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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:bone structure disease
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Accession:DOID:0080010 term browser browse the term
Definition:A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure. (DO)
Synonyms:exact_synonym: ABNORMAL BONE STRUCTURE
 narrow_synonym: Abnormality of bone mineral density
 xref: HP:0003330;   HP:0004348;   MP:0003795

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bone structure disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POSTN periostin ISO MouseDO NCBI chr 3:16,060,013...16,095,867
Ensembl chr 3:16,059,965...16,095,791 		JBrowse link
G QRFPR pyroglutamylated RFamide peptide receptor ISO MouseDO NCBI chr 7:68,617,661...68,672,874
Ensembl chr 7:68,615,807...68,672,477 		JBrowse link
Camptocormia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF3 growth differentiation factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22613031 NCBI chr11:7,727,818...7,733,514
Ensembl chr11:7,727,913...7,733,075 		JBrowse link
G LOC103231480 myosin-7 ISO ClinVar Annotator: match by term: Bent Spine Syndrome ClinVar PMID:12707239 PMID:23861362 PMID:24793961 PMID:25467552 PMID:25741868 More... NCBI chr29:23,783,610...23,804,981
Ensembl chr29:23,783,557...23,799,771 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Bent Spine Syndrome ClinVar PMID:16621917 PMID:17452231 PMID:18546365 PMID:19189930 PMID:19578034 More... NCBI chr29:7,864,319...7,881,577
Ensembl chr29:7,863,277...7,882,068 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Bent Spine Syndrome ClinVar PMID:17486094 PMID:21378381 PMID:24741716 PMID:25741868 PMID:28492532 More... NCBI chr 8:97,055,111...97,091,980 JBrowse link
CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRDM13 PR/SET domain 13 ISO ClinVar Annotator: match by term: Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism | ClinVar Annotator: match by term: PRDM13-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:34730112 NCBI chr13:74,267,245...74,280,131
Ensembl chr13:74,267,329...74,275,085 		JBrowse link
congenital myopathy 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PAX7 paired box 7 ISO ClinVar Annotator: match by term: Myopathy, congenital, progressive, with scoliosis OMIM
ClinVar		 PMID:25741868 PMID:31092906 PMID:32214227 NCBI chr20:113,810,646...113,929,136
Ensembl chr20:113,823,392...113,928,548 		JBrowse link
degenerative disc disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAN aggrecan treatment ISO associated with Renal Insufficiency
mRNA:decreased expression:intervertebral disk 		RGD PMID:19063844 PMID:24285589 RGD:10043178 RGD:11570539 NCBI chr29:7,345,350...7,416,951 JBrowse link
G ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif 4 ISO RGD PMID:22394620 RGD:10043115 NCBI chr20:2,781,184...2,791,464
Ensembl chr20:2,783,855...2,792,170 		JBrowse link
G ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 ISO mRNA:increased expression:intervertebral disk of cervical vertebra RGD PMID:20948465 PMID:22394620 RGD:10043115 RGD:8661231 NCBI chr 2:65,252,922...65,359,167
Ensembl chr 2:65,254,285...65,299,800 		JBrowse link
G ASPN asporin severity
susceptibility		 ISO mRNA:increased expression:intervertebral disk:
DNA:repeats:exon:		 RGD PMID:18304494 PMID:19327154 RGD:9684961 RGD:9684970 NCBI chr12:102,972,652...102,999,248
Ensembl chr12:102,972,541...102,999,368 		JBrowse link
G ATG7 autophagy related 7 ameliorates ISO RGD PMID:33372336 RGD:407571673 NCBI chr22:47,187,305...47,571,309
Ensembl chr22:47,325,614...47,571,070 		JBrowse link
G BECN1 beclin 1 ISO protein:increased expression:intervertebral disc RGD PMID:22835012 RGD:11561942 NCBI chr16:63,469,187...63,482,627
Ensembl chr16:63,469,192...63,485,322 		JBrowse link
G COL10A1 collagen type X alpha 1 chain ISO RGD PMID:20948465 RGD:8661231 NCBI chr13:57,657,310...57,697,955
