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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Abnormal thoracic spine morphology
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Accession:HP:0100711 term browser browse the term
Definition:An abnormality of the thoracic vertebral column.
Synonyms:exact_synonym: Abnormality of the thoracic spine
 xref: UMLS:C4021989



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Abnormal thoracic spine morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLI1 Fli-1 proto-oncogene, ETS transcription factor IAGP HPO ORPHA:370348 NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267
JBrowse link
G SC5D sterol-C5-desaturase IAGP HPO ORPHA:46059 NCBI chr11:121,292,771...121,313,410
Ensembl chr11:121,292,681...121,313,410
JBrowse link
Lower thoracic kyphosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NPR2 natriuretic peptide receptor 2 IAGP HPO MIM:602875 NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732
JBrowse link
Thoracic kyphoscoliosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG6 adhesion G protein-coupled receptor G6 IAGP HPO MIM:616503 NCBI chr 6:142,302,007...142,446,261
Ensembl chr 6:142,301,854...142,446,266
JBrowse link
G AGRN agrin IAGP HPO ORPHA:98913 NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,119
JBrowse link
G AK9 adenylate kinase 9 IAGP HPO ORPHA:98913 NCBI chr 6:109,492,855...109,691,202
Ensembl chr 6:109,492,855...109,691,217
JBrowse link
G ALOXE3 arachidonate epidermal lipoxygenase 3 IAGP ClinVar Annotator: match by term: Thoracic kyphoscoliosis ClinVar PMID:25741868 NCBI chr17:8,095,900...8,118,916
Ensembl chr17:8,095,900...8,119,047
JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP HPO ORPHA:98913 NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935
JBrowse link
G CHRNB1 cholinergic receptor nicotinic beta 1 subunit IAGP HPO ORPHA:98913 NCBI chr17:7,445,061...7,457,710
Ensembl chr17:7,445,061...7,457,710
JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit IAGP HPO ORPHA:98913 NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667
JBrowse link
G CHRNE cholinergic receptor nicotinic epsilon subunit IAGP HPO ORPHA:98913 NCBI chr17:4,897,771...4,908,677
Ensembl chr17:4,897,771...4,934,438
JBrowse link
G COL13A1 collagen type XIII alpha 1 chain IAGP HPO ORPHA:98913 NCBI chr10:69,801,906...69,959,144
Ensembl chr10:69,801,880...69,964,275
JBrowse link
G DES desmin IAGP HPO ORPHA:98909 NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735
JBrowse link
G DOK7 docking protein 7 IAGP HPO ORPHA:98913 NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473
JBrowse link
G HES7 hes family bHLH transcription factor 7 IAGP ClinVar Annotator: match by term: Thoracic kyphoscoliosis ClinVar PMID:25741868 NCBI chr17:8,120,592...8,126,634
Ensembl chr17:8,120,592...8,124,106
JBrowse link
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial IAGP HPO ORPHA:436174 NCBI chr 1:220,094,132...220,148,041
Ensembl chr 1:220,094,132...220,148,041
JBrowse link
G ITCH itchy E3 ubiquitin protein ligase IAGP HPO MIM:613385 NCBI chr20:34,363,273...34,511,773
Ensembl chr20:34,363,235...34,511,773
JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:1662 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
JBrowse link
G LOC126862485 CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:8020998-8022197 IAGP ClinVar Annotator: match by term: Thoracic kyphoscoliosis ClinVar PMID:25741868 NCBI chr17:8,117,680...8,118,879 JBrowse link
