CHMP1A charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 6:351,878...358,655
Ensembl chr 6:351,866...358,653
JBrowse link
G CPNE7 copine 7 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 6:393,756...410,781 JBrowse link
G CTU2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 6:964,551...976,881
Ensembl chr 6:964,566...976,832
JBrowse link
G CYBA cytochrome b-245 alpha chain ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 6:1,015,212...1,021,422
Ensembl chr 6:1,015,162...1,021,420
JBrowse link
G DPEP1 dipeptidase 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 6:361,187...385,757
Ensembl chr 6:361,197...376,616
JBrowse link
G GALNS galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A OMIM
ClinVar
PMID:1522213 PMID:7581409 PMID:7633425 PMID:7668283 PMID:7795586 More... NCBI chr 6:869,284...890,137
Ensembl chr 6:869,244...890,134
JBrowse link
G IL17C interleukin 17C ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 6:1,023,330...1,025,173
Ensembl chr 6:1,022,937...1,025,161
JBrowse link
G JPH3 junctophilin 3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 6:1,677,132...1,767,010 JBrowse link
G KLHDC4 kelch domain containing 4 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 6:1,627,054...1,672,328
Ensembl chr 6:1,617,653...1,677,127
JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 6:1,008,100...1,014,303
Ensembl chr 6:1,008,100...1,014,303
JBrowse link
G PABPN1L PABPN1 like, cytoplasmic ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 6:854,605...861,969
Ensembl chr 6:858,888...861,604
JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chr 6:914,480...967,113
Ensembl chr 6:914,709...967,111
JBrowse link
G RNF166 ring finger protein 166 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 6:976,957...982,997
Ensembl chr 6:976,980...982,995
JBrowse link
G RPL13 ribosomal protein L13 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 6:410,923...413,396 JBrowse link
G SLC7A5 solute carrier family 7 member 5 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 6:1,545,940...1,574,298
Ensembl chr 6:1,545,944...1,574,285
JBrowse link
G SNAI3 snail family transcriptional repressor 3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 6:988,975...996,268
Ensembl chr 6:988,990...996,247
JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 6:414,930...439,206
Ensembl chr 6:414,932...439,212
JBrowse link
G TRAPPC2L trafficking protein particle complex subunit 2L ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:7795586 PMID:8829629 PMID:9298823 PMID:9375852 PMID:9536098 More... NCBI chr 6:865,498...869,253
Ensembl chr 6:863,805...869,226
JBrowse link
G ZC3H18 zinc finger CCCH-type containing 18 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 6:1,030,416...1,081,541
Ensembl chr 6:1,030,418...1,081,538
JBrowse link
G ZFPM1 zinc finger protein, FOG family member 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 6:1,091,158...1,153,972
Ensembl chr 6:1,091,259...1,107,096
JBrowse link
G ZNF469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 6:1,161,514...1,208,406
Ensembl chr 6:1,162,822...1,174,257
JBrowse link
mucopolysaccharidosis IX term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HYAL1 hyaluronidase 1 ISO ClinVar Annotator: match by term: Deficiency of hyaluronoglucosaminidase OMIM
ClinVar
PMID:8793927 PMID:10339581 PMID:21559944 PMID:25741868 PMID:27424109 More... NCBI chr13:32,798,135...32,800,705
Ensembl chr13:32,797,681...32,800,793
JBrowse link
mucopolysaccharidosis type IIIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CARD14 caspase recruitment domain family member 14 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIA (Sanfilippo A) ClinVar PMID:9158154 PMID:9285796 PMID:9401012 PMID:9700599 PMID:10601282 More... NCBI chr12:2,248,337...2,275,015
Ensembl chr12:2,255,038...2,271,588
JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A ClinVar PMID:9536098 PMID:16465621 PMID:17576681 PMID:19617216 PMID:19938078 More... NCBI chr 5:82,264,640...82,460,819
Ensembl chr 5:82,361,872...82,460,814
JBrowse link
G IDS iduronate 2-sulfatase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A ClinVar PMID:1303211 PMID:1550586 PMID:8318991 PMID:18414213 PMID:21291454 More... NCBI chr  X:121,572,797...121,596,525
Ensembl chr  X:121,572,807...121,596,513
JBrowse link
G SGSH N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIA (Sanfilippo A) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A OMIM
ClinVar
