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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:Osteochondromatosis
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Accession:DOID:9005285 term browser browse the term
Definition:A condition marked by the presence of multiple osteochondromas. (Dorland, 27th ed)
Synonyms:exact_synonym: Osteochondromatoses
 primary_id: MESH:D018216
 alt_id: OMIA:001214

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show annotations for term's descendants           Sort by:
chondrodysplasia Blomstrand type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H LOC129936652 ATAC-STARR-seq lymphoblastoid silent region 14297 IAGP ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type ClinVar PMID:9745456 PMID:25741868 PMID:28492532
G N Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type ClinVar NCBI chrNW_004624730:74,405,054...74,408,567
Ensembl chrNW_004624730:74,404,915...74,408,752 		JBrowse link
G G MYL3 myosin light chain 3 ISO ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type ClinVar NCBI chr22:8,263,536...8,272,229
Ensembl chr22:8,261,206...8,269,185 		JBrowse link
G P MYL3 myosin light chain 3 ISO ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type ClinVar NCBI chr13:29,730,271...29,735,616
Ensembl chr13:29,707,371...29,735,586 		JBrowse link
G S Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type ClinVar NCBI chrNW_004936596:649,887...655,110
Ensembl chrNW_004936596:649,875...655,110 		JBrowse link
G D MYL3 myosin light chain 3 ISO ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type ClinVar NCBI chr20:41,941,617...41,947,085
Ensembl chr20:41,933,105...42,073,779 		JBrowse link
G B MYL3 myosin light chain 3 ISO ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type ClinVar NCBI chr 3:46,758,058...46,782,425
Ensembl chr 3:47,859,467...47,865,084 		JBrowse link
G C Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type ClinVar NCBI chrNW_004955420:25,308,513...25,311,959
Ensembl chrNW_004955420:25,305,759...25,312,271 		JBrowse link
G R Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type ClinVar NCBI chr 8:110,738,669...110,744,814
Ensembl chr 8:110,738,661...110,744,816 		JBrowse link
G M Myl3 myosin, light polypeptide 3 ISO ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type ClinVar NCBI chr 9:110,592,746...110,598,870
Ensembl chr 9:110,570,929...110,598,866 		JBrowse link
G H MYL3 myosin light chain 3 IAGP ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type ClinVar NCBI chr 3:46,857,872...46,882,182
Ensembl chr 3:46,835,111...46,882,178 		JBrowse link
G N Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Blomstrand lethal osteochondrodysplasia | ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type OMIM
ClinVar		 PMID:3975110 PMID:9268097 PMID:9536098 PMID:9649554 PMID:9745456 More... NCBI chrNW_004624730:74,371,614...74,392,344
Ensembl chrNW_004624730:74,371,294...74,390,262 		JBrowse link
G G PTH1R parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Blomstrand lethal osteochondrodysplasia | ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type OMIM
ClinVar		 PMID:3975110 PMID:9268097 PMID:9536098 PMID:9649554 PMID:9745456 More... NCBI chr22:8,287,877...8,309,736
Ensembl chr22:8,289,398...8,311,256 		JBrowse link
G P PTH1R parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Blomstrand lethal osteochondrodysplasia | ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type OMIM
ClinVar		 PMID:3975110 PMID:9268097 PMID:9536098 PMID:9649554 PMID:9745456 More... NCBI chr13:29,749,940...29,775,361
Ensembl chr13:29,753,326...29,775,348 		JBrowse link
G S Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Blomstrand lethal osteochondrodysplasia | ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type OMIM
ClinVar		 PMID:3975110 PMID:9268097 PMID:9536098 PMID:9649554 PMID:9745456 More... NCBI chrNW_004936596:674,088...693,191
Ensembl chrNW_004936596:674,088...693,213 		JBrowse link
G D PTH1R parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Blomstrand lethal osteochondrodysplasia | ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type OMIM
ClinVar		 PMID:3975110 PMID:9268097 PMID:9536098 PMID:9649554 PMID:9745456 More... NCBI chr20:41,905,265...41,924,712
Ensembl chr20:41,905,273...41,925,794 		JBrowse link
G B PTH1R parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Blomstrand lethal osteochondrodysplasia | ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type OMIM
ClinVar		 PMID:3975110 PMID:9268097 PMID:9536098 PMID:9649554 PMID:9745456 More... NCBI chr 3:46,777,945...46,804,039
Ensembl chr 3:47,894,901...47,905,431 		JBrowse link
G C Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Blomstrand lethal osteochondrodysplasia | ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type OMIM
ClinVar		 PMID:3975110 PMID:9268097 PMID:9536098 PMID:9649554 PMID:9745456 More... NCBI chrNW_004955420:25,274,269...25,291,984
Ensembl chrNW_004955420:25,273,431...25,296,471 		JBrowse link
G R Pth1r parathyroid hormone 1 receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Blomstrand lethal osteochondrodysplasia | ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type		 OMIM
CTD
ClinVar		 PMID:3975110 PMID:9268097 PMID:9536098 PMID:9649554 PMID:9745456 More... NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729 		JBrowse link
G M Pth1r parathyroid hormone 1 receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Blomstrand lethal osteochondrodysplasia | ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type		 OMIM
CTD
ClinVar		 PMID:3975110 PMID:9268097 PMID:9536098 PMID:9649554 PMID:9745456 More... NCBI chr 9:110,551,132...110,576,213
Ensembl chr 9:110,551,153...110,576,213 		JBrowse link
G H PTH1R parathyroid hormone 1 receptor IAGP
EXP		 ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type
ClinVar Annotator: match by term: Blomstrand lethal osteochondrodysplasia | ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:3975110 PMID:9268097 PMID:9536098 PMID:9649554 PMID:9745456 More... NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
hereditary multiple exostoses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G AARD alanine and arginine rich domain containing protein ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:111,574,689...111,580,903
Ensembl chr 8:111,575,266...111,580,871 		JBrowse link
G P AARD alanine and arginine rich domain containing protein ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 4:21,715,688...21,720,760
Ensembl chr 4:21,715,819...21,720,764 		JBrowse link
G S Aard alanine and arginine rich domain containing protein ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004936470:29,320,937...29,325,193
Ensembl chrNW_004936470:29,321,105...29,325,192 		JBrowse link
G B AARD alanine and arginine rich domain containing protein ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:113,610,223...113,619,903 JBrowse link
G R Aard alanine and arginine rich domain containing protein ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 7:83,364,478...83,369,319
Ensembl chr 7:83,364,204...83,369,317 		JBrowse link
G M Aard alanine and arginine rich domain containing protein ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr15:51,903,503...51,909,118
Ensembl chr15:51,903,503...51,909,118 		JBrowse link
G H AARD alanine and arginine rich domain containing protein IAGP ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:116,938,207...116,944,487
Ensembl chr 8:116,938,207...116,944,487 		JBrowse link
G N Ccn3 cellular communication network factor 3 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004624763:17,573,693...17,580,884
Ensembl chrNW_004624763:17,573,718...17,580,925 		JBrowse link
G G CCN3 cellular communication network factor 3 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:113,989,862...113,998,187
Ensembl chr 8:113,990,152...113,998,261 		JBrowse link
G P CCN3 cellular communication network factor 3 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 4:19,505,698...19,514,481
Ensembl chr 4:19,505,701...19,514,406 		JBrowse link
G S Ccn3 cellular communication network factor 3 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004936470:27,178,439...27,185,554
Ensembl chrNW_004936470:27,178,621...27,185,564 		JBrowse link
G D CCN3 cellular communication network factor 3 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr13:18,507,586...18,515,755
Ensembl chr13:18,507,580...18,514,619 		JBrowse link
G B CCN3 cellular communication network factor 3 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:116,105,935...116,114,241
Ensembl chr 8:118,855,445...118,865,039 		JBrowse link
G C Ccn3 cellular communication network factor 3 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004955417:25,218,613...25,225,755 JBrowse link
G R Ccn3 cellular communication network factor 3 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 7:86,094,000...86,101,022
