|
G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
|
ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
|
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
|
|
G |
Ahsg |
alpha-2-HS-glycoprotein |
|
ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
|
NCBI chr11:78,121,388...78,127,998
Ensembl chr11:78,117,918...78,145,999
|
|
G |
Colec11 |
collectin sub-family member 11 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21258343 |
|
NCBI chr 6:45,223,974...45,256,640
Ensembl chr 6:45,223,980...45,271,145
|
|
G |
Crygs |
crystallin, gamma S |
|
ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
|
NCBI chr11:78,207,170...78,212,273
Ensembl chr11:78,207,170...78,212,273
|
|
G |
Dnajb11 |
DnaJ heat shock protein family (Hsp40) member B11 |
|
ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
|
NCBI chr11:78,151,750...78,168,259
Ensembl chr11:78,150,429...78,180,407
|
|
G |
Eif4a2 |
eukaryotic translation initiation factor 4A2 |
|
ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
|
NCBI chr11:77,764,126...77,770,810
Ensembl chr11:77,764,124...77,770,781
|
|
G |
Fetub |
fetuin B |
|
ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
|
NCBI chr11:78,082,158...78,093,022
Ensembl chr11:78,082,156...78,095,135
|
|
G |
Hrg |
histidine-rich glycoprotein |
|
ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
|
NCBI chr11:78,054,488...78,069,402
Ensembl chr11:78,054,498...78,069,389
|
|
G |
Kng1 |
kininogen 1 |
|
ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
|
NCBI chr11:77,812,757...77,835,555
Ensembl chr11:77,812,752...77,835,555
|
|
G |
Masp1 |
MBL associated serine protease 1 |
|
ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 | ClinVar Annotator: match by term: Craniosynostosis with lid anomalies 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...
|
|
NCBI chr11:77,334,794...77,405,271
Ensembl chr11:77,334,859...77,402,974
|
|
G |
Rfc4 |
replication factor C subunit 4 |
|
ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
|
NCBI chr11:77,749,642...77,764,123
Ensembl chr11:77,749,638...77,764,122
|
|
G |
Rpl39l1 |
ribosomal protein L39 like 1 |
|
ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
|
NCBI chr10:5,455,712...5,459,828
Ensembl chr10:5,454,559...5,462,029
|
|
G |
Rtp1 |
receptor (chemosensory) transporter protein 1 |
|
ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
|
NCBI chr11:77,422,982...77,425,498
Ensembl chr11:77,422,982...77,425,498
|
|
G |
Snora81 |
small nucleolar RNA, H/ACA box 81 |
|
ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
|
NCBI chr11:77,767,579...77,767,756
Ensembl chr11:77,767,579...77,767,756
|
|
G |
St6gal1 |
ST6 beta-galactoside alpha-2,6-sialyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
|
NCBI chr11:77,526,837...77,653,474
Ensembl chr11:77,526,837...77,653,310
|
|
G |
Tbccd1 |
TBCC domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
|
NCBI chr11:78,168,386...78,205,314
Ensembl chr11:78,168,388...78,205,523
|
|
|
G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
|
ISO |
DNA:missense mutation: :p.P252R (human) |
RGD |
PMID:7874169 PMID:25251565 |
RGD:11567243, RGD:11567271 |
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
|
|
G |
Fgfr2 |
fibroblast growth factor receptor 2 |
severity treatment |
ISO ISS |
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 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 DNA:missense mutation:cds:p.P253R (human) DNA:missense mutation:cds:p.A172F (human) DNA:missense mutations:cds:p.S252W, p.P253R (human) CTD Direct Evidence: marker/mechanism DNA:mutations:cds: |
OMIM ClinVar MouseDO CTD 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:23908597 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:27683237 PMID:28166811 PMID:28492532 PMID:28611549 PMID:30919572 PMID:31145570 PMID:36474027 PMID:270283566 PMID:10735635 PMID:23532954 PMID:17694057 PMID:9677057 PMID:7668257 More...
|
RGD:12801488, RGD:12801475, RGD:12801474, RGD:12801413, RGD:8547743 |
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
|
|
G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
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:17552943 PMID:19215249 PMID:20301588 PMID:20301628 PMID:22016144 PMID:22622662 PMID:24728327 PMID:25271085 PMID:25741868 PMID:26740388 PMID:28492532 PMID:32238909 More...
|
|
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
|
|
G |
Twist1 |
twist family bHLH transcription factor 1 |
|
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...
|
RGD:1624353 |
NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
|
|
|
G |
Polr1a |
RNA polymerase I subunit A |
|
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...
|
|
NCBI chr 4:103,950,051...104,014,022
Ensembl chr 4:103,950,051...104,014,020
|
|
|
G |
Zswim6 |
zinc finger, SWIM-type containing 6 |
|
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 |
|
NCBI chr 2:39,211,131...39,378,877
Ensembl chr 2:39,212,949...39,378,924
|
|
|
G |
Cyp51 |
cytochrome P450, family 51 |
|
ISO |
|
RGD |
PMID:21705796 |
RGD:41412188 |
NCBI chr 4:30,036,956...30,055,410
Ensembl chr 4:30,036,865...30,055,410
|
|
G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Osteodysgenesis, multisynostotic with fractures DNA:missense mutations:cds:multiple (human) |
CTD ClinVar 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: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:28492532 PMID:31145570 PMID:36474027 PMID:10633130 More...
|
RGD:12801485 |
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
|
|
G |
Por |
cytochrome p450 oxidoreductase |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: POR Deficiency |
CTD ClinVar |
PMID:12116245 PMID:14758361 PMID:15220035 PMID:15793702 PMID:16906539 PMID:18551037 PMID:20188793 PMID:20940534 PMID:21741353 PMID:22162478 PMID:25741868 PMID:27068427 PMID:27496950 PMID:28492532 PMID:36474027 More...
|
|
NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
|
|
|
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:28492532 PMID:31145570 PMID:36474027 More...
|
|
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
|
|
G |
Por |
cytochrome p450 oxidoreductase |
|
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...
|
|
NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
|
|
|
G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
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:10851026 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:18552176 PMID:20133659 PMID:20301628 PMID:20489451 PMID:20856019 PMID:21367659 PMID:21397175 PMID:22238366 PMID:22558232 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:25271085 PMID:25706251 PMID:25741868 PMID:25759925 PMID:25867380 PMID:25937001 PMID:26362256 PMID:26380986 PMID:26467025 PMID:26619011 PMID:27079505 PMID:28492532 PMID:31145570 PMID:36474027 More...
|
|
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
|
|
|
G |
Ppp3ca |
protein phosphatase 3 catalytic subunit alpha |
|
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 |
|
NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974
|
|
|
G |
Gja1 |
gap junction protein, alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive |
OMIM CTD ClinVar |
PMID:11146471 PMID:23951358 PMID:25741868 PMID:28492532 |
|
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
|
|
|
G |
Fbln1 |
fibulin 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects |
ClinVar |
PMID:24084572 |
|
NCBI chr 7:116,310,582...116,390,075
Ensembl chr 7:116,310,582...116,390,075
|
|
|
G |
Arhgap39 |
Rho GTPase activating protein 39 |
|
ISO |
ClinVar Annotator: match by term: Baller-Gerold syndrome |
ClinVar |
PMID:12734318 PMID:12952869 PMID:28492532 |
|
NCBI chr 7:108,446,280...108,538,875
Ensembl chr 7:108,446,282...108,538,831
|
|
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 |
|
NCBI chr 7:108,443,772...108,446,116
Ensembl chr 7:108,443,782...108,446,121
|
|
G |
Gpt |
glutamic--pyruvic transaminase |
|
ISO |
ClinVar Annotator: match by term: Baller-Gerold syndrome |
ClinVar |
PMID:12734318 PMID:28492532 |
|
NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494
|
|
G |
Lrrc14 |
leucine rich repeat containing 14 |
|
ISO |
ClinVar Annotator: match by term: Baller-Gerold syndrome |
ClinVar |
PMID:12734318 PMID:12952869 PMID:28492532 |
|
NCBI chr 7:108,430,755...108,437,118
Ensembl chr 7:108,430,792...108,437,111
|
|
G |
Lrrc24 |
leucine rich repeat containing 24 |
|
ISO |
ClinVar Annotator: match by term: Baller-Gerold syndrome |
ClinVar |
PMID:12734318 PMID:12952869 PMID:28492532 |
|
NCBI chr 7:108,437,296...108,444,561
Ensembl chr 7:108,437,296...108,444,438
|
|
G |
Mfsd3 |
major facilitator superfamily domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Baller-Gerold syndrome |
ClinVar |
PMID:12734318 PMID:28492532 |
|
NCBI chr 7:108,419,644...108,423,469
Ensembl chr 7:108,421,350...108,423,461
|
|
G |
Recql4 |
RecQ like helicase 4 |
|
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...
|
|
NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619
|
|
G |
Zfp251 |
zinc finger protein 251 |
|
ISO |
ClinVar Annotator: match by term: Baller-Gerold syndrome |
ClinVar |
PMID:12734318 PMID:12952869 PMID:28492532 |
|
NCBI chr 7:108,568,564...108,598,593
Ensembl chr 7:108,568,597...108,598,623
|
|
|
G |
Ripk4 |
receptor-interacting serine-threonine kinase 4 |
|
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...
