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G |
B9d1 |
B9 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008
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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 |
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NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732
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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 |
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NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
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C2cd3 |
C2 domain containing 3 centriole elongation regulator |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:25741868 PMID:26092869 |
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NCBI chr 1:154,715,151...154,812,955
Ensembl chr 1:154,715,310...154,812,520
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Cep120 |
centrosomal protein 120 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
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NCBI chr18:47,127,979...47,189,964
Ensembl chr18:47,127,981...47,189,964
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Cep126 |
centrosomal protein 126 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr 8:5,200,576...5,267,740
Ensembl chr 8:5,218,509...5,267,467
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Cfap300 |
cilia and flagella associated protein 300 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr 8:5,180,180...5,198,840
Ensembl chr 8:5,180,675...5,198,807
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G |
Cilk1 |
ciliogenesis associated kinase 1 |
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ISO |
ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
ClinVar |
PMID:27466187 |
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NCBI chr 8:78,984,075...79,042,695
Ensembl chr 8:78,984,258...79,042,691
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Col2a1 |
collagen type II alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Short ribs |
ClinVar |
PMID:25741868 |
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NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
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Csrnp3 |
cysteine and serine rich nuclear protein 3 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 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...
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NCBI chr 3:50,498,379...50,695,598
Ensembl chr 3:50,498,633...50,685,950
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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 |
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NCBI chr 8:4,412,266...4,433,380
Ensembl chr 8:4,412,221...4,433,367
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Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
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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:9536098 PMID:16199547 PMID:17576681 PMID:19361615 PMID:19442771 PMID:21211617 PMID:22499340 PMID:23339108 PMID:23456818 PMID:24033266 PMID:24123776 PMID:24759409 PMID:24781753 PMID:25356970 PMID:25492405 PMID:25741868 PMID:25982780 PMID:26826164 PMID:26938784 PMID:27925158 PMID:28492532 PMID:28832562 PMID:28973083 PMID:29068549 PMID:29453417 PMID:29947050 PMID:31413057 PMID:32753734 More...
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NCBI chr 8:4,189,257...4,412,183
Ensembl chr 8:4,189,257...4,412,183
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Dync2i1 |
dynein 2 intermediate chain 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jeune thoracic dystrophy |
CTD ClinVar |
PMID:29068549 |
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NCBI chr 6:137,133,418...137,189,937
Ensembl chr 6:137,133,418...137,188,719
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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:29068549 |
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NCBI chr 3:13,306,039...13,322,121
Ensembl chr 3:13,306,039...13,322,121
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Dync2li1 |
dynein cytoplasmic 2 light intermediate chain 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
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NCBI chr 6:9,992,537...10,025,403
Ensembl chr 6:9,992,541...10,025,336
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G |
Dynlt2b |
dynein light chain Tctex-type 2B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
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NCBI chr11:68,359,138...68,367,573
Ensembl chr11:68,358,263...68,367,499
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Evc2 |
EvC ciliary complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:17024374 PMID:19251731 PMID:19810119 PMID:19876929 PMID:28492532 PMID:29068549 More...
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NCBI chr14:73,366,832...73,454,539
Ensembl chr14:73,367,963...73,454,516
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Short ribs |
ClinVar |
PMID:1908846 PMID:7773297 PMID:8858131 PMID:9677066 PMID:10073901 PMID:10471491 PMID:10696568 PMID:11241532 PMID:11529856 PMID:12833394 PMID:15772091 PMID:16841094 PMID:18642369 PMID:25157968 PMID:25606676 PMID:25741868 PMID:26619011 PMID:28492532 More...
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NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Flvcr1 |
FLVCR heme transporter 1 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
ClinVar |
PMID:27666822 |
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NCBI chr13:102,586,263...102,608,647
Ensembl chr13:102,586,257...102,608,661
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Fuz |
fuzzy planar cell polarity protein |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:29068549 |
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NCBI chr 1:95,379,542...95,384,532
Ensembl chr 1:95,379,587...95,384,530
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Galnt3 |
polypeptide N-acetylgalactosaminyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 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...
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NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268
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Grk2 |
G protein-coupled receptor kinase 2 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:33200460 |
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NCBI chr 1:201,581,480...201,601,580
Ensembl chr 1:201,581,480...201,601,582
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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 More...
