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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)
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
bone structure disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Postn periostin ISS MouseDO NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099
JBrowse link
G Qrfpr pyroglutamylated RFamide peptide receptor ISS MouseDO NCBI chr 2:119,053,511...119,096,792
Ensembl chr 2:119,053,511...119,096,792
JBrowse link
Camptocormia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Bent Spine Syndrome ClinVar PMID:12707239 PMID:23861362 PMID:24033266 PMID:24793961 PMID:25467552 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Camptocormism ClinVar PMID:16621917 PMID:17452231 PMID:18546365 PMID:19189930 PMID:19578034 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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 NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
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 IDA
IEP
associated with Renal Insufficiency
mRNA:decreased expression:intervertebral disk
RGD PMID:19063844 PMID:24285589 RGD:10043178, RGD:11570539 NCBI chr 1:132,981,034...133,044,416
Ensembl chr 1:132,981,582...133,043,627
JBrowse link
G Adamts4 ADAM metallopeptidase with thrombospondin type 1 motif, 4 IEP RGD PMID:22394620 RGD:10043115 NCBI chr13:83,670,556...83,680,045
Ensembl chr13:83,670,183...83,680,065
JBrowse link
G Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 IEP mRNA:increased expression:intervertebral disk of cervical vertebra RGD PMID:20948465 PMID:22394620 RGD:8661231, RGD:10043115 NCBI chr11:25,000,627...25,047,205
Ensembl chr11:25,000,637...25,047,205
JBrowse link
G Aspn asporin severity
susceptibility
ISO mRNA:increased expression:intervertebral disk:
DNA:repeats:exon:
RGD PMID:19327154 PMID:18304494 RGD:9684961, RGD:9684970 NCBI chr17:15,079,910...15,104,369
Ensembl chr17:15,080,639...15,104,041
JBrowse link
G Becn1 beclin 1 IEP protein:increased expression:intervertebral disc RGD PMID:22835012 RGD:11561942 NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
JBrowse link
G Col10a1 collagen type X alpha 1 chain IEP RGD PMID:20948465 RGD:8661231 NCBI chr20:38,183,103...38,189,488
Ensembl chr20:38,182,494...38,189,494
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO DNA:SNP: :rs2075555 (human) RGD PMID:19180518 RGD:5688293 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
G Col2a1 collagen type II alpha 1 chain treatment IEP
IDA
mRNA:decreased expression:intervertebral disc (rat)
associated with Renal Insufficiency
RGD PMID:20948465 PMID:24285589 PMID:19063844 RGD:8661231, RGD:11570539, RGD:10043178 NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
JBrowse link
G Crk CRK proto-oncogene, adaptor protein treatment IEP RGD PMID:23055810 RGD:11568070 NCBI chr10:60,530,469...60,556,703
Ensembl chr10:60,530,464...60,553,406
JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO associated with Progeria RGD PMID:20973062 RGD:13207419 NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO RGD PMID:29393545 RGD:13792726 NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646
JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha IEP protein:increased expression:intervertebral disc RGD PMID:22835012 RGD:11561942 NCBI chr 3:143,783,024...143,784,670
Ensembl chr 3:143,783,024...143,784,670
JBrowse link
G Mmp1 matrix metallopeptidase 1 IDA RGD PMID:19916288 RGD:7207382 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Mmp13 matrix metallopeptidase 13 treatment IEP
IDA
mRNA:increased expression:intervertebral disc
associated with Renal Insufficiency
RGD PMID:20948465 PMID:19063844 PMID:20472983 RGD:8661231, RGD:10043178, RGD:2325859 NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
JBrowse link
G Mmp3 matrix metallopeptidase 3 treatment IEP mRNA:increased expression:intervertebral disc RGD PMID:20472983 PMID:20948465 RGD:2325859, RGD:8661231 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
JBrowse link
G Ngf nerve growth factor IMP RGD PMID:20973063 RGD:5144150 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
JBrowse link
G Ngfr nerve growth factor receptor IMP RGD PMID:20973063 RGD:5144150 NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
JBrowse link
G Pappa1 pappalysin 1 ISO protein:increased expression:vertebral disc: RGD PMID:18552658 RGD:10412724 NCBI chr 5:78,497,660...78,735,873
Ensembl chr 5:78,498,300...78,730,666
JBrowse link
G Postn periostin IEP
ISO
protein:increased expression:tail intervertebral disc:
