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: Chondromatosis
Accession: DOID:9000685
browse the term
Definition: Multiple formation of chondromas. (Dorland, 27th ed)
Synonyms: exact_synonym: Chondromatoses
primary_id: MESH:D018210
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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
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 PMID:10523019 PMID:17164305 PMID:17576681 PMID:18559376 PMID:21404329 PMID:23771181 PMID:25741868 PMID:28492532 PMID:31986066 More...
NCBI chr13:29,749,940...29,775,361
Ensembl chr13:29,753,326...29,775,348
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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
G
CCN3
cellular communication network factor 3
ISO
ClinVar Annotator: match by term: Multiple congenital exostosis
ClinVar
PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381
NCBI chr 4:19,505,698...19,514,481
Ensembl chr 4:19,505,701...19,514,406
G
COL14A1
collagen type XIV alpha 1 chain
ISO
ClinVar Annotator: match by term: Multiple congenital exostosis
ClinVar
PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381
NCBI chr 4:18,690,197...18,925,111
Ensembl chr 4:18,690,198...18,924,971
G
COLEC10
collectin subfamily member 10
ISO
ClinVar Annotator: match by term: Multiple congenital exostosis
ClinVar
PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381
NCBI chr 4:19,692,990...20,143,740
Ensembl chr 4:19,692,830...19,744,135
G
DEPTOR
DEP domain containing MTOR interacting protein
ISO
ClinVar Annotator: match by term: Multiple congenital exostosis
ClinVar
PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381
NCBI chr 4:18,969,509...19,180,131
Ensembl chr 4:18,976,743...19,180,117
G
DSCC1
DNA replication and sister chromatid cohesion 1
ISO
ClinVar Annotator: match by term: Multiple congenital exostosis
ClinVar
PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381
NCBI chr 4:19,161,063...19,180,002
Ensembl chr 4:19,161,226...19,178,568
G
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
G
ENPP2
ectonucleotide pyrophosphatase/phosphodiesterase 2
ISO
ClinVar Annotator: match by term: Multiple congenital exostosis
ClinVar
PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381
NCBI chr 4:19,319,815...19,433,492
Ensembl chr 4:19,319,810...19,433,488
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 PMID:9463333 PMID:9521425 PMID:9536098 PMID:9620772 PMID:10480354 PMID:10639137 PMID:10679296 PMID:10679937 PMID:10713884 PMID:11170095 PMID:11342960 PMID:11391482 PMID:11432960 PMID:11668521 PMID:12032595 PMID:12239711 PMID:12490068 PMID:15221792 PMID:15253765 PMID:15586175 PMID:16088908 PMID:16199547 PMID:16283885 PMID:16638657 PMID:16879194 PMID:17041877 PMID:17301954 PMID:17576681 PMID:17589361 PMID:18165274 PMID:18330718 PMID:18373409 PMID:18452536 PMID:18976157 PMID:19344451 PMID:19810120 PMID:19819120 PMID:19839753 PMID:20025490 PMID:20418910 PMID:21499719 PMID:21520333 PMID:21703028 PMID:22258776 PMID:22382802 PMID:22820392 PMID:22913777 PMID:23262345 PMID:23439489 PMID:23629877 PMID:24120389 PMID:24496678 PMID:24532482 PMID:24728327 PMID:25230886 PMID:25468659 PMID:25525159 PMID:25541963 PMID:25640679 PMID:25727835 PMID:25741868 PMID:26239617 PMID:26515642 PMID:26622573 PMID:26690531 PMID:26839764 PMID:26961984 PMID:28492532 PMID:28600779 PMID:28604967 PMID:28690282 PMID:29126381 PMID:29529714 PMID:29620724 PMID:29989442 PMID:30334991 PMID:30806661 PMID:31096510 PMID:31400121 PMID:33632255 PMID:33726816 PMID:36247276 More...