|
|
NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799
|
|
|
G |
Chuk |
component of inhibitor of nuclear factor kappa B kinase complex |
|
ISO |
ClinVar Annotator: match by term: Bartsocas-Papas syndrome 2 |
OMIM ClinVar |
PMID:25691407 |
|
NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065
|
|
|
G |
Med25 |
mediator complex subunit 25 |
|
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...
|
|
NCBI chr 1:95,359,961...95,375,827
Ensembl chr 1:95,360,284...95,375,877
|
|
|
G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
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:10851026 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:18552176 PMID:19610084 PMID:20301628 PMID:20489451 PMID:20856019 PMID:21367659 PMID:21397175 PMID:22238366 PMID:22664175 PMID:23002168 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:25425289 PMID:25706251 PMID:25741868 PMID:25867380 PMID:25937001 PMID:26325558 PMID:26380986 PMID:26429889 PMID:26467025 PMID:26619011 PMID:27079505 PMID:28492532 PMID:31145570 PMID:36474027 More...
|
|
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
|
|
|
G |
Asxl1 |
ASXL transcriptional regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Bohring syndrome | 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:30147881 PMID:30158690 PMID:31692235 PMID:31969346 PMID:32581362 PMID:33529703 More...
|
|
NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538
|
|
G |
Klhl7 |
kelch-like family member 7 |
|
ISO |
ClinVar Annotator: match by term: Bohring-Opitz syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
|
|
|
G |
Rps23 |
ribosomal protein S23 |
|
ISO |
ClinVar Annotator: match by term: Brachycephaly, trichomegaly, and developmental delay |
OMIM ClinVar |
PMID:25741868 PMID:28257692 |
|
NCBI chr 2:22,079,339...22,080,909
Ensembl chr 2:22,079,302...22,080,918
|
|
|
G |
Hoxd13 |
homeo box D13 |
|
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 |
|
NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
|
|
|
G |
Cd96 |
CD96 molecule |
|
ISO |
ClinVar Annotator: match by term: C syndrome |
OMIM ClinVar |
PMID:16199547 PMID:17847009 PMID:25741868 PMID:28492532 PMID:34906502 PMID:37673932 More...
|
|
NCBI chr11:54,702,290...54,776,618
Ensembl chr11:54,702,290...54,776,621
|
|
|
G |
Pitx1 |
paired-like homeodomain 1 |
|
ISO |
ClinVar Annotator: match by term: Liebenberg syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr17:8,794,134...8,800,292
Ensembl chr17:8,794,134...8,800,291
|
|
|
G |
Bag2 |
BAG cochaperone 2 |
|
ISO |
ClinVar Annotator: match by term: Acrocephalopolysyndactyly Type II | ClinVar Annotator: match by term: Carpenter syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:35,970,033...35,980,677
Ensembl chr 9:35,970,033...35,980,721
|
|
G |
Megf8 |
multiple EGF-like-domains 8 |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism OMIM:201000 | OMIM:614976 ClinVar Annotator: match by term: Carpenter syndrome |
CTD MouseDO ClinVar |
|
|
NCBI chr 1:80,902,236...80,951,614
Ensembl chr 1:80,902,574...80,951,613
|
|
G |
Rab23 |
RAB23, member RAS oncogene family |
|
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...
|
|
NCBI chr 9:35,943,522...35,967,367
Ensembl chr 9:35,944,085...35,966,927
|
|
|
G |
Bag2 |
BAG cochaperone 2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:35,970,033...35,980,677
Ensembl chr 9:35,970,033...35,980,721
|
|
G |
Rab23 |
RAB23, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 1 | ClinVar Annotator: match by term: RAB23-related condition |
OMIM ClinVar |
PMID:17503333 PMID:20358613 PMID:21412941 PMID:23599695 PMID:24458945 PMID:25741868 PMID:27872624 PMID:28213671 PMID:28492532 More...
|
|
NCBI chr 9:35,943,522...35,967,367
Ensembl chr 9:35,944,085...35,966,927
|
|
|
G |
Actmap |
actin maturation protease |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,490,313...82,499,841
Ensembl chr 1:82,490,363...82,499,841
|
|
G |
Akt2 |
AKT serine/threonine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817
|
|
G |
Arhgef1 |
Rho guanine nucleotide exchange factor 1 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,499,026...80,520,954
Ensembl chr 1:80,499,131...80,520,953
|
|
G |
Atp1a3 |
ATPase Na+/K+ transporting subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
|
|
G |
Axl |
Axl receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,265,088...81,296,278
Ensembl chr 1:81,265,088...81,296,265
|
|
G |
B3gnt8 |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,135,602...81,138,501
Ensembl chr 1:81,135,499...81,142,263
|
|
G |
B9d2 |
B9 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356
|
|
G |
Bckdha |
branched chain keto acid dehydrogenase E1 subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862
|
|
G |
Blvrb |
biliverdin reductase B |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,738,646...82,756,312
Ensembl chr 1:82,738,695...82,770,375
|
|
G |
C1h19orf47 |
similar to human chromosome 19 open reading frame 47 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,844,309...82,871,187
Ensembl chr 1:82,844,286...82,868,320
|
|
G |
Ccdc97 |
coiled-coil domain containing 97 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,219,225...81,227,017
Ensembl chr 1:81,219,230...81,226,986
|
|
G |
Cd79a |
CD79a molecule |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,493,581...80,497,936
Ensembl chr 1:80,493,581...80,497,935
|
|
G |
Ceacam15 |
CEA cell adhesion molecule 15 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:77,368,376...77,373,343
Ensembl chr 1:77,368,966...77,372,663
|
|
G |
Ceacam4 |
CEA cell adhesion molecule 4 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,376,667...80,382,943
Ensembl chr 1:80,376,648...80,382,915
|
|
G |
Ceacam6 |
CEA cell adhesion molecule 6 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,416,531...80,434,668
Ensembl chr 1:80,416,531...80,434,668
|
|
G |
Cic |
capicua transcriptional repressor |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,853,920...80,880,537
Ensembl chr 1:80,853,920...80,880,532
|
|
G |
Cnfn |
cornifelin |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,949,699...80,953,747
Ensembl chr 1:80,951,600...80,953,747
|
|
G |
Coq8b |
coenzyme Q8B |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,525,578...82,549,182
Ensembl chr 1:82,526,568...82,549,180
|
|
G |
Cyp2a1 |
cytochrome P450, family 2, subfamily a, polypeptide 1 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,231,611...82,244,887
Ensembl chr 1:82,231,611...82,244,887
|
|
G |
Cyp2a3 |
cytochrome P450, family 2, subfamily a, polypeptide 3 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,171,914...82,179,980
Ensembl chr 1:82,169,949...82,179,979
|
|
G |
Cyp2b3 |
cytochrome P450, family 2, subfamily b, polypeptide 3 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,652,762...81,732,153
Ensembl chr 1:81,652,787...81,732,143
|
|
G |
Cyp2f4 |
cytochrome P450, family 2, subfamily f, polypeptide 4 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,416,107...82,429,897
Ensembl chr 1:82,416,130...82,429,896
|
|
G |
Cyp2s1 |
cytochrome P450, family 2, subfamily s, polypeptide 1 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,309,948...81,325,303
Ensembl chr 1:81,310,451...81,325,303
|
|
G |
Dedd2 |
death effector domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,789,084...80,807,789
Ensembl chr 1:80,792,000...80,807,714
|
|
G |
Dll3 |
delta like canonical Notch ligand 3 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750
|
|
G |
Dmac2 |
distal membrane arm assembly component 2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,128,760...81,134,810
Ensembl chr 1:81,128,857...81,134,812
|
|
G |
Dmrtc2 |
DMRT-like family C2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,466,259...80,473,883
Ensembl chr 1:80,466,132...80,473,531
|
|
G |
Dyrk1b |
dual specificity tyrosine phosphorylation regulated kinase 1B |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,479,168...83,497,011
Ensembl chr 1:83,479,147...83,487,169
|
|
G |
Egln2 |
egl-9 family hypoxia-inducible factor 2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,451,554...82,459,809
Ensembl chr 1:82,451,555...82,459,751
|
|
G |
Eid2 |
EP300 interacting inhibitor of differentiation 2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,538,274...83,539,599
|
|
G |
Eid2b |
EP300 interacting inhibitor of differentiation 2B |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,545,530...83,547,338
Ensembl chr 1:83,545,563...83,546,734
|
|
G |
Erf |
Ets2 repressor factor |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
|
|
G |
Erich4 |
glutamate-rich 4 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,123,556...81,125,296
Ensembl chr 1:81,123,556...81,125,296
|
|
G |
Exosc5 |
exosome component 5 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,168,128...81,177,266
Ensembl chr 1:81,166,023...81,177,265
|
|
G |
Fbl |
fibrillarin |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,469,832...83,478,932
Ensembl chr 1:83,469,832...83,478,932
|
|
G |
Fcgbp |
Fc gamma binding protein |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,374,979...83,413,082
Ensembl chr 1:83,372,127...83,413,083
|
|
G |
Grik5 |
glutamate ionotropic receptor kainate type subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,605,878...80,667,896
Ensembl chr 1:80,605,892...80,667,125
|
|
G |
Gsk3a |
glycogen synthase kinase 3 alpha |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,815,843...80,825,732
Ensembl chr 1:80,815,850...80,825,802
|
|
G |
Hipk4 |
homeodomain interacting protein kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,810,708...82,821,080
Ensembl chr 1:82,810,708...82,821,077
|
|
G |
Hnrnpul1 |
heterogeneous nuclear ribonucleoprotein U-like 1 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,228,404...81,264,121
Ensembl chr 1:81,228,404...81,262,592
|
|
G |
Itpkc |
inositol-trisphosphate 3-kinase C |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,500,957...82,522,533
Ensembl chr 1:82,500,957...82,522,779
|
|
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
|
|
G |
Lipe |
lipase E, hormone sensitive type |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,965,612...80,984,313
Ensembl chr 1:80,965,627...80,984,310
|
|
G |
Ltbp4 |
latent transforming growth factor beta binding protein 4 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,600,136...82,634,346
Ensembl chr 1:82,600,136...82,632,178
|
|
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
|
|
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
|
|
G |
Megf8 |
multiple EGF-like-domains 8 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23063620 PMID:25326635 PMID:25741868 PMID:28492532 PMID:28914635 PMID:29168297 More...
