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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 ARSG arylsulfatase G ISS OMIM:252700 MouseDO NCBI chr17:68,259,170...68,452,019
Ensembl chr17:68,259,182...68,422,731
JBrowse link
G ARSK arylsulfatase family member K ISS OMIM:252700 MouseDO NCBI chr 5:95,555,101...95,605,102
Ensembl chr 5:95,555,101...95,605,102
JBrowse link
G CARD14 caspase recruitment domain family member 14 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis ClinVar PMID:9158154 PMID:9285796 PMID:9401012 PMID:9700599 PMID:10601282 More... NCBI chr17:80,170,030...80,209,331
Ensembl chr17:80,169,992...80,209,331
JBrowse link
G GUSB glucuronidase beta disease_progression ISO protein:decreases activity:spleen, kidney, lung (rat) RGD PMID:2879381 RGD:42724461 NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,684...65,982,215
JBrowse link
G HGSNAT heparan-alpha-glucosaminide N-acetyltransferase IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis ClinVar PMID:17033958 PMID:18024218 PMID:19479962 PMID:19823584 PMID:20583299 More... NCBI chr 8:43,140,464...43,202,855
Ensembl chr 8:43,140,464...43,202,855
JBrowse link
G HYAL1 hyaluronidase 1 IAGP mucopolysaccharidosis IX, OMIM:601492 DNA:point_mutation,rearrangement:CDS:compound heterozygote G1412A -> amino acid E268K, 1361del37ins14 RGD PMID:10339581 RGD:1599811 NCBI chr 3:50,299,893...50,312,381
Ensembl chr 3:50,299,890...50,312,381
JBrowse link
G IDUA alpha-L-iduronidase IAGP ClinVar Annotator: match by term: IDUA pseudodeficiency ClinVar PMID:8554071 PMID:28492532 NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564
JBrowse link
G NAGLU N-acetyl-alpha-glucosaminidase IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis ClinVar PMID:8650226 PMID:9443875 PMID:9832037 PMID:9950362 PMID:10094189 More... NCBI chr17:42,536,241...42,544,449
Ensembl chr17:42,536,241...42,544,449
JBrowse link
G SGSH N-sulfoglucosamine sulfohydrolase IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis ClinVar PMID:9158154 PMID:9285796 PMID:9401012 PMID:9554748 PMID:9700599 More... NCBI chr17:80,200,673...80,220,333
Ensembl chr17:80,206,716...80,220,923
JBrowse link
mucopolysaccharidosis I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADD1 adducin 1 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 4:2,843,844...2,930,062
Ensembl chr 4:2,843,844...2,930,076
JBrowse link
G ATP5ME ATP synthase membrane subunit e IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 4:672,436...674,276
Ensembl chr 4:672,436...674,330
JBrowse link
G C4orf48 chromosome 4 open reading frame 48 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 4:2,036,554...2,043,964
Ensembl chr 4:2,041,995...2,043,964
JBrowse link
G CPLX1 complexin 1 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129
JBrowse link
G CTBP1 C-terminal binding protein 1 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333
JBrowse link
G DGKQ diacylglycerol kinase theta IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 4:958,887...973,569
Ensembl chr 4:958,887...986,895
JBrowse link
G FAM193A family with sequence similarity 193 member A IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 4:2,535,375...2,732,573
Ensembl chr 4:2,536,647...2,732,573
JBrowse link
G FAM53A family with sequence similarity 53 member A IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 4:1,574,062...1,686,017
Ensembl chr 4:1,617,915...1,684,313
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,009,936...1,026,898
JBrowse link
G GAK cyclin G associated kinase IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 4:849,277...932,316
Ensembl chr 4:849,276...932,373
JBrowse link
G HAUS3 HAUS augmin like complex subunit 3 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 4:2,228,349...2,242,121
Ensembl chr 4:2,078,998...2,242,276
JBrowse link
G IDUA alpha-L-iduronidase treatment IAGP
EXP
IEP
IDA
ISO
IMP
DNA:nonsense mutation:CDS:p.W402X (human)
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1
ClinVar Annotator: match by term: Alpha-L-Iduronidase deficiency
ClinVar Annotator: match by term: Mucopolysaccharidosis type I