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NCBI chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433
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Ift172 |
intraflagellar transport 172 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860
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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 |
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NCBI chr 6:105,729,734...105,806,257
Ensembl chr 6:105,729,792...105,806,257
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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 |
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NCBI chr 3:151,672,505...151,696,975
Ensembl chr 3:151,672,493...151,696,980
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Ift74 |
intraflagellar transport 74 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:29068549 |
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NCBI chr 5:109,460,372...109,563,839
Ensembl chr 5:109,474,255...109,563,833
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Ift80 |
intraflagellar transport 80 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome |
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 More...
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NCBI chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024
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Ift81 |
intraflagellar transport 81 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:25741868 PMID:26275418 PMID:27666822 PMID:28492532 |
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NCBI chr12:33,957,744...34,037,164
Ensembl chr12:33,957,806...34,037,057
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Ift88 |
intraflagellar transport 88 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:29068549 |
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NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147
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Intu |
inturned planar cell polarity protein |
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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 |
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NCBI chr 2:123,600,972...123,685,331
Ensembl chr 2:123,609,807...123,682,676
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Lbr |
lamin B receptor |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome |
ClinVar |
PMID:25741868 PMID:29068549 |
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NCBI chr13:93,539,360...93,564,065
Ensembl chr13:93,538,920...93,564,017
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G |
LOC690035 |
similar to Protein KIAA0586 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jeune thoracic dystrophy |
CTD ClinVar |
PMID:25741868 |
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NCBI chr 6:89,622,711...89,725,951
Ensembl chr 6:89,623,699...89,725,962
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G |
Matn3 |
matrilin 3 |
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ISO |
ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:31,748,383...31,768,101
Ensembl chr 6:31,748,474...31,768,101
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Mmp1 |
matrix metallopeptidase 1 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Mmp10 |
matrix metallopeptidase 10 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr 8:4,689,840...4,697,748
Ensembl chr 8:4,689,840...4,697,748
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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 |
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NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611
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G |
Mmp13 |
matrix metallopeptidase 13 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
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G |
Mmp20 |
matrix metallopeptidase 20 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr 8:4,789,415...4,830,035
Ensembl chr 8:4,789,415...4,830,035
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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 |
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NCBI chr 8:4,745,887...4,755,806
Ensembl chr 8:4,745,883...4,755,806
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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 |
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NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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G |
Mmp7 |
matrix metallopeptidase 7 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902
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Mmp8 |
matrix metallopeptidase 8 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr 8:4,724,009...4,732,956
Ensembl chr 8:4,724,029...4,733,520
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Nek1 |
NIMA-related kinase 1 |
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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:28492532 PMID:29068549 PMID:22499340 PMID:21211617 More...
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RGD:11072153, RGD:11069733 |
NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723
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RGD1304728 |
similar to 4933427D14Rik protein |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29138412 PMID:31816441 |
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NCBI chr10:56,783,869...56,832,668
Ensembl chr10:56,783,775...56,832,968
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Scn1a |
sodium voltage-gated channel alpha subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 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...
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NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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Scn2a |
sodium voltage-gated channel alpha subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 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...
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NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
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G |
Scn3a |
sodium voltage-gated channel alpha subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 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...
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|
NCBI chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119
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G |
Scn9a |
sodium voltage-gated channel alpha subunit 9 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 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...
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NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
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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
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G |
Smarcad1 |
SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1` |
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ISS |
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MouseDO |
|
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NCBI chr 4:94,311,441...94,379,184
Ensembl chr 4:94,311,489...94,372,563
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G |
Sptan1 |
spectrin, alpha, non-erythrocytic 1 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:29068549 |
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NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046
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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 |
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NCBI chr 8:4,922,098...4,952,228
Ensembl chr 8:4,922,098...4,952,224
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G |
Traf3ip1 |
TRAF3 interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:28492532 PMID:29068549 |
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NCBI chr 9:92,073,622...92,110,427
Ensembl chr 9:92,073,640...92,108,977
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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 |
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NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
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Ttc21b |
tetratricopeptide repeat domain 21B |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome |
CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:17576681 PMID:18327258 PMID:18414213 PMID:18930999 PMID:19304393 PMID:19400878 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:26068938 PMID:26489029 PMID:26940125 PMID:27491411 PMID:28492532 PMID:29068549 PMID:29127259 PMID:30655312 PMID:32173348 PMID:33532864 More...