Ensembl chr13:57,691,409...57,696,783 		JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO DNA:SNP: :rs2075555 (human) RGD PMID:19180518 RGD:5688293 NCBI chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930 		JBrowse link
G COL2A1 collagen type II alpha 1 chain treatment ISO mRNA:decreased expression:intervertebral disc (rat)
associated with Renal Insufficiency		 RGD PMID:19063844 PMID:20948465 PMID:24285589 RGD:10043178 RGD:11570539 RGD:8661231 NCBI chr11:44,196,213...44,227,718
Ensembl chr11:44,196,094...44,227,468 		JBrowse link
G CRK CRK proto-oncogene, adaptor protein treatment ISO RGD PMID:23055810 RGD:11568070 NCBI chr16:1,102,485...1,135,225
Ensembl chr16:1,102,348...1,135,166 		JBrowse link
G ELAVL1 ELAV like RNA binding protein 1 ISO associated with diabetes mellitus;protein:decreased expression:nucleus pulposus RGD PMID:33372336 RGD:407571673 NCBI chr 6:7,419,489...7,448,917
Ensembl chr 6:7,414,757...7,448,445 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO associated with Progeria RGD PMID:20973062 RGD:13207419 NCBI chr 6:38,857,067...38,900,177
Ensembl chr 6:38,854,803...38,872,967 		JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit treatment ISO RGD PMID:29208967 RGD:405650595 NCBI chr24:52,497,465...52,501,161
Ensembl chr24:52,497,521...52,501,514 		JBrowse link
G GSK3B glycogen synthase kinase 3 beta ISO RGD PMID:29393545 RGD:13792726 NCBI chr22:60,732,449...61,002,735
Ensembl chr22:60,733,465...60,997,239 		JBrowse link
G LOC103231892 metalloproteinase inhibitor 1 treatment ISO associated with Renal Insufficiency RGD PMID:19063844 RGD:10043178 NCBI chr  X:44,759,412...44,763,243
Ensembl chr  X:44,760,531...44,765,571 		JBrowse link
G MAP1LC3A microtubule associated protein 1 light chain 3 alpha ISO protein:increased expression:intervertebral disc RGD PMID:22835012 RGD:11561942 NCBI chr 2:38,857,235...38,858,955
Ensembl chr 2:38,857,299...38,858,505 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO RGD PMID:19916288 RGD:7207382 NCBI chr 1:94,167,507...94,177,357
Ensembl chr 1:94,167,219...94,176,767 		JBrowse link
G MMP13 matrix metallopeptidase 13 treatment ISO mRNA:increased expression:intervertebral disc
associated with Renal Insufficiency		 RGD PMID:19063844 PMID:20472983 PMID:20948465 RGD:10043178 RGD:2325859 RGD:8661231 NCBI chr 1:94,322,473...94,370,665
Ensembl chr 1:94,322,979...94,334,747 		JBrowse link
G MMP3 matrix metallopeptidase 3 treatment ISO mRNA:increased expression:intervertebral disc RGD PMID:20472983 PMID:20948465 RGD:2325859 RGD:8661231 NCBI chr 1:94,216,156...94,224,437
Ensembl chr 1:94,216,173...94,224,264 		JBrowse link
G NGF nerve growth factor ISO RGD PMID:20973063 RGD:5144150 NCBI chr20:18,361,795...18,413,987
Ensembl chr20:18,413,108...18,413,833 		JBrowse link
G NGFR nerve growth factor receptor ISO RGD PMID:20973063 RGD:5144150 NCBI chr16:69,894,000...69,914,209
Ensembl chr16:69,894,139...69,912,189 		JBrowse link
G PAPPA pappalysin 1 ISO protein:increased expression:vertebral disc: RGD PMID:18552658 RGD:10412724 NCBI chr12:23,182,856...23,427,092
Ensembl chr12:23,184,704...23,427,165 		JBrowse link
G POSTN periostin ISO protein:increased expression:tail intervertebral disc:
mRNA,protein:increased expression:nucleus pulposus:		 RGD PMID:23453657 RGD:10040995 NCBI chr 3:16,060,013...16,095,867
Ensembl chr 3:16,059,965...16,095,791 		JBrowse link
G SPARC secreted protein acidic and cysteine rich ISO CTD Direct Evidence: marker/mechanism CTD PMID:20714283 NCBI chr23:54,224,003...54,248,869
Ensembl chr23:54,222,838...54,238,006 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:21351055 NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34600870
Ehlers-Danlos syndrome kyphoscoliotic type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP1 aquaporin 1 (Colton blood group) ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr21:27,456,553...27,473,196
Ensembl chr21:27,456,259...27,470,728 		JBrowse link
G CRHR2 corticotropin releasing hormone receptor 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr21:27,703,637...27,738,873
