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.
|
|
G |
Bmp4 |
bone morphogenetic protein 4 |
treatment |
ISO |
|
RGD |
PMID:16447218 |
RGD:8699518 |
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
|
|
G |
Col11a2 |
collagen type XI alpha 2 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11668593 |
|
NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985
|
|
G |
Col2a1 |
collagen type II alpha 1 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27028940 |
|
NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
|
|
G |
Edn1 |
endothelin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20707411 |
|
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
|
|
G |
Fgf14 |
fibroblast growth factor 14 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11241832 |
|
NCBI chr15:101,045,033...101,679,888
Ensembl chr15:101,045,036...101,679,900
|
|
G |
Gata2 |
GATA binding protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20707411 |
|
NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761
|
|
G |
Mmp3 |
matrix metallopeptidase 3 |
|
IEP |
mRNA:increased expression:articular cartilage |
RGD |
PMID:20153826 |
RGD:2325860 |
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
|
|
G |
Mt2A |
metallothionein 2A |
|
ISO |
Auricular Chondritis; mRNA:increased expression:ear (mouse) |
RGD |
PMID:17606507 |
RGD:6483833 |
NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784
|
|
G |
Nppc |
natriuretic peptide C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17676597 |
|
NCBI chr 9:87,320,051...87,324,251
Ensembl chr 9:87,320,051...87,324,251
|
|
|
G |
Lmbr1 |
limb development membrane protein 1 |
|
ISO ISS |
OMIM:200500 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acheiropodia |
OMIM MouseDO CTD ClinVar |
PMID:11090342 PMID:33863876 |
|
NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368
|
|
|
G |
Slc26a2 |
solute carrier family 26 member 2 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis |
ClinVar |
|
|
NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
|
|
G |
Trip11 |
thyroid hormone receptor interactor 11 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis |
ClinVar |
|
|
NCBI chr 6:120,995,242...121,067,693
Ensembl chr 6:120,998,733...121,067,781
|
|
|
G |
Asb2 |
ankyrin repeat and SOCS box-containing 2 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:122,474,754...122,511,014
Ensembl chr 6:122,474,756...122,510,854
|
|
G |
Atxn3 |
ataxin 3 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:121,072,228...121,107,902
Ensembl chr 6:121,074,448...121,107,902
|
|
G |
Btbd7 |
BTB domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:121,920,365...122,010,114
Ensembl chr 6:121,923,023...121,972,405
|
|
G |
Calm1 |
calmodulin 1 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:119,487,691...119,495,759
Ensembl chr 6:119,487,621...119,498,227
|
|
G |
Catsperb |
cation channel sperm associated auxiliary subunit beta |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:120,418,606...120,713,160
Ensembl chr 6:120,418,609...120,707,182
|
|
G |
Ccdc88c |
coiled-coil domain containing 88C |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:120,169,752...120,289,459
Ensembl chr 6:120,169,738...120,289,555
|
|
G |
Chga |
chromogranin A |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:121,696,051...121,707,399
Ensembl chr 6:121,696,051...121,707,398
|
|
G |
Cox8c |
cytochrome c oxidase subunit 8C |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:122,028,566...122,029,889
Ensembl chr 6:122,028,566...122,029,889
|
|
G |
Cpsf2 |
cleavage and polyadenylation specific factor 2 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:121,123,941...121,152,756
Ensembl chr 6:121,120,569...121,151,921
|
|
G |
Ddx24 |
DEAD-box helicase 24 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:122,564,767...122,582,032
Ensembl chr 6:122,564,767...122,581,927
|
|
G |
Dglucy |
D-glutamate cyclase |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:120,055,480...120,130,910
Ensembl chr 6:120,055,460...120,130,910
|
|
G |
Fam181a |
family with sequence similarity 181, member A |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:122,465,373...122,471,397
Ensembl chr 6:122,465,391...122,471,397
|
|
G |
Fbln5 |
fibulin 5 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755
|
|
G |
Golga5 |
golgin A5 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:121,612,389...121,640,552
Ensembl chr 6:121,612,529...121,640,413
|
|
G |
Gon7 |
GON7 subunit of KEOPS complex |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:121,882,565...121,898,452
Ensembl chr 6:121,885,694...121,898,643 Ensembl chr 6:121,885,694...121,898,643
|
|
G |
Gpr68 |
G protein-coupled receptor 68 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:120,135,620...120,166,089
Ensembl chr 6:120,135,436...120,166,089
|
|
G |
Ifi27 |
interferon, alpha-inducible protein 27 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:122,590,461...122,596,996
Ensembl chr 6:122,590,472...122,779,294
|
|
G |
Ifi27l2a |
interferon, alpha-inducible protein 27 like 2A |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:122,598,872...122,600,358
Ensembl chr 6:122,598,872...122,600,360
|
|
G |
Itpk1 |
inositol-tetrakisphosphate 1-kinase |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:121,710,750...121,844,501
Ensembl chr 6:121,710,755...121,844,107
|
|
G |
Kcnk13 |
potassium two pore domain channel subfamily K member 13 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:119,240,825...119,345,292
Ensembl chr 6:119,242,188...119,345,240
|
|
G |
Lgmn |
legumain |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:121,544,048...121,582,495
Ensembl chr 6:121,544,053...121,582,480
|
|
G |
Lyset |
lysosomal enzyme trafficking factor |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:121,884,577...121,886,319
Ensembl chr 6:121,884,643...121,886,275
|
|
G |
Moap1 |
modulator of apoptosis 1 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:121,882,565...121,884,500
Ensembl chr 6:121,882,366...121,898,643
|
|
G |
Ndufb1 |
NADH:ubiquinone oxidoreductase subunit B1 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:121,115,649...121,124,055
|
|
G |
Nrde2 |
NRDE-2, necessary for RNA interference, domain containing |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:119,405,103...119,446,861
Ensembl chr 6:119,404,334...119,448,915
|
|
G |
Otub2 |
OTU deubiquitinase, ubiquitin aldehyde binding 2 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:122,545,067...122,563,657
Ensembl chr 6:122,545,061...122,563,644
|
|
G |
Ppp4r3a |
protein phosphatase 4, regulatory subunit 3A |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:120,302,508...120,365,907
Ensembl chr 6:120,302,511...120,365,891
|
|
G |
Ppp4r4 |
protein phosphatase 4, regulatory subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:122,663,172...122,753,988
Ensembl chr 6:122,663,344...122,753,384
|
|
G |
Prima1 |
proline rich membrane anchor 1 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:122,338,365...122,390,955
Ensembl chr 6:122,338,370...122,389,921
|
|
G |
Psmc1 |
proteasome 26S subunit, ATPase 1 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:119,392,833...119,405,233
Ensembl chr 6:119,392,855...119,410,123
|
|
G |
Rin3 |
Ras and Rab interactor 3 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:121,431,776...121,540,956
Ensembl chr 6:121,431,339...121,540,957
|
|
G |
Rps6ka5 |
ribosomal protein S6 kinase A5 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:119,828,823...120,006,190
Ensembl chr 6:119,828,846...120,006,224
|
|
G |
Serpina1 |
serpin family A member 1 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
|
|
G |
Serpina10 |
serpin family A member 10 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:122,756,106...122,764,544
Ensembl chr 6:122,756,108...122,764,544
|
|
G |
Serpina1f |
serpin family A member 1F |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:122,820,752...122,827,112
Ensembl chr 6:122,820,907...122,827,112
|
|
G |
Serpina6 |
serpin family A member 6 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:122,780,040...122,790,274
Ensembl chr 6:122,780,043...122,790,349
|
|
G |
Slc24a4 |
solute carrier family 24 member 4 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:121,279,590...121,419,811
Ensembl chr 6:121,280,031...121,414,949
|
|
G |
Tc2n |
tandem C2 domains, nuclear |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:120,761,112...120,856,835
Ensembl chr 6:120,761,119...120,849,326
|
|
G |
Tdp1 |
tyrosyl-DNA phosphodiesterase 1 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:119,163,192...119,231,029
Ensembl chr 6:119,163,166...119,231,021
|
|
G |
Trip11 |
thyroid hormone receptor interactor 11 |
|
ISO ISS |
ClinVar Annotator: match by term: Achondrogenesis Houston-Harris type | ClinVar Annotator: match by term: Achondrogenesis type 1A | ClinVar Annotator: match by term: Achondrogenesis, type IA OMIM:200600 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:200899 PMID:2008997 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20089971 PMID:20307669 PMID:22406018 PMID:23956106 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28600779 PMID:29620724 PMID:29872333 PMID:30609409 PMID:30728324 PMID:31903676 PMID:33578785 PMID:34057271 More...
|
|
NCBI chr 6:120,995,242...121,067,693
Ensembl chr 6:120,998,733...121,067,781
|
|
G |
Ttc7b |
tetratricopeptide repeat domain 7B |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:119,587,389...119,799,167
Ensembl chr 6:119,587,390...119,799,330
|
|
G |
Ubr7 |
ubiquitin protein ligase E3 component n-recognin 7 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:121,898,613...121,918,480
Ensembl chr 6:121,898,623...121,918,477
|
|
G |
Unc79 |
unc-79 homolog, NALCN channel complex subunit |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:122,082,369...122,327,641
Ensembl chr 6:122,080,308...122,327,591
|
|
|
G |
Slc26a2 |
solute carrier family 26 member 2 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis Fraccaro type | ClinVar Annotator: match by term: Achondrogenesis, type IB CTD Direct Evidence: marker/mechanism DNA:mutations:cds: |
OMIM ClinVar CTD RGD |
PMID:4644462 PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 PMID:8702127 PMID:8723100 PMID:8931695 PMID:9342225 PMID:9536098 PMID:10465113 PMID:10482955 PMID:11241838 PMID:11303514 PMID:11448940 PMID:11558903 PMID:11565064 PMID:11727031 PMID:12525546 PMID:12966518 PMID:15294877 PMID:15316973 PMID:15720248 PMID:16642506 PMID:17393463 PMID:17576681 PMID:18708426 PMID:18925670 PMID:19344236 PMID:19763152 PMID:20219950 PMID:20301483 PMID:20301493 PMID:20301524 PMID:20307669 PMID:20525296 PMID:20592910 PMID:20981092 PMID:21077202 PMID:21077204 PMID:21155763 PMID:21228398 PMID:21922596 PMID:22052783 PMID:22406018 PMID:23369989 PMID:23840040 PMID:24033266 PMID:24598000 PMID:25741868 PMID:26077908 PMID:27065010 PMID:28492532 PMID:29024831 PMID:30423444 PMID:30462520 PMID:31880411 PMID:32295296 PMID:32619261 PMID:33728303 PMID:34064542 PMID:34094714 PMID:34557487 PMID:34627339 PMID:34958143 PMID:8528239 More...
|
RGD:11068488 |
NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
|
|
|
G |
Col2a1 |
collagen type II alpha 1 chain |
|
ISO ISS |
ClinVar Annotator: match by term: Achondrogenesis type II | ClinVar Annotator: match by term: Chondrogenesis imperfecta OMIM:200610 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:7695699 PMID:7741714 PMID:7752132 PMID:7757081 PMID:7829510 PMID:7977371 PMID:8024616 PMID:8218237 PMID:8244341 PMID:8325895 PMID:8702139 PMID:8893763 PMID:9016532 PMID:9101290 PMID:9536098 PMID:10612821 PMID:10797431 PMID:10982970 PMID:11007540 PMID:12429249 PMID:12544472 PMID:12939326 PMID:15054848 PMID:15895462 PMID:16199547 PMID:16752401 PMID:16755660 PMID:17078022 PMID:17347327 PMID:17576681 PMID:17726487 PMID:17994563 PMID:18272325 PMID:18276201 PMID:18553548 PMID:19344236 PMID:19764028 PMID:20179744 PMID:20301479 PMID:20513134 PMID:21472893 PMID:21924244 PMID:22496037 PMID:22522174 PMID:23592912 PMID:24736929 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25735649 PMID:25741868 PMID:25741869 PMID:26037341 PMID:26377240 PMID:26443184 PMID:26467025 PMID:26626311 PMID:26747767 PMID:27234559 PMID:27390512 PMID:28492532 PMID:28559085 PMID:28738883 PMID:29453956 PMID:29620724 PMID:30138938 PMID:30181686 PMID:30792901 PMID:31755234 PMID:32071555 PMID:32756486 PMID:33249554 PMID:34394176 PMID:34529350 PMID:34573377 More...
|
|
NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
|
|
|
G |
Acan |
aggrecan |
|
ISS |
OMIM:100800 |
MouseDO |
|
|
NCBI chr 1:132,981,582...133,044,416
Ensembl chr 1:132,981,582...133,043,627
|
|
G |
Fbn1 |
fibrillin 1 |
|
ISO |
ClinVar Annotator: match by term: Achondroplasia |
ClinVar |
PMID:16571647 PMID:16905551 PMID:17701892 PMID:19349279 PMID:25741868 PMID:28492532 PMID:28855619 More...
|
|
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
|
|
G |
Fgfr3 |
fibroblast growth factor receptor 3 |
severity |
ISO ISS |
DNA:missense mutation:cds:p.G380R (human) ClinVar Annotator: match by term: Achondroplasia | ClinVar Annotator: match by term: Skeleton skin brain syndrome OMIM:100800 CTD Direct Evidence: marker/mechanism DNA:mutation:cds:p.K650M(human) |
ClinVar MouseDO CTD OMIM RGD |
PMID:1908846 PMID:4697848 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7758520 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589686 PMID:8589699 PMID:8599370 PMID:8640234 PMID:8673103 PMID:8723101 PMID:8723106 PMID:8841188 PMID:8845844 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:9790257 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:10587515 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10777366 PMID:10861678 PMID:10893668 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11754059 PMID:11879084 PMID:12009017 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:18076102 PMID:18198189 PMID:18266238 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:22529939 PMID:22622662 PMID:22628360 PMID:23045425 PMID:23056398 PMID:23149434 PMID:23165795 PMID:23573386 PMID:23972473 PMID:24715719 PMID:24728327 PMID:24863959 PMID:25157968 PMID:25271085 PMID:25505835 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25777271 PMID:25809207 PMID:26126848 PMID:26220993 PMID:26380986 PMID:26467025 PMID:26619011 PMID:26740388 PMID:26818779 PMID:26887047 PMID:26992226 PMID:28230213 PMID:28454995 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29620724 PMID:29681095 PMID:29758562 PMID:30138938 PMID:30160829 PMID:30355600 PMID:30692697 PMID:31130284 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:33942288 PMID:36135330 PMID:36373817 PMID:36474027 PMID:36714562 PMID:8078586 PMID:10377013 More...