|
|
NCBI chr 1:80,902,236...80,951,614
Ensembl chr 1:80,902,574...80,951,613
|
|
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
|
|
G |
Numbl |
NUMB-like, endocytic adaptor protein |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,549,814...82,573,788
Ensembl chr 1:82,550,054...82,573,776
|
|
G |
Pafah1b3 |
platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,881,263...80,883,789
Ensembl chr 1:80,881,309...80,883,893
|
|
G |
Pld3 |
phospholipase D family, member 3 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,821,863...82,844,280
Ensembl chr 1:82,821,875...82,844,072
|
|
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
|
|
G |
Pou2f2 |
POU class 2 homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,682,330...80,769,756
Ensembl chr 1:80,685,741...80,724,261
|
|
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
|
|
G |
Prx |
periaxin |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407
|
|
G |
Psmc4 |
proteasome 26S subunit, ATPase 4 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,349,127...83,357,497
Ensembl chr 1:83,348,592...83,357,494
|
|
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
|
|
G |
Rabac1 |
Rab acceptor 1 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,564,029...80,567,164
Ensembl chr 1:80,564,033...80,567,163
|
|
G |
Rps16 |
ribosomal protein S16 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,643,066...83,646,056
Ensembl chr 1:83,643,130...83,646,206
|
|
G |
Rps19 |
ribosomal protein S19 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,480,718...80,486,511
Ensembl chr 1:80,480,951...80,486,508
|
|
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
|
|
G |
Sertad1 |
SERTA domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,775,692...82,778,961
Ensembl chr 1:82,775,252...82,779,091
|
|
G |
Sertad3 |
SERTA domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,763,535...82,767,271
Ensembl chr 1:82,763,149...82,769,001
|
|
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
|
|
G |
Snrpa |
small nuclear ribonucleoprotein polypeptide A |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,481,770...82,490,540
Ensembl chr 1:82,481,770...82,490,538
|
|
G |
Sptbn4 |
spectrin, beta, non-erythrocytic 4 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,650,750...82,738,345
Ensembl chr 1:82,650,751...82,737,228
|
|
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
|
|
G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
|
|
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
|
|
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
|
|
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
|
|
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
|
|
G |
Zfp11 |
zinc finger protein 11 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr12:27,028,067...27,040,846
Ensembl chr12:27,028,115...27,041,365
|
|
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
|
|
G |
Zfp574 |
zinc finger protein 574 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,667,984...80,678,257
Ensembl chr 1:80,664,259...80,679,427
|
|
G |
Znf780b |
zinc finger protein 780B |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,009,174...83,030,463
Ensembl chr 1:83,009,189...83,082,107
|
|
|
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...
|
|
NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593
|
|
|
G |
Nectin1 |
nectin cell adhesion molecule 1 |
|
ISO |
ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome | ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, MARGARITA ISLAND TYPE | ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, TYPE 4 | 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 More...
|
|
NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
|
|
|
G |
P4hb |
prolyl 4-hydroxylase subunit beta |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cole-Carpenter syndrome |
CTD ClinVar |
PMID:25741868 |
|
NCBI chr10:105,836,972...105,848,583
Ensembl chr10:105,836,982...105,848,500
|
|
G |
Sec24d |
SEC24 homolog D, COPII coat complex component |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 2:211,418,557...211,526,588
Ensembl chr 2:211,418,623...211,526,587
|
|
|
G |
P4hb |
prolyl 4-hydroxylase subunit beta |
|
ISO |
ClinVar Annotator: match by term: Cole-Carpenter syndrome 1 |
OMIM ClinVar |
PMID:25683117 PMID:25741868 PMID:28492532 PMID:29263160 PMID:30063094 |
|
NCBI chr10:105,836,972...105,848,583
Ensembl chr10:105,836,982...105,848,500
|
|
|
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...
|
|
NCBI chr 2:211,418,557...211,526,588
Ensembl chr 2:211,418,623...211,526,587
|
|
|
G |
Wdpcp |
WD repeat containing planar cell polarity effector |
|
ISO |
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 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
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...
|
|
NCBI chr14:95,645,955...95,977,120
Ensembl chr14:95,646,038...95,977,113
|
|
|
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 |
|
NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458
|
|
G |
Ift43 |
intraflagellar transport 43 |
|
ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
|
|
NCBI chr 6:105,729,734...105,806,257
Ensembl chr 6:105,729,792...105,806,257
|
|
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 6:31,748,517...31,768,564
Ensembl chr 6:31,748,474...31,768,101
|
|
G |
Tgfb3 |
transforming growth factor, beta 3 |
|
ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia |
ClinVar |
|
|
NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564
|
|
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...
|
|
NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
|
|
G |
Wdr35 |
WD repeat domain 35 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 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...
|
|
NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029
|
|
|
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...
|
|
NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458
|
|
G |
Mbd4 |
methyl-CpG binding domain 4 DNA glycosylase |
|
ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:148,893,049...148,904,833
Ensembl chr 4:148,894,280...148,904,982
|
|
G |
Rho |
rhodopsin |
|
ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773
|
|
|
G |
Matn3 |
matrilin 3 |
|
ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 6:31,748,517...31,768,564
Ensembl chr 6:31,748,474...31,768,101
|
|
G |
Spag17 |
sperm associated antigen 17 |
|
ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 |
ClinVar |
|
|
NCBI chr 2:187,264,004...187,511,061
Ensembl chr 2:187,264,009...187,510,501
|
|
G |
Wdr35 |
WD repeat domain 35 |
|
ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 | ClinVar Annotator: match by term: WDR35-related disorder DNA:missense mutation:cds:p.L520P (human) |
OMIM ClinVar 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...
|
RGD:11553909 |
NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029
|
|
|
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...
|
|
NCBI chr 6:105,729,734...105,806,257
Ensembl chr 6:105,729,792...105,806,257
|
|
|
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:32165824 PMID:32483926 PMID:33517396 PMID:34295353 PMID:36909829 PMID:22228095 More...
