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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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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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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 |
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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:7695699 PMID:8218237 PMID:9016532 PMID:17078022 PMID:19344236 PMID:25741868 PMID:28492532 PMID:29620724 More...
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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: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...
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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 |
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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 8:4,412,266...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 | ClinVar Annotator: match by term: Short ribs DNA:missense mutations:cds:multiple(human) |
CTD ClinVar RGD |
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:29096039 PMID:29453417 PMID:29620724 PMID:29947050 PMID:30655312 PMID:30773290 PMID:31413057 PMID:31415973 PMID:31943948 PMID:32494556 PMID:32753734 PMID:33875766 PMID:22499340 More...
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RGD:11072153 |
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:25741868 PMID:28492532 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:28492532 PMID:29068549 PMID:29241935 PMID:32576942 More...
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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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G |
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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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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G |
Evc2 |
EvC ciliary complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:17024374 PMID:19251731 PMID:19810119 PMID:19876929 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 |
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:20301540 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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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...
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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 |
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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:34429528 PMID:34890546 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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G |
Ift43 |
intraflagellar transport 43 |
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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: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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G |
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 PMID:33957996 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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G |
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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G |
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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G |
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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G |
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:28492532 PMID:28600779 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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G |
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 |
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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 8:4,581,785...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 |
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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 8:4,745,887...4,755,806
Ensembl chr 8:4,745,883...4,755,806
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G |
Mmp3 |
matrix metallopeptidase 3 |
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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 8:4,640,397...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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G |
Mmp8 |
matrix metallopeptidase 8 |
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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 8:4,724,009...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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G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
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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...
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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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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...
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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 |
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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...
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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 |
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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...
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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 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:27666822 |
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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:24183451 PMID:28492532 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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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: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
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: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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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 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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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: 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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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 |
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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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G |
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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G |
Csrnp3 |
cysteine and serine rich nuclear protein 3 |
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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...
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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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G |
Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
|
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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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...
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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 |
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...
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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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G |
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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G |
Lbr |
lamin B receptor |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28600779 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 |
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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G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
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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...
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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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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...
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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: 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...
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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: 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...
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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 |
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...
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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 |
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 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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G |
Wdr35 |
WD repeat domain 35 |
|
ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:22486404 PMID:24033266 PMID:25741868 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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G |
Ift80 |
intraflagellar transport 80 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17468754 PMID:17576681 PMID:19610081 PMID:19648123 PMID:21227999 PMID:23339108 PMID:25741868 PMID:28492532 PMID:29068549 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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G |
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 thoracic dysplasia 3 with or without polydactyly |
OMIM 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: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:29947050 PMID:30655312 PMID:30773290 PMID:31415973 PMID:31943948 PMID:32494556 PMID:32753734 PMID:33532864 PMID:33875766 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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G |
Dync2i1 |
dynein 2 intermediate chain 1 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
ClinVar |
PMID:25741868 PMID:28492532 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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G |
Dync2i2 |
dynein 2 intermediate chain 2 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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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:26940125 PMID:27491411 PMID:28492532 PMID:29068549 PMID:29127259 PMID:30655312 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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G |
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: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:29801666 PMID:30266093 PMID:31054281 PMID:31725169 PMID:31837199 PMID:32037395 PMID:32165824 PMID:33002628 PMID:33517396 PMID:33532864 PMID:34295353 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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G |
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:25741868 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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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...
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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 |
Ift80 |
intraflagellar transport 80 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome |
ClinVar |
PMID:25741868 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 |
|
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...
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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 |
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...
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NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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G |
Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
|
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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G |
Fndc4 |
fibronectin type III domain containing 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 6:25,077,155...25,080,812
Ensembl chr 6:25,077,349...25,080,675
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G |
Gckr |
glucokinase regulator |
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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 6:25,044,592...25,075,834
Ensembl chr 6:25,045,100...25,075,654
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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:25168386 PMID:25640679 PMID:25664603 PMID:25741868 PMID:26092869 PMID:26893459 PMID:28492532 PMID:28559085 PMID:29068549 PMID:31054281 PMID:31475041 PMID:31587445 PMID:32451492 PMID:32783370 PMID:32939031 PMID:33393400 PMID:34567078 More...