|
RGD:1598937, RGD:11568054 |
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
|
|
G |
Nppc |
natriuretic peptide C |
|
ISS |
OMIM:100800 |
MouseDO |
|
|
NCBI chr 9:87,320,051...87,324,251
Ensembl chr 9:87,320,051...87,324,251
|
|
G |
Npr2 |
natriuretic peptide receptor 2 |
|
ISO ISS |
DNA:missense mutation:cds:p.L885R (mouse) OMIM:100800 |
MouseDO RGD |
PMID:15722353 |
RGD:1580771 |
NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
|
|
G |
Pthlh |
parathyroid hormone-like hormone |
|
ISS |
OMIM:100800 |
MouseDO |
|
|
NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847
|
|
G |
Spred2 |
sprouty-related, EVH1 domain containing 2 |
|
ISS |
OMIM:100800 |
MouseDO |
|
|
NCBI chr14:94,149,210...94,250,787
Ensembl chr14:94,148,837...94,249,162
|
|
|
G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Achondroplastic dwarfism |
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:8845844 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:9790257 PMID:9842995 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10215410 PMID:10360392 PMID:10360393 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:11424131 PMID:11529856 PMID:11746040 PMID:11879084 PMID:12009017 PMID:12707965 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15915095 PMID:16766665 PMID:16841094 PMID:17256796 PMID:17384684 PMID:17509076 PMID:17526800 PMID:17552943 PMID:17875876 PMID:18076102 PMID:18266238 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:23045425 PMID:23056398 PMID:23165795 PMID:23573386 PMID:23972473 PMID:24728327 PMID:24863959 PMID:25157968 PMID:25271085 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25809207 PMID:26220993 PMID:26619011 PMID:26740388 PMID:26818779 PMID:26992226 PMID:28230213 PMID:28454995 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29620724 PMID:29681095 PMID:29758562 PMID:30138938 PMID:30355600 PMID:30692697 PMID:31130284 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:33942288 PMID:36135330 PMID:36474027 More...
|
|
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
|
|
|
G |
Ihh |
Indian hedgehog signaling molecule |
|
ISO |
DNA:point mutations:CDS:p.P46L (137C>T), p.V190A (T569T>C) (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acrocapitofemoral dysplasia |
CTD ClinVar OMIM RGD |
PMID:12624140 PMID:12632327 PMID:25741868 PMID:28492532 PMID:34530144 PMID:12632327 More...
|
RGD:1600033 |
NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532
|
|
|
G |
Fam20a |
FAM20A, golgi associated secretory pathway pseudokinase |
|
ISO |
ClinVar Annotator: match by term: Acrodysostosis |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr10:94,638,836...94,697,814
Ensembl chr10:94,642,850...94,697,672
|
|
G |
Pde4d |
phosphodiesterase 4D |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acrodysostosis |
CTD ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 2:40,014,933...41,529,190
Ensembl chr 2:40,019,933...41,525,884
|
|
G |
Prkar1a |
protein kinase cAMP-dependent type I regulatory subunit alpha |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acrodysostosis | ClinVar Annotator: match by term: Peripheral dysostosis-nasal hypoplasia-mental retardation (PNM) syndrome OMIM:101800 | OMIM:614613 |
CTD ClinVar MouseDO |
PMID:11115848 PMID:15371594 PMID:18241045 PMID:19293268 PMID:21651393 PMID:22464250 PMID:22785148 PMID:23043190 PMID:23942052 PMID:25637381 PMID:25741868 PMID:26405036 PMID:27589370 PMID:27825928 PMID:28051113 PMID:28492532 PMID:28518168 PMID:28804209 PMID:29264456 PMID:32461654 PMID:34313605 More...
|
|
NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
|
|
|
G |
Prkar1a |
protein kinase cAMP-dependent type I regulatory subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Acrodysostosis 1 with or without hormone resistance |
OMIM ClinVar |
PMID:11115848 PMID:11200992 PMID:15371594 PMID:18241045 PMID:19293268 PMID:20358582 PMID:21651393 PMID:22464250 PMID:22464252 PMID:22785148 PMID:23043190 PMID:23425300 PMID:23942052 PMID:25637381 PMID:25741868 PMID:26405036 PMID:27589370 PMID:28051113 PMID:28492532 PMID:28518168 PMID:28804209 PMID:29264456 PMID:30426508 PMID:32191290 PMID:32287321 PMID:32461654 PMID:34313605 More...
|
|
NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
|
|
|
G |
Depdc1b |
DEP domain containing 1B |
|
ISO |
ClinVar Annotator: match by term: Acrodysostosis 2 with or without hormone resistance |
ClinVar |
PMID:21681106 PMID:24203977 |
|
NCBI chr 2:39,891,163...39,963,779
Ensembl chr 2:39,891,481...39,963,779
|
|
G |
Pde4d |
phosphodiesterase 4D |
|
ISO |
ClinVar Annotator: match by term: Acrodysostosis 2 with or without hormone resistance | ClinVar Annotator: match by term: PDE4D-related condition |
OMIM ClinVar |
PMID:11200992 PMID:12121997 PMID:15025561 PMID:21681106 PMID:22464250 PMID:22464252 PMID:23033274 PMID:24033266 PMID:24203977 PMID:25044890 PMID:25064455 PMID:25741868 PMID:28492532 PMID:30006632 PMID:33858404 More...
|
|
NCBI chr 2:40,014,933...41,529,190
Ensembl chr 2:40,019,933...41,525,884
|
|
|
G |
Gdf5 |
growth differentiation factor 5 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dwarfism | ClinVar Annotator: match by term: Acromesomelic dysplasia |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612
|
|
G |
Npr2 |
natriuretic peptide receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
|
|
|
G |
Gdf5 |
growth differentiation factor 5 |
|
ISO ISS |
OMIM:200700 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Grebe syndrome DNA:missense mutation:cds:c.1285T>C (p.C429R)(human) DNA:missense mutation:cds:c.527T>C(p.L176P)(human) DNA:insertion mutation:cds:1114insGAGT(human) |
OMIM MouseDO CTD ClinVar RGD |
PMID:9288098 PMID:12124730 PMID:12900894 PMID:17384641 PMID:25741868 PMID:28492532 PMID:18979166 PMID:23812741 PMID:19038017 More...
|
RGD:12487346, RGD:12437083, RGD:12437075 |
NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612
|
|
|
G |
Bmpr1b |
bone morphogenetic protein receptor type 1B |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type |
ClinVar |
PMID:29322508 |
|
NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368
|
|
G |
Gdf5 |
growth differentiation factor 5 |
|
ISO ISS |
ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type | ClinVar Annotator: match by term: Acromesomelic dysplasia, Hunter-Thompson type OMIM:201250 |
OMIM ClinVar MouseDO |
PMID:2703235 PMID:8589725 PMID:17384641 PMID:25741868 PMID:28492532 |
|
NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612
|
|
|
G |
Aptx |
aprataxin |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855
|
|
G |
Aqp3 |
aquaporin 3 (Gill blood group) |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,239,200...56,244,718
Ensembl chr 5:56,239,201...56,244,720
|
|
G |
Aqp7 |
aquaporin 7 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,171,649...56,186,642
Ensembl chr 5:56,172,519...56,186,642
|
|
G |
Arhgef39 |
Rho guanine nucleotide exchange factor 39 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,752,509...57,756,079
Ensembl chr 5:57,752,509...57,756,109
|
|
G |
Arid3c |
AT-rich interaction domain 3C |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,889,649...56,896,959
Ensembl chr 5:56,890,042...56,895,888
|
|
G |
Atosb |
atos homolog B |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,260,839...57,274,524
Ensembl chr 5:57,260,841...57,268,892
|
|
G |
B4galt1 |
beta-1,4-galactosyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:55,935,614...55,982,461
Ensembl chr 5:55,935,615...55,982,461
|
|
G |
Bag1 |
BAG cochaperone 1 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,068,494...56,081,075
Ensembl chr 5:56,068,494...56,081,075
|
|
G |
Car9 |
carbonic anhydrase 9 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838
|
|
G |
Ccdc107 |
coiled-coil domain containing 107 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918
|
|
G |
Ccin |
calicin |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,206,676...58,208,563
Ensembl chr 5:58,206,633...58,208,951
|
|
G |
Ccl19 |
C-C motif chemokine ligand 19 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
|
|
G |
Ccl21 |
C-C motif chemokine ligand 21 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686
|
|
G |
Ccl27 |
C-C motif chemokine ligand 27 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506
|
|
G |
Cd72 |
Cd72 molecule |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,697,361...57,704,980
Ensembl chr 5:57,697,367...57,704,725
|
|
G |
Chmp5 |
charged multivesicular body protein 5 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,081,385...56,098,529
Ensembl chr 5:56,081,343...56,098,529
|
|
G |
Cimip2b |
ciliary microtubule inner protein 2B |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,675,537...57,680,133
Ensembl chr 5:57,675,462...57,678,611
|
|
G |
Clta |
clathrin, light chain A |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,244,253...58,263,480
Ensembl chr 5:58,245,442...58,263,472
|
|
G |
Cntfr |
ciliary neurotrophic factor receptor |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,823,448...56,861,049
Ensembl chr 5:56,823,965...56,841,392
|
|
G |
Creb3 |
cAMP responsive element binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,817,865...57,823,233
Ensembl chr 5:57,817,832...57,824,390
|
|
G |
Dcaf12 |
DDB1 and CUL4 associated factor 12 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,460,418...56,482,171
Ensembl chr 5:56,461,006...56,482,456
|
|
G |
Dctn3 |
dynactin subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,881,085...56,889,041
Ensembl chr 5:56,881,085...56,889,102
|
|
G |
Dnai1 |
dynein, axonemal, intermediate chain 1 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925
|
|
G |
Dnaja1 |
DnaJ heat shock protein family (Hsp40) member A1 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:55,842,414...55,853,326
Ensembl chr 5:55,842,426...55,853,967
|
|
G |
Dnajb5 |
DnaJ heat shock protein family (Hsp40) member B5 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,176,840...57,186,067
Ensembl chr 5:57,176,845...57,185,490
|
|
G |
Enho |
energy homeostasis associated |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,800,980...56,802,777
Ensembl chr 5:56,800,980...56,802,777
|
|
G |
Exosc3 |
exosome component 3 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,573,849...59,579,065
Ensembl chr 5:59,573,886...59,579,060
|
|
G |
Fam219a |
family with sequence similarity 219, member A |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,679,272...56,729,959
Ensembl chr 5:56,680,613...56,729,924
|
|
G |
Fam221b |
family with sequence similarity 221, member B |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,910,346...57,919,562
Ensembl chr 5:57,910,352...57,919,367
|
|
G |
Fancg |
FA complementation group G |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029
|
|
G |
Fbxo10 |
F-box protein 10 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,297,016...59,343,429
Ensembl chr 5:59,297,045...59,343,348
|
|
G |
Frmpd1 |
FERM and PDZ domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,443,076...59,545,125
Ensembl chr 5:59,443,076...59,545,080
|
|
G |
Galt |
galactose-1-phosphate uridylyltransferase |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265
|
|
G |
Gba2 |
glucosylceramidase beta 2 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072
|
|
G |
Glipr2 |
GLI pathogenesis-related 2 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,170,417...58,202,258
Ensembl chr 5:58,170,425...58,202,272
|
|
G |
Gne |
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499
|
|
G |
Grhpr |
glyoxylate and hydroxypyruvate reductase |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,234,179...59,243,614
Ensembl chr 5:59,234,192...59,243,603
|
|
G |
Hint2 |
histidine triad nucleotide binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,904,613...57,906,868
Ensembl chr 5:57,904,614...57,907,097
|
|
G |
Hrct1 |
histidine rich carboxyl terminus 1 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,982,344...57,983,186
Ensembl chr 5:57,982,470...57,982,790
|
|
G |
Il11ra1 |
interleukin 11 receptor subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408
|
|
G |
Kif24 |
kinesin family member 24 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,561,019...56,628,040
Ensembl chr 5:56,561,154...56,628,025
|
|
G |
Melk |
maternal embryonic leucine zipper kinase |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,540,393...58,600,562
Ensembl chr 5:58,540,449...58,600,937
|
|
G |
Msmp |
microseminoprotein, prostate associated |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,838,935...57,839,985
Ensembl chr 5:57,838,935...57,839,985
|
|
G |
Myorg |
myogenesis regulating glycosidase |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,654,257...56,664,467
Ensembl chr 5:56,648,643...56,664,440
|
|
G |
Ndufb6 |
NADH:ubiquinone oxidoreductase subunit B6 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:55,400,543...55,410,110
Ensembl chr 5:55,400,543...55,410,181
|
|
G |
Nfx1 |
nuclear transcription factor, X-box binding 1 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,104,945...56,162,912
Ensembl chr 5:56,105,234...56,162,912
|
|
G |
Nol6 |
nucleolar protein 6 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,259,919...56,270,540
Ensembl chr 5:56,260,830...56,270,336
|
|
G |
Npr2 |
natriuretic peptide receptor 2 |
|
ISO ISS |
ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 1 | ClinVar Annotator: match by term: Acromesomelic dwarfism Maroteux type | ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type | ClinVar Annotator: match by term: Acromesomelic dysplasia, Maroteaux type | ClinVar Annotator: match by term: ST. HELENA DYSPLASIA OMIM:602875 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:15146390 PMID:15572448 PMID:16199547 PMID:16384845 PMID:17576681 PMID:18945719 PMID:22691581 PMID:23065701 PMID:24001744 PMID:24259409 PMID:24471569 PMID:25387261 PMID:25703509 PMID:25741868 PMID:25959430 PMID:26075495 PMID:26284228 PMID:26349192 PMID:26567084 PMID:26633542 PMID:26980729 PMID:27994189 PMID:28492532 PMID:30359775 PMID:30408610 PMID:30602027 PMID:30622824 PMID:31960617 PMID:31990356 PMID:32165824 PMID:32506268 PMID:32694885 PMID:32720985 PMID:33205215 PMID:33288834 PMID:34006472 PMID:34008892 PMID:34162036 PMID:34217350 PMID:35368703 PMID:35455946 More...
|
|
NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
|
|
G |
Nudt2 |
nudix hydrolase 2 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,628,265...56,643,104
Ensembl chr 5:56,628,265...56,643,104
|
|
G |
Or13c7 |
olfactory receptor family 13 subfamily C member 7 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,081,150...58,082,109
Ensembl chr 5:58,077,726...58,083,852
|
|
G |
Or13j1 |
olfactory receptor family 13 subfamily J member 1 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,961,391...57,962,329
Ensembl chr 5:57,960,219...57,965,853
|
|
G |
Pax5 |
paired box 5 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,763,334...58,945,719
Ensembl chr 5:58,765,036...58,944,326
|
|
G |
Phf24 |
PHD finger protein 24 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,143,428...57,171,054
Ensembl chr 5:57,142,632...57,168,497
|
|
G |
Pigo |
phosphatidylinositol glycan anchor biosynthesis, class O |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146
|
|
G |
Polr1e |
RNA polymerase I subunit E |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,279,456...59,295,346
Ensembl chr 5:59,279,460...59,295,369
|
|
G |
Prss3 |
serine protease 3 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:70,203,088...70,206,562
Ensembl chr 4:70,203,088...70,206,562
|
|
G |
Reck |
reversion-inducing-cysteine-rich protein with kazal motifs |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,102,961...58,169,516
Ensembl chr 5:58,102,981...58,169,502
|
|
G |
Rgp1 |
RGP1 homolog, RAB6A GEF complex partner 1 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,834,467...57,843,087
Ensembl chr 5:57,834,629...57,843,086
|
|
G |
Rig1 |
RNA sensor RIG-1 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:55,321,351...55,369,947
Ensembl chr 5:55,321,235...55,370,819
|
|
G |
Rnf38 |
ring finger protein 38 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,358,771...58,467,424
Ensembl chr 5:58,361,976...58,467,446
|
|
G |
Rpp25l |
ribonuclease P/MRP subunit p25 like |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,878,420...56,879,956
Ensembl chr 5:56,876,316...56,880,013
|
|
G |
Rusc2 |
RUN and SH3 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,628,397...57,675,524
Ensembl chr 5:57,629,904...57,675,524
|
|
G |
Sigmar1 |
sigma non-opioid intracellular receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017
|
|
G |
Sit1 |
signaling threshold regulating transmembrane adaptor 1 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,740,212...57,741,838
Ensembl chr 5:57,740,218...57,741,838
|
|
G |
Smu1 |
SMU1, DNA replication regulator and spliceosomal factor |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:55,856,691...55,875,262
Ensembl chr 5:55,856,246...55,875,300
|
|
G |
Spag8 |
sperm associated antigen 8 |
|
ISO |
ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 1 | ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type | ClinVar Annotator: match by term: Acromesomelic dysplasia, Maroteaux type |
ClinVar |
PMID:15146390 PMID:15572448 PMID:16199547 PMID:16384845 PMID:18945719 PMID:22691581 PMID:25387261 PMID:25741868 PMID:26567084 PMID:26633542 PMID:28492532 PMID:30359775 PMID:30408610 PMID:30622824 PMID:31960617 PMID:32720985 PMID:33288834 More...