|
RGD:11552606 |
NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
|
|
|
G |
Foxi3 |
forkhead box I3 |
|
ISO |
ClinVar Annotator: match by term: Craniofacial microsomia 2 | ClinVar Annotator: match by term: FOXI3-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:36260083 PMID:37041148 |
|
NCBI chr 4:102,933,487...102,937,655
Ensembl chr 4:102,933,409...102,937,655
|
|
|
G |
Acadsb |
acyl-CoA dehydrogenase, short/branched chain |
|
ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
|
NCBI chr 1:186,188,939...186,227,796
Ensembl chr 1:186,188,987...186,230,379
|
|
G |
Actmap |
actin maturation protease |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,490,313...82,499,841
Ensembl chr 1:82,490,363...82,499,841
|
|
G |
Akt2 |
AKT serine/threonine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817
|
|
G |
Aloxe3 |
arachidonate epidermal lipoxygenase 3 |
|
ISO |
ClinVar Annotator: match by term: Brachycephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
|
|
G |
Alx4 |
ALX homeobox 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 3:79,611,682...79,648,260
Ensembl chr 3:79,611,719...79,648,260
|
|
G |
Arhgef1 |
Rho guanine nucleotide exchange factor 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,499,026...80,520,954
Ensembl chr 1:80,499,131...80,520,953
|
|
G |
Ate1 |
arginyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
|
NCBI chr 1:184,961,548...185,081,112
Ensembl chr 1:184,963,562...185,080,908
|
|
G |
Atp1a3 |
ATPase Na+/K+ transporting subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
|
|
G |
Axin2 |
axin 2 |
|
ISS ISO |
OMIM:123100 | OMIM:182212 | OMIM:600593 | OMIM:600775 | OMIM:604757 | OMIM:615314 | OMIM:615529 ClinVar Annotator: match by term: Craniosynostosis |
MouseDO ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
|
|
G |
Axl |
Axl receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,265,088...81,296,278
Ensembl chr 1:81,265,088...81,296,265
|
|
G |
B3gnt8 |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,135,602...81,138,501
Ensembl chr 1:81,135,499...81,142,263
|
|
G |
B9d2 |
B9 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356
|
|
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 8:21,013,865...21,437,934
Ensembl chr 8:21,013,944...21,437,930
|
|
G |
Bckdha |
branched chain keto acid dehydrogenase E1 subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862
|
|
G |
Blvrb |
biliverdin reductase B |
|
ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,738,646...82,756,312
Ensembl chr 1:82,738,695...82,770,375
|
|
G |
Bmp2 |
bone morphogenetic protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23160099 |
|
NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397
|
|
G |
Btbd16 |
BTB domain containing 16 |
|
ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
|
NCBI chr 1:185,334,971...185,389,518
Ensembl chr 1:185,335,725...185,389,517
|
|
G |
C1h10orf120 |
similar to human chromosome 10 open reading frame 120 |
|
ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
|
NCBI chr 1:185,910,420...185,913,478
Ensembl chr 1:185,910,420...185,913,448
|
|
G |
C1h10orf88 |
similar to human chromosome 10 open reading frame 88 |
|
ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
|
NCBI chr 1:186,132,360...186,149,932
Ensembl chr 1:186,132,848...186,149,425
|
|
G |
C1h19orf47 |
similar to human chromosome 19 open reading frame 47 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,844,309...82,871,187
Ensembl chr 1:82,844,286...82,868,320
|
|
G |
Ccdc97 |
coiled-coil domain containing 97 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,219,225...81,227,017
Ensembl chr 1:81,219,230...81,226,986
|
|
G |
Cd79a |
CD79a molecule |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,493,581...80,497,936
Ensembl chr 1:80,493,581...80,497,935
|
|
G |
Ceacam15 |
CEA cell adhesion molecule 15 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:77,368,376...77,373,343
Ensembl chr 1:77,368,966...77,372,663
|
|
G |
Ceacam4 |
CEA cell adhesion molecule 4 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,376,667...80,382,943
Ensembl chr 1:80,376,648...80,382,915
|
|
G |
Ceacam6 |
CEA cell adhesion molecule 6 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,416,531...80,434,668
Ensembl chr 1:80,416,531...80,434,668
|
|
G |
Cic |
capicua transcriptional repressor |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,853,920...80,880,537
Ensembl chr 1:80,853,920...80,880,532
|
|
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 |
|
NCBI chr13:29,493,554...29,715,151
Ensembl chr13:29,493,596...29,715,146
|
|
G |
Cnfn |
cornifelin |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,949,699...80,953,747
Ensembl chr 1:80,951,600...80,953,747
|
|
G |
Coq8b |
coenzyme Q8B |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,525,578...82,549,182
Ensembl chr 1:82,526,568...82,549,180
|
|
G |
Cuzd1 |
CUB and zona pellucida-like domains 1 |
|
ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
|
NCBI chr 1:186,089,422...186,130,536
Ensembl chr 1:186,089,423...186,102,546
|
|
G |
Cyp2a1 |
cytochrome P450, family 2, subfamily a, polypeptide 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,231,611...82,244,887
Ensembl chr 1:82,231,611...82,244,887
|
|
G |
Cyp2a3 |
cytochrome P450, family 2, subfamily a, polypeptide 3 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,171,914...82,179,980
Ensembl chr 1:82,169,949...82,179,979
|
|
G |
Cyp2b3 |
cytochrome P450, family 2, subfamily b, polypeptide 3 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,652,762...81,732,153
Ensembl chr 1:81,652,787...81,732,143
|
|
G |
Cyp2f4 |
cytochrome P450, family 2, subfamily f, polypeptide 4 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,416,107...82,429,897
Ensembl chr 1:82,416,130...82,429,896
|
|
G |
Cyp2s1 |
cytochrome P450, family 2, subfamily s, polypeptide 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,309,948...81,325,303
Ensembl chr 1:81,310,451...81,325,303
|
|
G |
Dedd2 |
death effector domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,789,084...80,807,789
Ensembl chr 1:80,792,000...80,807,714
|
|
G |
Dll3 |
delta like canonical Notch ligand 3 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750
|
|
G |
Dmac2 |
distal membrane arm assembly component 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,128,760...81,134,810
Ensembl chr 1:81,128,857...81,134,812
|
|
G |
Dmbt1 |
deleted in malignant brain tumors 1 |
|
ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
|
NCBI chr 1:185,617,469...185,696,476
Ensembl chr 1:185,617,294...185,696,478
|
|
G |
Dmrtc2 |
DMRT-like family C2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,466,259...80,473,883
Ensembl chr 1:80,466,132...80,473,531
|
|
G |
Dyrk1b |
dual specificity tyrosine phosphorylation regulated kinase 1B |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,479,168...83,497,011
Ensembl chr 1:83,479,147...83,487,169
|
|
G |
Efnb1 |
ephrin B1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15166289 |
|
NCBI chr X:64,257,351...64,270,158
Ensembl chr X:64,257,351...64,270,157
|
|
G |
Egln2 |
egl-9 family hypoxia-inducible factor 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,451,554...82,459,809
Ensembl chr 1:82,451,555...82,459,751
|
|
G |
Eid2 |
EP300 interacting inhibitor of differentiation 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,538,274...83,539,599
|
|
G |
Eid2b |
EP300 interacting inhibitor of differentiation 2B |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,545,530...83,547,338
Ensembl chr 1:83,545,563...83,546,734
|
|
G |
Erf |
Ets2 repressor factor |
|
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 More...
|
|
NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
|
|
G |
Erich4 |
glutamate-rich 4 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,123,556...81,125,296
Ensembl chr 1:81,123,556...81,125,296
|
|
G |
Exosc5 |
exosome component 5 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,168,128...81,177,266
Ensembl chr 1:81,166,023...81,177,265
|
|
G |
Ezh2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26424790 |
|
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
|
|
G |
Fam24a |
family with sequence similarity 24, member A |
|
ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
|
NCBI chr 1:186,119,918...186,122,932
|
|
G |
Fam24b |
family with sequence similarity 24 member B |
|
ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
|
NCBI chr 1:186,112,544...186,115,957
Ensembl chr 1:186,112,551...186,115,899
|
|
G |
Fbl |
fibrillarin |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,469,832...83,478,932
Ensembl chr 1:83,469,832...83,478,932
|
|
G |
Fbn1 |
fibrillin 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis |
ClinVar |
PMID:25741868 PMID:31837199 |
|
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
|
|
G |
Fbn2 |
fibrillin 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976
|
|
G |
Fcgbp |
Fc gamma binding protein |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,374,979...83,413,082
Ensembl chr 1:83,372,127...83,413,083
|
|
G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
|
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...
|
RGD:11567263 |
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
|
|
G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO |
DNA:substitutions:multiple (human) 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: Brachycephaly | 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 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: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: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:30919572 PMID:31145570 PMID:31502745 PMID:31754721 PMID:32595695 PMID:33937142 PMID:35802133 PMID:36474027 PMID:36633841 PMID:270283566 PMID:19624690 PMID:14499350 PMID:19627528 PMID:8946174 More...
|
RGD:6480630, RGD:12801469, RGD:8547554, RGD:12801484 |
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
|
|
G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
ISO |
DNA:missense mutation:cds:p.P250R(human) ClinVar Annotator: match by term: Brachycephaly | 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:17552943 PMID:19215249 PMID:20301588 PMID:20301628 PMID:22016144 PMID:22622662 PMID:24728327 PMID:25271085 PMID:25741868 PMID:26740388 PMID:28492532 PMID:32238909 PMID:11467490 More...