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NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903
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Wdr19 |
WD repeat domain 19 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's 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 More...
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NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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Wdr35 |
WD repeat domain 35 |
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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 |
CTD ClinVar |
PMID:22486404 PMID:24033266 PMID:25741868 PMID:25914204 PMID:27158779 PMID:28332779 PMID:28400947 PMID:28492532 PMID:29068549 More...
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NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029
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Yap1 |
Yes1 associated transcriptional regulator |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010
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Abcg5 |
ATP binding cassette subfamily G member 5 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 |
ClinVar |
PMID:26077881 |
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NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
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Csrnp3 |
cysteine and serine rich nuclear protein 3 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 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...
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NCBI chr 3:50,498,379...50,695,598
Ensembl chr 3:50,498,633...50,685,950
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Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:28492532 PMID:29068549 More...
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NCBI chr 8:4,189,257...4,412,183
Ensembl chr 8:4,189,257...4,412,183
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Dync2li1 |
dynein cytoplasmic 2 light intermediate chain 1 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:26077881 PMID:28492532 PMID:32815859 |
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NCBI chr 6:9,992,537...10,025,403
Ensembl chr 6:9,992,541...10,025,336
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Galnt3 |
polypeptide N-acetylgalactosaminyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 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...
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NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268
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Ift140 |
intraflagellar transport 140 |
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ISS |
OMIM:208500 |
MouseDO |
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NCBI chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433
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Lbr |
lamin B receptor |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:25741868 PMID:29068549 |
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NCBI chr13:93,539,360...93,564,065
Ensembl chr13:93,538,920...93,564,017
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Nek1 |
NIMA-related kinase 1 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 |
ClinVar |
PMID:25741868 |
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NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723
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Scn1a |
sodium voltage-gated channel alpha subunit 1 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 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...
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NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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Scn2a |
sodium voltage-gated channel alpha subunit 2 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 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...
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NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
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Scn3a |
sodium voltage-gated channel alpha subunit 3 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 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...
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NCBI chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119
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Scn9a |
sodium voltage-gated channel alpha subunit 9 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 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...
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NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
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Ttc21b |
tetratricopeptide repeat domain 21B |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
CTD ClinVar |
PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 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...
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NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903
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Wdr19 |
WD repeat domain 19 |
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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 More...
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NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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Wdr35 |
WD repeat domain 35 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:22486404 PMID:24033266 PMID:25914204 PMID:28332779 PMID:28492532 PMID:29068549 More...
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NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029
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Ift80 |
intraflagellar transport 80 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2 |
OMIM ClinVar |
PMID:11727201 PMID:12673792 PMID:16199547 PMID:17468754 PMID:19610081 PMID:19648123 PMID:20301601 PMID:21227999 PMID:23339108 PMID:25741868 PMID:28492532 PMID:29068549 PMID:30767363 More...
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NCBI chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024
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Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 | ClinVar Annotator: match by term: DYNC2H1-Related Disorder | ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Verma-Naumoff type | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly |
OMIM ClinVar |
PMID:19361615 PMID:19442771 PMID:21211617 PMID:22499340 PMID:23339108 PMID:23456818 PMID:24033266 PMID:24123776 PMID:24759409 PMID:25326635 PMID:25356970 PMID:25741868 PMID:25741887 PMID:25741891 PMID:26826164 PMID:26938784 PMID:27925158 PMID:28492532 PMID:28832562 PMID:28973083 PMID:29068549 PMID:29453417 PMID:30655312 PMID:32753734 PMID:33532864 More...