|
|
NCBI chr 5:57,901,681...57,903,894
Ensembl chr 5:57,901,682...57,903,894
|
|
G |
Spata31f1 |
SPATA31 subfamily F member 1 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,065,743...57,071,880
Ensembl chr 5:57,065,747...57,071,738
|
|
G |
Spata31g1 |
SPATA31 subfamily G member 1 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,199,980...57,204,069
Ensembl chr 5:57,200,000...57,204,070
|
|
G |
Spink4 |
serine peptidase inhibitor, Kazal type 4 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,043,936...56,064,841
Ensembl chr 5:55,981,624...56,064,795
|
|
G |
Spmip6 |
sperm microtubule inner protein 6 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,666,160...56,678,865
Ensembl chr 5:56,666,058...56,678,923
|
|
G |
Stoml2 |
stomatin like 2 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,256,227...57,259,824
Ensembl chr 5:57,256,220...57,259,920
|
|
G |
Tesk1 |
testis associated actin remodelling kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,691,922...57,697,698
Ensembl chr 5:57,691,969...57,697,698
|
|
G |
Tln1 |
talin 1 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,787,670...57,817,900
Ensembl chr 5:57,787,943...57,817,900
|
|
G |
Tmem215 |
transmembrane protein 215 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:55,612,568...55,615,828
Ensembl chr 5:55,612,568...55,615,828
|
|
G |
Tmem8b |
transmembrane protein 8B |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,919,473...57,948,419
Ensembl chr 5:57,919,804...57,946,772
|
|
G |
Tomm5 |
translocase of outer mitochondrial membrane 5 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,362,360...59,365,191
Ensembl chr 5:59,362,240...59,365,269
|
|
G |
Topors |
TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:55,388,033...55,399,937
Ensembl chr 5:55,387,632...55,399,937
|
|
G |
Tpm2 |
tropomyosin 2 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992
|
|
G |
Trmt10b |
tRNA methyltransferase 10B |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,548,845...59,572,529
Ensembl chr 5:59,548,869...59,572,526
|
|
G |
Ubap1 |
ubiquitin-associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,520,722...56,561,153
Ensembl chr 5:56,520,743...56,561,152
|
|
G |
Ubap2 |
ubiquitin-associated protein 2 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,348,243...56,437,403
Ensembl chr 5:56,348,246...56,437,049
|
|
G |
Ube2r2 |
ubiquitin-conjugating enzyme E2R 2 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,286,604...56,345,160
Ensembl chr 5:56,286,725...56,345,513
|
|
G |
Unc13b |
unc-13 homolog B |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,288,999...57,504,110
Ensembl chr 5:57,289,227...57,502,926
|
|
G |
Vcp |
valosin-containing protein |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
|
|
G |
Zbtb5 |
zinc finger and BTB domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,244,132...59,265,461
Ensembl chr 5:59,243,307...59,265,426
|
|
G |
Zcchc7 |
zinc finger CCHC-type containing 7 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,992,558...59,173,308
Ensembl chr 5:58,993,290...59,173,300
|
|
|
G |
Bmpr1b |
bone morphogenetic protein receptor type 1B |
|
ISO |
ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 3 | ClinVar Annotator: match by term: Acromesomelic dysplasia 3 | ClinVar Annotator: match by term: Acromesomelic dysplasia, Demirhan type | ClinVar Annotator: match by term: CHONDRODYSPLASIA, ACROMESOMELIC, WITH OR WITHOUT GENITAL ANOMALIES CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:15805157 PMID:22374147 PMID:24129431 PMID:25741868 PMID:25758993 PMID:26105076 PMID:28492532 PMID:35034853 More...
|
|
NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368
|
|
|
G |
Prkg2 |
protein kinase cGMP-dependent 2 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 4 |
OMIM ClinVar |
PMID:25741868 PMID:33106379 PMID:34782440 |
|
NCBI chr14:10,559,882...10,668,479
Ensembl chr14:10,559,882...10,666,888
|
|
|
G |
Adamtsl2 |
ADAMTS-like 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Geleophysic dwarfism |
CTD ClinVar |
PMID:18677313 PMID:24014090 PMID:25741868 PMID:26879370 PMID:33369194 PMID:36474027 More...
|
|
NCBI chr 3:10,397,774...10,434,557
Ensembl chr 3:10,404,626...10,434,554
|
|
G |
Fbn1 |
fibrillin 1 |
|
ISO |
ClinVar Annotator: match by term: Acromicric dysplasia | ClinVar Annotator: match by term: Acromicric skeletal dysplasia ClinVar Annotator: match by term: Acromicric dysplasia | ClinVar Annotator: match by term: Acromicric skeletal dysplasia | ClinVar Annotator: match by term: Geleophysic dwarfism CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:627879 PMID:948948 PMID:960337 PMID:1852206 PMID:2005308 PMID:2254511 PMID:3212331 PMID:3495735 PMID:3536967 PMID:4750422 PMID:7738200 PMID:7802039 PMID:7870075 PMID:8004112 PMID:8040326 PMID:8281141 PMID:8430317 PMID:8541880 PMID:8563763 PMID:8653794 PMID:8723076 PMID:8791520 PMID:8941093 PMID:8988160 PMID:9150726 PMID:9338581 PMID:9338588 PMID:9399842 PMID:9401003 PMID:9452085 PMID:9536098 PMID:9817919 PMID:9837823 PMID:9876915 PMID:10189222 PMID:10198291 PMID:10464652 PMID:10486319 PMID:10533071 PMID:10612827 PMID:10633129 PMID:10679954 PMID:10694921 PMID:11068200 PMID:11143906 PMID:11175294 PMID:11315929 PMID:11524736 PMID:11700157 PMID:11702223 PMID:11748851 PMID:11826022 PMID:11875032 PMID:11933199 PMID:11992479 PMID:12068374 PMID:12161601 PMID:12203987 PMID:12203992 PMID:12402346 PMID:12446365 PMID:12651868 PMID:12938084 PMID:14598350 PMID:14695540 PMID:15054843 PMID:15062093 PMID:15161917 PMID:15241795 PMID:15598221 PMID:15880509 PMID:15980072 PMID:16061422 PMID:16199547 PMID:16220557 PMID:16222657 PMID:16273536 PMID:16333834 PMID:16342915 PMID:16571647 PMID:16677079 PMID:16756980 PMID:16765689 PMID:16835936 PMID:16905551 PMID:16971892 PMID:17242066 PMID:17253931 PMID:17418587 PMID:17503327 PMID:17576681 PMID:17627385 PMID:17657824 PMID:17663468 PMID:17679947 PMID:17701892 PMID:17718856 PMID:18079676 PMID:18087243 PMID:18435798 PMID:18615205 PMID:19012347 PMID:19059503 PMID:19089573 PMID:19159394 PMID:19161152 PMID:19293843 PMID:19328768 PMID:19349279 PMID:19353630 PMID:19370756 PMID:19396033 PMID:19533785 PMID:19618372 PMID:19780835 PMID:19802897 PMID:19839986 PMID:19863550 PMID:19941982 PMID:20200614 PMID:20301510 PMID:20375004 PMID:20564469 PMID:20591885 PMID:20699357 PMID:20886638 PMID:20979188 PMID:21542060 PMID:21594992 PMID:21594993 PMID:21683322 PMID:21784848 PMID:21883168 PMID:21895641 PMID:21907952 PMID:21932315 PMID:22772377 PMID:22950452 PMID:23133647 PMID:23278365 PMID:23506379 PMID:23577066 PMID:23590259 PMID:23608731 PMID:23653584 PMID:23684891 PMID:23719250 PMID:23794388 PMID:23897642 PMID:24033266 PMID:24039054 PMID:24055113 PMID:24161884 PMID:24199744 PMID:24311428 PMID:24339047 PMID:24564502 PMID:24635535 PMID:24665001 PMID:24740214 PMID:24793577 PMID:24833718 PMID:24941995 PMID:25053872 PMID:25101912 PMID:25203624 PMID:25326635 PMID:25363768 PMID:25504618 PMID:25519456 PMID:25637381 PMID:25644172 PMID:25652356 PMID:25736269 PMID:25741868 PMID:25812041 PMID:25852444 PMID:25900864 PMID:25907466 PMID:25944730 PMID:25979247 PMID:26017485 PMID:26026792 PMID:26133393 PMID:26188975 PMID:26214305 PMID:26269718 PMID:26272055 PMID:26272908 PMID:26332594 PMID:26333736 PMID:26498160 PMID:26559152 PMID:26621581 PMID:26684006 PMID:26764160 PMID:26787436 PMID:26875674 PMID:27058611 PMID:27106435 PMID:27112580 PMID:27146836 PMID:27153395 PMID:27234404 PMID:27245183 PMID:27274304 PMID:27353645 PMID:27382527 PMID:27437668 PMID:27582083 PMID:27611364 PMID:27647783 PMID:27724990 PMID:27906200 PMID:27930701 PMID:27935852 PMID:27959697 PMID:28050602 PMID:28087566 PMID:28098115 PMID:28254189 PMID:28301460 PMID:28468757 PMID:28492532 PMID:28497567 PMID:28539832 PMID:28550590 PMID:28636274 PMID:28642162 PMID:28650953 PMID:28655553 PMID:28659821 PMID:28847661 PMID:28855619 PMID:28901506 PMID:28941062 PMID:28973303 PMID:29168297 PMID:29357934 PMID:29510914 PMID:29543232 PMID:29768367 PMID:29845260 PMID:29848614 PMID:29875124 PMID:29907982 PMID:30056620 PMID:30057829 PMID:30341550 PMID:30471092 PMID:30513137 PMID:30542390 PMID:30653986 PMID:30675029 PMID:30739908 PMID:30796334 PMID:30838813 PMID:31008308 PMID:31020005 PMID:31098894 PMID:31163209 PMID:31167969 PMID:31211624 PMID:31211626 PMID:31227806 PMID:31322791 PMID:31506931 PMID:31605817 PMID:31727422 PMID:31730815 PMID:31751304 PMID:31774634 PMID:31825148 PMID:31903434 PMID:31950671 PMID:32009526 PMID:32123317 PMID:32679894 PMID:32730690 PMID:32938213 PMID:32939518 PMID:33082559 PMID:33100332 PMID:33243733 PMID:33282382 PMID:33436942 PMID:33483584 PMID:33824467 PMID:34008892 PMID:34135346 PMID:34281902 PMID:34422331 PMID:34456093 PMID:34498425 PMID:34653508 PMID:34818515 PMID:35234813 PMID:35531120 PMID:35877578 PMID:36973604 PMID:37042257 PMID:37460677 PMID:37684520 More...
|
|
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
|
|
G |
Smad2 |
SMAD family member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18677313 |
|
NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323
|
|
G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18677313 |
|
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
|
|
|
G |
Lbr |
lamin B receptor |
|
ISO |
ClinVar Annotator: match by term: Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia |
ClinVar |
PMID:18382993 PMID:25348816 PMID:25741868 PMID:28492532 |
|
NCBI chr13:93,539,386...93,564,026
Ensembl chr13:93,538,920...93,564,017
|
|
|
G |
Arhgef39 |
Rho guanine nucleotide exchange factor 39 |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,752,509...57,756,079
Ensembl chr 5:57,752,509...57,756,109
|
|
G |
Arid3c |
AT-rich interaction domain 3C |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,889,649...56,896,959
Ensembl chr 5:56,890,042...56,895,888
|
|
G |
Atosb |
atos homolog B |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,260,839...57,274,524
Ensembl chr 5:57,260,841...57,268,892
|
|
G |
Car9 |
carbonic anhydrase 9 |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838
|
|
G |
Ccdc107 |
coiled-coil domain containing 107 |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:8034306 PMID:8444246 PMID:9156319 PMID:10026268 PMID:11207361 PMID:11940090 PMID:12107819 PMID:12888988 PMID:14569119 PMID:16097009 PMID:16254002 PMID:16838329 PMID:17701897 PMID:18804272 PMID:25741868 PMID:28094436 PMID:28492532 More...
