RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: bone structure disease
Accession: DOID:0080010
browse the term
Definition: A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure. (DO)
Synonyms: exact_synonym: ABNORMAL BONE STRUCTURE
narrow_synonym: Abnormality of bone mineral density
xref: HP:0003330; HP:0004348; MP:0003795
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POSTN
periostin
ISO
MouseDO
NCBI chr13:18,779,297...18,815,207
Ensembl chr13:37,368,030...37,407,212
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QRFPR
pyroglutamylated RFamide peptide receptor
ISO
MouseDO
NCBI chr 4:113,537,723...113,591,507
Ensembl chr 4:124,676,059...124,729,754
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GDF3
growth differentiation factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22613031
NCBI chr12:7,813,288...7,819,418
Ensembl chr12:7,972,907...7,979,815
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LOC100978529
myosin-7
ISO
ClinVar Annotator: match by term: Bent Spine Syndrome
ClinVar
PMID:12707239 PMID:23861362 PMID:24793961 PMID:25467552 PMID:25741868 PMID:25961035 PMID:26627873 PMID:26969127 PMID:27247418 PMID:27532257 PMID:28492532 PMID:29300372 PMID:30297972 PMID:31918855 PMID:32894683 PMID:33673806 PMID:34542152 More...
NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763
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POLG
DNA polymerase gamma, catalytic subunit
ISO
ClinVar Annotator: match by term: Bent Spine Syndrome
ClinVar
PMID:16621917 PMID:17452231 PMID:18546365 PMID:19189930 PMID:19578034 PMID:19752458 PMID:19815814 PMID:20227526 PMID:20301791 PMID:20803511 PMID:21856450 PMID:21880868 PMID:22647225 PMID:22727047 PMID:23808377 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27271921 PMID:28130605 PMID:28492532 PMID:37091313 More...
NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
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RRM2B
ribonucleotide reductase regulatory TP53 inducible subunit M2B
ISO
ClinVar Annotator: match by term: Bent Spine Syndrome
ClinVar
PMID:17486094 PMID:21378381 PMID:24741716 PMID:25741868 PMID:28492532 PMID:31521625 More...
NCBI chr 8:98,854,101...98,890,365
Ensembl chr 8:101,019,699...101,052,056
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PRDM13
PR/SET domain 13
ISO
ClinVar Annotator: match by term: Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism | ClinVar Annotator: match by term: PRDM13-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:34730112
NCBI chr 6:97,447,729...97,456,541
Ensembl chr 6:101,329,818...101,337,368
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PAX7
paired box 7
ISO
ClinVar Annotator: match by term: Myopathy, congenital, progressive, with scoliosis
OMIM ClinVar
PMID:25741868 PMID:31092906 PMID:32214227
NCBI chr 1:17,589,513...17,707,442
Ensembl chr 1:18,639,641...18,756,952
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ACAN
aggrecan
treatment
ISO
associated with Renal Insufficiency mRNA:decreased expression:intervertebral disk
RGD
PMID:19063844 PMID:24285589
RGD:10043178 RGD:11570539
NCBI chr15:67,492,494...67,563,265
Ensembl chr15:86,733,853...86,771,420
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ADAMTS4
ADAM metallopeptidase with thrombospondin type 1 motif 4
ISO
RGD
PMID:22394620
RGD:10043115
NCBI chr 1:136,602,140...136,611,469
Ensembl chr 1:140,514,247...140,523,623
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ADAMTS5
ADAM metallopeptidase with thrombospondin type 1 motif 5
ISO
mRNA:increased expression:intervertebral disk of cervical vertebra
RGD
PMID:20948465 PMID:22394620
RGD:10043115 RGD:8661231
NCBI chr21:13,352,222...13,402,165
Ensembl chr21:26,744,807...26,788,736
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ASPN
asporin
susceptibility severity
ISO
DNA:repeats:exon: mRNA:increased expression:intervertebral disk:
RGD
PMID:18304494 PMID:19327154
RGD:9684961 RGD:9684970
NCBI chr 9:63,579,188...63,605,811
Ensembl chr 9:91,651,629...91,677,969
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ATG7
autophagy related 7
ameliorates
ISO
RGD
PMID:33372336
RGD:407571673
NCBI chr 3:11,208,600...11,488,757
Ensembl chr 3:11,554,100...11,833,398
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BECN1
beclin 1
ISO
protein:increased expression:intervertebral disc
RGD
PMID:22835012
RGD:11561942
NCBI chr17:14,493,619...14,507,809
Ensembl chr17:14,719,781...14,733,286
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COL10A1
collagen type X alpha 1 chain
ISO
RGD
PMID:20948465
RGD:8661231
NCBI chr 6:113,921,538...113,961,490
Ensembl chr 6:118,067,477...118,074,684
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COL1A1
collagen type I alpha 1 chain
ISO
DNA:SNP: :rs2075555 (human)
RGD
PMID:19180518
RGD:5688293
NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
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COL2A1
collagen type II alpha 1 chain
treatment
ISO
