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G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
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ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
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NCBI chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564
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G |
Ahsg |
alpha-2-HS-glycoprotein |
|
ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
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NCBI chr11:91,625,975...91,632,583
Ensembl chr11:78,117,918...78,145,999
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G |
Colec11 |
collectin sub-family member 11 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21258343 |
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NCBI chr 6:50,952,357...50,984,845
Ensembl chr 6:45,223,980...45,271,145
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G |
Crygs |
crystallin, gamma S |
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ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
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NCBI chr11:78,207,170...78,212,273
Ensembl chr11:78,207,170...78,212,273
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G |
Dnajb11 |
DnaJ heat shock protein family (Hsp40) member B11 |
|
ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
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NCBI chr11:91,656,334...91,672,800
Ensembl chr11:78,150,429...78,180,407
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G |
Eif4a2 |
eukaryotic translation initiation factor 4A2 |
|
ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
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NCBI chr11:91,268,730...91,276,738
Ensembl chr11:77,764,124...77,770,781
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G |
Fetub |
fetuin B |
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ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
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NCBI chr11:78,082,158...78,093,022
Ensembl chr11:78,082,156...78,095,135
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G |
Hrg |
histidine-rich glycoprotein |
|
ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
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NCBI chr11:91,559,087...91,573,982
Ensembl chr11:78,054,498...78,069,389
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G |
Kng1 |
kininogen 1 |
|
ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
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NCBI chr11:91,317,354...91,340,148
Ensembl chr11:77,812,752...77,835,555
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G |
Masp1 |
MBL associated serine protease 1 |
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ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 | ClinVar Annotator: match by term: Craniosynostosis with lid anomalies | ClinVar Annotator: match by term: MASP1-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:17937425 PMID:18266249 PMID:21035106 PMID:21258343 PMID:22966085 PMID:25741868 PMID:28492532 PMID:28534045 PMID:28794230 PMID:29407414 PMID:30601195 PMID:33144682 More...
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NCBI chr11:90,839,081...90,909,922
Ensembl chr11:77,334,859...77,402,974
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G |
Rfc4 |
replication factor C subunit 4 |
|
ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
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NCBI chr11:91,254,273...91,268,727
Ensembl chr11:77,749,638...77,764,122
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G |
Rpl39l1 |
ribosomal protein L39 like 1 |
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ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
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NCBI chr10:5,455,712...5,459,828
Ensembl chr10:5,454,559...5,462,029
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G |
Rtp1 |
receptor (chemosensory) transporter protein 1 |
|
ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
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NCBI chr11:77,422,982...77,425,498
Ensembl chr11:77,422,982...77,425,498
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G |
Snora81 |
small nucleolar RNA, H/ACA box 81 |
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ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
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NCBI chr11:77,767,579...77,767,756
Ensembl chr10:27,777,322...27,777,469
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G |
St6gal1 |
ST6 beta-galactoside alpha-2,6-sialyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
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NCBI chr11:91,031,481...91,158,111
Ensembl chr11:77,526,837...77,653,310
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G |
Tbccd1 |
TBCC domain containing 1 |
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ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
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NCBI chr11:78,168,386...78,205,314
Ensembl chr11:78,168,388...78,205,523
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
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ISO |
DNA:missense mutation: :p.P252R (human) |
RGD |
PMID:7874169 PMID:25251565 |
RGD:11567243, RGD:11567271 |
NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350
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G |
Fgfr2 |
fibroblast growth factor receptor 2 |
treatment severity |
ISO ISS |
OMIM:101200 ClinVar Annotator: match by term: Acrocephalosyndactyly type I | ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly | ClinVar Annotator: match by term: Syndactylic oxycephaly ClinVar Annotator: match by term: Acrocephalosyndactyly type I | ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly | ClinVar Annotator: match by term: Craniofacial-skeletal-dermatologic dysplasia | ClinVar Annotator: match by term: Syndactylic oxycephaly CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.P253R (human) DNA:mutations:cds: DNA:missense mutations:cds:p.S252W, p.P253R (human) DNA:missense mutation:cds:p.A172F (human) |
MouseDO ClinVar CTD OMIM RGD |
PMID:1641873 PMID:7607643 PMID:7655462 PMID:7668257 PMID:7719344 PMID:7719345 PMID:7773284 PMID:7795583 PMID:7874170 PMID:7987400 PMID:7989400 PMID:8650126 PMID:8651276 PMID:8696350 PMID:8755573 PMID:8946174 PMID:8957519 PMID:9002682 PMID:9150725 PMID:9462761 PMID:9475591 PMID:9502772 PMID:9521581 PMID:9536098 PMID:9677057 PMID:9700203 PMID:9719378 PMID:9973282 PMID:10394936 PMID:10618369 PMID:10633130 PMID:10851026 PMID:10951518 PMID:11121055 PMID:11173845 PMID:11390973 PMID:11781872 PMID:11870239 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12357470 PMID:12400058 PMID:12884424 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15286168 PMID:15316116 PMID:15389579 PMID:15523615 PMID:15975938 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16470531 PMID:16531735 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17264867 PMID:17525745 PMID:17576681 PMID:17693524 PMID:17694057 PMID:18541976 PMID:18552176 PMID:18618990 PMID:18726952 PMID:19186770 PMID:20133659 PMID:20301628 PMID:20489451 PMID:20503384 PMID:20856019 PMID:21367659 PMID:21397175 PMID:22238366 PMID:22558232 PMID:22664175 PMID:23002168 PMID:23430493 PMID:23431754 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23786770 PMID:23787031 PMID:24016645 PMID:24036790 PMID:24127277 PMID:24486773 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25157968 PMID:25271085 PMID:25425289 PMID:25706251 PMID:25741868 PMID:25867380 PMID:25937001 PMID:26325558 PMID:26380986 PMID:26429889 PMID:26467025 PMID:26619011 PMID:27079505 PMID:27323706 PMID:27683237 PMID:28166811 PMID:28492532 PMID:28611549 PMID:29848297 PMID:30919572 PMID:31145570 PMID:32879300 PMID:36474027 PMID:270283566 PMID:17694057 PMID:10735635 PMID:7668257 PMID:9677057 PMID:23532954 More...
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RGD:12801474, RGD:12801488, RGD:8547743, RGD:12801413, RGD:12801475 |
NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:184,745,420...184,850,626
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly |
ClinVar |
PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 PMID:9279764 PMID:9300656 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9843059 PMID:9950359 PMID:10094188 PMID:10861678 PMID:11424131 PMID:11746040 PMID:14613973 PMID:15241680 PMID:15915095 PMID:16501574 PMID:17552943 PMID:18000976 PMID:19215249 PMID:20301588 PMID:20301628 PMID:22016144 PMID:22622662 PMID:24728327 PMID:24864036 PMID:25271085 PMID:25614871 PMID:25741868 PMID:26740388 PMID:28492532 PMID:32238909 More...
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NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341
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G |
Twist1 |
twist family bHLH transcription factor 1 |
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ISO |
SCS,OMIM:101400;DNA:point mutation:exon:Y103X,Q119P ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:1240778 PMID:8968762 PMID:8988166 PMID:8988167 PMID:9259286 PMID:9585583 PMID:9792856 PMID:10094188 PMID:10649491 PMID:10749989 PMID:11248247 PMID:11474656 PMID:11748846 PMID:11754069 PMID:11977182 PMID:11992718 PMID:12116251 PMID:12791045 PMID:14513358 PMID:15923834 PMID:16251895 PMID:16838304 PMID:17693524 PMID:18391498 PMID:19373776 PMID:19483581 PMID:19755431 PMID:19952666 PMID:20184424 PMID:20643727 PMID:21520333 PMID:21876555 PMID:22382802 PMID:22544111 PMID:22982246 PMID:23354436 PMID:24127277 PMID:25271085 PMID:25741868 PMID:26114524 PMID:27884935 PMID:28369379 PMID:28492532 PMID:29037998 PMID:29304373 PMID:30074960 PMID:30450715 PMID:30651579 PMID:31754721 PMID:31837199 PMID:32909287 PMID:33369125 PMID:33547006 PMID:33937142 PMID:39033378 PMID:8988166 More...
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RGD:1624353 |
NCBI chr 6:56,402,309...56,404,303
Ensembl chr 6:50,674,678...50,677,653
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G |
Polr1a |
RNA polymerase I subunit A |
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ISO |
ClinVar Annotator: match by term: Acrofacial dysostosis Cincinnati type | ClinVar Annotator: match by term: POLR1A-related condition |
OMIM ClinVar |
PMID:25741868 PMID:25913037 PMID:28051070 PMID:28492532 PMID:34341987 PMID:37075751 More...
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NCBI chr 4:105,508,305...105,572,272
Ensembl chr 4:103,950,051...104,014,020
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G |
Zswim6 |
zinc finger, SWIM-type containing 6 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acromelic frontonasal dysostosis |
OMIM CTD ClinVar |
PMID:25105228 PMID:25741868 PMID:26706854 PMID:28492532 |
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NCBI chr 2:40,944,617...41,112,340
Ensembl chr 2:39,212,949...39,378,924
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G |
Cyp51 |
cytochrome P450, family 51 |
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ISO |
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RGD |
PMID:21705796 |
RGD:41412188 |
NCBI chr 4:30,991,693...31,010,147
Ensembl chr 4:30,036,865...30,055,410 Ensembl chr 6:30,036,865...30,055,410
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G |
Fgfr2 |
fibroblast growth factor receptor 2 |
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ISO |
DNA:missense mutations:cds:multiple (human) ClinVar Annotator: match by term: Osteodysgenesis, multisynostotic with fractures CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8434615 PMID:8651276 PMID:8696350 PMID:8946174 PMID:8957519 PMID:8958319 PMID:9002682 PMID:9462761 PMID:9605588 PMID:9677057 PMID:9700203 PMID:9714439 PMID:9719378 PMID:10076886 PMID:10076887 PMID:10406670 PMID:10633130 PMID:11121055 PMID:11390973 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15389579 PMID:15975938 PMID:15996217 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16531735 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17525745 PMID:20301628 PMID:20489451 PMID:20856019 PMID:21397175 PMID:22664175 PMID:23348274 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23787031 PMID:24016645 PMID:24127277 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25706251 PMID:25741868 PMID:25867380 PMID:25937001 PMID:26380986 PMID:26467025 PMID:27079505 PMID:27323706 PMID:28492532 PMID:29848297 PMID:31145570 PMID:32879300 PMID:36474027 PMID:10633130 More...
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RGD:12801485 |
NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:184,745,420...184,850,626
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G |
Por |
cytochrome p450 oxidoreductase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: POR Deficiency |
CTD ClinVar |
PMID:9360545 PMID:12116245 PMID:14758361 PMID:15220035 PMID:15793702 PMID:16906539 PMID:18551037 PMID:18559916 PMID:19837910 PMID:20188793 PMID:20940534 PMID:21741353 PMID:22162478 PMID:22252407 PMID:23878291 PMID:25741868 PMID:27068427 PMID:27496950 PMID:28492532 PMID:31598952 PMID:34009138 PMID:36474027 More...
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NCBI chr12:26,587,674...26,655,612
Ensembl chr12:20,951,058...20,999,245
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G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Osteodysgenesis, multisynostotic with fractures |
ClinVar |
PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8434615 PMID:8651276 PMID:8696350 PMID:8946174 PMID:8957519 PMID:8958319 PMID:9002682 PMID:9462761 PMID:9605588 PMID:9677057 PMID:9700203 PMID:9714439 PMID:9719378 PMID:10076886 PMID:10076887 PMID:10406670 PMID:10633130 PMID:10851026 PMID:11121055 PMID:11390973 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15389579 PMID:15975938 PMID:15996217 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16531735 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17525745 PMID:18552176 PMID:20301628 PMID:20489451 PMID:20856019 PMID:21367659 PMID:21397175 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23348274 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23786770 PMID:23787031 PMID:24016645 PMID:24127277 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25157968 PMID:25706251 PMID:25741868 PMID:25867380 PMID:25937001 PMID:26380986 PMID:26467025 PMID:26619011 PMID:27079505 PMID:27323706 PMID:28492532 PMID:29848297 PMID:31145570 PMID:32879300 PMID:36474027 More...
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NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:184,745,420...184,850,626
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G |
Por |
cytochrome p450 oxidoreductase |
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ISO |
ClinVar Annotator: match by term: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | ClinVar Annotator: match by term: POR Deficiency |
OMIM ClinVar |
PMID:9360545 PMID:9536098 PMID:12116245 PMID:14513299 PMID:14758361 PMID:15220035 PMID:15264278 PMID:15483095 PMID:15793702 PMID:16199547 PMID:16470797 PMID:17576681 PMID:18230729 PMID:18551037 PMID:18559916 PMID:19837910 PMID:20124576 PMID:20188793 PMID:20410220 PMID:20732302 PMID:20940534 PMID:21070833 PMID:21741353 PMID:22162478 PMID:22252407 PMID:22547083 PMID:23878291 PMID:24847272 PMID:25741868 PMID:26670660 PMID:27068427 PMID:28492532 PMID:28841001 PMID:31598952 PMID:31837199 PMID:31888681 PMID:32242900 PMID:33666875 PMID:33864926 PMID:34009138 PMID:36474027 More...
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NCBI chr12:26,587,674...26,655,612
Ensembl chr12:20,951,058...20,999,245
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G |
Fgfr2 |
fibroblast growth factor receptor 2 |
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ISO |
ClinVar Annotator: match by term: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis |
OMIM ClinVar |
PMID:7607643 PMID:7668257 PMID:7719344 PMID:7719345 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8434615 PMID:8528214 PMID:8644708 PMID:8650126 PMID:8651276 PMID:8696350 PMID:8755573 PMID:8946174 PMID:8957519 PMID:8958319 PMID:9002682 PMID:9385368 PMID:9462761 PMID:9586546 PMID:9605588 PMID:9677057 PMID:9700203 PMID:9714439 PMID:9719378 PMID:10076886 PMID:10076887 PMID:10406670 PMID:10541159 PMID:10633130 PMID:11121055 PMID:11390973 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12884424 PMID:12884434 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15316116 PMID:15389579 PMID:15975938 PMID:15996217 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16531735 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17525745 PMID:20133659 PMID:20301628 PMID:20489451 PMID:20856019 PMID:21397175 PMID:22558232 PMID:22664175 PMID:23348274 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23787031 PMID:24016645 PMID:24127277 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25271085 PMID:25706251 PMID:25741868 PMID:25759925 PMID:25867380 PMID:25937001 PMID:26362256 PMID:26380986 PMID:26467025 PMID:27079505 PMID:27323706 PMID:28492532 PMID:29848297 PMID:31145570 PMID:32879300 PMID:36474027 More...
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NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:184,745,420...184,850,626
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G |
Ppp3ca |
protein phosphatase 3 catalytic subunit alpha |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | ClinVar Annotator: match by term: PPP3CA-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29432562 PMID:30904718 PMID:33963760 |
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NCBI chr 2:227,839,058...228,113,560
Ensembl chr 2:225,165,766...225,438,974
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G |
Gja1 |
gap junction protein, alpha 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive |
OMIM CTD ClinVar |
PMID:11146471 PMID:23951358 PMID:25741868 PMID:28492532 |
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NCBI chr20:36,302,490...36,315,010
Ensembl chr20:35,755,991...35,768,582
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G |
Fbln1 |
fibulin 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects |
ClinVar |
PMID:24084572 |
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NCBI chr 7:118,190,347...118,269,965
Ensembl chr 7:116,310,582...116,390,075
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G |
Arhgap39 |
Rho GTPase activating protein 39 |
|
ISO |
ClinVar Annotator: match by term: Baller-Gerold syndrome |
ClinVar |
PMID:12734318 PMID:12952869 PMID:28492532 |
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NCBI chr 7:108,446,280...108,538,875
Ensembl chr 7:108,446,282...108,538,831
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G |
C7h8orf82 |
similar to human chromosome 8 open reading frame 82 |
|
ISO |
ClinVar Annotator: match by term: Baller-Gerold syndrome |
ClinVar |
PMID:12734318 PMID:12952869 PMID:28492532 |
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NCBI chr 7:108,443,772...108,446,116
Ensembl chr 7:108,443,782...108,446,121
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G |
Gpt |
glutamic--pyruvic transaminase |
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ISO |
ClinVar Annotator: match by term: Baller-Gerold syndrome |
ClinVar |
PMID:12734318 PMID:28492532 |
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NCBI chr 7:110,295,599...110,300,134
Ensembl chr 7:108,416,642...108,419,494
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G |
Lrrc14 |
leucine rich repeat containing 14 |
|
ISO |
ClinVar Annotator: match by term: Baller-Gerold syndrome |
ClinVar |
PMID:12734318 PMID:12952869 PMID:28492532 |
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NCBI chr 7:110,311,384...110,317,757
Ensembl chr 7:108,430,792...108,437,111
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G |
Lrrc24 |
leucine rich repeat containing 24 |
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ISO |
ClinVar Annotator: match by term: Baller-Gerold syndrome |
ClinVar |
PMID:12734318 PMID:12952869 PMID:28492532 |
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NCBI chr 7:110,317,935...110,325,201
Ensembl chr 7:108,437,296...108,444,438
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G |
Mfsd3 |
major facilitator superfamily domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Baller-Gerold syndrome |
ClinVar |
PMID:12734318 PMID:28492532 |
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NCBI chr 7:110,300,254...110,304,108
Ensembl chr 7:108,421,350...108,423,461
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G |
Recql4 |
RecQ like helicase 4 |
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ISO |
ClinVar Annotator: match by term: Baller-Gerold syndrome | ClinVar Annotator: match by term: Craniosynostosis radial aplasia syndrome | ClinVar Annotator: match by term: Craniosynostosis with radial defects CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:9878247 PMID:10319867 PMID:10678659 PMID:12734318 PMID:12838562 PMID:12952869 PMID:15221963 PMID:15897384 PMID:15964893 PMID:16199547 PMID:16630167 PMID:17250521 PMID:17250975 PMID:17372760 PMID:17576681 PMID:18504617 PMID:18616953 PMID:18716613 PMID:19291770 PMID:20113479 PMID:20503338 PMID:21143835 PMID:21418107 PMID:22730300 PMID:22885111 PMID:23238538 PMID:23899764 PMID:24033266 PMID:24518840 PMID:24635570 PMID:24728327 PMID:25120469 PMID:25326635 PMID:25640679 PMID:25741868 PMID:25966250 PMID:26491355 PMID:26556299 PMID:27247962 PMID:27352193 PMID:27425854 PMID:27498913 PMID:28039508 PMID:28076423 PMID:28202063 PMID:28358413 PMID:28486640 PMID:28492532 PMID:28653661 PMID:28724667 PMID:28767289 PMID:28825054 PMID:28873162 PMID:29168297 PMID:29367366 PMID:29462647 PMID:29478780 PMID:29506128 PMID:29625052 PMID:29641532 PMID:29642415 PMID:30007837 PMID:30086788 PMID:30262796 PMID:30306255 PMID:30651579 PMID:30680959 PMID:30724488 PMID:30995915 PMID:31406625 PMID:31604778 PMID:31829210 PMID:31874108 PMID:32139749 PMID:32191290 PMID:32482547 PMID:32659497 PMID:32659967 PMID:32729250 PMID:33046774 PMID:33077847 PMID:33144682 PMID:33294214 PMID:33606809 PMID:33674555 PMID:33999380 PMID:34006472 PMID:34155702 PMID:34308366 PMID:34869606 PMID:35171259 More...