Ensembl chr 7:86,094,000...86,101,019 		JBrowse link
G M Ccn3 cellular communication network factor 3 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr15:54,609,306...54,617,158
Ensembl chr15:54,609,098...54,617,435 		JBrowse link
G H CCN3 cellular communication network factor 3 IAGP ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:119,416,446...119,424,434
Ensembl chr 8:119,416,446...119,424,434 		JBrowse link
G N Colec10 collectin subfamily member 10 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004624763:17,302,075...17,350,682
Ensembl chrNW_004624763:17,301,993...17,352,559 		JBrowse link
G G COLEC10 collectin subfamily member 10 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:113,663,768...113,704,070
Ensembl chr 8:113,664,263...113,702,720 		JBrowse link
G P COLEC10 collectin subfamily member 10 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 4:19,692,990...20,143,740
Ensembl chr 4:19,692,830...19,744,135 		JBrowse link
G S Colec10 collectin subfamily member 10 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004936470:27,416,471...27,449,206
Ensembl chrNW_004936470:27,416,494...27,449,206 		JBrowse link
G D COLEC10 collectin subfamily member 10 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr13:18,291,168...18,331,918
Ensembl chr13:18,291,051...18,330,617 		JBrowse link
G B COLEC10 collectin subfamily member 10 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:115,758,592...115,798,548
Ensembl chr 8:118,277,484...118,317,271 		JBrowse link
G C Colec10 collectin subfamily member 10 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004955417:24,954,969...24,994,188
Ensembl chrNW_004955417:24,954,938...24,994,188 		JBrowse link
G R Colec10 collectin subfamily member 10 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 7:85,744,895...85,806,368
Ensembl chr 7:85,744,895...85,805,675 		JBrowse link
G M Colec10 collectin sub-family member 10 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr15:54,274,170...54,329,755
Ensembl chr15:54,274,170...54,329,754 		JBrowse link
G H COLEC10 collectin subfamily member 10 IAGP ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:118,952,263...119,108,455
Ensembl chr 8:118,995,452...119,108,455 		JBrowse link
G N Eif3h eukaryotic translation initiation factor 3 subunit H ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004624763:14,938,624...15,027,001
Ensembl chrNW_004624763:14,935,271...15,027,010 		JBrowse link
G G EIF3H eukaryotic translation initiation factor 3 subunit H ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:111,283,184...111,390,835 JBrowse link
G P EIF3H eukaryotic translation initiation factor 3 subunit H ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 4:21,955,026...22,053,683
Ensembl chr 4:21,954,874...22,058,699 		JBrowse link
G S Eif3h eukaryotic translation initiation factor 3 subunit H ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004936470:29,509,154...29,606,124
Ensembl chrNW_004936470:29,509,151...29,606,124 		JBrowse link
G D EIF3H eukaryotic translation initiation factor 3 subunit H ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr13:16,105,960...16,201,902
Ensembl chr13:16,105,990...16,341,153 		JBrowse link
G B EIF3H eukaryotic translation initiation factor 3 subunit H ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:113,320,059...113,440,769
Ensembl chr 8:115,863,490...115,973,872 		JBrowse link
G C Eif3h eukaryotic translation initiation factor 3 subunit H ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004955417:22,757,781...22,846,349
Ensembl chrNW_004955417:22,754,395...22,846,618 		JBrowse link
G R Eif3h eukaryotic translation initiation factor 3, subunit H ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 7:83,091,037...83,174,451
Ensembl chr 7:83,091,039...83,174,451 		JBrowse link
G M Eif3h eukaryotic translation initiation factor 3, subunit H ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr15:51,649,956...51,728,901
Ensembl chr15:51,649,954...51,728,919 		JBrowse link
G H EIF3H eukaryotic translation initiation factor 3 subunit H IAGP ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:116,642,130...116,766,374
Ensembl chr 8:116,642,130...116,766,925 		JBrowse link
G N Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004624763:17,677,825...17,775,284
Ensembl chrNW_004624763:17,677,722...17,765,292 		JBrowse link
G G ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:114,113,780...114,232,656
Ensembl chr 8:114,113,778...114,195,956 		JBrowse link
G P ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 4:19,319,815...19,433,492
Ensembl chr 4:19,319,810...19,433,488 		JBrowse link
G S Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004936470:26,994,549...27,099,758
Ensembl chrNW_004936470:26,994,215...27,100,999 		JBrowse link
G D ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr13:18,586,886...18,697,339
Ensembl chr13:18,587,129...18,697,324 		JBrowse link
G B ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:116,248,587...116,364,966
Ensembl chr 8:118,998,530...119,114,273 		JBrowse link
G C Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004955417:25,308,424...25,384,307
Ensembl chrNW_004955417:25,308,361...25,384,443 		JBrowse link
G R Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 7:86,202,345...86,325,050
Ensembl chr 7:86,202,350...86,324,827 		JBrowse link
G M Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr15:54,702,297...54,816,284
Ensembl chr15:54,702,297...54,816,288 		JBrowse link
G H ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 IAGP ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:119,557,086...119,673,390
Ensembl chr 8:119,557,086...119,673,453 		JBrowse link
G N Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Hereditary Multiple Osteochondromatosis | ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:1816274 PMID:7550340 PMID:8981950 PMID:9150727 PMID:9326317 More... NCBI chrNW_004624763:16,126,582...16,393,476
Ensembl chrNW_004624763:16,126,938...16,392,804 		JBrowse link
G G EXT1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Hereditary Multiple Osteochondromatosis | ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:1816274 PMID:7550340 PMID:8981950 PMID:9150727 PMID:9326317 More... NCBI chr 8:112,435,733...112,751,301 JBrowse link
G P EXT1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Hereditary Multiple Osteochondromatosis | ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:1816274 PMID:7550340 PMID:8981950 PMID:9150727 PMID:9326317 More... NCBI chr 4:20,645,002...20,935,769
Ensembl chr 4:20,645,610...20,935,540 		JBrowse link
G S Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Hereditary Multiple Osteochondromatosis | ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:1816274 PMID:7550340 PMID:8981950 PMID:9150727 PMID:9326317 More... NCBI chrNW_004936470:28,303,213...28,566,470
Ensembl chrNW_004936470:28,303,828...28,566,118 		JBrowse link
G D EXT1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Hereditary Multiple Osteochondromatosis | ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:1816274 PMID:7550340 PMID:8981950 PMID:9150727 PMID:9326317 More... NCBI chr13:17,172,497...17,457,084
Ensembl chr13:17,172,705...17,456,469 		JBrowse link
G B EXT1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Hereditary Multiple Osteochondromatosis | ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:1816274 PMID:7550340 PMID:8981950 PMID:9150727 PMID:9326317 More... NCBI chr 8:114,489,325...114,803,763
Ensembl chr 8:117,011,919...117,324,851 		JBrowse link
G C Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Hereditary Multiple Osteochondromatosis | ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:1816274 PMID:7550340 PMID:8981950 PMID:9150727 PMID:9326317 More... NCBI chrNW_004955417:23,798,044...24,067,759
Ensembl chrNW_004955417:23,798,393...24,067,100 		JBrowse link
G R Ext1 exostosin glycosyltransferase 1 ISO
ISS		 DNA:frameshift mutations, missense mutation:cds:multiple (human)
ClinVar Annotator: match by term: Hereditary Multiple Osteochondromatosis | ClinVar Annotator: match by term: Multiple congenital exostosis
OMIM:133700 | OMIM:133701 | OMIM:600209
DNA:missense mutation:cds:p.Y271H (human)
DNA:frameshift mutation:cds:p.S442IfsX1 (human)
DNA:frameshift mutation:cds:p.K218fsX247 (human)
DNA:nonsense mutation:cds:p.Y634X (human)
DNA:missense mutation, frameshift mutation:cds:p.R340L, p.K177KfsX15 (human)
DNA:deletion:cds:p.V545_E574del (human)
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:1816274 PMID:7550340 PMID:8981950 PMID:9150727 PMID:9326317 More... RGD:1598916, RGD:13208236, RGD:13208236, RGD:13208234, RGD:13208233, RGD:13208229, RGD:13208228, RGD:13208227 NCBI chr 7:84,375,769...84,654,625
Ensembl chr 7:84,375,784...84,655,357 		JBrowse link
G M Ext1 exostosin glycosyltransferase 1 ISO
IAGP
