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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


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, osteoblast specific factor IAGP MouseDO NCBI chr 3:54,266,688...54,298,462
Ensembl chr 3:54,268,530...54,298,458 		JBrowse link
G Qrfpr pyroglutamylated RFamide peptide receptor IAGP MouseDO NCBI chr 3:36,233,575...36,276,462
Ensembl chr 3:36,233,573...36,276,462 		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 chr 6:122,582,362...122,587,046
Ensembl chr 6:122,582,362...122,587,046 		JBrowse link
G Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta ISO ClinVar Annotator: match by term: Bent Spine Syndrome ClinVar PMID:12707239 PMID:23861362 PMID:24793961 PMID:25467552 PMID:25741868 More... NCBI chr14:55,208,141...55,232,083
Ensembl chr14:55,208,141...55,232,083 		JBrowse link
G Polg polymerase (DNA directed), gamma ISO ClinVar Annotator: match by term: Bent Spine Syndrome ClinVar PMID:16621917 PMID:17452231 PMID:18546365 PMID:19189930 PMID:19578034 More... NCBI chr 7:79,095,979...79,117,659
Ensembl chr 7:79,095,979...79,116,110 		JBrowse link
G Rrm2b ribonucleotide reductase M2 B (TP53 inducible) ISO ClinVar Annotator: match by term: Bent Spine Syndrome ClinVar PMID:17486094 PMID:21378381 PMID:24741716 PMID:25741868 PMID:28492532 More... NCBI chr15:37,924,196...37,961,562
Ensembl chr15:37,924,196...37,961,562 		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 domain containing 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 chr 4:21,675,865...21,685,963
Ensembl chr 4:21,677,480...21,685,963 		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 chr 4:139,464,357...139,560,841
Ensembl chr 4:139,464,373...139,560,839 		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 chr 7:78,702,974...78,764,847
Ensembl chr 7:78,703,231...78,764,847 		JBrowse link
G Adamts4 ADAM metallopeptidase with thrombospondin type 1 motif 4 ISO RGD PMID:22394620 RGD:10043115 NCBI chr 1:171,077,698...171,089,836
Ensembl chr 1:171,077,990...171,088,206 		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:8661231, RGD:10043115 NCBI chr16:85,655,045...85,698,013
Ensembl chr16:85,653,061...85,698,716 		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 chr13:49,697,919...49,721,041
Ensembl chr13:49,697,919...49,721,041 		JBrowse link
G Atg7 autophagy related 7 ameliorates ISO RGD PMID:33372336 RGD:407571673 NCBI chr 6:114,620,075...114,837,565
Ensembl chr 6:114,620,058...114,837,575 		JBrowse link
G Becn1 beclin 1, autophagy related ISO protein:increased expression:intervertebral disc RGD PMID:22835012 RGD:11561942 NCBI chr11:101,179,084...101,193,112
Ensembl chr11:101,176,778...101,193,112 		JBrowse link
G Col10a1 collagen, type X, alpha 1 ISO RGD PMID:20948465 RGD:8661231 NCBI chr10:34,265,977...34,273,081
Ensembl chr10:34,265,977...34,273,081 		JBrowse link
G Col1a1 collagen, type I, alpha 1 ISO DNA:SNP: :rs2075555 (human) RGD PMID:19180518 RGD:5688293 NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868 		JBrowse link
G Col2a1 collagen, type II, alpha 1 treatment ISO mRNA:decreased expression:intervertebral disc (rat)
associated with Renal Insufficiency		 RGD PMID:20948465 PMID:24285589 PMID:19063844 RGD:8661231, RGD:11570539, RGD:10043178 NCBI chr15:97,873,483...97,902,525
Ensembl chr15:97,873,483...97,902,576 		JBrowse link
G Crk v-crk avian sarcoma virus CT10 oncogene homolog treatment ISO RGD PMID:23055810 RGD:11568070 NCBI chr11:75,570,020...75,599,254
Ensembl chr11:75,570,085...75,597,734 		JBrowse link
G Elavl1 ELAV like RNA binding protein 1 ISO associated with diabetes mellitus;protein:decreased expression:nucleus pulposus RGD PMID:33372336 PMID:33372336 RGD:407571673, RGD:407571673 NCBI chr 8:4,334,781...4,375,104
Ensembl chr 8:4,335,382...4,375,413 		JBrowse link
G Ercc1 excision repair cross-complementing rodent repair deficiency, complementation group 1 IMP associated with Progeria RGD PMID:20973062 RGD:13207419 NCBI chr 7:19,079,016...19,090,449
Ensembl chr 7:19,078,703...19,090,449 		JBrowse link
G Fos FBJ osteosarcoma oncogene treatment ISO RGD PMID:29208967 RGD:405650595 NCBI chr12:85,520,664...85,524,048