G LOC130060199 ATAC-STARR-seq lymphoblastoid active region 11663 IAGP ClinVar Annotator: match by term: Thoracic kyphoscoliosis ClinVar PMID:25741868 NCBI chr17:8,118,981...8,119,080 JBrowse link
G LOC130060200 ATAC-STARR-seq lymphoblastoid silent region 8152 IAGP ClinVar Annotator: match by term: Thoracic kyphoscoliosis ClinVar PMID:25741868 NCBI chr17:8,119,601...8,119,650 JBrowse link
G LOC130060201 ATAC-STARR-seq lymphoblastoid silent region 8153 IAGP ClinVar Annotator: match by term: Thoracic kyphoscoliosis ClinVar PMID:25741868 NCBI chr17:8,119,781...8,119,870 JBrowse link
G LOC130060202 ATAC-STARR-seq lymphoblastoid silent region 8154 IAGP ClinVar Annotator: match by term: Thoracic kyphoscoliosis ClinVar PMID:25741868 NCBI chr17:8,120,241...8,120,450 JBrowse link
G LOC130060203 ATAC-STARR-seq lymphoblastoid silent region 8155 IAGP ClinVar Annotator: match by term: Thoracic kyphoscoliosis ClinVar PMID:25741868 NCBI chr17:8,121,391...8,121,850 JBrowse link
G LOC130060204 ATAC-STARR-seq lymphoblastoid silent region 8156 IAGP ClinVar Annotator: match by term: Thoracic kyphoscoliosis ClinVar PMID:25741868 NCBI chr17:8,122,071...8,122,180 JBrowse link
G LOC130060205 ATAC-STARR-seq lymphoblastoid silent region 8157 IAGP ClinVar Annotator: match by term: Thoracic kyphoscoliosis ClinVar PMID:25741868 NCBI chr17:8,125,625...8,125,674 JBrowse link
G LOC130060206 ATAC-STARR-seq lymphoblastoid silent region 8159 IAGP ClinVar Annotator: match by term: Thoracic kyphoscoliosis ClinVar PMID:25741868 NCBI chr17:8,126,515...8,126,704 JBrowse link
G LRP4 LDL receptor related protein 4 IAGP HPO ORPHA:98913 NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642
JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP HPO ORPHA:98913 NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558
JBrowse link
G NKX3-2 NK3 homeobox 2 IAGP HPO MIM:613330 NCBI chr 4:13,540,830...13,547,744
Ensembl chr 4:13,540,830...13,544,508
JBrowse link
G PCGF2 polycomb group ring finger 2 IAGP HPO MIM:618371 NCBI chr17:38,733,898...38,749,792
Ensembl chr17:38,733,898...38,749,817
JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP HPO ORPHA:1900 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538
JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 IAGP HPO ORPHA:481152 NCBI chr 1:225,919,878...225,924,250
Ensembl chr 1:225,919,877...225,924,340
JBrowse link
G RAPSN receptor associated protein of the synapse IAGP HPO ORPHA:98913 NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143
JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO ORPHA:98913 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918
JBrowse link
G SOX5 SRY-box transcription factor 5 IAGP HPO ORPHA:313892 NCBI chr12:23,529,504...24,562,650
Ensembl chr12:23,529,504...24,562,544
JBrowse link
G SPRTN SprT-like N-terminal domain IAGP HPO MIM:616200 NCBI chr 1:231,338,293...231,355,023
Ensembl chr 1:231,337,104...231,355,023
JBrowse link
G TRG-GCC2-6 tRNA-Gly (anticodon GCC) 2-6 IAGP ClinVar Annotator: match by term: Thoracic kyphoscoliosis ClinVar PMID:25741868 NCBI chr17:8,125,746...8,125,816 JBrowse link
G TRK-TTT3-5 tRNA-Lys (anticodon TTT) 3-5 IAGP ClinVar Annotator: match by term: Thoracic kyphoscoliosis ClinVar PMID:25741868 NCBI chr17:8,119,155...8,119,227 JBrowse link
G TRL-TAG1-1 tRNA-Leu (anticodon TAG) 1-1 IAGP ClinVar Annotator: match by term: Thoracic kyphoscoliosis ClinVar PMID:25741868 NCBI chr17:8,120,314...8,120,395 JBrowse link
G TRQ-CTG1-5 tRNA-Gln (anticodon CTG) 1-5 IAGP ClinVar Annotator: match by term: Thoracic kyphoscoliosis ClinVar PMID:25741868 NCBI chr17:8,119,752...8,119,823 JBrowse link