CTD Direct Evidence: marker/mechanism|therapeutic
DNA:missense mutations, nonsense mutation: :multiple
DNA:missense mutation, nonsense mutation: :p.P533R, p.Q10X (human)
DNA:mutations:exon, intron:multiple
DNA:insertion/deletion, missense mutations, nonsense mutation: :multiple
DNA:splice-site mutations:intron:c.792+1G>T, c.1190-1G>A (human)
DNA:insertion, missense mutation: :704_705CTGCT, p.R89Q (human)
DNA:nonsense mutation: :p.W392X (mouse)
ClinVar
CTD
RGD
PMID:1301196 PMID:1301941 PMID:1505961 PMID:1550122 PMID:1627351 More... RGD:1599894, RGD:11069860, RGD:11068482, RGD:12910721, RGD:12910720, RGD:12910719, RGD:12910718, RGD:12910716, RGD:12910516, RGD:12910513, RGD:12910510, RGD:12910509, RGD:12910508, RGD:12910504, RGD:12910503, RGD:12910502, RGD:12910501, RGD:12910499, RGD:12910497 NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564
JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
JBrowse link
G MAEA macrophage erythroblast attacher, E3 ubiquitin ligase IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 4:1,289,891...1,340,137
Ensembl chr 4:1,289,887...1,340,147
JBrowse link
G MXD4 MAX dimerization protein 4 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 4:2,247,432...2,262,109
Ensembl chr 4:2,247,432...2,262,109
JBrowse link
G MYL5 myosin light chain 5 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 4:674,542...682,028
Ensembl chr 4:673,580...682,028
JBrowse link
G NAT8L N-acetyltransferase 8 like IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 4:2,059,327...2,069,089
Ensembl chr 4:2,059,327...2,069,089
JBrowse link
G NELFA negative elongation factor complex member A IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 4:1,982,723...2,008,974
Ensembl chr 4:1,982,717...2,041,903
JBrowse link
G NKX1-1 NK1 homeobox 1 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 4:1,402,932...1,406,442
Ensembl chr 4:1,402,932...1,406,442
JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207
JBrowse link
G PCGF3 polycomb group ring finger 3 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 4:705,832...770,089
Ensembl chr 4:705,748...770,089
JBrowse link
G PDE6B phosphodiesterase 6B IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 4:625,573...670,782
Ensembl chr 4:625,573...670,782
JBrowse link
G PIGG phosphatidylinositol glycan anchor biosynthesis class G IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200
JBrowse link
G POLN DNA polymerase nu IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 4:2,071,918...2,242,121
Ensembl chr 4:2,071,918...2,242,121
JBrowse link
G RNF212 ring finger protein 212 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 4:1,056,251...1,113,710
Ensembl chr 4:1,056,250...1,113,564
JBrowse link
G RNF4 ring finger protein 4 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 4:2,469,106...2,515,857
Ensembl chr 4:2,462,220...2,625,320
JBrowse link
G SH3BP2 SH3 domain binding protein 2 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 4:2,793,085...2,841,096
Ensembl chr 4:2,793,071...2,841,098
JBrowse link
G SLBP stem-loop binding protein IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 4:1,692,731...1,712,319
Ensembl chr 4:1,692,731...1,712,344
JBrowse link
G SLC26A1 solute carrier family 26 member 1 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type I
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1
ClinVar Annotator: match by term: Alpha-L-Iduronidase deficiency
ClinVar PMID:1301941 PMID:1505961 PMID:6821579 PMID:7550232 PMID:7550242 More... NCBI chr 4:978,991...993,404
Ensembl chr 4:979,073...993,440
JBrowse link
G SLC49A3 solute carrier family 49 member 3 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 4:676,826...691,624
Ensembl chr 4:681,829...689,271
JBrowse link
G SPON2 spondin 2 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 4:1,166,932...1,208,844
Ensembl chr 4:1,166,932...1,208,962
JBrowse link
G TACC3 transforming acidic coiled-coil containing protein 3 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 4:1,721,521...1,745,171
Ensembl chr 4:1,712,858...1,745,171
JBrowse link