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NCBI chr 7:110,304,092...110,311,426
Ensembl chr 7:108,423,455...108,430,619
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G |
Zfp251 |
zinc finger protein 251 |
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ISO |
ClinVar Annotator: match by term: Baller-Gerold syndrome |
ClinVar |
PMID:12734318 PMID:12952869 PMID:28492532 |
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NCBI chr 7:110,449,194...110,479,218
Ensembl chr 7:108,568,597...108,598,623
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G |
Ripk4 |
receptor-interacting serine-threonine kinase 4 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bartsocas-Papas syndrome 1 | ClinVar Annotator: match by term: MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE |
OMIM CTD ClinVar |
PMID:10925380 PMID:15264293 PMID:22197488 PMID:22197489 PMID:23074676 PMID:23610050 PMID:25326635 PMID:25741868 PMID:26752647 PMID:28492532 PMID:28940926 More...
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NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799
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G |
Chuk |
component of inhibitor of nuclear factor kappa B kinase complex |
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ISO |
ClinVar Annotator: match by term: Bartsocas-Papas syndrome 2 |
OMIM ClinVar |
PMID:25691407 |
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NCBI chr 1:252,908,748...252,944,273
Ensembl chr 1:242,959,760...242,995,065
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G |
Med25 |
mediator complex subunit 25 |
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ISO |
ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome |
OMIM ClinVar |
PMID:25488817 PMID:25527630 PMID:25741868 PMID:25792360 PMID:28170084 PMID:28492532 PMID:30039206 PMID:32324310 PMID:32371413 PMID:32376792 PMID:32816121 PMID:37091313 More...
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NCBI chr 1:95,359,961...95,375,827
Ensembl chr 1:95,360,284...95,375,877
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G |
Fgfr2 |
fibroblast growth factor receptor 2 |
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ISO ISS |
ClinVar Annotator: match by term: Beare-Stevenson cutis gyrata syndrome | ClinVar Annotator: match by term: Cutis Gyrata syndrome of Beare and Stevenson OMIM:123790 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8651276 PMID:8696350 PMID:8957519 PMID:9002682 PMID:9462761 PMID:9677057 PMID:9700203 PMID:9719378 PMID:11121055 PMID:11390973 PMID:11781872 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15389579 PMID:15975938 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16531735 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17264867 PMID:17449949 PMID:17525745 PMID:18247426 PMID:19610084 PMID:20301628 PMID:20489451 PMID:20856019 PMID:21397175 PMID:22664175 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23787031 PMID:24016645 PMID:24127277 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25425289 PMID:25706251 PMID:25741868 PMID:25867380 PMID:25937001 PMID:26325558 PMID:26380986 PMID:26429889 PMID:26467025 PMID:27079505 PMID:27323706 PMID:28492532 PMID:29848297 PMID:31145570 PMID:32879300 PMID:36474027 More...
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NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:184,745,420...184,850,626
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G |
Asxl1 |
ASXL transcriptional regulator 1 |
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ISO |
ClinVar Annotator: match by term: Bohring-Opitz syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:16412590 PMID:18414213 PMID:20880116 PMID:21576631 PMID:21706002 PMID:21881046 PMID:22031865 PMID:22058207 PMID:22419483 PMID:22489043 PMID:23018865 PMID:23619563 PMID:23690417 PMID:24033266 PMID:24255920 PMID:24442206 PMID:24458439 PMID:24496303 PMID:24695057 PMID:24728327 PMID:25106414 PMID:25131622 PMID:25326635 PMID:25596267 PMID:25652455 PMID:25741868 PMID:25921057 PMID:26364555 PMID:26467025 PMID:26633542 PMID:27069254 PMID:27276561 PMID:27895058 PMID:28492532 PMID:29681105 PMID:30013160 PMID:30147881 PMID:30158690 PMID:31692235 PMID:31969346 PMID:32581362 PMID:33529703 More...
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NCBI chr 3:162,273,828...162,341,742
Ensembl chr 3:141,813,433...141,881,538
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G |
Klhl7 |
kelch-like family member 7 |
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ISO |
ClinVar Annotator: match by term: Bohring-Opitz syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 4:11,898,766...11,947,796
Ensembl chr 4:11,006,375...11,055,541
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G |
Rps23 |
ribosomal protein S23 |
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ISO |
ClinVar Annotator: match by term: Brachycephaly, trichomegaly, and developmental delay |
OMIM ClinVar |
PMID:25741868 PMID:28257692 |
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NCBI chr 2:22,079,339...22,080,909
Ensembl chr 2:22,079,302...22,080,918
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G |
Hoxd13 |
homeo box D13 |
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ISO |
ClinVar Annotator: match by term: Brachydactyly-syndactyly syndrome | ClinVar Annotator: match by term: Brachydactyly-syndactyly-oligodactyly syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:17236141 PMID:22233338 PMID:23995701 PMID:24239177 PMID:25741868 |
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NCBI chr 3:79,978,077...79,981,393
Ensembl chr 3:59,570,646...59,573,963
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G |
Cd96 |
CD96 molecule |
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ISO |
ClinVar Annotator: match by term: C syndrome | ClinVar Annotator: match by term: CD96-related condition |
OMIM ClinVar |
PMID:16199547 PMID:17847009 PMID:25741868 PMID:28492532 PMID:34906502 PMID:37673932 More...
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NCBI chr11:68,164,926...68,239,266
Ensembl chr11:54,702,290...54,776,621
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G |
Pitx1 |
paired-like homeodomain 1 |
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ISO |
ClinVar Annotator: match by term: Liebenberg syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:8,794,051...8,805,477
Ensembl chr17:8,794,134...8,800,291
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G |
Bag2 |
BAG cochaperone 2 |
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ISO |
ClinVar Annotator: match by term: Acrocephalopolysyndactyly Type II | ClinVar Annotator: match by term: Carpenter syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 9:43,465,993...43,476,637
Ensembl chr 9:35,970,033...35,980,721
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G |
Megf8 |
multiple EGF-like-domains 8 |
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ISO ISS |
CTD Direct Evidence: marker/mechanism OMIM:201000 | OMIM:614976 ClinVar Annotator: match by term: Carpenter syndrome |
CTD MouseDO ClinVar |
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NCBI chr 1:90,030,057...90,079,423
Ensembl chr 1:80,902,574...80,951,613
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G |
Rab23 |
RAB23, member RAS oncogene family |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ACPS 2 | ClinVar Annotator: match by term: Acrocephalopolysyndactyly Type II | ClinVar Annotator: match by term: Carpenter syndrome |
CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17503333 PMID:17576681 PMID:20358613 PMID:21412941 PMID:23599695 PMID:24458945 PMID:25168863 PMID:25741868 PMID:27872624 PMID:28213671 PMID:28492532 More...
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NCBI chr 9:43,440,047...43,463,327
Ensembl chr 9:35,944,085...35,966,927
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G |
Bag2 |
BAG cochaperone 2 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 9:43,465,993...43,476,637
Ensembl chr 9:35,970,033...35,980,721
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G |
Rab23 |
RAB23, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 1 | ClinVar Annotator: match by term: RAB23-related condition |
OMIM ClinVar |
PMID:9536098 PMID:17503333 PMID:17576681 PMID:20358613 PMID:21412941 PMID:23599695 PMID:24458945 PMID:25741868 PMID:27872624 PMID:28213671 PMID:28492532 More...
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NCBI chr 9:43,440,047...43,463,327
Ensembl chr 9:35,944,085...35,966,927
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G |
Actmap |
actin maturation protease |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:91,618,012...91,627,490
Ensembl chr 1:82,490,363...82,499,841
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G |
Akt2 |
AKT serine/threonine kinase 2 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:92,004,705...92,061,420
Ensembl chr 1:82,883,547...82,933,817
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G |
Arhgef1 |
Rho guanine nucleotide exchange factor 1 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:89,626,884...89,648,823
Ensembl chr 1:80,499,131...80,520,953
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G |
Atp1a3 |
ATPase Na+/K+ transporting subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:89,700,645...89,729,782
Ensembl chr 1:80,572,796...80,601,918
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G |
Axl |
Axl receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:90,392,864...90,424,123
Ensembl chr 1:81,265,088...81,296,265
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G |
B3gnt8 |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,135,602...81,138,501
Ensembl chr 1:81,135,499...81,142,263
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G |
B9d2 |
B9 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356
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G |
Bckdha |
branched chain keto acid dehydrogenase E1 subunit alpha |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862
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G |
Blvrb |
biliverdin reductase B |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:91,866,258...91,883,921
Ensembl chr 1:82,738,695...82,770,375
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G |
C1h19orf47 |
similar to human chromosome 19 open reading frame 47 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,844,309...82,871,187
Ensembl chr 1:82,844,286...82,868,320
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G |
Ccdc97 |
coiled-coil domain containing 97 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,219,225...81,227,017
Ensembl chr 1:81,219,230...81,226,986
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G |
Cd79a |
CD79a molecule |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:89,621,460...89,625,813
Ensembl chr 1:80,493,581...80,497,935
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G |
Ceacam15 |
CEA cell adhesion molecule 15 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:77,368,376...77,373,343
Ensembl chr 1:77,368,966...77,372,663
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G |
Ceacam4 |
CEA cell adhesion molecule 4 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,376,667...80,382,943
Ensembl chr 1:80,376,648...80,382,915
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G |
Ceacam6 |
CEA cell adhesion molecule 6 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:89,544,415...89,562,552
Ensembl chr 1:80,416,531...80,434,668
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G |
Cic |
capicua transcriptional repressor |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:89,980,660...90,008,357
Ensembl chr 1:80,853,920...80,880,532
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G |
Cnfn |
cornifelin |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,949,699...80,953,747
Ensembl chr 1:80,951,600...80,953,747
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G |
Coq8b |
coenzyme Q8B |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:91,653,241...91,676,822
Ensembl chr 1:82,526,568...82,549,180
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G |
Cyp2a1 |
cytochrome P450, family 2, subfamily a, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:91,359,278...91,372,554
Ensembl chr 1:82,231,611...82,244,887
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G |
Cyp2a3 |
cytochrome P450, family 2, subfamily a, polypeptide 3 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,171,914...82,179,980
Ensembl chr 1:82,169,949...82,179,979
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G |
Cyp2b3 |
cytochrome P450, family 2, subfamily b, polypeptide 3 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:90,780,468...90,859,852
Ensembl chr 1:81,652,787...81,732,143
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G |
Cyp2f4 |
cytochrome P450, family 2, subfamily f, polypeptide 4 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:91,543,768...91,557,553
Ensembl chr 1:82,416,130...82,429,896
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G |
Cyp2s1 |
cytochrome P450, family 2, subfamily s, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:90,437,741...90,453,073
Ensembl chr 1:81,310,451...81,325,303
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G |
Dedd2 |
death effector domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:89,916,906...89,934,663
Ensembl chr 1:80,792,000...80,807,714
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G |
Dll3 |
delta like canonical Notch ligand 3 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750
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G |
Dmac2 |
distal membrane arm assembly component 2 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,128,760...81,134,810
Ensembl chr 1:81,128,857...81,134,812
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G |
Dmrtc2 |
DMRT-like family C2 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:89,594,120...89,601,761
Ensembl chr 1:80,466,132...80,473,531
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G |
Dyrk1b |
dual specificity tyrosine phosphorylation regulated kinase 1B |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,479,168...83,497,011
Ensembl chr 1:83,479,147...83,487,169
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G |
Egln2 |
egl-9 family hypoxia-inducible factor 2 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:91,579,205...91,586,985
Ensembl chr 1:82,451,555...82,459,751
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G |
Eid2 |
EP300 interacting inhibitor of differentiation 2 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:92,665,837...92,667,162
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G |
Eid2b |
EP300 interacting inhibitor of differentiation 2B |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:92,673,119...92,674,899
Ensembl chr 1:83,545,563...83,546,734
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G |
Erf |
Ets2 repressor factor |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:89,957,760...89,966,213
Ensembl chr 1:80,829,935...80,838,388
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G |
Erich4 |
glutamate-rich 4 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,123,556...81,125,296
Ensembl chr 1:81,123,556...81,125,296
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G |
Exosc5 |
exosome component 5 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:90,295,495...90,305,047
Ensembl chr 1:81,166,023...81,177,265
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G |
Fbl |
fibrillarin |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:92,597,407...92,606,507
Ensembl chr 1:83,469,832...83,478,932
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G |
Fcgbp |
Fc gamma binding protein |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,374,979...83,413,082
Ensembl chr 1:83,372,127...83,413,083
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G |
Grik5 |
glutamate ionotropic receptor kainate type subunit 5 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:89,733,736...89,795,769
Ensembl chr 1:80,605,892...80,667,125
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G |
Gsk3a |
glycogen synthase kinase 3 alpha |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:89,943,669...89,953,514
Ensembl chr 1:80,815,850...80,825,802
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G |
Hipk4 |
homeodomain interacting protein kinase 4 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:91,938,308...91,948,680
Ensembl chr 1:82,810,708...82,821,077
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G |
Hnrnpul1 |
heterogeneous nuclear ribonucleoprotein U-like 1 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,228,404...81,264,121
Ensembl chr 1:81,228,404...81,262,592
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G |
Itpkc |
inositol-trisphosphate 3-kinase C |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:91,628,606...91,650,182
Ensembl chr 1:82,500,957...82,522,779
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G |
Lgals5 |
galectin 5 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:63,853,949...63,857,198
Ensembl chr10:63,853,935...63,857,153
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G |
Lipe |
lipase E, hormone sensitive type |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:90,093,433...90,112,117
Ensembl chr 1:80,965,627...80,984,310
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G |
Ltbp4 |
latent transforming growth factor beta binding protein 4 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:91,727,769...91,759,822
Ensembl chr 1:82,600,136...82,632,178
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G |
Lypd4 |
Ly6/Plaur domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,460,487...80,466,105
Ensembl chr 1:80,460,487...80,466,011
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G |
Map3k10 |
mitogen activated protein kinase kinase kinase 10 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,955,784...82,974,084
Ensembl chr 1:82,955,207...82,974,084
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G |
Megf8 |
multiple EGF-like-domains 8 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 | ClinVar Annotator: match by term: MEGF8-related condition |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23063620 PMID:25326635 PMID:25741868 PMID:28492532 PMID:28914635 PMID:29168297 More...