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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 |
Krtcap3 |
keratinocyte associated protein 3 |
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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 PMID:33393400 More...
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NCBI chr 6:25,120,938...25,122,522
Ensembl chr 6:25,120,938...25,122,507
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Dync2i2 |
dynein 2 intermediate chain 2 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 11 with or without polydactyly |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:19610081 PMID:24183449 PMID:24183451 PMID:25741868 PMID:28379358 PMID:28492532 PMID:29068549 PMID:29241935 PMID:32576942 PMID:33578420 More...
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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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Sptan1 |
spectrin, alpha, non-erythrocytic 1 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 11 with or without polydactyly |
ClinVar |
PMID:24183449 PMID:24183451 PMID:28379358 PMID:28492532 PMID:29068549 PMID:33578420 More...
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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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Cep120 |
centrosomal protein 120 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 13 with or without polydactyly |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25251415 PMID:25361962 PMID:25741868 PMID:27208211 PMID:28492532 PMID:29847808 PMID:30866059 PMID:30988386 More...
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NCBI chr18:47,127,979...47,189,964
Ensembl chr18:47,127,981...47,189,964
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LOC690035 |
similar to Protein KIAA0586 |
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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
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Abcg5 |
ATP binding cassette subfamily G member 5 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 15 with polydactyly |
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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Dync2li1 |
dynein cytoplasmic 2 light intermediate chain 1 |
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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
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Ift52 |
intraflagellar transport 52 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 16 with or without polydactyly |
OMIM ClinVar |
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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Dynlt2b |
dynein light chain Tctex-type 2B |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 17 with or without polydactyly |
OMIM ClinVar |
PMID:25741868 PMID:26044572 PMID:28492532 |
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NCBI chr11:68,359,138...68,367,573
Ensembl chr11:68,358,263...68,367,499
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Ift43 |
intraflagellar transport 43 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 18 with polydactyly |
OMIM ClinVar |
PMID:25741868 PMID:28400947 PMID:28492532 |
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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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Ift81 |
intraflagellar transport 81 |
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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 |
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NCBI chr12:33,957,744...34,037,164
Ensembl chr12:33,957,806...34,037,057
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Intu |
inturned planar cell polarity protein |
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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 |
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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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Wdr35 |
WD repeat domain 35 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7/20 with polydactyly, digenic |
ClinVar |
PMID:25741868 PMID:27158779 PMID:28400947 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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RGD1304728 |
similar to 4933427D14Rik protein |
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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 PMID:34523780 More...
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NCBI chr10:56,783,869...56,832,668
Ensembl chr10:56,783,775...56,832,968
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Cbr4 |
carbonyl reductase 4 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:22499340 PMID:28492532 PMID:29068549 |
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NCBI chr16:28,629,928...28,684,230
Ensembl chr16:28,617,224...28,645,712
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Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:16199547 PMID:23339108 PMID:25741868 PMID:26938784 PMID:28492532 PMID:29068549 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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G |
Dync2li1 |
dynein cytoplasmic 2 light intermediate chain 1 |
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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 6:9,992,537...10,025,403
Ensembl chr 6:9,992,541...10,025,336
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Evc |
EvC ciliary complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:9066272 PMID:9536098 PMID:10700162 PMID:10700184 PMID:14217223 PMID:17024374 PMID:17576681 PMID:19810119 PMID:23220543 PMID:25741868 PMID:28492532 PMID:29068549 PMID:31028937 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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Evc2 |