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NCBI chr 8:4,189,257...4,412,183
Ensembl chr 8:4,189,257...4,412,183
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Dync2i1 |
dynein 2 intermediate chain 1 |
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ISO |
ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Verma-Naumoff type |
ClinVar |
PMID:29068549 |
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NCBI chr 6:137,133,418...137,189,937
Ensembl chr 6:137,133,418...137,188,719
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Dync2i2 |
dynein 2 intermediate chain 2 |
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ISO |
ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Verma-Naumoff type |
ClinVar |
PMID:29068549 |
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NCBI chr 3:13,306,039...13,322,121
Ensembl chr 3:13,306,039...13,322,121
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Dynlt2b |
dynein light chain Tctex-type 2B |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
ClinVar |
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NCBI chr11:68,359,138...68,367,573
Ensembl chr11:68,358,263...68,367,499
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Fam98c |
family with sequence similarity 98, member C |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
ClinVar |
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NCBI chr 1:84,452,806...84,456,414
Ensembl chr 1:84,452,814...84,456,385
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Ift80 |
intraflagellar transport 80 |
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ISS |
OMIM:613091 |
MouseDO |
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NCBI chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024
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Kif24 |
kinesin family member 24 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
ClinVar |
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NCBI chr 5:56,561,019...56,628,040
Ensembl chr 5:56,561,154...56,628,025
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Nek1 |
NIMA-related kinase 1 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
ClinVar |
PMID:21211617 PMID:25741868 |
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NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723
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Tmem256 |
transmembrane protein 256 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
ClinVar |
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NCBI chr10:54,559,030...54,560,146
Ensembl chr10:54,555,360...54,560,120
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Ttc21b |
tetratricopeptide repeat domain 21B |
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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:26940125 PMID:27491411 PMID:28492532 PMID:29068549 PMID:29127259 PMID:32173348 PMID:33532864 More...
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NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903
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Wdr19 |
WD repeat domain 19 |
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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:24027800 PMID:24504730 PMID:25726036 PMID:25741868 PMID:26260382 PMID:26275793 PMID:26489029 PMID:27241786 PMID:27596865 PMID:28492532 PMID:28621010 PMID:28973083 PMID:29068549 PMID:29801666 PMID:30266093 PMID:31837199 PMID:32037395 PMID:32165824 PMID:33532864 More...
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NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome |
ClinVar |
PMID:26826164 PMID:28492532 PMID:29068549 |
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NCBI chr 8:4,189,257...4,412,183
Ensembl chr 8:4,189,257...4,412,183
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Evc2 |
EvC ciliary complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome |
ClinVar |
PMID:17024374 PMID:19810119 PMID:19876929 PMID:28492532 PMID:29068549 |
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NCBI chr14:73,366,832...73,454,539
Ensembl chr14:73,367,963...73,454,516
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Ift80 |
intraflagellar transport 80 |
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ISO |
ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome |
ClinVar |
PMID:28492532 PMID:29068549 |
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NCBI chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024
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G |
Nek1 |
NIMA-related kinase 1 |
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ISO |
ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome |
ClinVar |
PMID:29068549 |
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NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723
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G |
Ttc21b |
tetratricopeptide repeat domain 21B |
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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:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903
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Wdr19 |
WD repeat domain 19 |
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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...
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NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Saldino-Noonan Syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome Saldino-Noonan type |
ClinVar |
PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:28492532 PMID:29068549 More...
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NCBI chr 8:4,189,257...4,412,183
Ensembl chr 8:4,189,257...4,412,183
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Abhd1 |
abhydrolase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
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NCBI chr 6:25,422,526...25,427,514