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NCBI chr 1:90,030,057...90,079,423
Ensembl chr 1:80,902,574...80,951,613
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G |
Mia |
MIA SH3 domain containing |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,473,677...82,476,378
Ensembl chr 1:82,473,678...82,475,370
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G |
Numbl |
NUMB-like, endocytic adaptor protein |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:91,677,437...91,701,415
Ensembl chr 1:82,550,054...82,573,776
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G |
Pafah1b3 |
platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:90,009,085...90,011,611
Ensembl chr 1:80,881,309...80,883,893
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G |
Pld3 |
phospholipase D family, member 3 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:91,949,465...91,971,834
Ensembl chr 1:82,821,875...82,844,072
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G |
Plekhg2 |
pleckstrin homology and RhoGEF domain containing G2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,651,902...83,665,063
Ensembl chr 1:83,647,748...83,665,063
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G |
Pou2f2 |
POU class 2 homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:89,810,153...89,897,560
Ensembl chr 1:80,685,741...80,724,261
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G |
Prr19 |
proline rich 19 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,884,529...80,890,712
Ensembl chr 1:80,887,151...80,890,168
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G |
Prx |
periaxin |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:91,912,669...91,934,754
Ensembl chr 1:82,786,815...82,807,407
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G |
Psmc4 |
proteasome 26S subunit, ATPase 4 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,476,690...92,485,268
Ensembl chr 1:83,348,592...83,357,494
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G |
Rab4b |
RAB4B, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,461,396...82,472,784
Ensembl chr 1:82,461,396...82,472,763
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G |
Rabac1 |
Rab acceptor 1 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:89,691,884...89,695,017
Ensembl chr 1:80,564,033...80,567,163
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G |
Rps16 |
ribosomal protein S16 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:92,770,658...92,773,603
Ensembl chr 1:83,643,130...83,646,206 Ensembl chr19:83,643,130...83,646,206
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G |
Rps19 |
ribosomal protein S19 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:89,608,408...89,614,390
Ensembl chr 1:80,480,951...80,486,508 Ensembl chr 7:80,480,951...80,486,508
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G |
Selenov |
selenoprotein V |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,551,473...83,558,756
Ensembl chr 1:83,551,473...83,558,756
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G |
Sertad1 |
SERTA domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:91,903,297...91,906,565
Ensembl chr 1:82,775,252...82,779,091
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G |
Sertad3 |
SERTA domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,763,535...82,767,271
Ensembl chr 1:82,763,149...82,769,001
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G |
Shkbp1 |
Sh3kbp1 binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,636,797...82,650,330
Ensembl chr 1:82,636,797...82,650,375
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G |
Snrpa |
small nuclear ribonucleoprotein polypeptide A |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:91,609,419...91,618,119
Ensembl chr 1:82,481,770...82,490,538
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G |
Sptbn4 |
spectrin, beta, non-erythrocytic 4 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:91,778,379...91,865,970
Ensembl chr 1:82,650,751...82,737,228
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G |
Supt5h |
SPT5 homolog, DSIF elongation factor subunit |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,586,713...83,616,971
Ensembl chr 1:83,586,718...83,616,892
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G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847
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G |
Timm50 |
translocase of inner mitochondrial membrane 50 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,574,872...83,582,748
Ensembl chr 1:83,556,757...83,582,793
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G |
Tmem145 |
transmembrane protein 145 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,891,888...80,901,615
Ensembl chr 1:80,891,927...80,901,611
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G |
Tmem91 |
transmembrane protein 91 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,179,483...81,187,005
Ensembl chr 1:81,179,156...81,185,164
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G |
Ttc9b |
tetratricopeptide repeat domain 9B |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,953,434...82,955,659
Ensembl chr 1:82,953,434...82,955,616
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G |
Zfp11 |
zinc finger protein 11 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr12:32,664,312...32,676,940
Ensembl chr12:27,028,115...27,041,365
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G |
Zfp526 |
zinc finger protein 526 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,807,791...80,817,852
Ensembl chr 1:80,806,972...80,818,180
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G |
Zfp574 |
zinc finger protein 574 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:89,798,412...89,805,490
Ensembl chr 1:80,664,259...80,679,427
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G |
Znf780b |
zinc finger protein 780B |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,136,761...92,159,076
Ensembl chr 1:83,009,189...83,082,107
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G |
Lrp4 |
LDL receptor related protein 4 |
|
ISO |
ClinVar Annotator: match by term: Cenani-Lenz syndactyly syndrome | ClinVar Annotator: match by term: SYNDACTYLY, TYPE VII | ClinVar Annotator: match by term: Syndactyly type 7 ClinVar Annotator: match by term: Cenani-Lenz syndactyly syndrome | ClinVar Annotator: match by term: Syndactyly type 7 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:7891385 PMID:9182770 PMID:9536098 PMID:10756427 PMID:11260233 PMID:12868467 PMID:14577675 PMID:16199547 PMID:17576681 PMID:18978656 PMID:20381006 PMID:21471202 PMID:23636941 PMID:24234652 PMID:24924585 PMID:25119311 PMID:25741868 PMID:26751728 PMID:28492532 PMID:28559208 PMID:34857885 More...
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NCBI chr 3:97,885,373...97,939,366
Ensembl chr 3:77,429,798...77,483,593
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G |
Nectin1 |
nectin cell adhesion molecule 1 |
|
ISO |
ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome | ClinVar Annotator: match by term: NECTIN1-related condition | ClinVar Annotator: match by term: Zlotogora-Ogur syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:3035184 PMID:10932188 PMID:11559849 PMID:11756979 PMID:12893758 PMID:16195396 PMID:16674562 PMID:17089422 PMID:18223281 PMID:19132250 PMID:19715471 PMID:23560673 PMID:24560896 PMID:25741868 PMID:25913853 PMID:28492532 PMID:32554531 More...
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NCBI chr 8:52,998,662...53,061,745
Ensembl chr 8:44,101,776...44,189,787
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G |
P4hb |
prolyl 4-hydroxylase subunit beta |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features | ClinVar Annotator: match by term: Cole-Carpenter syndrome |
CTD ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:106,335,300...106,346,911
Ensembl chr10:105,836,982...105,848,500
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G |
Sec24d |
SEC24 homolog D, COPII coat complex component |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 2:214,103,138...214,211,155
Ensembl chr 2:211,418,623...211,526,587
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G |
P4hb |
prolyl 4-hydroxylase subunit beta |
|
ISO |
ClinVar Annotator: match by term: Cole-Carpenter syndrome 1 | ClinVar Annotator: match by term: P4HB-related condition |
OMIM ClinVar |
PMID:25683117 PMID:25741868 PMID:28492532 PMID:29263160 PMID:30063094 |
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NCBI chr10:106,335,300...106,346,911
Ensembl chr10:105,836,982...105,848,500
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G |
Sec24d |
SEC24 homolog D, COPII coat complex component |
|
ISO |
ClinVar Annotator: match by term: Cole-Carpenter syndrome 2 | ClinVar Annotator: match by term: SEC24D-related condition |
OMIM ClinVar |
PMID:25683121 PMID:25741868 PMID:26467156 PMID:27942778 PMID:28492532 PMID:30462379 More...
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NCBI chr 2:214,103,138...214,211,155
Ensembl chr 2:211,418,623...211,526,587
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G |
Wdpcp |
WD repeat containing planar cell polarity effector |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital heart defects, hamartomas of tongue, and polysyndactyly | ClinVar Annotator: match by term: Heart defect - tongue hamartoma - polysyndactyly syndrome | ClinVar Annotator: match by term: WDPCP-related condition |
OMIM CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20671153 PMID:25326635 PMID:25427950 PMID:25741868 PMID:27158779 PMID:28289185 PMID:28492532 PMID:29588463 PMID:33046855 More...
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NCBI chr14:99,847,463...100,178,392
Ensembl chr14:95,646,038...95,977,113
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G |
Cilk1 |
ciliogenesis associated kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia |
ClinVar |
PMID:25741868 |
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NCBI chr 8:87,868,294...87,922,995
Ensembl chr 8:78,984,258...79,042,691
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G |
Ift122 |
intraflagellar transport 122 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cranioectodermal dysplasia |
CTD ClinVar |
PMID:23826986 PMID:24027799 PMID:25741868 PMID:28492532 |
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NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458
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G |
Ift43 |
intraflagellar transport 43 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cranioectodermal dysplasia |
CTD ClinVar |
PMID:25741868 |
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NCBI chr 6:111,460,689...111,537,224
Ensembl chr 6:105,729,792...105,806,257
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G |
Matn3 |
matrilin 3 |
|
ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia | ClinVar Annotator: match by term: Sensenbrenner syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 6:37,467,729...37,487,776
Ensembl chr 6:31,748,474...31,768,101
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G |
Tgfb3 |
transforming growth factor, beta 3 |
|
ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia |
ClinVar |
PMID:25741868 |
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NCBI chr 6:111,435,170...111,457,646
Ensembl chr 6:105,704,236...105,726,564
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G |
Wdr19 |
WD repeat domain 19 |
|
ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:22019273 PMID:23559409 PMID:23683095 PMID:25726036 PMID:25741868 PMID:26260382 PMID:26275793 PMID:27241786 PMID:27596865 PMID:28492532 PMID:28621010 PMID:29068549 PMID:32165824 More...
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NCBI chr14:43,396,130...43,460,012
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: Cranioectodermal dysplasia | ClinVar Annotator: match by term: Sensenbrenner syndrome |
CTD ClinVar |
PMID:22486404 PMID:24033266 PMID:25741868 PMID:25914204 PMID:28332779 PMID:28492532 PMID:29068549 More...
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NCBI chr 6:37,490,557...37,550,391
Ensembl chr 6:31,771,360...31,831,029
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G |
Ift122 |
intraflagellar transport 122 |
|
ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 | ClinVar Annotator: match by term: LEVIN SYNDROME I |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17022080 PMID:17576681 PMID:19648123 PMID:19760620 PMID:20493458 PMID:23826986 PMID:24027799 PMID:25640679 PMID:25741868 PMID:26792575 PMID:28370949 PMID:28492532 PMID:29037998 PMID:33532864 PMID:33717254 More...
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NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458
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G |
Mbd4 |
methyl-CpG binding domain 4 DNA glycosylase |
|
ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:150,565,646...150,577,433
Ensembl chr 4:148,894,280...148,904,982
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G |
Rho |
rhodopsin |
|
ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 4:150,653,205...150,658,367
Ensembl chr 4:148,980,611...148,985,773
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G |
Matn3 |
matrilin 3 |
|
ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:37,467,729...37,487,776
Ensembl chr 6:31,748,474...31,768,101
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G |
Spag17 |
sperm associated antigen 17 |
|
ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 |
ClinVar |
|
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NCBI chr 2:189,952,649...190,199,623
Ensembl chr 2:187,264,009...187,510,501
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G |
Wdr35 |
WD repeat domain 35 |
|
ISO |
DNA:missense mutation:cds:p.L520P (human) ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 | ClinVar Annotator: match by term: WDR35-related disorder |
ClinVar OMIM RGD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20817137 PMID:21473986 PMID:22486404 PMID:22987818 PMID:24027799 PMID:24033266 PMID:24123776 PMID:25326635 PMID:25741868 PMID:25908617 PMID:25914204 PMID:26691894 PMID:27158779 PMID:28332779 PMID:28400947 PMID:28492532 PMID:28870638 PMID:29068549 PMID:31785789 PMID:32804427 PMID:33369054 PMID:33606107 PMID:34421506 PMID:37596520 PMID:22987818 More...
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RGD:11553909 |
NCBI chr 6:37,490,557...37,550,391
Ensembl chr 6:31,771,360...31,831,029
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G |
Ift43 |
intraflagellar transport 43 |
|
ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia 3 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:21378380 PMID:24027799 PMID:25741868 PMID:26489029 PMID:28400947 PMID:28492532 PMID:29896747 More...
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NCBI chr 6:111,460,689...111,537,224
Ensembl chr 6:105,729,792...105,806,257
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G |
Wdr19 |
WD repeat domain 19 |
|
ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia 4 DNA:missense mutation:cds:p.L750P (mouse) |
OMIM ClinVar RGD |
PMID:9536098 PMID:17576681 PMID:22019273 PMID:23559409 PMID:23683095 PMID:24027799 PMID:24027800 PMID:25726036 PMID:25741868 PMID:26260382 PMID:26275793 PMID:27241786 PMID:27596865 PMID:28492532 PMID:28621010 PMID:29068549 PMID:31725169 PMID:31964843 PMID:32165824 PMID:32483926 PMID:33517396 PMID:34295353 PMID:36227438 PMID:36909829 PMID:22228095 More...
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RGD:11552606 |
NCBI chr14:43,396,130...43,460,012
Ensembl chr14:43,042,478...43,106,288
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G |
Foxi3 |
forkhead box I3 |
|
ISO |
ClinVar Annotator: match by term: Craniofacial microsomia 2 | ClinVar Annotator: match by term: FOXI3-related condition |
ClinVar OMIM |
PMID:25741868 PMID:28492532 PMID:36260083 PMID:37041148 |
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NCBI chr 4:104,491,834...104,496,008
Ensembl chr 4:102,933,409...102,937,655
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G |
Acadsb |
acyl-CoA dehydrogenase, short/branched chain |
|
ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
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NCBI chr 1:195,619,088...195,660,564
Ensembl chr 1:186,188,987...186,230,379
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G |
Aloxe3 |
arachidonate epidermal lipoxygenase 3 |
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ISO |
ClinVar Annotator: match by term: Brachycephaly |
ClinVar |
PMID:25741868 |
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NCBI chr10:54,329,224...54,353,167
Ensembl chr10:53,831,264...53,854,328
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G |
Alx4 |
ALX homeobox 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 3:100,067,052...100,103,624
Ensembl chr 3:79,611,719...79,648,260
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G |
Ate1 |
arginyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
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NCBI chr 1:194,391,843...194,514,284
Ensembl chr 1:184,963,562...185,080,908
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G |
Atp1a3 |
ATPase Na+/K+ transporting subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: Syndromic craniosynostosis |
ClinVar |
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NCBI chr 1:89,700,645...89,729,782
Ensembl chr 1:80,572,796...80,601,918
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G |
Axin2 |
axin 2 |
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ISS |
OMIM:123100 | OMIM:182212 | OMIM:600593 | OMIM:600775 | OMIM:604757 | OMIM:615314 | OMIM:615529 |
MouseDO |
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NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
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G |
Bbs9 |
Bardet-Biedl syndrome 9 |
susceptibility |
ISO |
DNA:SNPs:introns:rs10262453,rs17724206,rs1884302(human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23160099 PMID:23160099 |
RGD:9684995 |
NCBI chr 8:29,288,846...29,713,889
Ensembl chr 8:21,013,944...21,437,930
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G |
Bmp2 |
bone morphogenetic protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23160099 |
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NCBI chr 3:141,264,648...141,275,416
Ensembl chr 3:120,812,882...120,821,397
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G |
Btbd16 |
BTB domain containing 16 |
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ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
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NCBI chr 1:185,334,971...185,389,518
Ensembl chr 1:185,335,725...185,389,517
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G |
C1h10orf120 |
similar to human chromosome 10 open reading frame 120 |
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ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
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NCBI chr 1:185,910,420...185,913,478
Ensembl chr 1:185,910,420...185,913,448
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G |
C1h10orf88 |
similar to human chromosome 10 open reading frame 88 |
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ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
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NCBI chr 1:195,555,517...195,580,177
Ensembl chr 1:186,132,848...186,149,425
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G |
Cic |
capicua transcriptional repressor |
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ISO |
ClinVar Annotator: match by term: Syndromic craniosynostosis |
ClinVar |
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NCBI chr 1:89,980,660...90,008,357
Ensembl chr 1:80,853,920...80,880,532
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G |
Clasp1 |
cytoplasmic linker associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis |
ClinVar |
PMID:25741868 PMID:26522830 PMID:28492532 PMID:28669401 PMID:32628740 |
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NCBI chr13:29,493,554...29,715,151
Ensembl chr13:29,493,596...29,715,146
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G |
Cuzd1 |
CUB and zona pellucida-like domains 1 |
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ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
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NCBI chr 1:186,089,422...186,130,536
Ensembl chr 1:186,089,423...186,102,546
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G |
Dedd2 |
death effector domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Syndromic craniosynostosis |
ClinVar |
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NCBI chr 1:89,916,906...89,934,663
Ensembl chr 1:80,792,000...80,807,714
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G |
Dmbt1 |
deleted in malignant brain tumors 1 |
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ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
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NCBI chr 1:195,047,702...195,126,704
Ensembl chr 1:185,617,294...185,696,478
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G |
Efnb1 |
ephrin B1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15166289 |
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NCBI chr X:68,297,529...68,310,335
Ensembl chr X:64,257,351...64,270,157
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G |
Erf |
Ets2 repressor factor |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Lambdoid synostosis | ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis |
CTD ClinVar |
PMID:9536098 PMID:17576681 PMID:23354439 PMID:25741868 PMID:25741905 PMID:26097063 PMID:27738187 PMID:28492532 PMID:28808027 PMID:29215649 PMID:29758562 PMID:30758909 PMID:31754721 PMID:31785789 PMID:32370745 PMID:35852485 More...
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NCBI chr 1:89,957,760...89,966,213
Ensembl chr 1:80,829,935...80,838,388
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G |
Ezh2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26424790 |
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NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362
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G |
Fam24a |
family with sequence similarity 24, member A |
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ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
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NCBI chr 1:186,119,918...186,122,932
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G |
Fam24b |
family with sequence similarity 24 member B |
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ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
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NCBI chr 1:186,112,544...186,115,957
Ensembl chr 1:186,112,551...186,115,899
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G |
Fbn1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: Craniosynostosis |
ClinVar |
PMID:25741868 PMID:31837199 |
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NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:112,554,925...112,750,889
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G |
Fbn2 |
fibrillin 2 |
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ISO |
ClinVar Annotator: match by term: Craniosynostosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr18:53,696,197...53,901,992
Ensembl chr18:51,499,737...51,703,976
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
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ISO |
DNA:missense mutation:exon:p.P250R (mouse) ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis, nonspecific CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:15605412 PMID:16764984 PMID:17154279 PMID:18160472 PMID:18985070 PMID:20696889 PMID:23329143 PMID:23657145 PMID:25064402 PMID:25383892 PMID:25425165 PMID:25741868 PMID:25759380 PMID:26467025 PMID:26931467 PMID:28492532 PMID:10942429 More...