|
|
NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918
|
|
G |
Ccin |
calicin |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,206,676...58,208,563
Ensembl chr 5:58,206,633...58,208,951
|
|
G |
Ccl19 |
C-C motif chemokine ligand 19 |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
|
|
G |
Ccl21 |
C-C motif chemokine ligand 21 |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686
|
|
G |
Ccl27 |
C-C motif chemokine ligand 27 |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506
|
|
G |
Cd72 |
Cd72 molecule |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,697,361...57,704,980
Ensembl chr 5:57,697,367...57,704,725
|
|
G |
Cimip2b |
ciliary microtubule inner protein 2B |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,675,537...57,680,133
Ensembl chr 5:57,675,462...57,678,611
|
|
G |
Clta |
clathrin, light chain A |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,244,253...58,263,480
Ensembl chr 5:58,245,442...58,263,472
|
|
G |
Cntfr |
ciliary neurotrophic factor receptor |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,823,448...56,861,049
Ensembl chr 5:56,823,965...56,841,392
|
|
G |
Creb3 |
cAMP responsive element binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,817,865...57,823,233
Ensembl chr 5:57,817,832...57,824,390
|
|
G |
Dctn3 |
dynactin subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,881,085...56,889,041
Ensembl chr 5:56,881,085...56,889,102
|
|
G |
Dnai1 |
dynein, axonemal, intermediate chain 1 |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925
|
|
G |
Dnajb5 |
DnaJ heat shock protein family (Hsp40) member B5 |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,176,840...57,186,067
Ensembl chr 5:57,176,845...57,185,490
|
|
G |
Enho |
energy homeostasis associated |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,800,980...56,802,777
Ensembl chr 5:56,800,980...56,802,777
|
|
G |
Fam219a |
family with sequence similarity 219, member A |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,679,272...56,729,959
Ensembl chr 5:56,680,613...56,729,924
|
|
G |
Fam221b |
family with sequence similarity 221, member B |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,910,346...57,919,562
Ensembl chr 5:57,910,352...57,919,367
|
|
G |
Fancg |
FA complementation group G |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029
|
|
G |
Galt |
galactose-1-phosphate uridylyltransferase |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265
|
|
G |
Gba2 |
glucosylceramidase beta 2 |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072
|
|
G |
Glipr2 |
GLI pathogenesis-related 2 |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,170,417...58,202,258
Ensembl chr 5:58,170,425...58,202,272
|
|
G |
Gne |
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499
|
|
G |
Hint2 |
histidine triad nucleotide binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,904,613...57,906,868
Ensembl chr 5:57,904,614...57,907,097
|
|
G |
Hrct1 |
histidine rich carboxyl terminus 1 |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,982,344...57,983,186
Ensembl chr 5:57,982,470...57,982,790
|
|
G |
Il11ra1 |
interleukin 11 receptor subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408
|
|
G |
Msmp |
microseminoprotein, prostate associated |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,838,935...57,839,985
Ensembl chr 5:57,838,935...57,839,985
|
|
G |
Myorg |
myogenesis regulating glycosidase |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,654,257...56,664,467
Ensembl chr 5:56,648,643...56,664,440
|
|
G |
Npr2 |
natriuretic peptide receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
|
|
G |
Or13c7 |
olfactory receptor family 13 subfamily C member 7 |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,081,150...58,082,109
Ensembl chr 5:58,077,726...58,083,852
|
|
G |
Or13j1 |
olfactory receptor family 13 subfamily J member 1 |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,961,391...57,962,329
Ensembl chr 5:57,960,219...57,965,853
|
|
G |
Phf24 |
PHD finger protein 24 |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,143,428...57,171,054
Ensembl chr 5:57,142,632...57,168,497
|
|
G |
Pigo |
phosphatidylinositol glycan anchor biosynthesis, class O |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146
|
|
G |
Reck |
reversion-inducing-cysteine-rich protein with kazal motifs |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,102,961...58,169,516
Ensembl chr 5:58,102,981...58,169,502
|
|
G |
Rgp1 |
RGP1 homolog, RAB6A GEF complex partner 1 |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,834,467...57,843,087
Ensembl chr 5:57,834,629...57,843,086
|
|
G |
Rpp25l |
ribonuclease P/MRP subunit p25 like |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,878,420...56,879,956
Ensembl chr 5:56,876,316...56,880,013
|
|
G |
Rusc2 |
RUN and SH3 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,628,397...57,675,524
Ensembl chr 5:57,629,904...57,675,524
|
|
G |
Sigmar1 |
sigma non-opioid intracellular receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017
|
|
G |
Sit1 |
signaling threshold regulating transmembrane adaptor 1 |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,740,212...57,741,838
Ensembl chr 5:57,740,218...57,741,838
|
|
G |
Spaar |
small regulatory polypeptide of amino acid response |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,985,423...57,987,482
|
|
G |
Spag8 |
sperm associated antigen 8 |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,901,681...57,903,894
Ensembl chr 5:57,901,682...57,903,894
|
|
G |
Spata31f1 |
SPATA31 subfamily F member 1 |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,065,743...57,071,880
Ensembl chr 5:57,065,747...57,071,738
|
|
G |
Spata31f3 |
SPATA31 subfamily F member 3 |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,087,305...57,093,191
Ensembl chr 5:57,087,320...57,093,164
|
|
G |
Spata31g1 |
SPATA31 subfamily G member 1 |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,199,980...57,204,069
Ensembl chr 5:57,200,000...57,204,070
|
|
G |
Spmip6 |
sperm microtubule inner protein 6 |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,666,160...56,678,865
Ensembl chr 5:56,666,058...56,678,923
|
|
G |
Stoml2 |
stomatin like 2 |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,256,227...57,259,824
Ensembl chr 5:57,256,220...57,259,920
|
|
G |
Tesk1 |
testis associated actin remodelling kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,691,922...57,697,698
Ensembl chr 5:57,691,969...57,697,698
|
|
G |
Tln1 |
talin 1 |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,787,670...57,817,900
Ensembl chr 5:57,787,943...57,817,900
|
|
G |
Tmem8b |
transmembrane protein 8B |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,919,473...57,948,419
Ensembl chr 5:57,919,804...57,946,772
|
|
G |
Tpm2 |
tropomyosin 2 |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992
|
|
G |
Unc13b |
unc-13 homolog B |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,288,999...57,504,110
Ensembl chr 5:57,289,227...57,502,926
|
|
G |
Vcp |
valosin-containing protein |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
|
|
|
G |
Ccdc107 |
coiled-coil domain containing 107 |
|
ISO |
ClinVar Annotator: match by term: Spondylometaepiphyseal dysplasia Menger type |
ClinVar |
PMID:8034306 PMID:8444246 PMID:9156319 PMID:10026268 PMID:11207361 PMID:11940090 PMID:12107819 PMID:12888988 PMID:14569119 PMID:16097009 PMID:16254002 PMID:16838329 PMID:17701897 PMID:18804272 PMID:25741868 PMID:28094436 PMID:28492532 More...
|
|
NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918
|
|
G |
Pop1 |
POP1 homolog, ribonuclease P/MRP subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 7:65,705,348...65,733,143
Ensembl chr 7:65,705,368...65,733,141
|
|
|
G |
Pop1 |
POP1 homolog, ribonuclease P/MRP subunit |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia 2 | ClinVar Annotator: match by term: POP1-related condition |
OMIM ClinVar |
PMID:21455487 PMID:21534943 PMID:25741868 PMID:27380734 PMID:28067412 PMID:28492532 PMID:30408610 More...
|
|
NCBI chr 7:65,705,348...65,733,143
Ensembl chr 7:65,705,368...65,733,141
|
|
|
G |
Nepro |
nucleolus and neural progenitor protein |
|
ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia 3 |
OMIM ClinVar |
PMID:25741868 PMID:26633546 PMID:29620724 PMID:31250547 |
|
NCBI chr11:55,958,265...55,970,432
Ensembl chr11:55,958,267...55,970,432
|
|
|
G |
4933427D14Rikl |
RIKEN cDNA 4933427D14 gene like |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29138412 PMID:31816441 PMID:34529350 |
|
NCBI chr10:56,783,869...56,832,668
Ensembl chr10:56,783,775...56,832,968
|
|
G |
B9d1 |
B9 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:25741868 |
|
NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008
|
|
G |
Birc2 |
baculoviral IAP repeat-containing 2 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
|
NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732
|
|
G |
Birc3 |
baculoviral IAP repeat-containing 3 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
|
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
|
|
G |
C2cd3 |
C2 domain containing 3 centriole elongation regulator |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:25741868 PMID:26092869 |
|
NCBI chr 1:154,715,151...154,812,955
Ensembl chr 1:154,715,310...154,812,520
|
|
G |
Cep120 |
centrosomal protein 120 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr18:47,127,979...47,189,964
Ensembl chr18:47,127,981...47,189,964
|
|
G |
Cep126 |
centrosomal protein 126 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
|
NCBI chr 8:5,200,576...5,267,740
Ensembl chr 8:5,218,509...5,267,467
|
|
G |
Cfap300 |
cilia and flagella associated protein 300 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
|
NCBI chr 8:5,180,180...5,198,840
Ensembl chr 8:5,180,675...5,198,807
|
|
G |
Cilk1 |
ciliogenesis associated kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
ClinVar |
PMID:27466187 |
|
NCBI chr 8:78,984,075...79,042,695
Ensembl chr 8:78,984,258...79,042,691
|
|
G |
Col2a1 |
collagen type II alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Short ribs |
ClinVar |
PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 PMID:19344236 PMID:25741868 PMID:28492532 PMID:29620724 More...
|
|
NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
|
|
G |
Csrnp3 |
cysteine and serine rich nuclear protein 3 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
|
|
NCBI chr 3:50,498,379...50,695,598
Ensembl chr 3:50,498,633...50,685,950
|
|
G |
Dcun1d5 |
defective in cullin neddylation 1 domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
|
NCBI chr 8:4,412,266...4,433,380
Ensembl chr 8:4,412,221...4,433,367
|
|
G |
Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome DNA:missense mutations:cds:multiple(human) |
CTD ClinVar RGD |
PMID:6938784 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19361615 PMID:19442771 PMID:19763152 PMID:20307669 PMID:21211617 PMID:22406018 PMID:22499340 PMID:23339108 PMID:23456818 PMID:24033266 PMID:24123776 PMID:24183451 PMID:24759409 PMID:24781753 PMID:25356970 PMID:25410398 PMID:25492405 PMID:25640679 PMID:25741868 PMID:25982780 PMID:26489029 PMID:26826164 PMID:26874042 PMID:26938784 PMID:27323140 PMID:27353043 PMID:27925158 PMID:28492532 PMID:28518170 PMID:28832562 PMID:28973083 PMID:29068549 PMID:29096039 PMID:29359448 PMID:29453417 PMID:29620724 PMID:29947050 PMID:30190612 PMID:30655312 PMID:30773290 PMID:31413057 PMID:31415973 PMID:31730820 PMID:31935347 PMID:31943948 PMID:32494556 PMID:32753734 PMID:33452237 PMID:33532864 PMID:33694158 PMID:33726816 PMID:33755199 PMID:33846808 PMID:33875766 PMID:34040173 PMID:34529350 PMID:34627339 PMID:34675960 PMID:34740920 PMID:34788402 PMID:34958143 PMID:35277174 PMID:35506549 PMID:35587316 PMID:35627109 PMID:35929941 PMID:36599940 PMID:22499340 More...
|
RGD:11072153 |
NCBI chr 8:4,189,067...4,412,183
Ensembl chr 8:4,189,257...4,412,183
|
|
G |
Dync2i1 |
dynein 2 intermediate chain 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jeune thoracic dystrophy |
CTD ClinVar |
PMID:25741868 PMID:28492532 PMID:29068549 |
|
NCBI chr 6:137,133,418...137,189,937
Ensembl chr 6:137,133,418...137,188,719
|
|
G |
Dync2i2 |
dynein 2 intermediate chain 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jeune thoracic dystrophy |
CTD ClinVar |
PMID:19610081 PMID:24183451 PMID:25741868 PMID:28492532 PMID:29068549 PMID:29241935 PMID:32576942 More...
|
|
NCBI chr 3:13,306,039...13,322,121
Ensembl chr 3:13,306,039...13,322,121
|
|
G |
Dync2li1 |
dynein cytoplasmic 2 light intermediate chain 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 6:9,992,537...10,025,355
Ensembl chr 6:9,992,541...10,025,336
|
|
G |
Dynlt2b |
dynein light chain Tctex-type 2B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr11:68,359,138...68,367,573
Ensembl chr11:68,358,263...68,367,499
|
|
G |
Evc2 |
EvC ciliary complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:16199547 PMID:17024374 PMID:19251731 PMID:19810119 PMID:19876929 PMID:25741868 PMID:28492532 PMID:29068549 More...
|
|
NCBI chr14:73,366,832...73,454,539
Ensembl chr14:73,367,963...73,454,516
|
|
G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Short ribs |
ClinVar |
PMID:1908846 PMID:7773297 PMID:8640234 PMID:8858131 PMID:9438390 PMID:9677066 PMID:10073901 PMID:10471491 PMID:10696568 PMID:11241532 PMID:11529856 PMID:12833394 PMID:15772091 PMID:16841094 PMID:18642369 PMID:20301540 PMID:20420824 PMID:22045636 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29593476 PMID:31299979 PMID:36135330 PMID:36474027 More...
|
|
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
|
|
G |
Flvcr1 |
FLVCR choline and heme transporter 1 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
ClinVar |
PMID:27666822 |
|
NCBI chr13:102,586,263...102,608,647
Ensembl chr13:102,586,257...102,608,661
|
|
G |
Fuz |
fuzzy planar cell polarity protein |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:29068549 |
|
NCBI chr 1:95,379,542...95,384,532
Ensembl chr 1:95,379,587...95,384,530
|
|
G |
Galnt3 |
polypeptide N-acetylgalactosaminyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
|
|
NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268
|
|
G |
Grk2 |
G protein-coupled receptor kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:33200460 |
|
NCBI chr 1:201,580,823...201,601,580
Ensembl chr 1:201,581,480...201,601,582
|
|
G |
Ift140 |
intraflagellar transport 140 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jeune thoracic dystrophy |
CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22503633 PMID:23418020 PMID:24009529 PMID:25741868 PMID:26216056 PMID:28288023 PMID:28492532 PMID:28559085 PMID:28724397 PMID:29068549 PMID:29688594 PMID:30773290 PMID:32483926 PMID:34429528 PMID:34890546 More...
|
|
NCBI chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433
|
|
G |
Ift172 |
intraflagellar transport 172 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860
|
|
G |
Ift43 |
intraflagellar transport 43 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
ClinVar |
PMID:21378380 PMID:25741868 PMID:28400947 PMID:28492532 PMID:29068549 |
|
NCBI chr 6:105,729,734...105,806,257
Ensembl chr 6:105,729,792...105,806,257
|
|
G |
Ift52 |
intraflagellar transport 52 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
CTD ClinVar |
PMID:27466190 PMID:28492532 PMID:29068549 |
|
NCBI chr 3:151,672,505...151,696,975
Ensembl chr 3:151,672,493...151,696,980
|
|
G |
Ift74 |
intraflagellar transport 74 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:29068549 |
|
NCBI chr 5:109,460,372...109,563,839
Ensembl chr 5:109,474,255...109,563,833
|
|
G |
Ift80 |
intraflagellar transport 80 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short ribs |
ClinVar |
PMID:9536098 PMID:11727201 PMID:12673792 PMID:16199547 PMID:16385454 PMID:17468754 PMID:17576681 PMID:19610081 PMID:19648123 PMID:19763152 PMID:20301601 PMID:20307669 PMID:21227999 PMID:22406018 PMID:23339108 PMID:25741868 PMID:28492532 PMID:29068549 PMID:29658880 PMID:29923190 PMID:30266093 PMID:30767363 PMID:33957996 More...