G TMEM129 transmembrane protein 129, E3 ubiquitin ligase IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 4:1,715,952...1,721,323
Ensembl chr 4:1,715,952...1,721,358
JBrowse link
G TMEM175 transmembrane protein 175 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 4:932,460...958,656
Ensembl chr 4:932,387...958,656
JBrowse link
G TNIP2 TNFAIP3 interacting protein 2 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 4:2,741,648...2,756,336
Ensembl chr 4:2,741,648...2,756,342
JBrowse link
G UVSSA UV stimulated scaffold protein A IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 4:1,342,011...1,395,989
Ensembl chr 4:1,345,691...1,395,989
JBrowse link
G ZFYVE28 zinc finger FYVE-type containing 28 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 4:2,269,597...2,418,645
Ensembl chr 4:2,269,582...2,418,651
JBrowse link
G ZNF721 zinc finger protein 721 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 4:439,988...499,156
Ensembl chr 4:425,815...499,156
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 IAGP ClinVar Annotator: match by term: Hurler syndrome
ClinVar Annotator: match by term: Gargoylism, Hurler Syndrome
ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH
ClinVar Annotator: match by term: Dysostosis multiplex
OMIM
ClinVar
PMID:1301196 PMID:1301941 PMID:1505961 PMID:1550122 PMID:2170400 More... NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564
JBrowse link
G PITX1 paired like homeodomain 1 IAGP ClinVar Annotator: match by term: Dysostosis multiplex ClinVar PMID:25741868 NCBI chr 5:135,027,734...135,034,789
Ensembl chr 5:135,027,734...135,034,813
JBrowse link
G SLC26A1 solute carrier family 26 member 1 IAGP ClinVar Annotator: match by term: Dysostosis multiplex
ClinVar Annotator: match by term: Hurler syndrome
ClinVar Annotator: match by term: Gargoylism, Hurler Syndrome
ClinVar PMID:1301941 PMID:1505961 PMID:6821579 PMID:7550232 PMID:7951228 More... NCBI chr 4:978,991...993,404
Ensembl chr 4:979,073...993,440
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 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-I-H/S
ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH/S
OMIM
ClinVar
PMID:1301196 PMID:1301941 PMID:1505961 PMID:4221470 PMID:7550232 More... NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564
JBrowse link
G SLC26A1 solute carrier family 26 member 1 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-I-H/S
ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH/S
ClinVar PMID:1301941 PMID:1505961 PMID:7951228 PMID:8213840 PMID:8401515 More... NCBI chr 4:978,991...993,404
Ensembl chr 4:979,073...993,440
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 IAGP DNA:point_mutation:CDS:C1327T -> amino acid R443X
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-II
ClinVar Annotator: match by term: Mucopolysaccharidosis, type II, mild form
ClinVar Annotator: match by term: SIDS deficiency
ClinVar Annotator: match by term: Mucopolysaccharidosis, type II, severe form
ClinVar Annotator: match by term: SULFOIDURONATE SULFATASE DEFICIENCY
DNA:mutations:exon, intron:multiple
ClinVar
OMIM
RGD
PMID:1284597 PMID:1303211 PMID:1355630 PMID:1550586 PMID:1639384 More... RGD:1599819, RGD:12910721 NCBI chr  X:149,476,988...149,505,306
Ensembl chr  X:149,476,988...149,521,096
JBrowse link
G LOC106050102 IDS recombination region IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-II
ClinVar Annotator: match by term: Mucopolysaccharidosis, type II, mild form
ClinVar PMID:1303211 PMID:1355630 PMID:1639384 PMID:1906048 PMID:8111411 More... NCBI chr  X:149,486,745...149,503,070 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 IAGP ClinVar Annotator: match by term: Sanfilippo syndrome ClinVar PMID:9158154 PMID:9285796 PMID:9401012 PMID:9700599 PMID:10601282 More... NCBI chr17:80,170,030...80,209,331
Ensembl chr17:80,169,992...80,209,331
JBrowse link
G COASY Coenzyme A synthase susceptibility IAGP DNA:nonsense mutation, splice-site mutation, missense mutations:multiple RGD PMID:11153910 RGD:1642057 NCBI chr17:42,562,148...42,566,277
Ensembl chr17:42,561,467...42,566,277
JBrowse link
G GNS glucosamine (N-acetyl)-6-sulfatase IAGP
EXP
mucopolysaccharidosis type IIID (OMIM:252940)
