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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 chr10:94,412,261...94,551,224
Ensembl chr10:94,447,399...94,542,941 		JBrowse link
G Arsk arylsulfatase family, member K ISS OMIM:252700 MouseDO NCBI chr 2:5,575,727...5,631,370
Ensembl chr 2:5,574,322...5,631,467 		JBrowse link
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 chr10:104,572,059...104,601,606
Ensembl chr10:104,566,424...104,601,905 		JBrowse link
G Gusb glucuronidase, beta disease_progression IEP protein:decreases activity:spleen, kidney, lung (rat) RGD PMID:2879381 RGD:42724461 NCBI chr12:26,701,191...26,714,718
Ensembl chr12:26,697,951...26,726,905 		JBrowse link
G Hgsnat 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 chr16:66,105,233...66,137,444
Ensembl chr16:66,105,181...66,136,138 		JBrowse link
G Hyal1 hyaluronidase 1 ISO mucopolysaccharidosis IX, OMIM:601492 RGD PMID:10339581 RGD:1599811 NCBI chr 8:108,250,654...108,254,526
Ensembl chr 8:108,250,667...108,260,210 		JBrowse link
G Idua alpha-L-iduronidase ISO ClinVar Annotator: match by term: IDUA pseudodeficiency ClinVar PMID:8554071 PMID:28492532 NCBI chr14:1,031,588...1,059,494
Ensembl chr14:1,032,171...1,046,522 		JBrowse link
G Naglu N-acetyl-alpha-glucosaminidase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis ClinVar PMID:8650226 PMID:9443875 PMID:9832037 PMID:9950362 PMID:10094189 More... NCBI chr10:86,001,545...86,009,049
Ensembl chr10:86,001,566...86,008,972 		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 chr10:104,596,810...104,613,510
Ensembl chr10:104,598,112...104,613,486 		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 chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182 		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 chr14:1,319,868...1,320,996
Ensembl chr14:1,319,868...1,321,013 		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 chr14:1,184,638...1,216,392 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 chr14:77,455,580...77,482,821
Ensembl chr14:77,455,696...77,482,821 		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 chr14:1,059,125...1,073,131
Ensembl chr14:1,059,170...1,073,131 		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 chr14:76,250,103...76,382,525
Ensembl chr14:76,256,161...76,382,514 		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 chr14:77,088,178...77,124,395
Ensembl chr14:77,090,723...77,124,395 		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 chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341 		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 chr14:1,009,863...1,022,620
Ensembl chr14:1,009,786...1,021,928 		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 chr14:1,089,853...1,164,098
Ensembl chr14:1,089,866...1,216,398 		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 chr14:76,580,549...76,599,542
Ensembl chr14:76,580,546...76,752,463 		JBrowse link
G Idua alpha-L-iduronidase treatment ISO DNA:nonsense mutation:CDS:p.W402X (human)
ClinVar Annotator: match by term: Alpha-L-Iduronidase deficiency | ClinVar Annotator: match by term: Mucopolysaccharidosis type 1
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)
CTD Direct Evidence: marker/mechanism|therapeutic		 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 chr14:1,031,588...1,059,494
Ensembl chr14:1,032,171...1,046,522 		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 chr14:76,942,647...76,982,220
Ensembl chr14:76,942,729...76,984,904 		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 chr14:77,357,261...77,390,683
Ensembl chr14:77,357,264...77,390,671 		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 chr14:76,562,105...76,576,224
Ensembl chr14:76,561,774...76,576,221 		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 chr14:76,756,077...76,762,712
Ensembl chr14:76,756,077...76,763,411 		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 chr14:76,808,920...76,832,998
Ensembl chr14:76,808,870...76,832,994 		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 chr14:77,296,676...77,300,575
Ensembl chr14:77,296,796...77,300,036 		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 chr14:76,833,194...76,911,304
Ensembl chr14:76,835,637...76,913,641 		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 chr14:1,237,594...1,291,717
Ensembl chr14:1,233,947...1,291,793 		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 chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450 		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 chr14:1,404,911...1,433,199