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RGD:11567263 |
NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350
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G |
Fgfr2 |
fibroblast growth factor receptor 2 |
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ISO |
DNA:substitutions:multiple (human) ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: FGFR2-related craniosynostosis | ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar Annotator: match by term: Brachycephaly | ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2 related craniosynostosis ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: FGFR2 related craniosynostosis ClinVar Annotator: match by term: Brachycephaly | ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2-related craniosynostosis human cells in a rat model CTD Direct Evidence: marker/mechanism DNA:missense mutations:cds:p.Y105C, p.G384R (human) |
ClinVar CTD RGD |
PMID:1519658 PMID:1641873 PMID:1697263 PMID:2172978 PMID:4078868 PMID:7558045 PMID:7573032 PMID:7581378 PMID:7607643 PMID:7655462 PMID:7668257 PMID:7719329 PMID:7719333 PMID:7719344 PMID:7719345 PMID:7773284 PMID:7795583 PMID:7874170 PMID:7987400 PMID:7989400 PMID:8434615 PMID:8522336 PMID:8528214 PMID:8644708 PMID:8650126 PMID:8651276 PMID:8696350 PMID:8755573 PMID:8946174 PMID:8957519 PMID:8958319 PMID:9002682 PMID:9048930 PMID:9150725 PMID:9152842 PMID:9385368 PMID:9462761 PMID:9475591 PMID:9521581 PMID:9531645 PMID:9536098 PMID:9539778 PMID:9585583 PMID:9586546 PMID:9605588 PMID:9677057 PMID:9700203 PMID:9714439 PMID:9719378 PMID:9973282 PMID:10067911 PMID:10076886 PMID:10076887 PMID:10394936 PMID:10406670 PMID:10541159 PMID:10574673 PMID:10618369 PMID:10633130 PMID:10712195 PMID:10735635 PMID:10851026 PMID:10874645 PMID:10951518 PMID:11121055 PMID:11173845 PMID:11325814 PMID:11343323 PMID:11390973 PMID:11556600 PMID:11711827 PMID:11781872 PMID:11807866 PMID:11870239 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12186468 PMID:12357470 PMID:12400058 PMID:12477974 PMID:12575031 PMID:12575301 PMID:12884424 PMID:12884434 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15282208 PMID:15286168 PMID:15316116 PMID:15389579 PMID:15523615 PMID:15793702 PMID:15863034 PMID:15883293 PMID:15975938 PMID:15996217 PMID:16061565 PMID:16158432 PMID:16199547 PMID:16418739 PMID:16440883 PMID:16465081 PMID:16470531 PMID:16501574 PMID:16531735 PMID:16740155 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17264867 PMID:17525745 PMID:17576681 PMID:17621648 PMID:17693524 PMID:17803937 PMID:17873121 PMID:18247426 PMID:18391498 PMID:18414213 PMID:18541976 PMID:18552176 PMID:18618990 PMID:18726952 PMID:19066959 PMID:19610084 PMID:20133659 PMID:20301628 PMID:20489451 PMID:20503384 PMID:20643727 PMID:20856019 PMID:21189955 PMID:21367659 PMID:21397175 PMID:21524234 PMID:21928350 PMID:22117175 PMID:22238366 PMID:22387015 PMID:22558232 PMID:22664175 PMID:22665975 PMID:23002168 PMID:23348274 PMID:23430493 PMID:23431754 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23754559 PMID:23786770 PMID:23787031 PMID:23908597 PMID:23995961 PMID:24016645 PMID:24036790 PMID:24127277 PMID:24486773 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25129254 PMID:25157968 PMID:25174698 PMID:25209230 PMID:25245177 PMID:25271085 PMID:25343114 PMID:25361936 PMID:25425289 PMID:25640679 PMID:25706251 PMID:25741868 PMID:25759925 PMID:25759927 PMID:25867380 PMID:25937001 PMID:26289989 PMID:26325558 PMID:26362256 PMID:26380986 PMID:26429889 PMID:26467025 PMID:26557159 PMID:26619011 PMID:27028366 PMID:27079505 PMID:27228464 PMID:27323706 PMID:27430617 PMID:27481450 PMID:27527345 PMID:27683237 PMID:27803855 PMID:28166811 PMID:28492532 PMID:28611549 PMID:28901406 PMID:28990276 PMID:29037998 PMID:29095814 PMID:29109840 PMID:29848297 PMID:30919572 PMID:31145570 PMID:31502745 PMID:31754721 PMID:32595695 PMID:32879300 PMID:33937142 PMID:35802133 PMID:36474027 PMID:36633841 PMID:270283566 PMID:19624690 PMID:19627528 PMID:14499350 PMID:8946174 More...
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RGD:6480630, RGD:8547554, RGD:12801469, RGD:12801484 |
NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:184,745,420...184,850,626
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
DNA:missense mutation:cds:p.P250R(human) ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis, nonspecific |
ClinVar RGD |
PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 PMID:9279764 PMID:9300656 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9843059 PMID:9950359 PMID:10094188 PMID:10861678 PMID:11424131 PMID:11746040 PMID:14613973 PMID:15241680 PMID:15915095 PMID:16501574 PMID:17552943 PMID:18000976 PMID:19215249 PMID:20301588 PMID:20301628 PMID:22016144 PMID:22622662 PMID:24728327 PMID:24864036 PMID:25271085 PMID:25614871 PMID:25741868 PMID:26740388 PMID:28492532 PMID:30311386 PMID:32238909 PMID:11467490 More...
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RGD:11568028 |
NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341
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G |
Flna |
filamin A |
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ISO |
DNA:missense mutations:cds:multiple (human) |
RGD |
PMID:25873011 |
RGD:11531800 |
NCBI chr X:157,159,051...157,185,559
Ensembl chr X:152,007,758...152,031,052
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G |
Frem1 |
Fras1 related extracellular matrix 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 5:97,321,266...97,469,523
Ensembl chr 5:97,322,538...97,469,543
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G |
Grik5 |
glutamate ionotropic receptor kainate type subunit 5 |
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ISO |
ClinVar Annotator: match by term: Syndromic craniosynostosis |
ClinVar |
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NCBI chr 1:89,733,736...89,795,769
Ensembl chr 1:80,605,892...80,667,125
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G |
Gsk3a |
glycogen synthase kinase 3 alpha |
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ISO |
ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:89,943,669...89,953,514
Ensembl chr 1:80,815,850...80,825,802
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G |
Hes7 |
hes family bHLH transcription factor 7 |
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ISO |
ClinVar Annotator: match by term: Brachycephaly |
ClinVar |
PMID:25741868 |
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NCBI chr10:54,322,971...54,327,776
Ensembl chr10:53,825,574...53,828,097
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G |
Htra1 |
HtrA serine peptidase 1 |
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ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
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NCBI chr 1:194,928,069...194,977,619
Ensembl chr 1:185,497,735...185,547,379
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G |
Ift122 |
intraflagellar transport 122 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20493458 |
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NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458
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G |
Ikzf5 |
IKAROS family zinc finger 5 |
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ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
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NCBI chr 1:195,599,287...195,619,024
Ensembl chr 1:186,170,788...186,188,834
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G |
Megf8 |
multiple EGF-like-domains 8 |
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ISO |
ClinVar Annotator: match by term: Craniosynostosis |
ClinVar |
PMID:23063620 PMID:25741868 PMID:28914635 PMID:29168297 |
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NCBI chr 1:90,030,057...90,079,423
Ensembl chr 1:80,902,574...80,951,613
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G |
Msx2 |
msh homeobox 2 |
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ISO ISS |
craniosynostosis type 2, OMIM:604757, DNA:point mutation:exon:P148H OMIM:123100 | OMIM:182212 | OMIM:600593 | OMIM:600775 | OMIM:604757 | OMIM:615314 |
MouseDO RGD |
PMID:8968743 |
RGD:1600491 |
NCBI chr17:11,102,284...11,107,949
Ensembl chr17:11,097,103...11,102,879
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G |
Myh7 |
myosin heavy chain 7 |
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ISO |
ClinVar Annotator: match by term: Lambdoid synostosis |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29892087 PMID:31737537 |
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NCBI chr15:32,416,525...32,439,851
Ensembl chr15:28,446,550...28,468,217
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G |
Nell1 |
neural EGFL like 1 |
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IMP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:14672347 PMID:12235118 |
RGD:633405 |
NCBI chr 1:99,709,305...100,573,872
Ensembl chr 1:99,709,793...100,573,860
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G |
Nog |
noggin |
treatment |
ISO |
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RGD |
PMID:19627528 |
RGD:8547554 |
NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,128,712...74,130,339
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G |
Nsmce4a |
NSE4 homolog A, SMC5-SMC6 complex component |
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ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
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NCBI chr 1:185,102,075...185,109,166
Ensembl chr 1:185,094,360...185,109,166
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G |
Pafah1b3 |
platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 |
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ISO |
ClinVar Annotator: match by term: Syndromic craniosynostosis |
ClinVar |
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NCBI chr 1:90,009,085...90,011,611
Ensembl chr 1:80,881,309...80,883,893
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G |
Plekha1 |
pleckstrin homology domain containing A1 |
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ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
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NCBI chr 1:185,427,982...185,479,157
Ensembl chr 1:185,428,048...185,479,156
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G |
Pou2f2 |
POU class 2 homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Syndromic craniosynostosis |
ClinVar |
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NCBI chr 1:89,810,153...89,897,560
Ensembl chr 1:80,685,741...80,724,261
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G |
Pstk |
phosphoseryl-tRNA kinase |
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ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
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NCBI chr 1:186,157,730...186,168,145
Ensembl chr 1:186,157,707...186,168,145
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G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
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ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar Annotator: match by term: Brachycephaly |
ClinVar |
PMID:11992261 PMID:14644997 PMID:15723289 PMID:15987685 PMID:16358218 PMID:17020470 PMID:17339163 PMID:17361219 PMID:18372317 PMID:19020799 PMID:19737548 PMID:20308328 PMID:21533187 PMID:22315187 PMID:22488759 PMID:23584145 PMID:24033266 PMID:24628801 PMID:24935154 PMID:25585602 PMID:25595571 PMID:25741868 PMID:26467025 PMID:26918529 PMID:28363362 PMID:28492532 PMID:29907801 PMID:30311386 PMID:30410095 PMID:30417923 PMID:31219622 PMID:31560489 PMID:32164556 PMID:32581362 More...
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NCBI chr12:41,026,079...41,085,577
Ensembl chr12:35,383,144...35,424,925
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G |
Rabac1 |
Rab acceptor 1 |
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ISO |
ClinVar Annotator: match by term: Syndromic craniosynostosis |
ClinVar |
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NCBI chr 1:89,691,884...89,695,017
Ensembl chr 1:80,564,033...80,567,163
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G |
Smad6 |
SMAD family member 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 8:73,345,457...73,414,985
Ensembl chr 8:64,450,114...64,519,763
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G |
Tacc2 |
transforming, acidic coiled-coil containing protein 2 |
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ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
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NCBI chr 1:194,546,428...194,758,152
Ensembl chr 1:185,116,111...185,327,881
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Tcf12 |
transcription factor 12 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23354436 |
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NCBI chr 8:81,371,201...81,682,337
Ensembl chr 8:72,492,567...72,799,201
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Tgfbr1 |
transforming growth factor, beta receptor 1 |
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ISO |
ClinVar Annotator: match by term: Craniosynostosis |
ClinVar |
PMID:25741868 PMID:31837199 |
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NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:61,653,233...61,710,777
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Twist1 |
twist family bHLH transcription factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar Annotator: match by term: Brachycephaly | ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2 related craniosynostosis ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2 related craniosynostosis ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Lambdoid synostosis |
CTD ClinVar |
PMID:1240778 PMID:8968762 PMID:8988166 PMID:8988167 PMID:9259286 PMID:9585583 PMID:9792856 PMID:10094188 PMID:10649491 PMID:10749989 PMID:11248247 PMID:11474656 PMID:11748846 PMID:11754069 PMID:11977182 PMID:11992718 PMID:12116251 PMID:12221714 PMID:12791045 PMID:14513358 PMID:15923834 PMID:16251895 PMID:16838304 PMID:17343269 PMID:17693524 PMID:18391498 PMID:19373776 PMID:19483581 PMID:19755431 PMID:19952666 PMID:20184424 PMID:20643727 PMID:21520333 PMID:21876555 PMID:22382802 PMID:22544111 PMID:22982246 PMID:24127277 PMID:25271085 PMID:25741868 PMID:25741909 PMID:26114524 PMID:27884935 PMID:28369379 PMID:28492532 PMID:29037998 PMID:29304373 PMID:30074960 PMID:30450715 PMID:30651579 PMID:31754721 PMID:31837199 PMID:32909287 PMID:33369125 PMID:33547006 PMID:33937142 PMID:39033378 More...
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NCBI chr 6:56,402,309...56,404,303
Ensembl chr 6:50,674,678...50,677,653
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Wdr11 |
WD repeat domain 11 |
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ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:184,165,260...184,210,834
Ensembl chr 1:184,165,571...184,210,846
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G |
Wdr35 |
WD repeat domain 35 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20817137 |
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NCBI chr 6:37,490,557...37,550,391
Ensembl chr 6:31,771,360...31,831,029
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Zfp526 |
zinc finger protein 526 |
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ISO |
ClinVar Annotator: match by term: Syndromic craniosynostosis |
ClinVar |
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NCBI chr 1:80,807,791...80,817,852
Ensembl chr 1:80,806,972...80,818,180
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Zfp574 |
zinc finger protein 574 |
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ISO |
ClinVar Annotator: match by term: Syndromic craniosynostosis |
ClinVar |
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NCBI chr 1:89,798,412...89,805,490
Ensembl chr 1:80,664,259...80,679,427
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G |
Zic1 |
Zic family member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 8:100,785,282...100,797,716
Ensembl chr 8:91,908,576...91,912,731
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G |
Actmap |
actin maturation protease |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:91,618,012...91,627,490
Ensembl chr 1:82,490,363...82,499,841
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Akt2 |
AKT serine/threonine kinase 2 |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:92,004,705...92,061,420
Ensembl chr 1:82,883,547...82,933,817
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Arhgef1 |
Rho guanine nucleotide exchange factor 1 |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:89,626,884...89,648,823
Ensembl chr 1:80,499,131...80,520,953
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Atp1a3 |
ATPase Na+/K+ transporting subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:89,700,645...89,729,782
Ensembl chr 1:80,572,796...80,601,918
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Axl |
Axl receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:90,392,864...90,424,123
Ensembl chr 1:81,265,088...81,296,265
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G |
B3gnt8 |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,135,602...81,138,501
Ensembl chr 1:81,135,499...81,142,263
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B9d2 |
B9 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356
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Bckdha |
branched chain keto acid dehydrogenase E1 subunit alpha |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862
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Blvrb |
biliverdin reductase B |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:91,866,258...91,883,921
Ensembl chr 1:82,738,695...82,770,375
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C1h19orf47 |
similar to human chromosome 19 open reading frame 47 |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,844,309...82,871,187
Ensembl chr 1:82,844,286...82,868,320
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Ccdc97 |
coiled-coil domain containing 97 |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,219,225...81,227,017
Ensembl chr 1:81,219,230...81,226,986
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Cd79a |
CD79a molecule |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:89,621,460...89,625,813
Ensembl chr 1:80,493,581...80,497,935
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Ceacam15 |
CEA cell adhesion molecule 15 |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:77,368,376...77,373,343
Ensembl chr 1:77,368,966...77,372,663
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Ceacam4 |
CEA cell adhesion molecule 4 |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,376,667...80,382,943
Ensembl chr 1:80,376,648...80,382,915
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G |
Ceacam6 |
CEA cell adhesion molecule 6 |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:89,544,415...89,562,552
Ensembl chr 1:80,416,531...80,434,668
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Cic |
capicua transcriptional repressor |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:89,980,660...90,008,357
Ensembl chr 1:80,853,920...80,880,532
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G |
Cnfn |
cornifelin |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,949,699...80,953,747
Ensembl chr 1:80,951,600...80,953,747
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G |
Coq8b |
coenzyme Q8B |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:91,653,241...91,676,822
Ensembl chr 1:82,526,568...82,549,180
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Cyp2a1 |
cytochrome P450, family 2, subfamily a, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:91,359,278...91,372,554
Ensembl chr 1:82,231,611...82,244,887
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G |
Cyp2a3 |
cytochrome P450, family 2, subfamily a, polypeptide 3 |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,171,914...82,179,980
Ensembl chr 1:82,169,949...82,179,979
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G |
Cyp2b3 |
cytochrome P450, family 2, subfamily b, polypeptide 3 |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:90,780,468...90,859,852
Ensembl chr 1:81,652,787...81,732,143
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Cyp2f4 |
cytochrome P450, family 2, subfamily f, polypeptide 4 |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:91,543,768...91,557,553
Ensembl chr 1:82,416,130...82,429,896
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G |
Cyp2s1 |
cytochrome P450, family 2, subfamily s, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:90,437,741...90,453,073
Ensembl chr 1:81,310,451...81,325,303
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G |
Dedd2 |
death effector domain containing 2 |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:89,916,906...89,934,663
Ensembl chr 1:80,792,000...80,807,714
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G |
Dll3 |
delta like canonical Notch ligand 3 |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750
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G |
Dmac2 |
distal membrane arm assembly component 2 |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,128,760...81,134,810
Ensembl chr 1:81,128,857...81,134,812
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G |
Dmrtc2 |
DMRT-like family C2 |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:89,594,120...89,601,761
Ensembl chr 1:80,466,132...80,473,531
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G |
Dyrk1b |
dual specificity tyrosine phosphorylation regulated kinase 1B |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,479,168...83,497,011
Ensembl chr 1:83,479,147...83,487,169
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G |
Egln2 |
egl-9 family hypoxia-inducible factor 2 |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:91,579,205...91,586,985
Ensembl chr 1:82,451,555...82,459,751
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G |
Eid2 |
EP300 interacting inhibitor of differentiation 2 |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:92,665,837...92,667,162
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G |
Eid2b |
EP300 interacting inhibitor of differentiation 2B |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:92,673,119...92,674,899
Ensembl chr 1:83,545,563...83,546,734
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G |
Erf |
Ets2 repressor factor |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:9536098 PMID:17576681 PMID:23354439 PMID:25741868 PMID:26097063 PMID:27738187 PMID:28492532 PMID:28808027 PMID:29215649 PMID:29758562 PMID:30758909 PMID:31754721 PMID:31785789 PMID:32370745 PMID:35852485 More...
