Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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
go back to main search page
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 ISO MouseDO NCBI chr11:13,225,183...13,258,973
Ensembl chr11:13,224,959...13,258,978 		JBrowse link
G QRFPR pyroglutamylated RFamide peptide receptor ISO MouseDO NCBI chr 8:102,745,001...102,791,366
Ensembl chr 8:102,745,450...102,794,896 		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 5:62,835,926...62,841,827
Ensembl chr 5:62,835,880...62,841,884 		JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Bent Spine Syndrome ClinVar PMID:12707239 PMID:23861362 PMID:24793961 PMID:25467552 PMID:25741868 More... NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225 		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 chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844 		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 4:34,823,869...34,859,777
Ensembl chr 4:34,823,758...34,859,778 		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 chr 1:66,539,061...66,546,506
Ensembl chr 1:66,538,862...66,546,409 		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 6:77,160,827...77,268,626
Ensembl chr 6:77,161,097...77,267,415 		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 7:54,449,830...54,520,606
Ensembl chr 7:54,449,816...54,519,194 		JBrowse link
G ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif 4 ISO RGD PMID:22394620 RGD:10043115 NCBI chr 4:89,260,354...89,269,238
Ensembl chr 4:89,260,461...89,269,244 		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 chr13:190,353,019...190,413,110
Ensembl chr13:190,361,744...190,413,110 		JBrowse link
G ASPN asporin susceptibility
severity		 ISO DNA:repeats:exon:
mRNA:increased expression:intervertebral disk:		 RGD PMID:18304494 PMID:19327154 RGD:9684961 RGD:9684970 NCBI chr 3:42,165,553...42,192,902
Ensembl chr 3:42,165,561...42,192,813 		JBrowse link
G ATG7 autophagy related 7 ameliorates ISO RGD PMID:33372336 RGD:407571673 NCBI chr13:67,301,756...67,699,141
Ensembl chr13:67,417,938...67,707,654 		JBrowse link
G BECN1 beclin 1 ISO protein:increased expression:intervertebral disc RGD PMID:22835012 RGD:11561942 NCBI chr12:20,041,914...20,054,249
Ensembl chr12:20,041,956...20,054,373 		JBrowse link
G COL10A1 collagen type X alpha 1 chain ISO RGD PMID:20948465 RGD:8661231 NCBI chr 1:81,766,829...81,773,818
Ensembl chr 1:81,765,859...81,773,818 		JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO DNA:SNP: :rs2075555 (human) RGD PMID:19180518 RGD:5688293 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004 		JBrowse link
G COL2A1 collagen type II alpha 1 chain treatment ISO associated with Renal Insufficiency
mRNA:decreased expression:intervertebral disc (rat)		 RGD PMID:19063844 PMID:20948465 PMID:24285589 RGD:10043178 RGD:11570539 RGD:8661231 NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,137...78,380,718 		JBrowse link
G CRK CRK proto-oncogene, adaptor protein treatment ISO RGD PMID:23055810 RGD:11568070 NCBI chr12:47,656,805...47,685,641
Ensembl chr12:47,657,865...47,685,908 		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 2:71,207,141...71,245,863
Ensembl chr 2:71,207,096...71,248,906 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO associated with Progeria RGD PMID:20973062 RGD:13207419 NCBI chr 6:51,783,537...51,808,898
Ensembl chr 6:51,783,478...51,798,984 		JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit treatment ISO RGD PMID:29208967 RGD:405650595 NCBI chr 7:98,449,508...98,451,971
Ensembl chr 7:98,449,349...98,455,554 		JBrowse link
G GSK3B glycogen synthase kinase 3 beta ISO RGD PMID:29393545 RGD:13792726 NCBI chr13:140,136,109...140,370,197
Ensembl chr13:140,136,158...140,369,569 		JBrowse link
G MAP1LC3A microtubule associated protein 1 light chain 3 alpha ISO protein:increased expression:intervertebral disc RGD PMID:22835012 RGD:11561942 NCBI chr17:37,957,830...37,959,505
Ensembl chr17:37,957,507...37,959,505 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO RGD PMID:19916288 RGD:7207382 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076 		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 9:33,549,003...33,616,700
Ensembl chr 9:33,549,008...33,561,162 		JBrowse link
G NGF nerve growth factor ISO RGD PMID:20973063 RGD:5144150 NCBI chr 4:105,256,691...105,307,843
Ensembl chr 4:105,256,749...105,307,837 		JBrowse link
G NGFR nerve growth factor receptor ISO RGD PMID:20973063 RGD:5144150 NCBI chr12:25,699,410...25,720,355
Ensembl chr12:25,699,427...25,720,356 		JBrowse link