|
|
NCBI chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024
|
|
G |
Ift81 |
intraflagellar transport 81 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:25741868 PMID:26275418 PMID:27666822 PMID:28492532 |
|
NCBI chr12:33,957,744...34,037,164
Ensembl chr12:33,957,806...34,037,057
|
|
G |
Ift88 |
intraflagellar transport 88 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:29068549 |
|
NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147
|
|
G |
Intu |
inturned planar cell polarity protein |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
ClinVar |
PMID:25741868 PMID:27158779 PMID:29068549 |
|
NCBI chr 2:123,600,972...123,685,331
Ensembl chr 2:123,609,807...123,682,676
|
|
G |
Kiaa0586 |
KIAA0586 homolog |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jeune thoracic dystrophy |
CTD ClinVar |
PMID:25741868 |
|
NCBI chr 6:89,622,711...89,725,951
Ensembl chr 6:89,623,699...89,725,962
|
|
G |
Lbr |
lamin B receptor |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28600779 PMID:29068549 |
|
NCBI chr13:93,539,386...93,564,026
Ensembl chr13:93,538,920...93,564,017
|
|
G |
Matn3 |
matrilin 3 |
|
ISO |
ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 6:31,748,517...31,768,564
Ensembl chr 6:31,748,474...31,768,101
|
|
G |
Mmp1 |
matrix metallopeptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
|
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
|
|
G |
Mmp10 |
matrix metallopeptidase 10 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
|
NCBI chr 8:4,689,840...4,697,748
Ensembl chr 8:4,689,840...4,697,748
|
|
G |
Mmp12 |
matrix metallopeptidase 12 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
|
NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611
|
|
G |
Mmp13 |
matrix metallopeptidase 13 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
|
NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
|
|
G |
Mmp20 |
matrix metallopeptidase 20 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
|
NCBI chr 8:4,789,415...4,830,035
Ensembl chr 8:4,789,415...4,830,035
|
|
G |
Mmp27 |
matrix metallopeptidase 27 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
|
NCBI chr 8:4,745,887...4,755,806
Ensembl chr 8:4,745,883...4,755,806
|
|
G |
Mmp3 |
matrix metallopeptidase 3 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
|
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
|
|
G |
Mmp7 |
matrix metallopeptidase 7 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
|
NCBI chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902
|
|
G |
Mmp8 |
matrix metallopeptidase 8 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
|
NCBI chr 8:4,724,009...4,733,864
Ensembl chr 8:4,724,029...4,733,520
|
|
G |
Nek1 |
NIMA-related kinase 1 |
|
ISO |
DNA:missense, frameshift, nonsense mutations:cds,splice junction: ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome CTD Direct Evidence: marker/mechanism DNA:nonsense, transition mutations:cds,splice junction:c.379C>T (p.R127X,)c.869-2A>G (human) |
ClinVar CTD RGD |
PMID:21211617 PMID:22482978 PMID:22499340 PMID:23757202 PMID:25741868 PMID:28492532 PMID:29068549 PMID:22499340 PMID:21211617 More...
|
RGD:11072153, RGD:11069733 |
NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723
|
|
G |
Rab34 |
RAB34, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Jeune's syndrome |
ClinVar |
PMID:25741868 PMID:37619988 |
|
NCBI chr10:63,083,319...63,087,538
Ensembl chr10:63,083,338...63,087,538
|
|
G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
|
|
NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
|
|
G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
|
|
NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
|
|
G |
Scn3a |
sodium voltage-gated channel alpha subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
|
|
NCBI chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119
|
|
G |
Scn9a |
sodium voltage-gated channel alpha subunit 9 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
|
|
NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
|
|
G |
Sltm |
SAFB-like, transcription modulator |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:27666822 |
|
NCBI chr 8:71,215,995...71,261,821
Ensembl chr 8:71,216,612...71,261,825
|
|
G |
Smarcad1 |
SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1` |
|
ISS |
|
MouseDO |
|
|
NCBI chr 4:94,311,441...94,379,184
Ensembl chr 4:94,311,489...94,372,563
|
|
G |
Sptan1 |
spectrin, alpha, non-erythrocytic 1 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:24183451 PMID:28492532 PMID:29068549 |
|
NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046
|
|
G |
Tmem123 |
transmembrane protein 123 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
|
NCBI chr 8:4,922,077...4,952,228
Ensembl chr 8:4,922,098...4,952,224
|
|
G |
Traf3ip1 |
TRAF3 interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:16199547 PMID:21945076 PMID:26487268 PMID:28492532 PMID:29068549 |
|
NCBI chr 9:92,073,622...92,110,427
Ensembl chr 9:92,073,640...92,108,977
|
|
G |
Trpc6 |
transient receptor potential cation channel, subfamily C, member 6 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
|
NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
|
|
G |
Ttc21b |
tetratricopeptide repeat domain 21B |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome | ClinVar Annotator: match by term: Thoracic pelvic phalangeal dystrophy |
CTD ClinVar |
PMID:9536098 PMID:15133511 PMID:16199547 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:17576681 PMID:18327258 PMID:18414213 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:22773737 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24033266 PMID:24650168 PMID:24876116 PMID:25492405 PMID:25640679 PMID:25741868 PMID:25741905 PMID:26068938 PMID:26294094 PMID:26489029 PMID:26940125 PMID:27491411 PMID:28124483 PMID:28492532 PMID:29068549 PMID:29127259 PMID:30655312 PMID:32173348 PMID:33323469 PMID:33532864 PMID:33547761 PMID:33875766 PMID:36263627 More...
|
|
NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903
|
|
G |
Wdr19 |
WD repeat domain 19 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
ClinVar |
PMID:16199547 PMID:22019273 PMID:23559409 PMID:23683095 PMID:24504730 PMID:25726036 PMID:25741868 PMID:26275793 PMID:26489029 PMID:27241786 PMID:28492532 PMID:28973083 PMID:29068549 PMID:31216405 PMID:33875766 More...
|
|
NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
|
|
G |
Wdr35 |
WD repeat domain 35 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
CTD ClinVar |
PMID:22486404 PMID:24033266 PMID:25741868 PMID:25914204 PMID:27158779 PMID:28332779 PMID:28400947 PMID:28492532 PMID:29068549 More...
|
|
NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029
|
|
G |
Yap1 |
Yes1 associated transcriptional regulator |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
|
NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010
|
|
|
G |
Abcg5 |
ATP binding cassette subfamily G member 5 |
|
ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 |
ClinVar |
PMID:26077881 |
|
NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
|
|
G |
Csrnp3 |
cysteine and serine rich nuclear protein 3 |
|
ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
|
|
NCBI chr 3:50,498,379...50,695,598
Ensembl chr 3:50,498,633...50,685,950
|
|
G |
Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
|
ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 | ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:26874042 PMID:28492532 PMID:29068549 PMID:34740920 More...
|
|
NCBI chr 8:4,189,067...4,412,183
Ensembl chr 8:4,189,257...4,412,183
|
|
G |
Dync2i1 |
dynein 2 intermediate chain 1 |
|
ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29068549 |
|
NCBI chr 6:137,133,418...137,189,937
Ensembl chr 6:137,133,418...137,188,719
|
|
G |
Dync2li1 |
dynein cytoplasmic 2 light intermediate chain 1 |
|
ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:26077881 PMID:26130459 PMID:28492532 PMID:32815859 More...
|
|
NCBI chr 6:9,992,537...10,025,355
Ensembl chr 6:9,992,541...10,025,336
|
|
G |
Evc2 |
EvC ciliary complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:19251731 PMID:25741868 PMID:28492532 PMID:29068549 |
|
NCBI chr14:73,366,832...73,454,539
Ensembl chr14:73,367,963...73,454,516
|
|
G |
Galnt3 |
polypeptide N-acetylgalactosaminyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
|
|
NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268
|
|
G |
Ift140 |
intraflagellar transport 140 |
|
ISS |
OMIM:208500 |
MouseDO |
|
|
NCBI chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433
|
|
G |
Ift172 |
intraflagellar transport 172 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860
|
|
G |
Ift80 |
intraflagellar transport 80 |
|
ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29068549 |
|
NCBI chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024
|
|
G |
Lbr |
lamin B receptor |
|
ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28600779 PMID:29068549 |
|
NCBI chr13:93,539,386...93,564,026
Ensembl chr13:93,538,920...93,564,017
|
|
G |
Nek1 |
NIMA-related kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723
|
|
G |
Rab34 |
RAB34, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:25741868 PMID:37619988 |
|
NCBI chr10:63,083,319...63,087,538
Ensembl chr10:63,083,338...63,087,538
|
|
G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
|
|
NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
|
|
G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
|
|
NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
|
|
G |
Scn3a |
sodium voltage-gated channel alpha subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
|
|
NCBI chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119
|
|
G |
Scn9a |
sodium voltage-gated channel alpha subunit 9 |
|
ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
|
|
NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
|
|
G |
Ttc21b |
tetratricopeptide repeat domain 21B |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
CTD ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:25741868 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
|
|
NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903
|
|
G |
Wdr19 |
WD repeat domain 19 |
|
ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:22019273 PMID:23559409 PMID:23683095 PMID:25741868 PMID:26275793 PMID:27241786 PMID:28492532 PMID:28973083 PMID:29068549 PMID:31216405 More...
|
|
NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
|
|
|
G |
Ift80 |
intraflagellar transport 80 |
|
ISO ISS |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY OMIM:611263 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:11727201 PMID:12673792 PMID:16199547 PMID:17468754 PMID:17576681 PMID:19610081 PMID:19648123 PMID:20301601 PMID:21227999 PMID:23339108 PMID:25741868 PMID:28492532 PMID:29068549 PMID:30266093 PMID:30767363 More...
|
|
NCBI chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024
|
|
|
G |
Bag3 |
BAG cochaperone 3 |
|
ISO |
ClinVar Annotator: match by term: Short-rib polydactyly syndrome type I |
ClinVar |
PMID:21361913 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858
|
|
G |
Dync1h1 |
dynein cytoplasmic 1 heavy chain 1 |
|
ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
|
|
G |
Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
|
ISO ISS |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 | ClinVar Annotator: match by term: DYNC2H1-related disorder | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly OMIM:613091 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:6938784 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19361615 PMID:19442771 PMID:21211617 PMID:22499340 PMID:23339108 PMID:23456818 PMID:24033266 PMID:24123776 PMID:24183451 PMID:24759409 PMID:25326635 PMID:25356970 PMID:25410398 PMID:25492405 PMID:25741868 PMID:25741887 PMID:25741891 PMID:26489029 PMID:26826164 PMID:26874042 PMID:26938784 PMID:27353043 PMID:27925158 PMID:28492532 PMID:28518170 PMID:28832562 PMID:28973083 PMID:29068549 PMID:29453417 PMID:29947050 PMID:30190612 PMID:30655312 PMID:30773290 PMID:31415973 PMID:31730820 PMID:31935347 PMID:31943948 PMID:32494556 PMID:32753734 PMID:33532864 PMID:33694158 PMID:33755199 PMID:33875766 PMID:34040173 PMID:34529350 PMID:34627339 PMID:34740920 PMID:34788402 PMID:34853893 PMID:34958143 PMID:35587316 PMID:35627109 PMID:35929941 PMID:36352425 PMID:36599940 PMID:36797717 PMID:37091781 More...
|
|
NCBI chr 8:4,189,067...4,412,183
Ensembl chr 8:4,189,257...4,412,183
|
|
G |
Dync2i1 |
dynein 2 intermediate chain 1 |
|
ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29068549 |
|
NCBI chr 6:137,133,418...137,189,937
Ensembl chr 6:137,133,418...137,188,719
|
|
G |
Dync2i2 |
dynein 2 intermediate chain 2 |
|
ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
ClinVar |
PMID:29068549 |
|
NCBI chr 3:13,306,039...13,322,121
Ensembl chr 3:13,306,039...13,322,121
|
|
G |
Dynlt2b |
dynein light chain Tctex-type 2B |
|
ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
ClinVar |
PMID:25741868 |
|
NCBI chr11:68,359,138...68,367,573
Ensembl chr11:68,358,263...68,367,499
|
|
G |
Fam98c |
family with sequence similarity 98, member C |
|
ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
ClinVar |
|
|
NCBI chr 1:84,452,806...84,456,414
Ensembl chr 1:84,452,814...84,456,385
|
|
G |
Ift80 |
intraflagellar transport 80 |
|
ISS |
OMIM:613091 |
MouseDO |
|
|
NCBI chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024
|
|
G |
Kif24 |
kinesin family member 24 |
|
ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
ClinVar |
|
|
NCBI chr 5:56,561,019...56,628,040
Ensembl chr 5:56,561,154...56,628,025
|
|
G |
Nek1 |
NIMA-related kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
ClinVar |
PMID:21211617 PMID:25741868 |
|
NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723
|
|
G |
Pten |
phosphatase and tensin homolog |
|
ISO |
ClinVar Annotator: match by term: Short-rib polydactyly syndrome type I |
ClinVar |
PMID:19442771 PMID:19732863 PMID:21931168 PMID:23456818 PMID:25741868 PMID:26373788 PMID:30067075 PMID:37272928 More...
|
|
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
|
|
G |
Tmem256 |
transmembrane protein 256 |
|
ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
ClinVar |
|
|
NCBI chr10:54,559,030...54,560,146
Ensembl chr10:54,555,360...54,560,120
|
|
|
G |
Ttc21b |
tetratricopeptide repeat domain 21B |
|
ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 4 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18327258 PMID:18414213 PMID:21068128 PMID:21258341 PMID:22773737 PMID:23559409 PMID:24033266 PMID:24876116 PMID:25492405 PMID:25741868 PMID:26294094 PMID:26940125 PMID:27491411 PMID:28492532 PMID:29068549 PMID:29127259 PMID:30655312 PMID:33532864 PMID:36263627 More...
|
|
NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903
|
|
|
G |
Wdr19 |
WD repeat domain 19 |
|
ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 5 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19430947 PMID:22019273 PMID:23559409 PMID:23683095 PMID:24027799 PMID:24027800 PMID:24504730 PMID:25726036 PMID:25741868 PMID:26260382 PMID:26275793 PMID:26355662 PMID:26489029 PMID:27241786 PMID:27596865 PMID:28492532 PMID:28621010 PMID:28973083 PMID:29068549 PMID:29121203 PMID:29801666 PMID:30266093 PMID:30586318 PMID:31054281 PMID:31216405 PMID:31725169 PMID:31837199 PMID:32037395 PMID:32165824 PMID:32483926 PMID:33002628 PMID:33517396 PMID:33532864 PMID:33875766 PMID:34295353 PMID:34529350 PMID:34906470 PMID:36909829 More...
|
|
NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
|
|
|
G |
Slc26a2 |
solute carrier family 26 member 2 |
|
ISO |
ClinVar Annotator: match by term: Atelosteogenesis |
ClinVar |
|
|
NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
|
|
|
G |
Flnb |
filamin B |
|
ISO |
ClinVar Annotator: match by term: Atelosteogenesis type I | ClinVar Annotator: match by term: Spondylohumerofemoral hypoplasia CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:14991055 PMID:16752402 PMID:20301736 PMID:22190451 PMID:24624349 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006
|
|
|
G |
Slc26a2 |
solute carrier family 26 member 2 |
|
ISO |
ClinVar Annotator: match by term: Atelosteogenesis type 2 | ClinVar Annotator: match by term: Atelosteogenesis type II | ClinVar Annotator: match by term: De la Chapelle dysplasia | ClinVar Annotator: match by term: NEONATAL OSSEOUS DYSPLASIA I | ClinVar Annotator: match by term: Neonatal osseous dysplasia 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:4644462 PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 PMID:8702127 PMID:8723100 PMID:8931695 PMID:9342225 PMID:10465113 PMID:10482955 PMID:11241838 PMID:11303514 PMID:11448940 PMID:11558903 PMID:11565064 PMID:11727031 PMID:12525546 PMID:12966518 PMID:15294877 PMID:15316973 PMID:15720248 PMID:16642506 PMID:17393463 PMID:18708426 PMID:18925670 PMID:19344236 PMID:20219950 PMID:20301483 PMID:20301493 PMID:20301524 PMID:20525296 PMID:20981092 PMID:21077202 PMID:21077204 PMID:21155763 PMID:21228398 PMID:21922596 PMID:22052783 PMID:23840040 PMID:24033266 PMID:24598000 PMID:25741868 PMID:27065010 PMID:28492532 PMID:29024831 PMID:30423444 PMID:31880411 PMID:34064542 More...