IMP		 DNA:frameshift mutations, missense mutation:cds:multiple (human)
ClinVar Annotator: match by term: Hereditary Multiple Osteochondromatosis | ClinVar Annotator: match by term: Multiple congenital exostosis
OMIM:133700 | OMIM:133701 | OMIM:600209
DNA:missense mutation:cds:p.Y271H (human)
DNA:frameshift mutation:cds:p.S442IfsX1 (human)
DNA:frameshift mutation:cds:p.K218fsX247 (human)
DNA:nonsense mutation:cds:p.Y634X (human)
DNA:missense mutation, frameshift mutation:cds:p.R340L, p.K177KfsX15 (human)
DNA:deletion:cds:p.V545_E574del (human)
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:1816274 PMID:7550340 PMID:8981950 PMID:9150727 PMID:9326317 More... RGD:1598916, RGD:13208236, RGD:13208236, RGD:13208234, RGD:13208233, RGD:13208229, RGD:13208228, RGD:13208227 NCBI chr15:52,931,657...53,209,579
Ensembl chr15:52,927,434...53,209,555 		JBrowse link
G H EXT1 exostosin glycosyltransferase 1 IAGP
ISS
EXP
ISO		 DNA:frameshift mutations, missense mutation:cds:multiple (human)
ClinVar Annotator: match by term: Multiple congenital exostosis
ClinVar Annotator: match by term: Hereditary Multiple Osteochondromatosis | ClinVar Annotator: match by term: Multiple congenital exostosis
OMIM:133700 | OMIM:133701 | OMIM:600209
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.Y271H (human)
DNA:frameshift mutation:cds:p.S442IfsX1 (human)
DNA:frameshift mutation:cds:p.K218fsX247 (human)
DNA:nonsense mutation:cds:p.Y634X (human)
DNA:missense mutation, frameshift mutation:cds:p.R340L, p.K177KfsX15 (human)
DNA:deletion:cds:p.V545_E574del (human)		 ClinVar
MouseDO
CTD
RGD		 PMID:1816274 PMID:7550340 PMID:8981950 PMID:9150727 PMID:9326317 More... RGD:1598916, RGD:13208236, RGD:13208236, RGD:13208234, RGD:13208233, RGD:13208229, RGD:13208228, RGD:13208227 NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826 		JBrowse link
G G EXT2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis | ClinVar Annotator: match by term: Multiple osteochondromas ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 1:21,077,159...21,282,317
Ensembl chr 1:21,119,987...21,281,635 		JBrowse link
G P EXT2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis | ClinVar Annotator: match by term: Multiple osteochondromas ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 2:18,099,790...18,239,229
Ensembl chr 2:18,209,102...18,232,025 		JBrowse link
G S Ext2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis | ClinVar Annotator: match by term: Multiple osteochondromas ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chrNW_004936562:4,345,146...4,489,180
Ensembl chrNW_004936562:4,342,874...4,489,180 		JBrowse link
G D EXT2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis | ClinVar Annotator: match by term: Multiple osteochondromas ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr18:44,987,310...45,122,339
Ensembl chr18:44,987,748...45,129,974 		JBrowse link
G B EXT2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis | ClinVar Annotator: match by term: Multiple osteochondromas ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr11:44,055,670...44,204,055
Ensembl chr11:44,522,797...44,699,447 		JBrowse link
G C Ext2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis | ClinVar Annotator: match by term: Multiple osteochondromas ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chrNW_004955422:3,303,948...3,438,381
Ensembl chrNW_004955422:3,304,842...3,447,908 		JBrowse link
G R Ext2 exostosin glycosyltransferase 2 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:133700 | OMIM:133701 | OMIM:600209
ClinVar Annotator: match by term: Multiple congenital exostosis | ClinVar Annotator: match by term: Multiple osteochondromas		 CTD
MouseDO
ClinVar		 PMID:9536098 PMID:17576681 PMID:23439489 PMID:25741868 PMID:28492532 NCBI chr 3:79,665,414...79,798,077
Ensembl chr 3:79,665,415...79,798,059 		JBrowse link
G M Ext2 exostosin glycosyltransferase 2 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multiple congenital exostosis | ClinVar Annotator: match by term: Multiple osteochondromas
OMIM:133700 | OMIM:133701 | OMIM:600209		 CTD
ClinVar
MouseDO		 PMID:9536098 PMID:17576681 PMID:23439489 PMID:25741868 PMID:28492532 NCBI chr 2:93,525,978...93,652,913
Ensembl chr 2:93,491,373...93,652,913 		JBrowse link
G H EXT2 exostosin glycosyltransferase 2 EXP
IAGP
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multiple congenital exostosis
OMIM:133700 | OMIM:133701 | OMIM:600209
ClinVar Annotator: match by term: Multiple osteochondromas		 CTD
ClinVar
MouseDO		 PMID:9536098 PMID:17576681 PMID:23439489 PMID:25741868 PMID:28492532 NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962 		JBrowse link
G H LOC124188206 Sharpr-MPRA regulatory region 14285 IAGP ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 NCBI chr 8:117,831,570...117,831,864 JBrowse link
G H LOC130001002 ATAC-STARR-seq lymphoblastoid silent region 19478 IAGP ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar NCBI chr 8:118,111,679...118,111,768 JBrowse link
G N Mal2 mal, T cell differentiation protein 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004624763:17,421,000...17,446,653
Ensembl chrNW_004624763:17,420,939...17,447,162 		JBrowse link
G G MAL2 mal, T cell differentiation protein 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:113,800,325...113,830,578
Ensembl chr 8:113,800,358...113,832,534 		JBrowse link
G P MAL2 mal, T cell differentiation protein 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 4:19,593,536...19,658,695
Ensembl chr 4:19,593,536...19,617,671 		JBrowse link
G S Mal2 mal, T cell differentiation protein 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004936470:27,315,356...27,390,078
Ensembl chrNW_004936470:27,315,287...27,340,799 		JBrowse link
G D MAL2 mal, T cell differentiation protein 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr13:18,404,979...18,422,076
Ensembl chr13:18,406,633...18,420,469 		JBrowse link
G B MAL2 mal, T cell differentiation protein 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:115,894,617...115,935,359
Ensembl chr 8:118,413,391...118,452,972 		JBrowse link
G C Mal2 mal, T cell differentiation protein 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004955417:25,069,847...25,096,132 JBrowse link
G R Mal2 mal, T-cell differentiation protein 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 7:85,900,453...85,933,433
Ensembl chr 7:85,900,453...85,933,429 		JBrowse link
G M Mal2 mal, T cell differentiation protein 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr15:54,434,762...54,466,242
Ensembl chr15:54,434,588...54,466,243 		JBrowse link
G H MAL2 mal, T cell differentiation protein 2 IAGP ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:119,208,363...119,245,673
Ensembl chr 8:119,165,034...119,245,673 		JBrowse link
G N Med30 mediator complex subunit 30 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004624763:15,831,359...15,847,761
Ensembl chrNW_004624763:15,831,456...15,848,636 		JBrowse link
G G MED30 mediator complex subunit 30 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:112,162,112...112,181,630
Ensembl chr 8:112,162,149...112,181,585 		JBrowse link
G P MED30 mediator complex subunit 30 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 4:21,198,740...21,215,634
Ensembl chr 4:21,198,743...21,215,618 		JBrowse link
G S Med30 mediator complex subunit 30 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004936470:28,798,356...28,822,143
Ensembl chrNW_004936470:28,798,649...28,817,176 		JBrowse link
G D MED30 mediator complex subunit 30 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr13:16,928,166...16,949,503
Ensembl chr13:16,928,161...16,949,295 		JBrowse link
G B MED30 mediator complex subunit 30 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:114,211,278...114,230,838
Ensembl chr 8:116,732,283...116,752,249 		JBrowse link
G C Med30 mediator complex subunit 30 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004955417:23,538,984...23,557,837
Ensembl chrNW_004955417:23,538,809...23,559,611 		JBrowse link
G R Med30 mediator complex subunit 30 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 7:84,004,735...84,026,474
Ensembl chr 7:84,004,722...84,026,595 		JBrowse link
G M Med30 mediator complex subunit 30 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr15:52,575,841...52,593,827
Ensembl chr15:52,575,804...52,593,960 		JBrowse link
G H MED30 mediator complex subunit 30 IAGP ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:117,520,713...117,540,262
Ensembl chr 8:117,520,713...117,540,262 		JBrowse link
G N Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21533187 NCBI chrNW_004624747:19,721,581...19,813,639
Ensembl chrNW_004624747:19,721,468...19,813,670 		JBrowse link
G G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21533187 NCBI chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637 		JBrowse link