G TRR-TCT2-1 tRNA-Arg (anticodon TCT) 2-1 IAGP ClinVar Annotator: match by term: Thoracic kyphoscoliosis ClinVar PMID:25741868 NCBI chr17:8,120,925...8,121,012 JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO ORPHA:1662 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180
JBrowse link
Thoracic kyphosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707
JBrowse link
G ADAMTS15 ADAM metallopeptidase with thrombospondin type 1 motif 15 IAGP HPO MIM:620545 NCBI chr11:130,448,645...130,476,645
Ensembl chr11:130,448,645...130,476,645
JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 IAGP HPO MIM:300232 NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879
JBrowse link
G ALDH3A2 aldehyde dehydrogenase 3 family member A2 IAGP HPO MIM:270200 NCBI chr17:19,648,136...19,677,596
Ensembl chr17:19,648,136...19,685,760
JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 IAGP HPO MIM:148050 ORPHA:2332 NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,619...89,490,561
JBrowse link
G AP1G1 adaptor related protein complex 1 subunit gamma 1 IAGP HPO MIM:619467 NCBI chr16:71,729,000...71,808,834
Ensembl chr16:71,729,000...71,809,201
JBrowse link
G CARS1 cysteinyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO MIM:609162 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 IAGP HPO ORPHA:909 NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293
JBrowse link
G DMD dystrophin IAGP HPO ORPHA:206546 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609
JBrowse link
G DYM dymeclin IAGP HPO MIM:223800 NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP HPO ORPHA:33364 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit IAGP HPO ORPHA:33364 NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166
JBrowse link
G GTF2E2 general transcription factor IIE subunit 2 IAGP HPO ORPHA:33364 NCBI chr 8:30,578,318...30,658,236
Ensembl chr 8:30,578,318...30,658,236
JBrowse link
G GTF2H5 general transcription factor IIH subunit 5 IAGP HPO ORPHA:33364 NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344
JBrowse link
G HECTD4 HECT domain E3 ubiquitin protein ligase 4 IAGP HPO MIM:620250 NCBI chr12:112,160,195...112,382,431
Ensembl chr12:112,160,188...112,382,439
JBrowse link
G KY kyphoscoliosis peptidase IAGP HPO MIM:617114 NCBI chr 3:134,599,923...134,651,022
Ensembl chr 3:134,599,923...134,651,636
JBrowse link
G LMNA lamin A/C IAGP HPO MIM:181350 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
JBrowse link
G MPLKIP M-phase specific PLK1 interacting protein IAGP HPO ORPHA:33364 NCBI chr 7:40,126,027...40,134,622
Ensembl chr 7:40,126,027...40,134,622
JBrowse link
G NARS1 asparaginyl-tRNA synthetase 1 IAGP HPO MIM:619092 NCBI chr18:57,600,656...57,621,836
Ensembl chr18:57,600,656...57,622,213
JBrowse link
G NFIX nuclear factor I X IAGP HPO MIM:602535 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796
JBrowse link
G PHF8 PHD finger protein 8 IAGP HPO MIM:300263 NCBI chr  X:53,936,680...54,048,936
Ensembl chr  X:53,936,676...54,048,958
JBrowse link
G PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha IAGP HPO MIM:618440 ORPHA:557003 NCBI chr11:17,086,575...17,207,986
Ensembl chr11:17,077,730...17,207,986
JBrowse link
G PRKG2 protein kinase cGMP-dependent 2 IAGP HPO MIM:619638 NCBI chr 4:81,087,370...81,217,836
Ensembl chr 4:81,087,370...81,215,222
JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP HPO ORPHA:508498 NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709
JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO MIM:607095 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017