G PAPPA pappalysin 1 ISO protein:increased expression:vertebral disc: RGD PMID:18552658 RGD:10412724 NCBI chr 1:256,544,496...256,784,813
Ensembl chr 1:256,544,928...256,780,760 		JBrowse link
G POSTN periostin ISO protein:increased expression:tail intervertebral disc:
mRNA,protein:increased expression:nucleus pulposus:		 RGD PMID:23453657 RGD:10040995 NCBI chr11:13,225,183...13,258,973
Ensembl chr11:13,224,959...13,258,978 		JBrowse link
G SPARC secreted protein acidic and cysteine rich ISO CTD Direct Evidence: marker/mechanism CTD PMID:20714283 NCBI chr16:71,368,164...71,380,972
Ensembl chr16:71,357,586...71,381,161 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:21351055 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 treatment ISO associated with Renal Insufficiency RGD PMID:19063844 RGD:10043178 NCBI chr  X:42,103,251...42,106,289
Ensembl chr  X:42,102,172...42,106,296 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34600870 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415 		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 (Colton blood group) ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr18:42,063,482...42,076,741
Ensembl chr18:42,063,485...42,076,746 		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 chr18:42,251,755...42,296,457
Ensembl chr18:42,251,749...42,295,467 		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 chr18:42,903,100...42,913,609
Ensembl chr18:42,903,100...42,913,609 		JBrowse link
G GARS1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr18:42,311,711...42,352,201
Ensembl chr18:42,311,576...42,352,162 		JBrowse link
G GGCT gamma-glutamylcyclotransferase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr18:42,410,734...42,418,534
Ensembl chr18:42,410,792...42,418,980 		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 chr18:42,030,505...42,046,178
Ensembl chr18:42,030,510...42,046,184 		JBrowse link
G INMT indolethylamine N-methyltransferase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr18:42,213,335...42,218,175
Ensembl chr18:42,209,352...42,218,174 		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 chr18:42,096,351...42,202,511
Ensembl chr18:42,096,353...42,200,694 		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 chr18:42,767,452...42,802,109
Ensembl chr18:42,771,454...42,802,093 		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 chr18:42,464,667...42,509,135
Ensembl chr18:42,432,050...42,512,264 		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 chr18:42,841,085...42,901,203
Ensembl chr18:42,820,921...42,902,867 		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 chr18:42,550,571...42,651,914
Ensembl chr18:42,549,846...42,651,807 		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 chr 1:101,518,629...103,087,021
Ensembl chr 1:101,846,100...103,083,096 		JBrowse link
G ROBO3 roundabout guidance receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:52,065,043...52,081,764
Ensembl chr 9:52,065,499...52,081,625 		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 9:52,065,043...52,081,764
Ensembl chr 9:52,065,499...52,081,625 		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 chr 1:101,518,629...103,087,021
Ensembl chr 1:101,846,100...103,083,096 		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 chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964 		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 chr 1:22,662,009...22,802,166
Ensembl chr 1:22,662,022...22,801,848 		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 4:110,819,422...110,845,354
Ensembl chr 4:110,819,428...110,845,132 		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 4:72,572,455...72,754,443
Ensembl chr 4:72,573,453...72,694,146 		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 chr 6:106,545,882...106,693,711
Ensembl chr 6:106,419,943...106,691,625 		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 7:55,200,591...55,220,237
Ensembl chr 7:55,200,594...55,220,240 		JBrowse link
G MAPK7 mitogen-activated protein kinase 7 ISO ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1 ClinVar PMID:28714182 NCBI chr12:60,144,138...60,148,743
Ensembl chr12:60,144,136...60,158,739 		JBrowse link
G MBTPS1 membrane bound transcription factor peptidase, site 1 ISO MouseDO NCBI chr 6:4,503,530...4,558,601
Ensembl chr 6:4,503,565...4,558,609 		JBrowse link
G PRMT5 protein arginine methyltransferase 5 ISO MouseDO NCBI chr 7:76,110,956...76,119,619
Ensembl chr 7:76,110,951...76,124,989 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO MouseDO NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003 		JBrowse link
G RUNX3 RUNX family transcription factor 3 ISO MouseDO NCBI chr 6:82,531,203...82,595,044