G P PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21533187 NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003 		JBrowse link
G S Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21533187 NCBI chrNW_004936668:2,602,261...2,687,903
Ensembl chrNW_004936668:2,628,706...2,682,448 		JBrowse link
G D PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21533187 NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481 		JBrowse link
G B PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21533187 NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762 		JBrowse link
G C Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21533187 NCBI chrNW_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203 		JBrowse link
G R Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21533187 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G M Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21533187 NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460 		JBrowse link
G H PTPN11 protein tyrosine phosphatase non-receptor type 11 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21533187 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G N Rad21 RAD21 cohesin complex component ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004624763:15,131,106...15,157,512
Ensembl chrNW_004624763:15,131,005...15,158,155 		JBrowse link
G G RAD21 RAD21 cohesin complex component ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:111,486,356...111,515,641
Ensembl chr 8:111,486,048...111,507,729 		JBrowse link
G P RAD21 RAD21 cohesin complex component ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 4:21,772,821...21,802,453
Ensembl chr 4:21,772,855...21,802,715 		JBrowse link
G S Rad21 RAD21 cohesin complex component ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004936470:29,377,793...29,403,422
Ensembl chrNW_004936470:29,377,734...29,407,312 		JBrowse link
G D RAD21 RAD21 cohesin complex component ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr13:16,337,563...16,368,041
Ensembl chr13:16,338,972...16,368,035 		JBrowse link
G B RAD21 RAD21 cohesin complex component ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:113,520,456...113,549,339
Ensembl chr 8:116,063,503...116,092,421 		JBrowse link
G C Rad21 RAD21 cohesin complex component ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004955417:22,941,549...22,966,395
Ensembl chrNW_004955417:22,941,479...22,966,837 		JBrowse link
G R Rad21 RAD21 cohesin complex component ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 7:83,287,867...83,314,810
Ensembl chr 7:83,287,870...83,314,817 		JBrowse link
G M Rad21 RAD21 cohesin complex component ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr15:51,826,000...51,856,934
Ensembl chr15:51,825,636...51,855,143 		JBrowse link
G H RAD21 RAD21 cohesin complex component IAGP ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776 		JBrowse link
G N Samd12 sterile alpha motif domain containing 12 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004624763:16,475,162...16,867,444
Ensembl chrNW_004624763:16,477,471...16,867,493 		JBrowse link
G G SAMD12 sterile alpha motif domain containing 12 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:112,834,159...113,246,812
Ensembl chr 8:112,877,688...113,246,824 		JBrowse link
G P SAMD12 sterile alpha motif domain containing 12 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 4:20,143,614...20,570,780
Ensembl chr 4:20,143,883...20,570,768 		JBrowse link
G S Samd12 sterile alpha motif domain containing 12 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004936470:27,858,661...28,230,543
Ensembl chrNW_004936470:27,858,427...28,228,114 		JBrowse link
G D SAMD12 sterile alpha motif domain containing 12 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr13:17,525,855...17,897,153
Ensembl chr13:17,528,421...17,897,009 		JBrowse link
G B SAMD12 sterile alpha motif domain containing 12 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:114,823,792...115,312,738 JBrowse link
G C Samd12 sterile alpha motif domain containing 12 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004955417:24,137,340...24,541,572
Ensembl chrNW_004955417:24,145,264...24,541,599 		JBrowse link
G R Samd12 sterile alpha motif domain containing 12 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 7:84,768,850...85,064,057
Ensembl chr 7:84,768,254...85,271,766 		JBrowse link
G M Samd12 sterile alpha motif domain containing 12 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr15:53,262,514...53,765,926
Ensembl chr15:53,317,206...53,765,933 		JBrowse link
G H SAMD12 sterile alpha motif domain containing 12 IAGP ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:118,131,825...118,621,963
Ensembl chr 8:118,189,455...118,622,112 		JBrowse link
G N Slc30a8 solute carrier family 30 member 8 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004624763:15,393,221...15,469,819
Ensembl chrNW_004624763:15,431,806...15,461,833 		JBrowse link
G G SLC30A8 solute carrier family 30 member 8 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:111,588,517...111,819,908
Ensembl chr 8:111,769,181...111,815,885 		JBrowse link
G P SLC30A8 solute carrier family 30 member 8 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 4:21,517,009...21,557,747
Ensembl chr 4:21,517,486...21,555,746 		JBrowse link
G S Slc30a8 solute carrier family 30 member 8 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004936470:29,114,713...29,151,993
Ensembl chrNW_004936470:29,114,713...29,151,993 		JBrowse link
G D SLC30A8 solute carrier family 30 member 8 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr13:16,602,255...16,637,299
Ensembl chr13:16,601,912...16,635,880 		JBrowse link
G B SLC30A8 solute carrier family 30 member 8 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:113,624,785...113,851,633
Ensembl chr 8:116,223,595...116,394,095 		JBrowse link
G C Slc30a8 solute carrier family 30 member 8 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004955417:23,207,146...23,239,170
Ensembl chrNW_004955417:23,207,146...23,236,874 		JBrowse link
G R Slc30a8 solute carrier family 30 member 8 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 7:83,591,993...83,627,786
Ensembl chr 7:83,591,993...83,626,305 		JBrowse link
G M Slc30a8 solute carrier family 30 (zinc transporter), member 8 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr15:52,158,949...52,199,194
Ensembl chr15:52,158,949...52,199,194 		JBrowse link
G H SLC30A8 solute carrier family 30 member 8 IAGP ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:116,950,217...117,176,714
Ensembl chr 8:116,950,273...117,176,714 		JBrowse link
G N Taf2 TATA-box binding protein associated factor 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004624763:17,801,835...17,907,538
Ensembl chrNW_004624763:17,806,280...17,907,547 		JBrowse link
G G TAF2 TATA-box binding protein associated factor 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:114,291,325...114,395,189
Ensembl chr 8:114,290,866...114,395,537 		JBrowse link
G P TAF2 TATA-box binding protein associated factor 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 4:19,180,215...19,267,416
Ensembl chr 4:19,180,320...19,267,071 		JBrowse link
G S Taf2 TATA-box binding protein associated factor 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004936470:26,871,865...26,951,804
Ensembl chrNW_004936470:26,871,847...26,951,806 		JBrowse link
G D TAF2 TATA-box binding protein associated factor 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr13:18,724,408...18,824,025
Ensembl chr13:18,729,234...18,823,979 		JBrowse link
G B TAF2 TATA-box binding protein associated factor 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:116,421,520...116,523,138
Ensembl chr 8:119,170,327...119,271,405 		JBrowse link
G C Taf2 TATA-box binding protein associated factor 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004955417:25,457,615...25,515,923 JBrowse link
G R Taf2 TATA-box binding protein associated factor 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 7:86,422,613...86,479,616
Ensembl chr 7:86,422,613...86,479,616 		JBrowse link
G M Taf2 TATA-box binding protein associated factor 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr15:54,878,525...54,935,580
Ensembl chr15:54,878,527...54,935,548 		JBrowse link
G H TAF2 TATA-box binding protein associated factor 2 IAGP ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:119,730,774...119,832,841
Ensembl chr 8:119,730,774...119,832,863 		JBrowse link
G N Tnfrsf11b TNF receptor superfamily member 11b ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004624763:17,139,109...17,166,398
Ensembl chrNW_004624763:17,138,847...17,166,453 		JBrowse link
G G TNFRSF11B TNF receptor superfamily member 11b ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:113,520,711...113,549,370
Ensembl chr 8:113,520,596...113,548,936 		JBrowse link