JBrowse link
G RNF113A ring finger protein 113A IAGP HPO ORPHA:33364 NCBI chr  X:119,870,475...119,871,733
Ensembl chr  X:119,870,475...119,871,733
JBrowse link
G RYR1 ryanodine receptor 1 IAGP HPO MIM:619542 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
JBrowse link
G SMARCAL1 SNF2 related chromatin remodeling annealing helicase 1 IAGP HPO MIM:242900 NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053
JBrowse link
G SRD5A3 steroid 5 alpha-reductase 3 IAGP HPO MIM:612713 NCBI chr 4:55,346,242...55,373,100
Ensembl chr 4:55,346,213...55,373,100
JBrowse link
G TARS1 threonyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr 5:33,440,696...33,468,091
Ensembl chr 5:33,440,696...33,468,091
JBrowse link
G TONSL tonsoku like, DNA repair protein IAGP HPO MIM:271510 NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440
JBrowse link
G TPM2 tropomyosin 2 IAGP HPO MIM:609285 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056
JBrowse link
G TRAPPC2 trafficking protein particle complex subunit 2 IAGP HPO ORPHA:93284 NCBI chr  X:13,712,245...13,734,620
Ensembl chr  X:13,712,244...13,734,635
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO ORPHA:93314 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
JBrowse link
G VPS33A VPS33A core subunit of CORVET and HOPS complexes IAGP HPO ORPHA:505248 NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,502
JBrowse link
G WDR81 WD repeat domain 81 IAGP HPO MIM:610185 NCBI chr17:1,716,523...1,738,585
Ensembl chr17:1,716,523...1,738,599
JBrowse link
G XYLT2 xylosyltransferase 2 IAGP HPO ORPHA:85194 NCBI chr17:50,346,126...50,361,185
Ensembl chr17:50,346,126...50,363,138
JBrowse link
Thoracic scoliosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO MIM:620278 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104
JBrowse link
G AEBP1 AE binding protein 1 IAGP HPO MIM:618000 ORPHA:536532 NCBI chr 7:44,104,345...44,114,560
Ensembl chr 7:44,104,345...44,114,562
JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP HPO ORPHA:64 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166
JBrowse link
G ALOXE3 arachidonate epidermal lipoxygenase 3 IAGP ClinVar Annotator: match by term: Thoracic scoliosis ClinVar PMID:25741868 NCBI chr17:8,095,900...8,118,916
Ensembl chr17:8,095,900...8,119,047
JBrowse link
G BAG3 BAG cochaperone 3 IAGP HPO MIM:612954 NCBI chr10:119,651,380...119,677,819
Ensembl chr10:119,651,380...119,677,819
JBrowse link
G BMPR2 bone morphogenetic protein receptor type 2 IAGP ClinVar Annotator: match by term: Thoracic scoliosis ClinVar PMID:12358323 PMID:18321866 PMID:25741868 PMID:28492532 NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751
JBrowse link
G COG1 component of oligomeric golgi complex 1 IAGP HPO MIM:611209 NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,193,055...73,208,507
JBrowse link
G CTSK cathepsin K IAGP ClinVar Annotator: match by term: Thoracic scoliosis ClinVar PMID:24767306 PMID:25741868 PMID:28492532 PMID:31944631 NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,794,880...150,809,577
JBrowse link
G DMD dystrophin IAGP HPO ORPHA:206546 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609
JBrowse link
G ERLIN1 ER lipid raft associated 1 IAGP HPO MIM:615681 ORPHA:401785 NCBI chr10:100,150,094...100,186,029
Ensembl chr10:100,150,094...100,186,033
JBrowse link
G EXTL3 exostosin like glycosyltransferase 3 IAGP HPO MIM:617425 NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561
JBrowse link