mRNA:decreased expression:intervertebral disc (rat) associated with Renal Insufficiency
RGD
PMID:19063844 PMID:20948465 PMID:24285589
RGD:10043178 RGD:11570539 RGD:8661231
NCBI chr12:40,726,137...40,757,690
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CRK
CRK proto-oncogene, adaptor protein
treatment
ISO
RGD
PMID:23055810
RGD:11568070
NCBI chr17:1,406,335...1,438,587
Ensembl chr17:1,306,509...1,336,569
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ELAVL1
ELAV like RNA binding protein 1
ISO
associated with diabetes mellitus;protein:decreased expression:nucleus pulposus
RGD
PMID:33372336
RGD:407571673
NCBI chr19:7,259,829...7,306,808
Ensembl chr19:8,114,849...8,147,137
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ERCC1
ERCC excision repair 1, endonuclease non-catalytic subunit
ISO
associated with Progeria
RGD
PMID:20973062
RGD:13207419
NCBI chr19:42,356,039...42,427,754
Ensembl chr19:50,951,674...50,968,430
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FOS
Fos proto-oncogene, AP-1 transcription factor subunit
treatment
ISO
RGD
PMID:29208967
RGD:405650595
NCBI chr14:55,832,570...55,835,984
Ensembl chr14:74,676,316...74,679,766
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GSK3B
glycogen synthase kinase 3 beta
ISO
RGD
PMID:29393545
RGD:13792726
NCBI chr 3:116,943,205...117,215,001
Ensembl chr 3:123,861,379...124,126,771
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MAP1LC3A
microtubule associated protein 1 light chain 3 alpha
ISO
protein:increased expression:intervertebral disc
RGD
PMID:22835012
RGD:11561942
NCBI chr20:30,887,345...30,888,986
Ensembl chr20:32,010,284...32,020,411
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MMP1
matrix metallopeptidase 1
ISO
RGD
PMID:19916288
RGD:7207382
NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104
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MMP13
matrix metallopeptidase 13
treatment
ISO
mRNA:increased expression:intervertebral disc associated with Renal Insufficiency
RGD
PMID:19063844 PMID:20472983 PMID:20948465
RGD:10043178 RGD:2325859 RGD:8661231
NCBI chr11:97,890,811...97,902,778
Ensembl chr11:101,377,001...101,387,679
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MMP3
matrix metallopeptidase 3
treatment
ISO
mRNA:increased expression:intervertebral disc
RGD
PMID:20472983 PMID:20948465
RGD:2325859 RGD:8661231
NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354
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NGF
nerve growth factor
ISO
RGD
PMID:20973063
RGD:5144150
NCBI chr 1:87,223,597...87,276,759
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NGFR
nerve growth factor receptor
ISO
RGD
PMID:20973063
RGD:5144150
NCBI chr17:8,089,600...8,109,361
Ensembl chr17:8,075,316...8,094,966
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PAPPA
pappalysin 1
ISO
protein:increased expression:vertebral disc:
RGD
PMID:18552658
RGD:10412724
NCBI chr 9:87,287,289...87,535,414
Ensembl chr 9:115,671,212...115,883,435
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POSTN
periostin
ISO
mRNA,protein:increased expression:nucleus pulposus: protein:increased expression:tail intervertebral disc:
RGD
PMID:23453657
RGD:10040995
NCBI chr13:18,779,297...18,815,207
Ensembl chr13:37,368,030...37,407,212
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SPARC
secreted protein acidic and cysteine rich
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20714283
NCBI chr 5:147,087,903...147,112,466
Ensembl chr 5:153,090,181...153,115,750
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TGFB1
transforming growth factor beta 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21351055
NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
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TIMP1
TIMP metallopeptidase inhibitor 1
treatment
ISO
associated with Renal Insufficiency
RGD
PMID:19063844
RGD:10043178
NCBI chr X:40,018,190...40,022,636
Ensembl chr X:47,914,906...47,919,419
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TNF
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34600870
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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AQP1
aquaporin 1 (Colton blood group)
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2
ClinVar
PMID:28492532
NCBI chr 7:31,524,933...31,538,602
Ensembl chr 7:31,644,331...31,658,141
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CRHR2
corticotropin releasing hormone receptor 2
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2
ClinVar
PMID:28492532
NCBI chr 7:31,265,619...31,313,902
Ensembl chr 7:31,386,026...31,434,220
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FKBP14
FKBP prolyl isomerase 14
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22265013 PMID:24677762 PMID:25741868 PMID:26467025 PMID:27149304 PMID:27905128 PMID:28492532 PMID:28617417 PMID:30561154 PMID:31063316 PMID:31132235 PMID:31428121 PMID:33587123 PMID:34504686 PMID:36054293 PMID:36553464 More...
