Term: | Abnormal thoracic spine morphology |
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Accession: | HP:0100711
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browse the term
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Definition: | An abnormality of the thoracic vertebral column. |
Synonyms: | exact_synonym: | Abnormality of the thoracic spine |
| xref: | UMLS:C4021989 |
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FLI1 |
Fli-1 proto-oncogene, ETS transcription factor |
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IAGP |
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HPO |
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ORPHA:370348 |
NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267
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SC5D |
sterol-C5-desaturase |
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IAGP |
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HPO |
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ORPHA:46059 |
NCBI chr11:121,292,771...121,313,410
Ensembl chr11:121,292,681...121,313,410
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NPR2 |
natriuretic peptide receptor 2 |
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IAGP |
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HPO |
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MIM:602875 |
NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732
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ADGRG6 |
adhesion G protein-coupled receptor G6 |
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IAGP |
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HPO |
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MIM:616503 |
NCBI chr 6:142,302,007...142,446,261
Ensembl chr 6:142,301,854...142,446,266
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AGRN |
agrin |
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IAGP |
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HPO |
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ORPHA:98913 |
NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,119
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AK9 |
adenylate kinase 9 |
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IAGP |
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HPO |
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ORPHA:98913 |
NCBI chr 6:109,492,855...109,691,202
Ensembl chr 6:109,492,855...109,691,217
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ALOXE3 |
arachidonate epidermal lipoxygenase 3 |
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IAGP |
ClinVar Annotator: match by term: Thoracic kyphoscoliosis |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,095,900...8,118,916
Ensembl chr17:8,095,900...8,119,047
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CHRNA1 |
cholinergic receptor nicotinic alpha 1 subunit |
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IAGP |
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HPO |
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ORPHA:98913 |
NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935
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CHRNB1 |
cholinergic receptor nicotinic beta 1 subunit |
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IAGP |
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HPO |
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ORPHA:98913 |
NCBI chr17:7,445,061...7,457,710
Ensembl chr17:7,445,061...7,457,710
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CHRND |
cholinergic receptor nicotinic delta subunit |
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IAGP |
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HPO |
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ORPHA:98913 |
NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667
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CHRNE |
cholinergic receptor nicotinic epsilon subunit |
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IAGP |
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HPO |
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ORPHA:98913 |
NCBI chr17:4,897,771...4,908,677
Ensembl chr17:4,897,771...4,934,438
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COL13A1 |
collagen type XIII alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:98913 |
NCBI chr10:69,801,906...69,959,144
Ensembl chr10:69,801,880...69,964,275
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DES |
desmin |
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IAGP |
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HPO |
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ORPHA:98909 |
NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735
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DOK7 |
docking protein 7 |
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IAGP |
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HPO |
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ORPHA:98913 |
NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473
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HES7 |
hes family bHLH transcription factor 7 |
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IAGP |
ClinVar Annotator: match by term: Thoracic kyphoscoliosis |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,120,592...8,126,634
Ensembl chr17:8,120,592...8,124,106
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IARS2 |
isoleucyl-tRNA synthetase 2, mitochondrial |
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IAGP |
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HPO |
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ORPHA:436174 |
NCBI chr 1:220,094,132...220,148,041
Ensembl chr 1:220,094,132...220,148,041
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ITCH |
itchy E3 ubiquitin protein ligase |
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IAGP |
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HPO |
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MIM:613385 |
NCBI chr20:34,363,273...34,511,773
Ensembl chr20:34,363,235...34,511,773
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LMNA |
lamin A/C |
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IAGP |
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HPO |
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ORPHA:1662 |
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
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LOC126862485 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:8020998-8022197 |
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IAGP |
ClinVar Annotator: match by term: Thoracic kyphoscoliosis |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,117,680...8,118,879
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LOC130060199 |
ATAC-STARR-seq lymphoblastoid active region 11663 |
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IAGP |
ClinVar Annotator: match by term: Thoracic kyphoscoliosis |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,118,981...8,119,080
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LOC130060200 |
ATAC-STARR-seq lymphoblastoid silent region 8152 |
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IAGP |