G GDF3 growth differentiation factor 3 IAGP HPO MIM:613702 NCBI chr12:7,689,784...7,695,775
Ensembl chr12:7,689,784...7,695,775
JBrowse link
G GNS glucosamine (N-acetyl)-6-sulfatase IAGP HPO MIM:252940 NCBI chr12:64,713,449...64,759,406
Ensembl chr12:64,713,445...64,759,431
JBrowse link
G HES7 hes family bHLH transcription factor 7 IAGP ClinVar Annotator: match by term: Thoracic scoliosis ClinVar PMID:25741868 NCBI chr17:8,120,592...8,126,634
Ensembl chr17:8,120,592...8,124,106
JBrowse link
G HINT1 histidine triad nucleotide binding protein 1 IAGP HPO ORPHA:324442 NCBI chr 5:131,159,027...131,165,256
Ensembl chr 5:131,155,383...131,224,468
JBrowse link
G KDM6A lysine demethylase 6A IAGP HPO MIM:147920 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779
JBrowse link
G KMT2D lysine methyltransferase 2D IAGP HPO MIM:147920 MIM:620186 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
JBrowse link
G LOC126862485 CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:8020998-8022197 IAGP ClinVar Annotator: match by term: Thoracic scoliosis ClinVar PMID:25741868 NCBI chr17:8,117,680...8,118,879 JBrowse link
G LOC130060199 ATAC-STARR-seq lymphoblastoid active region 11663 IAGP ClinVar Annotator: match by term: Thoracic scoliosis ClinVar PMID:25741868 NCBI chr17:8,118,981...8,119,080 JBrowse link
G LOC130060200 ATAC-STARR-seq lymphoblastoid silent region 8152 IAGP ClinVar Annotator: match by term: Thoracic scoliosis ClinVar PMID:25741868 NCBI chr17:8,119,601...8,119,650 JBrowse link
G LOC130060201 ATAC-STARR-seq lymphoblastoid silent region 8153 IAGP ClinVar Annotator: match by term: Thoracic scoliosis ClinVar PMID:25741868 NCBI chr17:8,119,781...8,119,870 JBrowse link
G LOC130060202 ATAC-STARR-seq lymphoblastoid silent region 8154 IAGP ClinVar Annotator: match by term: Thoracic scoliosis ClinVar PMID:25741868 NCBI chr17:8,120,241...8,120,450 JBrowse link
G LOC130060203 ATAC-STARR-seq lymphoblastoid silent region 8155 IAGP ClinVar Annotator: match by term: Thoracic scoliosis ClinVar PMID:25741868 NCBI chr17:8,121,391...8,121,850 JBrowse link
G LOC130060204 ATAC-STARR-seq lymphoblastoid silent region 8156 IAGP ClinVar Annotator: match by term: Thoracic scoliosis ClinVar PMID:25741868 NCBI chr17:8,122,071...8,122,180 JBrowse link
G LOC130060205 ATAC-STARR-seq lymphoblastoid silent region 8157 IAGP ClinVar Annotator: match by term: Thoracic scoliosis ClinVar PMID:25741868 NCBI chr17:8,125,625...8,125,674 JBrowse link
G LOC130060206 ATAC-STARR-seq lymphoblastoid silent region 8159 IAGP ClinVar Annotator: match by term: Thoracic scoliosis ClinVar PMID:25741868 NCBI chr17:8,126,515...8,126,704 JBrowse link
G MOGS mannosyl-oligosaccharide glucosidase IAGP HPO MIM:606056 ORPHA:79330 NCBI chr 2:74,461,057...74,465,382
Ensembl chr 2:74,461,057...74,465,410
JBrowse link
G MTRFR mitochondrial translation release factor in rescue IAGP HPO ORPHA:254930 NCBI chr12:123,232,914...123,257,960
Ensembl chr12:123,233,385...123,258,079
JBrowse link
G MYH7 myosin heavy chain 7 IAGP HPO MIM:255160 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660
JBrowse link
G MYPN myopalladin IAGP HPO ORPHA:171881 NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017
JBrowse link
G NEK9 NIMA related kinase 9 IAGP HPO MIM:617022 NCBI chr14:75,079,353...75,127,202
Ensembl chr14:75,079,353...75,127,344
JBrowse link
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Thoracic scoliosis ClinVar PMID:9180088 PMID:10678181 PMID:10712197 PMID:14722917 PMID:16479075 More... NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G NFIX nuclear factor I X IAGP HPO MIM:602535 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796