NCBI chr 4:20,645,002...20,935,769
Ensembl chr 4:20,645,610...20,935,540
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 2:18,099,790...18,239,229
Ensembl chr 2:18,209,102...18,232,025
G
MAL2
mal, T cell differentiation protein 2
ISO
ClinVar Annotator: match by term: Multiple congenital exostosis
ClinVar
PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381
NCBI chr 4:19,593,536...19,658,695
Ensembl chr 4:19,593,536...19,617,671
G
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
G
MRPL13
mitochondrial ribosomal protein L13
ISO
ClinVar Annotator: match by term: Multiple congenital exostosis
ClinVar
PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381
NCBI chr 4:18,608,919...18,671,523
Ensembl chr 4:18,608,883...18,671,517
G
MTBP
MDM2 binding protein
ISO
ClinVar Annotator: match by term: Multiple congenital exostosis
ClinVar
PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381
NCBI chr 4:18,533,201...18,608,702
Ensembl chr 4:18,532,041...18,608,602
G
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
G
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
G
SAMD12
sterile alpha motif domain containing 12
ISO
ClinVar Annotator: match by term: Multiple congenital exostosis
ClinVar
PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381
NCBI chr 4:20,143,614...20,570,780
Ensembl chr 4:20,143,883...20,570,768
G
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
G
SNTB1
syntrophin beta 1
ISO
ClinVar Annotator: match by term: Multiple congenital exostosis
ClinVar
PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381
NCBI chr 4:18,288,756...18,524,362
Ensembl chr 4:18,288,843...18,526,215
G
TAF2
TATA-box binding protein associated factor 2
ISO
ClinVar Annotator: match by term: Multiple congenital exostosis
ClinVar
PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381
NCBI chr 4:19,180,215...19,267,416
Ensembl chr 4:19,180,320...19,267,071
G
TNFRSF11B
TNF receptor superfamily member 11b
ISO
ClinVar Annotator: match by term: Multiple congenital exostosis
ClinVar
PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381
NCBI chr 4:19,850,212...19,879,132
Ensembl chr 4:19,850,350...19,879,125
G
TRPS1
transcriptional repressor GATA binding 1
ISO
ClinVar Annotator: match by term: Multiple congenital exostosis
ClinVar
PMID:28492532
NCBI chr 4:22,905,627...23,162,862
Ensembl chr 4:22,905,637...23,159,546
G
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
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
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 PMID:20542149 PMID:23836246 PMID:24011702 PMID:24088041 PMID:24781210 PMID:25504735 PMID:25741868 PMID:25741881 PMID:25803036 PMID:26467025 PMID:26508570 PMID:26633545 PMID:28242392 PMID:28492532 PMID:29271572 PMID:29620724 PMID:29901129 PMID:30362252 PMID:31127727 PMID:34244600 PMID:34906502 PMID:35982159 More...
NCBI chr 6:79,849,691...79,958,283
Ensembl chr 6:79,849,698...79,958,334
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 chr 6:79,837,734...79,850,311
Ensembl chr 6:79,838,616...79,849,661
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
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 PMID:11992261 PMID:12058348 PMID:12161469 PMID:12161596 PMID:12325025 PMID:12529711 PMID:12634870 PMID:12717436 PMID:12739139 PMID:12826400 PMID:12900909 PMID:12960218 PMID:13908956 PMID:14634749 PMID:14644997 PMID:14676626 PMID:14961557 PMID:14974085 PMID:14982869 PMID:15001945 PMID:15009076 PMID:15121796 PMID:15240615 PMID:15248152 PMID:15273746 PMID:15385933 PMID:15389709 PMID:15520399 PMID:15539800 PMID:15604238 PMID:15689434 PMID:15710330 PMID:15712196 PMID:15723289 PMID:15725481 PMID:15761018 PMID:15834506 PMID:15842656 PMID:15889278 PMID:15928039 PMID:15929108 PMID:15940693 PMID:15948193 PMID:15956085 PMID:15985475 PMID:15987685 PMID:15996221 PMID:16053901 PMID:16115145 PMID:16124853 PMID:16166557 PMID:16263833 PMID:16338218 PMID:16358218 PMID:16369799 PMID:16377799 PMID:16399795 PMID:16461457 PMID:16488201 PMID:16498234 PMID:16518851 PMID:16523510 PMID:16533526 PMID:16631468 PMID:16638574 PMID:16643459 PMID:16679933 PMID:16733669 PMID:16804314 PMID:16830086 PMID:16892325 PMID:16924159 PMID:16987887 PMID:16990350 PMID:17020470 PMID:17052965 PMID:17143285 PMID:17177198 PMID:17222357 PMID:17227708 PMID:17339163 PMID:17361219 PMID:17497712 PMID:17515436 PMID:17546245 