Ensembl chr14:1,406,798...1,433,187 		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 chr14:76,579,983...76,752,460
Ensembl chr14:76,580,546...76,752,463 		JBrowse link
G RGD1560394 RGD1560394 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr14:76,768,145...76,769,774
Ensembl chr14:76,768,146...76,773,575 		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 chr14:949,397...988,377
Ensembl chr14:949,448...987,831 		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 chr14:76,401,292...76,423,270
Ensembl chr14:76,401,299...76,422,566 		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 chr14:76,176,097...76,213,331
Ensembl chr14:76,176,101...76,213,251 		JBrowse link
G Slbp stem-loop binding protein ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr14:77,071,441...77,081,911
Ensembl chr14:77,071,632...77,081,906 		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 chr14:1,040,565...1,045,851
Ensembl chr14:1,040,243...1,045,849 		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 chr14:1,305,091...1,319,723
Ensembl chr14:1,305,680...1,314,132 		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 chr14:77,505,695...77,518,001
Ensembl chr14:77,511,901...77,517,996 		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 chr14:77,051,209...77,065,343
Ensembl chr14:77,051,215...77,065,219 		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 chr14:77,065,391...77,070,871
Ensembl chr14:77,065,841...77,070,865 		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 chr14:1,073,410...1,089,764
Ensembl chr14:1,073,523...1,089,819 		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 chr14:76,228,283...76,246,609
Ensembl chr14:76,228,371...76,275,265 		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 chr14:77,309,188...77,351,922
Ensembl chr14:77,314,056...77,351,903 		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 chr14:76,468,424...76,554,039
Ensembl chr14:76,468,424...76,554,039 		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 chr14:1,031,588...1,059,494
Ensembl chr14:1,032,171...1,046,522 		JBrowse link
G Pitx1 paired-like homeodomain 1 ISO ClinVar Annotator: match by term: Hurler syndrome ClinVar PMID:25741868 NCBI chr17:8,794,134...8,800,292
Ensembl chr17:8,794,134...8,800,291 		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:7550242 More... NCBI chr14:1,040,565...1,045,851
Ensembl chr14:1,040,243...1,045,849 		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 chr14:1,031,588...1,059,494
Ensembl chr14:1,032,171...1,046,522 		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:7550242 PMID:7951228 PMID:8213840 More... NCBI chr14:1,040,565...1,045,851
Ensembl chr14:1,040,243...1,045,849 		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
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:149,025,977...149,046,639
Ensembl chr  X:149,025,976...149,046,663 		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 chr10:104,572,059...104,601,606
Ensembl chr10:104,566,424...104,601,905 		JBrowse link
G Coasy Coenzyme A synthase susceptibility ISO DNA:nonsense mutation, splice-site mutation, missense mutations:multiple RGD PMID:11153910 RGD:1642057 NCBI chr10:86,014,566...86,018,849
Ensembl chr10:86,014,597...86,018,841 		JBrowse link
G Gns glucosamine (N-acetyl)-6-sulfatase ISO mucopolysaccharidosis type IIID (OMIM:252940)
ClinVar Annotator: match by term: Sanfilippo syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:3391615 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20232353 More... RGD:1599248 NCBI chr 7:56,889,139...56,923,170
Ensembl chr 7:56,889,232...56,923,151 		JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sanfilippo syndrome		 CTD
ClinVar		 PMID:16199547 PMID:16960811 PMID:17033958 PMID:17397050 PMID:18024218 More... NCBI chr16:66,105,233...66,137,444
Ensembl chr16:66,105,181...66,136,138 		JBrowse link
G Ids iduronate 2-sulfatase ISO ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency ClinVar PMID:1303211 PMID:1550586 PMID:8318991 PMID:18414213 PMID:25741868 More... NCBI chr  X:149,025,977...149,046,639
Ensembl chr  X:149,025,976...149,046,663 		JBrowse link
G Naglu N-acetyl-alpha-glucosaminidase ISO 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 chr10:86,001,545...86,009,049
Ensembl chr10:86,001,566...86,008,972 		JBrowse link