Ensembl chr21:27,708,113...27,739,116 		JBrowse link
G FKBP14 FKBP prolyl isomerase 14 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22265013 PMID:24677762 More... NCBI chr21:28,352,196...28,367,910
Ensembl chr21:28,352,402...28,367,147 		JBrowse link
G GARS1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr21:27,750,532...27,791,143
Ensembl chr21:27,749,514...27,790,881 		JBrowse link
G GGCT gamma-glutamylcyclotransferase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr21:27,886,069...27,894,285
Ensembl chr21:27,886,133...27,894,349 		JBrowse link
G GHRHR growth hormone releasing hormone receptor ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr21:27,402,765...27,417,536
Ensembl chr21:27,404,886...27,417,521 		JBrowse link
G INMT indolethylamine N-methyltransferase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr21:27,635,727...27,707,463
Ensembl chr21:27,634,903...27,639,800 		JBrowse link
G MINDY4 MINDY lysine 48 deubiquitinase 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr21:27,473,251...27,621,772
Ensembl chr21:27,489,814...27,621,647 		JBrowse link
G MTURN maturin, neural progenitor differentiation regulator homolog ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr21:28,216,742...28,246,518
Ensembl chr21:28,219,327...28,246,191 		JBrowse link
G NOD1 nucleotide binding oligomerization domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr21:27,907,628...27,957,621
Ensembl chr21:27,926,710...27,957,619 		JBrowse link
G PLEKHA8 pleckstrin homology domain containing A8 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr21:28,262,714...28,350,580
Ensembl chr21:28,292,591...28,350,484 		JBrowse link
G ZNRF2 zinc and ring finger 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr21:27,930,382...28,097,754
Ensembl chr21:28,014,791...28,096,703 		JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCC DCC netrin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28250456 NCBI chr18:27,437,224...28,623,717
Ensembl chr18:27,442,489...28,212,697 		JBrowse link
G ROBO3 roundabout guidance receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:116,004,129...116,024,691
Ensembl chr 1:116,008,742...116,024,474 		JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ROBO3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis 1 OMIM
ClinVar		 PMID:15105459 PMID:16525029 PMID:16772357 PMID:18829051 PMID:19041479 More... NCBI chr 1:116,004,129...116,024,691
Ensembl chr 1:116,008,742...116,024,474 		JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCC DCC netrin 1 receptor ISO ClinVar Annotator: match by term: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis, 2 OMIM
ClinVar		 PMID:25741868 PMID:28250456 PMID:28492532 NCBI chr18:27,437,224...28,623,717
Ensembl chr18:27,442,489...28,212,697 		JBrowse link
hypochondroplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Hypochondroplasia OMIM
ClinVar		 PMID:1908846 PMID:4697848 PMID:7647778 PMID:7649548 PMID:7670477 More... NCBI chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392 		JBrowse link
idiopathic scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG6 adhesion G protein-coupled receptor G6 ISO MouseDO NCBI chr13:30,810,167...30,951,082
Ensembl chr13:30,809,634...30,950,767 		JBrowse link
G CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 ISO ClinVar Annotator: match by term: Idiopathic scoliosis ClinVar PMID:25741868 PMID:28492532 PMID:29240829 NCBI chr20:24,270,963...24,296,263
Ensembl chr20:24,270,952...24,296,647 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 3 ClinVar PMID:17436250 PMID:23883829 PMID:25741868 NCBI chr 8:56,654,939...56,782,803
Ensembl chr 8:56,657,826...56,785,804 		JBrowse link
G GREB1L GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1 ClinVar PMID:25741868 NCBI chr18:58,960,397...59,104,188
Ensembl chr18:58,963,914...59,103,993 		JBrowse link
G KIF7 kinesin family member 7 ISO ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1 ClinVar PMID:21552264 PMID:25741868 PMID:28492532 NCBI chr29:8,172,294...8,193,775