PMID:17576681 PMID:17641779 PMID:17661820 PMID:17875892 PMID:17910045 PMID:17935252 PMID:17972951 PMID:18080325 PMID:18241070 PMID:18253957 PMID:18331608 PMID:18372317 PMID:18373317 PMID:18378677 PMID:18454468 PMID:18470943 PMID:18562489 PMID:18678287 PMID:18758896 PMID:18759865 PMID:18849586 PMID:18854871 PMID:19008228 PMID:19017799 PMID:19020799 PMID:19047918 PMID:19054014 PMID:19061217 PMID:19063751 PMID:19077116 PMID:19120036 PMID:19125092 PMID:19133693 PMID:19174044 PMID:19179468 PMID:19251646 PMID:19260062 PMID:19352411 PMID:19449407 PMID:19509418 PMID:19568997 PMID:19621452 PMID:19706403 PMID:19725129 PMID:19737548 PMID:19768645 PMID:19795160 PMID:19825837 PMID:19835954 PMID:19864201 PMID:20030748 PMID:20186801 PMID:20237506 PMID:20301303 PMID:20301557 PMID:20308328 PMID:20383758 PMID:20493809 PMID:20535210 PMID:20543023 PMID:20577567 PMID:20578946 PMID:20651068 PMID:20718194 PMID:20883402 PMID:20954246 PMID:20979190 PMID:21106241 PMID:21204800 PMID:21321969 PMID:21339643 PMID:21340158 PMID:21365175 PMID:21365683 PMID:21396583 PMID:21407260 PMID:21526175 PMID:21533187 PMID:21548061 PMID:21567923 PMID:21590266 PMID:21747628 PMID:21784453 PMID:21901340 PMID:21910226 PMID:21910245 PMID:21934682 PMID:22190897 PMID:22315187 PMID:22371576 PMID:22411627 PMID:22420426 PMID:22465605 PMID:22488759 PMID:22551697 PMID:22555271 PMID:22585553 PMID:22681964 PMID:22711529 PMID:22781091 PMID:22822385 PMID:22847776 PMID:22848035 PMID:22923420 PMID:23297836 PMID:23317994 PMID:23321623 PMID:23334668 PMID:23446178 PMID:23457302 PMID:23513489 PMID:23584145 PMID:23624134 PMID:23673659 PMID:23726368 PMID:23756559 PMID:23771920 PMID:23813970 PMID:23832011 PMID:23996481 PMID:24030381 PMID:24033266 PMID:24037001 PMID:24039098 PMID:24072241 PMID:24150203 PMID:24183200 PMID:24219368 PMID:24401936 PMID:24451042 PMID:24458522 PMID:24628801 PMID:24718990 PMID:24728327 PMID:24754368 PMID:24767283 PMID:24775816 PMID:24803665 PMID:24820750 PMID:24891296 PMID:24896146 PMID:24935154 PMID:25097206 PMID:25156961 PMID:25231023 PMID:25326637 PMID:25337068 PMID:25383899 PMID:25395418 PMID:25425531 PMID:25500235 PMID:25533962 PMID:25544017 PMID:25595571 PMID:25612910 PMID:25722345 PMID:25731833 PMID:25741868 PMID:25741869 PMID:25742478 PMID:25862627 PMID:25884655 PMID:25912702 PMID:25914815 PMID:25917897 PMID:26084119 PMID:26206283 PMID:26242988 PMID:26286251 PMID:26337637 PMID:26372199 PMID:26456833 PMID:26467025 PMID:26495027 PMID:26556299 PMID:26607044 PMID:26633542 PMID:26645620 PMID:26673822 PMID:26785492 PMID:26817465 PMID:26822237 PMID:26918529 PMID:27030275 PMID:27038324 PMID:27069254 PMID:27104176 PMID:27117572 PMID:27149842 PMID:27153395 PMID:27193571 PMID:27238887 PMID:27276561 PMID:27353043 PMID:27460089 PMID:27484170 PMID:27521173 PMID:27562378 PMID:27626068 PMID:27659786 PMID:27884971 PMID:28051113 PMID:28074573 PMID:28135719 PMID:28191889 PMID:28363362 PMID:28483241 PMID:28492532 PMID:28628100 PMID:28650561 PMID:28681392 PMID:28748642 PMID:28911804 PMID:28921562 PMID:28957739 PMID:28991257 PMID:29038591 PMID:29057136 PMID:29146883 PMID:29212898 PMID:29214238 PMID:29263817 PMID:29276006 PMID:29346770 PMID:29356064 PMID:29493581 PMID:29517769 PMID:29555671 PMID:29620724 PMID:29693080 PMID:29703613 PMID:29848529 PMID:29907801 PMID:29988639 PMID:30025578 PMID:30029678 PMID:30050098 PMID:30055033 PMID:30287924 PMID:30294303 PMID:30311386 PMID:30325180 PMID:30355600 PMID:30410095 PMID:30417923 PMID:30455982 PMID:30515541 PMID:30541462 PMID:30544257 PMID:30602027 PMID:30604644 PMID:30692697 PMID:30693642 PMID:30732632 PMID:30784236 PMID:30896080 PMID:31040167 PMID:31064749 PMID:31164752 PMID:31219622 PMID:31370276 PMID:31560489 PMID:31564432 PMID:31573083 PMID:31637070 PMID:31827275 PMID:31941532 PMID:32059087 PMID:32164556 PMID:32233106 PMID:32368696 PMID:32371413 PMID:32410215 PMID:32581362 PMID:32719394 PMID:32737134 PMID:32746448 PMID:32824488 PMID:32860008 PMID:32901917 PMID:32963807 PMID:33091040 PMID:33318624 PMID:33568805 PMID:33726816 PMID:33811550 PMID:34006472 PMID:34008892 PMID:34143244 PMID:34194850 PMID:34356170 PMID:34411415 PMID:34782754 PMID:34974531 PMID:35418823 PMID:35858754 PMID:35885957 PMID:35904599 PMID:35979676 PMID:36135330 PMID:36474027 PMID:36567979 PMID:36939041 PMID:37019085 PMID:37493574 PMID:37525886 PMID:37568403 PMID:37605180 PMID:37987971 More...
NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003
G
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
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
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 PMID:9620772 PMID:10639137 PMID:10679296 PMID:10679937 PMID:10713884 PMID:11170095 PMID:11391482 PMID:11432960 PMID:15253765 PMID:15586175 PMID:16088908 PMID:16199547 PMID:16283885 PMID:17041877 PMID:17301954 PMID:18165274 PMID:18330718 PMID:19810120 PMID:20418910 PMID:21039224 PMID:22258776 PMID:23262345 PMID:23439489 PMID:24532482 PMID:24728327 PMID:25230886 PMID:25468659 PMID:25741868 PMID:26239617 PMID:26515642 PMID:26690531 PMID:26961984 PMID:28492532 PMID:28600779 PMID:29126381 PMID:29529714 PMID:30334991 PMID:30806661 PMID:33726816 PMID:37352859 More...
NCBI chr 4:20,645,002...20,935,769
Ensembl chr 4:20,645,610...20,935,540
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 2:18,099,790...18,239,229
Ensembl chr 2:18,209,102...18,232,025
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
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 PMID:10671060 PMID:10679937 PMID:10713884 PMID:10750558 PMID:11169766 PMID:11170095 PMID:11432960 PMID:11668521 PMID:12239711 PMID:12490068 PMID:15221792 PMID:15586175 PMID:15796962 PMID:16088908 PMID:16199547 PMID:16283885 PMID:17041877 PMID:17301954 PMID:17576681 PMID:17589361 PMID:18165274 PMID:18373409 PMID:18666861 PMID:18976157 PMID:19309273 PMID:19344451 PMID:19504431 PMID:19810120 PMID:19839753 PMID:20425833 PMID:21520333 PMID:21703028 PMID:22258776 PMID:22382802 PMID:22820392 PMID:23262345 PMID:23439489 PMID:23629877 PMID:24120389 PMID:24496678 PMID:24532482 PMID:24728327 PMID:24728384 PMID:25230886 PMID:25449079 PMID:25468659 PMID:25591329 PMID:25640679 PMID:25741868 PMID:25744876 PMID:26246518 PMID:26402641 PMID:26961984 PMID:27748933 PMID:28492532 PMID:28690282 PMID:28849184 PMID:29126381 PMID:29529714 PMID:29625052 PMID:30075207 PMID:30288735 PMID:30334991 PMID:30544257 PMID:30806661 PMID:30997052 PMID:31030431 PMID:31096510 PMID:32293802 PMID:34070849 PMID:34092239 PMID:34403521 More...
NCBI chr 2:18,099,790...18,239,229
Ensembl chr 2:18,209,102...18,232,025
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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
G
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
G
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 PMID:20447141 PMID:24033266 PMID:24477277 PMID:24988918 PMID:25326635 PMID:25540807 PMID:25741868 PMID:25868946 PMID:26627873 PMID:26752647 PMID:28334964 PMID:28492532 PMID:30614825 PMID:34063511 PMID:34426522 More...
NCBI chr16:23,627,700...23,672,724
Ensembl chr16:23,634,298...23,804,854
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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
G
LOC102167255
leukemia inhibitory factor receptor
ISO
ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1 ClinVar Annotator: match by term: LIFR-related condition | ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1
OMIM ClinVar
PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 PMID:24477277 PMID:25741868 PMID:25868946 PMID:26627873 PMID:28334964 PMID:28492532 PMID:30919572 PMID:34063511 PMID:34426522 More...
NCBI chr16:23,627,700...23,672,724
Ensembl chr16:23,634,298...23,804,854
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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
G
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
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 chr16:35,101,304...35,151,832
Ensembl chr16:35,101,306...35,192,220
G
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
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