NCBI chr 7:30,641,413...30,656,507
Ensembl chr 7:30,758,165...30,772,640
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GARS1
glycyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2
ClinVar
PMID:28492532
NCBI chr 7:31,208,351...31,247,841
Ensembl chr 7:31,329,456...31,368,582
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GGCT
gamma-glutamylcyclotransferase
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2
ClinVar
PMID:28492532
NCBI chr 7:31,125,964...31,134,330
Ensembl chr 7:31,247,760...31,255,903
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GHRHR
growth hormone releasing hormone receptor
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2
ClinVar
PMID:28492532
NCBI chr 7:31,582,134...31,592,914
Ensembl chr 7:31,696,914...31,712,200
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INMT
indolethylamine N-methyltransferase
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2
ClinVar
PMID:28492532
NCBI chr 7:31,359,126...31,369,757
Ensembl chr 7:31,485,671...31,489,661
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MINDY4
MINDY lysine 48 deubiquitinase 4
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2
ClinVar
PMID:28492532
NCBI chr 7:31,384,527...31,505,551
Ensembl chr 7:31,504,351...31,625,097
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MTURN
maturin, neural progenitor differentiation regulator homolog
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2
ClinVar
PMID:28492532
NCBI chr 7:30,766,592...30,794,436
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NOD1
nucleotide binding oligomerization domain containing 1
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2
ClinVar
PMID:28492532
NCBI chr 7:31,060,245...31,109,012
Ensembl chr 7:31,182,275...31,208,742
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PLEKHA8
pleckstrin homology domain containing A8
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2
ClinVar
PMID:28492532
NCBI chr 7:30,657,504...30,762,105
Ensembl chr 7:30,774,203...30,877,631
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ZNRF2
zinc and ring finger 2
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2
ClinVar
PMID:28492532
NCBI chr 7:30,922,235...31,006,950
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DCC
DCC netrin 1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28250456
NCBI chr18:45,717,924...46,913,998
Ensembl chr18:49,268,812...50,255,155
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ROBO3
roundabout guidance receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr11:119,692,232...119,708,309
Ensembl chr11:123,607,268...123,623,356
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ROBO3
roundabout guidance receptor 3
ISO
ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis 1
OMIM ClinVar
PMID:15105459 PMID:16525029 PMID:16772357 PMID:18829051 PMID:19041479 PMID:19633821 PMID:21850172 PMID:24969490 PMID:25326635 PMID:25741868 PMID:27318526 PMID:28024310 PMID:28492532 PMID:29215389 PMID:32373565 PMID:32580277 PMID:32860008 PMID:34374989 PMID:36186627 More...
NCBI chr11:119,692,232...119,708,309
Ensembl chr11:123,607,268...123,623,356
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DCC
DCC netrin 1 receptor
ISO
ClinVar Annotator: match by term: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis, 2
OMIM ClinVar
PMID:25741868 PMID:28250456 PMID:28492532
NCBI chr18:45,717,924...46,913,998
Ensembl chr18:49,268,812...50,255,155
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FGFR3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Hypochondroplasia
OMIM ClinVar
PMID:1908846 PMID:4697848 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589686 PMID:8589699 PMID:8640234 PMID:8673103 PMID:8723101 PMID:8723106 PMID:8841188 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9300656 PMID:9438390 PMID:9450868 PMID:9452043 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9672519 PMID:9677066 PMID:9842995 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10215410 PMID:10360392 PMID:10360393 PMID:10361991 PMID:10395236 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10777366 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11314002 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11754059 PMID:11879084 PMID:12707965 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15915095 PMID:16766665 PMID:16841094 PMID:16912704 PMID:17256796 PMID:17384684 PMID:17509076 PMID:17526800 PMID:17552943 PMID:17875876 PMID:17895900 PMID:18000903 PMID:18076102 PMID:18198189 PMID:18252861 PMID:18266238 PMID:18328977 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19381019 PMID:19749790 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20420824 PMID:20453470 PMID:20624921 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22339077 PMID:22622662 PMID:22628360 PMID:22903874 PMID:23045425 PMID:23056398 PMID:23149434 PMID:23165795 PMID:23573386 PMID:23726269 PMID:23972473 PMID:24411048 PMID:24715719 PMID:24728327 PMID:25157968 PMID:25271085 PMID:25505835 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25777271 PMID:25809207 PMID:26220993 PMID:26380986 PMID:26467025 PMID:26619011 PMID:26740388 PMID:26754866 PMID:26818779 PMID:26887047 PMID:26992226 PMID:28181399 PMID:28230213 PMID:28492532 PMID:28763161 PMID:28777845 PMID:29593476 PMID:29595812 PMID:29620724 PMID:29681095 PMID:29758562 PMID:30138938 PMID:30355600 PMID:30681580 PMID:30692697 PMID:30753492 PMID:31048079 PMID:31130284 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:33511985 PMID:33942288 PMID:35726512 PMID:36135330 PMID:36373817 PMID:36474027 PMID:36714562 More...
NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692
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ADGRG6
adhesion G protein-coupled receptor G6
ISO
MouseDO
NCBI chr 6:140,069,168...140,211,011
Ensembl chr 6:144,142,374...144,283,545
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CELSR2
cadherin EGF LAG seven-pass G-type receptor 2
ISO
ClinVar Annotator: match by term: Idiopathic scoliosis
ClinVar
PMID:25741868 PMID:28492532 PMID:29240829
NCBI chr 1:111,627,551...111,653,775
Ensembl chr 1:110,791,682...110,815,421
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CHD7
chromodomain helicase DNA binding protein 7
ISO
ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 3
ClinVar
PMID:17436250 PMID:23883829 PMID:25741868
NCBI chr 8:57,091,002...57,282,471
Ensembl chr 8:58,816,840...58,945,186
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GREB1L
GREB1 like retinoic acid receptor coactivator
ISO
ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1
ClinVar
PMID:25741868
NCBI chr18:14,482,493...14,763,789
Ensembl chr18:18,244,575...18,400,335
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KIF7
kinesin family member 7
ISO
ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1
ClinVar
PMID:21552264 PMID:25741868 PMID:28492532
NCBI chr15:68,312,064...68,349,864
Ensembl chr15:87,529,290...87,553,445
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MAPK7
mitogen-activated protein kinase 7
ISO
ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1
ClinVar
PMID:28714182
NCBI chr17:31,729,429...31,736,216
Ensembl chr17:36,894,146...36,899,969
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MBTPS1
membrane bound transcription factor peptidase, site 1
ISO
MouseDO
NCBI chr16:64,719,971...64,783,119
Ensembl chr16:84,063,508...84,126,000
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PRMT5
protein arginine methyltransferase 5
ISO
MouseDO
NCBI chr14:3,737,741...3,746,646
Ensembl chr14:21,836,984...21,846,018
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PTPN11
protein tyrosine phosphatase non-receptor type 11
ISO
MouseDO
NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762
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RUNX3
RUNX family transcription factor 3
ISO
MouseDO
NCBI chr 1:24,097,321...24,164,065
Ensembl chr 1:25,073,134...25,137,335
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ASPN
asporin
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr 9:63,579,188...63,605,811
Ensembl chr 9:91,651,629...91,677,969
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BDNF
brain derived neurotrophic factor
ISO
mRNA:increased expression:intervertebral disc
RGD
PMID:37888810
RGD:405850252
NCBI chr11:27,618,322...27,687,661
Ensembl chr11:27,520,312...27,589,239
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CCR2
C-C motif chemokine receptor 2
ISO
mRNA,protein:increased expression:neuron,macrophage:
RGD
PMID:24462503
RGD:8661788
NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312
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CILP
cartilage intermediate layer protein
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr15:44,142,312...44,159,395
Ensembl chr15:62,425,780...62,441,214
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COL11A1
collagen type XI alpha 1 chain
ISO
ClinVar Annotator: match by term: Intervertebral disc disease | ClinVar Annotator: match by term: Lumbar disc herniation, susceptibility to
ClinVar OMIM
PMID:9536098 PMID:17576681 PMID:17999364 PMID:25741868 PMID:26377240 PMID:28492532 PMID:32381727 PMID:32578940 PMID:32756486 More...
NCBI chr 1:105,538,215...105,769,973
Ensembl chr 1:104,249,891...104,481,259
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COL1A1
collagen type I alpha 1 chain
no_association
ISO
DNA:polymorphism DNA:insertion
RGD
PMID:15994869 PMID:18694864
RGD:5688295 RGD:5688297
NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
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COL9A3
collagen type IX alpha 3 chain
susceptibility
ISO
ClinVar Annotator: match by term: Intervertebral disc disease | ClinVar Annotator: match by term: Intervertebral disc disease, susceptibility to
ClinVar OMIM
PMID:11308397 PMID:24273071 PMID:25741868 PMID:28492532 PMID:31090205 PMID:32483926 PMID:33570243 PMID:33633367 More...
NCBI chr20:59,203,959...59,229,221
Ensembl chr20:60,499,089...60,521,871
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GDNF
glial cell derived neurotrophic factor
ISO
mRNA:increased expression:intervertebral disc
RGD
PMID:37888810
RGD:405850252
NCBI chr 5:72,539,374...72,566,918
Ensembl chr 5:77,577,313...77,601,362
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HIF1A
hypoxia inducible factor 1 subunit alpha
ISO
protein:increased expression:dorsal root ganglion, neuron, cytoplasm (rat)
RGD
PMID:21243740
RGD:9068928
NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885
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THBS2
thrombospondin 2
susceptibility
ISO
ClinVar Annotator: match by term: Lumbar disc herniation, susceptibility to
ClinVar OMIM
PMID:18455130
NCBI chr 6:167,290,482...167,329,319
Ensembl chr 6:172,130,727...172,169,028
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AKT1
AKT serine/threonine kinase 1
disease_progression
ISO
RGD
PMID:21590431
RGD:5509092
NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756
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APOA4
apolipoprotein A4
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16372267
RGD:5685665
NCBI chr11:111,659,186...111,661,790
Ensembl chr11:115,591,788...115,594,382
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BDNF
brain derived neurotrophic factor
ISO
protein:increased expression:dorsal root ganglion:
RGD
PMID:14615047
RGD:8657329
NCBI chr11:27,618,322...27,687,661
Ensembl chr11:27,520,312...27,589,239
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COL11A1
collagen type XI alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17999364
NCBI chr 1:105,538,215...105,769,973
Ensembl chr 1:104,249,891...104,481,259
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CTSL
cathepsin L
ISO
protein:increased expression:annulus fibrosus (rat)
RGD
PMID:15758467
RGD:2315595
NCBI chr 9:58,851,899...58,857,170