mRNA,protein:increased expression:nucleus pulposus:
RGD PMID:23453657 PMID:23453657 RGD:10040995, RGD:10040995 NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099
JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO CTD Direct Evidence: marker/mechanism CTD PMID:20714283 NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:21351055 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 treatment IDA associated with Renal Insufficiency RGD PMID:19063844 RGD:10043178 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664
JBrowse link
Ehlers-Danlos syndrome kyphoscoliotic type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 OMIM:614557
OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22265013 PMID:24677762 More... NCBI chr 4:83,705,531...83,721,515
Ensembl chr 4:83,705,652...83,721,528
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 chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740
JBrowse link
G Robo3 roundabout guidance receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315
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 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315
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
ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis, 2
ClinVar
OMIM
PMID:25741868 PMID:28250456 PMID:28492532 NCBI chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740
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
ClinVar Annotator: match by OMIM:146000
DNA:mutation:cds:c.1988 A>C(p.K650T)(human)
OMIM
ClinVar
PMID:1908846 PMID:4697848 PMID:7670477 PMID:7773297 PMID:8078586 More... RGD:11568026 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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 CTD Direct Evidence: marker/mechanism CTD PMID:23666238 NCBI chr 1:8,812,889...8,954,239
Ensembl chr 1:8,812,904...8,954,123
JBrowse link
G Celsr2 cadherin, EGF LAG seven-pass G-type receptor 2 ISO ClinVar Annotator: match by term: Idiopathic scoliosis ClinVar PMID:29240829 NCBI chr 2:196,029,206...196,053,848
Ensembl chr 2:196,029,434...196,053,845
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Scoliosis, idiopathic 3 ClinVar PMID:17436250 PMID:23883829 PMID:25741868 NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
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 chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
JBrowse link
G Mapk7 mitogen-activated protein kinase 7 ISO ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1 ClinVar PMID:28714182 NCBI chr10:46,170,264...46,176,262
Ensembl chr10:46,170,167...46,176,267
JBrowse link
Intervertebral Disc Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspn asporin ISO OMIM NCBI chr17:15,079,910...15,104,369
Ensembl chr17:15,080,639...15,104,041
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 IEP mRNA,protein:increased expression:neuron,macrophage: RGD PMID:24462503 RGD:8661788 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
JBrowse link
G Cilp cartilage intermediate layer protein ISO OMIM NCBI chr 8:65,777,281...65,792,251
Ensembl chr 8:65,777,281...65,792,251
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
OMIM
ClinVar
PMID:7695699 PMID:8218237 PMID:10612821 PMID:17999364 PMID:19344236 More... NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853
JBrowse link
G Col1a1 collagen type I alpha 1 chain no_association ISO DNA:insertion
DNA:polymorphism
RGD PMID:18694864 PMID:15994869 RGD:5688295, RGD:5688297 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
G Col9a3 collagen type IX alpha 3 chain ISO ClinVar Annotator: match by term: Intervertebral disc disease, susceptibility to OMIM
ClinVar
PMID:11308397 PMID:25741868 PMID:28492532 NCBI chr 3:167,711,776...167,734,468
Ensembl chr 3:167,711,840...167,734,465
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha IEP protein:increased expression:dorsal root ganglion, neuron, cytoplasm (rat) RGD PMID:21243740 RGD:9068928 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
JBrowse link
G Mir155 microRNA 155 treatment ISO miRNA:decreased expression:nucleus pulposus RGD PMID:27227700 PMID:27227700 RGD:24922221, RGD:24922221 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
JBrowse link
G Thbs2 thrombospondin 2 ISO ClinVar Annotator: match by synonym: Lumbar disc herniation, susceptibility to OMIM
ClinVar
PMID:18455130 NCBI chr 1:55,670,394...55,699,789
Ensembl chr 1:55,670,394...55,699,789
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 OMIM:612713
OMIM
ClinVar
PMID:18781183 PMID:20700148 PMID:20852264 PMID:22304929 PMID:25326635 More... NCBI chr14:32,046,415...32,060,796