G Sgsh N-sulfoglucosamine sulfohydrolase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency | ClinVar Annotator: match by term: Sanfilippo syndrome		 CTD
ClinVar		 PMID:9158154 PMID:9285796 PMID:9401012 PMID:9554748 PMID:9700599 More... NCBI chr10:104,596,810...104,613,510
Ensembl chr10:104,598,112...104,613,486 		JBrowse link
mucopolysaccharidosis IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aprt adenine phosphoribosyl transferase ISO ClinVar Annotator: match by term: Galactosamine-6-sulfatase deficiency | ClinVar Annotator: match by term: Morquio syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr19:50,626,436...50,628,404
Ensembl chr19:50,626,202...50,628,431 		JBrowse link
G Ccl11 C-C motif chemokine ligand 11 ISO protein:decreased expression:plasma RGD PMID:22176730 RGD:7247741 NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926 		JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Galactosamine-6-sulfatase deficiency | ClinVar Annotator: match by term: Morquio syndrome		 CTD
ClinVar		 PMID:7633425 PMID:7668283 PMID:7795586 PMID:8829629 PMID:9298823 More... NCBI chr19:50,628,639...50,662,477
Ensembl chr19:50,628,552...50,662,246 		JBrowse link
G Glb1 galactosidase, beta 1 ISO Morquio disease type B
DNA:mutation:998 A > G (p.Y333C)(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Morquio syndrome		 CTD
ClinVar
RGD		 PMID:1928092 PMID:7586649 PMID:11511921 PMID:19091613 RGD:1598984, RGD:12910454 NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127 		JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Morquio syndrome ClinVar NCBI chr 8:114,085,524...114,093,388
Ensembl chr 8:114,084,831...114,094,286 		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 chr19:50,835,116...50,875,557
Ensembl chr19:50,835,221...50,875,553 		JBrowse link
G Ankrd11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:50,940,284...51,098,962
Ensembl chr19:50,940,299...51,098,962 		JBrowse link
G Aprt adenine phosphoribosyl transferase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:10479485 PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chr19:50,626,436...50,628,404
Ensembl chr19:50,626,202...50,628,431 		JBrowse link
G Banp Btg3 associated nuclear protein ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:50,007,710...50,082,742
Ensembl chr19:50,007,881...50,082,738 		JBrowse link
G Car5a carbonic anhydrase 5A ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:49,973,092...50,002,948
Ensembl chr19:49,973,107...50,002,906 		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 chr19:50,679,897...50,750,028
Ensembl chr19:50,680,729...50,749,610 		JBrowse link
G Cdh15 cadherin 15 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:50,903,757...50,927,151
Ensembl chr19:50,903,638...50,927,105 		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 chr19:50,620,713...50,625,659
Ensembl chr19:50,620,713...50,625,659 		JBrowse link
G Chmp1a charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:51,238,153...51,246,433
Ensembl chr19:51,238,160...51,246,436 		JBrowse link
G Cpne7 copine 7 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:51,164,316...51,182,677
Ensembl chr19:51,166,034...51,182,677 		JBrowse link
G Ctu2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:50,539,184...50,544,629
Ensembl chr19:50,539,352...50,544,623 		JBrowse link
G Cyba cytochrome b-245 alpha chain ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721 		JBrowse link
G Dpep1 dipeptidase 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:51,209,831...51,237,004
Ensembl chr19:51,219,660...51,235,257 		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 chr19:50,628,639...50,662,477
Ensembl chr19:50,628,552...50,662,246 		JBrowse link
G Il17c interleukin 17C ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:50,484,890...50,486,169
Ensembl chr19:50,484,890...50,486,169 		JBrowse link
G Jph3 junctophilin 3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:49,793,967...49,855,338
Ensembl chr19:49,793,092...49,855,338 		JBrowse link
G Klhdc4 kelch domain containing 4 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:49,860,975...49,894,027
Ensembl chr19:49,860,967...49,894,868 		JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:50,496,366...50,506,389
Ensembl chr19:50,496,367...50,507,971 		JBrowse link
G Pabpn1l PABPN1 like ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:50,669,965...50,673,409
Ensembl chr19:50,669,967...50,673,366 		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 chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501 		JBrowse link