Ensembl chr 9:86,903,006...86,908,303
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CX3CL1
C-X3-C motif chemokine ligand 1
ISO
mRNA, protein:increased expression:spinal cord
RGD
PMID:21224760
RGD:4891907
NCBI chr16:37,646,447...37,659,078
Ensembl chr16:56,779,065...56,791,760
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CX3CR1
C-X3-C motif chemokine receptor 1
ISO
protein:increased expression:spinal cord
RGD
PMID:21224760
RGD:4891907
NCBI chr 3:39,158,346...39,176,604
Ensembl chr 3:39,440,955...39,457,219
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GC
GC vitamin D binding protein
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:16868893
RGD:5509883
NCBI chr 4:52,431,196...52,473,762
Ensembl chr 4:58,729,236...58,792,073
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HIF1A
hypoxia inducible factor 1 subunit alpha
severity
ISO
RGD
PMID:33455530
RGD:407532702
NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885
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HTR2A
5-hydroxytryptamine receptor 2A
treatment
ISO
RGD
PMID:25584948
RGD:401938625
NCBI chr13:27,976,415...28,042,941
Ensembl chr13:46,694,273...46,759,826
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IGF1
insulin like growth factor 1
ISO
RGD
PMID:21037532
RGD:8549460
NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
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IL1RL1
interleukin 1 receptor like 1
ISO
protein:increased expression:spinal cord:
RGD
PMID:29329586
RGD:40400909
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IL33
interleukin 33
ISO
protein:increased expression:spinal cord:
RGD
PMID:29329586
RGD:40400909
NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624
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KMT2D
lysine methyltransferase 2D
severity
ISO
RGD
PMID:32599142
RGD:155598599
NCBI chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661
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TNF
tumor necrosis factor
ISO
RGD
PMID:24826482
RGD:10450584
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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TNFRSF1B
TNF receptor superfamily member 1B
ISO
human protein in rat model
RGD
PMID:21057386
RGD:5131270
NCBI chr 1:10,915,743...10,957,765
Ensembl chr 1:12,130,663...12,172,646
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SRD5A3
steroid 5 alpha-reductase 3
ISO
ClinVar Annotator: match by term: Kahrizi syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, CATARACT, COLOBOMA, AND KYPHOSIS, AUTOSOMAL RECESSIVE
OMIM ClinVar
PMID:18781183 PMID:20637498 PMID:20700148 PMID:20852264 PMID:22304929 PMID:24433453 PMID:25326635 PMID:25741868 PMID:27480077 PMID:28492532 PMID:28940310 PMID:31638560 PMID:32581362 More...
NCBI chr 4:68,565,400...68,591,400
Ensembl chr 4:75,131,196...75,155,347
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HOXA11
homeobox A11
ISO
mRNA:decreased expression:verterbra
RGD
PMID:18327665
RGD:11354896
NCBI chr 7:27,826,003...27,829,757
Ensembl chr 7:27,424,759...27,429,103
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HOXC10
homeobox C10
ISO
mRNA:decreased expression:verterbra
RGD
PMID:18327665
RGD:11354896
NCBI chr12:34,764,956...34,770,088
Ensembl chr12:35,553,262...35,558,393
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HOXD10
homeobox D10
ISO
mRNA:decreased expression:verterbra
RGD
PMID:18327665
RGD:11354896
NCBI chr2B:63,395,636...63,399,704
Ensembl chr2B:181,104,876...181,110,963
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HOXD11
homeobox D11
ISO
mRNA:decreased expression:verterbra
RGD
PMID:18327665
RGD:11354896
NCBI chr2B:63,386,806...63,398,777
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ELP1
elongator acetyltransferase complex subunit 1
ISO
RGD
PMID:11097445
RGD:5129159
NCBI chr 9:80,020,131...80,085,076
Ensembl chr 9:108,194,011...108,258,500
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FAM111B
FAM111 trypsin like peptidase B
ISO
ClinVar Annotator: match by term: Kyphosis
ClinVar
PMID:25741868
NCBI chr11:54,324,217...54,344,439
Ensembl chr11:57,779,138...57,795,819
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FKBP10
FKBP prolyl isomerase 10
ISO
ClinVar Annotator: match by term: Kyphosis
ClinVar
PMID:20362275 PMID:20839288 PMID:21567934 PMID:22689593 PMID:22949511 PMID:25741868 PMID:26538303 PMID:27509835 PMID:27717089 PMID:27762305 PMID:28492532 More...
NCBI chr17:15,490,667...15,500,894
Ensembl chr17:15,709,629...15,718,953
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LTBP3
latent transforming growth factor beta binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11790802
NCBI chr11:60,897,897...60,917,690
Ensembl chr11:64,233,504...64,252,802
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PARP1
poly(ADP-ribose) polymerase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20561897
NCBI chr 1:201,820,355...201,867,673
Ensembl chr 1:206,812,981...206,860,356
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PLOD1
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15666309
NCBI chr 1:10,684,608...10,725,376
Ensembl chr 1:11,900,881...11,941,308
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SLC26A2
solute carrier family 26 member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18925670
NCBI chr 5:145,385,433...145,412,180
Ensembl chr 5:151,391,842...151,412,676
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SLC39A13
solute carrier family 39 member 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18985159
NCBI chr11:47,356,465...47,364,710
Ensembl chr11:47,910,551...47,918,014
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ACAN
aggrecan
ISO
RGD
PMID:9192671
RGD:1300269
NCBI chr15:67,492,494...67,563,265
Ensembl chr15:86,733,853...86,771,420
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RIN2
Ras and Rab interactor 2
ISO
ClinVar Annotator: match by term: MACS SYNDROME | ClinVar Annotator: match by term: Macrocephaly, alopecia, cutis laxa, and scoliosis | ClinVar Annotator: match by term: RIN2-related condition | ClinVar Annotator: match by term: TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS
OMIM ClinVar
PMID:19631308 PMID:20424861 PMID:20954239 PMID:24449201 PMID:25741868 PMID:27277385 PMID:28492532 PMID:30769224 More...