Ensembl chr 6:25,422,526...25,427,514
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G |
Adcy3 |
adenylate cyclase 3 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
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NCBI chr 6:27,100,089...27,203,686
Ensembl chr 6:27,124,828...27,203,686
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Adgrf3 |
adhesion G protein-coupled receptor F3 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
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NCBI chr 6:26,133,097...26,144,656
Ensembl chr 6:26,133,192...26,144,601
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Agbl5 |
AGBL carboxypeptidase 5 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
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NCBI chr 6:25,472,333...25,492,173
Ensembl chr 6:25,472,333...25,490,738
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Asxl2 |
ASXL transcriptional regulator 2 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
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NCBI chr 6:26,425,017...26,514,899
Ensembl chr 6:26,425,954...26,507,477
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Atraid |
all-trans retinoic acid-induced differentiation factor |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
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NCBI chr 6:25,315,236...25,319,804
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G |
Cad |
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
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NCBI chr 6:25,292,133...25,315,176
Ensembl chr 6:25,292,133...25,319,861
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G |
Cenpa |
centromere protein A |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
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NCBI chr 6:25,700,142...25,711,767
Ensembl chr 6:25,700,142...25,711,675
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G |
Cenpo |
centromere protein O |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
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NCBI chr 6:27,203,642...27,218,394
Ensembl chr 6:27,188,537...27,218,314
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G |
Cgref1 |
cell growth regulator with EF hand domain 1 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
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NCBI chr 6:25,431,846...25,443,853
Ensembl chr 6:25,431,799...25,443,852
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G |
Cib4 |
calcium and integrin binding family member 4 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
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NCBI chr 6:25,842,605...25,903,509
Ensembl chr 6:25,842,622...25,917,206
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G |
Dnajc27 |
DnaJ heat shock protein family (Hsp40) member C27 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:27,068,713...27,098,449
Ensembl chr 6:27,068,686...27,098,449
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|
G |
Dnajc5g |
DnaJ heat shock protein family (Hsp40) member C5 gamma |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:25,260,087...25,264,251
Ensembl chr 6:25,260,088...25,264,152
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|
G |
Dnmt3a |
DNA methyltransferase 3 alpha |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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|
G |
Dpysl5 |
dihydropyrimidinase-like 5 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:25,575,104...25,659,422
Ensembl chr 6:25,575,104...25,659,422
|
|
G |
Drc1 |
dynein regulatory complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:26,025,004...26,059,438
Ensembl chr 6:26,025,005...26,059,414
|
|
G |
Dtnb |
dystrobrevin, beta |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:26,566,418...26,763,467
Ensembl chr 6:26,566,925...26,766,335
|
|
G |
Efr3b |
EFR3 homolog B |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:26,947,436...27,021,113
Ensembl chr 6:26,948,540...27,020,933
|
|
G |
Eif2b4 |
eukaryotic translation initiation factor 2B subunit delta |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:25,183,177...25,188,832
Ensembl chr 6:25,183,186...25,188,829
|
|
G |
Emilin1 |
elastin microfibril interfacer 1 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:25,455,974...25,463,736
Ensembl chr 6:25,445,298...25,463,698
|
|
G |
Fam166c |
family with sequence similarity 166 member C |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:25,905,294...25,923,615
Ensembl chr 6:25,905,294...25,923,615
|
|
G |
Fndc4 |
fibronectin type III domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:25,077,155...25,080,812
Ensembl chr 6:25,077,349...25,080,675
|
|
G |
Garem2 |
GRB2 associated regulator of MAPK1 subtype 2 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:26,228,965...26,255,576
Ensembl chr 6:26,230,048...26,241,762
|
|
G |
Gckr |
glucokinase regulator |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:25,044,592...25,075,834
Ensembl chr 6:25,045,100...25,075,654
|
|
G |
Gtf3c2 |
general transcription factor IIIC subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:25,196,439...25,221,338
Ensembl chr 6:25,197,268...25,220,490
|
|
G |
Hadha |
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869
|
|
G |
Hadhb |
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869
|
|
G |
Ift172 |
intraflagellar transport 172 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with polydactyly | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 without polydactyly |
OMIM ClinVar |
PMID:9536098 PMID:11030072 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24140113 PMID:24290075 PMID:25640679 PMID:25664603 PMID:25741868 PMID:26092869 PMID:26893459 PMID:28492532 PMID:28559085 PMID:29068549 PMID:31054281 PMID:31475041 PMID:31587445 PMID:32451492 More...