ClinVar Annotator: match by term: Sanfilippo syndrome
ClinVar Annotator: match by term: Sanfilippo disease
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:3391615 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20232353 More... RGD:1599248 NCBI chr12:64,713,449...64,759,406
Ensembl chr12:64,713,445...64,759,431
JBrowse link
G HGSNAT heparan-alpha-glucosaminide N-acetyltransferase IAGP
EXP
ClinVar Annotator: match by term: Sanfilippo syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16199547 PMID:16960811 PMID:17033958 PMID:17397050 PMID:18024218 More... NCBI chr 8:43,140,464...43,202,855
Ensembl chr 8:43,140,464...43,202,855
JBrowse link
G IDS iduronate 2-sulfatase IAGP ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency ClinVar PMID:21291454 PMID:25741868 PMID:28492532 NCBI chr  X:149,476,988...149,505,306
Ensembl chr  X:149,476,988...149,521,096
JBrowse link
G LOC106050102 IDS recombination region IAGP ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency ClinVar PMID:21291454 PMID:25741868 PMID:28492532 NCBI chr  X:149,486,745...149,503,070 JBrowse link
G NAGLU N-acetyl-alpha-glucosaminidase IAGP
EXP
IDA
ISO
IEP
DNA:mutations:multiple (human)
ClinVar Annotator: match by term: N-acetyl-alpha-d-glucosaminidase deficiency
ClinVar Annotator: match by term: Sanfilippo syndrome
CTD Direct Evidence: marker/mechanism
human protein in mouse model
protein:decreased activity:skin fibroblast, liver (human)
ClinVar
CTD
RGD
PMID:8650226 PMID:9443875 PMID:9950362 PMID:10094189 PMID:14984474 More... RGD:7241018, RGD:7241016, RGD:7241013, RGD:7241012 NCBI chr17:42,536,241...42,544,449
Ensembl chr17:42,536,241...42,544,449
JBrowse link
G SGSH N-sulfoglucosamine sulfohydrolase IAGP
EXP
ClinVar Annotator: match by term: Sanfilippo syndrome
ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:9158154 PMID:9285796 PMID:9401012 PMID:9554748 PMID:9700599 More... RGD:1580333 NCBI chr17:80,200,673...80,220,333
Ensembl chr17:80,206,716...80,220,923
JBrowse link
mucopolysaccharidosis IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APRT adenine phosphoribosyltransferase IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, Type IV
ClinVar Annotator: match by term: Morquio syndrome
ClinVar PMID:25741868 PMID:28492532 NCBI chr16:88,809,339...88,811,928
Ensembl chr16:88,809,339...88,811,937
JBrowse link
G CCL11 C-C motif chemokine ligand 11 IEP protein:decreased expression:plasma RGD PMID:22176730 RGD:7247741 NCBI chr17:34,285,742...34,288,334
Ensembl chr17:34,285,742...34,288,334
JBrowse link
G GALNS galactosamine (N-acetyl)-6-sulfatase IAGP
EXP
ClinVar Annotator: match by term: Mucopolysaccharidosis, Type IV
ClinVar Annotator: match by term: Morquio syndrome
ClinVar Annotator: match by term: Galactosamine-6-sulfatase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:7633425 PMID:7668283 PMID:7795586 PMID:8829629 PMID:9298823 More... NCBI chr16:88,813,734...88,856,947
Ensembl chr16:88,813,734...88,856,970
JBrowse link
G GLB1 galactosidase beta 1 IAGP
EXP
Morquio disease type B
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mucopolysaccharidosis, Type IV
DNA:mutation:998 A > G (p.Y333C)(human)
CTD
ClinVar
RGD
PMID:1928092 PMID:7586649 PMID:11511921 PMID:19091613 RGD:1598984, RGD:12910454 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202
JBrowse link
G TMPPE transmembrane protein with metallophosphoesterase domain IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, Type IV ClinVar NCBI chr 3:33,090,422...33,097,146
Ensembl chr 3:33,090,421...33,097,146
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 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:89,093,852...89,156,233
Ensembl chr16:89,088,375...89,164,121
JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,630...89,490,561
JBrowse link
G APRT adenine phosphoribosyltransferase IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:10479485 PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chr16:88,809,339...88,811,928
Ensembl chr16:88,809,339...88,811,937
JBrowse link
G BANP BTG3 associated nuclear protein IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:87,949,238...88,077,318