Ensembl chr12:85,520,664...85,524,047 		JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO RGD PMID:29393545 RGD:13792726 NCBI chr16:37,909,363...38,066,446
Ensembl chr16:37,909,363...38,066,446 		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 2:155,118,284...155,119,993
Ensembl chr 2:155,118,217...155,119,993 		JBrowse link
G Mmp13 matrix metallopeptidase 13 treatment ISO mRNA:increased expression:intervertebral disc
associated with Renal Insufficiency		 RGD PMID:20948465 PMID:19063844 PMID:20472983 RGD:8661231, RGD:10043178, RGD:2325859 NCBI chr 9:7,272,514...7,283,333
Ensembl chr 9:7,272,514...7,283,331 		JBrowse link
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) ISO RGD PMID:19916288 RGD:7207382 NCBI chr 9:7,464,141...7,476,870
Ensembl chr 9:7,464,141...7,476,857 		JBrowse link
G Mmp1b matrix metallopeptidase 1b (interstitial collagenase) ISO RGD PMID:19916288 RGD:7207382 NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047 		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 9:7,445,845...7,455,975
Ensembl chr 9:7,445,822...7,455,975 		JBrowse link
G Ngf nerve growth factor ISO RGD PMID:20973063 RGD:5144150 NCBI chr 3:102,377,235...102,428,329
Ensembl chr 3:102,377,235...102,428,329 		JBrowse link
G Ngfr nerve growth factor receptor (TNFR superfamily, member 16) ISO RGD PMID:20973063 RGD:5144150 NCBI chr11:95,459,644...95,478,524
Ensembl chr11:95,459,644...95,478,561 		JBrowse link
G Pappa pregnancy-associated plasma protein A ISO protein:increased expression:vertebral disc: RGD PMID:18552658 RGD:10412724 NCBI chr 4:65,041,993...65,276,776
Ensembl chr 4:65,042,411...65,275,746 		JBrowse link
G Postn periostin, osteoblast specific factor ISO protein:increased expression:tail intervertebral disc:
mRNA,protein:increased expression:nucleus pulposus:		 RGD PMID:23453657 PMID:23453657 RGD:10040995, RGD:10040995 NCBI chr 3:54,266,688...54,298,462
Ensembl chr 3:54,268,530...54,298,458 		JBrowse link
G Sparc secreted acidic cysteine rich glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:20714283 NCBI chr11:55,284,985...55,310,906
Ensembl chr11:55,285,326...55,314,009 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:21351055 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
G Timp1 tissue inhibitor of metalloproteinase 1 treatment ISO associated with Renal Insufficiency RGD PMID:19063844 RGD:10043178 NCBI chr  X:20,736,524...20,740,972
Ensembl chr  X:20,736,405...20,740,974 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34600870 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		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 Aqp1 aquaporin 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr 6:55,313,284...55,325,540
Ensembl chr 6:55,313,417...55,325,540 		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 chr 6:55,067,033...55,110,001
Ensembl chr 6:55,067,034...55,110,001 		JBrowse link
G Fkbp14 FK506 binding protein 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 chr 6:54,554,590...54,574,329
Ensembl chr 6:54,554,589...54,574,293 		JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr 6:55,014,986...55,056,489
Ensembl chr 6:55,014,992...55,056,485 		JBrowse link
G Ggct gamma-glutamyl cyclotransferase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr 6:54,962,080...54,969,947
Ensembl chr 6:54,959,565...54,969,935 		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 chr 6:55,353,204...55,365,515
Ensembl chr 6:55,353,280...55,365,515 		JBrowse link
G Inmt indolethylamine N-methyltransferase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr 6:55,147,612...55,151,975
Ensembl chr 6:55,147,611...55,152,028 		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 chr 6:55,180,337...55,297,208
Ensembl chr 6:55,180,368...55,297,207 		JBrowse link
G Mturn maturin, neural progenitor differentiation regulator homolog (Xenopus) ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr 6:54,658,609...54,680,840
Ensembl chr 6:54,658,609...54,680,836 		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 chr 6:54,900,927...54,949,655
Ensembl chr 6:54,900,934...54,949,597 		JBrowse link