Ensembl chr 6:82,531,559...82,595,026 		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 chr 3:42,165,553...42,192,902
Ensembl chr 3:42,165,561...42,192,813 		JBrowse link
G BDNF brain derived neurotrophic factor ISO mRNA:increased expression:intervertebral disc RGD PMID:37888810 RGD:405850252 NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,624,048...32,679,765 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO mRNA,protein:increased expression:neuron,macrophage: RGD PMID:24462503 RGD:8661788 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,369,122...29,376,343 		JBrowse link
G CILP cartilage intermediate layer protein susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr 1:163,236,864...163,271,222
Ensembl chr 1:163,237,100...163,256,533 		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 chr 4:115,638,381...115,841,679
Ensembl chr 4:115,634,172...115,840,708 		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 chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004 		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 chr17:62,074,108...62,094,228
Ensembl chr17:62,074,855...62,093,703 		JBrowse link
G GDNF glial cell derived neurotrophic factor ISO mRNA:increased expression:intervertebral disc RGD PMID:37888810 RGD:405850252 NCBI chr16:22,936,602...22,965,929
Ensembl chr16:22,936,604...22,966,536 		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 chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,244...190,674,845 		JBrowse link
G MIR155 microRNA mir-155 treatment ISO miRNA:decreased expression:nucleus pulposus RGD PMID:27227700 RGD:24922221 NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902 		JBrowse link
G THBS2 thrombospondin 2 susceptibility ISO ClinVar Annotator: match by term: Lumbar disc herniation, susceptibility to ClinVar
OMIM		 PMID:18455130 NCBI chr 1:854,473...882,467
Ensembl chr 1:855,389...882,473 		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
G APOA4 apolipoprotein A4 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:16372267 RGD:5685665 NCBI chr 9:44,201,587...44,204,072
Ensembl chr 9:44,201,508...44,204,206 		JBrowse link
G BDNF brain derived neurotrophic factor ISO protein:increased expression:dorsal root ganglion: RGD PMID:14615047 RGD:8657329 NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,624,048...32,679,765 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17999364 NCBI chr 4:115,638,381...115,841,679
Ensembl chr 4:115,634,172...115,840,708 		JBrowse link
G CTSL cathepsin L ISO protein:increased expression:annulus fibrosus (rat) RGD PMID:15758467 RGD:2315595 NCBI chr10:27,668,523...27,674,705
Ensembl chr10:27,668,264...27,674,618 		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 6:19,312,351...19,324,439 JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 ISO protein:increased expression:spinal cord RGD PMID:21224760 RGD:4891907 NCBI chr13:23,944,386...23,957,567
Ensembl chr13:23,944,369...23,957,486 		JBrowse link
G GC GC vitamin D binding protein ISO protein:increased expression:cerebrospinal fluid RGD PMID:16868893 RGD:5509883 NCBI chr 8:68,326,293...68,360,262
Ensembl chr 8:68,326,299...68,360,262 		JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha severity ISO RGD PMID:33455530 RGD:407532702 NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,244...190,674,845 		JBrowse link
G HTR2A 5-hydroxytryptamine receptor 2A treatment ISO RGD PMID:25584948 RGD:401938625 NCBI chr11:20,555,939...20,620,225
Ensembl chr11:20,555,963...20,619,625 		JBrowse link
G IGF1 insulin like growth factor 1 ISO RGD PMID:21037532 RGD:8549460 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033 		JBrowse link
G IL1RL1 interleukin 1 receptor like 1 ISO protein:increased expression:spinal cord: RGD PMID:29329586 RGD:40400909 NCBI chr 3:51,868,549...51,902,454
Ensembl chr 3:51,846,792...51,951,383 		JBrowse link
G IL33 interleukin 33 ISO protein:increased expression:spinal cord: RGD PMID:29329586 RGD:40400909 NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840 		JBrowse link
G KMT2D lysine methyltransferase 2D severity ISO RGD PMID:32599142 RGD:155598599 NCBI chr 5:15,049,827...15,091,622 JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:24826482 RGD:10450584 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO human protein in rat model RGD PMID:21057386 RGD:5131270 NCBI chr 6:72,195,420...72,231,146
Ensembl chr 6:72,195,435...72,231,147 		JBrowse link
Kahrizi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100525350 polyprenol reductase 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 8:42,024,352...42,049,209 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 chr18:45,388,523...45,392,190