Ensembl chr16:87,949,244...88,077,318
JBrowse link
G CA5A carbonic anhydrase 5A IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:87,881,549...87,936,529
Ensembl chr16:87,881,546...87,936,580
JBrowse link
G CBFA2T3 CBFA2/RUNX1 partner transcriptional co-repressor 3 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:88,874,858...88,977,207
Ensembl chr16:88,874,858...88,977,207
JBrowse link
G CDH15 cadherin 15 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:89,171,748...89,195,492
Ensembl chr16:89,171,748...89,195,492
JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258
JBrowse link
G CHMP1A charged multivesicular body protein 1A IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:89,644,435...89,657,708
Ensembl chr16:89,640,816...89,657,738
JBrowse link
G CPNE7 copine 7 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:89,575,758...89,597,246
Ensembl chr16:89,575,758...89,597,246
JBrowse link
G CTU2 cytosolic thiouridylase subunit 2 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:88,706,503...88,715,396
Ensembl chr16:88,706,483...88,715,396
JBrowse link
G CYBA cytochrome b-245 alpha chain IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:88,643,289...88,651,053
Ensembl chr16:88,643,275...88,651,083
JBrowse link
G DPEP1 dipeptidase 1 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:89,613,308...89,641,540
Ensembl chr16:89,613,308...89,638,456
JBrowse link
G GALNS galactosamine (N-acetyl)-6-sulfatase IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A OMIM
ClinVar
PMID:1522213 PMID:7581409 PMID:7633425 PMID:7668283 PMID:7795586 More... NCBI chr16:88,813,734...88,856,947
Ensembl chr16:88,813,734...88,856,970
JBrowse link
G IL17C interleukin 17C IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:88,638,572...88,640,468
Ensembl chr16:88,638,572...88,640,468
JBrowse link
G JPH3 junctophilin 3 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:87,601,835...87,698,156
Ensembl chr16:87,601,835...87,698,156
JBrowse link
G KLHDC4 kelch domain containing 4 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:87,698,146...87,765,986
Ensembl chr16:87,696,485...87,765,992
JBrowse link
G LOC101927817 uncharacterized LOC101927817 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:89,430,918...89,454,494 JBrowse link
G MVD mevalonate diphosphate decarboxylase IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:88,651,940...88,663,091
Ensembl chr16:88,651,935...88,663,161
JBrowse link
G PABPN1L PABPN1 like, cytoplasmic IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:88,863,333...88,870,135
Ensembl chr16:88,863,333...88,866,660
JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chr16:88,715,338...88,785,220
Ensembl chr16:88,715,338...88,785,220
JBrowse link
G RNF166 ring finger protein 166 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:88,696,501...88,706,408
Ensembl chr16:88,696,499...88,706,408
JBrowse link
G RPL13 ribosomal protein L13 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:89,560,657...89,566,829
Ensembl chr16:89,560,677...89,564,542
JBrowse link
G SLC22A31 solute carrier family 22 member 31 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:89,195,761...89,201,678
Ensembl chr16:89,195,761...89,201,651
JBrowse link
G SLC7A5 solute carrier family 7 member 5 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:87,830,023...87,869,507
Ensembl chr16:87,830,023...87,869,507
JBrowse link
G SNAI3 snail family transcriptional repressor 3 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:88,677,688...88,686,507
Ensembl chr16:88,677,688...88,686,507
JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:89,508,388...89,557,768
Ensembl chr16:89,490,719...89,557,766
JBrowse link
G TRAPPC2L trafficking protein particle complex subunit 2L IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:7795586 PMID:8829629 PMID:9298823 PMID:9375852 PMID:9536098 More... NCBI chr16:88,856,220...88,862,678
Ensembl chr16:88,856,220...88,862,686
JBrowse link
G ZC3H18 zinc finger CCCH-type containing 18 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:88,570,403...88,631,964