JBrowse link
G PEX5 peroxisomal biogenesis factor 5 IAGP HPO MIM:616716 NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574
JBrowse link
G PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 IAGP HPO MIM:603387 NCBI chr19:18,153,163...18,170,532
Ensembl chr19:18,153,163...18,170,540
JBrowse link
G PLK4 polo like kinase 4 IAGP HPO MIM:616171 NCBI chr 4:127,880,893...127,899,224
Ensembl chr 4:127,880,893...127,899,224
JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP HPO ORPHA:1900 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538
JBrowse link
G PRKG2 protein kinase cGMP-dependent 2 IAGP HPO MIM:619636 NCBI chr 4:81,087,370...81,217,836
Ensembl chr 4:81,087,370...81,215,222
JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP HPO ORPHA:508488 ORPHA:508498 NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709
JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP HPO MIM:212720 NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529
JBrowse link
G RAB5IF RAB5 interacting factor IAGP HPO MIM:616994 NCBI chr20:36,605,779...36,612,557
Ensembl chr20:36,605,779...36,612,557
JBrowse link
G RBBP8 RB binding protein 8, endonuclease IAGP HPO MIM:251255 NCBI chr18:22,914,139...23,026,486
Ensembl chr18:22,798,261...23,026,488
JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO MIM:620351 MIM:620369 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918
JBrowse link
G SERPINH1 serpin family H member 1 IAGP HPO MIM:613848 NCBI chr11:75,562,253...75,572,783
Ensembl chr11:75,562,056...75,572,783
JBrowse link
G SGCA sarcoglycan alpha IAGP HPO ORPHA:62 NCBI chr17:50,166,005...50,175,928
Ensembl chr17:50,164,214...50,175,928
JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO MIM:114290 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
JBrowse link
G TBX5 T-box transcription factor 5 IAGP HPO MIM:142900 NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442
JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B IAGP ClinVar Annotator: match by term: Thoracic scoliosis ClinVar PMID:17464555 PMID:20652909 PMID:25741868 PMID:28492532 PMID:33859323 More... NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118
JBrowse link
G TPM2 tropomyosin 2 IAGP HPO ORPHA:171881 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056
JBrowse link
G TPM3 tropomyosin 3 IAGP HPO ORPHA:171881 NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648
JBrowse link
G TRG-GCC2-6 tRNA-Gly (anticodon GCC) 2-6 IAGP ClinVar Annotator: match by term: Thoracic scoliosis ClinVar PMID:25741868 NCBI chr17:8,125,746...8,125,816 JBrowse link
G TRK-TTT3-5 tRNA-Lys (anticodon TTT) 3-5 IAGP ClinVar Annotator: match by term: Thoracic scoliosis ClinVar PMID:25741868 NCBI chr17:8,119,155...8,119,227 JBrowse link
G TRL-TAG1-1 tRNA-Leu (anticodon TAG) 1-1 IAGP ClinVar Annotator: match by term: Thoracic scoliosis ClinVar PMID:25741868 NCBI chr17:8,120,314...8,120,395 JBrowse link
G TRQ-CTG1-5 tRNA-Gln (anticodon CTG) 1-5 IAGP ClinVar Annotator: match by term: Thoracic scoliosis ClinVar PMID:25741868 NCBI chr17:8,119,752...8,119,823 JBrowse link
G TRR-TCT2-1 tRNA-Arg (anticodon TCT) 2-1 IAGP ClinVar Annotator: match by term: Thoracic scoliosis ClinVar PMID:25741868 NCBI chr17:8,120,925...8,121,012 JBrowse link
G TUBB3 tubulin beta 3 class III IAGP HPO ORPHA:300570 NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761
JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B IAGP HPO MIM:216550 NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580