EvC ciliary complex subunit 2 |
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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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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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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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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:28935222 PMID:29068549 PMID:29431110 PMID:30093141 PMID:30408610 PMID:32462798 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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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:22499340 PMID:28492532 PMID:29068549 |
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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:22499340 PMID:28492532 PMID:29068549 |
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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:21945076 PMID:26487268 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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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: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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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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Matn3 |
matrilin 3 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7 with or without polydactyly |
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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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:25492405 PMID:25640679 PMID:25741868 PMID:28422394 PMID:28492532 PMID:29068549 PMID:30320547 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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Abca3 |
ATP binding cassette subfamily A member 3 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745
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G |
Adcy9 |
adenylate cyclase 9 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:11,138,966...11,262,067
Ensembl chr10:11,139,446...11,262,066
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G |
Amdhd2 |
amidohydrolase domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,187,579...13,196,148
Ensembl chr10:13,187,578...13,196,095
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G |
Anks3 |
ankyrin repeat and sterile alpha motif domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:10,614,953...10,635,815
Ensembl chr10:10,615,047...10,635,806
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G |
Antkmt |
adenine nucleotide translocase lysine methyltransferase |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,812,274...14,814,798
Ensembl chr10:14,812,269...14,814,193
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G |
Arhgdig |
Rho GDP dissociation inhibitor gamma |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:15,219,049...15,221,257
Ensembl chr10:15,219,049...15,221,213
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Atp6v0c |
ATPase H+ transporting V0 subunit C |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,196,204...13,202,580
Ensembl chr10:13,196,204...13,201,500
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G |
Axin1 |
axin 1 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:15,163,684...15,215,615
Ensembl chr10:15,163,684...15,215,615
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G |
Baiap3 |
BAI1-associated protein 3 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,260,269...14,273,019
Ensembl chr10:14,260,269...14,273,019
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G |
Bicdl2 |
BICD family like cargo adaptor 2 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,691,610...12,700,049
Ensembl chr10:12,691,610...12,700,049
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G |
Bricd5 |
BRICHOS domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,498,726...13,500,259
Ensembl chr10:13,498,381...13,500,259
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G |
Cacna1h |
calcium voltage-gated channel subunit alpha1 H |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,390,104...14,448,204
Ensembl chr10:14,390,113...14,448,376
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G |
Capn15 |
calpain 15 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,972,807...14,999,411
Ensembl chr10:14,972,800...14,999,508
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G |
Caskin1 |
CASK interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,512,684...13,533,380
Ensembl chr10:13,513,465...13,533,377
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G |
Ccdc154 |
coiled-coil domain containing 154 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,177,271...14,187,378
Ensembl chr10:14,177,278...14,187,253
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G |
Ccdc78 |
coiled-coil domain containing 78 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,808,355...14,812,284
Ensembl chr10:14,807,710...14,812,282
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G |
Ccnf |
cyclin F |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,253,073...13,279,140
Ensembl chr10:13,253,380...13,279,101
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G |
Cdip1 |
cell death-inducing p53 target 1 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:10,773,538...10,796,979
Ensembl chr10:10,774,705...10,796,980
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G |
Chtf18 |
chromosome transmission fidelity factor 18 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,743,006...14,751,044
Ensembl chr10:14,742,621...14,751,050
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G |