Ensembl chr16:88,570,403...88,631,964
JBrowse link
G ZFPM1 zinc finger protein, FOG family member 1 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:88,451,769...88,537,031
Ensembl chr16:88,453,280...88,537,031
JBrowse link
G ZNF469 zinc finger protein 469 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:88,100,931...88,440,753
Ensembl chr16:88,382,959...88,440,757
JBrowse link
G ZNF778 zinc finger protein 778 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:89,201,970...89,237,141
Ensembl chr16:89,217,703...89,237,141
JBrowse link
mucopolysaccharidosis IX term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HYAL1 hyaluronidase 1 IAGP ClinVar Annotator: match by term: HYALURONIDASE DEFICIENCY
ClinVar Annotator: match by term: Deficiency of hyaluronoglucosaminidase
ClinVar
OMIM
PMID:8793927 PMID:10339581 PMID:21559944 PMID:25741868 PMID:27424109 More... NCBI chr 3:50,299,893...50,312,381
Ensembl chr 3:50,299,890...50,312,381
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 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A ClinVar PMID:9158154 PMID:9285796 PMID:9401012 PMID:9700599 PMID:10601282 More... NCBI chr17:80,170,030...80,209,331
Ensembl chr17:80,169,992...80,209,331
JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A ClinVar PMID:9536098 PMID:16465621 PMID:17576681 PMID:19617216 PMID:19938078 More... NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959
JBrowse link
G IDS iduronate 2-sulfatase IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A ClinVar PMID:1303211 PMID:1550586 PMID:8318991 PMID:18414213 PMID:21291454 More... NCBI chr  X:149,476,988...149,505,306
Ensembl chr  X:149,476,988...149,521,096
JBrowse link
G LOC106050102 IDS recombination region IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A ClinVar PMID:21291454 PMID:25741868 PMID:27848944 PMID:28492532 NCBI chr  X:149,486,745...149,503,070 JBrowse link
G SGSH N-sulfoglucosamine sulfohydrolase IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A ClinVar
OMIM
PMID:7493035 PMID:9158154 PMID:9285796 PMID:9401012 PMID:9536098 More... NCBI chr17:80,200,673...80,220,333
Ensembl chr17:80,206,716...80,220,923
JBrowse link
mucopolysaccharidosis type IIIB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NAGLU N-acetyl-alpha-glucosaminidase IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B
ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIB (Sanfilippo B)
ClinVar Annotator: match by term: Sanfilippo syndrome B
ClinVar
OMIM
PMID:8650226 PMID:9443875 PMID:9443878 PMID:9536098 PMID:9832037 More... NCBI chr17:42,536,241...42,544,449
Ensembl chr17:42,536,241...42,544,449
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 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C ClinVar PMID:28492532 NCBI chr 8:43,056,323...43,085,785
Ensembl chr 8:43,034,194...43,085,788
JBrowse link
G HGSNAT heparan-alpha-glucosaminide N-acetyltransferase IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C
ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE IIIC
OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16960811 PMID:17033958 PMID:17397050 More... NCBI chr 8:43,140,464...43,202,855
Ensembl chr 8:43,140,464...43,202,855
JBrowse link
G LOC121740716 Sharpr-MPRA regulatory region 5985 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C ClinVar PMID:28492532 NCBI chr 8:43,139,126...43,139,420 JBrowse link
G POMK protein O-mannose kinase IAGP ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE IIIC
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C
ClinVar PMID:17033958 PMID:19479962 PMID:28492532 NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180
JBrowse link
G POTEA POTE ankyrin domain family member A IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C ClinVar PMID:28492532 NCBI chr 8:43,292,370...43,365,175
Ensembl chr 8:43,292,483...43,363,518
JBrowse link
mucopolysaccharidosis type IIID term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C12orf56 chromosome 12 open reading frame 56 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr12:64,264,762...64,390,758
Ensembl chr12:64,264,762...64,390,758