|
RGD:11568028 |
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
|
|
G |
Flna |
filamin A |
|
ISO |
DNA:missense mutations:cds:multiple (human) |
RGD |
PMID:25873011 |
RGD:11531800 |
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
|
|
G |
Frem1 |
Fras1 related extracellular matrix 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Trigonocephaly |
CTD ClinVar |
|
|
NCBI chr 5:97,321,266...97,469,523
Ensembl chr 5:97,322,538...97,469,543
|
|
G |
Grik5 |
glutamate ionotropic receptor kainate type subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,605,878...80,667,896
Ensembl chr 1:80,605,892...80,667,125
|
|
G |
Gsk3a |
glycogen synthase kinase 3 alpha |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,815,843...80,825,732
Ensembl chr 1:80,815,850...80,825,802
|
|
G |
Hes7 |
hes family bHLH transcription factor 7 |
|
ISO |
ClinVar Annotator: match by term: Brachycephaly |
ClinVar |
PMID:25741868 |
|
NCBI chr10:53,824,124...53,828,934
Ensembl chr10:53,825,574...53,828,097
|
|
G |
Hipk4 |
homeodomain interacting protein kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,810,708...82,821,080
Ensembl chr 1:82,810,708...82,821,077
|
|
G |
Hnrnpul1 |
heterogeneous nuclear ribonucleoprotein U-like 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,228,404...81,264,121
Ensembl chr 1:81,228,404...81,262,592
|
|
G |
Htra1 |
HtrA serine peptidase 1 |
|
ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
|
NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379
|
|
G |
Ift122 |
intraflagellar transport 122 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20493458 |
|
NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458
|
|
G |
Ikzf5 |
IKAROS family zinc finger 5 |
|
ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
|
NCBI chr 1:186,169,108...186,188,847
Ensembl chr 1:186,170,788...186,188,834
|
|
G |
Itpkc |
inositol-trisphosphate 3-kinase C |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,500,957...82,522,533
Ensembl chr 1:82,500,957...82,522,779
|
|
G |
Kat6b |
lysine acetyltransferase 6B |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
|
|
NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
|
|
G |
Lgals5 |
galectin 5 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:63,853,949...63,857,198
Ensembl chr10:63,853,935...63,857,153
|
|
G |
Lipe |
lipase E, hormone sensitive type |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,965,612...80,984,313
Ensembl chr 1:80,965,627...80,984,310
|
|
G |
Ltbp4 |
latent transforming growth factor beta binding protein 4 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,600,136...82,634,346
Ensembl chr 1:82,600,136...82,632,178
|
|
G |
Lypd4 |
Ly6/Plaur domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,460,487...80,466,105
Ensembl chr 1:80,460,487...80,466,011
|
|
G |
Map3k10 |
mitogen activated protein kinase kinase kinase 10 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,955,784...82,974,084
Ensembl chr 1:82,955,207...82,974,084
|
|
G |
Megf8 |
multiple EGF-like-domains 8 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:23063620 PMID:25741868 PMID:28492532 PMID:28914635 PMID:29168297 |
|
NCBI chr 1:80,902,236...80,951,614
Ensembl chr 1:80,902,574...80,951,613
|
|
G |
Mia |
MIA SH3 domain containing |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,473,677...82,476,378
Ensembl chr 1:82,473,678...82,475,370
|
|
G |
Msx2 |
msh homeobox 2 |
|
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 chr17:11,097,214...11,102,879
Ensembl chr17:11,097,103...11,102,879
|
|
G |
Myh7 |
myosin heavy chain 7 |
|
ISO |
ClinVar Annotator: match by term: Lambdoid synostosis |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29892087 PMID:31737537 |
|
NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
|
|
G |
Nell1 |
neural EGFL like 1 |
|
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
|
|
G |
Nog |
noggin |
treatment |
ISO |
|
RGD |
PMID:19627528 |
RGD:8547554 |
NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
|
|
G |
Nsmce4a |
NSE4 homolog A, SMC5-SMC6 complex component |
|
ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
|
NCBI chr 1:185,102,075...185,109,166
Ensembl chr 1:185,094,360...185,109,166
|
|
G |
Numbl |
NUMB-like, endocytic adaptor protein |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,549,814...82,573,788
Ensembl chr 1:82,550,054...82,573,776
|
|
G |
Pafah1b3 |
platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,881,263...80,883,789
Ensembl chr 1:80,881,309...80,883,893
|
|
G |
Pld3 |
phospholipase D family, member 3 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,821,863...82,844,280
Ensembl chr 1:82,821,875...82,844,072
|
|
G |
Plekha1 |
pleckstrin homology domain containing A1 |
|
ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
|
NCBI chr 1:185,427,982...185,479,157
Ensembl chr 1:185,428,048...185,479,156
|
|
G |
Plekhg2 |
pleckstrin homology and RhoGEF domain containing G2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,651,902...83,665,063
Ensembl chr 1:83,647,748...83,665,063
|
|
G |
Pou2f2 |
POU class 2 homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,682,330...80,769,756
Ensembl chr 1:80,685,741...80,724,261
|
|
G |
Prr19 |
proline rich 19 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,884,529...80,890,712
Ensembl chr 1:80,887,151...80,890,168
|
|
G |
Prx |
periaxin |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407
|
|
G |
Psmc4 |
proteasome 26S subunit, ATPase 4 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,349,127...83,357,497
Ensembl chr 1:83,348,592...83,357,494
|
|
G |
Pstk |
phosphoseryl-tRNA kinase |
|
ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
|
NCBI chr 1:186,157,730...186,168,145
Ensembl chr 1:186,157,707...186,168,145
|
|
G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
|
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...
|
|
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
|
|
G |
Rab4b |
RAB4B, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,461,396...82,472,784
Ensembl chr 1:82,461,396...82,472,763
|
|
G |
Rabac1 |
Rab acceptor 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,564,029...80,567,164
Ensembl chr 1:80,564,033...80,567,163
|
|
G |
Rps16 |
ribosomal protein S16 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,643,066...83,646,056
Ensembl chr 1:83,643,130...83,646,206
|
|
G |
Rps19 |
ribosomal protein S19 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,480,718...80,486,511
Ensembl chr 1:80,480,951...80,486,508
|
|
G |
Selenov |
selenoprotein V |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,551,473...83,558,756
Ensembl chr 1:83,551,473...83,558,756
|
|
G |
Sertad1 |
SERTA domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,775,692...82,778,961
Ensembl chr 1:82,775,252...82,779,091
|
|
G |
Sertad3 |
SERTA domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,763,535...82,767,271
Ensembl chr 1:82,763,149...82,769,001
|
|
G |
Shkbp1 |
Sh3kbp1 binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,636,797...82,650,330
Ensembl chr 1:82,636,797...82,650,375
|
|
G |
Smad6 |
SMAD family member 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
|
|
G |
Snrpa |
small nuclear ribonucleoprotein polypeptide A |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,481,770...82,490,540
Ensembl chr 1:82,481,770...82,490,538
|
|
G |
Sptbn4 |
spectrin, beta, non-erythrocytic 4 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,650,750...82,738,345
Ensembl chr 1:82,650,751...82,737,228
|
|
G |
Supt5h |
SPT5 homolog, DSIF elongation factor subunit |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,586,713...83,616,971
Ensembl chr 1:83,586,718...83,616,892
|
|
G |
Tacc2 |
transforming, acidic coiled-coil containing protein 2 |
|
ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
|
NCBI chr 1:185,139,223...185,327,881
Ensembl chr 1:185,116,111...185,327,881
|
|
G |
Tcf12 |
transcription factor 12 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23354436 |
|
NCBI chr 8:72,490,447...72,799,265
Ensembl chr 8:72,492,567...72,799,201
|
|
G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
|
|
G |
Tgfbr1 |
transforming growth factor, beta receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis |
ClinVar |
PMID:25741868 PMID:31837199 |
|
NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
|
|
G |
Timm50 |
translocase of inner mitochondrial membrane 50 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,574,872...83,582,748
Ensembl chr 1:83,556,757...83,582,793
|
|
G |
Tmem145 |
transmembrane protein 145 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,891,888...80,901,615
Ensembl chr 1:80,891,927...80,901,611
|
|
G |
Tmem91 |
transmembrane protein 91 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,179,483...81,187,005
Ensembl chr 1:81,179,156...81,185,164
|
|
G |
Ttc9b |
tetratricopeptide repeat domain 9B |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,953,434...82,955,659
Ensembl chr 1:82,953,434...82,955,616
|
|
G |
Twist1 |
twist family bHLH transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 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: Lambdoid synostosis 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: FGFR2 related craniosynostosis CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
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...
|
|
NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
|
|
G |
Wdr11 |
WD repeat domain 11 |
|
ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:184,165,260...184,210,834
Ensembl chr 1:184,165,571...184,210,846
|
|
G |
Wdr35 |
WD repeat domain 35 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20817137 |
|
NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029
|
|
G |
Zfp11 |
zinc finger protein 11 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr12:27,028,067...27,040,846
Ensembl chr12:27,028,115...27,041,365
|
|
G |
Zfp526 |
zinc finger protein 526 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,807,791...80,817,852
Ensembl chr 1:80,806,972...80,818,180
|
|
G |
Zfp574 |
zinc finger protein 574 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,667,984...80,678,257
Ensembl chr 1:80,664,259...80,679,427
|
|
G |
Zic1 |
Zic family member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 8:91,908,548...91,918,020
Ensembl chr 8:91,908,576...91,912,731
|
|
G |
Znf780b |
zinc finger protein 780B |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,009,174...83,030,463
Ensembl chr 1:83,009,189...83,082,107
|
|
|
G |
Msx2 |
msh homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 2 | ClinVar Annotator: match by term: Warman-Mulliken-Hayward syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
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...
|
|
NCBI chr17:11,097,214...11,102,879
Ensembl chr17:11,097,103...11,102,879
|
|
|
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:17552943 PMID:19215249 PMID:20301588 PMID:20301628 PMID:22016144 PMID:22622662 PMID:24728327 PMID:25271085 PMID:25741868 PMID:26740388 PMID:28492532 PMID:32238909 More...
|
|
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
|
|
G |
Tcf12 |
transcription factor 12 |
|
ISO |
ClinVar Annotator: match by term: Coronal craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 3 |
OMIM ClinVar |
PMID:23354436 PMID:24736737 PMID:25271085 PMID:25741868 PMID:28492532 PMID:28808027 PMID:29215649 PMID:30038786 PMID:30858722 PMID:32620954 PMID:32629054 PMID:33461977 PMID:33547006 PMID:34906502 More...
|
|
NCBI chr 8:72,490,447...72,799,265
Ensembl chr 8:72,492,567...72,799,201
|
|
G |
Twist1 |
twist family bHLH transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Coronal craniosynostosis |
ClinVar |
|
|
NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
|
|
|
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...