ClinVar Annotator: match by term: Thoracic kyphoscoliosis |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,119,601...8,119,650
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LOC130060201 |
ATAC-STARR-seq lymphoblastoid silent region 8153 |
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IAGP |
ClinVar Annotator: match by term: Thoracic kyphoscoliosis |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,119,781...8,119,870
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LOC130060202 |
ATAC-STARR-seq lymphoblastoid silent region 8154 |
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IAGP |
ClinVar Annotator: match by term: Thoracic kyphoscoliosis |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,120,241...8,120,450
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LOC130060203 |
ATAC-STARR-seq lymphoblastoid silent region 8155 |
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IAGP |
ClinVar Annotator: match by term: Thoracic kyphoscoliosis |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,121,391...8,121,850
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LOC130060204 |
ATAC-STARR-seq lymphoblastoid silent region 8156 |
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IAGP |
ClinVar Annotator: match by term: Thoracic kyphoscoliosis |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,122,071...8,122,180
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LOC130060205 |
ATAC-STARR-seq lymphoblastoid silent region 8157 |
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IAGP |
ClinVar Annotator: match by term: Thoracic kyphoscoliosis |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,125,625...8,125,674
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LOC130060206 |
ATAC-STARR-seq lymphoblastoid silent region 8159 |
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IAGP |
ClinVar Annotator: match by term: Thoracic kyphoscoliosis |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,126,515...8,126,704
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LRP4 |
LDL receptor related protein 4 |
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IAGP |
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HPO |
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ORPHA:98913 |
NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642
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MUSK |
muscle associated receptor tyrosine kinase |
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IAGP |
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HPO |
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ORPHA:98913 |
NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558
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NKX3-2 |
NK3 homeobox 2 |
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IAGP |
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HPO |
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MIM:613330 |
NCBI chr 4:13,540,830...13,547,744
Ensembl chr 4:13,540,830...13,544,508
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PCGF2 |
polycomb group ring finger 2 |
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IAGP |
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HPO |
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MIM:618371 |
NCBI chr17:38,733,898...38,749,792
Ensembl chr17:38,733,898...38,749,817
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PLOD1 |
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 |
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IAGP |
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HPO |
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ORPHA:1900 |
NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538
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PYCR2 |
pyrroline-5-carboxylate reductase 2 |
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IAGP |
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HPO |
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ORPHA:481152 |
NCBI chr 1:225,919,878...225,924,250
Ensembl chr 1:225,919,877...225,924,340
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RAPSN |
receptor associated protein of the synapse |
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IAGP |
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HPO |
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ORPHA:98913 |
NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143
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SCN4A |
sodium voltage-gated channel alpha subunit 4 |
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IAGP |
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HPO |
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ORPHA:98913 |
NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918
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SOX5 |
SRY-box transcription factor 5 |
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IAGP |
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HPO |
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ORPHA:313892 |
NCBI chr12:23,529,504...24,562,650
Ensembl chr12:23,529,504...24,562,544
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SPRTN |
SprT-like N-terminal domain |
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IAGP |
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HPO |
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MIM:616200 |
NCBI chr 1:231,338,293...231,355,023
Ensembl chr 1:231,337,104...231,355,023
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TRG-GCC2-6 |
tRNA-Gly (anticodon GCC) 2-6 |
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IAGP |
ClinVar Annotator: match by term: Thoracic kyphoscoliosis |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,125,746...8,125,816
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TRK-TTT3-5 |
tRNA-Lys (anticodon TTT) 3-5 |
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IAGP |
ClinVar Annotator: match by term: Thoracic kyphoscoliosis |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,119,155...8,119,227
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TRL-TAG1-1 |
tRNA-Leu (anticodon TAG) 1-1 |
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IAGP |
ClinVar Annotator: match by term: Thoracic kyphoscoliosis |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,120,314...8,120,395
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TRQ-CTG1-5 |
tRNA-Gln (anticodon CTG) 1-5 |
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IAGP |
ClinVar Annotator: match by term: Thoracic kyphoscoliosis |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,119,752...8,119,823
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TRR-TCT2-1 |
tRNA-Arg (anticodon TCT) 2-1 |
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IAGP |
ClinVar Annotator: match by term: Thoracic kyphoscoliosis |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,120,925...8,121,012
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ZMPSTE24 |
zinc metallopeptidase STE24 |
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IAGP |
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HPO |
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ORPHA:1662 |
NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180