Ciao3 |
cytosolic iron-sulfur assembly component 3 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,795,888...14,804,953
Ensembl chr10:14,795,961...14,804,950
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G |
Clcn7 |
chloride voltage-gated channel 7 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,151,758...14,177,130
Ensembl chr10:14,151,758...14,177,130
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G |
Cldn6 |
claudin 6 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,710,302...12,713,987
Ensembl chr10:12,709,960...12,715,973
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G |
Cldn9 |
claudin 9 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,714,137...12,715,568
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G |
Cluap1 |
clusterin associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:11,587,963...11,619,711
Ensembl chr10:11,588,017...11,619,711
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G |
Coro7 |
coronin 7 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:10,880,299...10,941,001
Ensembl chr10:10,885,196...10,941,001
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G |
Cramp1 |
cramped chromatin regulator homolog 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,983,781...14,032,409
Ensembl chr10:13,983,866...14,032,392
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G |
Crebbp |
CREB binding protein |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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G |
Decr2 |
2,4-dienoyl-CoA reductase 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:15,104,907...15,113,281
Ensembl chr10:15,002,926...15,118,479
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G |
Dnaaf8 |
dynein axonemal assembly factor 8 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,600,747...10,614,891
Ensembl chr10:10,600,734...10,614,891
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G |
Dnaja3 |
DnaJ heat shock protein family (Hsp40) member A3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,855,510...10,880,175
Ensembl chr10:10,854,732...10,880,161
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G |
Dnase1 |
deoxyribonuclease 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,498,930...11,505,151
Ensembl chr10:11,498,931...11,501,869
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G |
Dnase1l2 |
deoxyribonuclease 1 like 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,471,850...13,473,447
Ensembl chr10:13,471,479...13,473,763
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G |
E4f1 |
E4F transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,471,478...13,495,018
Ensembl chr10:13,474,456...13,485,974
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G |
Eci1 |
enoyl-CoA delta isomerase 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,456,715...13,470,061
Ensembl chr10:13,456,563...13,470,061
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G |
Elob |
elongin B |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,848,830...12,853,897
Ensembl chr10:12,848,827...12,853,635
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G |
Eme2 |
essential meiotic structure-specific endonuclease subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,913,216...13,915,991
Ensembl chr10:13,913,221...13,915,968
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G |
Fahd1 |
fumarylacetoacetate hydrolase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,873,539...13,874,978
Ensembl chr10:13,873,527...13,875,012
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G |
Fam234a |
family with sequence similarity 234, member A |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:15,232,267...15,263,529
Ensembl chr10:15,232,278...15,263,488
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G |
Fbxl16 |
F-box and leucine-rich repeat protein 16 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,829,453...14,841,739
Ensembl chr10:14,829,449...14,840,986
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G |
Flywch1 |
FLYWCH-type zinc finger 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,774,644...12,794,373
Ensembl chr10:12,774,653...12,794,267
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G |
Flywch2 |
FLYWCH family member 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,798,757...12,807,082
Ensembl chr10:12,798,762...12,806,439
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G |
Gfer |
growth factor, augmenter of liver regeneration |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,718,489...13,721,782
Ensembl chr10:13,718,489...13,720,869
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G |
Glis2 |
GLIS family zinc finger 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,951,157...10,978,524
Ensembl chr10:10,951,371...10,971,578
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G |
Gng13 |
G protein subunit gamma 13 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,741,179...14,743,083
Ensembl chr10:14,741,239...14,743,083
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G |
Gnptg |
N-acetylglucosamine-1-phosphate transferase subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,252,186...14,257,128
Ensembl chr10:14,251,136...14,257,096
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G |
Hagh |
hydroxyacyl glutathione hydrolase |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,874,883...13,889,527
Ensembl chr10:13,875,241...13,889,504
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G |
Haghl |
hydroxyacylglutathione hydrolase-like |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,804,957...14,809,495
Ensembl chr10:14,804,997...14,807,665
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G |
Hcfc1r1 |
host cell factor C1 regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,705,139...12,706,852