G Plekha8 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr 6:54,571,883...54,622,808
Ensembl chr 6:54,572,096...54,622,824 		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 chr 6:54,793,901...54,867,209
Ensembl chr 6:54,793,901...54,870,485 		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 chr18:71,386,703...72,484,299
Ensembl chr18:71,386,705...72,484,140 		JBrowse link
G Robo3 roundabout guidance receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:37,327,341...37,344,730
Ensembl chr 9:37,326,965...37,344,542 		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 9:37,327,341...37,344,730
Ensembl chr 9:37,326,965...37,344,542 		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 chr18:71,386,703...72,484,299
Ensembl chr18:71,386,705...72,484,140 		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
IAGP		 ClinVar Annotator: match by term: Hypochondroplasia
OMIM:146000
CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:c.1988 A>C(p.K650T)(human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1908846 PMID:4697848 PMID:7647778 PMID:7649548 PMID:7670477 More... RGD:11568026 NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		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 IAGP MouseDO NCBI chr10:14,278,327...14,421,467
Ensembl chr10:14,278,327...14,421,403 		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 chr 3:108,298,164...108,323,416
Ensembl chr 3:108,298,167...108,323,383 		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 4:8,690,345...8,868,449
Ensembl chr 4:8,690,406...8,867,659 		JBrowse link
G Greb1l growth regulation by estrogen in breast cancer-like ISO ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1 ClinVar PMID:25741868 NCBI chr18:10,324,933...10,562,945
Ensembl chr18:10,325,177...10,562,940 		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 7:79,347,846...79,365,520
Ensembl chr 7:79,347,846...79,365,468 		JBrowse link
G Mapk7 mitogen-activated protein kinase 7 ISO ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1 ClinVar PMID:28714182 NCBI chr11:61,379,638...61,385,101
Ensembl chr11:61,379,638...61,385,232 		JBrowse link
G Mbtps1 membrane-bound transcription factor peptidase, site 1 IAGP MouseDO NCBI chr 8:120,234,890...120,285,603
Ensembl chr 8:120,234,895...120,285,474 		JBrowse link
G Prmt5 protein arginine N-methyltransferase 5 IAGP MouseDO NCBI chr14:54,744,639...54,754,927
Ensembl chr14:54,744,644...54,754,982 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 IAGP MouseDO NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460 		JBrowse link
G Runx3 runt related transcription factor 3 IAGP MouseDO NCBI chr 4:134,847,956...134,905,301
Ensembl chr 4:134,847,963...134,905,301 		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 CTD
OMIM		 NCBI chr13:49,697,919...49,721,041
Ensembl chr13:49,697,919...49,721,041 		JBrowse link
G Bdnf brain derived neurotrophic factor ISO mRNA:increased expression:intervertebral disc RGD PMID:37888810 RGD:405850252 NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO mRNA,protein:increased expression:neuron,macrophage: RGD PMID:24462503 RGD:8661788 NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594 		JBrowse link
G Cilp cartilage intermediate layer protein, nucleotide pyrophosphohydrolase susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr 9:65,172,462...65,187,896
Ensembl chr 9:65,172,462...65,187,887 		JBrowse link
G Col11a1 collagen, type XI, alpha 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Intervertebral disc disease | ClinVar Annotator: match by term: Lumbar disc herniation, susceptibility to		 CTD
OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:17999364 PMID:25741868 PMID:26377240 More... NCBI chr 3:113,823,933...114,014,405
Ensembl chr 3:113,824,189...114,014,367 		JBrowse link
G Col1a1 collagen, type I, alpha 1 no_association ISO DNA:insertion
DNA:polymorphism		 RGD PMID:18694864 PMID:15994869 RGD:5688295, RGD:5688297 NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868 		JBrowse link
G Col9a3 collagen, type IX, alpha 3 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Intervertebral disc disease | ClinVar Annotator: match by term: Intervertebral disc disease, susceptibility to		 CTD