PMID:7493035 PMID:9158154 PMID:9285796 PMID:9401012 PMID:9536098 More... NCBI chr12:2,241,824...2,248,388
Ensembl chr12:2,241,840...2,248,376
JBrowse link
mucopolysaccharidosis type IIIC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FNTA farnesyltransferase, CAAX box, alpha ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C ClinVar PMID:28492532 NCBI chr17:11,928,327...11,953,139
Ensembl chr17:11,928,358...11,951,684
JBrowse link
G LOC100154844 heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIC (Sanfilippo C) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16960811 PMID:17033958 PMID:17397050 More... NCBI chr17:8,644,388...8,665,004 JBrowse link
G POMK protein O-mannose kinase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C ClinVar PMID:17033958 PMID:19479962 PMID:28492532 NCBI chr17:11,957,615...11,978,919 JBrowse link
mucopolysaccharidosis type IIID term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C5H12orf56 chromosome 5 C12orf56 homolog ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 5:28,716,366...28,819,136
Ensembl chr 5:28,716,358...28,817,810
JBrowse link
G GNS glucosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D OMIM
ClinVar
PMID:3100754 PMID:6450420 PMID:9536098 PMID:12573255 PMID:12624138 More... NCBI chr 5:29,128,754...29,190,283
Ensembl chr 5:29,128,760...29,190,230
JBrowse link
G KICS2 KICSTOR subunit 2 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 5:28,656,227...28,679,095
Ensembl chr 5:28,653,236...28,678,859
JBrowse link
G LEMD3 LEM domain containing 3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 5:29,596,334...29,672,704
Ensembl chr 5:29,596,334...29,673,875
JBrowse link
G MOK MOK protein kinase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:25741868
G MSRB3 methionine sulfoxide reductase B3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 5:29,695,824...29,863,601
Ensembl chr 5:29,695,640...29,863,599
JBrowse link
G RASSF3 Ras association domain family member 3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 5:28,949,787...29,113,894
Ensembl chr 5:29,025,549...29,113,890
JBrowse link
G RXYLT1 ribitol xylosyltransferase 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 5:28,247,409...28,276,276
Ensembl chr 5:28,247,412...28,276,273
JBrowse link
G SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 5:28,300,955...28,605,122
Ensembl chr 5:28,300,950...28,605,120
JBrowse link
G TBC1D30 TBC1 domain family member 30 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 5:29,206,134...29,298,401
Ensembl chr 5:29,248,091...29,298,407
JBrowse link
G TBK1 TANK binding kinase 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 5:28,880,210...28,929,964
Ensembl chr 5:28,880,205...28,929,963
JBrowse link
G WIF1 WNT inhibitory factor 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 5:29,450,442...29,543,913
Ensembl chr 5:29,450,442...29,543,913
JBrowse link
G XPOT exportin for tRNA ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 5:28,678,971...28,875,336
Ensembl chr 5:28,828,566...28,875,325
JBrowse link
mucopolysaccharidosis type IVB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLB1 galactosidase beta 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-B OMIM
ClinVar
PMID:1353343 PMID:1487238 PMID:1907800 PMID:1909089 PMID:1928092 More... NCBI chr13:18,878,407...18,978,999
Ensembl chr13:18,878,612...18,953,146
JBrowse link
G TMPPE transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-B ClinVar PMID:8198123 PMID:8199591 PMID:9536098 PMID:16199547 PMID:16941474 More... NCBI chr13:18,972,108...18,978,908
Ensembl chr13:18,969,682...18,978,997
JBrowse link
mucopolysaccharidosis VI term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 ISO protein:increased expression:intervertebral disk RGD PMID:23192728 RGD:10043113 NCBI chr13:190,353,019...190,413,110
Ensembl chr13:190,361,744...190,413,110
JBrowse link
G AP3B1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 ClinVar PMID:10036316 PMID:17458871 PMID:18486607 PMID:28492532 NCBI chr 2:86,875,922...87,142,722
Ensembl chr 2:86,873,290...87,142,768
JBrowse link
G ARSB arylsulfatase B treatment
susceptibility
ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 | ClinVar Annotator: match by term: Mucopolysaccharidosis, type vi, intermediate | ClinVar Annotator: match by term: Mucopolysaccharidosis, type vi, mild | ClinVar Annotator: match by term: Mucopolysaccharidosis, type vi, severe OMIM
ClinVar
RGD
PMID:1301949 PMID:1550123 PMID:1718978 PMID:4974081 PMID:7733883 More... RGD:1599228 RGD:39131283 RGD:631738 NCBI chr 2:87,614,938...87,779,553