|
|
NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
|
|
G |
Myh7 |
myosin heavy chain 7 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 4 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29892087 PMID:31737537 |
|
NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
|
|
|
G |
Alx4 |
ALX homeobox 4 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 5, susceptibility to |
ClinVar OMIM |
PMID:22829454 PMID:25741868 PMID:28492532 |
|
NCBI chr 3:79,611,682...79,648,260
Ensembl chr 3:79,611,719...79,648,260
|
|
|
G |
Zic1 |
Zic family member 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 6 |
OMIM ClinVar |
PMID:25741868 PMID:26340333 PMID:28492532 |
|
NCBI chr 8:91,908,548...91,918,020
Ensembl chr 8:91,908,576...91,912,731
|
|
|
G |
Bmp2 |
bone morphogenetic protein 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 7 |
ClinVar |
PMID:27606499 |
|
NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397
|
|
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...
|
|
NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
|
|
|
G |
Il11ra1 |
interleukin 11 receptor subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis and dental anomalies |
OMIM ClinVar |
PMID:21741611 PMID:25741868 PMID:32860008 PMID:34906502 |
|
NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408
|
|
|
G |
Adamtsl4 |
ADAMTS-like 4 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:20564469 PMID:25741868 PMID:28492532 PMID:28642162 PMID:31837199 |
|
NCBI chr 2:183,235,634...183,247,091
Ensembl chr 2:183,235,646...183,246,848
|
|
G |
Alg6 |
ALG6, alpha-1,3-glucosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:114,404,972...114,454,440
Ensembl chr 5:114,405,010...114,454,439
|
|
G |
Axin2 |
axin 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
|
|
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 |
|
NCBI chr13:29,493,554...29,715,151
Ensembl chr13:29,493,596...29,715,146
|
|
G |
Cnpy2 |
canopy FGF signaling regulator 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:748,877...754,352
Ensembl chr 7:749,008...755,519
|
|
G |
Ctnna1 |
catenin alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:31292255 |
|
NCBI chr18:26,728,246...26,860,911
Ensembl chr18:26,728,485...26,860,910
|
|
G |
Cyp26b1 |
cytochrome P450, family 26, subfamily b, polypeptide 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 PMID:31837199 |
|
NCBI chr 4:117,041,808...117,058,628
Ensembl chr 4:117,041,808...117,058,628
|
|
G |
Dhrs3 |
dehydrogenase/reductase 3 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:156,747,939...156,782,420
Ensembl chr 5:156,747,962...156,782,417
|
|
G |
Efcab7 |
EF-hand calcium binding domain 7 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:114,525,403...114,576,130
Ensembl chr 5:114,525,167...114,576,129
|
|
G |
Erf |
Ets2 repressor factor |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 PMID:31837199 |
|
NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
|
|
G |
Fbn1 |
fibrillin 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 PMID:31837199 |
|
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
|
|
G |
Fbn2 |
fibrillin 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976
|
|
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...
|
|
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
|
|
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:10851026 PMID:11781872 PMID:15316116 PMID:15523615 PMID:16158432 PMID:16418739 PMID:16838304 PMID:17264867 PMID:17803937 PMID:18541976 PMID:20133659 PMID:22558232 PMID:24127277 PMID:24728327 PMID:25271085 PMID:25425289 PMID:25741868 PMID:26325558 PMID:26429889 PMID:26467025 PMID:28492532 More...
|
|
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
|
|
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:17552943 PMID:17935505 PMID:18976668 PMID:19165726 PMID:19215249 PMID:20199409 PMID:20301588 PMID:20301628 PMID:21536014 PMID:22016144 PMID:22622662 PMID:23437153 PMID:24728327 PMID:25271085 PMID:25326635 PMID:25741868 PMID:26740388 PMID:28492532 PMID:32238909 More...
|
|
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
|
|
G |
Foxd3 |
forkhead box D3 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:114,335,084...114,337,450
Ensembl chr 5:114,335,408...114,336,817
|
|
G |
Gli2 |
GLI family zinc finger 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:31292255 |
|
NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574
|
|
G |
Gli3 |
GLI family zinc finger 3 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:21326280 PMID:22903559 PMID:24736735 PMID:25741868 |
|
NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
|
|
G |
Gpc4 |
glypican 4 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:31292255 |
|
NCBI chr X:131,644,711...131,755,349
Ensembl chr X:131,644,704...131,755,284
|
|
G |
Grin2b |
glutamate ionotropic receptor NMDA type subunit 2B |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
|
|
G |
Igf1r |
insulin-like growth factor 1 receptor |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 PMID:31837199 |
|
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
|
|
G |
Il11ra1 |
interleukin 11 receptor subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 PMID:31837199 |
|
NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408
|
|
G |
Itgb3bp |
integrin subunit beta 3 binding protein |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:114,460,217...114,525,538
Ensembl chr 5:114,460,221...114,525,704
|
|
G |
Kat6a |
lysine acetyltransferase 6A |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 PMID:30245513 PMID:31292255 |
|
NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606
|
|
G |
Man2b1 |
mannosidase, alpha, class 2B, member 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:23,055,092...23,074,398
Ensembl chr19:23,055,097...23,074,389
|
|
G |
Megf8 |
multiple EGF-like-domains 8 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:23063620 PMID:25741868 PMID:28914635 PMID:29168297 |
|
NCBI chr 1:80,902,236...80,951,614
Ensembl chr 1:80,902,574...80,951,613
|
|
G |
Msx1 |
msh homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31837199 |
|
NCBI chr14:72,961,036...72,964,970
Ensembl chr14:72,961,148...72,964,966
|
|
G |
Msx2 |
msh homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
|
|
NCBI chr17:11,097,214...11,102,879
Ensembl chr17:11,097,103...11,102,879
|
|
G |
Npr2 |
natriuretic peptide receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
|
|
NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
|
|
G |
Pgm1 |
phosphoglucomutase 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728
|
|
G |
Ptch1 |
patched 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31837199 More...
|
|
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
|
|
G |
Runx2 |
RUNX family transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167
|
|
G |
Sox11 |
SRY-box transcription factor 11 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:31292255 |
|
NCBI chr 6:44,008,333...44,010,354
Ensembl chr 6:44,008,340...44,010,354
|
|
G |
Specc1l |
sperm antigen with calponin homology and coiled-coil domains 1-like |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31837199 |
|
NCBI chr20:13,337,983...13,443,665
Ensembl chr20:13,339,692...13,443,665
|
|
G |
Tcf12 |
transcription factor 12 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:23354436 PMID:25741868 PMID:28492532 PMID:30038786 PMID:31837199 PMID:32620954 More...
|
|
NCBI chr 8:72,490,447...72,799,265
Ensembl chr 8:72,492,567...72,799,201
|
|
G |
Tfap2b |
transcription factor AP-2 beta |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:31292255 |
|
NCBI chr 9:21,786,251...21,816,054
Ensembl chr 9:21,786,258...21,814,520
|
|
G |
Tgfbr1 |
transforming growth factor, beta receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 PMID:31837199 |
|
NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
|
|
G |
Trps1 |
transcriptional repressor GATA binding 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
|
|
NCBI chr 7:81,916,668...82,142,733
Ensembl chr 7:81,921,601...82,141,905
|
|
G |
Wdr19 |
WD repeat domain 19 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31837199 |
|
NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
|
|
G |
Zfp462 |
zinc finger protein 462 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:28513610 |
|
NCBI chr 5:69,670,085...69,810,729
Ensembl chr 5:69,670,328...69,810,327
|
|
|
G |
Adamtsl4 |
ADAMTS-like 4 |
|
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...
|
|
NCBI chr 2:183,235,634...183,247,091
Ensembl chr 2:183,235,646...183,246,848
|
|
|
G |
Rnu12 |
RNA, U12 small nuclear |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CDAGS syndrome |
OMIM CTD ClinVar |
PMID:2400728 PMID:9733036 PMID:23602181 PMID:28217872 PMID:34085356 |
|
NCBI chr 7:114,303,546...114,303,696
Ensembl chr 7:114,303,546...114,303,696
|
|
|
G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO ISS |
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) DNA:missense mutations:cds:p.Y281C, p.G289P (human) DNA:missense mutations, silent mutation:cds:multiple (human) DNA:missense mutations:cds:multiple (human) CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD 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:10851026 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:17693524 PMID:18552176 PMID:18726952 PMID:19066959 PMID:19610084 PMID:20133659 PMID:20301628 PMID:20489451 PMID:20503384 PMID:20643727 PMID:20856019 PMID:21367659 PMID:21397175 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:24127277 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25157968 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:26619011 PMID:27028366 PMID:27079505 PMID:27228464 PMID:27430617 PMID:27481450 PMID:27683237 PMID:28492532 PMID:28611549 PMID:28901406 PMID:29037998 PMID:31145570 PMID:36474027 PMID:7987400 PMID:11380921 PMID:7874170 PMID:11711827 More...
|
RGD:155663659, RGD:12801472, RGD:12801470, RGD:12801466 |
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
|
|
G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
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:17552943 PMID:19215249 PMID:20301588 PMID:20301628 PMID:22016144 PMID:22622662 PMID:24728327 PMID:25271085 PMID:25741868 PMID:26740388 PMID:28492532 PMID:32238909 More...
