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.
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Aloxe3
arachidonate epidermal lipoxygenase 3
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:25741868
NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
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Chd7
chromodomain helicase DNA binding protein 7
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:25741868
NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
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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 chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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Dll3
delta like canonical Notch ligand 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17849441
NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750
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Elp1
elongator acetyltransferase complex subunit 1
ISO
RGD
PMID:11097445
RGD:5129159
NCBI chr 5:71,453,338...71,505,833
Ensembl chr 5:71,456,310...71,505,762
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Fbn1
fibrillin 1
ISO
DNA:missense mutations:exon:multiple ClinVar Annotator: match by term: Congenital scoliosis | ClinVar Annotator: match by term: Scoliosis
ClinVar RGD
PMID:10464652 PMID:11700157 PMID:11933199 PMID:12203987 PMID:12203992 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 PMID:24833718 More...
RGD:12910484
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Fbn2
fibrillin 2
ISO
DNA:frameshift mutation, missense mutations:exon:multiple
RGD
PMID:24833718
RGD:12910484
NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976
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Fgfr3
fibroblast growth factor receptor 3
ISS
MouseDO
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Flna
filamin A
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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Fxr1
FMR1 autosomal homolog 1
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:25741868
NCBI chr 2:116,884,167...116,937,590
Ensembl chr 2:116,884,248...116,937,590
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Gdf3
growth differentiation factor 3
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:19864492 PMID:25741868 PMID:28492532
NCBI chr 4:155,831,572...155,835,953
Ensembl chr 4:155,830,909...155,835,937
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Gfap
glial fibrillary acidic protein
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589
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Hars1
histidyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:25741868 PMID:28492532 PMID:32333447
NCBI chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740
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Hes7
hes family bHLH transcription factor 7
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:25741868
NCBI chr10:53,824,124...53,828,934
Ensembl chr10:53,825,574...53,828,097
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Jag1
jagged canonical Notch ligand 1
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209
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Kif1b
kinesin family member 1B
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:25741868
NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778
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Mmp1
matrix metallopeptidase 1
IEP
protein:increased expression:intervertebral disc (rat)
RGD
PMID:21554726
RGD:7207288
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Myf5
myogenic factor 5
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:10844060 PMID:29887215
NCBI chr 7:42,802,946...42,806,177
Ensembl chr 7:42,802,946...42,806,177
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Notch1
notch receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17849441
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Poc5
POC5 centriolar protein
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:25642776 PMID:25741868 PMID:28492532
NCBI chr 2:27,719,745...27,748,805
Ensembl chr 2:27,719,762...27,748,805
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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 chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Rab5if
RAB5 interacting factor
ISO
ClinVar Annotator: match by term: Scoliosis
ClinVar
PMID:24194475 PMID:35614220
NCBI chr 3:145,357,990...145,368,012
Ensembl chr 3:145,357,861...145,368,012
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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 chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
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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 chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083
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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:139,308,608...139,310,687
Ensembl chr X:139,309,329...139,310,678
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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...
NCBI chr 1:181,387,851...181,392,762
Ensembl chr 1:181,388,684...181,392,593
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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 chr13:79,460,229...79,483,557
Ensembl chr13:79,460,135...79,483,555
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Tph1
tryptophan hydroxylase 1
no_association
ISO
DNA:SNP:promoter: (rs10488682) (human) DNA:SNPs:multiple
RGD
PMID:18794762 PMID:21308753 PMID:21192222
RGD:5686347 , RGD:5686349 , RGD:5686348
NCBI chr 1:97,157,375...97,178,415
Ensembl chr 1:97,157,409...97,178,344
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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 5:35,220,815...35,232,866
Ensembl chr 5:35,225,435...35,232,881
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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 5:151,996,368...152,098,023
Ensembl chr 5:151,999,092...152,097,979
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Aqp1
aquaporin 1
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2
ClinVar
PMID:28492532
NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690
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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 4:84,222,897...84,265,924
Ensembl chr 4:84,224,002...84,265,904
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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 4:83,705,531...83,721,515
Ensembl chr 4:83,705,652...83,721,528
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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 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609
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Ggct
gamma-glutamyl cyclotransferase
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2