Ensembl chr 2:87,614,963...87,778,447
JBrowse link
G GUSB glucuronidase beta ISO ClinVar Annotator: match by term: Maroteaux Lamy syndrome ClinVar PMID:7573038 PMID:8089138 PMID:8644704 PMID:9490302 PMID:9921904 More... NCBI chr 3:16,672,071...16,686,520
Ensembl chr 3:16,671,389...16,689,203
JBrowse link
G LHFPL2 LHFPL tetraspan subfamily member 2 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 ClinVar PMID:10036316 PMID:17458871 PMID:18486607 PMID:28492532 NCBI chr 2:87,321,119...87,498,686
Ensembl chr 2:87,322,934...87,349,878
JBrowse link
G SCAMP1 secretory carrier membrane protein 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 ClinVar PMID:10036316 PMID:17458871 PMID:18486607 PMID:28492532 NCBI chr 2:87,210,839...87,313,520
Ensembl chr 2:87,210,846...87,316,112
JBrowse link
G TNF tumor necrosis factor treatment ISO RGD PMID:21887218 RGD:39131283 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
JBrowse link
G TNFSF11 TNF superfamily member 11 treatment ISO RGD PMID:21887218 RGD:39131283 NCBI chr11:24,468,011...24,505,421
Ensembl chr11:24,468,110...24,505,477
JBrowse link
Mucopolysaccharidosis X term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARSK arylsulfatase family member K ISO ClinVar Annotator: match by term: ARSK DEFICIENCY OMIM
ClinVar
PMID:34916232 NCBI chr 2:102,164,089...102,210,293
Ensembl chr 2:102,164,222...102,212,780
JBrowse link
Mucopolysaccharidosis-Plus Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VPS33A VPS33A core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Mucopolysaccharidosis-plus syndrome OMIM
ClinVar
PMID:25741868 PMID:27547915 PMID:28013294 PMID:31070736 NCBI chr14:30,469,003...30,496,626
Ensembl chr14:30,469,070...30,495,470
JBrowse link
Scheie syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IDUA alpha-L-iduronidase ISO ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE V | ClinVar Annotator: match by term: Scheie Syndrome OMIM
ClinVar
PMID:1301196 PMID:1301941 PMID:1505961 PMID:1550122 PMID:2170400 More... NCBI chr 8:334,604...351,970
Ensembl chr 8:334,617...351,969
JBrowse link
G SLC26A1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE V | ClinVar Annotator: match by term: Scheie Syndrome ClinVar PMID:1301941 PMID:1505961 PMID:7951228 PMID:8401515 PMID:9427149 More... NCBI chr 8:335,420...345,955
Ensembl chr 8:335,427...342,444
JBrowse link
Sly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASL argininosuccinate lyase ISO ClinVar Annotator: match by term: Sly syndrome ClinVar PMID:19224584 PMID:28492532 NCBI chr 3:16,637,481...16,646,869
Ensembl chr 3:16,637,481...16,646,867
JBrowse link
G GUSB glucuronidase beta ISO ClinVar Annotator: match by term: MPS VII | ClinVar Annotator: match by term: Sly syndrome OMIM
ClinVar
PMID:144057 PMID:1702266 PMID:1833732 PMID:1992472 PMID:6811712 More... NCBI chr 3:16,672,071...16,686,520
Ensembl chr 3:16,671,389...16,689,203
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14411
    Nutritional and Metabolic Diseases 5598
      disease of metabolism 5598
        inherited metabolic disorder 3897
          carbohydrate metabolic disorder 1981
            mucopolysaccharidosis 104
              Mucopolysaccharidoses, Unclassified Types 0
              Mucopolysaccharidosis VIII 0
              Mucopolysaccharidosis X 1
              Mucopolysaccharidosis-Plus Syndrome 1
              Sly syndrome 2
              mucopolysaccharidosis I + 39
              mucopolysaccharidosis II 1
              mucopolysaccharidosis III + 21
              mucopolysaccharidosis IV + 32
              mucopolysaccharidosis IX 1
              mucopolysaccharidosis VI 8
Path 2
Term Annotations click to browse term
  disease 14411
    Developmental Disease 11699
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10471
        genetic disease 10025
          inherited metabolic disorder 3897
            lysosomal storage disease 757
              mucopolysaccharidosis 104
                Mucopolysaccharidoses, Unclassified Types 0
                Mucopolysaccharidosis VIII 0
                Mucopolysaccharidosis X 1
                Mucopolysaccharidosis-Plus Syndrome 1
                Sly syndrome 2
                mucopolysaccharidosis I + 39
                mucopolysaccharidosis II 1
                mucopolysaccharidosis III + 21
                mucopolysaccharidosis IV + 32
                mucopolysaccharidosis IX 1
                mucopolysaccharidosis VI 8
paths to the root