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AARS1 |
alanyl-tRNA synthetase 1 |
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IAGP |
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HPO |
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ORPHA:33364 |
NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707
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ADAMTS15 |
ADAM metallopeptidase with thrombospondin type 1 motif 15 |
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IAGP |
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HPO |
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MIM:620545 |
NCBI chr11:130,448,645...130,476,645
Ensembl chr11:130,448,645...130,476,645
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AIFM1 |
apoptosis inducing factor mitochondria associated 1 |
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IAGP |
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HPO |
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MIM:300232 |
NCBI chr X:130,129,362...130,165,841
Ensembl chr X:130,124,666...130,165,879
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ALDH3A2 |
aldehyde dehydrogenase 3 family member A2 |
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IAGP |
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HPO |
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MIM:270200 |
NCBI chr17:19,648,136...19,677,596
Ensembl chr17:19,648,136...19,685,760
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ANKRD11 |
ankyrin repeat domain containing 11 |
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IAGP |
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HPO |
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MIM:148050 ORPHA:2332 |
NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,619...89,490,561
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AP1G1 |
adaptor related protein complex 1 subunit gamma 1 |
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IAGP |
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HPO |
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MIM:619467 |
NCBI chr16:71,729,000...71,808,834
Ensembl chr16:71,729,000...71,809,201
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CARS1 |
cysteinyl-tRNA synthetase 1 |
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IAGP |
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HPO |
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ORPHA:33364 |
NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613
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COL2A1 |
collagen type II alpha 1 chain |
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IAGP |
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HPO |
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MIM:609162 |
NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
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CYP27A1 |
cytochrome P450 family 27 subfamily A member 1 |
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IAGP |
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HPO |
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ORPHA:909 |
NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293
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DMD |
dystrophin |
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IAGP |
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HPO |
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ORPHA:206546 |
NCBI chr X:31,119,222...33,339,388
Ensembl chr X:31,097,677...33,339,609
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DYM |
dymeclin |
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IAGP |
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HPO |
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MIM:223800 |
NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347
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ERCC2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
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IAGP |
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HPO |
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ORPHA:33364 |
NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
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ERCC3 |
ERCC excision repair 3, TFIIH core complex helicase subunit |
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IAGP |
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HPO |
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ORPHA:33364 |
NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166
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GTF2E2 |
general transcription factor IIE subunit 2 |
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IAGP |
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HPO |
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ORPHA:33364 |
NCBI chr 8:30,578,318...30,658,236
Ensembl chr 8:30,578,318...30,658,236
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GTF2H5 |
general transcription factor IIH subunit 5 |
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IAGP |
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HPO |
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ORPHA:33364 |
NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344
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HECTD4 |
HECT domain E3 ubiquitin protein ligase 4 |
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IAGP |
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HPO |
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MIM:620250 |
NCBI chr12:112,160,195...112,382,431
Ensembl chr12:112,160,188...112,382,439
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KY |
kyphoscoliosis peptidase |
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IAGP |
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HPO |
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MIM:617114 |
NCBI chr 3:134,599,923...134,651,022
Ensembl chr 3:134,599,923...134,651,636
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LMNA |
lamin A/C |
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IAGP |
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HPO |
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MIM:181350 |
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
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MPLKIP |
M-phase specific PLK1 interacting protein |
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IAGP |
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HPO |
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ORPHA:33364 |
NCBI chr 7:40,126,027...40,134,622
Ensembl chr 7:40,126,027...40,134,622
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NARS1 |
asparaginyl-tRNA synthetase 1 |
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IAGP |
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HPO |
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MIM:619092 |
NCBI chr18:57,600,656...57,621,836
Ensembl chr18:57,600,656...57,622,213
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NFIX |
nuclear factor I X |
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IAGP |
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HPO |