NCBI chr20:19,716,071...19,960,598
Ensembl chr20:19,811,284...19,924,256
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TRPV4
transient receptor potential cation channel subfamily V member 4
ISO
ClinVar Annotator: match by term: Parastremmatic dwarfism
OMIM ClinVar
PMID:4056805 PMID:6628444 PMID:8179305 PMID:14755468 PMID:17879966 PMID:19232556 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20425821 PMID:20460441 PMID:20503319 PMID:20577006 PMID:21288981 PMID:21336783 PMID:21454511 PMID:21573172 PMID:21658220 PMID:22702953 PMID:24575025 PMID:24789864 PMID:24963089 PMID:25256292 PMID:25326637 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26170305 PMID:26249260 PMID:26377240 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27751652 PMID:28251916 PMID:28492532 PMID:28687525 PMID:29776788 PMID:29858556 PMID:30230566 PMID:30373780 PMID:32381727 PMID:34008892 PMID:39033378 More...
NCBI chr12:107,359,005...107,409,359
Ensembl chr12:110,754,238...110,786,182
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ACTA1
actin alpha 1, skeletal muscle
ISO
ClinVar Annotator: match by term: Congenital muscular dystrophy with rigid spine
ClinVar
PMID:25182138 PMID:27854218
NCBI chr 1:204,975,646...204,978,523
Ensembl chr 1:210,007,622...210,010,469
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HMGCS1
3-hydroxy-3-methylglutaryl-CoA synthase 1
ISO
ClinVar Annotator: match by term: Rigid spine syndrome
ClinVar
PMID:25741868
NCBI chr 5:67,067,001...67,091,786
Ensembl chr 5:72,116,228...72,141,050
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LDLRAP1
low density lipoprotein receptor adaptor protein 1
ISO
ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy
ClinVar
PMID:21131290 PMID:21670436 PMID:28492532
NCBI chr 1:24,809,535...24,852,394
Ensembl chr 1:25,878,358...25,903,336
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MAN1C1
mannosidase alpha class 1C member 1
ISO
ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy
ClinVar
PMID:21131290 PMID:21670436 PMID:28492532
NCBI chr 1:24,877,014...25,044,891
Ensembl chr 1:25,943,949...26,110,456
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RYR1
ryanodine receptor 1
ISO
ClinVar Annotator: match by term: Multi-minicore disease and atypical periodic paralysis | ClinVar Annotator: match by term: Multiminicore/minicore/multicore disease
ClinVar
PMID:17033962 PMID:18414213 PMID:20080402 PMID:21674524 PMID:21911697 PMID:22473935 PMID:23394784 PMID:23553787 PMID:23919265 PMID:24033266 PMID:24088041 PMID:24195946 PMID:24950660 PMID:24951453 PMID:25214167 PMID:25476234 PMID:25525159 PMID:25637381 PMID:25658027 PMID:25735680 PMID:25741868 PMID:25958340 PMID:25960145 PMID:26332594 PMID:26633545 PMID:27854218 PMID:28259615 PMID:28492532 PMID:28818389 PMID:30609409 PMID:30611313 PMID:31517061 PMID:31680349 PMID:32236737 PMID:33333461 PMID:34008892 PMID:35428369 PMID:36628841 More...
NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327
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SELENON
selenoprotein N
ISO
ClinVar Annotator: match by term: CONGENITAL MYOPATHY 3 WITH RIGID SPINE | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar Annotator: match by term: MYOPATHY, SEPN1-RELATED | ClinVar Annotator: match by term: SEPN1-related disorder
OMIM ClinVar
PMID:1219264 PMID:7224095 PMID:9536098 PMID:9585610 PMID:11079538 PMID:11528383 PMID:12192640 PMID:12207930 PMID:15122708 PMID:15668457 PMID:15792869 PMID:16199547 PMID:16365872 PMID:16498447 PMID:16779558 PMID:17204937 PMID:17365175 PMID:17576681 PMID:17951086 PMID:18313359 PMID:18414213 PMID:18713863 PMID:19067361 PMID:19285539 PMID:19557870 PMID:19763152 PMID:20301436 PMID:20307669 PMID:20623375 PMID:20937510 PMID:21131290 PMID:21520333 PMID:21670436 PMID:22406018 PMID:23394784 PMID:24033266 PMID:24988964 PMID:25182138 PMID:25525159 PMID:25635128 PMID:25640679 PMID:25741868 PMID:26467025 PMID:27066551 PMID:27447704 PMID:27863379 PMID:28357410 PMID:28492532 PMID:28558865 PMID:28688748 PMID:29172004 PMID:29382405 PMID:29669168 PMID:30612914 PMID:30642275 PMID:30921636 PMID:30932294 PMID:31127727 PMID:31321302 PMID:31561939 PMID:31847883 PMID:32140910 PMID:32154989 PMID:32528171 PMID:32746448 PMID:32796131 PMID:32860008 PMID:32864802 PMID:33037864 PMID:33184643 PMID:33333461 PMID:33652732 PMID:33762497 PMID:34867752 PMID:35368679 More...