|
|
NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
|
|
|
G |
Flnb |
filamin B |
|
ISO |
ClinVar Annotator: match by term: Atelosteogenesis type 3 | ClinVar Annotator: match by term: Atelosteogenesis type III |
OMIM ClinVar |
PMID:9536098 PMID:14991055 PMID:17576681 PMID:20301736 PMID:22190451 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006
|
|
|
G |
Sost |
sclerostin |
|
ISO |
ClinVar Annotator: match by term: Craniodiaphyseal dysplasia, autosomal dominant CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:17853455 PMID:21221996 PMID:25741868 |
|
NCBI chr10:86,912,517...86,915,561
Ensembl chr10:86,911,517...86,915,561
|
|
|
G |
Ankh |
ANKH inorganic pyrophosphate transport regulator |
|
ISO |
ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31130284 PMID:11326272 More...
|
RGD:734571 |
NCBI chr 2:78,153,027...78,280,181
Ensembl chr 2:78,153,026...78,280,187
|
|
G |
Otulin |
OTU deubiquitinase with linear linkage specificity |
|
ISO |
ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant |
ClinVar |
PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 PMID:25741868 PMID:28492532 PMID:31130284 More...
|
|
NCBI chr 2:78,290,437...78,316,633
Ensembl chr 2:78,290,959...78,316,422
|
|
|
G |
Clcnkb |
chloride voltage-gated channel Kb |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153
|
|
G |
Lrp5 |
LDL receptor related protein 5 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 1 | ClinVar Annotator: match by term: OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1002767 PMID:9536098 PMID:10434540 PMID:11701785 PMID:11719191 PMID:11741193 PMID:12015390 PMID:12054167 PMID:12579474 PMID:15024691 PMID:15077203 PMID:15201508 PMID:15619672 PMID:15767861 PMID:15777745 PMID:15824851 PMID:15824861 PMID:15850991 PMID:16234968 PMID:16252235 PMID:16679074 PMID:17137849 PMID:17202888 PMID:17223614 PMID:17306638 PMID:17307038 PMID:17576681 PMID:18058054 PMID:18349089 PMID:18521528 PMID:18588671 PMID:18602879 PMID:19324841 PMID:21528003 PMID:22456437 PMID:23318847 PMID:23441120 PMID:24423337 PMID:24706814 PMID:24715757 PMID:25711638 PMID:25741868 PMID:25920554 PMID:26348019 PMID:26467025 PMID:28192794 PMID:28378289 PMID:28420620 PMID:28492532 PMID:28494495 PMID:29168297 PMID:29181528 PMID:30283887 PMID:30452590 PMID:31039433 PMID:33118644 PMID:33939331 PMID:34639175 PMID:34860240 PMID:35106624 More...
|
|
NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
|
|
|
G |
Clcn7 |
chloride voltage-gated channel 7 |
|
ISO ISS |
ClinVar Annotator: match by term: ALBERS-SCHONBERG DISEASE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 2 OMIM:166600 |
OMIM ClinVar MouseDO |
PMID:1516225 PMID:9536098 PMID:11468688 PMID:11741829 PMID:14584882 PMID:15111300 PMID:16118345 PMID:17164308 PMID:17576681 PMID:19238435 PMID:19543743 PMID:19953639 PMID:20301306 PMID:21527911 PMID:21947783 PMID:21962762 PMID:23296056 PMID:23983121 PMID:25741868 PMID:26056022 PMID:26365571 PMID:28492532 PMID:29620724 PMID:30229577 PMID:30942407 PMID:31412925 PMID:32369273 PMID:32552793 PMID:32860008 More...
|
|
NCBI chr10:14,151,758...14,177,130
Ensembl chr10:14,151,758...14,177,130
|
|
|
G |
Plekhm1 |
pleckstrin homology and RUN domain containing M1 |
|
ISO |
ClinVar Annotator: match by term: Osteopetrosis, autosomal dominant 3 |
OMIM ClinVar |
PMID:17997709 PMID:25741868 |
|
NCBI chr10:88,313,837...88,366,182
Ensembl chr10:88,314,651...88,362,412
|
|
|
G |
Gja1 |
gap junction protein, alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive |
OMIM CTD ClinVar |
PMID:11146471 PMID:23951358 PMID:25741868 PMID:28492532 |
|
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
|
|
|
G |
Ltbp4 |
latent transforming growth factor beta binding protein 4 |
|
ISO |
ClinVar Annotator: match by term: Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities | ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type IC CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:16199547 PMID:19836010 PMID:22829427 PMID:24033266 PMID:25741868 PMID:25882708 PMID:28492532 PMID:31115174 PMID:35972031 More...
|
|
NCBI chr 1:82,600,136...82,634,346
Ensembl chr 1:82,600,136...82,632,178
|
|
|
G |
Ccdc154 |
coiled-coil domain containing 154 |
|
ISS |
OMIM:259700 |
MouseDO |
|
|
NCBI chr10:14,177,271...14,187,378
Ensembl chr10:14,177,278...14,187,253
|
|
G |
Plekhm1 |
pleckstrin homology and RUN domain containing M1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1 |
ClinVar |
PMID:35342016 PMID:36195244 |
|
NCBI chr10:88,313,837...88,366,182
Ensembl chr10:88,314,651...88,362,412
|
|
G |
Tcirg1 |
T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 |
|
ISO ISS |
DNA:deletions, snps:exons:multiple (human) ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1 | ClinVar Annotator: match by term: Marble bones autosomal recessive | ClinVar Annotator: match by term: TCIRG1-related condition OMIM:259700 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:9506970 PMID:9536098 PMID:10888887 PMID:10942435 PMID:11532986 PMID:12507890 PMID:12552563 PMID:12566520 PMID:14675409 PMID:15300850 PMID:16199547 PMID:16840787 PMID:17400532 PMID:17576681 PMID:18715141 PMID:19448635 PMID:19507210 PMID:20424301 PMID:21042819 PMID:22231430 PMID:22685294 PMID:23412864 PMID:23721911 PMID:24033266 PMID:24101165 PMID:24108692 PMID:24535484 PMID:24753205 PMID:24989235 PMID:25018813 PMID:25326635 PMID:25525159 PMID:25741868 PMID:25829125 PMID:26264438 PMID:26777052 PMID:27229898 PMID:28492532 PMID:28604959 PMID:28816234 PMID:29363653 PMID:29431110 PMID:29723947 PMID:30084437 PMID:30431110 PMID:30537558 PMID:30539151 PMID:30898715 PMID:31111556 PMID:31319225 PMID:31501239 PMID:31567691 PMID:31589614 PMID:31949009 PMID:31949762 PMID:32411386 PMID:34753502 PMID:35915932 PMID:10888887 More...
|
RGD:1599350 |
NCBI chr 1:201,127,034...201,138,787
Ensembl chr 1:201,127,034...201,138,742
|
|
|
G |
Tnfsf11 |
TNF superfamily member 11 |
|
ISO ISS |
OMIM:259710 ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 2 | ClinVar Annotator: match by term: Osteopetrosis osteoclast-poor |
OMIM MouseDO ClinVar |
PMID:17632511 PMID:20499338 PMID:21541994 PMID:23762088 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr15:53,673,850...53,705,325
Ensembl chr15:53,673,877...53,705,445
|
|
|
G |
Car2 |
carbonic anhydrase 2 |
|
ISO ISS |
ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis OMIM:259730 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:1301935 PMID:1542674 PMID:1928091 PMID:4624444 PMID:5041390 PMID:7627193 PMID:8127074 PMID:8128957 PMID:8834238 PMID:12566520 PMID:15300855 PMID:18060825 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 2:86,741,625...86,756,766
Ensembl chr 2:86,741,626...86,756,818
|
|
|
G |
Clcn7 |
chloride voltage-gated channel 7 |
|
ISO ISS |
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 4 | ClinVar Annotator: match by term: Osteopetrosis infantile malignant 2 OMIM:611490 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:1516225 PMID:11207362 PMID:11468688 PMID:11741829 PMID:14584882 PMID:16118345 PMID:16234969 PMID:17033731 PMID:17164308 PMID:19543743 PMID:19953639 PMID:20301306 PMID:21527911 PMID:21947783 PMID:21962762 PMID:23296056 PMID:23983121 PMID:25741868 PMID:26056022 PMID:26365571 PMID:28492532 PMID:29620724 PMID:30229577 PMID:30942407 PMID:31412925 PMID:32369273 PMID:32552793 PMID:32860008 PMID:199553639 More...
|
|
NCBI chr10:14,151,758...14,177,130
Ensembl chr10:14,151,758...14,177,130
|
|
|
G |
Ostm1 |
osteoclastogenesis associated transmembrane protein 1 |
|
ISO ISS |
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 5 | ClinVar Annotator: match by term: Osteopetrosis infantile malignant 3 OMIM:259720 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:12627228 PMID:16813530 PMID:25741868 PMID:28492532 PMID:28612835 PMID:34753502 More...
|
|
NCBI chr20:46,071,657...46,187,049
Ensembl chr20:46,153,075...46,187,023
|
|
|
G |
Plekhm1 |
pleckstrin homology and RUN domain containing M1 |
|
ISO ISS |
OMIM:611497 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 6 |
OMIM MouseDO CTD ClinVar |
PMID:17404618 PMID:25741868 |
|
NCBI chr10:88,313,837...88,366,182
Ensembl chr10:88,314,651...88,362,412
|
|
|
G |
Tnfrsf11a |
TNF receptor superfamily member 11A |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia | ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7 |
OMIM CTD ClinVar |
PMID:9536098 PMID:15231021 PMID:17576681 PMID:18606301 PMID:19940926 PMID:24033266 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695
|
|
|
G |
Snx10 |
sorting nexin 10 |
|
ISO ISS |
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 8 OMIM:615085 |
OMIM ClinVar MouseDO |
PMID:22499339 PMID:23123320 PMID:23280965 PMID:25212774 PMID:25590979 PMID:25741868 PMID:25811986 PMID:27187610 PMID:28492532 More...
|
|
NCBI chr 4:80,612,648...80,677,005
Ensembl chr 4:80,612,669...80,676,996
|
|
|
G |
Slc4a2 |
solute carrier family 4 member 2 |
|
ISO |
ClinVar Annotator: match by term: Osteopetrosis, autosomal recessive 9 |
OMIM ClinVar |
PMID:25741868 PMID:34668226 |
|
NCBI chr 4:10,736,419...10,754,407
Ensembl chr 4:10,736,425...10,752,965
|
|
|
G |
Ccn6 |
cellular communication network factor 6 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive spondyloepiphyseal dysplasia tarda |
ClinVar |
PMID:10471507 PMID:22791401 PMID:25741868 PMID:28492532 PMID:29258992 |
|
NCBI chr20:42,569,309...42,585,126
Ensembl chr20:42,569,309...42,585,126
|
|
|
G |
Cfap410 |
cilia and flagella associated protein 410 |
|
ISO |
ClinVar Annotator: match by term: Axial SMD | ClinVar Annotator: match by term: Axial spondylometaphyseal dysplasia |
OMIM ClinVar |
PMID:11702989 PMID:20503334 PMID:21910225 PMID:23105016 PMID:25741868 PMID:26167768 PMID:26974433 PMID:27548899 PMID:27596865 PMID:28041643 PMID:28422394 PMID:28492532 PMID:33307614 PMID:34906470 More...
|
|
NCBI chr20:10,687,863...10,694,736
Ensembl chr20:10,687,863...10,694,737
|
|
|
G |
Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
|
ISO |
ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome |
ClinVar |
PMID:25741868 PMID:26826164 PMID:28492532 PMID:29068549 |
|
NCBI chr 8:4,189,067...4,412,183
Ensembl chr 8:4,189,257...4,412,183
|
|
G |
Evc2 |
EvC ciliary complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome |
ClinVar |
PMID:17024374 PMID:19810119 PMID:19876929 PMID:25741868 PMID:28492532 PMID:29068549 More...
|
|
NCBI chr14:73,366,832...73,454,539
Ensembl chr14:73,367,963...73,454,516
|
|
G |
Ift80 |
intraflagellar transport 80 |
|
ISO |
ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29068549 |
|
NCBI chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024
|
|
G |
Nek1 |
NIMA-related kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome |
ClinVar |
PMID:25741868 PMID:29068549 |
|
NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723
|
|
G |
Ttc21b |
tetratricopeptide repeat domain 21B |
|
ISO |
ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome |
ClinVar |
PMID:18327258 PMID:21068128 PMID:21258341 PMID:23559409 PMID:24876116 PMID:25492405 PMID:25741868 PMID:27491411 PMID:28492532 PMID:29068549 More...
|
|
NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903
|
|
G |
Wdr19 |
WD repeat domain 19 |
|
ISO |
ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome |
ClinVar |
PMID:16199547 PMID:22019273 PMID:23559409 PMID:23683095 PMID:26275793 PMID:27241786 PMID:28492532 PMID:29068549 More...
|
|
NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
|
|
|
G |
Ankrd37 |
ankyrin repeat domain 37 |
|
ISO |
ClinVar Annotator: match by term: Hip dysplasia, Beukes type |
ClinVar |
PMID:25741868 |
|
NCBI chr16:46,268,933...46,271,971
Ensembl chr16:46,268,443...46,271,963
|
|
G |
Cfap96 |
cilia and flagella associated protein 96 |
|
ISO |
ClinVar Annotator: match by term: Hip dysplasia, Beukes type | ClinVar Annotator: match by term: Osteoarthropathy, premature degenerative, of hip |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33473208 |
|
NCBI chr16:46,291,075...46,315,616
Ensembl chr16:46,291,311...46,315,625
|
|
G |
Ufsp2 |
UFM1-specific peptidase 2 |
|
ISO |
ClinVar Annotator: match by term: Hip dysplasia, Beukes type | ClinVar Annotator: match by term: Osteoarthropathy, premature degenerative, of hip CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2389793 PMID:21228277 PMID:25741868 PMID:26428751 PMID:28492532 PMID:28892125 PMID:33473208 More...