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MIM:602535 |
NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796
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PHF8 |
PHD finger protein 8 |
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IAGP |
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HPO |
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MIM:300263 |
NCBI chr X:53,936,680...54,048,936
Ensembl chr X:53,936,676...54,048,958
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PIK3C2A |
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha |
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IAGP |
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HPO |
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MIM:618440 ORPHA:557003 |
NCBI chr11:17,086,575...17,207,986
Ensembl chr11:17,077,730...17,207,986
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PRKG2 |
protein kinase cGMP-dependent 2 |
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IAGP |
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HPO |
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MIM:619638 |
NCBI chr 4:81,087,370...81,217,836
Ensembl chr 4:81,087,370...81,215,222
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PUF60 |
poly(U) binding splicing factor 60 |
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IAGP |
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HPO |
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ORPHA:508498 |
NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709
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RMRP |
RNA component of mitochondrial RNA processing endoribonuclease |
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IAGP |
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HPO |
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MIM:607095 |
NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017
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RNF113A |
ring finger protein 113A |
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IAGP |
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HPO |
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ORPHA:33364 |
NCBI chr X:119,870,475...119,871,733
Ensembl chr X:119,870,475...119,871,733
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RYR1 |
ryanodine receptor 1 |
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IAGP |
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HPO |
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MIM:619542 |
NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
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SMARCAL1 |
SNF2 related chromatin remodeling annealing helicase 1 |
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IAGP |
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HPO |
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MIM:242900 |
NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053
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SRD5A3 |
steroid 5 alpha-reductase 3 |
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IAGP |
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HPO |
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MIM:612713 |
NCBI chr 4:55,346,242...55,373,100
Ensembl chr 4:55,346,213...55,373,100
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TARS1 |
threonyl-tRNA synthetase 1 |
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IAGP |
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HPO |
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ORPHA:33364 |
NCBI chr 5:33,440,696...33,468,091
Ensembl chr 5:33,440,696...33,468,091
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TONSL |
tonsoku like, DNA repair protein |
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IAGP |
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HPO |
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MIM:271510 |
NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440
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TPM2 |
tropomyosin 2 |
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IAGP |
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HPO |
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MIM:609285 |
NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056
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TRAPPC2 |
trafficking protein particle complex subunit 2 |
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IAGP |
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HPO |
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ORPHA:93284 |
NCBI chr X:13,712,245...13,734,620
Ensembl chr X:13,712,244...13,734,635
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TRPV4 |
transient receptor potential cation channel subfamily V member 4 |
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IAGP |
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HPO |
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ORPHA:93314 |
NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
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VPS33A |
VPS33A core subunit of CORVET and HOPS complexes |
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IAGP |
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HPO |
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ORPHA:505248 |
NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,502
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WDR81 |
WD repeat domain 81 |
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IAGP |
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HPO |
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MIM:610185 |
NCBI chr17:1,716,523...1,738,585
Ensembl chr17:1,716,523...1,738,599
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XYLT2 |
xylosyltransferase 2 |
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IAGP |
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HPO |
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ORPHA:85194 |
NCBI chr17:50,346,126...50,361,185
Ensembl chr17:50,346,126...50,363,138
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ACTA1 |
actin alpha 1, skeletal muscle |
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IAGP |
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HPO |
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MIM:620278 |
NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104
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AEBP1 |
AE binding protein 1 |
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IAGP |
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HPO |
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MIM:618000 ORPHA:536532 |
NCBI chr 7:44,104,345...44,114,560
Ensembl chr 7:44,104,345...44,114,562
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ALMS1 |
ALMS1 centrosome and basal body associated protein |
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IAGP |
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HPO |
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ORPHA:64 |
NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166
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ALOXE3 |
arachidonate epidermal lipoxygenase 3 |
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IAGP |