Ensembl chr29:8,170,883...8,191,323 		JBrowse link
G MAPK7 mitogen-activated protein kinase 7 ISO ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1 ClinVar PMID:28714182 NCBI chr16:17,962,827...17,969,027
Ensembl chr16:17,964,408...17,968,714 		JBrowse link
G MBTPS1 membrane bound transcription factor peptidase, site 1 ISO MouseDO NCBI chr 5:69,464,064...69,527,588
Ensembl chr 5:69,463,920...69,527,541 		JBrowse link
G PRMT5 protein arginine methyltransferase 5 ISO MouseDO NCBI chr29:23,288,458...23,297,746
Ensembl chr29:23,288,835...23,297,518 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO MouseDO NCBI chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637 		JBrowse link
G RUNX3 RUNX family transcription factor 3 ISO MouseDO NCBI chr20:107,769,244...107,802,154
Ensembl chr20:107,736,683...107,802,307 		JBrowse link
Intervertebral Disc Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASPN asporin susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr12:102,972,652...102,999,248
Ensembl chr12:102,972,541...102,999,368 		JBrowse link
G BDNF brain derived neurotrophic factor ISO mRNA:increased expression:intervertebral disc RGD PMID:37888810 RGD:405850252 NCBI chr 1:37,386,825...37,451,380
Ensembl chr 1:37,449,593...37,450,336 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO mRNA,protein:increased expression:neuron,macrophage: RGD PMID:24462503 RGD:8661788 NCBI chr22:7,795,192...7,801,242
Ensembl chr22:7,798,646...7,799,728 		JBrowse link
G CILP cartilage intermediate layer protein susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr26:18,367,950...18,384,235
Ensembl chr26:18,370,640...18,384,222 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Intervertebral disc disease | ClinVar Annotator: match by term: Lumbar disc herniation, susceptibility to ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:17999364 PMID:25741868 PMID:26377240 More... NCBI chr20:30,284,471...30,508,660
Ensembl chr20:30,284,447...30,508,658 		JBrowse link
G COL1A1 collagen type I alpha 1 chain no_association ISO DNA:insertion
DNA:polymorphism		 RGD PMID:15994869 PMID:18694864 RGD:5688295 RGD:5688297 NCBI chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930 		JBrowse link
G COL9A3 collagen type IX alpha 3 chain susceptibility ISO ClinVar Annotator: match by term: Intervertebral disc disease | ClinVar Annotator: match by term: Intervertebral disc disease, susceptibility to ClinVar
OMIM		 PMID:11308397 PMID:24273071 PMID:25741868 PMID:28492532 PMID:31090205 More... NCBI chr 2:1,385,108...1,411,960 JBrowse link
G GDNF glial cell derived neurotrophic factor ISO mRNA:increased expression:intervertebral disc RGD PMID:37888810 RGD:405850252 NCBI chr 4:36,662,033...36,691,761
Ensembl chr 4:36,665,009...36,684,257 		JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:dorsal root ganglion, neuron, cytoplasm (rat) RGD PMID:21243740 RGD:9068928 NCBI chr24:38,873,830...38,927,657
Ensembl chr24:38,873,861...38,928,288 		JBrowse link
G THBS2 thrombospondin 2 susceptibility ISO ClinVar Annotator: match by term: Lumbar disc herniation, susceptibility to ClinVar
OMIM		 PMID:18455130 NCBI chr13:97,033,791...97,066,274 JBrowse link
Intervertebral Disc Displacement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 disease_progression ISO RGD PMID:21590431 RGD:5509092 NCBI chr24:82,704,087...82,730,711
Ensembl chr24:82,704,068...82,727,698 		JBrowse link
G APOA4 apolipoprotein A4 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:16372267 RGD:5685665 NCBI chr 1:108,186,627...108,190,508
Ensembl chr 1:108,186,921...108,189,698 		JBrowse link
G BDNF brain derived neurotrophic factor ISO protein:increased expression:dorsal root ganglion: RGD PMID:14615047 RGD:8657329 NCBI chr 1:37,386,825...37,451,380
Ensembl chr 1:37,449,593...37,450,336 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17999364 NCBI chr20:30,284,471...30,508,660