JBrowse link
G GNS glucosamine (N-acetyl)-6-sulfatase IAGP ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE IIID
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D
ClinVar
OMIM
PMID:3100754 PMID:6450420 PMID:9536098 PMID:12573255 PMID:12624138 More... NCBI chr12:64,713,449...64,759,406
Ensembl chr12:64,713,445...64,759,431
JBrowse link
G KICS2 KICSTOR subunit 2 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr12:64,186,316...64,222,296
Ensembl chr12:64,186,316...64,222,296
JBrowse link
G LEMD3 LEM domain containing 3 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355
JBrowse link
G MOK MOK protein kinase IAGP ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE IIID ClinVar PMID:25741868 NCBI chr14:102,214,596...102,305,164
Ensembl chr14:102,224,500...102,305,190
JBrowse link
G MSRB3 methionine sulfoxide reductase B3 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr12:65,278,683...65,466,907
Ensembl chr12:65,278,643...65,491,430
JBrowse link
G RASSF3 Ras association domain family member 3 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr12:64,506,964...64,697,564
Ensembl chr12:64,507,001...64,697,564
JBrowse link
G RXYLT1 ribitol xylosyltransferase 1 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr12:63,779,909...63,809,562
Ensembl chr12:63,779,833...63,809,792
JBrowse link
G SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr12:63,844,700...64,162,217
Ensembl chr12:63,843,761...64,162,217
JBrowse link
G TBC1D30 TBC1 domain family member 30 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr12:64,759,484...64,881,033
Ensembl chr12:64,759,484...64,881,033
JBrowse link
G TBK1 TANK binding kinase 1 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr12:64,452,120...64,502,114
Ensembl chr12:64,452,090...64,502,114
JBrowse link
G WIF1 WNT inhibitory factor 1 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr12:65,050,626...65,121,305
Ensembl chr12:65,050,626...65,121,305
JBrowse link
G XPOT exportin for tRNA IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr12:64,404,392...64,451,125
Ensembl chr12:64,404,392...64,451,125
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 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-B OMIM
ClinVar
PMID:1353343 PMID:1487238 PMID:1907800 PMID:1909089 PMID:1928092 More... NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202
JBrowse link
G TMPPE transmembrane protein with metallophosphoesterase domain IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-B ClinVar PMID:8198123 PMID:8199591 PMID:9536098 PMID:16199547 PMID:16941474 More... NCBI chr 3:33,090,422...33,097,146
Ensembl chr 3:33,090,421...33,097,146
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 chr21:26,917,922...26,967,088
Ensembl chr21:26,917,922...26,967,088
JBrowse link
G AP3B1 adaptor related protein complex 3 subunit beta 1 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 ClinVar PMID:10036316 PMID:17458871 PMID:18486607 PMID:28492532 NCBI chr 5:78,000,522...78,294,698
Ensembl chr 5:78,000,522...78,294,762
JBrowse link
G ARSB arylsulfatase B susceptibility
treatment
IAGP
ISO
EXP
ClinVar Annotator: match by term: Mucopolysaccharidosis type 6
ClinVar Annotator: match by term: Mucopolysaccharidosis, type vi, severe
ClinVar Annotator: match by term: Mucopolysaccharidosis, type vi, mild
ClinVar Annotator: match by term: Mucopolysaccharidosis type VI
ClinVar Annotator: match by term: Mucopolysaccharidosis, type vi, intermediate
CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:507InsC(rat)
ClinVar
CTD
OMIM
RGD
PMID:1301949 PMID:1550123 PMID:1718978 PMID:4974081 PMID:7733883 More... RGD:1599228, RGD:39131283, RGD:631738 NCBI chr 5:78,777,209...78,985,958
Ensembl chr 5:78,777,209...78,986,087
JBrowse link
G GUSB glucuronidase beta IAGP ClinVar Annotator: match by term: Maroteaux Lamy syndrome ClinVar PMID:7573038 PMID:8089138 PMID:8644704 PMID:9490302 PMID:9921904 More... NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,684...65,982,215
JBrowse link
G LHFPL2 LHFPL tetraspan subfamily member 2 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 ClinVar PMID:10036316 PMID:17458871 PMID:18486607 PMID:28492532 NCBI chr 5:78,485,230...78,648,772