G P TNFRSF11B TNF receptor superfamily member 11b ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 4:19,850,212...19,879,132
Ensembl chr 4:19,850,350...19,879,125 		JBrowse link
G S Tnfrsf11b TNF receptor superfamily member 11b ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004936470:27,571,263...27,598,725
Ensembl chrNW_004936470:27,571,270...27,599,089 		JBrowse link
G D TNFRSF11B TNF receptor superfamily member 11b ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr13:18,155,765...18,183,263
Ensembl chr13:18,156,367...18,183,444 		JBrowse link
G B TNFRSF11B TNF receptor superfamily member 11b ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:115,614,778...115,643,387
Ensembl chr 8:118,134,305...118,162,422 		JBrowse link
G C Tnfrsf11b TNF receptor superfamily member 11b ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004955417:24,804,708...24,831,338
Ensembl chrNW_004955417:24,804,664...24,831,894 		JBrowse link
G R Tnfrsf11b TNF receptor superfamily member 11B ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538 		JBrowse link
G M Tnfrsf11b tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin) ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr15:54,114,014...54,141,700
Ensembl chr15:54,114,015...54,141,880 		JBrowse link
G H TNFRSF11B TNF receptor superfamily member 11b IAGP ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885 		JBrowse link
G N Utp23 UTP23 small subunit processome component ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004624763:15,040,367...15,044,532
Ensembl chrNW_004624763:15,040,390...15,044,532 		JBrowse link
G G UTP23 UTP23 small subunit processome component ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:111,404,636...111,410,083
Ensembl chr 8:111,404,634...111,413,673 		JBrowse link
G P UTP23 UTP23 small subunit processome component ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 4:21,934,796...21,940,994
Ensembl chr 4:21,934,434...21,940,952 		JBrowse link
G S Utp23 UTP23 small subunit processome component ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004936470:29,489,354...29,495,171
Ensembl chrNW_004936470:29,486,977...29,495,222 		JBrowse link
G D UTP23 UTP23 small subunit processome component ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr13:16,213,131...16,219,726
Ensembl chr13:16,213,159...16,339,964 		JBrowse link
G B UTP23 UTP23 small subunit processome component ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:113,441,014...113,462,103
Ensembl chr 8:115,984,167...116,066,606 		JBrowse link
G C Utp23 UTP23 small subunit processome component ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004955417:22,859,914...22,867,633 JBrowse link
G R Utp23 UTP23, small subunit processome component ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 7:83,185,187...83,196,652
Ensembl chr 7:83,189,656...83,196,655 		JBrowse link
G M Utp23 UTP23 small subunit processome component ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr15:51,740,837...51,748,018
Ensembl chr15:51,740,825...51,748,010 		JBrowse link
G H UTP23 UTP23 small subunit processome component IAGP ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:116,766,524...116,774,684
Ensembl chr 8:116,766,505...116,849,463 		JBrowse link
Kniest Like Dysplasia Lethal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 More... NCBI chrNW_004624764:6,639,152...6,736,161
Ensembl chrNW_004624764:6,640,087...6,708,130 		JBrowse link
G G HSPG2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 More... NCBI chr20:110,693,858...110,809,467
Ensembl chr20:110,693,854...110,809,466 		JBrowse link
G P HSPG2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 More... NCBI chr 6:79,849,691...79,958,283
Ensembl chr 6:79,849,698...79,958,334 		JBrowse link
G S Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 More... NCBI chrNW_004936474:7,407,622...7,478,950
Ensembl chrNW_004936474:7,408,518...7,467,851 		JBrowse link
G D HSPG2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 More... NCBI chr 2:77,263,534...77,366,558
Ensembl chr 2:77,301,858...77,367,724 		JBrowse link
G B HSPG2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 More... NCBI chr 1:21,014,951...21,129,937
Ensembl chr 1:21,979,504...22,053,400 		JBrowse link
G C Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 More... NCBI chrNW_004955452:2,056,428...2,141,937
Ensembl chrNW_004955452:2,057,326...2,120,280 		JBrowse link
G R Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 More... NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594 		JBrowse link
G M Hspg2 perlecan (heparan sulfate proteoglycan 2) ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 More... NCBI chr 4:137,196,062...137,297,941
Ensembl chr 4:137,196,080...137,297,941 		JBrowse link
G H HSPG2 heparan sulfate proteoglycan 2 IAGP ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 More... NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G N Ldlrad2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004624764:6,631,231...6,639,010 JBrowse link
G G LDLRAD2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr20:110,809,660...110,817,967 JBrowse link
G P LDLRAD2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:79,837,734...79,850,311
Ensembl chr 6:79,838,616...79,849,661 		JBrowse link
G S Ldlrad2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936474:7,375,439...7,407,318 JBrowse link
G D LDLRAD2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:77,368,930...77,377,385
Ensembl chr 2:77,368,634...77,377,126 		JBrowse link
G B LDLRAD2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:21,005,437...21,014,421
Ensembl chr 1:21,969,991...21,980,470 		JBrowse link
G C Ldlrad2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955452:2,031,868...2,057,264 JBrowse link
G R Ldlrad2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:149,778,795...149,788,335
Ensembl chr 5:149,779,675...149,787,140 		JBrowse link
G M Ldlrad2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 4:137,298,185...137,309,429
Ensembl chr 4:137,298,187...137,309,415 		JBrowse link
G H LDLRAD2 low density lipoprotein receptor class A domain containing 2 IAGP ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:21,812,265...21,825,225
Ensembl chr 1:21,812,265...21,825,225 		JBrowse link
G H LOC126805655 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:22178409-22179608 IAGP ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:21,851,916...21,853,115 JBrowse link
metachondromatosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Metachondromatosis OMIM
ClinVar		 PMID:4746100 PMID:9491886 PMID:9536098 PMID:9751050 PMID:11704759 More... NCBI chrNW_004624747:19,721,581...19,813,639
Ensembl chrNW_004624747:19,721,468...19,813,670 		JBrowse link
G G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Metachondromatosis OMIM
ClinVar		 PMID:4746100 PMID:9491886 PMID:9536098 PMID:9751050 PMID:11704759 More... NCBI chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637 		JBrowse link
G P PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Metachondromatosis OMIM
ClinVar		 PMID:4746100 PMID:9491886 PMID:9536098 PMID:9751050 PMID:11704759 More... NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003 		JBrowse link
G S Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Metachondromatosis OMIM
ClinVar		 PMID:4746100 PMID:9491886 PMID:9536098 PMID:9751050 PMID:11704759 More... NCBI chrNW_004936668:2,602,261...2,687,903
Ensembl chrNW_004936668:2,628,706...2,682,448 		JBrowse link
G D PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Metachondromatosis OMIM
ClinVar		 PMID:4746100 PMID:9491886 PMID:9536098 PMID:9751050 PMID:11704759 More... NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481 		JBrowse link
G B PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Metachondromatosis OMIM
ClinVar		 PMID:4746100 PMID:9491886 PMID:9536098 PMID:9751050 PMID:11704759 More... NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762 		JBrowse link
G C Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Metachondromatosis OMIM
ClinVar		 PMID:4746100 PMID:9491886 PMID:9536098 PMID:9751050 PMID:11704759 More... NCBI chrNW_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203 		JBrowse link
G R Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Metachondromatosis
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4746100 PMID:9491886 PMID:9536098 PMID:9751050 PMID:11704759 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G M Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Metachondromatosis
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4746100 PMID:9491886 PMID:9536098 PMID:9751050 PMID:11704759 More... NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460 		JBrowse link
G H PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP
EXP		 ClinVar Annotator: match by term: Metachondromatosis