Ensembl chr18:45,388,375...45,391,953 		JBrowse link
G HOXC10 homeobox C10 ISO mRNA:decreased expression:verterbra RGD PMID:18327665 RGD:11354896 NCBI chr 5:19,197,810...19,202,975
Ensembl chr 5:19,197,807...19,202,970 		JBrowse link
G HOXD10 homeobox D10 ISO mRNA:decreased expression:verterbra RGD PMID:18327665 RGD:11354896 NCBI chr15:81,911,372...81,921,164
Ensembl chr15:81,917,637...81,921,461 		JBrowse link
G HOXD11 homeobox D11 ISO mRNA:decreased expression:verterbra RGD PMID:18327665 RGD:11354896 NCBI chr15:81,906,654...81,910,765
Ensembl chr15:81,908,460...81,911,282 		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 1:249,905,550...249,980,570
Ensembl chr 1:249,905,351...249,981,641 		JBrowse link
G FAM111B FAM111 trypsin like peptidase B ISO ClinVar Annotator: match by term: Kyphosis ClinVar PMID:25741868 NCBI chr 2:12,268,692...12,279,386
Ensembl chr 2:12,268,695...12,279,559 		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 chr12:20,872,155...20,881,604
Ensembl chr12:20,872,158...20,882,644 		JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11790802 NCBI chr 2:6,701,455...6,720,191
Ensembl chr 2:6,701,510...6,720,153 		JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20561897 NCBI chr10:14,203,157...14,241,164
Ensembl chr10:14,203,160...14,241,196 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15666309 NCBI chr 6:71,987,938...72,019,712
Ensembl chr 6:71,988,459...72,021,804 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18925670 NCBI chr 2:150,996,868...151,027,483
Ensembl chr 2:150,996,686...151,022,148 		JBrowse link
G SLC39A13 solute carrier family 39 member 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18985159 NCBI chr 2:15,194,028...15,202,936
Ensembl chr 2:15,194,017...15,210,425 		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 7:54,449,830...54,520,606
Ensembl chr 7:54,449,816...54,519,194 		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 chr17:27,941,333...28,058,150
Ensembl chr17:27,807,244...28,058,135 		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 chr14:41,125,819...41,169,582
Ensembl chr14:41,125,869...41,169,578 		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 chr14:60,412,651...60,415,687
Ensembl chr14:60,412,812...60,415,674 		JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO ClinVar Annotator: match by term: Rigid spine syndrome ClinVar PMID:25741868 NCBI chr16:27,936,225...27,957,261
Ensembl chr16:27,936,218...27,957,193 		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 6:83,030,629...83,054,387
Ensembl chr 6:83,030,702...83,054,377 		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 6:83,089,942...83,228,648
Ensembl chr 6:83,089,072...83,228,008 		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 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458 		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 chr 6:83,246,934...83,262,748
Ensembl chr 6:83,246,934...83,262,743 		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 chr13:28,219,241...28,229,113
Ensembl chr13:28,219,500...28,229,096 		JBrowse link
G NFIX nuclear factor I X ISO OMIM:181440 MouseDO NCBI chr 2:65,954,808...66,056,591
Ensembl chr 2:65,954,811...66,056,567 		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 chr12:53,309,845...53,331,780
Ensembl chr12:53,309,848...53,331,523 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 NCBI chr 4:72,572,455...72,754,443
Ensembl chr 4:72,573,453...72,694,146 		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 chr15:133,051,668...133,059,935
Ensembl chr15:133,052,031...133,058,544 		JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Scoliosis ClinVar NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,224 		JBrowse link
G DLL3 delta like canonical Notch ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17849441 NCBI chr 6:48,135,738...48,155,373
Ensembl chr 6:48,147,635...48,155,292 		JBrowse link
G ELP1 elongator acetyltransferase complex subunit 1 ISO RGD PMID:11097445 RGD:5129159 NCBI chr 1:249,905,550...249,980,570
Ensembl chr 1:249,905,351...249,981,641 		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 chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649 		JBrowse link
G FBN2 fibrillin 2 ISO DNA:frameshift mutation, missense mutations:exon:multiple RGD PMID:24833718 RGD:12910484 NCBI chr 2:131,150,665...131,370,241
Ensembl chr 2:131,150,667...131,370,466 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO MouseDO NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
G FXR1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 NCBI chr13:118,839,314...118,899,804