OMIM
ClinVar		 PMID:11308397 PMID:24273071 PMID:25741868 PMID:28492532 PMID:31090205 More... NCBI chr 2:180,239,895...180,263,985
Ensembl chr 2:180,239,583...180,263,982 		JBrowse link
G Gdnf glial cell line derived neurotrophic factor ISO mRNA:increased expression:intervertebral disc RGD PMID:37888810 RGD:405850252 NCBI chr15:7,839,529...7,867,061
Ensembl chr15:7,840,327...7,867,056 		JBrowse link
G Hif1a hypoxia inducible factor 1, alpha subunit ISO protein:increased expression:dorsal root ganglion, neuron, cytoplasm (rat) RGD PMID:21243740 RGD:9068928 NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304 		JBrowse link
G Mir155 microRNA 155 treatment ISO
IDA		 miRNA:decreased expression:nucleus pulposus RGD PMID:27227700 PMID:27227700 RGD:24922221, RGD:24922221 NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092 		JBrowse link
G Thbs2 thrombospondin 2 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lumbar disc herniation, susceptibility to		 CTD
OMIM
ClinVar		 PMID:18455130 NCBI chr17:14,885,762...14,914,524
Ensembl chr17:14,885,762...14,914,497 		JBrowse link
Intervertebral Disc Displacement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 thymoma viral proto-oncogene 1 disease_progression ISO RGD PMID:21590431 RGD:5509092 NCBI chr12:112,620,260...112,641,266
Ensembl chr12:112,620,255...112,641,318 		JBrowse link
G Apoa4 apolipoprotein A-IV ISO protein:increased expression:cerebrospinal fluid RGD PMID:16372267 RGD:5685665 NCBI chr 9:46,152,142...46,154,756
Ensembl chr 9:46,151,994...46,154,757 		JBrowse link
G Bdnf brain derived neurotrophic factor ISO protein:increased expression:dorsal root ganglion: RGD PMID:14615047 RGD:8657329 NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352 		JBrowse link
G Col11a1 collagen, type XI, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17999364 NCBI chr 3:113,823,933...114,014,405
Ensembl chr 3:113,824,189...114,014,367 		JBrowse link
G Ctsl cathepsin L ISO protein:increased expression:annulus fibrosus (rat) RGD PMID:15758467 RGD:2315595 NCBI chr13:64,509,704...64,518,586
Ensembl chr13:64,507,151...64,518,704 		JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO mRNA, protein:increased expression:spinal cord RGD PMID:21224760 RGD:4891907 NCBI chr 8:95,498,808...95,509,055
Ensembl chr 8:95,498,637...95,509,055 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO protein:increased expression:spinal cord RGD PMID:21224760 RGD:4891907 NCBI chr 9:119,877,749...119,897,362
Ensembl chr 9:119,877,749...119,898,945 		JBrowse link
G Gc vitamin D binding protein ISO protein:increased expression:cerebrospinal fluid RGD PMID:16868893 RGD:5509883 NCBI chr 5:89,565,370...89,605,757
Ensembl chr 5:89,565,381...89,605,757 		JBrowse link
G Hif1a hypoxia inducible factor 1, alpha subunit severity ISO RGD PMID:33455530 RGD:407532702 NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304 		JBrowse link
G Htr2a 5-hydroxytryptamine (serotonin) receptor 2A treatment ISO RGD PMID:25584948 RGD:401938625 NCBI chr14:74,878,314...74,944,299
Ensembl chr14:74,878,280...74,946,934 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO RGD PMID:21037532 RGD:8549460 NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904 		JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 ISO protein:increased expression:spinal cord: RGD PMID:29329586 RGD:40400909 NCBI chr 1:40,444,105...40,504,575
Ensembl chr 1:40,468,730...40,504,575 		JBrowse link
G Il33 interleukin 33 ISO protein:increased expression:spinal cord: RGD PMID:29329586 RGD:40400909 NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118 		JBrowse link
G Kmt2d lysine (K)-specific methyltransferase 2D severity ISO RGD PMID:32599142 RGD:155598599 NCBI chr15:98,729,550...98,771,958
Ensembl chr15:98,729,550...98,769,085 		JBrowse link
G Mir223 microRNA 223 disease_progression ISO RGD PMID:28460630 RGD:25823200 NCBI chr  X:95,286,423...95,286,532