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:4746100 PMID:9491886 PMID:9536098 PMID:9751050 PMID:11704759 More... NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G N Rpl6 ribosomal protein L6 ISO ClinVar Annotator: match by term: Metachondromatosis ClinVar NCBI chrNW_004624747:19,821,875...19,826,605
Ensembl chrNW_004624747:19,822,791...19,827,045 		JBrowse link
G G RPL6 ribosomal protein L6 ISO ClinVar Annotator: match by term: Metachondromatosis ClinVar NCBI chr11:107,650,603...107,652,130 JBrowse link
G P RPL6 ribosomal protein L6 ISO ClinVar Annotator: match by term: Metachondromatosis ClinVar NCBI chr14:39,302,447...39,309,239
Ensembl chr14:39,303,350...39,309,236 		JBrowse link
G S Rpl6 ribosomal protein L6 ISO ClinVar Annotator: match by term: Metachondromatosis ClinVar NCBI chrNW_004936668:2,584,829...2,588,236
Ensembl chrNW_004936668:2,583,958...2,587,397 		JBrowse link
G D RPL6 ribosomal protein L6 ISO ClinVar Annotator: match by term: Metachondromatosis ClinVar NCBI chr26:9,970,416...9,975,897 JBrowse link
G B RPL6 ribosomal protein L6 ISO ClinVar Annotator: match by term: Metachondromatosis ClinVar NCBI chr12:110,002,667...110,008,899
Ensembl chr12:113,398,795...113,403,186 		JBrowse link
G C Rpl6 ribosomal protein L6 ISO ClinVar Annotator: match by term: Metachondromatosis ClinVar NCBI chrNW_004955482:8,917,777...8,923,150 JBrowse link
G R Rpl6 ribosomal protein L6 ISO ClinVar Annotator: match by term: Metachondromatosis ClinVar NCBI chr12:35,347,493...35,352,011
Ensembl chr12:35,347,497...35,351,921 		JBrowse link
G M Rpl6 ribosomal protein L6 ISO ClinVar Annotator: match by term: Metachondromatosis ClinVar NCBI chr 5:121,342,564...121,347,304
Ensembl chr 5:121,342,544...121,347,304 		JBrowse link
G H RPL6 ribosomal protein L6 IAGP ClinVar Annotator: match by term: Metachondromatosis ClinVar NCBI chr12:112,405,181...112,418,835
Ensembl chr12:112,405,189...112,418,838 		JBrowse link
Multiple Exostoses Type I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I OMIM
ClinVar		 PMID:7550340 PMID:8981950 PMID:9326317 PMID:9463333 PMID:9521425 More... NCBI chrNW_004624763:16,126,582...16,393,476
Ensembl chrNW_004624763:16,126,938...16,392,804 		JBrowse link
G G EXT1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I OMIM
ClinVar		 PMID:7550340 PMID:8981950 PMID:9326317 PMID:9463333 PMID:9521425 More... NCBI chr 8:112,435,733...112,751,301 JBrowse link
G P EXT1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I OMIM
ClinVar		 PMID:7550340 PMID:8981950 PMID:9326317 PMID:9463333 PMID:9521425 More... NCBI chr 4:20,645,002...20,935,769
Ensembl chr 4:20,645,610...20,935,540 		JBrowse link
G S Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I OMIM
ClinVar		 PMID:7550340 PMID:8981950 PMID:9326317 PMID:9463333 PMID:9521425 More... NCBI chrNW_004936470:28,303,213...28,566,470
Ensembl chrNW_004936470:28,303,828...28,566,118 		JBrowse link
G D EXT1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I OMIM
ClinVar		 PMID:7550340 PMID:8981950 PMID:9326317 PMID:9463333 PMID:9521425 More... NCBI chr13:17,172,497...17,457,084
Ensembl chr13:17,172,705...17,456,469 		JBrowse link
G B EXT1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I OMIM
ClinVar		 PMID:7550340 PMID:8981950 PMID:9326317 PMID:9463333 PMID:9521425 More... NCBI chr 8:114,489,325...114,803,763
Ensembl chr 8:117,011,919...117,324,851 		JBrowse link
G C Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I OMIM
ClinVar		 PMID:7550340 PMID:8981950 PMID:9326317 PMID:9463333 PMID:9521425 More... NCBI chrNW_004955417:23,798,044...24,067,759
Ensembl chrNW_004955417:23,798,393...24,067,100 		JBrowse link
G R Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7550340 PMID:8981950 PMID:9326317 PMID:9463333 PMID:9521425 More... NCBI chr 7:84,375,769...84,654,625
Ensembl chr 7:84,375,784...84,655,357 		JBrowse link
G M Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7550340 PMID:8981950 PMID:9326317 PMID:9463333 PMID:9521425 More... NCBI chr15:52,931,657...53,209,579
Ensembl chr15:52,927,434...53,209,555 		JBrowse link
G H EXT1 exostosin glycosyltransferase 1 IAGP
EXP		 ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7550340 PMID:8981950 PMID:9326317 PMID:9463333 PMID:9521425 More... NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826 		JBrowse link
G G EXT2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I ClinVar PMID:23262345 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 1:21,077,159...21,282,317
Ensembl chr 1:21,119,987...21,281,635 		JBrowse link
G P EXT2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I ClinVar PMID:23262345 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 2:18,099,790...18,239,229
Ensembl chr 2:18,209,102...18,232,025 		JBrowse link
G S Ext2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I ClinVar PMID:23262345 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chrNW_004936562:4,345,146...4,489,180
Ensembl chrNW_004936562:4,342,874...4,489,180 		JBrowse link
G D EXT2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I ClinVar PMID:23262345 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr18:44,987,310...45,122,339
Ensembl chr18:44,987,748...45,129,974 		JBrowse link
G B EXT2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I ClinVar PMID:23262345 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr11:44,055,670...44,204,055
Ensembl chr11:44,522,797...44,699,447 		JBrowse link
G C Ext2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I ClinVar PMID:23262345 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chrNW_004955422:3,303,948...3,438,381
Ensembl chrNW_004955422:3,304,842...3,447,908 		JBrowse link
G R Ext2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I ClinVar PMID:23262345 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 3:79,665,414...79,798,077
Ensembl chr 3:79,665,415...79,798,059 		JBrowse link
G M Ext2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I ClinVar PMID:23262345 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 2:93,525,978...93,652,913
Ensembl chr 2:93,491,373...93,652,913 		JBrowse link
G H EXT2 exostosin glycosyltransferase 2 IAGP ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I ClinVar PMID:23262345 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962 		JBrowse link
Multiple Exostoses Type II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G EXT2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE II | ClinVar Annotator: match by term: Exostoses, multiple, type 2 OMIM
ClinVar		 PMID:8894688 PMID:9326317 PMID:9463333 PMID:9536098 PMID:10480354 More... NCBI chr 1:21,077,159...21,282,317
Ensembl chr 1:21,119,987...21,281,635 		JBrowse link
G P EXT2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE II | ClinVar Annotator: match by term: Exostoses, multiple, type 2 OMIM
ClinVar		 PMID:8894688 PMID:9326317 PMID:9463333 PMID:9536098 PMID:10480354 More... NCBI chr 2:18,099,790...18,239,229
Ensembl chr 2:18,209,102...18,232,025 		JBrowse link
G S Ext2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE II | ClinVar Annotator: match by term: Exostoses, multiple, type 2 OMIM
ClinVar		 PMID:8894688 PMID:9326317 PMID:9463333 PMID:9536098 PMID:10480354 More... NCBI chrNW_004936562:4,345,146...4,489,180
Ensembl chrNW_004936562:4,342,874...4,489,180 		JBrowse link
G D EXT2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE II | ClinVar Annotator: match by term: Exostoses, multiple, type 2 OMIM
ClinVar		 PMID:8894688 PMID:9326317 PMID:9463333 PMID:9536098 PMID:10480354 More... NCBI chr18:44,987,310...45,122,339
Ensembl chr18:44,987,748...45,129,974 		JBrowse link
G B EXT2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE II | ClinVar Annotator: match by term: Exostoses, multiple, type 2 OMIM
ClinVar		 PMID:8894688 PMID:9326317 PMID:9463333 PMID:9536098 PMID:10480354 More... NCBI chr11:44,055,670...44,204,055
Ensembl chr11:44,522,797...44,699,447 		JBrowse link
G C Ext2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE II | ClinVar Annotator: match by term: Exostoses, multiple, type 2 OMIM
ClinVar		 PMID:8894688 PMID:9326317 PMID:9463333 PMID:9536098 PMID:10480354 More... NCBI chrNW_004955422:3,303,948...3,438,381
Ensembl chrNW_004955422:3,304,842...3,447,908 		JBrowse link
G R Ext2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE II | ClinVar Annotator: match by term: Exostoses, multiple, type 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8894688 PMID:9326317 PMID:9463333 PMID:9536098 PMID:10480354 More... NCBI chr 3:79,665,414...79,798,077
Ensembl chr 3:79,665,415...79,798,059 		JBrowse link
G M Ext2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE II | ClinVar Annotator: match by term: Exostoses, multiple, type 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8894688 PMID:9326317 PMID:9463333 PMID:9536098 PMID:10480354 More... NCBI chr 2:93,525,978...93,652,913
Ensembl chr 2:93,491,373...93,652,913 		JBrowse link
G H EXT2 exostosin glycosyltransferase 2 IAGP
EXP		 ClinVar Annotator: match by term: Exostoses, multiple, type 2
ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE II | ClinVar Annotator: match by term: Exostoses, multiple, type 2
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:8894688 PMID:9326317 PMID:9463333 PMID:9536098 PMID:10480354 More... NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962 		JBrowse link
G H LOC126861201 MED14-independent group 3 enhancer GRCh37_chr11:44218806-44220005 IAGP ClinVar Annotator: match by term: Exostoses, multiple, type 2 ClinVar PMID:9536098 PMID:10679937 PMID:16199547 PMID:17576681 PMID:19810120 More... NCBI chr11:44,197,256...44,198,455 JBrowse link
G H LOC130005598 ATAC-STARR-seq lymphoblastoid silent region 3272 IAGP ClinVar Annotator: match by term: Exostoses, multiple, type 2 ClinVar PMID:25741868 NCBI chr11:44,095,545...44,096,164 JBrowse link
G H LOC130005600 ATAC-STARR-seq lymphoblastoid active region 4651 IAGP ClinVar Annotator: match by term: Exostoses, multiple, type 2 ClinVar PMID:28492532 NCBI chr11:44,110,447...44,110,526 JBrowse link
G H LOC130005601 ATAC-STARR-seq lymphoblastoid active region 4652 IAGP ClinVar Annotator: match by term: Exostoses, multiple, type 2 ClinVar PMID:28492532 NCBI chr11:44,113,447...44,113,496 JBrowse link
Stuve-Wiedemann Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H CCNO-DT CCNO divergent transcript IAGP ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar NCBI chr 5:55,233,894...55,295,302
Ensembl chr 5:55,233,934...55,295,201 		JBrowse link
G N Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624764:6,639,152...6,736,161
Ensembl chrNW_004624764:6,640,087...6,708,130 		JBrowse link
G G HSPG2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr20:110,693,858...110,809,467
Ensembl chr20:110,693,854...110,809,466 		JBrowse link
G P HSPG2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:79,849,691...79,958,283
Ensembl chr 6:79,849,698...79,958,334 		JBrowse link
G S Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936474:7,407,622...7,478,950
Ensembl chrNW_004936474:7,408,518...7,467,851 		JBrowse link
G D HSPG2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:77,263,534...77,366,558
Ensembl chr 2:77,301,858...77,367,724 		JBrowse link
G B HSPG2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:21,014,951...21,129,937
Ensembl chr 1:21,979,504...22,053,400 		JBrowse link
G C Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955452:2,056,428...2,141,937
Ensembl chrNW_004955452:2,057,326...2,120,280 		JBrowse link
G R Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594 		JBrowse link
G M Hspg2 perlecan (heparan sulfate proteoglycan 2) ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:137,196,062...137,297,941
Ensembl chr 4:137,196,080...137,297,941 		JBrowse link
G H HSPG2 heparan sulfate proteoglycan 2 IAGP ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G N Il6st interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:25741868 PMID:31914175 NCBI chrNW_004624759:3,258,324...3,315,265
Ensembl chrNW_004624759:3,276,741...3,312,601 		JBrowse link
G G IL6ST interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:25741868 PMID:31914175 NCBI chr 4:52,174,893...52,232,475
Ensembl chr 4:52,174,312...52,214,584 		JBrowse link
G P IL6ST interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:25741868 PMID:31914175 NCBI chr16:35,101,304...35,151,832
Ensembl chr16:35,101,306...35,192,220 		JBrowse link
G S Il6st interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:25741868 PMID:31914175 NCBI chrNW_004936480:11,867,573...11,913,563
Ensembl chrNW_004936480:11,884,582...11,909,635 		JBrowse link
G D IL6ST interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:25741868 PMID:31914175 NCBI chr 2:43,214,050...43,273,014
Ensembl chr 2:43,214,050...43,248,124 		JBrowse link
G B IL6ST interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:25741868 PMID:31914175 NCBI chr 5:58,023,704...58,081,895
Ensembl chr 5:59,669,606...59,708,817 		JBrowse link
G C Il6st interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:25741868 PMID:31914175 NCBI chrNW_004955446:11,790,636...11,837,734
Ensembl chrNW_004955446:11,790,444...11,835,001 		JBrowse link
G R Il6st interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:25741868 PMID:31914175 NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936 		JBrowse link
G M Il6st interleukin 6 signal transducer ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:25741868 PMID:31914175 NCBI chr13:112,600,604...112,643,394
Ensembl chr13:112,600,604...112,646,620 		JBrowse link
G H IL6ST interleukin 6 cytokine family signal transducer IAGP ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:25741868 PMID:31914175 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022 		JBrowse link
G N Lifr LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More... NCBI chrNW_004624759:16,368,390...16,478,486
Ensembl chrNW_004624759:16,410,687...16,472,014 		JBrowse link
G G LIFR LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More... NCBI chr 4:37,307,753...37,385,489
Ensembl chr 4:37,314,347...37,362,137 		JBrowse link
G S Lifr LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More... NCBI chrNW_004936518:3,651,630...3,693,072
Ensembl chrNW_004936518:3,652,152...3,693,078 		JBrowse link
G D LIFR LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More... NCBI chr 4:70,328,963...70,376,127
Ensembl chr 4:70,267,514...70,376,127 		JBrowse link
G B LIFR LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More... NCBI chr 5:71,817,431...71,899,101
Ensembl chr 5:76,878,633...76,928,267 		JBrowse link
G C Lifr LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More... NCBI chrNW_004955426:23,045,867...23,093,694
Ensembl chrNW_004955426:23,047,167...23,116,891 		JBrowse link
G R Lifr LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More... NCBI chr 2:56,224,393...56,292,988
Ensembl chr 2:56,250,120...56,286,699 		JBrowse link
G M Lifr LIF receptor alpha ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More... NCBI chr15:7,120,091...7,226,970
Ensembl chr15:7,120,095...7,226,970 		JBrowse link
G H LIFR LIF receptor subunit alpha IAGP ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More... NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
G H LIFR-AS1 LIFR antisense RNA 1 IAGP ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar NCBI chr 5:38,556,786...38,671,216
Ensembl chr 5:38,556,765...38,671,216 		JBrowse link
G P LOC102167255 leukemia inhibitory factor receptor ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More... NCBI chr16:23,627,700...23,672,724
Ensembl chr16:23,634,298...23,804,854 		JBrowse link
Stuve-Wiedemann Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Stüve-Wiedemann syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624764:6,639,152...6,736,161
Ensembl chrNW_004624764:6,640,087...6,708,130 		JBrowse link
G G HSPG2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Stüve-Wiedemann syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr20:110,693,858...110,809,467
Ensembl chr20:110,693,854...110,809,466 		JBrowse link
G P HSPG2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Stüve-Wiedemann syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:79,849,691...79,958,283
Ensembl chr 6:79,849,698...79,958,334 		JBrowse link
G S Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Stüve-Wiedemann syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936474:7,407,622...7,478,950
Ensembl chrNW_004936474:7,408,518...7,467,851 		JBrowse link
G D HSPG2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Stüve-Wiedemann syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:77,263,534...77,366,558
Ensembl chr 2:77,301,858...77,367,724 		JBrowse link
G B HSPG2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Stüve-Wiedemann syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:21,014,951...21,129,937
Ensembl chr 1:21,979,504...22,053,400 		JBrowse link
G C Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Stüve-Wiedemann syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955452:2,056,428...2,141,937
Ensembl chrNW_004955452:2,057,326...2,120,280 		JBrowse link
G R Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Stüve-Wiedemann syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594 		JBrowse link
G M Hspg2 perlecan (heparan sulfate proteoglycan 2) ISO ClinVar Annotator: match by term: Stüve-Wiedemann syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:137,196,062...137,297,941
Ensembl chr 4:137,196,080...137,297,941 		JBrowse link
G H HSPG2 heparan sulfate proteoglycan 2 IAGP ClinVar Annotator: match by term: Stüve-Wiedemann syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G N Lifr LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Stüve-Wiedemann syndrome | ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More... NCBI chrNW_004624759:16,368,390...16,478,486
Ensembl chrNW_004624759:16,410,687...16,472,014 		JBrowse link