ClinVar Annotator: match by term: Thoracic scoliosis |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,095,900...8,118,916
Ensembl chr17:8,095,900...8,119,047
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G |
BAG3 |
BAG cochaperone 3 |
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IAGP |
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HPO |
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MIM:612954 |
NCBI chr10:119,651,380...119,677,819
Ensembl chr10:119,651,380...119,677,819
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G |
BMPR2 |
bone morphogenetic protein receptor type 2 |
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IAGP |
ClinVar Annotator: match by term: Thoracic scoliosis |
ClinVar |
PMID:12358323 PMID:18321866 PMID:25741868 PMID:28492532 |
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NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751
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G |
COG1 |
component of oligomeric golgi complex 1 |
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IAGP |
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HPO |
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MIM:611209 |
NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,193,055...73,208,507
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G |
CTSK |
cathepsin K |
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IAGP |
ClinVar Annotator: match by term: Thoracic scoliosis |
ClinVar |
PMID:24767306 PMID:25741868 PMID:28492532 PMID:31944631 |
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NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,794,880...150,809,577
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G |
DMD |
dystrophin |
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IAGP |
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HPO |
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ORPHA:206546 |
NCBI chr X:31,119,222...33,339,388
Ensembl chr X:31,097,677...33,339,609
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G |
ERLIN1 |
ER lipid raft associated 1 |
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IAGP |
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HPO |
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MIM:615681 ORPHA:401785 |
NCBI chr10:100,150,094...100,186,029
Ensembl chr10:100,150,094...100,186,033
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G |
EXTL3 |
exostosin like glycosyltransferase 3 |
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IAGP |
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HPO |
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MIM:617425 |
NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561
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G |
GDF3 |
growth differentiation factor 3 |
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IAGP |
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HPO |
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MIM:613702 |
NCBI chr12:7,689,784...7,695,775
Ensembl chr12:7,689,784...7,695,775
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G |
GNS |
glucosamine (N-acetyl)-6-sulfatase |
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IAGP |
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HPO |
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MIM:252940 |
NCBI chr12:64,713,449...64,759,406
Ensembl chr12:64,713,445...64,759,431
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G |
HES7 |
hes family bHLH transcription factor 7 |
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IAGP |
ClinVar Annotator: match by term: Thoracic scoliosis |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,120,592...8,126,634
Ensembl chr17:8,120,592...8,124,106
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G |
HINT1 |
histidine triad nucleotide binding protein 1 |
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IAGP |
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HPO |
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ORPHA:324442 |
NCBI chr 5:131,159,027...131,165,256
Ensembl chr 5:131,155,383...131,224,468
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G |
KDM6A |
lysine demethylase 6A |
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IAGP |
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HPO |
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MIM:147920 |
NCBI chr X:44,873,188...45,112,779
Ensembl chr X:44,873,188...45,112,779
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G |
KMT2D |
lysine methyltransferase 2D |
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IAGP |
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HPO |
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MIM:147920 MIM:620186 |
NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
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G |
LOC126862485 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:8020998-8022197 |
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IAGP |
ClinVar Annotator: match by term: Thoracic scoliosis |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,117,680...8,118,879
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G |
LOC130060199 |
ATAC-STARR-seq lymphoblastoid active region 11663 |
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IAGP |
ClinVar Annotator: match by term: Thoracic scoliosis |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,118,981...8,119,080
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G |
LOC130060200 |
ATAC-STARR-seq lymphoblastoid silent region 8152 |
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IAGP |
ClinVar Annotator: match by term: Thoracic scoliosis |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,119,601...8,119,650
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G |
LOC130060201 |
ATAC-STARR-seq lymphoblastoid silent region 8153 |
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IAGP |
ClinVar Annotator: match by term: Thoracic scoliosis |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,119,781...8,119,870
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G |
LOC130060202 |
ATAC-STARR-seq lymphoblastoid silent region 8154 |
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IAGP |
ClinVar Annotator: match by term: Thoracic scoliosis |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,120,241...8,120,450
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G |
LOC130060203 |
ATAC-STARR-seq lymphoblastoid silent region 8155 |
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IAGP |
ClinVar Annotator: match by term: Thoracic scoliosis |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,121,391...8,121,850
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G |
LOC130060204 |
ATAC-STARR-seq lymphoblastoid silent region 8156 |
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IAGP |
ClinVar Annotator: match by term: Thoracic scoliosis |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,122,071...8,122,180
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G |
LOC130060205 |
ATAC-STARR-seq lymphoblastoid silent region 8157 |
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IAGP |