Ensembl chr  X:95,286,423...95,286,532 		JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:24826482 RGD:10450584 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Tnfrsf1b tumor necrosis factor receptor superfamily, member 1b ISO human protein in rat model RGD PMID:21057386 RGD:5131270 NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440 		JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kahrizi syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, CATARACT, COLOBOMA, AND KYPHOSIS, AUTOSOMAL RECESSIVE		 OMIM
CTD
ClinVar		 PMID:18781183 PMID:20637498 PMID:20700148 PMID:20852264 PMID:22304929 More... NCBI chr 5:76,285,296...76,303,350
Ensembl chr 5:76,288,118...76,303,351 		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 chr 6:52,219,086...52,222,784
Ensembl chr 6:52,219,086...52,222,790 		JBrowse link
G Hoxc10 homeobox C10 ISO mRNA:decreased expression:verterbra RGD PMID:18327665 RGD:11354896 NCBI chr15:102,875,231...102,880,333
Ensembl chr15:102,875,231...102,880,328 		JBrowse link
G Hoxd10 homeobox D10 ISO mRNA:decreased expression:verterbra RGD PMID:18327665 RGD:11354896 NCBI chr 2:74,514,617...74,525,450
Ensembl chr 2:74,522,268...74,525,449 		JBrowse link
G Hoxd11 homeobox D11 ISO mRNA:decreased expression:verterbra RGD PMID:18327665 RGD:11354896 NCBI chr 2:74,509,902...74,517,360
Ensembl chr 2:74,509,901...74,517,360 		JBrowse link
kyphosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp1 elongator complex protein 1 ISO RGD PMID:11097445 RGD:5129159 NCBI chr 4:56,746,547...56,802,565
Ensembl chr 4:56,749,680...56,802,331 		JBrowse link
G Fkbp10 FK506 binding protein 10 ISO ClinVar Annotator: match by term: Kyphosis ClinVar PMID:20362275 PMID:20839288 PMID:21567934 PMID:22689593 PMID:22949511 More... NCBI chr11:100,306,520...100,315,666
Ensembl chr11:100,306,523...100,315,650 		JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11790802 NCBI chr19:5,790,928...5,808,564
Ensembl chr19:5,790,932...5,808,560 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase family, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20561897 NCBI chr 1:180,396,456...180,428,564
Ensembl chr 1:180,396,489...180,428,819 		JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15666309 NCBI chr 4:147,994,210...148,021,233
Ensembl chr 4:147,994,210...148,021,224 		JBrowse link
G Slc26a2 solute carrier family 26 (sulfate transporter), member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18925670 NCBI chr18:61,329,926...61,344,668
Ensembl chr18:61,325,991...61,344,684 		JBrowse link
G Slc39a13 solute carrier family 39 (metal ion transporter), member 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18985159 NCBI chr 2:90,892,136...90,900,754
Ensembl chr 2:90,892,136...90,900,762 		JBrowse link
Lordosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acan aggrecan IMP RGD PMID:9192671 RGD:1300269 NCBI chr 7:78,702,974...78,764,847
Ensembl chr 7:78,703,231...78,764,847 		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 CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar		 PMID:19631308 PMID:20424861 PMID:20954239 PMID:24449201 PMID:25741868 More... NCBI chr 2:145,613,647...145,729,536
Ensembl chr 2:145,517,135...145,729,536 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4056805 PMID:6628444 PMID:8179305 PMID:14755468 PMID:17879966 More... NCBI chr 5:114,760,213...114,796,497
Ensembl chr 5:114,760,213...114,796,482 		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 chr 8:124,618,497...124,621,514
Ensembl chr 8:124,618,508...124,621,490 		JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 ISO ClinVar Annotator: match by term: Rigid spine syndrome ClinVar PMID:25741868 NCBI chr13:120,151,887...120,169,796
Ensembl chr13:120,151,915...120,169,796 		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 chr 4:134,468,865...134,495,342
Ensembl chr 4:134,468,865...134,495,335 		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 chr 4:134,289,001...134,432,987
Ensembl chr 4:134,289,001...134,431,601 		JBrowse link
G Ryr1 ryanodine receptor 1, skeletal muscle 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 7:28,702,765...28,824,599
Ensembl chr 7:28,702,769...28,824,604 		JBrowse link
G Selenon selenoprotein N ISO
IAGP		 DNA:frameshift mutations, missense mutations, nonsense mutation:cds:multiple (human)