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NCBI chr 1:89,957,760...89,966,213
Ensembl chr 1:80,829,935...80,838,388
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G |
Erich4 |
glutamate-rich 4 |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,123,556...81,125,296
Ensembl chr 1:81,123,556...81,125,296
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G |
Exosc5 |
exosome component 5 |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:90,295,495...90,305,047
Ensembl chr 1:81,166,023...81,177,265
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G |
Fbl |
fibrillarin |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:92,597,407...92,606,507
Ensembl chr 1:83,469,832...83,478,932
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G |
Fcgbp |
Fc gamma binding protein |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,374,979...83,413,082
Ensembl chr 1:83,372,127...83,413,083
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Grik5 |
glutamate ionotropic receptor kainate type subunit 5 |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:89,733,736...89,795,769
Ensembl chr 1:80,605,892...80,667,125
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G |
Gsk3a |
glycogen synthase kinase 3 alpha |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:89,943,669...89,953,514
Ensembl chr 1:80,815,850...80,825,802
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G |
Hipk4 |
homeodomain interacting protein kinase 4 |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:91,938,308...91,948,680
Ensembl chr 1:82,810,708...82,821,077
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G |
Hnrnpul1 |
heterogeneous nuclear ribonucleoprotein U-like 1 |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,228,404...81,264,121
Ensembl chr 1:81,228,404...81,262,592
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G |
Itpkc |
inositol-trisphosphate 3-kinase C |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:91,628,606...91,650,182
Ensembl chr 1:82,500,957...82,522,779
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G |
Kat6b |
lysine acetyltransferase 6B |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
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NCBI chr15:2,688,535...2,861,443
Ensembl chr15:2,639,200...2,812,316
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G |
Lgals5 |
galectin 5 |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr10:63,853,949...63,857,198
Ensembl chr10:63,853,935...63,857,153
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G |
Lipe |
lipase E, hormone sensitive type |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:90,093,433...90,112,117
Ensembl chr 1:80,965,627...80,984,310
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G |
Ltbp4 |
latent transforming growth factor beta binding protein 4 |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:91,727,769...91,759,822
Ensembl chr 1:82,600,136...82,632,178
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G |
Lypd4 |
Ly6/Plaur domain containing 4 |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,460,487...80,466,105
Ensembl chr 1:80,460,487...80,466,011
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G |
Map3k10 |
mitogen activated protein kinase kinase kinase 10 |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,955,784...82,974,084
Ensembl chr 1:82,955,207...82,974,084
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G |
Megf8 |
multiple EGF-like-domains 8 |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:90,030,057...90,079,423
Ensembl chr 1:80,902,574...80,951,613
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G |
Mia |
MIA SH3 domain containing |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,473,677...82,476,378
Ensembl chr 1:82,473,678...82,475,370
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G |
Numbl |
NUMB-like, endocytic adaptor protein |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:91,677,437...91,701,415
Ensembl chr 1:82,550,054...82,573,776
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G |
Pafah1b3 |
platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:90,009,085...90,011,611
Ensembl chr 1:80,881,309...80,883,893
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G |
Pld3 |
phospholipase D family, member 3 |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:91,949,465...91,971,834
Ensembl chr 1:82,821,875...82,844,072
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G |
Plekhg2 |
pleckstrin homology and RhoGEF domain containing G2 |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,651,902...83,665,063
Ensembl chr 1:83,647,748...83,665,063
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G |
Pou2f2 |
POU class 2 homeobox 2 |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:89,810,153...89,897,560
Ensembl chr 1:80,685,741...80,724,261
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G |
Prr19 |
proline rich 19 |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,884,529...80,890,712
Ensembl chr 1:80,887,151...80,890,168
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G |
Prx |
periaxin |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:91,912,669...91,934,754
Ensembl chr 1:82,786,815...82,807,407
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G |
Psmc4 |
proteasome 26S subunit, ATPase 4 |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:92,476,690...92,485,268
Ensembl chr 1:83,348,592...83,357,494
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G |
Rab4b |
RAB4B, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,461,396...82,472,784
Ensembl chr 1:82,461,396...82,472,763
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G |
Rabac1 |
Rab acceptor 1 |
|
ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:89,691,884...89,695,017
Ensembl chr 1:80,564,033...80,567,163
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G |
Rps16 |
ribosomal protein S16 |
|
ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:92,770,658...92,773,603
Ensembl chr 1:83,643,130...83,646,206 Ensembl chr19:83,643,130...83,646,206
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G |
Rps19 |
ribosomal protein S19 |
|
ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:89,608,408...89,614,390
Ensembl chr 1:80,480,951...80,486,508 Ensembl chr 7:80,480,951...80,486,508
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G |
Selenov |
selenoprotein V |
|
ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,551,473...83,558,756
Ensembl chr 1:83,551,473...83,558,756
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G |
Sertad1 |
SERTA domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:91,903,297...91,906,565
Ensembl chr 1:82,775,252...82,779,091
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Sertad3 |
SERTA domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,763,535...82,767,271
Ensembl chr 1:82,763,149...82,769,001
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G |
Shkbp1 |
Sh3kbp1 binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,636,797...82,650,330
Ensembl chr 1:82,636,797...82,650,375
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G |
Snrpa |
small nuclear ribonucleoprotein polypeptide A |
|
ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:91,609,419...91,618,119
Ensembl chr 1:82,481,770...82,490,538
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G |
Sptbn4 |
spectrin, beta, non-erythrocytic 4 |
|
ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:91,778,379...91,865,970
Ensembl chr 1:82,650,751...82,737,228
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G |
Supt5h |
SPT5 homolog, DSIF elongation factor subunit |
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ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,586,713...83,616,971
Ensembl chr 1:83,586,718...83,616,892
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Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847
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Timm50 |
translocase of inner mitochondrial membrane 50 |
|
ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,574,872...83,582,748
Ensembl chr 1:83,556,757...83,582,793
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G |
Tmem145 |
transmembrane protein 145 |
|
ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,891,888...80,901,615
Ensembl chr 1:80,891,927...80,901,611
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Tmem91 |
transmembrane protein 91 |
|
ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,179,483...81,187,005
Ensembl chr 1:81,179,156...81,185,164
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G |
Ttc9b |
tetratricopeptide repeat domain 9B |
|
ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,953,434...82,955,659
Ensembl chr 1:82,953,434...82,955,616
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G |
Twist1 |
twist family bHLH transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
OMIM ClinVar |
PMID:1240778 PMID:8968762 PMID:8988166 PMID:8988167 PMID:9259286 PMID:9585583 PMID:9792856 PMID:10094188 PMID:10649491 PMID:10749989 PMID:11248247 PMID:11474656 PMID:11748846 PMID:11754069 PMID:11977182 PMID:11992718 PMID:12116251 PMID:12791045 PMID:14513358 PMID:15923834 PMID:16251895 PMID:16838304 PMID:17343269 PMID:17693524 PMID:18391498 PMID:19373776 PMID:19483581 PMID:19755431 PMID:19952666 PMID:20184424 PMID:20643727 PMID:21520333 PMID:21876555 PMID:22382802 PMID:22544111 PMID:22982246 PMID:24127277 PMID:25271085 PMID:25741868 PMID:26114524 PMID:27884935 PMID:28369379 PMID:28492532 PMID:29037998 PMID:29304373 PMID:30074960 PMID:30450715 PMID:30651579 PMID:31754721 PMID:31837199 PMID:32909287 PMID:33369125 PMID:33547006 PMID:33937142 PMID:39033378 More...
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NCBI chr 6:56,402,309...56,404,303
Ensembl chr 6:50,674,678...50,677,653
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G |
Zfp11 |
zinc finger protein 11 |
|
ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr12:32,664,312...32,676,940
Ensembl chr12:27,028,115...27,041,365
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G |
Zfp526 |
zinc finger protein 526 |
|
ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,807,791...80,817,852
Ensembl chr 1:80,806,972...80,818,180
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G |
Zfp574 |
zinc finger protein 574 |
|
ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:89,798,412...89,805,490
Ensembl chr 1:80,664,259...80,679,427
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Znf780b |
zinc finger protein 780B |
|
ISO |
ClinVar Annotator: match by term: TWIST1-related craniosynostosis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:92,136,761...92,159,076
Ensembl chr 1:83,009,189...83,082,107
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G |
Msx2 |
msh homeobox 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Craniosynostosis 2 | ClinVar Annotator: match by term: Warman-Mulliken-Hayward syndrome |
OMIM CTD ClinVar |
PMID:7597092 PMID:8106171 PMID:8357019 PMID:8968743 PMID:9256341 PMID:10742103 PMID:16319823 PMID:18786927 PMID:20301307 PMID:23918290 PMID:23949913 PMID:25741868 PMID:27013732 PMID:28492532 More...
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NCBI chr17:11,102,284...11,107,949
Ensembl chr17:11,097,103...11,102,879
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Coronal craniosynostosis |
ClinVar |
PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 PMID:9279764 PMID:9300656 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9843059 PMID:9950359 PMID:10094188 PMID:10861678 PMID:11424131 PMID:11746040 PMID:14613973 PMID:15241680 PMID:15915095 PMID:16501574 PMID:17552943 PMID:18000976 PMID:19215249 PMID:20301588 PMID:20301628 PMID:22016144 PMID:22622662 PMID:24728327 PMID:24864036 PMID:25271085 PMID:25614871 PMID:25741868 PMID:26740388 PMID:28492532 PMID:32238909 More...
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NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341
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G |
Tcf12 |
transcription factor 12 |
|
ISO |
ClinVar Annotator: match by term: Coronal craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 3 | ClinVar Annotator: match by term: TCF12-related condition |
OMIM ClinVar |
PMID:23354436 PMID:24736737 PMID:25271085 PMID:25741868 PMID:28492532 PMID:28808027 PMID:29168297 PMID:29215649 PMID:30038786 PMID:30858722 PMID:32620954 PMID:32629054 PMID:32693025 PMID:33004838 PMID:33461977 PMID:33547006 PMID:34906502 PMID:35468861 More...
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NCBI chr 8:81,371,201...81,682,337
Ensembl chr 8:72,492,567...72,799,201
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G |
Twist1 |
twist family bHLH transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Coronal craniosynostosis |
ClinVar |
|
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NCBI chr 6:56,402,309...56,404,303
Ensembl chr 6:50,674,678...50,677,653
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G |
Erf |
Ets2 repressor factor |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 4 |
OMIM ClinVar |
PMID:23354439 PMID:25741868 PMID:26097063 PMID:27738187 PMID:28492532 PMID:28808027 PMID:29215649 PMID:29758562 PMID:30758909 PMID:32370745 PMID:35852485 More...
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NCBI chr 1:89,957,760...89,966,213
Ensembl chr 1:80,829,935...80,838,388
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G |
Myh7 |
myosin heavy chain 7 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 4 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29892087 PMID:31737537 |
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NCBI chr15:32,416,525...32,439,851
Ensembl chr15:28,446,550...28,468,217
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G |
Alx4 |
ALX homeobox 4 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 5, susceptibility to |
ClinVar OMIM |
PMID:22829454 PMID:25741868 PMID:28492532 |
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NCBI chr 3:100,067,052...100,103,624
Ensembl chr 3:79,611,719...79,648,260
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G |
Zic1 |
Zic family member 1 |
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ISO |
ClinVar Annotator: match by term: Craniosynostosis 6 | ClinVar Annotator: match by term: ZIC1-related condition |
OMIM ClinVar |
PMID:25741868 PMID:26340333 PMID:28492532 |
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NCBI chr 8:100,785,282...100,797,716
Ensembl chr 8:91,908,576...91,912,731
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G |
Bmp2 |
bone morphogenetic protein 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 7 |
ClinVar |
PMID:27606499 |
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NCBI chr 3:141,264,648...141,275,416
Ensembl chr 3:120,812,882...120,821,397
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G |
Smad6 |
SMAD family member 6 |
susceptibility |
ISO |
ClinVar Annotator: match by term: CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: CRS7, DIGENIC | ClinVar Annotator: match by term: Craniosynostosis 7 |
ClinVar OMIM |
PMID:9536098 PMID:17576681 PMID:22275001 PMID:25741868 PMID:27606499 PMID:28492532 PMID:28808027 PMID:30796334 PMID:32499606 More...
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NCBI chr 8:73,345,457...73,414,985
Ensembl chr 8:64,450,114...64,519,763
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G |
Il11ra1 |
interleukin 11 receptor subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis and dental anomalies | ClinVar Annotator: match by term: IL11RA-related condition |
OMIM ClinVar |
PMID:21741611 PMID:24498618 PMID:25741868 PMID:28492532 PMID:32860008 PMID:34906502 More...
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NCBI chr 5:61,727,650...61,737,265
Ensembl chr 5:56,935,516...56,941,408
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G |
Adamtsl4 |
ADAMTS-like 4 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:20564469 PMID:25741868 PMID:28492532 PMID:28642162 PMID:31837199 |
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NCBI chr 2:183,235,634...183,247,091
Ensembl chr 2:183,235,646...183,246,848
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G |
Alg6 |
ALG6, alpha-1,3-glucosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 5:114,404,972...114,454,440
Ensembl chr 5:114,405,010...114,454,439
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G |
Axin2 |
axin 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
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G |
Clasp1 |
cytoplasmic linker associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 PMID:26522830 PMID:28492532 PMID:28669401 PMID:32628740 |
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NCBI chr13:29,493,554...29,715,151
Ensembl chr13:29,493,596...29,715,146
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G |
Cnpy2 |
canopy FGF signaling regulator 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 7:1,332,293...1,338,081
Ensembl chr 7:749,008...755,519
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G |
Ctnna1 |
catenin alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:31292255 |
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NCBI chr18:27,002,330...27,135,009
Ensembl chr18:26,728,485...26,860,910
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G |
Cyp26b1 |
cytochrome P450, family 26, subfamily b, polypeptide 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 PMID:31837199 |
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NCBI chr 4:118,599,356...118,616,176
Ensembl chr 4:117,041,808...117,058,628
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G |
Dhrs3 |
dehydrogenase/reductase 3 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 5:162,031,853...162,065,655
Ensembl chr 5:156,747,962...156,782,417
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G |
Efcab7 |
EF-hand calcium binding domain 7 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 5:119,640,841...119,691,566
Ensembl chr 5:114,525,167...114,576,129
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G |
Erf |
Ets2 repressor factor |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 PMID:31837199 |
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NCBI chr 1:89,957,760...89,966,213
Ensembl chr 1:80,829,935...80,838,388
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G |
Fbn1 |
fibrillin 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 PMID:31837199 |
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NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:112,554,925...112,750,889
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G |
Fbn2 |
fibrillin 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr18:53,696,197...53,901,992
Ensembl chr18:51,499,737...51,703,976
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:9536098 PMID:10629055 PMID:12627230 PMID:15365636 PMID:15605412 PMID:16764984 PMID:17154279 PMID:17360555 PMID:17576681 PMID:17963255 PMID:18160472 PMID:18985070 PMID:19707180 PMID:20696889 PMID:22378383 PMID:23329143 PMID:23348397 PMID:23657145 PMID:24031091 PMID:25064402 PMID:25383892 PMID:25425165 PMID:25741868 PMID:25759380 PMID:26467025 PMID:26931467 PMID:27884173 PMID:28492532 More...
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NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350
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G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:7607643 PMID:7719345 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8650126 PMID:8755573 PMID:8957519 PMID:11781872 PMID:15316116 PMID:16158432 PMID:16418739 PMID:16838304 PMID:17264867 PMID:20133659 PMID:22558232 PMID:24127277 PMID:24728327 PMID:25271085 PMID:25425289 PMID:25741868 PMID:26325558 PMID:26429889 PMID:26467025 PMID:27240702 PMID:28492532 More...
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NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:184,745,420...184,850,626
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:7493034 PMID:8723106 PMID:8841188 PMID:8880573 PMID:9042914 PMID:9107244 PMID:9279753 PMID:9279764 PMID:9300656 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10094188 PMID:10861678 PMID:11424131 PMID:11426459 PMID:11746040 PMID:14613973 PMID:15241680 PMID:15915095 PMID:16501574 PMID:17552943 PMID:17935505 PMID:18000976 PMID:18976668 PMID:19215249 PMID:20199409 PMID:20301588 PMID:20301628 PMID:21536014 PMID:22016144 PMID:22622662 PMID:23437153 PMID:24728327 PMID:24864036 PMID:25271085 PMID:25326635 PMID:25614871 PMID:25741868 PMID:26740388 PMID:28492532 PMID:31016899 PMID:32238909 More...