Ensembl chr14:32,046,408...32,060,747
JBrowse link
Kyphoscoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa11 homeobox A11 IEP mRNA:decreased expression:verterbra RGD PMID:18327665 RGD:11354896 NCBI chr 4:81,342,527...81,346,189
Ensembl chr 4:81,342,528...81,346,232
JBrowse link
G Hoxc10 homeo box C10 IEP mRNA:decreased expression:verterbra RGD PMID:18327665 RGD:11354896 NCBI chr 7:134,103,741...134,108,966
Ensembl chr 7:134,103,643...134,108,966
JBrowse link
G Hoxd10 homeo box D10 IEP mRNA:decreased expression:verterbra RGD PMID:18327665 RGD:11354896 NCBI chr 3:59,594,516...59,597,725
Ensembl chr 3:59,594,516...59,597,725
JBrowse link
G Hoxd11 homeobox D11 IEP mRNA:decreased expression:verterbra RGD PMID:18327665 RGD:11354896 NCBI chr 3:59,584,840...59,587,257 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 chr 5:71,453,338...71,505,833
Ensembl chr 5:71,456,310...71,505,762
JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11790802 NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20561897 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15666309 NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620
JBrowse link
G Slc26a2 solute carrier family 26 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18925670 NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
JBrowse link
G Slc39a13 solute carrier family 39 member 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18985159 NCBI chr 3:77,039,411...77,047,536
Ensembl chr 3:77,037,565...77,049,226
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 chr 1:132,981,034...133,044,416
Ensembl chr 1:132,981,582...133,043,627
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: Macrocephaly, alopecia, cutis laxa, and scoliosis
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:613075
OMIM
ClinVar
PMID:19631308 PMID:20424861 PMID:20954239 PMID:24449201 PMID:25741868 More... NCBI chr 3:133,086,858...133,303,604
Ensembl chr 3:133,086,749...133,303,604
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:8179305 PMID:14755468 PMID:19232556 PMID:20037586 More... NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
JBrowse link
Progressive Congenital Myopathy with Scoliosis 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
ClinVar Annotator: match by term: Myopathy, congenital, progressive, with scoliosis
ClinVar
OMIM
PMID:25741868 PMID:31092906 PMID:32214227 NCBI chr 5:151,996,368...152,098,023
Ensembl chr 5:151,999,092...152,097,979
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:27854218 NCBI chr19:51,883,713...51,886,725
Ensembl chr19:51,883,715...51,886,742
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Multiminicore/minicore/multicore disease
ClinVar Annotator: match by term: Multi-minicore disease and atypical periodic paralysis
ClinVar PMID:17033962 PMID:18414213 PMID:20080402 PMID:20583297 PMID:21674524 More... NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
JBrowse link
G Selenon selenoprotein N ISO DNA:frameshift mutations, missense mutations, nonsense mutation:cds:multiple (human)
ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy
ClinVar Annotator: match by OMIM:602771
ClinVar
OMIM
PMID:1219264 PMID:7224095 PMID:9536098 PMID:11079538 PMID:11528383 More... RGD:1599352 NCBI chr 5:146,748,638...146,764,656
Ensembl chr 5:146,748,652...146,763,059
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Classic multiminicore myopathy ClinVar PMID:25741868 NCBI chr 3:61,652,432...61,924,912 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 ISS OMIM:181440 MouseDO NCBI chr 8:122,810,091...122,817,039
Ensembl chr 8:122,810,149...122,815,835
JBrowse link
G Nfix nuclear factor I X ISS OMIM:181440 MouseDO NCBI chr19:23,355,388...23,450,360
Ensembl chr19:23,355,498...23,448,265
JBrowse link
scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
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 chr 9:87,878,085...87,884,193 JBrowse link
G Dll3 delta like canonical Notch ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17849441 NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750
JBrowse link
G Elp1 elongator acetyltransferase complex subunit 1 ISO RGD PMID:11097445 RGD:5129159 NCBI chr 5:71,453,338...71,505,833
Ensembl chr 5:71,456,310...71,505,762
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Scoliosis
ClinVar Annotator: match by term: Congenital scoliosis
DNA:missense mutations:exon:multiple
ClinVar PMID:10464652 PMID:11700157 PMID:11933199 PMID:12203987 PMID:12203992 More... RGD:12910484 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