ClinVar Annotator: match by term: Thoracic scoliosis |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,125,625...8,125,674
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G |
LOC130060206 |
ATAC-STARR-seq lymphoblastoid silent region 8159 |
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IAGP |
ClinVar Annotator: match by term: Thoracic scoliosis |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,126,515...8,126,704
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G |
MOGS |
mannosyl-oligosaccharide glucosidase |
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IAGP |
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HPO |
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MIM:606056 ORPHA:79330 |
NCBI chr 2:74,461,057...74,465,382
Ensembl chr 2:74,461,057...74,465,410
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G |
MTRFR |
mitochondrial translation release factor in rescue |
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IAGP |
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HPO |
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ORPHA:254930 |
NCBI chr12:123,232,914...123,257,960
Ensembl chr12:123,233,385...123,258,079
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G |
MYH7 |
myosin heavy chain 7 |
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IAGP |
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HPO |
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MIM:255160 |
NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660
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G |
MYPN |
myopalladin |
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IAGP |
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HPO |
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ORPHA:171881 |
NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017
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G |
NEK9 |
NIMA related kinase 9 |
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IAGP |
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HPO |
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MIM:617022 |
NCBI chr14:75,079,353...75,127,202
Ensembl chr14:75,079,353...75,127,344
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G |
NF1 |
neurofibromin 1 |
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IAGP |
ClinVar Annotator: match by term: Thoracic scoliosis |
ClinVar |
PMID:9180088 PMID:10678181 PMID:10712197 PMID:14722917 PMID:16479075 PMID:16941471 PMID:17209131 PMID:17551851 PMID:17914445 PMID:21354044 PMID:23460398 PMID:23668869 PMID:23913538 PMID:25240281 PMID:25741868 PMID:26467025 PMID:26969325 PMID:27069254 PMID:27838393 PMID:28492532 PMID:29872168 PMID:30530636 PMID:31370276 PMID:31533651 PMID:31533797 PMID:31717729 PMID:34427956 PMID:36988593 More...
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NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
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G |
NFIX |
nuclear factor I X |
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IAGP |
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HPO |
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MIM:602535 |
NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796
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G |
PEX5 |
peroxisomal biogenesis factor 5 |
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IAGP |
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HPO |
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MIM:616716 |
NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574
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G |
PIK3R2 |
phosphoinositide-3-kinase regulatory subunit 2 |
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IAGP |
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HPO |
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MIM:603387 |
NCBI chr19:18,153,163...18,170,532
Ensembl chr19:18,153,163...18,170,540
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G |
PLK4 |
polo like kinase 4 |
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IAGP |
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HPO |
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MIM:616171 |
NCBI chr 4:127,880,893...127,899,224
Ensembl chr 4:127,880,893...127,899,224
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G |
PLOD1 |
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 |
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IAGP |
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HPO |
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ORPHA:1900 |
NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538
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G |
PRKG2 |
protein kinase cGMP-dependent 2 |
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IAGP |
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HPO |
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MIM:619636 |
NCBI chr 4:81,087,370...81,217,836
Ensembl chr 4:81,087,370...81,215,222
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G |
PUF60 |
poly(U) binding splicing factor 60 |
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IAGP |
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HPO |
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ORPHA:508488 ORPHA:508498 |
NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709
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G |
RAB3GAP2 |
RAB3 GTPase activating non-catalytic protein subunit 2 |
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IAGP |
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HPO |
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MIM:212720 |
NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529
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G |
RAB5IF |
RAB5 interacting factor |
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IAGP |
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HPO |
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MIM:616994 |
NCBI chr20:36,605,779...36,612,557
Ensembl chr20:36,605,779...36,612,557
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G |
RBBP8 |
RB binding protein 8, endonuclease |
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IAGP |
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HPO |
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MIM:251255 |
NCBI chr18:22,914,139...23,026,486
Ensembl chr18:22,798,261...23,026,488
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G |
SCN4A |
sodium voltage-gated channel alpha subunit 4 |
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IAGP |
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HPO |
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MIM:620351 MIM:620369 |
NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918
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G |
SERPINH1 |
serpin family H member 1 |
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IAGP |
|
HPO |
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MIM:613848 |
NCBI chr11:75,562,253...75,572,783
Ensembl chr11:75,562,056...75,572,783
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G |
SGCA |
sarcoglycan alpha |
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IAGP |
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HPO |