|
|
NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860
|
|
G |
Itsn2 |
intersectin 2 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:27,616,645...27,727,373
Ensembl chr 6:27,600,406...27,727,124
|
|
G |
Kcnk3 |
potassium two pore domain channel subfamily K member 3 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:25,761,487...25,799,153
Ensembl chr 6:25,763,228...25,799,153
|
|
G |
Khk |
ketohexokinase |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:25,445,298...25,455,834
Ensembl chr 6:25,445,300...25,455,717
|
|
G |
Kif3c |
kinesin family member 3C |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:26,367,092...26,406,033
Ensembl chr 6:26,366,531...26,406,130
|
|
G |
Krtcap3 |
keratinocyte associated protein 3 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:9536098 PMID:11030072 PMID:16199547 PMID:17576681 PMID:24140113 PMID:25664603 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 6:25,120,938...25,122,522
Ensembl chr 6:25,120,938...25,122,507
|
|
G |
Mapre3 |
microtubule-associated protein, RP/EB family, member 3 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:25,513,800...25,558,876
Ensembl chr 6:25,513,800...25,558,881
|
|
G |
Mpv17 |
mitochondrial inner membrane protein MPV17 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:25,221,668...25,236,241
Ensembl chr 6:25,222,896...25,236,244
|
|
G |
Ncoa1 |
nuclear receptor coactivator 1 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:27,232,609...27,507,992
Ensembl chr 6:27,232,611...27,475,664
|
|
G |
Nrbp1 |
nuclear receptor binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:25,122,635...25,133,209
Ensembl chr 6:25,122,635...25,133,182
|
|
G |
Ost4 |
oligosaccharyltransferase complex subunit 4, non-catalytic |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:25,471,254...25,472,478
|
|
G |
Otof |
otoferlin |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:25,928,018...26,024,631
Ensembl chr 6:25,928,055...26,024,631
|
|
G |
Pomc |
proopiomelanocortin |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
|
|
G |
Ppm1g |
protein phosphatase, Mg2+/Mn2+ dependent, 1G |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:25,153,556...25,173,763
Ensembl chr 6:25,153,556...25,173,761
|
|
G |
Preb |
prolactin regulatory element binding |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:25,418,805...25,422,594
Ensembl chr 6:25,418,776...25,422,590
|
|
G |
Prr30 |
proline rich 30 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:25,415,069...25,417,582
Ensembl chr 6:25,414,868...25,417,585
|
|
G |
Ptrhd1 |
peptidyl-tRNA hydrolase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:27,218,417...27,221,805
Ensembl chr 6:27,218,417...27,221,805
|
|
G |
Rab10 |
RAB10, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:26,267,081...26,319,739
Ensembl chr 6:26,266,859...26,320,193
|
|
G |
Selenoi |
selenoprotein I |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:26,073,127...26,111,326
Ensembl chr 6:26,072,648...26,111,314
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|
G |
Slc30a3 |
solute carrier family 30 member 3 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:25,264,310...25,284,720
Ensembl chr 6:25,275,528...25,284,720
|
|
G |
Slc35f6 |
solute carrier family 35, member F6 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:25,725,822...25,737,720
Ensembl chr 6:25,725,819...25,737,730
|
|
G |
Slc5a6 |
solute carrier family 5 member 6 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:25,319,187...25,331,713
Ensembl chr 6:25,320,442...25,331,712
|
|
G |
Snx17 |
sorting nexin 17 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:25,177,528...25,183,001
Ensembl chr 6:25,177,391...25,183,030
|
|
G |
Tcf23 |
transcription factor 23 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:25,397,889...25,406,639
Ensembl chr 6:25,397,937...25,405,880
|
|
G |
Tmem214 |
transmembrane protein 214 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:25,501,575...25,510,444
Ensembl chr 6:25,502,698...25,510,444
|
|
G |
Trim54 |
tripartite motif-containing 54 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:25,239,340...25,258,511
Ensembl chr 6:25,239,340...25,258,511
|
|
G |
Ucn |
urocortin |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:25,238,120...25,238,950
Ensembl chr 6:25,238,120...25,238,950
|
|
G |
Zfp513 |
zinc finger protein 513 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:25,174,178...25,177,442
Ensembl chr 6:25,174,178...25,177,439
|
|
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G |
Dync2i2 |
dynein 2 intermediate chain 2 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 11 with or without polydactyly |
OMIM ClinVar |
PMID:19610081 PMID:24183449 PMID:24183451 PMID:25741868 PMID:28379358 PMID:28492532 PMID:29068549 More...
|
|
NCBI chr 3:13,306,039...13,322,121
Ensembl chr 3:13,306,039...13,322,121
|
|
G |
Sptan1 |
spectrin, alpha, non-erythrocytic 1 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 11 with or without polydactyly |
ClinVar |
PMID:24183449 PMID:24183451 PMID:28492532 |
|
NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046
|
|
|
G |
Cep120 |
centrosomal protein 120 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 13 with or without polydactyly |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25251415 PMID:25361962 PMID:25741868 PMID:27208211 PMID:28492532 PMID:29847808 More...
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|
NCBI chr18:47,127,979...47,189,964
Ensembl chr18:47,127,981...47,189,964
|
|
|
G |
LOC690035 |
similar to Protein KIAA0586 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 14 with polydactyly |
OMIM ClinVar |
PMID:2080096 PMID:9536098 PMID:17576681 PMID:20301500 PMID:24033266 PMID:25741868 PMID:26026149 PMID:26096313 PMID:26166481 PMID:26386044 PMID:26386247 PMID:26437029 PMID:28125082 PMID:28492532 PMID:29068549 PMID:30120217 PMID:32381069 PMID:32581362 More...