Ensembl chr20:30,284,447...30,508,658 		JBrowse link
G CTSL cathepsin L ISO protein:increased expression:annulus fibrosus (rat) RGD PMID:15758467 RGD:2315595 NCBI chr12:98,347,770...98,353,426
Ensembl chr12:98,347,800...98,353,467 		JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 ISO protein:increased expression:spinal cord RGD PMID:21224760 RGD:4891907 NCBI chr15:136,757...153,316
Ensembl chr15:150,718...151,785 		JBrowse link
G GC GC vitamin D binding protein ISO protein:increased expression:cerebrospinal fluid RGD PMID:16868893 RGD:5509883 NCBI chr 7:20,254,604...20,298,384
Ensembl chr 7:20,253,879...20,298,265 		JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha severity ISO RGD PMID:33455530 RGD:407532702 NCBI chr24:38,873,830...38,927,657
Ensembl chr24:38,873,861...38,928,288 		JBrowse link
G HTR2A 5-hydroxytryptamine receptor 2A treatment ISO RGD PMID:25584948 RGD:401938625 NCBI chr 3:24,820,029...24,884,472
Ensembl chr 3:24,820,035...24,883,432 		JBrowse link
G IGF1 insulin like growth factor 1 ISO RGD PMID:21037532 RGD:8549460 NCBI chr11:97,624,498...97,708,730
Ensembl chr11:97,631,189...97,707,308 		JBrowse link
G IL1RL1 interleukin 1 receptor like 1 ISO protein:increased expression:spinal cord: RGD PMID:29329586 RGD:40400909 NCBI chr14:5,966,551...6,020,391
Ensembl chr14:6,005,061...6,020,265 		JBrowse link
G IL33 interleukin 33 ISO protein:increased expression:spinal cord: RGD PMID:29329586 RGD:40400909 NCBI chr12:73,235,585...73,283,665
Ensembl chr12:73,237,406...73,252,436 		JBrowse link
G KMT2D lysine methyltransferase 2D severity ISO RGD PMID:32599142 RGD:155598599 NCBI chr11:45,260,873...45,303,898
Ensembl chr11:45,263,408...45,302,423 		JBrowse link
G LOC103233058 fractalkine ISO mRNA, protein:increased expression:spinal cord RGD PMID:21224760 RGD:4891907 NCBI chr 5:43,310,711...43,323,533
Ensembl chr 5:43,310,753...43,323,529 		JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:24826482 RGD:10450584
G TNFRSF1B TNF receptor superfamily member 1B ISO human protein in rat model RGD PMID:21057386 RGD:5131270 NCBI chr20:119,590,621...119,633,562
Ensembl chr20:119,590,325...119,633,497 		JBrowse link
Kahrizi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SRD5A3 steroid 5 alpha-reductase 3 ISO ClinVar Annotator: match by term: Kahrizi syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, CATARACT, COLOBOMA, AND KYPHOSIS, AUTOSOMAL RECESSIVE OMIM
ClinVar		 PMID:18781183 PMID:20637498 PMID:20700148 PMID:20852264 PMID:22304929 More... NCBI chr 7:13,193,601...13,218,115
Ensembl chr 7:13,190,412...13,217,768 		JBrowse link
Kyphoscoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXA11 homeobox A11 ISO mRNA:decreased expression:verterbra RGD PMID:18327665 RGD:11354896 NCBI chr21:31,180,232...31,187,709
Ensembl chr21:31,183,682...31,186,010 		JBrowse link
G HOXC10 homeobox C10 ISO mRNA:decreased expression:verterbra RGD PMID:18327665 RGD:11354896 NCBI chr11:50,092,230...50,100,934
Ensembl chr11:50,095,810...50,100,940 		JBrowse link
G HOXD10 homeobox D10 ISO mRNA:decreased expression:verterbra RGD PMID:18327665 RGD:11354896 NCBI chr10:61,686,868...61,694,965
Ensembl chr10:61,691,797...61,694,415 		JBrowse link
G HOXD11 homeobox D11 ISO mRNA:decreased expression:verterbra RGD PMID:18327665 RGD:11354896 NCBI chr10:61,681,474...61,693,974
Ensembl chr10:61,682,400...61,684,168 		JBrowse link
kyphosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELP1 elongator acetyltransferase complex subunit 1 ISO RGD PMID:11097445 RGD:5129159 NCBI chr12:30,620,685...30,687,583
Ensembl chr12:30,620,278...30,687,405 		JBrowse link
G FKBP10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Kyphosis ClinVar PMID:20362275 PMID:20839288 PMID:21567934 PMID:22689593 PMID:22949511 More... NCBI chr16:64,438,352...64,448,261
Ensembl chr16:64,438,333...64,448,731 		JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11790802 NCBI chr 1:8,681,140...8,700,721