|
|
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
|
|
G |
Tcof1 |
treacle ribosome biogenesis factor 1 |
|
ISO |
ClinVar Annotator: match by term: Crouzon syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr18:54,267,015...54,300,324
Ensembl chr18:54,267,026...54,300,324
|
|
|
G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Crouzon syndrome with acanthosis nigricans | ClinVar Annotator: match by term: Crouzon syndrome-acanthosis nigricans syndrome DNA:missense mutation:p.A391E(human) CTD Direct Evidence: marker/mechanism |
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:8589699 PMID:8640234 PMID:8673103 PMID:8723106 PMID:8841188 PMID:8858131 PMID:8880573 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9300656 PMID:9438390 PMID:9525367 PMID:9536098 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9677066 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 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:11879084 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15915095 PMID:16766665 PMID:16841094 PMID:17384684 PMID:17509076 PMID:17552943 PMID:17576681 PMID:17875876 PMID:17935505 PMID:18076102 PMID:18266238 PMID:18583390 PMID:18642369 PMID:18976668 PMID:19088846 PMID:19165726 PMID:19215249 PMID:19381019 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:22622662 PMID:23056398 PMID:23437153 PMID:24728327 PMID:25157968 PMID:25271085 PMID:25326635 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25809207 PMID:26619011 PMID:26740388 PMID:26818779 PMID:28230213 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29681095 PMID:29758562 PMID:30138938 PMID:30692697 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:33942288 PMID:36135330 PMID:36474027 PMID:7493034 More...
|
RGD:11568032 |
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
|
|
|
G |
Tsr2 |
TSR2, ribosome maturation factor |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis |
OMIM ClinVar |
PMID:11424144 PMID:24942156 PMID:25741868 PMID:28492532 |
|
NCBI chr X:20,064,102...20,072,673
Ensembl chr X:20,064,103...20,072,620
|
|
|
G |
Rps26 |
ribosomal protein S26 |
|
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...
|
|
NCBI chr 7:1,057,332...1,058,882
|
|
G |
Rps28 |
ribosomal protein S28 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis |
OMIM ClinVar |
PMID:24942156 PMID:25741868 |
|
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
|
|
G |
Tsr2 |
TSR2, ribosome maturation factor |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis |
ClinVar |
PMID:11424144 PMID:24942156 |
|
NCBI chr X:20,064,102...20,072,673
Ensembl chr X:20,064,103...20,072,620
|
|
|
G |
Myh3 |
myosin heavy chain 3 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 2A (Freeman-Sheldon) |
OMIM ClinVar |
PMID:16642020 PMID:18695058 PMID:19142688 PMID:25256237 PMID:25741868 PMID:28492532 PMID:30826400 PMID:34136434 More...
|
|
NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
|
|
|
G |
Nectin4 |
nectin cell adhesion molecule 4 |
|
ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia-syndactyly syndrome 1 |
OMIM ClinVar |
PMID:20691405 PMID:21346770 PMID:24577405 PMID:25529316 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr13:83,802,589...83,821,711
Ensembl chr13:83,803,184...83,821,709
|
|
|
G |
Ckap2l |
cytoskeleton associated protein 2-like |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Filippi syndrome |
OMIM CTD ClinVar |
PMID:8867657 PMID:15365457 PMID:18553552 PMID:25439729 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 3:116,497,186...116,524,302
Ensembl chr 3:116,498,022...116,524,366
|
|
|
G |
Hdlbp |
high density lipoprotein binding protein |
|
ISO |
ClinVar Annotator: match by term: Fine-Lubinsky syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:93,948,099...94,018,040
Ensembl chr 9:93,949,913...94,018,048
|
|
G |
Por |
cytochrome p450 oxidoreductase |
|
ISO |
ClinVar Annotator: match by term: Fine-Lubinsky syndrome |
ClinVar |
PMID:22162478 PMID:25741868 |
|
NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
|
|
G |
Slc39a13 |
solute carrier family 39 member 13 |
|
ISO |
ClinVar Annotator: match by term: Fine-Lubinsky syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:77,039,411...77,047,528
Ensembl chr 3:77,037,565...77,049,226
|
|
|
G |
Fras1 |
Fraser extracellular matrix complex subunit 1 |
|
ISS ISO |
ClinVar Annotator: match by term: Cryptophthalmos with other malformations CTD Direct Evidence: marker/mechanism |
MouseDO ClinVar CTD |
PMID:9536098 PMID:12766769 PMID:16199547 PMID:17163535 PMID:17576681 PMID:18671281 PMID:22029163 PMID:23532946 PMID:24476948 PMID:24700879 PMID:25741868 PMID:27884173 PMID:28492532 PMID:28844315 PMID:29261186 PMID:30639323 PMID:31308072 PMID:31738409 PMID:33726816 PMID:34246755 More...
|
|
NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726
|
|
G |
Frem1 |
Fras1 related extracellular matrix 1 |
|
ISS |
OMIM:219000 |
MouseDO |
|
|
NCBI chr 5:97,321,266...97,469,523
Ensembl chr 5:97,322,538...97,469,543
|
|
G |
Frem2 |
FRAS1 related extracellular matrix 2 |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cryptophthalmos with other malformations |
CTD ClinVar MouseDO |
PMID:17163535 PMID:18203166 PMID:25741868 PMID:26275891 PMID:26552811 PMID:28492532 More...
|
|
NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
|
|
G |
Grip1 |
glutamate receptor interacting protein 1 |
|
ISS |
OMIM:219000 |
MouseDO |
|
|
NCBI chr 7:54,934,856...55,592,274
Ensembl chr 7:54,934,250...55,592,273
|
|
|
G |
Fras1 |
Fraser extracellular matrix complex subunit 1 |
|
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:34906515 PMID:34974531 PMID:35005812 PMID:35595450 PMID:12766769 More...
|
RGD:1598960 |
NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726
|
|
G |
Frem2 |
FRAS1 related extracellular matrix 2 |
|
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...
|
|
NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
|
|
G |
Grip1 |
glutamate receptor interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 7:54,934,856...55,592,274
Ensembl chr 7:54,934,250...55,592,273
|
|
|
G |
Frem2 |
FRAS1 related extracellular matrix 2 |
|
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...
|
RGD:13464328, RGD:126781714 |
NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
|
|
G |
Frem2fpl |
Fras1 related extracellular matrix protein 2;fpl mutant |
|
IAGP |
|
RGD |
PMID:21756877 PMID:23336369 |
RGD:13464328, RGD:126781714 |
|
|
|
G |
Adamts14 |
ADAM metallopeptidase with thrombospondin type 1 motif, 14 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
|
|
NCBI chr20:29,143,029...29,219,846
Ensembl chr20:29,144,354...29,219,866
|
|
G |
Aipl1 |
aryl hydrocarbon receptor-interacting protein-like 1 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:24426771 PMID:28492532 |
|
NCBI chr10:56,655,693...56,664,922
Ensembl chr10:56,655,693...56,664,922
|
|
G |
Aspa |
aspartoacylase |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:57,891,704...57,945,267
Ensembl chr10:57,892,104...57,945,272
|
|
G |
Bclaf1 |
BCL2-associated transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
|
|
NCBI chr 1:15,088,436...15,117,666
Ensembl chr 1:15,070,894...15,148,832
|
|
G |
Borcs6 |
BLOC-1 related complex subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
|
|
NCBI chr10:53,760,504...53,762,358
Ensembl chr10:53,758,093...53,762,632
|
|
G |
Gnb5 |
G protein subunit beta 5 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
|
|
NCBI chr 8:76,076,120...76,105,069
Ensembl chr 8:76,073,306...76,105,069
|
|
G |
Grip1 |
glutamate receptor interacting protein 1 |
|
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...
|
|
NCBI chr 7:54,934,856...55,592,274
Ensembl chr 7:54,934,250...55,592,273
|
|
G |
Lsm10 |
LSM10, U7 small nuclear RNA associated |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
|
|
NCBI chr 5:138,365,983...138,375,856
Ensembl chr 5:138,373,119...138,377,505
|
|
G |
Med23 |
mediator complex subunit 23 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
|
|
NCBI chr 1:20,490,315...20,558,461
Ensembl chr 1:20,490,315...20,537,463
|
|
G |
Mpc1 |
mitochondrial pyruvate carrier 1 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
|
|
NCBI chr 1:52,437,745...52,449,399
Ensembl chr 1:52,437,741...52,449,400
|
|
G |
Myo18b |
myosin XVIIIb |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr12:43,747,003...43,953,694
Ensembl chr12:43,747,010...43,953,695
|
|
G |
Odad1 |
outer dynein arm docking complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:96,392,132...96,420,926
Ensembl chr 1:96,394,824...96,420,925
|
|
G |
Ptch1 |
patched 1 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
|
|
G |
Spata22 |
spermatogenesis associated 22 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:57,945,272...57,963,081
Ensembl chr10:57,932,187...57,963,081
|
|
G |
Tlcd3a |
TLC domain containing 3A |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
|
|
NCBI chr10:61,057,470...61,065,293
Ensembl chr10:61,058,042...61,065,283
|
|
G |
Wdr81 |
WD repeat domain 81 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
|
|
NCBI chr10:60,281,969...60,295,374
Ensembl chr10:60,281,972...60,295,296
|
|
G |
Zxda |
zinc finger, X-linked, duplicated A |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
|
|
NCBI chr X:59,760,871...59,766,010
Ensembl chr X:59,763,210...59,765,903
|
|
|
G |
Myh3 |
myosin heavy chain 3 |
|
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: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:30379605 PMID:30826400 PMID:31030430 PMID:32732226 PMID:34136434 PMID:35169139 More...