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NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341
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G |
Foxd3 |
forkhead box D3 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 5:119,450,532...119,452,898
Ensembl chr 5:114,335,408...114,336,817
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G |
Gli2 |
GLI family zinc finger 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:31292255 |
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NCBI chr13:32,499,678...32,716,418
Ensembl chr13:29,946,809...30,163,574
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G |
Gli3 |
GLI family zinc finger 3 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:21326280 PMID:22903559 PMID:24736735 PMID:25741868 |
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NCBI chr17:54,134,064...54,405,198
Ensembl chr17:49,438,567...49,709,712
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G |
Gpc4 |
glypican 4 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:31292255 |
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NCBI chr X:136,565,536...136,676,142
Ensembl chr X:131,644,704...131,755,284
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G |
Grin2b |
glutamate ionotropic receptor NMDA type subunit 2B |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 4:170,297,811...170,775,420
Ensembl chr 4:168,599,546...169,042,279
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G |
Hapln2 |
hyaluronan and proteoglycan link protein 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 2:173,488,909...173,496,824
Ensembl chr 2:173,491,160...173,496,588
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G |
Igf1r |
insulin-like growth factor 1 receptor |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 PMID:31837199 |
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NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:121,550,743...121,831,777
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G |
Il11ra1 |
interleukin 11 receptor subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 PMID:31837199 |
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NCBI chr 5:61,727,650...61,737,265
Ensembl chr 5:56,935,516...56,941,408
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G |
Itgb3bp |
integrin subunit beta 3 binding protein |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 5:114,460,217...114,525,538
Ensembl chr 5:114,460,221...114,525,704
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G |
Kat6a |
lysine acetyltransferase 6A |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 PMID:30245513 PMID:31292255 |
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NCBI chr16:75,787,411...75,868,584
Ensembl chr16:69,084,914...69,163,606
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Man2b1 |
mannosidase, alpha, class 2B, member 1 |
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ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr19:39,959,964...39,979,299
Ensembl chr19:23,055,097...23,074,389
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G |
Megf8 |
multiple EGF-like-domains 8 |
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ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:23063620 PMID:25741868 PMID:28914635 PMID:29168297 |
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NCBI chr 1:90,030,057...90,079,423
Ensembl chr 1:80,902,574...80,951,613
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Msx1 |
msh homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31837199 |
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NCBI chr14:77,185,802...77,189,735
Ensembl chr14:72,961,148...72,964,966
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Msx2 |
msh homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
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NCBI chr17:11,102,284...11,107,949
Ensembl chr17:11,097,103...11,102,879
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Npr2 |
natriuretic peptide receptor 2 |
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ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
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NCBI chr 5:62,678,197...62,697,360
Ensembl chr 5:57,883,171...57,901,580
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Pgm1 |
phosphoglucomutase 1 |
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ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 5:119,710,734...119,770,159
Ensembl chr 5:114,595,293...114,654,728
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Prrx1 |
paired related homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:21294718 PMID:22211708 PMID:22674740 PMID:23444262 PMID:25741868 PMID:37154149 More...
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NCBI chr13:78,136,783...78,205,379
Ensembl chr13:75,601,706...75,670,866
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Ptch1 |
patched 1 |
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ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31837199 More...
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NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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G |
Runx2 |
RUNX family transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:16,167,482...16,492,167
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Sox11 |
SRY-box transcription factor 11 |
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ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:31292255 |
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NCBI chr 6:49,736,773...49,738,794
Ensembl chr 6:44,008,340...44,010,354
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Specc1l |
sperm antigen with calponin homology and coiled-coil domains 1-like |
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ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31837199 |
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NCBI chr20:13,337,983...13,443,665
Ensembl chr20:13,339,692...13,443,665
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Tcf12 |
transcription factor 12 |
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ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:23354436 PMID:25741868 PMID:28492532 PMID:30038786 PMID:31837199 PMID:32620954 More...
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NCBI chr 8:81,371,201...81,682,337
Ensembl chr 8:72,492,567...72,799,201
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Tfap2b |
transcription factor AP-2 beta |
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ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:31292255 |
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NCBI chr 9:29,282,703...29,312,568
Ensembl chr 9:21,786,258...21,814,520
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Tgfbr1 |
transforming growth factor, beta receptor 1 |
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ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 PMID:31837199 |
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NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:61,653,233...61,710,777
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Trps1 |
transcriptional repressor GATA binding 1 |
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ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
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NCBI chr 7:83,806,121...84,032,609
Ensembl chr 7:81,921,601...82,141,905
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Wdr19 |
WD repeat domain 19 |
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ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31837199 |
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NCBI chr14:43,396,130...43,460,012
Ensembl chr14:43,042,478...43,106,288
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Zfp462 |
zinc finger protein 462 |
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ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:28513610 |
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NCBI chr 5:69,670,085...69,810,729
Ensembl chr 5:69,670,328...69,810,327
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Adamtsl4 |
ADAMTS-like 4 |
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ISO |
ClinVar Annotator: match by term: Craniosynostosis with ectopia lentis |
ClinVar |
PMID:2056446 PMID:9536098 PMID:17576681 PMID:20564469 PMID:20702823 PMID:21051722 PMID:22338190 PMID:22736615 PMID:22871183 PMID:24033266 PMID:25741868 PMID:25975359 PMID:28492532 PMID:28642162 PMID:35378950 PMID:36089008 More...
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NCBI chr 2:183,235,634...183,247,091
Ensembl chr 2:183,235,646...183,246,848
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Rnu12 |
RNA, U12 small nuclear |
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ISO |
ClinVar Annotator: match by term: CDAGS syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2400728 PMID:9733036 PMID:23602181 PMID:25741868 PMID:28217872 PMID:34085356 More...
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NCBI chr 7:114,303,546...114,303,696
Ensembl chr 7:114,303,546...114,303,696
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Fgfr2 |
fibroblast growth factor receptor 2 |
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ISO ISS |
DNA:missense mutations:cds:p.Y281C, p.G289P (human) ClinVar Annotator: match by term: Craniofacial dysostosis | ClinVar Annotator: match by term: Craniofacial dysostosis type 1 | ClinVar Annotator: match by term: Crouzon disease | ClinVar Annotator: match by term: Crouzon syndrome OMIM:123500 DNA:missense mutations:CDS:multiple (human) CTD Direct Evidence: marker/mechanism DNA:missense mutations, silent mutation:cds:multiple (human) DNA:missense mutations:cds:multiple (human) |
ClinVar MouseDO CTD OMIM RGD |
PMID:1519658 PMID:1641873 PMID:1697263 PMID:2172978 PMID:4078868 PMID:7573032 PMID:7581378 PMID:7607643 PMID:7655462 PMID:7668257 PMID:7719329 PMID:7719344 PMID:7719345 PMID:7773284 PMID:7874170 PMID:7987400 PMID:7989400 PMID:8434615 PMID:8522336 PMID:8528214 PMID:8644708 PMID:8650126 PMID:8651276 PMID:8696350 PMID:8755573 PMID:8946174 PMID:8957519 PMID:8958319 PMID:9002682 PMID:9048930 PMID:9152842 PMID:9169049 PMID:9385368 PMID:9462761 PMID:9521581 PMID:9536098 PMID:9539778 PMID:9585583 PMID:9586546 PMID:9605588 PMID:9677057 PMID:9700203 PMID:9714439 PMID:9719378 PMID:10067911 PMID:10076886 PMID:10076887 PMID:10394936 PMID:10406670 PMID:10541159 PMID:10633130 PMID:10712195 PMID:10735635 PMID:10874645 PMID:10951518 PMID:11121055 PMID:11173845 PMID:11325814 PMID:11343323 PMID:11390973 PMID:11556600 PMID:11711827 PMID:11781872 PMID:11870239 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12186468 PMID:12357470 PMID:12477974 PMID:12884424 PMID:12884434 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15282208 PMID:15286168 PMID:15316116 PMID:15389579 PMID:15793702 PMID:15883293 PMID:15975938 PMID:15996217 PMID:16061565 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16470531 PMID:16501574 PMID:16531735 PMID:16740155 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17264867 PMID:17525745 PMID:17576681 PMID:17621648 PMID:17693524 PMID:18726952 PMID:19066959 PMID:19610084 PMID:20133659 PMID:20301628 PMID:20489451 PMID:20503384 PMID:20643727 PMID:20856019 PMID:21397175 PMID:22387015 PMID:22558232 PMID:22664175 PMID:22665975 PMID:23348274 PMID:23430493 PMID:23431754 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23754559 PMID:23787031 PMID:23995961 PMID:24016645 PMID:24127277 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25209230 PMID:25245177 PMID:25271085 PMID:25343114 PMID:25361936 PMID:25425289 PMID:25706251 PMID:25741868 PMID:25759925 PMID:25759927 PMID:25867380 PMID:25937001 PMID:26325558 PMID:26362256 PMID:26380986 PMID:26429889 PMID:26467025 PMID:26557159 PMID:27028366 PMID:27079505 PMID:27228464 PMID:27323706 PMID:27430617 PMID:27481450 PMID:27683237 PMID:28492532 PMID:28611549 PMID:28901406 PMID:29037998 PMID:29848297 PMID:31145570 PMID:32879300 PMID:36474027 PMID:11380921 PMID:7987400 PMID:7874170 PMID:11711827 More...
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RGD:12801472, RGD:155663659, RGD:12801470, RGD:12801466 |
NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:184,745,420...184,850,626
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Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: Crouzon disease |
ClinVar |
PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 PMID:9279764 PMID:9300656 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9843059 PMID:9950359 PMID:10094188 PMID:10861678 PMID:11424131 PMID:11746040 PMID:14613973 PMID:15241680 PMID:15915095 PMID:16501574 PMID:17552943 PMID:18000976 PMID:19215249 PMID:20301588 PMID:20301628 PMID:22016144 PMID:22622662 PMID:24728327 PMID:24864036 PMID:25271085 PMID:25614871 PMID:25741868 PMID:26740388 PMID:28492532 PMID:32238909 More...
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NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341
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Tcof1 |
treacle ribosome biogenesis factor 1 |
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ISO |
ClinVar Annotator: match by term: Crouzon syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr18:56,537,437...56,570,727
Ensembl chr18:54,267,026...54,300,324
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: Crouzon syndrome with acanthosis nigricans | ClinVar Annotator: match by term: Crouzon syndrome-acanthosis nigricans syndrome CTD Direct Evidence: marker/mechanism DNA:missense mutation:p.A391E(human) |
OMIM ClinVar CTD RGD |
PMID:1908846 PMID:7493034 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589686 PMID:8589699 PMID:8640234 PMID:8673103 PMID:8723101 PMID:8723106 PMID:8841188 PMID:8858131 PMID:8880573 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9300656 PMID:9438390 PMID:9452043 PMID:9525367 PMID:9536098 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9672519 PMID:9677066 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10360392 PMID:10361991 PMID:10395236 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10777366 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11426459 PMID:11529856 PMID:11746040 PMID:11754059 PMID:11879084 PMID:12707965 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15915095 PMID:16501574 PMID:16766665 PMID:16841094 PMID:16912704 PMID:17033969 PMID:17256796 PMID:17320202 PMID:17384684 PMID:17509076 PMID:17552943 PMID:17576681 PMID:17875876 PMID:17935505 PMID:18000976 PMID:18076102 PMID:18198189 PMID:18266238 PMID:18583390 PMID:18642369 PMID:18976668 PMID:19088846 PMID:19215249 PMID:19749790 PMID:20199409 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20420824 PMID:20453470 PMID:20624921 PMID:21324899 PMID:21510009 PMID:21536014 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22339077 PMID:22622662 PMID:23056398 PMID:23149434 PMID:23165795 PMID:23437153 PMID:24120763 PMID:24715719 PMID:24728327 PMID:24864036 PMID:25271085 PMID:25326635 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25809207 PMID:26380986 PMID:26740388 PMID:26818779 PMID:28230213 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29620724 PMID:29681095 PMID:29758562 PMID:30138938 PMID:30635042 PMID:30692697 PMID:31016899 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:33942288 PMID:35726512 PMID:36135330 PMID:36474027 PMID:7493034 More...
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RGD:11568032 |
NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341
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Fgd1 |
FYVE, RhoGEF and PH domain containing 1 |
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ISO |
ClinVar Annotator: match by term: TSR2-related condition |
ClinVar |
PMID:24033266 PMID:28492532 |
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NCBI chr X:23,466,791...23,509,773
Ensembl chr X:20,023,746...20,066,566
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Tsr2 |
TSR2, ribosome maturation factor |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis | ClinVar Annotator: match by term: TSR2-related condition |
OMIM ClinVar |
PMID:11424144 PMID:24033266 PMID:24942156 PMID:25741868 PMID:28492532 |
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NCBI chr X:20,064,102...20,072,673
Ensembl chr X:20,064,103...20,072,620
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Rps26 |
ribosomal protein S26 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis |
ClinVar |
PMID:17483715 PMID:19816270 PMID:20116044 PMID:23718193 PMID:24675553 PMID:24942156 PMID:28492532 More...
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NCBI chr 7:1,641,846...1,643,404
Ensembl chr X:107,822,178...107,822,525
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G |
Rps28 |
ribosomal protein S28 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | ClinVar Annotator: match by term: RPS28-related condition |
OMIM ClinVar |
PMID:24942156 PMID:25741868 PMID:28492532 |
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NCBI chr 7:14,607,801...14,609,170
Ensembl chr 7:14,607,801...14,609,170 Ensembl chr16:14,607,801...14,609,170 Ensembl chr16:14,607,801...14,609,170
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G |
Tsr2 |
TSR2, ribosome maturation factor |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis |
ClinVar |
PMID:11424144 PMID:24942156 |
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NCBI chr X:20,064,102...20,072,673
Ensembl chr X:20,064,103...20,072,620
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G |
Myh3 |
myosin heavy chain 3 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 2A (Freeman-Sheldon) |
OMIM ClinVar |
PMID:16199547 PMID:16642020 PMID:18695058 PMID:19142688 PMID:25256237 PMID:25741868 PMID:28492532 PMID:29805041 PMID:30008475 PMID:30826400 PMID:34136434 More...
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NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
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Nectin4 |
nectin cell adhesion molecule 4 |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia-syndactyly syndrome 1 | ClinVar Annotator: match by term: NECTIN4-related condition |
OMIM ClinVar |
PMID:20691405 PMID:21346770 PMID:24577405 PMID:25529316 PMID:25741868 PMID:28492532 More...
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NCBI chr13:86,335,027...86,354,152
Ensembl chr13:83,803,184...83,821,709
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Ckap2l |
cytoskeleton associated protein 2-like |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CKAP2L-related condition | ClinVar Annotator: match by term: Filippi syndrome |
OMIM CTD ClinVar |
PMID:8867657 PMID:15365457 PMID:18553552 PMID:25439729 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:116,497,186...116,524,302
Ensembl chr 3:116,498,022...116,524,366
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G |
Hdlbp |
high density lipoprotein binding protein |
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ISO |
ClinVar Annotator: match by term: Fine-Lubinsky syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 9:101,395,491...101,465,446
Ensembl chr 9:93,949,913...94,018,048
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G |
Por |
cytochrome p450 oxidoreductase |
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ISO |
ClinVar Annotator: match by term: Fine-Lubinsky syndrome |
ClinVar |
PMID:22162478 PMID:25741868 |
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NCBI chr12:26,587,674...26,655,612
Ensembl chr12:20,951,058...20,999,245
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G |
Slc39a13 |
solute carrier family 39 member 13 |
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ISO |
ClinVar Annotator: match by term: Fine-Lubinsky syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 3:97,495,229...97,504,279
Ensembl chr 3:77,037,565...77,049,226
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G |
Fras1 |
Fraser extracellular matrix complex subunit 1 |
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ISO ISS |
ClinVar Annotator: match by term: Cryptophthalmos with other malformations CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD |
PMID:9536098 PMID:12766769 PMID:16199547 PMID:17163535 PMID:17576681 PMID:18671281 PMID:22029163 PMID:23532946 PMID:24476948 PMID:24700879 PMID:25353622 PMID:25741868 PMID:26893459 PMID:27884173 PMID:28492532 PMID:28844315 PMID:29261186 PMID:30639323 PMID:31308072 PMID:31738409 PMID:33726816 PMID:34246755 PMID:34426522 PMID:34906515 More...
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NCBI chr14:13,095,370...13,506,895
Ensembl chr14:12,793,599...13,200,726
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G |
Frem1 |
Fras1 related extracellular matrix 1 |
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ISS |
OMIM:219000 |
MouseDO |
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NCBI chr 5:97,321,266...97,469,523
Ensembl chr 5:97,322,538...97,469,543
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G |
Frem2 |
FRAS1 related extracellular matrix 2 |
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ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cryptophthalmos with other malformations |
CTD MouseDO ClinVar |
PMID:17163535 PMID:18203166 PMID:25741868 PMID:26275891 PMID:26552811 PMID:28492532 More...