G Rnf166 ring finger protein 166 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:50,529,434...50,539,274
Ensembl chr19:50,529,434...50,539,274 		JBrowse link
G Rpl13 ribosomal protein L13 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:51,153,990...51,156,541
Ensembl chr19:51,153,924...51,163,014 		JBrowse link
G Slc7a5 solute carrier family 7 member 5 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823 		JBrowse link
G Snai3 snail family transcriptional repressor 3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:50,516,771...50,529,295
Ensembl chr19:50,516,771...50,523,486 		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 chr19:50,662,507...50,666,193
Ensembl chr19:50,662,507...50,666,192 		JBrowse link
G Zc3h18 zinc finger CCCH-type containing 18 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:50,434,864...50,479,855
Ensembl chr19:50,434,903...50,479,854 		JBrowse link
G Zfp26 zinc finger protein 26 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 8:18,959,656...18,985,647
Ensembl chr 8:18,965,271...18,988,325 		JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:50,282,434...50,324,010 JBrowse link
G Zfpm1 zinc finger protein, multitype 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr19:50,334,352...50,391,029
Ensembl chr19:50,334,682...50,390,591 		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 chr 8:108,250,654...108,254,526
Ensembl chr 8:108,250,667...108,260,210 		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 chr10:104,572,059...104,601,606
Ensembl chr10:104,566,424...104,601,905 		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 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933 		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:19573456 More... NCBI chr  X:149,025,977...149,046,639
Ensembl chr  X:149,025,976...149,046,663 		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 chr10:104,596,810...104,613,510
Ensembl chr10:104,598,112...104,613,486 		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 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIB (Sanfilippo B) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B OMIM
ClinVar		 PMID:8650226 PMID:9443875 PMID:9443878 PMID:9536098 PMID:9832037 More... NCBI chr10:86,001,545...86,009,049
Ensembl chr10:86,001,566...86,008,972 		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 chr16:66,065,131...66,083,460
Ensembl chr16:66,065,132...66,083,460 		JBrowse link
G Hgsnat 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 chr16:66,105,233...66,137,444
Ensembl chr16:66,105,181...66,136,138 		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 chr16:66,085,569...66,101,360
Ensembl chr16:66,088,000...66,098,388 		JBrowse link
mucopolysaccharidosis type IIID term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C7h12orf56 similar to human chromosome 12 open reading frame 56 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 7:57,170,406...57,220,930
Ensembl chr 7:57,170,992...57,220,925 		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 7:56,889,139...56,923,170
Ensembl chr 7:56,889,232...56,923,151 		JBrowse link
G Kics2 KICSTOR subunit 2 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 7:57,284,213...57,299,070
Ensembl chr 7:57,284,192...57,297,486 		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 7:56,415,053...56,499,047
Ensembl chr 7:56,305,448...56,502,474 		JBrowse link
G Mok MOK protein kinase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:25741868 NCBI chr 6:129,823,794...129,854,669
Ensembl chr 6:129,823,795...129,854,700 		JBrowse link
G Msrb3 methionine sulfoxide reductase B3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 7:56,260,985...56,426,004
Ensembl chr 7:56,303,308...56,425,496 		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 7:56,935,894...57,000,591
Ensembl chr 7:56,935,973...57,000,553 		JBrowse link
G Rxylt1 ribitol xylosyltransferase 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 7:57,770,841...57,782,695
Ensembl chr 7:57,770,842...57,782,657 		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 7:57,329,532...57,594,681
Ensembl chr 7:57,329,532...57,596,196 		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 7:56,779,570...56,869,092
Ensembl chr 7:56,782,165...56,870,515 		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 7:57,077,830...57,110,868