ClinVar
PMID:28492532
NCBI chr 4:84,122,921...84,129,327
Ensembl chr 4:84,123,118...84,129,277
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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 4:84,498,159...84,532,851
Ensembl chr 4:84,500,212...84,532,776
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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 4:84,318,197...84,322,493
Ensembl chr 4:84,318,197...84,322,493
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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 4:84,358,660...84,469,189
Ensembl chr 4:84,358,902...84,463,395
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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 4:83,807,528...83,828,494
Ensembl chr 4:83,807,579...83,824,950
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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 4:84,060,871...84,111,668
Ensembl chr 4:84,060,880...84,111,404
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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 4:83,723,470...83,774,081
Ensembl chr 4:83,723,561...83,774,081
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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 4:83,950,406...84,032,676
Ensembl chr 4:83,949,309...84,027,818
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Dcc
DCC netrin 1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28250456
NCBI chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740
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Robo3
roundabout guidance receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315
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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 chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315
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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 chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740
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Adgrg6
adhesion G protein-coupled receptor G6
ISS
MouseDO
NCBI chr 1:8,812,889...8,954,239
Ensembl chr 1:8,812,904...8,954,123
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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 2:196,029,206...196,053,848
Ensembl chr 2:196,029,434...196,053,845
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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 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
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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 chr18:1,392,330...1,629,483
Ensembl chr18:1,392,725...1,628,067
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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 chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
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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 chr10:46,170,264...46,176,262
Ensembl chr10:46,170,167...46,176,267
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Mbtps1
membrane-bound transcription factor peptidase, site 1
ISS
MouseDO
NCBI chr19:47,561,598...47,612,769
Ensembl chr19:47,561,598...47,612,791
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Prmt5
protein arginine methyltransferase 5
ISS
MouseDO
NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISS
MouseDO
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Runx3
RUNX family transcription factor 3
ISS
MouseDO
NCBI chr 5:147,360,587...147,419,161
Ensembl chr 5:147,360,994...147,419,156
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Hoxa11
homeobox A11
IEP
mRNA:decreased expression:verterbra
RGD
PMID:18327665
RGD:11354896
NCBI chr 4:81,342,527...81,346,189
Ensembl chr 4:81,342,528...81,346,232
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Hoxc10
homeo box C10
IEP
mRNA:decreased expression:verterbra
RGD
PMID:18327665
RGD:11354896
NCBI chr 7:134,103,741...134,108,966
Ensembl chr 7:134,103,643...134,108,966
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Hoxd10
homeo box D10
IEP
mRNA:decreased expression:verterbra
RGD
PMID:18327665
RGD:11354896
NCBI chr 3:59,594,516...59,597,725
Ensembl chr 3:59,594,516...59,597,725
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Hoxd11
homeobox D11
IEP
mRNA:decreased expression:verterbra
RGD
PMID:18327665
RGD:11354896
NCBI chr 3:59,584,840...59,587,257
Ensembl chr 3:59,585,039...59,586,783
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Rin2
Ras and Rab interactor 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: MACS SYNDROME | ClinVar Annotator: match by term: Macrocephaly, alopecia, cutis laxa, and scoliosis | ClinVar Annotator: match by term: RIN2-related condition | ClinVar Annotator: match by term: TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS
OMIM CTD ClinVar
PMID:19631308 PMID:20424861 PMID:20954239 PMID:24449201 PMID:25741868 PMID:27277385 PMID:28492532 PMID:30769224 More...
NCBI chr 3:133,086,858...133,303,604
Ensembl chr 3:133,086,749...133,303,604
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Trpv4
transient receptor potential cation channel, subfamily V, member 4
ISO
ClinVar Annotator: match by term: Parastremmatic dwarfism CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:4056805 PMID:6628444 PMID:8179305 PMID:14755468 PMID:17879966 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 chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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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 chr19:51,883,709...51,886,735
Ensembl chr19:51,883,715...51,886,742
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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 2:51,649,368...51,667,100
Ensembl chr 2:51,649,497...51,667,100
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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 5:146,955,607...146,978,601
Ensembl chr 5:146,955,607...146,978,601
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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 5:146,774,282...146,913,257
Ensembl chr 5:146,775,842...146,913,421
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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 chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
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Selenon
selenoprotein N
ISO ISS
DNA:frameshift mutations, missense mutations, nonsense mutation:cds:multiple (human) ClinVar Annotator: match by term: CONGENITAL MYOPATHY 3 WITH RIGID SPINE | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar Annotator: match by term: MYOPATHY, SEPN1-RELATED | ClinVar Annotator: match by term: SEPN1-related disorder OMIM:602771 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
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 PMID:11528383 More...