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NCBI chr 2:139,753,055...139,891,046
Ensembl chr 2:137,602,784...137,740,785
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G |
Grip1 |
glutamate receptor interacting protein 1 |
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ISS ISO |
OMIM:219000 ClinVar Annotator: match by term: GRIP1-related condition |
MouseDO ClinVar |
PMID:21383172 PMID:25741868 PMID:28492532 |
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NCBI chr 7:56,820,501...57,477,877
Ensembl chr 7:54,934,250...55,592,273
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G |
Fras1 |
Fraser extracellular matrix complex subunit 1 |
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ISO |
DNA:mutations:multiple (human) ClinVar Annotator: match by term: FRAS1-related condition | ClinVar Annotator: match by term: Fraser syndrome 1 |
ClinVar OMIM RGD |
PMID:9536098 PMID:12766769 PMID:16199547 PMID:16894541 PMID:17163535 PMID:17576681 PMID:18671281 PMID:21900877 PMID:22029163 PMID:23532946 PMID:24476948 PMID:24551978 PMID:24583203 PMID:24700879 PMID:25353622 PMID:25741868 PMID:26302956 PMID:26893459 PMID:27280866 PMID:27859469 PMID:27884173 PMID:28492532 PMID:28844315 PMID:29261186 PMID:30639323 PMID:31308072 PMID:31319225 PMID:31738409 PMID:31923588 PMID:31999076 PMID:32436246 PMID:32488952 PMID:33726816 PMID:34246755 PMID:34426522 PMID:34906515 PMID:34974531 PMID:35005812 PMID:35595450 PMID:12766769 More...
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RGD:1598960 |
NCBI chr14:13,095,370...13,506,895
Ensembl chr14:12,793,599...13,200,726
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G |
Frem2 |
FRAS1 related extracellular matrix 2 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 1 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:18203166 PMID:25741868 PMID:26275891 PMID:26552811 PMID:28492532 More...
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NCBI chr 2:139,753,055...139,891,046
Ensembl chr 2:137,602,784...137,740,785
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Grip1 |
glutamate receptor interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:56,820,501...57,477,877
Ensembl chr 7:54,934,250...55,592,273
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Frem2 |
FRAS1 related extracellular matrix 2 |
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IAGP ISO |
ClinVar Annotator: match by term: FREM2-related condition | ClinVar Annotator: match by term: Fraser syndrome 2 |
ClinVar OMIM RGD |
PMID:15838507 PMID:18203166 PMID:18671281 PMID:24115501 PMID:24700879 PMID:25741868 PMID:26275891 PMID:26489029 PMID:26552811 PMID:28492532 PMID:29618029 PMID:29688405 PMID:30143558 PMID:30773290 PMID:30802441 PMID:30838450 PMID:34837691 PMID:36360262 PMID:21756877 PMID:23336369 More...
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RGD:13464328, RGD:126781714 |
NCBI chr 2:139,753,055...139,891,046
Ensembl chr 2:137,602,784...137,740,785
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Frem2fpl |
Fras1 related extracellular matrix protein 2;fpl mutant |
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IAGP |
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RGD |
PMID:21756877 PMID:23336369 |
RGD:13464328, RGD:126781714 |
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Adamts14 |
ADAM metallopeptidase with thrombospondin type 1 motif, 14 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
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NCBI chr20:29,685,876...29,762,685
Ensembl chr20:29,144,354...29,219,866
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Aipl1 |
aryl hydrocarbon receptor-interacting protein-like 1 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:24426771 PMID:28492532 |
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NCBI chr10:57,154,226...57,163,455
Ensembl chr10:56,655,693...56,664,922
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Aspa |
aspartoacylase |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr10:58,390,204...58,443,790
Ensembl chr10:57,892,104...57,945,272
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Bclaf1 |
BCL2-associated transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
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NCBI chr 1:16,904,572...16,937,106
Ensembl chr 1:15,070,894...15,148,832
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Borcs6 |
BLOC-1 related complex subunit 6 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
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NCBI chr10:54,259,349...54,261,203
Ensembl chr10:53,758,093...53,762,632
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Gnb5 |
G protein subunit beta 5 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
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NCBI chr 8:84,956,629...84,985,576
Ensembl chr 8:76,073,306...76,105,069
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Grip1 |
glutamate receptor interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
OMIM ClinVar |
PMID:21383172 PMID:22510445 PMID:24033266 PMID:24357607 PMID:25741868 PMID:26539891 PMID:28492532 PMID:36474027 More...
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NCBI chr 7:56,820,501...57,477,877
Ensembl chr 7:54,934,250...55,592,273
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Lsm10 |
LSM10, U7 small nuclear RNA associated |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
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NCBI chr 5:143,649,817...143,660,391
Ensembl chr 5:138,373,119...138,377,505
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Med23 |
mediator complex subunit 23 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
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NCBI chr 1:22,309,613...22,377,745
Ensembl chr 1:20,490,315...20,537,463
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Mpc1 |
mitochondrial pyruvate carrier 1 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
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NCBI chr 1:52,437,745...52,449,399
Ensembl chr 1:52,437,741...52,449,400
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Myo18b |
myosin XVIIIb |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr12:49,421,062...49,614,127
Ensembl chr12:43,747,010...43,953,695
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Odad1 |
outer dynein arm docking complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:96,392,132...96,420,926
Ensembl chr 1:96,394,824...96,420,925
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Ptch1 |
patched 1 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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Spata22 |
spermatogenesis associated 22 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr10:58,443,736...58,461,578
Ensembl chr10:57,932,187...57,963,081
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Tlcd3a |
TLC domain containing 3A |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
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NCBI chr10:61,556,193...61,563,529
Ensembl chr10:61,058,042...61,065,283
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Wdr81 |
WD repeat domain 81 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
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NCBI chr10:60,780,268...60,793,671
Ensembl chr10:60,281,972...60,295,296
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Zxda |
zinc finger, X-linked, duplicated A |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
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NCBI chr X:59,760,871...59,766,010
Ensembl chr X:59,763,210...59,765,903 Ensembl chr X:59,763,210...59,765,903
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Myh3 |
myosin heavy chain 3 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Craniocarpotarsal dysplasia | ClinVar Annotator: match by term: Freeman-Sheldon syndrome |
CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:16642020 PMID:17576681 PMID:18414213 PMID:18695058 PMID:19142688 PMID:20924721 PMID:23265383 PMID:25256237 PMID:25740846 PMID:25741868 PMID:26945064 PMID:26996280 PMID:28492532 PMID:28584669 PMID:29805041 PMID:30008475 PMID:30379605 PMID:30826400 PMID:31030430 PMID:32732226 PMID:34136434 PMID:35169139 More...
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NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
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Alx4 |
ALX homeobox 4 |
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ISO |
ClinVar Annotator: match by term: Frontonasal dysplasia 2 |
OMIM ClinVar |
PMID:19692347 PMID:22140057 PMID:24668755 PMID:25741868 PMID:28492532 |
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NCBI chr 3:100,067,052...100,103,624
Ensembl chr 3:79,611,719...79,648,260
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Alg9 |
ALG9, alpha-1,2-mannosyltransferase |
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ISO |
ClinVar Annotator: match by term: ALG9-associated autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: Gillessen-Kaesbach-Nishimura syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:16199547 PMID:25741868 PMID:25966638 PMID:26467025 PMID:27391121 PMID:28492532 PMID:31395617 More...
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NCBI chr 8:60,013,429...60,085,159
Ensembl chr 8:51,119,365...51,182,261
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Chaf1a |
chromatin assembly factor 1 subunit A |
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ISO |
ClinVar Annotator: match by term: Craniofacial microsomia |
ClinVar |
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NCBI chr 9:961,225...987,825
Ensembl chr 9:874,051...900,654
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Foxi3 |
forkhead box I3 |
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ISO ISS |
ClinVar Annotator: match by term: Craniofacial microsomia | ClinVar Annotator: match by term: Craniofacial microsomia 1 OMIM:164210 |
ClinVar MouseDO |
PMID:28492532 PMID:36260083 PMID:37041148 |
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NCBI chr 4:104,491,834...104,496,008
Ensembl chr 4:102,933,409...102,937,655
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Frk |
fyn-related Src family tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Craniofacial microsomia 1 |
ClinVar |
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NCBI chr20:38,265,416...38,371,038
Ensembl chr20:38,265,280...38,371,114
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Pax1 |
paired box 1 |
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ISO |
ClinVar Annotator: match by term: Craniofacial microsomia |
ClinVar |
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NCBI chr 3:155,244,961...155,254,836
Ensembl chr 3:134,789,182...134,801,636
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Sf3b2 |
splicing factor 3b, subunit 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Craniofacial microsomia 1 |
OMIM CTD ClinVar |
PMID:7811205 PMID:25741868 PMID:34344887 |
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NCBI chr 1:211,999,777...212,040,686
Ensembl chr 1:202,570,423...202,590,759
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Zic3 |
Zic family member 3 |
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ISS |
OMIM:164210 |
MouseDO |
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NCBI chr X:141,159,623...141,165,587
Ensembl chr X:136,124,026...136,134,746
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Zyg11b |
zyg-11 family member B, cell cycle regulator |
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ISO |
ClinVar Annotator: match by term: Craniofacial microsomia 1 |
ClinVar |
PMID:25741868 PMID:32738032 |
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NCBI chr 5:122,985,548...123,042,735
Ensembl chr 5:122,992,147...123,042,736
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Dap3 |
death associated protein 3 |
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ISO |
ClinVar Annotator: match by term: Grange syndrome | ClinVar Annotator: match by term: YY1AP1-related condition |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:176,617,151...176,645,293
Ensembl chr 2:174,318,983...174,346,461
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Cdk13 |
cyclin-dependent kinase 13 |
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ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome |
ClinVar |
PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 PMID:28492532 PMID:29236091 More...
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NCBI chr17:51,945,975...52,040,218
Ensembl chr17:47,251,163...47,341,721
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Gli3 |
GLI family zinc finger 3 |
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ISO ISS |
DNA:mutations: :multiple OMIM:175700 ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome | ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome, severe | ClinVar Annotator: match by term: Polysyndactyly with peculiar skull shape CTD Direct Evidence: marker/mechanism DNA:mutations:exon, intron:multiple DNA:nonsense mutations, missense mutations, splice-site mutations:exon, intron:multiple |
MouseDO ClinVar CTD OMIM RGD |
PMID:1879832 PMID:6641002 PMID:9302279 PMID:9536098 PMID:10441342 PMID:10441570 PMID:10678662 PMID:12414818 PMID:12794692 PMID:14608643 PMID:15739154 PMID:15811011 PMID:16199547 PMID:16740916 PMID:17576681 PMID:18000979 PMID:18154020 PMID:18241058 PMID:20583172 PMID:20672375 PMID:22903559 PMID:24736735 PMID:25606469 PMID:25640679 PMID:25741868 PMID:26508445 PMID:27231705 PMID:28127823 PMID:28224613 PMID:28492532 PMID:29236091 PMID:30235038 PMID:30773290 PMID:30993914 PMID:31399769 PMID:32591344 PMID:33304378 PMID:34482537 PMID:34906502 PMID:24736735 PMID:22903559 PMID:10441342 PMID:15739154 More...
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RGD:12738205, RGD:12738141, RGD:12738208, RGD:12738222 |
NCBI chr17:54,134,064...54,405,198
Ensembl chr17:49,438,567...49,709,712
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Inhba |
inhibin subunit beta A |
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ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome |
ClinVar |
PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 PMID:28492532 PMID:29236091 More...
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NCBI chr17:53,787,159...53,810,942
Ensembl chr17:49,095,920...49,108,982
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Mplkip |
M-phase specific PLK1 interacting protein |
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ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome |
ClinVar |
PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 PMID:28492532 PMID:29236091 More...
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NCBI chr17:52,069,154...52,071,978
Ensembl chr17:47,373,845...47,376,204
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Rala |
RAS like proto-oncogene A |
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ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome |
ClinVar |
PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 PMID:28492532 PMID:29236091 More...
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NCBI chr17:51,787,682...51,840,738
Ensembl chr17:47,092,207...47,144,063
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Sugct |
succinylCoA:glutarate-CoA transferase |
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ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome |
ClinVar |
PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 PMID:28492532 PMID:29236091 More...
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NCBI chr17:52,072,012...52,929,852
Ensembl chr17:47,376,521...48,234,376
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Tbx4 |
T-box transcription factor 4 |
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ISO |
ClinVar Annotator: match by term: Congenital coxa vara, patella aplasia and tarsal synostosis | ClinVar Annotator: match by term: Coxopodopatellar syndrome | ClinVar Annotator: match by term: TBX4-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:11303519 PMID:15106123 PMID:16199547 PMID:23592887 PMID:24033266 PMID:25741868 PMID:27587546 PMID:28492532 PMID:29120062 PMID:29631995 PMID:29650961 PMID:30029678 PMID:30578397 PMID:31151956 PMID:31727138 PMID:31761294 PMID:31965066 PMID:32079640 PMID:32581362 PMID:32860008 PMID:35852389 PMID:36085161 More...
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NCBI chr10:71,228,145...71,258,222
Ensembl chr10:70,731,163...70,760,825
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Fgfr1 |
Fibroblast growth factor receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndrome |
OMIM CTD ClinVar |
PMID:1456217 PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 PMID:11173846 PMID:14513299 PMID:14564217 PMID:14613973 PMID:15793702 PMID:16957473 PMID:17003104 PMID:18034870 PMID:23812909 PMID:24127277 PMID:24497711 PMID:25251565 PMID:25741868 PMID:26942290 PMID:28492532 PMID:31605817 PMID:31837199 More...
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NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350
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Fgfr2 |
fibroblast growth factor receptor 2 |
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ISO |
DNA:missense mutation:cds:p.R344G (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndrome |
CTD ClinVar OMIM RGD |
PMID:7581378 PMID:7655462 PMID:7668257 PMID:7719329 PMID:7719344 PMID:7719345 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8528214 PMID:8644708 PMID:8651276 PMID:8696350 PMID:8957519 PMID:9002682 PMID:9385368 PMID:9462761 PMID:9586546 PMID:9677057 PMID:9700203 PMID:9719378 PMID:10541159 PMID:10633130 PMID:11121055 PMID:11390973 PMID:11556600 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12884424 PMID:12884434 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15389579 PMID:15975938 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16531735 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17525745 PMID:19066959 PMID:20301628 PMID:20489451 PMID:20856019 PMID:21397175 PMID:22664175 PMID:22665975 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23787031 PMID:24016645 PMID:24127277 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25271085 PMID:25706251 PMID:25741868 PMID:25759925 PMID:25867380 PMID:25937001 PMID:26362256 PMID:26380986 PMID:26467025 PMID:27079505 PMID:27323706 PMID:27481450 PMID:28492532 PMID:29848297 PMID:31145570 PMID:32879300 PMID:36474027 PMID:7874170 More...
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RGD:12801470 |
NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:184,745,420...184,850,626
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Fgf10 |
fibroblast growth factor 10 |
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ISS ISO |
OMIM:149730 ClinVar Annotator: match by term: Levy-Hollister syndrome |
MouseDO ClinVar |
PMID:16630169 PMID:17213838 PMID:25741868 PMID:26955834 PMID:28492532 |
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NCBI chr 2:52,533,939...52,610,980
Ensembl chr 2:50,800,992...50,876,866
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Fgfr2 |
fibroblast growth factor receptor 2 |
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ISO |
ClinVar Annotator: match by term: LADD syndrome 1 | ClinVar Annotator: match by term: Levy-Hollister syndrome |
OMIM ClinVar |
PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8651276 PMID:8696350 PMID:8957519 PMID:9002682 PMID:9462761 PMID:9677057 PMID:9700203 PMID:9719378 PMID:11121055 PMID:11390973 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15389579 PMID:15975938 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16501574 PMID:16531735 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17525745 PMID:18056630 PMID:18414213 PMID:20301628 PMID:20489451 PMID:20856019 PMID:21397175 PMID:22664175 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23787031 PMID:24016645 PMID:24127277 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25706251 PMID:25741868 PMID:25867380 PMID:25937001 PMID:26380986 PMID:26467025 PMID:27079505 PMID:27323706 PMID:28492532 PMID:29848297 PMID:31145570 PMID:31502745 PMID:32879300 PMID:36474027 More...
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NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:184,745,420...184,850,626
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Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 1 | ClinVar Annotator: match by term: Levy-Hollister syndrome |
ClinVar |
PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589686 PMID:8589699 PMID:8640234 PMID:8673103 PMID:8723101 PMID:8723106 PMID:8841188 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9300656 PMID:9438390 PMID:9452043 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9672519 PMID:9677066 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10360392 PMID:10361991 PMID:10395236 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10777366 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11754059 PMID:11879084 PMID:12707965 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15915095 PMID:16501574 PMID:16766665 PMID:16841094 PMID:16912704 PMID:17033969 PMID:17256796 PMID:17320202 PMID:17384684 PMID:17509076 PMID:17552943 PMID:17875876 PMID:18000976 PMID:18076102 PMID:18198189 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19749790 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20420824 PMID:20453470 PMID:20624921 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22339077 PMID:22622662 PMID:23056398 PMID:23149434 PMID:23165795 PMID:24120763 PMID:24715719 PMID:24728327 PMID:24864036 PMID:25271085 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25809207 PMID:26380986 PMID:26740388 PMID:26818779 PMID:28230213 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29620724 PMID:29681095 PMID:29758562 PMID:30138938 PMID:30635042 PMID:30692697 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:32715658 PMID:33942288 PMID:35726512 PMID:36135330 PMID:36474027 More...
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NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 2 |
ClinVar OMIM |
PMID:16501574 PMID:25614871 PMID:25741868 PMID:28483234 PMID:28492532 PMID:32715658 More...