JBrowse link
G WDR81 WD repeat domain 81 IAGP HPO MIM:610185 NCBI chr17:1,716,523...1,738,585
Ensembl chr17:1,716,523...1,738,599
JBrowse link
G ZFX zinc finger protein X-linked IAGP HPO MIM:301118 NCBI chr  X:24,148,982...24,216,255
Ensembl chr  X:24,149,173...24,216,255
JBrowse link
G ZNF469 zinc finger protein 469 IAGP ClinVar Annotator: match by term: Thoracic scoliosis ClinVar PMID:25741868 PMID:28492532 NCBI chr16:88,100,931...88,440,753
Ensembl chr16:88,382,959...88,440,757
JBrowse link
Thoracolumbar kyphoscoliosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALOXE3 arachidonate epidermal lipoxygenase 3 IAGP ClinVar Annotator: match by term: Thoracolumbar kyphoscoliosis ClinVar PMID:25741868 NCBI chr17:8,095,900...8,118,916
Ensembl chr17:8,095,900...8,119,047
JBrowse link
G CCN6 cellular communication network factor 6 IAGP HPO ORPHA:1159 NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686
JBrowse link
G CDH11 cadherin 11 IAGP HPO ORPHA:1299 NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112
JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO MIM:252500 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959
JBrowse link
G HES7 hes family bHLH transcription factor 7 IAGP ClinVar Annotator: match by term: Thoracolumbar kyphoscoliosis ClinVar PMID:25741868 NCBI chr17:8,120,592...8,126,634
Ensembl chr17:8,120,592...8,124,106
JBrowse link
G LHX3 LIM homeobox 3 IAGP HPO ORPHA:231720 NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128
JBrowse link
G LOC126862485 CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:8020998-8022197 IAGP ClinVar Annotator: match by term: Thoracolumbar kyphoscoliosis ClinVar PMID:25741868 NCBI chr17:8,117,680...8,118,879 JBrowse link
G LOC130060199 ATAC-STARR-seq lymphoblastoid active region 11663 IAGP ClinVar Annotator: match by term: Thoracolumbar kyphoscoliosis ClinVar PMID:25741868 NCBI chr17:8,118,981...8,119,080 JBrowse link
G LOC130060200 ATAC-STARR-seq lymphoblastoid silent region 8152 IAGP ClinVar Annotator: match by term: Thoracolumbar kyphoscoliosis ClinVar PMID:25741868 NCBI chr17:8,119,601...8,119,650 JBrowse link
G LOC130060201 ATAC-STARR-seq lymphoblastoid silent region 8153 IAGP ClinVar Annotator: match by term: Thoracolumbar kyphoscoliosis ClinVar PMID:25741868 NCBI chr17:8,119,781...8,119,870 JBrowse link
G LOC130060202 ATAC-STARR-seq lymphoblastoid silent region 8154 IAGP ClinVar Annotator: match by term: Thoracolumbar kyphoscoliosis ClinVar PMID:25741868 NCBI chr17:8,120,241...8,120,450 JBrowse link
G LOC130060203 ATAC-STARR-seq lymphoblastoid silent region 8155 IAGP ClinVar Annotator: match by term: Thoracolumbar kyphoscoliosis ClinVar PMID:25741868 NCBI chr17:8,121,391...8,121,850 JBrowse link
G LOC130060204 ATAC-STARR-seq lymphoblastoid silent region 8156 IAGP ClinVar Annotator: match by term: Thoracolumbar kyphoscoliosis ClinVar PMID:25741868 NCBI chr17:8,122,071...8,122,180 JBrowse link
G LOC130060205 ATAC-STARR-seq lymphoblastoid silent region 8157 IAGP ClinVar Annotator: match by term: Thoracolumbar kyphoscoliosis ClinVar PMID:25741868 NCBI chr17:8,125,625...8,125,674 JBrowse link
G LOC130060206 ATAC-STARR-seq lymphoblastoid silent region 8159 IAGP ClinVar Annotator: match by term: Thoracolumbar kyphoscoliosis ClinVar PMID:25741868 NCBI chr17:8,126,515...8,126,704 JBrowse link
G MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase IAGP HPO MIM:212066 NCBI chr14:49,620,799...49,623,481
Ensembl chr14:49,620,799...49,623,481
JBrowse link