G G LIFR LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Stüve-Wiedemann syndrome | ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More... NCBI chr 4:37,307,753...37,385,489
Ensembl chr 4:37,314,347...37,362,137 		JBrowse link
G S Lifr LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Stüve-Wiedemann syndrome | ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More... NCBI chrNW_004936518:3,651,630...3,693,072
Ensembl chrNW_004936518:3,652,152...3,693,078 		JBrowse link
G D LIFR LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Stüve-Wiedemann syndrome | ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More... NCBI chr 4:70,328,963...70,376,127
Ensembl chr 4:70,267,514...70,376,127 		JBrowse link
G B LIFR LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Stüve-Wiedemann syndrome | ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More... NCBI chr 5:71,817,431...71,899,101
Ensembl chr 5:76,878,633...76,928,267 		JBrowse link
G C Lifr LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Stüve-Wiedemann syndrome | ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More... NCBI chrNW_004955426:23,045,867...23,093,694
Ensembl chrNW_004955426:23,047,167...23,116,891 		JBrowse link
G R Lifr LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Stüve-Wiedemann syndrome | ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More... NCBI chr 2:56,224,393...56,292,988
Ensembl chr 2:56,250,120...56,286,699 		JBrowse link
G M Lifr LIF receptor alpha ISO ClinVar Annotator: match by term: Stüve-Wiedemann syndrome | ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More... NCBI chr15:7,120,091...7,226,970
Ensembl chr15:7,120,095...7,226,970 		JBrowse link
G H LIFR LIF receptor subunit alpha IAGP
EXP		 ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1
ClinVar Annotator: match by term: Stüve-Wiedemann syndrome | ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More... NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
G P LOC102167255 leukemia inhibitory factor receptor ISO ClinVar Annotator: match by term: Stüve-Wiedemann syndrome | ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More... NCBI chr16:23,627,700...23,672,724
Ensembl chr16:23,634,298...23,804,854 		JBrowse link
Stuve-Wiedemann Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624837:7,054,659...7,138,840
Ensembl chrNW_004624837:7,054,813...7,138,097 		JBrowse link
G G CEP290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr11:83,420,911...83,515,466
Ensembl chr11:83,412,379...83,514,596 		JBrowse link
G P CEP290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:94,384,397...94,474,337
Ensembl chr 5:94,384,415...94,474,335 		JBrowse link
G S Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936507:5,223,756...5,305,392
Ensembl chrNW_004936507:5,221,910...5,305,422 		JBrowse link
G D CEP290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr15:29,194,449...29,281,351
Ensembl chr15:29,194,983...29,280,429 		JBrowse link
G B CEP290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:85,589,911...85,683,365
Ensembl chr12:88,896,146...88,988,044 		JBrowse link
G C Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955405:25,533,037...25,607,021
Ensembl chrNW_004955405:25,533,525...25,606,212 		JBrowse link
G R Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392 		JBrowse link
G M Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:100,323,410...100,409,527
Ensembl chr10:100,323,420...100,410,702 		JBrowse link
G H CEP290 centrosomal protein 290 IAGP ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G N Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624915:701,983...708,079 JBrowse link
G G CIMIP2B ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:44,991,633...45,041,573
Ensembl chr12:45,039,593...45,041,415 		JBrowse link
G P CIMIP2B ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:236,322,893...236,325,008
Ensembl chr 1:236,322,897...236,324,981 		JBrowse link
G S Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936524:3,594,530...3,597,055
Ensembl chrNW_004936524:3,594,552...3,596,371 		JBrowse link
G D CIMIP2B ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr11:52,144,806...52,164,782
Ensembl chr11:52,144,801...52,146,823 		JBrowse link
G B CIMIP2B ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:35,411,930...35,442,971
Ensembl chr 9:36,216,030...36,260,042 		JBrowse link
G C Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955472:695,955...698,086
Ensembl chrNW_004955472:696,157...697,922 		JBrowse link
G R Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:57,675,537...57,680,133
Ensembl chr 5:57,675,462...57,678,611 		JBrowse link
G M Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:43,427,014...43,431,451
Ensembl chr 4:43,427,019...43,429,134 		JBrowse link
G H CIMIP2B ciliary microtubule inner protein 2B IAGP ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:35,561,831...35,563,878
Ensembl chr 9:35,561,831...35,563,899 		JBrowse link
G N Il6st interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31914175 NCBI chrNW_004624759:3,258,324...3,315,265
Ensembl chrNW_004624759:3,276,741...3,312,601 		JBrowse link
G G IL6ST interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31914175 NCBI chr 4:52,174,893...52,232,475
Ensembl chr 4:52,174,312...52,214,584 		JBrowse link
G P IL6ST interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31914175 NCBI chr16:35,101,304...35,151,832
Ensembl chr16:35,101,306...35,192,220 		JBrowse link
G S Il6st interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31914175 NCBI chrNW_004936480:11,867,573...11,913,563
Ensembl chrNW_004936480:11,884,582...11,909,635 		JBrowse link
G D IL6ST interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31914175 NCBI chr 2:43,214,050...43,273,014
Ensembl chr 2:43,214,050...43,248,124 		JBrowse link
G B IL6ST interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31914175 NCBI chr 5:58,023,704...58,081,895
Ensembl chr 5:59,669,606...59,708,817 		JBrowse link
G C Il6st interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31914175 NCBI chrNW_004955446:11,790,636...11,837,734
Ensembl chrNW_004955446:11,790,444...11,835,001 		JBrowse link
G R Il6st interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31914175 NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936 		JBrowse link
G M Il6st interleukin 6 signal transducer ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31914175 NCBI chr13:112,600,604...112,643,394
Ensembl chr13:112,600,604...112,646,620 		JBrowse link
G H IL6ST interleukin 6 cytokine family signal transducer IAGP ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31914175 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022 		JBrowse link
G N Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624915:636,775...701,983
Ensembl chrNW_004624915:676,266...705,447 		JBrowse link
G G RUSC2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:45,041,514...45,110,793
Ensembl chr12:45,038,683...45,056,872 		JBrowse link
G P RUSC2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:236,265,915...236,322,958
Ensembl chr 1:236,299,344...236,322,953 		JBrowse link
G S Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936524:3,535,122...3,594,452
Ensembl chrNW_004936524:3,535,175...3,596,077 		JBrowse link
G D RUSC2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr11:52,074,234...52,144,854
Ensembl chr11:52,120,179...52,144,356 		JBrowse link
G B RUSC2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:35,339,146...35,411,989
Ensembl chr 9:36,200,865...36,215,582 		JBrowse link
G C Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955472:698,021...742,966
Ensembl chrNW_004955472:698,513...741,758 		JBrowse link
G R Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:57,628,397...57,675,524
Ensembl chr 5:57,629,904...57,675,524 		JBrowse link
G M Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:43,377,202...43,427,088
Ensembl chr 4:43,381,979...43,427,088 		JBrowse link
G H RUSC2 RUN and SH3 domain containing 2 IAGP ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:35,490,111...35,561,895
Ensembl chr 9:35,490,111...35,561,898 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 199753
    Developmental Disease 191181
      bone development disease 23417
        osteochondrodysplasia 8879
          Osteochondroma 276
            Osteochondromatosis 266
              hereditary multiple exostoses + 266
Path 2
Term Annotations click to browse term
  disease 199753
    disease of anatomical entity 168001
      musculoskeletal system disease 80596
        connective tissue disease 54479
          bone disease 39886
            bone development disease 23417
              osteochondrodysplasia 8879
                Osteochondroma 276
                  Osteochondromatosis 266
                    hereditary multiple exostoses + 266
paths to the root