Ensembl chr 1:8,681,156...8,703,740 		JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20561897 NCBI chr25:3,350,798...3,405,040 JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15666309 NCBI chr20:119,824,380...119,865,866 JBrowse link
G SLC26A2 solute carrier family 26 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18925670 NCBI chr23:52,565,322...52,598,237
Ensembl chr23:52,565,409...52,592,657 		JBrowse link
G SLC39A13 solute carrier family 39 member 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18985159 NCBI chr 1:17,899,349...17,907,165
Ensembl chr 1:17,899,030...17,905,850 		JBrowse link
Lordosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAN aggrecan ISO RGD PMID:9192671 RGD:1300269 NCBI chr29:7,345,350...7,416,951 JBrowse link
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RIN2 Ras and Rab interactor 2 ISO ClinVar Annotator: match by term: MACS SYNDROME | ClinVar Annotator: match by term: Macrocephaly, alopecia, cutis laxa, and scoliosis | ClinVar Annotator: match by term: RIN2-related condition | ClinVar Annotator: match by term: TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS OMIM
ClinVar		 PMID:19631308 PMID:20424861 PMID:20954239 PMID:24449201 PMID:25741868 More... NCBI chr 2:48,768,647...49,020,208
Ensembl chr 2:48,905,779...49,021,368 		JBrowse link
parastremmatic dwarfism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Parastremmatic dwarfism OMIM
ClinVar		 PMID:4056805 PMID:6628444 PMID:8179305 PMID:14755468 PMID:17879966 More... NCBI chr11:105,020,972...105,072,660 JBrowse link
rigid spine muscular dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Congenital muscular dystrophy with rigid spine ClinVar PMID:25182138 PMID:27854218 NCBI chr25:66,700,448...66,703,325
Ensembl chr25:66,700,369...66,714,891 		JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO ClinVar Annotator: match by term: Rigid spine syndrome ClinVar PMID:25741868 NCBI chr 4:42,083,523...42,107,410
Ensembl chr 4:42,080,949...42,107,409 		JBrowse link
G LDLRAP1 low density lipoprotein receptor adaptor protein 1 ISO ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy ClinVar PMID:21131290 PMID:21670436 PMID:28492532 NCBI chr20:107,207,363...107,232,237
Ensembl chr20:107,207,334...107,229,210 		JBrowse link
G MAN1C1 mannosidase alpha class 1C member 1 ISO ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy ClinVar PMID:21131290 PMID:21670436 PMID:28492532 NCBI chr20:106,989,694...107,158,575
Ensembl chr20:106,987,360...107,158,437 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Multi-minicore disease and atypical periodic paralysis | ClinVar Annotator: match by term: Multiminicore/minicore/multicore disease ClinVar PMID:17033962 PMID:18414213 PMID:20080402 PMID:21674524 PMID:21911697 More... NCBI chr 6:33,080,443...33,234,478
Ensembl chr 6:33,080,758...33,213,788 		JBrowse link
G SELENON selenoprotein N ISO ClinVar Annotator: match by term: CONGENITAL MYOPATHY 3 WITH RIGID SPINE | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar Annotator: match by term: MYOPATHY, SEPN1-RELATED | ClinVar Annotator: match by term: SEPN1-related disorder OMIM
ClinVar		 PMID:1219264 PMID:7224095 PMID:9536098 PMID:9585610 PMID:11079538 More... NCBI chr20:106,953,286...106,971,249 JBrowse link
Scheuermann's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLEC3B C-type lectin domain family 3 member B ISO OMIM:181440 MouseDO NCBI chr22:6,501,082...6,510,878
Ensembl chr22:6,501,102...6,512,314 		JBrowse link
G NFIX nuclear factor I X ISO OMIM:181440 MouseDO NCBI chr 6:11,705,323...11,778,943
Ensembl chr 6:11,706,060...11,776,083 		JBrowse link
scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALOXE3 arachidonate epidermal lipoxygenase 3 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 NCBI chr16:7,478,775...7,500,931
Ensembl chr16:7,478,793...7,500,428 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 NCBI chr 8:56,654,939...56,782,803