Ensembl chr10:12,705,077...12,706,850
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G |
Hmox2 |
heme oxygenase 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,797,076...10,831,178
Ensembl chr10:10,797,055...10,831,148
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G |
Hs3st6 |
heparan sulfate-glucosamine 3-sulfotransferase 6 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,781,999...13,788,133
Ensembl chr10:13,781,993...13,788,133
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G |
Ift140 |
intraflagellar transport 140 |
|
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:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:24183451 PMID:24698627 PMID:25640679 PMID:25741868 PMID:26216056 PMID:26359340 PMID:26766544 PMID:26968735 PMID:27058611 PMID:27874174 PMID:28041643 PMID:28288023 PMID:28492532 PMID:28512305 PMID:28559085 PMID:28724397 PMID:28844315 PMID:28991257 PMID:29068549 PMID:29111861 PMID:29688594 PMID:29706353 PMID:29758562 PMID:30479745 PMID:30773290 PMID:30902645 PMID:31047384 PMID:31054281 PMID:31130284 PMID:31213501 PMID:31456290 PMID:31630094 PMID:31736247 PMID:31980526 PMID:32037395 PMID:32531858 PMID:32860008 PMID:33452237 PMID:33532864 PMID:33576794 PMID:33946315 PMID:34429528 PMID:34890546 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 |
Igfals |
insulin-like growth factor binding protein, acid labile subunit |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677
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G |
Jmjd8 |
jumonji domain containing 8 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,848,965...14,851,881
Ensembl chr10:14,848,980...14,851,879
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|
G |
Jpt2 |
Jupiter microtubule associated homolog 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,963,135...13,983,212
Ensembl chr10:13,963,137...13,983,170
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G |
Kctd5 |
potassium channel tetramerization domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,079,216...13,105,197
Ensembl chr10:13,079,214...13,105,209
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G |
Kremen2 |
kringle containing transmembrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,763,345...12,767,854
Ensembl chr10:12,763,397...12,767,854
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G |
Lmf1 |
lipase maturation factor 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,597,726...14,684,071
Ensembl chr10:14,597,594...14,684,119
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|
G |
LOC100361104 |
CG10869-like |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,707,529...10,750,893
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|
G |
Luc7l |
LUC7-like |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:15,273,340...15,307,131
Ensembl chr10:15,273,348...15,303,112
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|
G |
Mapk8ip3 |
mitogen-activated protein kinase 8 interacting protein 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,918,417...13,958,335
Ensembl chr10:13,918,400...13,958,273
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G |
Mcrip2 |
MAPK regulated co-repressor interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,883,813...14,888,784
Ensembl chr10:14,883,813...14,894,021
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|
G |
Mefv |
MEFV innate immunity regulator, pyrin |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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G |
Meiob |
meiosis specific with OB-fold |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,833,170...13,865,684
Ensembl chr10:13,833,750...13,865,046
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G |
Metrn |
meteorin, glial cell differentiation regulator |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,816,684...14,818,702
Ensembl chr10:14,816,572...14,818,701
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G |
Mettl26 |
methyltransferase like 26 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,894,574...14,908,067
Ensembl chr10:14,894,581...14,905,851
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G |
Mgrn1 |
mahogunin ring finger 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,638,881...10,688,332
Ensembl chr10:10,638,880...10,688,315
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G |
Mlst8 |
MTOR associated protein, LST8 homolog |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,498,377...13,504,128
Ensembl chr10:13,498,388...13,504,128
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G |
Mmp25 |
matrix metallopeptidase 25 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,661,297...12,676,119
Ensembl chr10:12,661,208...12,675,871
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G |
Mrpl28 |
mitochondrial ribosomal protein L28 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:15,148,670...15,151,581
Ensembl chr10:15,148,681...15,151,581
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G |
Mrps34 |
mitochondrial ribosomal protein S34 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,916,024...13,917,155
Ensembl chr10:13,916,026...13,918,406
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G |
Msln |
mesothelin |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,771,946...14,781,382
Ensembl chr10:14,771,961...14,777,643
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G |
Msrb1 |
methionine sulfoxide reductase B1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,764,883...13,770,609
Ensembl chr10:13,764,883...13,770,609
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G |
Naa60 |
N(alpha)-acetyltransferase 60, NatF catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,622,554...11,653,078
Ensembl chr10:11,587,916...11,642,755