NCBI chr 1:25,058,907...25,076,817
Ensembl chr 1:26,127,125...26,141,745
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CLEC3B
C-type lectin domain family 3 member B
ISO
OMIM:181440
MouseDO
NCBI chr 3:44,927,098...44,936,847
Ensembl chr 3:46,038,115...46,047,927
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NFIX
nuclear factor I X
ISO
OMIM:181440
MouseDO
NCBI chr19:12,557,020...12,660,316
Ensembl chr19:13,327,690...13,402,406
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ALOXE3
arachidonate epidermal lipoxygenase 3
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:25741868
NCBI chr17:43,539,657...43,562,433
Ensembl chr17:48,271,226...48,293,941
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CHD7
chromodomain helicase DNA binding protein 7
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:25741868
NCBI chr 8:57,091,002...57,282,471
Ensembl chr 8:58,816,840...58,945,186
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CHRNG
cholinergic receptor nicotinic gamma subunit
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:15704180 PMID:16826520 PMID:22167768 PMID:25741868 PMID:28492532 PMID:31680349 More...
NCBI chr2B:119,770,636...119,779,332
Ensembl chr2B:238,689,935...238,696,526
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CREBBP
CREB binding protein
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206
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DLL3
delta like canonical Notch ligand 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17849441
NCBI chr19:36,597,420...36,607,021
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ELP1
elongator acetyltransferase complex subunit 1
ISO
RGD
PMID:11097445
RGD:5129159
NCBI chr 9:80,020,131...80,085,076
Ensembl chr 9:108,194,011...108,258,500
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FBN1
fibrillin 1
ISO
ClinVar Annotator: match by term: Congenital scoliosis | ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:10464652 PMID:11700157 PMID:11933199 PMID:12203987 PMID:12203992 PMID:12938084 PMID:14695540 PMID:15241795 PMID:17627385 PMID:17657824 PMID:19159394 PMID:19293843 PMID:20301510 PMID:21907952 PMID:24033266 PMID:24161884 PMID:24833718 PMID:25741868 PMID:25907466 PMID:26333736 PMID:26787436 PMID:27146836 PMID:27274304 PMID:27611364 PMID:27724990 PMID:28492532 PMID:28855619 PMID:29357934 PMID:29875124 PMID:30311386 PMID:30675029 PMID:30739908 PMID:31098894 PMID:31211626 PMID:31751304 PMID:31950671 PMID:32679894 PMID:34498425 More...
NCBI chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111
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FBN2
fibrillin 2
ISO
DNA:frameshift mutation, missense mutations:exon:multiple
RGD
PMID:24833718
RGD:12910484
NCBI chr 5:123,673,209...123,953,741
Ensembl chr 5:129,435,248...129,715,711
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FGFR3
fibroblast growth factor receptor 3
ISO
MouseDO
NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692
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FLNA
filamin A
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr X:143,799,088...143,825,282
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FXR1
FMR1 autosomal homolog 1
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:25741868
NCBI chr 3:177,948,040...178,012,705
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GDF3
growth differentiation factor 3
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:19864492 PMID:25741868 PMID:28492532
NCBI chr12:7,813,288...7,819,418
Ensembl chr12:7,972,907...7,979,815
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GFAP
glial fibrillary acidic protein
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
NCBI chr17:12,407,211...12,417,072
Ensembl chr17:12,579,754...12,591,961
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HARS1
histidyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:25741868 PMID:28492532 PMID:32333447
NCBI chr 5:136,038,575...136,056,400
Ensembl chr 5:142,154,552...142,172,371
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HES7
hes family bHLH transcription factor 7
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:25741868
NCBI chr17:43,530,919...43,537,999
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JAG1
jagged canonical Notch ligand 1
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr20:10,582,234...10,618,507
Ensembl chr20:10,582,094...10,618,383
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KIF1B
kinesin family member 1B
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:25741868
NCBI chr 1:8,969,910...9,141,964
Ensembl chr 1:10,198,997...10,364,577 Ensembl chr 1:10,198,997...10,364,577
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MMP1
matrix metallopeptidase 1
ISO
protein:increased expression:intervertebral disc (rat)
RGD
PMID:21554726
RGD:7207288
NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104
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MYF5
myogenic factor 5
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:10844060 PMID:29887215
NCBI chr12:78,236,945...78,239,701
Ensembl chr12:81,347,324...81,350,389
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NOTCH1
notch receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17849441
NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740
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POC5
POC5 centriolar protein
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:25642776 PMID:25741868 PMID:28492532
NCBI chr 5:39,587,659...39,631,472
Ensembl chr 5:40,205,697...40,244,182
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PTPN11
protein tyrosine phosphatase non-receptor type 11
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:11992261 PMID:15121796 PMID:17339163 PMID:17875892 PMID:18241070 PMID:20301557 PMID:21533187 PMID:24033266 PMID:24935154 PMID:25741868 PMID:28492532 More...
NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762
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RAB5IF
RAB5 interacting factor
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:24194475 PMID:35614220
NCBI chr20:32,938,953...32,945,648
Ensembl chr20:34,059,109...34,065,624
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RYR1
ryanodine receptor 1
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:17483490 PMID:18253926 PMID:19191329 PMID:19645060 PMID:21062345 PMID:22473935 PMID:23069638 PMID:23394784 PMID:23553787 PMID:23919265 PMID:24033266 PMID:24091937 PMID:25741868 PMID:27447704 PMID:28492532 PMID:30236257 PMID:32899693 PMID:34106991 PMID:35849058 More...
NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327
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SH3TC2
SH3 domain and tetratricopeptide repeats 2
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:20220177 PMID:20301641 PMID:21291453 PMID:22950825 PMID:23806086 PMID:25741868 PMID:26392352 PMID:26467025 PMID:26794302 PMID:28492532 PMID:28518168 PMID:32461654 PMID:37091313 More...
NCBI chr 5:144,412,449...144,490,183
Ensembl chr 5:150,438,976...150,498,354
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SOX3
SRY-box transcription factor 3
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:23757202 PMID:25741868 PMID:28492532
NCBI chr X:129,654,296...129,656,446
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TBX6
T-box transcription factor 6
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:25564734 PMID:25741868 PMID:28054739 PMID:28492532 PMID:31015262 PMID:31471994 More...
Ensembl chr16:30,460,305...30,467,070
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TMCO1
transmembrane and coiled-coil domains 1
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227
NCBI chr 1:141,159,657...141,201,018
Ensembl chr 1:144,944,105...144,989,794
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TPH1
tryptophan hydroxylase 1
no_association
ISO
DNA:SNPs:multiple DNA:SNP:promoter: (rs10488682) (human)
RGD
PMID:18794762 PMID:21192222 PMID:21308753
RGD:5686347 RGD:5686348 RGD:5686349
NCBI chr11:18,070,576...18,099,539
Ensembl chr11:17,754,893...17,778,076
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EXT2
exostosin glycosyltransferase 2
ISO
ClinVar Annotator: match by term: Seizures, scoliosis, and macrocephaly syndrome
OMIM ClinVar
PMID:9326317 PMID:10679937 PMID:10713884 PMID:10750558 PMID:11432960 PMID:12490068 PMID:16199547 PMID:16283885 PMID:17041877 PMID:17589361 PMID:18165274 PMID:19344451 PMID:19810120 PMID:23262345 PMID:23439489 PMID:24728327 PMID:25741868 PMID:28492532 PMID:30075207 PMID:30288735 PMID:30997052 PMID:34092239 More...
NCBI chr11:44,055,670...44,204,055
Ensembl chr11:44,522,797...44,699,447
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SLC10A7
solute carrier family 10 member 7
ISO
ClinVar Annotator: match by term: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
OMIM ClinVar
PMID:25741868 PMID:29878199 PMID:30082715
NCBI chr 4:138,592,266...138,857,833
Ensembl chr 4:150,251,966...150,510,812
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IFT122
intraflagellar transport 122
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20493458
NCBI chr 3:126,498,018...126,578,211
Ensembl chr 3:133,851,433...133,930,117
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FLNB
filamin B
ISO
ClinVar Annotator: match by term: Scoliosis, congenital with unilateral unsegmented bar | ClinVar Annotator: match by term: Spondylocarpotarsal synostosis syndrome
OMIM ClinVar
PMID:14991055 PMID:18257094 PMID:18322662 PMID:18386804 PMID:20301736 PMID:25741868 PMID:26380986 PMID:28492532 PMID:29566257 More...
NCBI chr 3:57,943,263...58,107,115
Ensembl chr 3:59,359,234...59,521,989
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MYH3
myosin heavy chain 3
ISO
ClinVar Annotator: match by term: Scoliosis, congenital with unilateral unsegmented bar | ClinVar Annotator: match by term: Spondylocarpotarsal synostosis syndrome
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29805041 PMID:32902138 PMID:33726816 PMID:34204301 PMID:34440395 PMID:35169139 More...
NCBI chr17:40,974,636...41,025,511
Ensembl chr17:45,746,301...45,772,735
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SLC26A2
solute carrier family 26 member 2
ISO
DNA:mutations:cds:c.2286A>T(p.D673V), c.1922A>G(p.H641R),g.18654T>C(human)
RGD
PMID:26077908
RGD:13208868
NCBI chr 5:145,385,433...145,412,180
Ensembl chr 5:151,391,842...151,412,676
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KL
klotho
susceptibility
ISO
RGD
PMID:12110410
RGD:10403053
NCBI chr13:14,272,463...14,321,122
Ensembl chr13:32,702,336...32,751,458
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ZNF407
zinc finger protein 407
ISO
ClinVar Annotator: match by term: Radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation
ClinVar
PMID:25741868
NCBI chr18:67,985,750...68,451,774
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