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ORPHA:62 |
NCBI chr17:50,166,005...50,175,928
Ensembl chr17:50,164,214...50,175,928
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G |
SOX9 |
SRY-box transcription factor 9 |
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IAGP |
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HPO |
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MIM:114290 |
NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
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G |
TBX5 |
T-box transcription factor 5 |
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IAGP |
|
HPO |
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MIM:142900 |
NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442
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G |
TNFRSF13B |
TNF receptor superfamily member 13B |
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IAGP |
ClinVar Annotator: match by term: Thoracic scoliosis |
ClinVar |
PMID:17464555 PMID:20652909 PMID:25741868 PMID:28492532 PMID:33859323 PMID:34441032 More...
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NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118
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G |
TPM2 |
tropomyosin 2 |
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IAGP |
|
HPO |
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ORPHA:171881 |
NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056
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G |
TPM3 |
tropomyosin 3 |
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IAGP |
|
HPO |
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ORPHA:171881 |
NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648
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G |
TRG-GCC2-6 |
tRNA-Gly (anticodon GCC) 2-6 |
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IAGP |
ClinVar Annotator: match by term: Thoracic scoliosis |
ClinVar |
PMID:25741868 |
|
NCBI chr17:8,125,746...8,125,816
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G |
TRK-TTT3-5 |
tRNA-Lys (anticodon TTT) 3-5 |
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IAGP |
ClinVar Annotator: match by term: Thoracic scoliosis |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,119,155...8,119,227
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G |
TRL-TAG1-1 |
tRNA-Leu (anticodon TAG) 1-1 |
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IAGP |
ClinVar Annotator: match by term: Thoracic scoliosis |
ClinVar |
PMID:25741868 |
|
NCBI chr17:8,120,314...8,120,395
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G |
TRQ-CTG1-5 |
tRNA-Gln (anticodon CTG) 1-5 |
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IAGP |
ClinVar Annotator: match by term: Thoracic scoliosis |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,119,752...8,119,823
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G |
TRR-TCT2-1 |
tRNA-Arg (anticodon TCT) 2-1 |
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IAGP |
ClinVar Annotator: match by term: Thoracic scoliosis |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,120,925...8,121,012
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G |
TUBB3 |
tubulin beta 3 class III |
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IAGP |
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HPO |
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ORPHA:300570 |
NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761
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G |
VPS13B |
vacuolar protein sorting 13 homolog B |
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IAGP |
|
HPO |
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MIM:216550 |
NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580
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G |
WDR81 |
WD repeat domain 81 |
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IAGP |
|
HPO |
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MIM:610185 |
NCBI chr17:1,716,523...1,738,585
Ensembl chr17:1,716,523...1,738,599
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G |
ZFX |
zinc finger protein X-linked |
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IAGP |
|
HPO |
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MIM:301118 |
NCBI chr X:24,148,982...24,216,255
Ensembl chr X:24,149,173...24,216,255
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G |
ZNF469 |
zinc finger protein 469 |
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IAGP |
ClinVar Annotator: match by term: Thoracic scoliosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr16:88,100,931...88,440,753
Ensembl chr16:88,382,959...88,440,757
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G |
ALOXE3 |
arachidonate epidermal lipoxygenase 3 |
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IAGP |
ClinVar Annotator: match by term: Thoracolumbar kyphoscoliosis |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,095,900...8,118,916
Ensembl chr17:8,095,900...8,119,047
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G |
CCN6 |
cellular communication network factor 6 |
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IAGP |
|
HPO |
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ORPHA:1159 |
NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686
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G |
CDH11 |
cadherin 11 |
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IAGP |
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HPO |
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ORPHA:1299 |
NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112
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G |
GNPTAB |
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta |
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IAGP |
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HPO |
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MIM:252500 |
NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959
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G |
HES7 |
hes family bHLH transcription factor 7 |
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IAGP |
ClinVar Annotator: match by term: Thoracolumbar kyphoscoliosis |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,120,592...8,126,634
Ensembl chr17:8,120,592...8,124,106
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G |
LHX3 |
LIM homeobox 3 |
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IAGP |
|
HPO |
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ORPHA:231720 |
NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128
|
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G |
LOC126862485 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:8020998-8022197 |
|
IAGP |
ClinVar Annotator: match by term: Thoracolumbar kyphoscoliosis |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,117,680...8,118,879
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G |
LOC130060199 |
ATAC-STARR-seq lymphoblastoid active region 11663 |
|
IAGP |
ClinVar Annotator: match by term: Thoracolumbar kyphoscoliosis |
ClinVar |
PMID:25741868 |
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NCBI chr17:8,118,981...8,119,080