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|
NCBI chr 6:89,622,711...89,725,951
Ensembl chr 6:89,623,699...89,725,962
|
|
|
G |
Abcg5 |
ATP binding cassette subfamily G member 5 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 15 with polydactyly |
ClinVar |
PMID:26077881 |
|
NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
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G |
Dync2li1 |
dynein cytoplasmic 2 light intermediate chain 1 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 15 with polydactyly |
OMIM ClinVar |
PMID:8960501 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26077881 PMID:26130459 PMID:28492532 PMID:28857138 PMID:32815859 More...
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|
NCBI chr 6:9,992,537...10,025,403
Ensembl chr 6:9,992,541...10,025,336
|
|
|
G |
Ift52 |
intraflagellar transport 52 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 16 with or without polydactyly |
OMIM ClinVar |
PMID:10942423 PMID:25741868 PMID:26880018 PMID:27466190 PMID:28492532 PMID:30242358 PMID:31042281 More...
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|
NCBI chr 3:151,672,505...151,696,975
Ensembl chr 3:151,672,493...151,696,980
|
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|
G |
Dynlt2b |
dynein light chain Tctex-type 2B |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 17 with or without polydactyly |
OMIM ClinVar |
PMID:25741868 PMID:26044572 PMID:28492532 |
|
NCBI chr11:68,359,138...68,367,573
Ensembl chr11:68,358,263...68,367,499
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G |
Ift43 |
intraflagellar transport 43 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 18 with polydactyly |
OMIM ClinVar |
PMID:21378380 PMID:25741868 PMID:28400947 PMID:28492532 |
|
NCBI chr 6:105,729,734...105,806,257
Ensembl chr 6:105,729,792...105,806,257
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G |
Ift81 |
intraflagellar transport 81 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 19 with or without polydactyly |
OMIM 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
|
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G |
Intu |
inturned planar cell polarity protein |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 20 with polydactyly | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7/20 with polydactyly, digenic |
OMIM ClinVar |
PMID:25741868 PMID:27158779 PMID:28492532 |
|
NCBI chr 2:123,600,972...123,685,331
Ensembl chr 2:123,609,807...123,682,676
|
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G |
Wdr35 |
WD repeat domain 35 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7/20 with polydactyly, digenic |
ClinVar |
PMID:25741868 PMID:27158779 PMID:28400947 PMID:29068549 |
|
NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029
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G |
RGD1304728 |
similar to 4933427D14Rik protein |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 21 without polydactyly |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29138412 PMID:31816441 PMID:34016807 |
|
NCBI chr10:56,783,869...56,832,668
Ensembl chr10:56,783,775...56,832,968
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G |
Cbr4 |
carbonyl reductase 4 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:28492532 |
|
NCBI chr16:28,629,928...28,684,230
Ensembl chr16:28,617,224...28,645,712
|
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G |
Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:25741868 PMID:26938784 PMID:28492532 PMID:29068549 |
|
NCBI chr 8:4,189,257...4,412,183
Ensembl chr 8:4,189,257...4,412,183
|
|
G |
Dync2li1 |
dynein cytoplasmic 2 light intermediate chain 1 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:29068549 |
|
NCBI chr 6:9,992,537...10,025,403
Ensembl chr 6:9,992,541...10,025,336
|
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G |
Evc |
EvC ciliary complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:9066272 PMID:10700162 PMID:10700184 PMID:14217223 PMID:17024374 PMID:19810119 PMID:23220543 PMID:25741868 PMID:28492532 PMID:29068549 More...
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|
NCBI chr14:73,456,181...73,498,955
Ensembl chr14:73,456,222...73,498,099
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G |
Evc2 |
EvC ciliary complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:12571802 PMID:17024374 PMID:19810119 PMID:19876929 PMID:21199751 PMID:22190900 PMID:23026208 PMID:25525159 PMID:25741868 PMID:28492532 PMID:29068549 More...