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
CTD Direct Evidence: marker/mechanism
OMIM:602771		 ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:1219264 PMID:7224095 PMID:9536098 PMID:9585610 PMID:11079538 More... RGD:1599352 NCBI chr 4:134,265,203...134,279,477
Ensembl chr 4:134,265,203...134,279,477 		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 IAGP OMIM:181440 MouseDO NCBI chr 9:122,980,011...122,986,497
Ensembl chr 9:122,980,011...122,986,497 		JBrowse link
G Nfix nuclear factor I/X IAGP OMIM:181440 MouseDO NCBI chr 8:85,431,341...85,527,086
Ensembl chr 8:85,426,505...85,526,973 		JBrowse link
scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 NCBI chr11:69,016,243...69,039,941
Ensembl chr11:69,016,722...69,039,941 		JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 NCBI chr 4:8,690,345...8,868,449
Ensembl chr 4:8,690,406...8,867,659 		JBrowse link
G Chrng cholinergic receptor, nicotinic, gamma polypeptide ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:15704180 PMID:16826520 PMID:22167768 PMID:25741868 PMID:28492532 More... NCBI chr 1:87,133,533...87,139,365
Ensembl chr 1:87,132,379...87,140,416 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Scoliosis ClinVar NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861 		JBrowse link
G Dll3 delta like canonical Notch ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17849441 NCBI chr 7:27,992,980...28,001,210
Ensembl chr 7:27,992,978...28,001,663 		JBrowse link
G Elp1 elongator complex protein 1 ISO RGD PMID:11097445 RGD:5129159 NCBI chr 4:56,746,547...56,802,565
Ensembl chr 4:56,749,680...56,802,331 		JBrowse link
G Fbn1 fibrillin 1 ISO DNA:missense mutations:exon:multiple
ClinVar Annotator: match by term: Congenital scoliosis | ClinVar Annotator: match by term: Scoliosis		 ClinVar
RGD		 PMID:10464652 PMID:11700157 PMID:11933199 PMID:12203987 PMID:12203992 More... RGD:12910484 NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913 		JBrowse link
G Fbn2 fibrillin 2 ISO DNA:frameshift mutation, missense mutations:exon:multiple RGD PMID:24833718 RGD:12910484 NCBI chr18:58,141,689...58,343,200
Ensembl chr18:58,141,695...58,343,559 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 IAGP MouseDO NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
G Flna filamin, alpha ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:73,267,067...73,293,787
Ensembl chr  X:73,267,067...73,293,426 		JBrowse link
G Fxr1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 NCBI chr 3:34,074,133...34,124,129
Ensembl chr 3:34,074,092...34,124,471 		JBrowse link
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:19864492 PMID:25741868 PMID:28492532 NCBI chr 6:122,582,362...122,587,046
Ensembl chr 6:122,582,362...122,587,046 		JBrowse link
G Gfap glial fibrillary acidic protein ISO ClinVar Annotator: match by term: Scoliosis ClinVar NCBI chr11:102,778,162...102,791,368
Ensembl chr11:102,778,162...102,791,738 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 PMID:28492532 PMID:32333447 NCBI chr18:36,899,581...36,916,258
Ensembl chr18:36,899,581...36,916,258 		JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 NCBI chr11:69,009,778...69,014,880
Ensembl chr11:69,011,230...69,014,881 		JBrowse link
G Jag1 jagged 1 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564 		JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 NCBI chr 4:149,260,776...149,392,762
Ensembl chr 4:149,260,776...149,392,150 		JBrowse link
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) ISO protein:increased expression:intervertebral disc (rat) RGD PMID:21554726 RGD:7207288 NCBI chr 9:7,464,141...7,476,870
Ensembl chr 9:7,464,141...7,476,857 		JBrowse link
G Mmp1b matrix metallopeptidase 1b (interstitial collagenase) ISO protein:increased expression:intervertebral disc (rat) RGD PMID:21554726 RGD:7207288 NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047 		JBrowse link
G Myf5 myogenic factor 5 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:10844060 PMID:29887215 NCBI chr10:107,318,769...107,322,787
Ensembl chr10:107,318,769...107,321,995 		JBrowse link