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NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341
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G |
Fgf10 |
fibroblast growth factor 10 |
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ISO |
ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 3 |
OMIM ClinVar |
PMID:15654336 PMID:16501574 PMID:16630169 PMID:37077496 |
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NCBI chr 2:52,533,939...52,610,980
Ensembl chr 2:50,800,992...50,876,866
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G |
Fgf10 |
fibroblast growth factor 10 |
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ISO |
ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome |
ClinVar |
PMID:16630169 PMID:17213838 PMID:25741868 PMID:26955834 PMID:28492532 |
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NCBI chr 2:52,533,939...52,610,980
Ensembl chr 2:50,800,992...50,876,866
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G |
Fgfr2 |
fibroblast growth factor receptor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome |
CTD ClinVar |
PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8651276 PMID:8696350 PMID:8957519 PMID:9002682 PMID:9462761 PMID:9677057 PMID:9700203 PMID:9719378 PMID:11121055 PMID:11390973 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15389579 PMID:15975938 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16501574 PMID:16531735 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17525745 PMID:18056630 PMID:18414213 PMID:20301628 PMID:20489451 PMID:20856019 PMID:21397175 PMID:22664175 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23787031 PMID:24016645 PMID:24127277 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25706251 PMID:25741868 PMID:25867380 PMID:25937001 PMID:26380986 PMID:26467025 PMID:27079505 PMID:27323706 PMID:28492532 PMID:29848297 PMID:31145570 PMID:31502745 PMID:32879300 PMID:36474027 More...
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NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:184,745,420...184,850,626
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
ISO |
ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome |
ClinVar |
PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589686 PMID:8589699 PMID:8640234 PMID:8673103 PMID:8723106 PMID:8841188 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9300656 PMID:9438390 PMID:9452043 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9672519 PMID:9677066 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10360392 PMID:10361991 PMID:10395236 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10777366 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11754059 PMID:11879084 PMID:12707965 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15915095 PMID:16501574 PMID:16766665 PMID:16841094 PMID:16912704 PMID:17033969 PMID:17320202 PMID:17384684 PMID:17509076 PMID:17552943 PMID:17875876 PMID:18000976 PMID:18076102 PMID:18198189 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19749790 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20420824 PMID:20453470 PMID:20624921 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22622662 PMID:23056398 PMID:23149434 PMID:23165795 PMID:24120763 PMID:24715719 PMID:24728327 PMID:24864036 PMID:25271085 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25809207 PMID:26380986 PMID:26740388 PMID:26818779 PMID:28230213 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29620724 PMID:29681095 PMID:29758562 PMID:30138938 PMID:30635042 PMID:30692697 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:32715658 PMID:33942288 PMID:35726512 PMID:36135330 PMID:36474027 More...
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NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341
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G |
Abca3 |
ATP binding cassette subfamily A member 3 |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome |
ClinVar |
PMID:17517255 PMID:19647838 PMID:24871971 PMID:28492532 PMID:33110422 |
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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 |
Col3a1 |
collagen type III alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome |
ClinVar |
PMID:2049575 PMID:21086191 PMID:24033266 PMID:25637381 PMID:25741868 PMID:25758994 PMID:25846194 PMID:27011056 PMID:27964749 PMID:28492532 PMID:28748566 PMID:30374176 More...
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NCBI chr 9:54,866,646...54,902,578
Ensembl chr 9:47,374,593...47,410,547
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G |
Col5a1 |
collagen type V alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:31,606,475...31,755,097
Ensembl chr 3:11,208,512...11,354,588
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G |
Col5a2 |
collagen type V alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome |
ClinVar |
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NCBI chr 9:54,940,768...55,090,151
Ensembl chr 9:47,448,736...47,598,154
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G |
Fbn1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome |
ClinVar |
PMID:1729284 PMID:7611299 PMID:8880577 PMID:8882780 PMID:10766875 PMID:11175294 PMID:16596670 PMID:17324963 PMID:21784848 PMID:24199744 PMID:25741868 PMID:26796135 PMID:27914124 PMID:28492532 More...
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NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:112,554,925...112,750,889
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G |
Fbn2 |
fibrillin 2 |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr18:53,696,197...53,901,992
Ensembl chr18:51,499,737...51,703,976
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G |
Myh11 |
myosin heavy chain 11 |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome |
ClinVar |
PMID:22511748 PMID:24033266 PMID:25433566 PMID:25741868 PMID:26017485 PMID:26332594 PMID:27879251 PMID:28492532 PMID:29494672 PMID:29961567 More...
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NCBI chr10:1,250,554...1,345,681
Ensembl chr10:743,685...838,459
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G |
Mylk |
myosin light chain kinase |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr11:79,288,243...79,535,450
Ensembl chr11:65,783,008...66,030,261
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G |
Smad2 |
SMAD family member 2 |
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ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome |
ClinVar |
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NCBI chr18:72,124,792...72,193,345
Ensembl chr18:69,850,377...69,912,323
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G |
Smad3 |
SMAD family member 3 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A |
CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21217753 PMID:21778426 PMID:22772368 PMID:24033266 PMID:24711937 PMID:24804794 PMID:25644172 PMID:25741868 PMID:28492532 PMID:29392890 PMID:30661052 PMID:30787465 PMID:31085000 PMID:31915033 PMID:32597575 More...
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NCBI chr 8:73,022,204...73,132,324
Ensembl chr 8:64,110,039...64,236,960
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G |
Tgfb2 |
transforming growth factor, beta 2 |
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ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A |
CTD ClinVar MouseDO |
PMID:1644824 PMID:1843280 PMID:2094803 PMID:3476488 PMID:7737999 PMID:9536098 PMID:9599222 PMID:10611753 PMID:16199547 PMID:17576681 PMID:22772368 PMID:22772371 PMID:23102774 PMID:24465802 PMID:24577266 PMID:25046559 PMID:25644172 PMID:25741868 PMID:26017485 PMID:26854089 PMID:27782106 PMID:28139901 PMID:28492532 PMID:28550590 PMID:28633253 PMID:28655553 PMID:29392890 PMID:29510914 PMID:29543232 PMID:29907982 PMID:30071990 PMID:30739908 PMID:31191903 PMID:31785789 PMID:31915033 PMID:32277047 PMID:32307099 PMID:33125268 PMID:33418956 PMID:34363016 PMID:35205249 More...
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NCBI chr13:100,691,540...100,793,227
Ensembl chr13:98,160,087...98,261,405
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G |
Tgfb3 |
transforming growth factor, beta 3 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome |
CTD ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:111,435,170...111,457,646
Ensembl chr 6:105,704,236...105,726,564
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G |
Tgfbr1 |
transforming growth factor, beta receptor 1 |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A |
CTD MouseDO ClinVar |
PMID:2511639 PMID:2647812 PMID:9536098 PMID:10025408 PMID:15731757 PMID:16596670 PMID:16791849 PMID:16799921 PMID:16928994 PMID:17576681 PMID:17652900 PMID:18455604 PMID:18781618 PMID:19542084 PMID:19561605 PMID:19839986 PMID:20332227 PMID:20358619 PMID:21267002 PMID:21358634 PMID:22113417 PMID:22414221 PMID:22772368 PMID:23064905 PMID:23142374 PMID:23358096 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24793577 PMID:24931266 PMID:25110237 PMID:25116393 PMID:25326635 PMID:25326637 PMID:25504618 PMID:25521989 PMID:25589165 PMID:25637381 PMID:25715477 PMID:25741868 PMID:25834947 PMID:25907466 PMID:25944730 PMID:25985138 PMID:26848186 PMID:26877057 PMID:27037046 PMID:27125181 PMID:27146836 PMID:27153395 PMID:27611364 PMID:27647783 PMID:27879313 PMID:28152038 PMID:28209770 PMID:28387797 PMID:28492532 PMID:28550590 PMID:28655553 PMID:28659821 PMID:29192238 PMID:29510914 PMID:29706644 PMID:29907982 PMID:30059548 PMID:30219046 PMID:30701076 PMID:30739908 PMID:31279624 PMID:31624717 PMID:31915033 PMID:32339686 PMID:32897753 PMID:33256177 PMID:33436942 PMID:33824467 PMID:35092149 PMID:35830949 PMID:35903967 PMID:36237225 PMID:36584339 PMID:36937954 PMID:37998513 More...
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NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:61,653,233...61,710,777
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G |
Tgfbr2 |
transforming growth factor, beta receptor 2 |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A |
CTD MouseDO ClinVar |
PMID:8246946 PMID:9395234 PMID:9536098 PMID:9590282 PMID:9771922 PMID:9927040 PMID:11212236 PMID:12202987 PMID:12825850 PMID:15235604 PMID:15731757 PMID:16249459 PMID:16251899 PMID:16283890 PMID:16791849 PMID:16799921 PMID:16835936 PMID:16928994 PMID:17061023 PMID:17319955 PMID:17330129 PMID:17344846 PMID:17345643 PMID:17470566 PMID:17576681 PMID:17652900 PMID:17935258 PMID:18084123 PMID:18781618 PMID:18852674 PMID:19006214 PMID:19875893 PMID:19996017 PMID:20144264 PMID:20358619 PMID:20628007 PMID:20956634 PMID:21098638 PMID:21251594 PMID:21267002 PMID:21270064 PMID:21484991 PMID:21524434 PMID:22095581 PMID:22113417 PMID:22259224 PMID:22488992 PMID:22772368 PMID:22772377 PMID:23103230 PMID:23228659 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24146167 PMID:24220024 PMID:24792536 PMID:24793577 PMID:24941995 PMID:25116393 PMID:25203624 PMID:25637381 PMID:25741868 PMID:26017485 PMID:26133393 PMID:26948038 PMID:27100340 PMID:27139629 PMID:27146836 PMID:27508510 PMID:27611364 PMID:27879313 PMID:27930701 PMID:28162229 PMID:28182693 PMID:28225382 PMID:28344185 PMID:28492532 PMID:28659821 PMID:28991257 PMID:29168297 PMID:29543232 PMID:29907982 PMID:30158670 PMID:30222965 PMID:30739908 PMID:32152251 PMID:32560555 PMID:32887874 PMID:34572573 PMID:36103205 More...
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NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:115,794,537...115,883,228
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G |
Tgfbr1 |
transforming growth factor, beta receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 5 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 |
ClinVar OMIM |
PMID:2511639 PMID:2647812 PMID:10025408 PMID:15731757 PMID:16596670 PMID:16791849 PMID:16799921 PMID:16928994 PMID:17652900 PMID:18070134 PMID:18455604 PMID:18781618 PMID:18852674 PMID:19542084 PMID:19561605 PMID:19839986 PMID:20332227 PMID:21267002 PMID:21358634 PMID:22113417 PMID:22414221 PMID:23064905 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24793577 PMID:24931266 PMID:25110237 PMID:25116393 PMID:25326635 PMID:25504618 PMID:25521989 PMID:25589165 PMID:25637381 PMID:25715477 PMID:25741868 PMID:25834947 PMID:25907466 PMID:25944730 PMID:25985138 PMID:26848186 PMID:26877057 PMID:27125181 PMID:27146836 PMID:27153395 PMID:27611364 PMID:27647783 PMID:27879313 PMID:28209770 PMID:28492532 PMID:28550590 PMID:28655553 PMID:28659821 PMID:29192238 PMID:29706644 PMID:29907982 PMID:30219046 PMID:30701076 PMID:30739908 PMID:31915033 PMID:32339686 PMID:33436942 PMID:33693090 PMID:33824467 PMID:34270679 PMID:35092149 PMID:36237225 PMID:36937954 More...
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NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:61,653,233...61,710,777
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G |
Tgfbr2 |
transforming growth factor, beta receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 5 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 |
ClinVar |
PMID:16251899 PMID:16928994 PMID:18781618 PMID:18852674 PMID:19006214 PMID:21484991 PMID:22095581 PMID:22113417 PMID:22259224 PMID:23884466 PMID:24792536 PMID:25637381 PMID:25741868 PMID:28492532 PMID:29907982 PMID:30739908 PMID:32152251 More...
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NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:115,794,537...115,883,228
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G |
Fbn1 |
fibrillin 1 |
|
ISO |
ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections |
ClinVar |
PMID:845663 PMID:1301946 PMID:1569206 PMID:2005308 PMID:3495735 PMID:4750422 PMID:7611299 PMID:7951214 PMID:7977366 PMID:8004112 PMID:8406497 PMID:8541880 PMID:8791520 PMID:8894692 PMID:8941093 PMID:9241263 PMID:9338581 PMID:9399842 PMID:9401003 PMID:9452033 PMID:9477945 PMID:9536098 PMID:9837823 PMID:10441597 PMID:10464652 PMID:10486319 PMID:10533071 PMID:10612827 PMID:10647894 PMID:10756346 PMID:10874320 PMID:10942427 PMID:11068200 PMID:11108952 PMID:11137998 PMID:11139245 PMID:11143906 PMID:11170092 PMID:11175294 PMID:11251996 PMID:11524736 PMID:11700157 PMID:11702223 PMID:11722462 PMID:11748851 PMID:11826022 PMID:11875032 PMID:11880731 PMID:11933199 PMID:11967553 PMID:12068374 PMID:12161601 PMID:12203987 PMID:12203992 PMID:12402346 PMID:12446365 PMID:12700307 PMID:12938084 PMID:14695540 PMID:15032979 PMID:15054843 PMID:15062093 PMID:15161917 PMID:15241795 PMID:15583982 PMID:15733436 PMID:15880509 PMID:16199547 PMID:16220557 PMID:16222657 PMID:16342915 PMID:16476890 PMID:16571647 PMID:16677079 PMID:16756980 PMID:16835936 PMID:16905551 PMID:16971892 PMID:16995940 PMID:17224687 PMID:17253931 PMID:17418587 PMID:17503327 PMID:17576681 PMID:17618372 PMID:17627385 PMID:17657824 PMID:17663468 PMID:17679947 PMID:17680538 PMID:17701892 PMID:17718856 PMID:17884807 PMID:18079676 PMID:18087243 PMID:18435798 PMID:18471089 PMID:18615205 PMID:19002209 PMID:19012347 PMID:19159394 PMID:19161152 PMID:19293843 PMID:19328768 PMID:19349279 PMID:19446531 PMID:19533785 PMID:19561590 PMID:19618372 PMID:19659760 PMID:19720936 PMID:19780835 PMID:19802897 PMID:19839986 PMID:19863550 PMID:19941982 PMID:20082464 PMID:20132243 PMID:20200614 PMID:20301510 PMID:20564469 PMID:20591885 PMID:20886638 PMID:21034599 PMID:21135753 PMID:21332468 PMID:21542060 PMID:21784848 PMID:21883168 PMID:21895641 PMID:21907952 PMID:21932315 PMID:22262941 PMID:22393277 PMID:22539873 PMID:22772377 PMID:22913777 PMID:23278365 PMID:23684891 PMID:23719250 PMID:23744319 PMID:23794388 PMID:24033266 PMID:24161884 PMID:24199744 PMID:24220124 PMID:24296667 PMID:24635535 PMID:24698609 PMID:24793577 PMID:24833718 PMID:24941995 PMID:25053872 PMID:25101912 PMID:25525159 PMID:25644172 PMID:25652356 PMID:25656438 PMID:25741868 PMID:25907466 PMID:25944730 PMID:26133393 PMID:26272055 PMID:26333736 PMID:26410935 PMID:26621581 PMID:26770496 PMID:26787436 PMID:26899731 PMID:27112580 PMID:27146836 PMID:27175573 PMID:27229674 PMID:27234404 PMID:27274304 PMID:27353645 PMID:27582083 PMID:27611364 PMID:27724990 PMID:27906200 PMID:28050602 PMID:28117189 PMID:28391405 PMID:28468757 PMID:28492532 PMID:28539832 PMID:28550590 PMID:28642162 PMID:28650953 PMID:28855619 PMID:28901506 PMID:28941062 PMID:28973303 PMID:29198452 PMID:29357934 PMID:29510914 PMID:29543232 PMID:29768367 PMID:29848614 PMID:29875124 PMID:29907982 PMID:30192042 PMID:30341550 PMID:30371227 PMID:30393980 PMID:30675029 PMID:30739908 PMID:30838813 PMID:31098894 PMID:31167969 PMID:31211624 PMID:31211626 PMID:31227806 PMID:31279624 PMID:31447099 PMID:31536524 PMID:31730815 PMID:31751304 PMID:31825148 PMID:31830381 PMID:31950671 PMID:32123317 PMID:32679894 PMID:32989268 PMID:33174221 PMID:33200202 PMID:33282382 PMID:33394117 PMID:33483583 PMID:33483584 PMID:33711475 PMID:33824467 PMID:33844962 PMID:34140103 PMID:34150014 PMID:34281902 PMID:34318135 PMID:34456093 PMID:34498425 PMID:34550612 PMID:35042684 PMID:35058154 PMID:35237611 PMID:35741789 PMID:35916808 PMID:35943490 PMID:36670079 PMID:36729443 PMID:37042257 PMID:37684520 PMID:38190127 More...
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NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:112,554,925...112,750,889
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G |
Tgfbr2 |
transforming growth factor, beta receptor 2 |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections |
OMIM ClinVar |
PMID:8199354 PMID:8246946 PMID:8317497 PMID:9395234 PMID:9536098 PMID:9590282 PMID:9771922 PMID:9927040 PMID:11212236 PMID:12202987 PMID:12821554 PMID:12825850 PMID:15235604 PMID:15299527 PMID:15731757 PMID:1602724 |