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NCBI chr14:73,366,832...73,454,539
Ensembl chr14:73,367,963...73,454,516
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|
G |
Fuz |
fuzzy planar cell polarity protein |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:29068549 |
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NCBI chr 1:95,379,542...95,384,532
Ensembl chr 1:95,379,587...95,384,530
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G |
Ift172 |
intraflagellar transport 172 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:24140113 PMID:25741868 PMID:28492532 PMID:29068549 |
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NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860
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G |
Ift74 |
intraflagellar transport 74 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:9536098 PMID:17576681 PMID:28492532 PMID:29068549 |
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NCBI chr 5:109,460,372...109,563,839
Ensembl chr 5:109,474,255...109,563,833
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G |
Ift80 |
intraflagellar transport 80 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:19648123 PMID:28492532 PMID:29068549 PMID:30266093 |
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NCBI chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024
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G |
Nek1 |
NIMA-related kinase 1 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
OMIM ClinVar |
PMID:3014367 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21211617 PMID:22499340 PMID:23757202 PMID:24033266 PMID:25492405 PMID:25741868 PMID:26945885 PMID:27455347 PMID:27530628 PMID:28089114 PMID:28123176 PMID:28492532 PMID:28710492 PMID:29068549 PMID:30408610 PMID:33445179 More...
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NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723
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G |
Palld |
palladin, cytoskeletal associated protein |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:28492532 |
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NCBI chr16:28,228,006...28,621,349
Ensembl chr16:27,981,354...28,621,337
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G |
Sh3rf1 |
SH3 domain containing ring finger 1 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:28492532 |
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NCBI chr16:28,735,522...28,901,690
Ensembl chr16:28,735,440...28,901,644
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G |
Traf3ip1 |
TRAF3 interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:16199547 PMID:28492532 PMID:29068549 |
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NCBI chr 9:92,073,622...92,110,427
Ensembl chr 9:92,073,640...92,108,977
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G |
Ttc21b |
tetratricopeptide repeat domain 21B |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:29068549 |
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NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903
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G |
Wdr35 |
WD repeat domain 35 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28870638 PMID:29068549 |
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NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029
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G |
Matn3 |
matrilin 3 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7 with or without polydactyly |
ClinVar |
PMID:28492532 |
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NCBI chr 6:31,748,383...31,768,101
Ensembl chr 6:31,748,474...31,768,101
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G |
Wdr35 |
WD repeat domain 35 |
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ISO |
ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7 with or without polydactyly |
OMIM ClinVar |
PMID:17935248 PMID:21473986 PMID:22486404 PMID:24033266 PMID:25741868 PMID:25908617 PMID:25914204 PMID:27158779 PMID:28332779 PMID:28400947 PMID:28492532 PMID:29068549 More...
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NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029
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G |
Dync2i1 |
dynein 2 intermediate chain 1 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 8 with or without polydactyly |
OMIM ClinVar |
PMID:9068549 PMID:9536098 PMID:17576681 PMID:23910462 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr 6:137,133,418...137,189,937
Ensembl chr 6:137,133,418...137,188,719
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G |
Ift140 |
intraflagellar transport 140 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome | ClinVar Annotator: match by term: Short-rib thoracic dysplasia without polydactyly |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22503633 PMID:23418020 PMID:24009529 PMID:24698627 PMID:25640679 PMID:25741868 PMID:26216056 PMID:26359340 PMID:26766544 PMID:26968735 PMID:27058611 PMID:28041643 PMID:28288023 PMID:28492532 PMID:28512305 PMID:28559085 PMID:28724397 PMID:28991257 PMID:29068549 PMID:29111861 PMID:29688594 PMID:29758562 PMID:30773290 PMID:31047384 PMID:31054281 PMID:31630094 PMID:31736247 PMID:31980526 PMID:32037395 PMID:32531858 PMID:32860008 PMID:33532864 More...
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NCBI chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433
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G |
Ptx4 |
pentraxin 4 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 PMID:29688594 |
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NCBI chr10:14,140,028...14,146,163
Ensembl chr10:14,140,304...14,144,846
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G |
Telo2 |
telomere maintenance 2 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 PMID:29688594 |
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NCBI chr10:14,120,491...14,135,729
Ensembl chr10:14,120,818...14,135,698
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G |
Tmem204 |
transmembrane protein 204 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr10:14,076,518...14,104,849
Ensembl chr10:14,076,519...14,101,920
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G |
Wdr19 |
WD repeat domain 19 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:25741868 PMID:33532864 |
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NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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