|
|
NCBI chr16:46,272,016...46,291,080
Ensembl chr16:46,272,016...46,291,059
|
|
|
G |
Flnb |
filamin B |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Boomerang dysplasia | ClinVar Annotator: match by term: Boomerang-like skeletal dysplasia |
OMIM CTD ClinVar |
PMID:12955767 PMID:14991055 PMID:17510210 PMID:25741868 PMID:28492532 |
|
NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006
|
|
|
G |
Ltbp3 |
latent transforming growth factor beta binding protein 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25669657 |
|
NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
|
|
G |
Papss2 |
3'-phosphoadenosine 5'-phosphosulfate synthase 2 |
|
ISO |
ClinVar Annotator: match by term: Brachyolmia |
ClinVar |
PMID:22791835 PMID:23633440 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 1:230,454,314...230,539,332
Ensembl chr 1:230,454,426...230,539,331
|
|
G |
Trpv4 |
transient receptor potential cation channel, subfamily V, member 4 |
|
ISO |
ClinVar Annotator: match by term: Brachyolmia | ClinVar Annotator: match by term: Brachyrachia |
ClinVar |
PMID:4056805 PMID:8179305 PMID:18587396 PMID:19661060 PMID:19666518 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:21964574 PMID:22419508 PMID:22689196 PMID:22702953 PMID:22851605 PMID:24575025 PMID:24577120 PMID:24677493 PMID:24789864 PMID:24963089 PMID:25256292 PMID:25703509 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26170305 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27352967 PMID:27751652 PMID:28251916 PMID:28492532 PMID:28898540 PMID:29858556 PMID:30230566 PMID:30373780 PMID:31475037 PMID:32376792 PMID:34529350 PMID:37091313 PMID:39033378 More...
|
|
NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
|
|
|
G |
Trpv4 |
transient receptor potential cation channel, subfamily V, member 4 |
|
ISO |
ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia Maroteaux type |
ClinVar |
PMID:4056805 PMID:6628444 PMID:8179305 PMID:12884428 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:25741868 PMID:25802885 PMID:25900305 PMID:26110311 PMID:26170305 PMID:26249260 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27352967 PMID:27751652 PMID:28251916 PMID:28492532 PMID:29858556 PMID:30230566 PMID:30373780 PMID:34529350 PMID:39033378 More...
|
|
NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
|
|
|
G |
Trpv4 |
transient receptor potential cation channel, subfamily V, member 4 |
|
ISO |
ClinVar Annotator: match by term: Brachyolmia Type 3 | ClinVar Annotator: match by term: Brachyolmia autosomal dominant CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:4056805 PMID:8179305 PMID:18587396 PMID:19661060 PMID:19666518 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:21964574 PMID:22419508 PMID:22689196 PMID:22702953 PMID:22851605 PMID:24575025 PMID:24577120 PMID:24677493 PMID:24789864 PMID:24963089 PMID:25256292 PMID:25703509 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26170305 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27352967 PMID:27751652 PMID:28251916 PMID:28492532 PMID:28898540 PMID:29858556 PMID:30230566 PMID:30373780 PMID:31475037 PMID:32376792 PMID:34529350 PMID:37091313 PMID:39033378 More...
|
|
NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
|
|
|
G |
Ltbp3 |
latent transforming growth factor beta binding protein 3 |
|
ISO ISS |
ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome | ClinVar Annotator: match by term: Dental anomalies and short stature | ClinVar Annotator: match by term: Platyspondyly with amelogenesis imperfecta | ClinVar Annotator: match by term: Tooth agenesis, selective, 6 OMIM:601216 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:11790802 PMID:16199547 PMID:17576681 PMID:19213025 PMID:19344874 PMID:25640679 PMID:25669657 PMID:25741868 PMID:25899461 PMID:28492532 PMID:29625025 PMID:30887145 PMID:33082559 PMID:34906192 PMID:35998423 More...
|
|
NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
|
|
G |
Scyl1 |
SCY1 like pseudokinase 1 |
|
ISO |
ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:203,045,776...203,059,550
Ensembl chr 1:203,045,741...203,059,533
|
|
|
G |
Kif15 |
kinesin family member 15 |
|
ISO |
ClinVar Annotator: match by term: Braddock-carey syndrome 2 |
OMIM ClinVar |
PMID:25741868 PMID:28150392 |
|
NCBI chr 8:122,601,888...122,672,750
Ensembl chr 8:122,601,897...122,672,750
|
|
|
G |
Csf1r |
colony stimulating factor 1 receptor |
|
ISO |
ClinVar Annotator: match by term: Brain abnormalities, neurodegeneration, and dysosteosclerosis |
OMIM ClinVar |
PMID:8614507 PMID:22503135 PMID:23408870 PMID:24120500 PMID:24145216 PMID:24336230 PMID:25012610 PMID:25563800 PMID:25741868 PMID:28492532 PMID:30982608 PMID:30982609 PMID:32055602 PMID:36943150 More...
|
|
NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
|
|
|
G |
Ryr1 |
ryanodine receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Bronchomalacia |
ClinVar |
PMID:16835904 PMID:24033266 PMID:25741868 |
|
NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
|
|
|
G |
Fkbp10 |
FKBP prolyl isomerase 10 |
|
ISO |
ClinVar Annotator: match by term: Bruck syndrome |
ClinVar |
PMID:16199547 PMID:22689593 PMID:22949511 PMID:25741868 PMID:28492532 PMID:32770541 More...
|
|
NCBI chr10:85,345,434...85,357,998
Ensembl chr10:85,346,126...85,427,330
|
|
G |
Plod2 |
procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 |
|
ISO |
ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA WITH CONGENITAL JOINT CONTRACTURES |
ClinVar |
PMID:25086671 PMID:25741868 PMID:28492532 PMID:37076969 |
|
NCBI chr 8:93,084,548...93,167,255
Ensembl chr 8:93,084,513...93,167,255
|
|
|
G |
Col1a2 |
collagen type I alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: Bruck syndrome 1 |
ClinVar |
|
|
NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
|
|
G |
Fkbp10 |
FKBP prolyl isomerase 10 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis-like disorder | ClinVar Annotator: match by term: Bruck syndrome 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9129737 PMID:9481655 PMID:9927692 PMID:20362275 PMID:20696291 PMID:20839288 PMID:21567934 PMID:22689593 PMID:22949511 PMID:23712425 PMID:25741868 PMID:26538303 PMID:27509835 PMID:27717089 PMID:27762305 PMID:28492532 PMID:29620724 PMID:30715774 More...
|
|
NCBI chr10:85,345,434...85,357,998
Ensembl chr10:85,346,126...85,427,330
|
|
|
G |
Plod2 |
procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 |
|
ISO |
ClinVar Annotator: match by term: Bruck syndrome 2 | ClinVar Annotator: match by term: PLOD2-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9927692 PMID:12881513 PMID:15523624 PMID:22689593 PMID:25086671 PMID:25238597 PMID:25741868 PMID:28116328 PMID:28492532 PMID:29177700 PMID:29178448 PMID:31472299 PMID:31785789 PMID:32655337 PMID:33664768 PMID:33778323 PMID:35278031 PMID:37076969 More...
|
|
NCBI chr 8:93,084,548...93,167,255
Ensembl chr 8:93,084,513...93,167,255
|
|
|
G |
Eln |
elastin |
|
ISO |
|
RGD |
PMID:1629625 |
RGD:9585749 |
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
|
|
G |
Lemd3 |
LEM domain containing 3 |
no_association |
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata | ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata, isolated | ClinVar Annotator: match by term: LEMD3-related condition | ClinVar Annotator: match by term: Melorheostosis with osteopoikilosis | ClinVar Annotator: match by term: OSTEOPOIKILOSIS WITH OR WITHOUT MELORHEOSTOSIS DNA:nonsense mutation:cds:c.2203C>T(human) DNA:transversion mutation:intron: c.1921+1G>T(human) DNA:nonsense mutations:cds:c.2564G>A,c.1963C>T(human) |
OMIM CTD ClinVar RGD |
PMID:9295073 PMID:12749062 PMID:15489854 PMID:16470551 PMID:17087626 PMID:17223882 PMID:19438932 PMID:25741868 PMID:27382493 PMID:28434888 PMID:28492532 PMID:20678097 PMID:21985280 PMID:20083694 PMID:19438932 More...
|
RGD:11553844, RGD:11553843, RGD:11553842, RGD:11553840 |
NCBI chr 7:56,415,053...56,499,047
Ensembl chr 7:56,305,448...56,502,474
|
|
|
G |
A4galt |
alpha 1,4-galactosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Infantile cortical hyperostosis |
ClinVar |
PMID:20971946 PMID:28492532 |
|
NCBI chr 7:114,368,525...114,392,872
Ensembl chr 7:114,368,276...114,396,071
|
|
G |
Col1a1 |
collagen type I alpha 1 chain |
|
ISO |
DNA:mutation:exon:3040C>T (human) ClinVar Annotator: match by term: Caffey Disease | ClinVar Annotator: match by term: Infantile cortical hyperostosis CTD Direct Evidence: marker/mechanism DNA:missense mutation:exon:c.3040C>T(p.R836C)(human) |
ClinVar CTD OMIM RGD |
PMID:2037280 PMID:2542316 PMID:2794057 PMID:7691343 PMID:7695699 PMID:7942841 PMID:8079666 PMID:8218237 PMID:8408653 PMID:8456808 PMID:8613526 PMID:8669434 PMID:8808594 PMID:9016532 PMID:9067755 PMID:9295084 PMID:9443882 PMID:9536098 PMID:10739762 PMID:10931857 PMID:11090261 PMID:11113887 PMID:11317364 PMID:11432962 PMID:12362985 PMID:12590186 PMID:15024692 PMID:15024745 PMID:15241796 PMID:15741671 PMID:15864348 PMID:15931785 PMID:16199547 PMID:16786509 PMID:16879195 PMID:17078022 PMID:17211858 PMID:17309652 PMID:17392686 PMID:17576681 PMID:18028452 PMID:18272325 PMID:18412368 PMID:18553566 PMID:18670065 PMID:18704262 PMID:18996919 PMID:19344236 PMID:19358256 PMID:19491628 PMID:19550437 PMID:20696291 PMID:20981092 PMID:21249479 PMID:21567126 PMID:21594610 PMID:21667357 PMID:21884818 PMID:22206639 PMID:22589248 PMID:22753364 PMID:22855962 PMID:23265383 PMID:23443412 PMID:23587214 PMID:23692737 PMID:24123366 PMID:24147872 PMID:24185511 PMID:24390061 PMID:24668929 PMID:24767406 PMID:25086671 PMID:25146735 PMID:25525159 PMID:25597651 PMID:25741868 PMID:25944380 PMID:25963598 PMID:26177859 PMID:26188975 PMID:26235824 PMID:26467025 PMID:26627451 PMID:26633542 PMID:26712438 PMID:27011056 PMID:27044453 PMID:27060301 PMID:27132807 PMID:27146342 PMID:27484908 PMID:27509835 PMID:27510842 PMID:27519266 PMID:27549894 PMID:27748872 PMID:28102596 PMID:28116328 PMID:28378289 PMID:28492532 PMID:28725987 PMID:28810924 PMID:29499418 PMID:29543232 PMID:29595812 PMID:29695797 PMID:29946973 PMID:30614853 PMID:30665703 PMID:30692697 PMID:30715774 PMID:30886339 PMID:31304589 PMID:31447884 PMID:31584903 PMID:32166892 PMID:33110269 PMID:33228694 PMID:33928192 PMID:33939306 PMID:17309652 PMID:15864348 More...
|
RGD:5688296, RGD:11667069 |
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
|
|
|
G |
Sgms2 |
sphingomyelin synthase 2 |
|
ISO |
ClinVar Annotator: match by term: Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia | ClinVar Annotator: match by term: Doughnut lesions of skull, familial |
OMIM ClinVar |
PMID:19839042 PMID:25741868 PMID:28492532 PMID:30779713 PMID:32028018 |
|
NCBI chr 2:219,889,809...219,967,704
Ensembl chr 2:219,893,572...219,967,546
|
|
G |
Smc1a |
structural maintenance of chromosomes 1A |
|
ISO |
ClinVar Annotator: match by term: CDL |
ClinVar |
PMID:18414213 |
|
NCBI chr X:21,103,323...21,148,053
Ensembl chr X:21,103,282...21,148,056
|
|
|
G |
Kcnj2 |
potassium inwardly-rectifying channel, subfamily J, member 2 |
|
ISO |
ClinVar Annotator: match by term: Camptomelic dysplasia |
ClinVar |
PMID:9002675 PMID:10213041 PMID:11371614 PMID:15060123 PMID:25983619 PMID:28492532 More...
|
|
NCBI chr10:96,060,834...96,071,397
Ensembl chr10:96,060,821...96,071,445
|
|
G |
Sox9 |
SRY-box transcription factor 9 |
|
ISO ISS |
ClinVar Annotator: match by term: Acampomelic campomelic dysplasia | ClinVar Annotator: match by term: Acampomelic campomelic dysplasia with autosomal sex reversal | ClinVar Annotator: match by term: Campomelic Dysplasia | ClinVar Annotator: match by term: Campomelic dysplasia with autosomal sex reversal | ClinVar Annotator: match by term: Camptomelic dysplasia | ClinVar Annotator: match by term: SOX9-related condition OMIM:114290 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:1809232 PMID:7485151 PMID:7990924 PMID:8001137 PMID:8894698 PMID:9002675 PMID:9452058 PMID:9536098 PMID:10213041 PMID:10951468 PMID:11076045 PMID:11323423 PMID:11371614 PMID:12783851 PMID:12810722 PMID:15060123 PMID:15300742 PMID:15806394 PMID:16199547 PMID:17576681 PMID:19033726 PMID:19449405 PMID:19921652 PMID:20301724 PMID:20513132 PMID:21218044 PMID:21373255 PMID:21412441 PMID:21614988 PMID:23564514 PMID:24038782 PMID:24451061 PMID:25741868 PMID:25983619 PMID:26078652 PMID:26633542 PMID:26740947 PMID:27899157 PMID:28492532 PMID:29542186 PMID:31389106 PMID:32381727 PMID:32595695 PMID:34092239 More...
|
|
NCBI chr10:97,806,485...97,811,994
Ensembl chr10:97,806,485...97,811,994
|
|
|
G |
Sox9 |
SRY-box transcription factor 9 |
|
ISO |
ClinVar Annotator: match by term: Campomelic dysplasia with autosomal sex reversal |
ClinVar |
PMID:1809232 PMID:7485151 PMID:7990924 PMID:8001137 PMID:8894698 PMID:9002675 PMID:11076045 PMID:11323423 PMID:12810722 PMID:15806394 PMID:20301724 PMID:21412441 PMID:25741868 PMID:26078652 PMID:26633542 PMID:28492532 PMID:31389106 PMID:34092239 More...
|
|
NCBI chr10:97,806,485...97,811,994
Ensembl chr10:97,806,485...97,811,994
|
|
|
G |
Lrp5 |
LDL receptor related protein 5 |
|
ISO |
ClinVar Annotator: match by term: Diaphyseal dysplasia |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
|
|
G |
Mitf |
melanocyte inducing transcription factor |
|
ISS |
OMIM:131300 | OMIM:606631 |
MouseDO |
|
|
NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
|
|
G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
ClinVar Annotator: match by term: Diaphyseal dysplasia CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:10973241 PMID:11062463 PMID:11278244 PMID:11810278 PMID:12493741 PMID:12843182 PMID:15103729 PMID:15326622 PMID:16207846 PMID:17206397 PMID:17293864 PMID:18292811 PMID:18424453 PMID:19584867 PMID:19654961 PMID:20308061 PMID:23846138 PMID:24154985 PMID:25099136 PMID:25741868 PMID:28492532 PMID:30034812 PMID:30690794 PMID:30721323 PMID:32154989 PMID:35315241 PMID:35415221 PMID:36339419 More...