Ensembl chr 8:56,657,826...56,785,804 		JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:15704180 PMID:16826520 PMID:22167768 PMID:25741868 PMID:28492532 More... NCBI chr10:118,558,688...118,566,449
Ensembl chr10:118,559,230...118,565,610 		JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Scoliosis ClinVar NCBI chr 5:3,415,548...3,570,030
Ensembl chr 5:3,415,412...3,540,943 		JBrowse link
G DLL3 delta like canonical Notch ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17849441 NCBI chr 6:34,102,433...34,114,558
Ensembl chr 6:34,103,854...34,114,103 		JBrowse link
G ELP1 elongator acetyltransferase complex subunit 1 ISO RGD PMID:11097445 RGD:5129159 NCBI chr12:30,620,685...30,687,583
Ensembl chr12:30,620,278...30,687,405 		JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Congenital scoliosis | ClinVar Annotator: match by term: Scoliosis ClinVar PMID:10464652 PMID:11700157 PMID:11933199 PMID:12203987 PMID:12203992 More... NCBI chr26:34,637,916...34,877,499
Ensembl chr26:34,638,838...34,879,217 		JBrowse link
G FBN2 fibrillin 2 ISO DNA:frameshift mutation, missense mutations:exon:multiple RGD PMID:24833718 RGD:12910484 NCBI chr23:31,204,652...31,476,677
Ensembl chr23:31,204,391...31,475,820 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO MouseDO NCBI chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:128,657,580...128,683,812
Ensembl chr  X:128,657,393...128,680,531 		JBrowse link
G FXR1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 NCBI chr15:8,420,789...8,486,681
Ensembl chr15:8,421,654...8,486,384 		JBrowse link
G GDF3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:19864492 PMID:25741868 PMID:28492532 NCBI chr11:7,727,818...7,733,514
Ensembl chr11:7,727,913...7,733,075 		JBrowse link
G GFAP glial fibrillary acidic protein ISO ClinVar Annotator: match by term: Scoliosis ClinVar NCBI chr16:61,489,090...61,499,672
Ensembl chr16:61,489,421...61,500,646 		JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 PMID:28492532 PMID:32333447 NCBI chr23:43,307,573...43,324,140
Ensembl chr23:43,307,415...43,323,767 		JBrowse link
G HES7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 NCBI chr16:7,502,976...7,509,506
Ensembl chr16:7,503,932...7,506,448 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:27,484,699...27,521,108
Ensembl chr 2:27,484,760...27,522,504 		JBrowse link
G KIF1B kinesin family member 1B ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 NCBI chr20:121,393,478...121,567,704
Ensembl chr20:121,395,836...121,546,803 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO protein:increased expression:intervertebral disc (rat) RGD PMID:21554726 RGD:7207288 NCBI chr 1:94,167,507...94,177,357
Ensembl chr 1:94,167,219...94,176,767 		JBrowse link
G MYF5 myogenic factor 5 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:10844060 PMID:29887215 NCBI chr11:76,189,122...76,193,830
Ensembl chr11:76,191,579...76,193,549 		JBrowse link
G NOTCH1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17849441 NCBI chr12:1,656,815...1,707,566
Ensembl chr12:1,656,918...1,709,585 		JBrowse link
G POC5 POC5 centriolar protein ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25642776 PMID:25741868 PMID:28492532 NCBI chr 4:69,999,522...70,035,860
Ensembl chr 4:69,999,904...70,035,799 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:11992261 PMID:15121796 PMID:17339163 PMID:17875892 PMID:18241070 More... NCBI chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637 		JBrowse link
G RAB5IF RAB5 interacting factor ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:24194475 PMID:35614220 NCBI chr 2:57,473,593...57,477,322
Ensembl chr 2:57,473,596...57,477,700 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:17483490 PMID:18253926 PMID:19191329 PMID:19645060 PMID:21062345 More... NCBI chr 6:33,080,443...33,234,478
Ensembl chr 6:33,080,758...33,213,788 		JBrowse link
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:20220177 PMID:20301641 PMID:21291453 PMID:22950825 PMID:23806086 More... NCBI chr23:51,615,754...51,677,650 JBrowse link