Ensembl chr13:118,839,338...118,900,136 		JBrowse link
G GDF3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:19864492 PMID:25741868 PMID:28492532 NCBI chr 5:62,835,926...62,841,827
Ensembl chr 5:62,835,880...62,841,884 		JBrowse link
G GFAP glial fibrillary acidic protein ISO ClinVar Annotator: match by term: Scoliosis ClinVar NCBI chr12:18,456,268...18,466,594
Ensembl chr12:18,456,263...18,466,592 		JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 PMID:28492532 PMID:32333447 NCBI chr 2:142,387,563...142,401,232
Ensembl chr 2:142,385,872...142,401,208 		JBrowse link
G HES7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 NCBI chr12:53,334,350...53,339,336
Ensembl chr12:53,333,907...53,337,575 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 PMID:28492532 NCBI chr17:19,591,248...19,629,659
Ensembl chr17:19,591,259...19,629,641 		JBrowse link
G KIF1B kinesin family member 1B ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 NCBI chr 6:70,495,143...70,663,464
Ensembl chr 6:70,495,144...70,661,798 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO protein:increased expression:intervertebral disc (rat) RGD PMID:21554726 RGD:7207288 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076 		JBrowse link
G MYF5 myogenic factor 5 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:10844060 PMID:29887215 NCBI chr 5:100,753,440...100,755,558
Ensembl chr 5:100,752,890...100,755,494 		JBrowse link
G NOTCH1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17849441
G POC5 POC5 centriolar protein ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25642776 PMID:25741868 PMID:28492532 NCBI chr 2:84,689,592...84,730,980
Ensembl chr 2:84,689,370...84,730,951 		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 chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003 		JBrowse link
G RAB5IF RAB5 interacting factor ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:24194475 PMID:35614220 NCBI chr17:39,868,849...39,878,623
Ensembl chr17:39,868,882...39,882,690 		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 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458 		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 chr 2:150,183,480...150,247,747
Ensembl chr 2:150,183,485...150,247,637 		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:115,017,704...115,020,601
Ensembl chr  X:115,019,232...115,020,578 		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 3:18,271,983...18,277,864
Ensembl chr 3:18,271,983...18,277,580 		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 4:84,961,912...85,011,139
Ensembl chr 4:84,961,819...85,017,820 		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 2:41,075,623...41,109,005
Ensembl chr 2:41,075,628...41,109,437 		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 2:18,099,790...18,239,229
Ensembl chr 2:18,209,102...18,232,025 		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 8:82,115,057...82,355,660
Ensembl chr 8:82,115,056...82,355,655 		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 chr13:68,828,710...68,902,062
Ensembl chr13:68,828,719...68,902,060 		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 chr13:39,789,259...39,938,751
Ensembl chr13:39,789,739...39,938,746 		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 chr12:55,351,152...55,373,236
Ensembl chr12:55,347,087...55,375,353 		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 chr 2:150,996,868...151,027,483
Ensembl chr 2:150,996,686...151,022,148 		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 chr11:9,427,236...9,479,251
Ensembl chr11:9,427,037...9,479,228 		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 chr 1:149,090,502...149,517,494
Ensembl chr 1:149,090,789...149,516,790 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15394
    disease of anatomical entity 15088
      musculoskeletal system disease 7878
        bone disease 3922
          bone structure disease 130
            Spinal Curvatures + 84
            bone deterioration disease + 46
            scoliosis + 69
            spondylolisthesis + 0
            spondylolysis + 1
            spondylosis + 2
Path 2
Term Annotations click to browse term
  disease 15394
    disease of anatomical entity 15088
      musculoskeletal system disease 7878
        connective tissue disease 5423
          bone disease 3922
            bone structure disease 130
              Spinal Curvatures + 84
              bone deterioration disease + 46
              scoliosis + 69
              spondylolisthesis + 0
              spondylolysis + 1
              spondylosis + 2
paths to the root