RGD:1599352
NCBI chr 5:146,748,638...146,764,656
Ensembl chr 5:146,748,652...146,763,059
G
Ext2
exostosin glycosyltransferase 2
ISO
ClinVar Annotator: match by term: Seizures, scoliosis, and macrocephaly syndrome
OMIM ClinVar
PMID:9326317 PMID:10679937 PMID:10713884 PMID:10750558 PMID:11432960 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 chr 3:79,665,414...79,798,077
Ensembl chr 3:79,665,415...79,798,059
G
Slc10a7
solute carrier family 10, member 7
ISO
ClinVar Annotator: match by term: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
OMIM ClinVar
PMID:25741868 PMID:29878199 PMID:30082715
NCBI chr19:29,183,143...29,407,470
Ensembl chr19:29,183,155...29,407,464
G
Flnb
filamin B
ISO ISS
OMIM:272460 ClinVar Annotator: match by term: Scoliosis, congenital with unilateral unsegmented bar | ClinVar Annotator: match by term: Spondylocarpotarsal synostosis syndrome CTD Direct Evidence: marker/mechanism
OMIM MouseDO ClinVar CTD RGD
PMID:14991055 PMID:18257094 PMID:18322662 PMID:18386804 PMID:20301736 PMID:25741868 PMID:26380986 PMID:28492532 PMID:29566257 PMID:17635842 More...
RGD:12791028
NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006
G
Myh3
myosin heavy chain 3
ISO
ClinVar Annotator: match by term: Scoliosis, congenital with unilateral unsegmented bar | ClinVar Annotator: match by term: Spondylocarpotarsal synostosis syndrome
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29805041 PMID:32902138 PMID:33726816 PMID:34204301 PMID:34440395 PMID:35169139 More...
NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
G
Zfp407
zinc finger protein 407
ISO
ClinVar Annotator: match by term: Radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation
ClinVar
PMID:25741868
NCBI chr18:77,571,140...77,970,282
Ensembl chr18:77,571,204...77,974,129
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
19100
disease of anatomical entity
18440
musculoskeletal system disease
8492
bone disease
4413
bone structure disease
132
scoliosis
69
Acrodysplasia Scoliosis
0
CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM
1
Cervical Hypertrichosis with Underlying Kyphoscoliosis
0
Coffin Syndrome 1
0
Daish Hardman Lamont Syndrome
0
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation
0
Familial Horizontal Gaze Palsy with Progressive Scoliosis +
2
Iida Kannari Syndrome
0
Kyphoscoliosis +
16
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis
1
Omphalocele Exstrophy Imperforate Anus
0
Pilotto Syndrome
0
Prata Libéral Gonçalves Syndrome
0
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa
0
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME
1
Scoliosis, Arachnodactyly, and Blindness
0
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis
1
Shprintzen Omphalocele Syndrome
0
Tsukahara Syndrome
1
Waaler Aarskog Syndrome
0
congenital myopathy 19
1
idiopathic scoliosis
10
parastremmatic dwarfism
1
rigid spine muscular dystrophy 1
6
spondylocarpotarsal synostosis syndrome
2
Path 2
disease
19100
disease of anatomical entity
18440
musculoskeletal system disease
8492
connective tissue disease
5960
bone disease
4413
spinal disease
1147
Spinal Curvatures
83
scoliosis
69
Acrodysplasia Scoliosis
0
CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM
1
Cervical Hypertrichosis with Underlying Kyphoscoliosis
0
Coffin Syndrome 1
0
Daish Hardman Lamont Syndrome
0
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation
0
Familial Horizontal Gaze Palsy with Progressive Scoliosis +
2
Iida Kannari Syndrome
0
Kyphoscoliosis +
16
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis
1
Omphalocele Exstrophy Imperforate Anus
0
Pilotto Syndrome
0
Prata Libéral Gonçalves Syndrome
0
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa
0
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME
1
Scoliosis, Arachnodactyly, and Blindness
0
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis
1
Shprintzen Omphalocele Syndrome
0
Tsukahara Syndrome
1
Waaler Aarskog Syndrome
0
congenital myopathy 19
1
idiopathic scoliosis
10
parastremmatic dwarfism
1
rigid spine muscular dystrophy 1
6
spondylocarpotarsal synostosis syndrome
2