G SOX3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:115,608,059...115,610,248
Ensembl chr  X:115,608,810...115,610,150 		JBrowse link
G TBX6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25564734 PMID:25741868 PMID:28054739 PMID:28492532 PMID:31015262 More... NCBI chr 5:26,566,673...26,573,258
Ensembl chr 5:26,567,700...26,572,820 		JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227 NCBI chr25:63,110,626...63,150,602
Ensembl chr25:63,110,772...63,150,017 		JBrowse link
G TPH1 tryptophan hydroxylase 1 no_association ISO DNA:SNP:promoter: (rs10488682) (human)
DNA:SNPs:multiple		 RGD PMID:18794762 PMID:21192222 PMID:21308753 RGD:5686347 RGD:5686348 RGD:5686349 NCBI chr 1:46,921,682...46,947,906 JBrowse link
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EXT2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: Seizures, scoliosis, and macrocephaly syndrome OMIM
ClinVar		 PMID:9326317 PMID:10679937 PMID:10713884 PMID:10750558 PMID:11432960 More... NCBI chr 1:21,077,159...21,282,317
Ensembl chr 1:21,119,987...21,281,635 		JBrowse link
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC10A7 solute carrier family 10 member 7 ISO ClinVar Annotator: match by term: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis OMIM
ClinVar		 PMID:25741868 PMID:29878199 PMID:30082715 NCBI chr 7:92,798,344...93,052,737 JBrowse link
Spinal Curvatures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFT122 intraflagellar transport 122 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20493458 NCBI chr22:51,528,383...51,616,757
Ensembl chr22:51,528,254...51,616,682 		JBrowse link
spondylocarpotarsal synostosis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNB filamin B ISO ClinVar Annotator: match by term: Scoliosis, congenital with unilateral unsegmented bar | ClinVar Annotator: match by term: Spondylocarpotarsal synostosis syndrome OMIM
ClinVar		 PMID:14991055 PMID:18257094 PMID:18322662 PMID:18386804 PMID:20301736 More... NCBI chr22:19,304,822...19,468,037
Ensembl chr22:19,304,781...19,468,036 		JBrowse link
G MYH3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Scoliosis, congenital with unilateral unsegmented bar | ClinVar Annotator: match by term: Spondylocarpotarsal synostosis syndrome ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29805041 More... NCBI chr16:9,966,801...9,999,458
Ensembl chr16:9,966,922...9,994,402 		JBrowse link
spondylolysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC26A2 solute carrier family 26 member 2 ISO DNA:mutations:cds:c.2286A>T(p.D673V), c.1922A>G(p.H641R),g.18654T>C(human) RGD PMID:26077908 RGD:13208868 NCBI chr23:52,565,322...52,598,237
Ensembl chr23:52,565,409...52,592,657 		JBrowse link
spondylosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KL klotho susceptibility ISO RGD PMID:12110410 RGD:10403053 NCBI chr 3:11,755,015...11,799,537
Ensembl chr 3:11,755,016...11,797,596 		JBrowse link
Tsukahara Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZNF407 zinc finger protein 407 ISO ClinVar Annotator: match by term: Radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation ClinVar PMID:25741868 NCBI chr18:4,844,066...5,303,034
Ensembl chr18:4,844,050...5,269,118 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 15074
      musculoskeletal system disease 7877
        bone disease 3922
          bone structure disease 129
            Spinal Curvatures + 83
            bone deterioration disease + 46
            scoliosis + 69
            spondylolisthesis + 0
            spondylolysis + 1
            spondylosis + 2
Path 2
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 15074
      musculoskeletal system disease 7877
        connective tissue disease 5411
          bone disease 3922
            bone structure disease 129
              Spinal Curvatures + 83
              bone deterioration disease + 46
              scoliosis + 69
              spondylolisthesis + 0
              spondylolysis + 1
              spondylosis + 2
paths to the root