|
|
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
|
|
|
G |
Mymk |
myomaker, myoblast fusion factor |
|
ISO |
ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequences | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE |
ClinVar |
PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30016436 PMID:30065953 More...
|
|
NCBI chr 3:10,388,363...10,397,294
Ensembl chr 3:10,388,361...10,397,343
|
|
|
G |
Mymk |
myomaker, myoblast fusion factor |
|
ISO |
ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 1 |
OMIM ClinVar |
PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30065953 |
|
NCBI chr 3:10,388,363...10,397,294
Ensembl chr 3:10,388,361...10,397,343
|
|
|
G |
Mymx |
myomixer, myoblast fusion factor |
|
ISO |
ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2 |
OMIM ClinVar |
PMID:35642635 |
|
NCBI chr 9:15,397,086...15,398,263
Ensembl chr 9:15,397,144...15,398,263
|
|
|
G |
Ccdc107 |
coiled-coil domain containing 107 |
|
ISO |
ClinVar Annotator: match by term: Cartilage-hair hypoplasia |
ClinVar |
PMID:8034306 PMID:8444246 PMID:9156319 PMID:10026268 PMID:11207361 PMID:11940090 PMID:12107819 PMID:12888988 PMID:14569119 PMID:16097009 PMID:16254002 PMID:16838329 PMID:17701897 PMID:18804272 PMID:25741868 PMID:28094436 PMID:28492532 More...
|
|
NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918
|
|
|
G |
Iars2 |
isoleucyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia |
OMIM ClinVar |
PMID:8409271 PMID:25130867 PMID:25741868 PMID:28328135 PMID:28492532 PMID:30041933 PMID:30419932 PMID:33327715 PMID:33972171 More...
|
|
NCBI chr13:96,831,484...96,865,518
Ensembl chr13:96,831,484...96,865,501
|
|
|
G |
Kynu |
kynureninase |
|
ISO |
ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: MICROGNATHIA DIGITAL SYNDROME |
ClinVar |
PMID:25741868 PMID:31923704 PMID:33942433 |
|
NCBI chr 3:27,778,646...27,929,470
Ensembl chr 3:27,778,772...27,929,488
|
|
G |
Tgds |
TDP-glucose 4,6-dehydratase |
|
ISO |
ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: Index finger anomaly with Pierre Robin syndrome |
OMIM ClinVar |
PMID:9777339 PMID:18501694 PMID:22887726 PMID:25480037 PMID:25741868 PMID:26366375 PMID:28422407 PMID:28492532 PMID:31769200 PMID:31833187 More...
|
|
NCBI chr15:95,175,064...95,195,555
Ensembl chr15:95,174,608...95,195,554
|
|
|
G |
Add1 |
adducin 1 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182
|
|
G |
Atp5me |
ATP synthase membrane subunit e |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:1,319,868...1,320,996
Ensembl chr14:1,319,868...1,321,013
|
|
G |
Cplx1 |
complexin 1 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:1,184,677...1,216,392
|
|
G |
Ctbp1 |
C-terminal binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:77,455,580...77,482,821
Ensembl chr14:77,455,696...77,482,821
|
|
G |
Dgkq |
diacylglycerol kinase, theta |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:1,059,125...1,073,131
Ensembl chr14:1,059,170...1,073,131
|
|
G |
Dok7 |
docking protein 7 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386
|
|
G |
Fam193a |
family with sequence similarity 193, member A |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:76,250,103...76,382,525
Ensembl chr14:76,256,161...76,382,514
|
|
G |
Fam53a |
family with sequence similarity 53, member A |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:77,088,178...77,124,395
Ensembl chr14:77,090,723...77,124,395
|
|
G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
|
|
G |
Fgfrl1 |
fibroblast growth factor receptor-like 1 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:1,009,863...1,022,620
Ensembl chr14:1,009,786...1,021,928
|
|
G |
Gak |
cyclin G associated kinase |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:1,089,853...1,164,098
Ensembl chr14:1,089,866...1,216,398
|
|
G |
Grk4 |
G protein-coupled receptor kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:75,998,554...76,080,808
Ensembl chr14:76,006,218...76,080,693
|
|
G |
Haus3 |
HAUS augmin-like complex, subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:76,580,549...76,599,542
Ensembl chr14:76,580,546...76,752,463
|
|
G |
Hgfac |
HGF activator |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:75,707,588...75,714,182
Ensembl chr14:75,707,591...75,714,278
|
|
G |
Htt |
huntingtin |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:75,845,836...75,996,094
Ensembl chr14:75,845,836...75,995,070
|
|
G |
Idua |
alpha-L-iduronidase |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:1,031,588...1,059,494
Ensembl chr14:1,032,171...1,046,522
|
|
G |
Letm1 |
leucine zipper and EF-hand containing transmembrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:76,942,647...76,982,220
Ensembl chr14:76,942,729...76,984,904
|
|
G |
Maea |
macrophage erythroblast attacher, E3 ubiquitin ligase |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:77,357,261...77,390,683
Ensembl chr14:77,357,264...77,390,671
|
|
G |
Mfsd10 |
major facilitator superfamily domain containing 10 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:76,103,762...76,107,385
Ensembl chr14:76,103,815...76,107,377
|
|
G |
Msantd1 |
Myb/SANT DNA binding domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:75,832,368...75,845,687
Ensembl chr14:75,835,380...75,844,183
|
|
G |
Mxd4 |
Max dimerization protein 4 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:76,562,105...76,576,224
Ensembl chr14:76,561,774...76,576,221
|
|
G |
Nat8l |
N-acetyltransferase 8-like |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:76,756,077...76,762,712
Ensembl chr14:76,756,077...76,763,411
|
|
G |
Nelfa |
negative elongation factor complex member A |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:76,808,920...76,832,998
Ensembl chr14:76,808,870...76,832,994
|
|
G |
Nicol1 |
NELL2 interacting cell ontogeny regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:76,768,145...76,769,661
Ensembl chr14:76,768,146...76,773,575
|
|
G |
Nkx1-1 |
NK1 homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:77,296,676...77,300,575
Ensembl chr14:77,296,796...77,300,036
|
|
G |
Nop14 |
NOP14 nucleolar protein |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:76,081,313...76,102,454
Ensembl chr14:76,080,793...76,102,453
|
|
G |
Nsd2 |
nuclear receptor binding SET domain protein 2 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:76,833,179...76,911,304
Ensembl chr14:76,835,637...76,913,641
|
|
G |
Pcgf3 |
polycomb group ring finger 3 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:1,237,594...1,291,717
Ensembl chr14:1,233,947...1,291,793
|
|
G |
Pde6b |
phosphodiesterase 6B |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450
|
|
G |
Pigg |
phosphatidylinositol glycan anchor biosynthesis, class G |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:1,404,911...1,433,199
Ensembl chr14:1,406,798...1,433,187
|
|
G |
Poln |
DNA polymerase nu |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:76,579,983...76,752,460
Ensembl chr14:76,580,546...76,752,463
|
|
G |
Rgs12 |
regulator of G-protein signaling 12 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:75,715,925...75,824,012
Ensembl chr14:75,715,934...75,794,596
|
|
G |
Rit1 |
Ras-like without CAAX 1 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455
|
|
G |
Rnf212 |
ring finger protein 212 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:949,397...988,377
Ensembl chr14:949,448...987,831
|
|
G |
Rnf4 |
ring finger protein 4 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:76,401,292...76,423,270
Ensembl chr14:76,401,299...76,422,566
|
|
G |
Sh3bp2 |
SH3-domain binding protein 2 |
|
ISO ISS |
ClinVar Annotator: match by term: Cherubism | ClinVar Annotator: match by term: Fibrous dysplasia of jaw OMIM:118400 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:9536098 PMID:11381256 PMID:12900899 PMID:14577811 PMID:15507112 PMID:16199547 PMID:16786512 PMID:17218256 PMID:17321449 PMID:17576681 PMID:18596838 PMID:19017279 PMID:19576004 PMID:20002873 PMID:20117257 PMID:21045962 PMID:21794028 PMID:22153076 PMID:22153077 PMID:22640988 PMID:22795151 PMID:23298620 PMID:24033266 PMID:24382142 PMID:24608212 PMID:24916406 PMID:25144740 PMID:25741868 PMID:26064398 PMID:27272835 PMID:28492532 PMID:28644570 PMID:28904407 PMID:30236129 PMID:34573280 PMID:11381256 More...
|
RGD:1599339 |
NCBI chr14:76,176,097...76,213,300
Ensembl chr14:76,176,101...76,213,251
|
|
G |
Slbp |
stem-loop histone mRNA binding protein |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:77,071,441...77,081,911
Ensembl chr14:77,071,632...77,081,906
|
|
G |
Slc26a1 |
solute carrier family 26 member 1 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:1,040,565...1,045,851
Ensembl chr14:1,040,243...1,045,849
|
|
G |
Slc49a3 |
solute carrier family 49 member 3 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:1,305,091...1,319,723
Ensembl chr14:1,305,680...1,314,132
|
|
G |
Spon2 |
spondin 2 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:77,505,695...77,518,001
Ensembl chr14:77,511,901...77,517,996
|
|
G |
Tacc3 |
transforming, acidic coiled-coil containing protein 3 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:77,051,209...77,065,343
Ensembl chr14:77,051,215...77,065,219
|
|
G |
Tmem129 |
transmembrane protein 129, E3 ubiquitin ligase |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:77,065,391...77,070,871
Ensembl chr14:77,065,841...77,070,865
|
|
G |
Tmem175 |
transmembrane protein 175 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:1,073,410...1,089,764
Ensembl chr14:1,073,523...1,089,819
|
|
G |
Tnip2 |
TNFAIP3 interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:76,228,350...76,245,553
Ensembl chr14:76,228,371...76,275,265
|
|
G |
Uvssa |
UV-stimulated scaffold protein A |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:77,309,188...77,351,922
Ensembl chr14:77,314,056...77,351,903
|
|
G |
Zfyve28 |
zinc finger FYVE-type containing 28 |
|
ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
|
NCBI chr14:76,468,424...76,554,039
Ensembl chr14:76,468,424...76,554,039
|
|
|
G |
Erf |
Ets2 repressor factor |
|
ISO |
ClinVar Annotator: match by term: Chitayat syndrome |
OMIM ClinVar |
PMID:8418638 PMID:23354439 PMID:25741868 PMID:26097063 PMID:27738187 PMID:28492532 PMID:28808027 PMID:29758562 PMID:30569521 PMID:30728880 PMID:30758909 PMID:32370745 PMID:32592542 More...
|
|
NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
|
|
|
G |
Myl3 |
myosin light chain 3 |
|
ISO |
ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type |
ClinVar |
|
|
NCBI chr 8:110,738,669...110,744,814
Ensembl chr 8:110,738,661...110,744,816
|
|
G |
Pth1r |
parathyroid hormone 1 receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Blomstrand lethal osteochondrodysplasia | ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type |
OMIM CTD ClinVar |
PMID:3975110 PMID:9268097 PMID:9536098 PMID:9649554 PMID:9745456 PMID:10523019 PMID:17164305 PMID:17576681 PMID:18559376 PMID:21404329 PMID:23771181 PMID:25741868 PMID:28492532 PMID:31986066 More...
|
|
NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729
|
|
|
G |
Arsl |
arylsulfatase L |
susceptibility |
ISO |
|
RGD |
PMID:9409863 |
RGD:1599238 |
NCBI chr 2:119,038,803...119,047,579
Ensembl chr 2:119,038,921...119,046,846
|
|
G |
Ebp |
EBP, cholestenol delta-isomerase |
|
ISO |
CDPX2, OMIM:302960;DNA:point mutation:exon:W29X, R63X CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18176751 PMID:10391218 |
RGD:734908 |
NCBI chr X:14,299,427...14,305,826
Ensembl chr X:14,299,448...14,305,826
|
|
|
G |
Bpnt2 |
3'(2'), 5'-bisphosphate nucleotidase 2 |
|
ISO ISS |
ClinVar Annotator: match by term: Chondrodysplasia with joint dislocations, gPAPP type OMIM:614078 |
OMIM ClinVar MouseDO |
PMID:21549340 PMID:21834032 PMID:22887726 PMID:25741868 PMID:28492532 PMID:31130284 More...
|
|
NCBI chr 5:17,775,684...17,802,570
Ensembl chr 5:17,772,608...17,802,570
|
|
|
G |
Hdac6 |
histone deacetylase 6 |
|
ISO |
ClinVar Annotator: match by term: X-linked dominant chondrodysplasia, Chassaing-Lacombe type |
OMIM ClinVar |
PMID:16001442 PMID:20181727 PMID:25741868 PMID:28492532 |
|
NCBI chr X:14,550,645...14,572,445
Ensembl chr X:14,551,044...14,572,441
|
|
|
G |
Hhat |
hedgehog acyltransferase |
|
ISO ISS |
OMIM:600092 ClinVar Annotator: match by term: Chondrodysplasia-pseudohermaphroditism syndrome | ClinVar Annotator: match by term: Pseudohermaphrodism and chondrodysplasia |
OMIM MouseDO ClinVar |
PMID:24784881 PMID:25741868 PMID:28492532 PMID:30912300 |
|
NCBI chr13:104,024,507...104,283,580
Ensembl chr13:104,010,916...104,282,893
|
|
|
G |
Agt |
angiotensinogen |
|
ISO |
ClinVar Annotator: match by term: Large fontanelles |
ClinVar |
PMID:25741868 PMID:35005812 |
|
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
|
|
G |
Runx2 |
RUNX family transcription factor 2 |
|
ISO ISS |
DNA:insertion, point mutation:exon:p.W283X (human) ClinVar Annotator: match by term: CLEIDOCRANIAL DYSPLASIA 1 | ClinVar Annotator: match by term: Cleidocranial dysostosis | ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, dental anomalies only | ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, with brachydactyly OMIM:119600 | OMIM:216330 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:9182765 PMID:9207800 PMID:10521292 PMID:10545612 PMID:10980549 PMID:11768584 PMID:11857736 PMID:12081718 PMID:12196916 PMID:12424590 PMID:14688224 PMID:15629837 PMID:15952089 PMID:16199547 PMID:16221346 PMID:17022082 PMID:19515746 PMID:19767586 PMID:20357738 PMID:20648631 PMID:20702542 PMID:21734816 PMID:22023169 PMID:23290074 PMID:24138303 PMID:24222232 PMID:24634175 PMID:25741868 PMID:26380986 PMID:27993330 PMID:28056872 PMID:28492532 PMID:28505335 PMID:28738062 PMID:29891876 PMID:30391578 PMID:31548836 PMID:32360898 PMID:33987976 PMID:9182765 More...
|
RGD:1601649 |
NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167
|
|
G |
Supt3h |
SPT3 homolog, SAGA and STAGA complex component |
|
ISO |
ClinVar Annotator: match by term: Cleidocranial dysostosis |
ClinVar |
PMID:33987976 |
|
NCBI chr 9:15,878,296...16,206,768
Ensembl chr 9:15,868,287...16,206,706
|
|
G |
Tbx1 |
T-box transcription factor 1 |
|
I | |