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G |
Ndufb10 |
NADH:ubiquinone oxidoreductase subunit B10 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,749,273...13,751,434
Ensembl chr10:13,749,275...13,751,442
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G |
Nherf2 |
NHERF family PDZ scaffold protein 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,662,461...13,672,975
Ensembl chr10:13,662,461...13,673,049
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G |
Nhlrc4 |
NHL repeat containing 4 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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|
|
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G |
Nlrc3 |
NLR family, CARD domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,551,378...11,585,027
Ensembl chr10:11,551,356...11,584,398
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G |
Nme3 |
NME/NM23 nucleoside diphosphate kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,917,309...13,918,415
Ensembl chr10:13,917,403...13,918,359
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G |
Nme4 |
NME/NM23 nucleoside diphosphate kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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|
NCBI chr10:15,114,624...15,118,479
Ensembl chr10:15,002,926...15,118,479
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G |
Nmral1 |
NmrA like redox sensor 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,841,693...10,850,199
Ensembl chr10:10,841,799...10,850,192
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G |
Noxo1 |
NADPH oxidase organizer 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,721,473...13,726,061
Ensembl chr10:13,721,473...13,726,061
|
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G |
Npw |
neuropeptide W |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,680,275...13,681,618
Ensembl chr10:13,680,321...13,681,586
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|
G |
Nthl1 |
nth-like DNA glycosylase 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,655,791...13,661,958
Ensembl chr10:13,655,785...13,661,957
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G |
Ntn3 |
netrin 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,236,905...13,240,001
Ensembl chr10:13,236,905...13,240,001
|
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G |
Nubp2 |
NUBP iron-sulfur cluster assembly factor 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,903,224...13,906,928
Ensembl chr10:13,903,224...13,906,969
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G |
Nudt16l1 |
nudix hydrolase 16 like 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,636,174...10,638,090
Ensembl chr10:10,636,174...10,688,370
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|
G |
Or1f34 |
olfactory receptor family 1 subfamily F member 34 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,333,860...12,334,801
Ensembl chr10:12,333,860...12,334,801
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|
G |
Or2c1 |
olfactory receptor family 2 subfamily C member 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,682,890...11,683,828
Ensembl chr10:11,681,001...11,692,105
|
|
G |
Pam16 |
presequence translocase associated motor 16 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,942,534...10,950,654
Ensembl chr10:10,943,001...10,950,649
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|
G |
Paqr4 |
progestin and adipoQ receptor family member 4 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,758,970...12,762,649
Ensembl chr10:12,758,972...12,762,584
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|
G |
Pdia2 |
protein disulfide isomerase family A, member 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:15,215,824...15,218,937
Ensembl chr10:15,215,824...15,220,931
|
|
G |
Pdpk1 |
3-phosphoinositide dependent protein kinase-1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,105,435...13,182,664
Ensembl chr10:13,105,498...13,174,623
|
|
G |
Pgap6 |
post-GPI attachment to proteins 6 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:15,138,918...15,151,581
Ensembl chr10:15,138,959...15,148,431
|
|
G |
Pgp |
phosphoglycolate phosphatase |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,495,232...13,497,858
Ensembl chr10:13,494,291...13,497,858
|
|
G |
Pigq |
phosphatidylinositol glycan anchor biosynthesis, class Q |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,942,571...14,958,584
Ensembl chr10:14,942,577...14,958,584
|
|
G |
Pkd1 |
polycystin 1, transient receptor potential channel interacting |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
|
|
G |
Pkmyt1 |
protein kinase, membrane associated tyrosine/threonine 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,748,221...12,758,995
Ensembl chr10:12,748,237...12,758,995
|
|
G |
Prr35 |
proline rich 35 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,961,957...14,966,818
Ensembl chr10:14,962,162...14,964,152
|
|
G |
Prss21 |
serine protease 21 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,899,820...12,905,612
Ensembl chr10:12,900,535...12,905,618
|
|
G |
Prss22 |
serine protease 22 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,029,153...13,033,863
Ensembl chr10:13,029,153...13,033,863
|
|
G |
Prss27 |
serine protease 27 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,069,959...13,077,322
Ensembl chr10:13,069,959...13,077,322
|
|
G |
Prss33 |
serine protease 33 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,858,941...12,861,281
Ensembl chr10:12,858,941...12,861,281
|
|
G |
Prss41 |
serine protease 41 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,865,872...12,873,552
Ensembl chr10:12,865,872...12,873,552
|
|
G |
Ptx4 |
pentraxin 4 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 PMID:29688594 More...