Ensembl chr 7:57,077,830...57,110,892 		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 7:56,548,058...56,618,364
Ensembl chr 7:56,548,053...56,618,360 		JBrowse link
G Xpot exportin for tRNA ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 7:57,111,536...57,151,847
Ensembl chr 7:57,111,536...57,152,099 		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 chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127 		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 chr 8:114,085,524...114,093,388
Ensembl chr 8:114,084,831...114,094,286 		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 IEP protein:increased expression:intervertebral disk RGD PMID:23192728 RGD:10043113 NCBI chr11:25,000,627...25,047,205
Ensembl chr11:25,000,637...25,047,205 		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 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935 		JBrowse link
G Arsb arylsulfatase B susceptibility
treatment		 IAGP
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
DNA:mutation:cds:507InsC(rat)
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:1301949 PMID:1550123 PMID:1718978 PMID:4974081 PMID:7733883 More... RGD:631738, RGD:39131283, RGD:1599228, RGD:631738 NCBI chr 2:25,002,210...25,162,675
Ensembl chr 2:25,002,346...25,162,671 		JBrowse link
G ArsbMPR arylsulfatase B; MPR mutant IAGP RGD PMID:8575749 RGD:631738
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 chr12:26,701,191...26,714,718
Ensembl chr12:26,697,951...26,726,905 		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 2:25,281,771...25,428,128
Ensembl chr 2:25,281,901...25,427,950 		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 2:25,433,958...25,516,734
Ensembl chr 2:25,433,959...25,516,673 		JBrowse link
G Tnf tumor necrosis factor treatment IEP RGD PMID:21887218 RGD:39131283 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfsf11 TNF superfamily member 11 treatment IEP RGD PMID:21887218 RGD:39131283 NCBI chr15:53,674,990...53,705,171
Ensembl chr15:53,673,877...53,705,445 		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 | ClinVar Annotator: match by term: ARYLSULFATASE K DEFICIENCY OMIM
ClinVar		 PMID:34916232 NCBI chr 2:5,575,727...5,631,370
Ensembl chr 2:5,574,322...5,631,467 		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:28492532 PMID:31070736 NCBI chr12:33,024,596...33,051,399
Ensembl chr12:33,024,650...33,051,393 		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 chr14:1,031,588...1,059,494
Ensembl chr14:1,032,171...1,046,522 		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:7550242 PMID:7951228 PMID:8401515 More... NCBI chr14:1,040,565...1,045,851
Ensembl chr14:1,040,243...1,045,849 		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 chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662 		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 chr12:26,701,191...26,714,718
Ensembl chr12:26,697,951...26,726,905 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18246
    Nutritional and Metabolic Diseases 6810
      disease of metabolism 6810
        inherited metabolic disorder 4713
          carbohydrate metabolic disorder 2585
            mucopolysaccharidosis 107
              Mucopolysaccharidoses, Unclassified Types 0
              Mucopolysaccharidosis VIII 0
              Mucopolysaccharidosis X 1
              Mucopolysaccharidosis-Plus Syndrome 1
              Sly syndrome 2
              mucopolysaccharidosis I + 38
              mucopolysaccharidosis II 1
              mucopolysaccharidosis III + 22
              mucopolysaccharidosis IV + 32
              mucopolysaccharidosis IX 1
              mucopolysaccharidosis VI 10
Path 2
Term Annotations click to browse term
  disease 18246
    Developmental Disease 13102
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11857
        genetic disease 11365
          inherited metabolic disorder 4713
            lysosomal storage disease 818
              mucopolysaccharidosis 107
                Mucopolysaccharidoses, Unclassified Types 0
                Mucopolysaccharidosis VIII 0
                Mucopolysaccharidosis X 1
                Mucopolysaccharidosis-Plus Syndrome 1
                Sly syndrome 2
                mucopolysaccharidosis I + 38
                mucopolysaccharidosis II 1
                mucopolysaccharidosis III + 22
                mucopolysaccharidosis IV + 32
                mucopolysaccharidosis IX 1
                mucopolysaccharidosis VI 10
paths to the root