G NEPRO nucleolus and neural progenitor protein IAGP HPO MIM:618853 NCBI chr 3:113,002,444...113,019,671
Ensembl chr 3:113,002,444...113,019,861
JBrowse link
G POP1 POP1 homolog, ribonuclease P/MRP subunit IAGP HPO MIM:617396 NCBI chr 8:98,117,293...98,159,835
Ensembl chr 8:98,117,293...98,159,835
JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO ORPHA:56304 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
JBrowse link
G TRG-GCC2-6 tRNA-Gly (anticodon GCC) 2-6 IAGP ClinVar Annotator: match by term: Thoracolumbar kyphoscoliosis ClinVar PMID:25741868 NCBI chr17:8,125,746...8,125,816 JBrowse link
G TRK-TTT3-5 tRNA-Lys (anticodon TTT) 3-5 IAGP ClinVar Annotator: match by term: Thoracolumbar kyphoscoliosis ClinVar PMID:25741868 NCBI chr17:8,119,155...8,119,227 JBrowse link
G TRL-TAG1-1 tRNA-Leu (anticodon TAG) 1-1 IAGP ClinVar Annotator: match by term: Thoracolumbar kyphoscoliosis ClinVar PMID:25741868 NCBI chr17:8,120,314...8,120,395 JBrowse link
G TRQ-CTG1-5 tRNA-Gln (anticodon CTG) 1-5 IAGP ClinVar Annotator: match by term: Thoracolumbar kyphoscoliosis ClinVar PMID:25741868 NCBI chr17:8,119,752...8,119,823 JBrowse link
G TRR-TCT2-1 tRNA-Arg (anticodon TCT) 2-1 IAGP ClinVar Annotator: match by term: Thoracolumbar kyphoscoliosis ClinVar PMID:25741868 NCBI chr17:8,120,925...8,121,012 JBrowse link
Thoracolumbar kyphosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMER1 APC membrane recruitment protein 1 IAGP HPO MIM:300373 NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO MIM:151210 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G EXTL3 exostosin like glycosyltransferase 3 IAGP HPO MIM:617425 ORPHA:508533 NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561
JBrowse link
G FBXO28 F-box protein 28 IAGP HPO MIM:619777 NCBI chr 1:224,114,111...224,162,047
Ensembl chr 1:224,114,111...224,162,047
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO ORPHA:15 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FLNB filamin B IAGP HPO ORPHA:56305 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO ORPHA:2072 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link
G GLB1 galactosidase beta 1 IAGP HPO MIM:230600 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202
JBrowse link
G GUSB glucuronidase beta IAGP HPO MIM:253220 NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,684...65,982,215
JBrowse link
G KIF22 kinesin family member 22 IAGP HPO ORPHA:93360 NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385
JBrowse link
G LBR lamin B receptor IAGP HPO MIM:618019 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 IAGP HPO MIM:248500 NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,643,831...12,666,742
JBrowse link
G MED12L mediator complex subunit 12L IAGP HPO MIM:618872 NCBI chr 3:151,085,664...151,436,653
Ensembl chr 3:151,085,286...151,437,072
JBrowse link
G NPR2 natriuretic peptide receptor 2 IAGP HPO MIM:602875 NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732
JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO ORPHA:628 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 87531
    Phenotypic abnormality 87110
      Abnormality of the musculoskeletal system 11664
        Abnormality of the skeletal system 10410
          Abnormal skeletal morphology 9891
            Abnormal axial skeleton morphology 3528
              Abnormality of the vertebral column 2181
                Abnormal thoracic spine morphology 134
                  Fractured thoracic vertebra + 0
                  Thoracic kyphosis + 75
                  Thoracic scoliosis + 81
paths to the root