|
|
NCBI chr10:14,140,028...14,146,163
Ensembl chr10:14,140,304...14,144,846
|
|
G |
Rab11fip3 |
RAB11 family interacting protein 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:15,002,650...15,086,382
Ensembl chr10:15,002,926...15,118,479
|
|
G |
Rab26 |
RAB26, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,553,395...13,558,063
Ensembl chr10:13,553,395...13,558,030
|
|
G |
Rab40c |
Rab40c, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,900,926...14,936,165
Ensembl chr10:14,900,929...14,936,557
|
|
G |
RGD1561796 |
RGD1561796 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,618,867...11,632,151
Ensembl chr10:11,618,348...11,629,910
|
|
G |
Rgs11 |
regulator of G-protein signaling 11 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:15,222,803...15,231,060
Ensembl chr10:15,222,803...15,231,060
|
|
G |
Rhbdl1 |
rhomboid like 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,854,514...14,858,848
Ensembl chr10:14,854,514...14,857,430
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|
G |
Rhot2 |
ras homolog family member T2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,858,954...14,864,751
Ensembl chr10:14,858,956...14,864,751
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|
G |
Rnf151 |
ring finger protein 151 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,742,682...13,747,192
Ensembl chr10:13,742,682...13,745,000
|
|
G |
Rnps1 |
RNA binding protein with serine rich domain 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,445,516...13,455,858
Ensembl chr10:13,445,653...13,455,858
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|
G |
Rogdi |
rogdi atypical leucine zipper |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,567,834...10,572,453
Ensembl chr10:10,567,834...10,572,452
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|
G |
Rpl3l |
ribosomal protein L3-like |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,753,914...13,764,458
Ensembl chr10:13,753,886...13,764,457
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|
G |
Rps2 |
ribosomal protein S2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,747,316...13,749,165
Ensembl chr10:13,747,301...13,749,163
|
|
G |
Rpusd1 |
RNA pseudouridine synthase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,751,310...14,755,213
Ensembl chr10:14,751,384...14,755,207
|
|
G |
Septin12 |
septin 12 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,580,900...10,590,582
Ensembl chr10:10,581,008...10,590,581
|
|
G |
Slx4 |
SLX4 structure-specific endonuclease subunit |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,526,563...11,549,291
Ensembl chr10:11,528,424...11,549,295
|
|
G |
Smim22 |
small integral membrane protein 22 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,572,146...10,574,339
|
|
G |
Sox8 |
SRY-box transcription factor 8 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,584,829...14,589,818
Ensembl chr10:14,584,829...14,589,818
|
|
G |
Spsb3 |
splA/ryanodine receptor domain and SOCS box containing 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,907,175...13,912,841
Ensembl chr10:13,907,253...13,912,841
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|
G |
Srl |
sarcalumenin |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,033,976...11,078,103
Ensembl chr10:11,034,035...11,078,101
|
|
G |
Srrm2 |
serine/arginine repetitive matrix 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,815,471...12,848,750
Ensembl chr10:12,815,471...12,848,751
|
|
G |
Sstr5 |
somatostatin receptor 5 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,506,868...14,512,946
Ensembl chr10:14,506,868...14,512,946
|
|
G |
Stub1 |
STIP1 homology and U-box containing protein 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,850,765...14,853,046
Ensembl chr10:14,850,765...14,853,046
|
|
G |
Syngr3 |
synaptogyrin 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,710,553...13,715,312
Ensembl chr10:13,704,998...13,715,669
|
|
G |
Tbc1d24 |
TBC1 domain family, member 24 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
|
|
G |
Tbl3 |
transducin (beta)-like 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,726,127...13,731,340
Ensembl chr10:13,726,129...13,731,372
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|
G |
Tedc2 |
tubulin epsilon and delta complex 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,246,032...13,251,196
Ensembl chr10:13,246,037...13,251,124
|
|
G |
Telo2 |
telomere maintenance 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 PMID:29688594 More...