JBrowse link
G Fbn2 fibrillin 2 ISO DNA:frameshift mutation, missense mutations:exon:multiple RGD PMID:24833718 RGD:12910484 NCBI chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISS MouseDO NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:28492532 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:19864492 PMID:25741868 NCBI chr 4:155,831,572...155,835,953
Ensembl chr 4:155,830,909...155,835,937
JBrowse link
G Gfap glial fibrillary acidic protein ISO ClinVar Annotator: match by term: Scoliosis ClinVar NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589
JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Scoliosis ClinVar NCBI chr 3:124,406,794...124,442,220
Ensembl chr 3:124,406,794...124,442,209
JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778
JBrowse link
G Mmp1 matrix metallopeptidase 1 IEP protein:increased expression:intervertebral disc (rat) RGD PMID:21554726 RGD:7207288 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Myf5 myogenic factor 5 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:10844060 PMID:29887215 NCBI chr 7:42,802,946...42,806,177
Ensembl chr 7:42,802,946...42,806,177
JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17849441 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
JBrowse link
G Poc5 POC5 centriolar protein ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 NCBI chr 2:27,719,745...27,748,805
Ensembl chr 2:27,719,762...27,748,805
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:15121796 PMID:17339163 PMID:17875892 PMID:18241070 PMID:24033266 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:20220177 PMID:21291453 PMID:25741868 PMID:26392352 PMID:26794302 More... NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083
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 NCBI chr 1:181,387,851...181,392,762
Ensembl chr 1:181,388,684...181,392,593
JBrowse link
G Tph1 tryptophan hydroxylase 1 no_association ISO DNA:SNP:promoter: (rs10488682) (human)
DNA:SNPs:multiple
RGD PMID:18794762 PMID:21308753 PMID:21192222 RGD:5686347, RGD:5686349, RGD:5686348 NCBI chr 1:97,157,375...97,178,415
Ensembl chr 1:97,157,409...97,178,344
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 ClinVar
OMIM
PMID:9326317 PMID:10713884 PMID:10750558 PMID:11432960 PMID:16283885 More... NCBI chr 3:79,665,415...79,798,077
Ensembl chr 3:79,665,415...79,798,059
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:29878199 PMID:30082715 NCBI chr19:29,183,143...29,407,470
Ensembl chr19:29,183,155...29,407,464
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 chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458
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: Spondylocarpotarsal synostosis syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:272460
OMIM
ClinVar
CTD
PMID:14991055 PMID:18257094 PMID:18322662 PMID:18386804 PMID:20301736 More... RGD:12791028 NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006
JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Spondylocarpotarsal synostosis syndrome ClinVar PMID:25741868 PMID:29805041 NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
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 chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
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 chr12:490,402...531,417
Ensembl chr12:490,399...530,080
JBrowse link
Tsukahara Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp407 zinc finger protein 407 ISO ClinVar Annotator: match by term: Radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation ClinVar PMID:25741868 NCBI chr18:77,571,140...77,970,282
Ensembl chr18:77,571,204...77,974,129
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      musculoskeletal system disease 6416
        bone disease 3106
          spinal disease 925
            bone structure disease 85
              Spinal Curvatures + 56
              bone deterioration disease + 29
              scoliosis + 43
              spondylolisthesis + 0
              spondylolysis + 1
              spondylosis + 2
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      musculoskeletal system disease 6416
        connective tissue disease 4420
          bone disease 3106
            spinal disease 925
              bone structure disease 85
                Spinal Curvatures + 56
                bone deterioration disease + 29
                scoliosis + 43
                spondylolisthesis + 0
                spondylolysis + 1
                spondylosis + 2
paths to the root