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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
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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
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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
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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
|
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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
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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
|
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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
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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
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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
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G |
POP1 |
POP1 homolog, ribonuclease P/MRP subunit |
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IAGP |
|
HPO |
|
MIM:617396 |
NCBI chr 8:98,117,293...98,159,835
Ensembl chr 8:98,117,293...98,159,835
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G |
SLC26A2 |
solute carrier family 26 member 2 |
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IAGP |
|
HPO |
|
ORPHA:56304 |
NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
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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
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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
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|
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
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|
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
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|
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
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|
|
G |
AMER1 |
APC membrane recruitment protein 1 |
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IAGP |
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HPO |
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MIM:300373 |
NCBI chr X:64,185,117...64,205,708
Ensembl chr X:64,185,117...64,205,708
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G |
COL2A1 |
collagen type II alpha 1 chain |
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IAGP |
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HPO |
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MIM:151210 |
NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
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G |
EXTL3 |
exostosin like glycosyltransferase 3 |
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IAGP |
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HPO |
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MIM:617425 ORPHA:508533 |
NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561
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G |
FBXO28 |
F-box protein 28 |
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IAGP |
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HPO |
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MIM:619777 |
NCBI chr 1:224,114,111...224,162,047
Ensembl chr 1:224,114,111...224,162,047
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G |
FGFR3 |
fibroblast growth factor receptor 3 |
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IAGP |
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HPO |
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ORPHA:15 |
NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
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G |
FLNB |
filamin B |
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IAGP |
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HPO |
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ORPHA:56305 |
NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
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G |
GBA1 |
glucosylceramidase beta 1 |
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IAGP |
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HPO |
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ORPHA:2072 |
NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
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G |
GLB1 |
galactosidase beta 1 |
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IAGP |
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HPO |
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MIM:230600 |
NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202
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G |
GUSB |
glucuronidase beta |
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IAGP |
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HPO |
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MIM:253220 |
NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,684...65,982,215
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G |
KIF22 |
kinesin family member 22 |
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IAGP |
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HPO |
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ORPHA:93360 |
NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385
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G |
LBR |
lamin B receptor |
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IAGP |
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HPO |
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MIM:618019 |
NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
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G |
MAN2B1 |
mannosidase alpha class 2B member 1 |
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IAGP |
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HPO |
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MIM:248500 |
NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,643,831...12,666,742
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G |
MED12L |
mediator complex subunit 12L |
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IAGP |
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HPO |
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MIM:618872 |
NCBI chr 3:151,085,664...151,436,653
Ensembl chr 3:151,085,286...151,437,072
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G |
NPR2 |
natriuretic peptide receptor 2 |
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IAGP |
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HPO |
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MIM:602875 |
NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732
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G |
SLC26A2 |
solute carrier family 26 member 2 |
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IAGP |
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HPO |
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ORPHA:628 |
NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
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Term paths to the root
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