|
|
NCBI chr10:14,120,491...14,135,729
Ensembl chr10:14,120,818...14,135,698
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|
G |
Tfap4 |
transcription factor AP-4 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,001,338...11,019,386
Ensembl chr10:11,002,911...11,019,386
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|
G |
Thoc6 |
THO complex subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,700,051...12,705,411
Ensembl chr10:12,700,051...12,706,925
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|
G |
Tmem204 |
transmembrane protein 204 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:25741868 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,076,518...14,104,849
Ensembl chr10:14,076,519...14,101,920
|
|
G |
Tnfrsf12a |
TNF receptor superfamily member 12A |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,707,077...12,709,071
Ensembl chr10:12,689,890...12,709,045
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|
G |
Tpsab1 |
tryptase alpha/beta 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,360,396...14,362,811
Ensembl chr10:14,360,396...14,362,811
|
|
G |
Tpsb2 |
tryptase beta 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,381,779...14,383,571
Ensembl chr10:14,382,013...14,383,569
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|
G |
Tpsg1 |
tryptase gamma 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,386,352...14,390,258
Ensembl chr10:14,386,352...14,390,258
|
|
G |
Traf7 |
TNF receptor associated factor 7 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,533,570...13,552,290
Ensembl chr10:13,533,570...13,552,203
|
|
G |
Trap1 |
TNF receptor-associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,464,882...11,498,931
Ensembl chr10:11,464,821...11,498,981
|
|
G |
Tsc2 |
TSC complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
|
|
G |
Tsr3 |
TSR3 ribosome maturation factor |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,257,150...14,259,712
Ensembl chr10:14,257,171...14,259,561
|
|
G |
Ubald1 |
UBA-like domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,695,754...10,700,519
Ensembl chr10:10,695,717...10,700,518
|
|
G |
Ube2i |
ubiquitin-conjugating enzyme E2I |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,277,749...14,294,681
Ensembl chr10:69,701,618...69,702,443 Ensembl chr10:69,701,618...69,702,443
|
|
G |
Unkl |
unk like zinc finger |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,206,125...14,252,226
Ensembl chr10:14,206,189...14,252,225
|
|
G |
Uqcc4 |
ubiquinol-cytochrome c reductase complex assembly factor 4 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,202,217...14,203,519
Ensembl chr10:14,202,243...14,204,029
|
|
G |
Vasn |
vasorin |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,917,750...10,928,259
Ensembl chr10:10,917,605...10,928,357
|
|
G |
Wdr19 |
WD repeat domain 19 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:25741868 PMID:33002628 PMID:33532864 |
|
NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
|
|
G |
Wdr24 |
WD repeat domain 24 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,844,089...14,848,871
Ensembl chr10:14,843,728...14,848,864
|
|
G |
Wdr90 |
WD repeat domain 90 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,864,672...14,881,285
Ensembl chr10:14,864,670...14,881,292
|
|
G |
Wfikkn1 |
WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,896,442...14,898,770
Ensembl chr10:14,896,378...14,899,863
|
|
G |
Zfp13 |
zinc finger protein 13 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,615,470...12,623,615
Ensembl chr10:12,615,190...12,623,615
|
|
G |
Zfp174 |
zinc finger protein 174 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:11,666,580...11,676,328
Ensembl chr10:11,669,913...11,676,312
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G |
Zfp213 |
zinc finger protein 213 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,592,368...12,599,296
Ensembl chr10:12,592,368...12,599,281
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G |
Zfp263 |
zinc finger protein 263 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:11,764,424...11,774,330
Ensembl chr10:11,764,427...11,771,235
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G |
Zfp597 |
zinc finger protein 597 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:11,653,169...11,658,843
Ensembl chr10:11,653,127...11,660,675
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G |
Zfp598 |
zinc finger protein 598 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,694,224...13,706,235
Ensembl chr10:13,694,286...13,706,233
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G |
Zg16b |
zymogen granule protein 16B |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,970,888...12,984,170
Ensembl chr10:12,979,020...12,983,572
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G |
Zscan10 |
zinc finger and SCAN domain containing 10 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,636,302...12,646,275
Ensembl chr10:12,636,302...12,646,275
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