G Notch1 notch 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17849441 NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675 		JBrowse link
G Poc5 POC5 centriolar protein ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25642776 PMID:25741868 PMID:28492532 NCBI chr13:96,524,767...96,553,719
Ensembl chr13:96,524,802...96,554,245 		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 chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460 		JBrowse link
G Rab5if RAB5 interacting factor ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:24194475 PMID:35614220 NCBI chr 2:156,705,042...156,715,483
Ensembl chr 2:156,705,048...156,715,483 		JBrowse link
G Ryr1 ryanodine receptor 1, skeletal muscle ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:17483490 PMID:18253926 PMID:19191329 PMID:19645060 PMID:21062345 More... NCBI chr 7:28,702,765...28,824,599
Ensembl chr 7:28,702,769...28,824,604 		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 chr18:62,086,002...62,148,790
Ensembl chr18:62,086,146...62,157,473 		JBrowse link
G Sox3 SRY (sex determining region Y)-box 3 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:59,934,972...59,937,045
Ensembl chr  X:59,934,972...59,937,036 		JBrowse link
G Tbx6 T-box 6 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25564734 PMID:25741868 PMID:28054739 PMID:28492532 PMID:31015262 More... NCBI chr 7:126,380,655...126,384,720
Ensembl chr 7:126,380,655...126,384,732 		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 chr 1:167,136,239...167,161,547
Ensembl chr 1:167,135,947...167,161,547 		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 7:46,294,065...46,321,961
Ensembl chr 7:46,294,065...46,321,961 		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 2:93,525,978...93,652,913
Ensembl chr 2:93,491,373...93,652,913 		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 (sodium/bile acid cotransporter family), 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 8:79,235,957...79,460,641
Ensembl chr 8:79,235,975...79,460,632 		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 6:115,830,340...115,903,660
Ensembl chr 6:115,830,431...115,903,660 		JBrowse link
spondylocarpotarsal synostosis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin, beta ISO
IAGP
IMP		 ClinVar Annotator: match by term: Scoliosis, congenital with unilateral unsegmented bar | ClinVar Annotator: match by term: Spondylocarpotarsal synostosis syndrome
OMIM:272460
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:14991055 PMID:18257094 PMID:18322662 PMID:18386804 PMID:20301736 More... RGD:12791028 NCBI chr14:14,518,185...14,651,852
Ensembl chr14:14,518,185...14,651,816 		JBrowse link
G Myh3 myosin, heavy polypeptide 3, skeletal muscle, embryonic 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 chr11:66,969,101...66,993,117
Ensembl chr11:66,969,126...66,993,112 		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 (sulfate transporter), 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 chr18:61,329,926...61,344,668
Ensembl chr18:61,325,991...61,344,684 		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 5:150,876,072...150,917,282
Ensembl chr 5:150,876,072...150,917,282 		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 chr18:84,225,826...84,612,815
Ensembl chr18:84,146,152...84,607,850 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16225
    disease of anatomical entity 15844
      musculoskeletal system disease 8154
        bone disease 4042
          bone structure disease 133
            Spinal Curvatures + 84
            bone deterioration disease + 50
            scoliosis + 70
            spondylolisthesis + 0
            spondylolysis + 1
            spondylosis + 2
Path 2
Term Annotations click to browse term
  disease 16225
    disease of anatomical entity 15844
      musculoskeletal system disease 8154
        connective tissue disease 5596
          bone disease 4042
            bone structure disease 133
              Spinal Curvatures + 84
              bone deterioration disease + 50
              scoliosis + 70
              spondylolisthesis + 0
              spondylolysis + 1
              spondylosis + 2
paths to the root