Ensembl chr 5:78,485,215...78,770,021
JBrowse link
G LOC123497917 Sharpr-MPRA regulatory region 14877 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 ClinVar PMID:8144552 PMID:17458871 PMID:17643332 PMID:18406185 PMID:25654180 More... NCBI chr 5:78,841,826...78,842,120 JBrowse link
G SCAMP1 secretory carrier membrane protein 1 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 ClinVar PMID:10036316 PMID:17458871 PMID:18486607 PMID:28492532 NCBI chr 5:78,360,617...78,480,739
Ensembl chr 5:78,360,611...78,480,739
JBrowse link
G TNF tumor necrosis factor treatment ISO RGD PMID:21887218 RGD:39131283 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFSF11 TNF superfamily member 11 treatment ISO RGD PMID:21887218 RGD:39131283 NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013
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 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis, type X OMIM
ClinVar
PMID:34916232 NCBI chr 5:95,555,101...95,605,102
Ensembl chr 5:95,555,101...95,605,102
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 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis-plus syndrome OMIM
ClinVar
PMID:25741868 PMID:27547915 PMID:28013294 PMID:31070736 NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,494
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 IAGP ClinVar Annotator: match by term: Scheie Syndrome
ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE V
OMIM
ClinVar
PMID:1301196 PMID:1301941 PMID:1505961 PMID:1550122 PMID:2170400 More... NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564
JBrowse link
G SLC26A1 solute carrier family 26 member 1 IAGP ClinVar Annotator: match by term: Scheie Syndrome
ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE V
ClinVar PMID:1301941 PMID:1505961 PMID:7951228 PMID:8401515 PMID:9427149 More... NCBI chr 4:978,991...993,404
Ensembl chr 4:979,073...993,440
JBrowse link
Sly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASL argininosuccinate lyase IAGP ClinVar Annotator: match by term: Sly syndrome ClinVar PMID:19224584 PMID:28492532 NCBI chr 7:66,075,819...66,093,576
Ensembl chr 7:66,075,800...66,094,697
JBrowse link
G GUSB glucuronidase beta IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type VII
ClinVar Annotator: match by term: Sly syndrome
ClinVar Annotator: match by term: MPS VII
ClinVar
OMIM
PMID:144057 PMID:1702266 PMID:1833732 PMID:1992472 PMID:6811712 More... NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,684...65,982,215
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 22067
    Nutritional and Metabolic Diseases 7386
      disease of metabolism 7386
        inherited metabolic disorder 4945
          carbohydrate metabolic disorder 2519
            mucopolysaccharidosis 114
              Mucopolysaccharidoses, Unclassified Types 0
              Mucopolysaccharidosis VIII 0
              Mucopolysaccharidosis X 1
              Mucopolysaccharidosis-Plus Syndrome 1
              Sly syndrome 2
              mucopolysaccharidosis I + 40
              mucopolysaccharidosis II 2
              mucopolysaccharidosis III + 25
              mucopolysaccharidosis IV + 35
              mucopolysaccharidosis IX 1
              mucopolysaccharidosis VI 9
Path 2
Term Annotations click to browse term
  disease 22067
    Developmental Disease 16495
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 14196
        genetic disease 13570
          inherited metabolic disorder 4945
            lysosomal storage disease 836
              mucopolysaccharidosis 114
                Mucopolysaccharidoses, Unclassified Types 0
                Mucopolysaccharidosis VIII 0
                Mucopolysaccharidosis X 1
                Mucopolysaccharidosis-Plus Syndrome 1
                Sly syndrome 2
                mucopolysaccharidosis I + 40
                mucopolysaccharidosis II 2
                mucopolysaccharidosis III + 25
                mucopolysaccharidosis IV + 35
                mucopolysaccharidosis IX 1
                mucopolysaccharidosis VI 9
paths to the root