|
|
NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
|
|
|
G |
Alx4 |
ALX homeobox 4 |
|
ISO |
ClinVar Annotator: match by term: Frontonasal dysplasia 2 |
ClinVar OMIM |
PMID:19692347 PMID:22140057 PMID:24668755 PMID:25741868 PMID:28492532 |
|
NCBI chr 3:79,611,682...79,648,260
Ensembl chr 3:79,611,719...79,648,260
|
|
|
G |
Alg9 |
ALG9, alpha-1,2-mannosyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Gillessen-Kaesbach-Nishimura syndrome |
OMIM CTD ClinVar |
PMID:25741868 PMID:25966638 PMID:26467025 PMID:27391121 PMID:28492532 PMID:31395617 More...
|
|
NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261
|
|
|
G |
Foxi3 |
forkhead box I3 |
|
ISS ISO |
OMIM:164210 ClinVar Annotator: match by term: Craniofacial microsomia | ClinVar Annotator: match by term: Craniofacial microsomia 1 |
MouseDO ClinVar |
PMID:28492532 PMID:36260083 PMID:37041148 |
|
NCBI chr 4:102,933,487...102,937,655
Ensembl chr 4:102,933,409...102,937,655
|
|
G |
Frk |
fyn-related Src family tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Craniofacial microsomia 1 |
ClinVar |
|
|
NCBI chr20:38,265,416...38,371,038
Ensembl chr20:38,265,280...38,371,114
|
|
G |
Pax1 |
paired box 1 |
|
ISO |
ClinVar Annotator: match by term: Craniofacial microsomia |
ClinVar |
|
|
NCBI chr 3:134,792,330...134,801,637
Ensembl chr 3:134,789,182...134,801,636
|
|
G |
Sf3b2 |
splicing factor 3b, subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Craniofacial microsomia 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:7811205 PMID:25741868 PMID:34344887 |
|
NCBI chr 1:202,570,423...202,590,774
Ensembl chr 1:202,570,423...202,590,759
|
|
G |
Zic3 |
Zic family member 3 |
|
ISS |
OMIM:164210 |
MouseDO |
|
|
NCBI chr X:136,123,662...136,129,627
Ensembl chr X:136,124,026...136,134,746
|
|
G |
Zyg11b |
zyg-11 family member B, cell cycle regulator |
|
ISO |
ClinVar Annotator: match by term: Craniofacial microsomia 1 |
ClinVar |
PMID:25741868 PMID:32738032 |
|
NCBI chr 5:122,985,548...123,042,735
Ensembl chr 5:122,992,147...123,042,736
|
|
|
G |
Dap3 |
death associated protein 3 |
|
ISO |
ClinVar Annotator: match by term: Grange syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:174,319,341...174,347,489
Ensembl chr 2:174,318,983...174,346,461
|
|
|
G |
Cdk13 |
cyclin-dependent kinase 13 |
|
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...
|
|
NCBI chr17:47,251,145...47,344,675
Ensembl chr17:47,251,163...47,341,721
|
|
G |
Gli3 |
GLI family zinc finger 3 |
|
ISO ISS |
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 OMIM:175700 DNA:mutations:exon, intron:multiple DNA:nonsense mutations, missense mutations, splice-site mutations:exon, intron:multiple DNA:mutations: :multiple CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD 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:15739154 PMID:10441342 PMID:24736735 PMID:22903559 More...
|
RGD:12738222, RGD:12738208, RGD:12738205, RGD:12738141 |
NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
|
|
G |
Inhba |
inhibin subunit beta A |
|
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...
|
|
NCBI chr17:49,091,635...49,111,573
Ensembl chr17:49,095,920...49,108,982
|
|
G |
Mplkip |
M-phase specific PLK1 interacting protein |
|
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...
|
|
NCBI chr17:47,373,624...47,376,199
Ensembl chr17:47,373,845...47,376,204
|
|
G |
Rala |
RAS like proto-oncogene A |
|
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...
|
|
NCBI chr17:47,092,163...47,145,192
Ensembl chr17:47,092,207...47,144,063
|
|
G |
Sugct |
succinylCoA:glutarate-CoA transferase |
|
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...
|
|
NCBI chr17:47,376,392...48,234,362
Ensembl chr17:47,376,521...48,234,376
|
|
|
G |
Tbx4 |
T-box transcription factor 4 |
|
ISO |
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 More...
|
|
NCBI chr10:70,730,686...70,760,829
Ensembl chr10:70,731,163...70,760,825
|
|
|
G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
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...
|
|
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
|
|
G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndrome CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.R344G (human) |
OMIM ClinVar CTD 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:10851026 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:18552176 PMID:19066959 PMID:20301628 PMID:20489451 PMID:20856019 PMID:21367659 PMID:21397175 PMID:22238366 PMID:22664175 PMID:22665975 PMID:23002168 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:25271085 PMID:25706251 PMID:25741868 PMID:25759925 PMID:25867380 PMID:25937001 PMID:26362256 PMID:26380986 PMID:26467025 PMID:26619011 PMID:27079505 PMID:27481450 PMID:28492532 PMID:31145570 PMID:36474027 PMID:7874170 More...
|
RGD:12801470 |
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
|
|
|
G |
Fgf10 |
fibroblast growth factor 10 |
|
ISS ISO |
OMIM:149730 ClinVar Annotator: match by term: Levy-Hollister syndrome |
MouseDO ClinVar |
PMID:16630169 PMID:17213838 PMID:25741868 PMID:26955834 PMID:28492532 |
|
NCBI chr 2:50,801,171...50,878,218
Ensembl chr 2:50,800,992...50,876,866
|
|
G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
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:10851026 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:18552176 PMID:20301628 PMID:20489451 PMID:20856019 PMID:21367659 PMID:21397175 PMID:22238366 PMID:22664175 PMID:23002168 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:28492532 PMID:31145570 PMID:31502745 PMID:36474027 More...
|
|
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
|
|
G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
ISO |
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: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:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9677066 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11879084 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15915095 PMID:16766665 PMID:16841094 PMID:17384684 PMID:17509076 PMID:17552943 PMID:17875876 PMID:18076102 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19381019 PMID:19749790 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20420824 PMID:20453470 PMID:20624921 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22622662 PMID:23056398 PMID:24728327 PMID:25157968 PMID:25271085 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25809207 PMID:26619011 PMID:26740388 PMID:26818779 PMID:28230213 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29681095 PMID:29758562 PMID:30138938 PMID:30692697 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:33942288 PMID:36135330 PMID:36474027 More...
|
|
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
|
|
|
G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 2 |
OMIM ClinVar |
PMID:16501574 PMID:28483234 PMID:28492532 PMID:32715658 |
|
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
|
|
|
G |
Fgf10 |
fibroblast growth factor 10 |
|
ISO |
ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 3 |
OMIM ClinVar |
PMID:15654336 PMID:16501574 PMID:16630169 PMID:37077496 |
|
NCBI chr 2:50,801,171...50,878,218
Ensembl chr 2:50,800,992...50,876,866
|
|
|
G |
Fgf10 |
fibroblast growth factor 10 |
|
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 |
|
NCBI chr 2:50,801,171...50,878,218
Ensembl chr 2:50,800,992...50,876,866
|
|
G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
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:10851026 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:18552176 PMID:20301628 PMID:20489451 PMID:20856019 PMID:21367659 PMID:21397175 PMID:22238366 PMID:22664175 PMID:23002168 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:28492532 PMID:31145570 PMID:31502745 PMID:36474027 More...
|
|
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
|
|
G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
ISO |
ClinVar Annotator: match by term: LADD syndrome |
ClinVar |
PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 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:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9677066 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11879084 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15915095 PMID:16766665 PMID:16841094 PMID:17384684 PMID:17509076 PMID:17552943 PMID:17875876 PMID:18076102 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19381019 PMID:19749790 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20420824 PMID:20453470 PMID:20624921 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22622662 PMID:23056398 PMID:24728327 PMID:25157968 PMID:25271085 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25809207 PMID:26619011 PMID:26740388 PMID:26818779 PMID:28230213 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29681095 PMID:29758562 PMID:30138938 PMID:30692697 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:33942288 PMID:36135330 PMID:36474027 More...
|
|
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
|
|
|
G |
Abca3 |
ATP binding cassette subfamily A member 3 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome |
ClinVar |
PMID:17517255 PMID:19647838 PMID:24871971 PMID:28492532 PMID:33110422 |
|
NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745
|
|
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...
|
|
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
|
|
G |
Col5a1 |
collagen type V alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
|
|
G |
Col5a2 |
collagen type V alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome |
ClinVar |
|
|
NCBI chr 9:47,448,741...47,598,134
Ensembl chr 9:47,448,736...47,598,154
|
|
G |
Fbn1 |
fibrillin 1 |
|
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...
|
|
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
|
|
G |
Fbn2 |
fibrillin 2 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976
|
|
G |
Myh11 |
myosin heavy chain 11 |
|
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...
|
|
NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
|
|
G |
Mylk |
myosin light chain kinase |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
|
|
G |
Smad3 |
SMAD family member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism 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 |
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...
|
|
NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
|
|
G |
Tgfb2 |
transforming growth factor, beta 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: 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:31915033 PMID:32277047 PMID:32307099 PMID:33125268 PMID:33418956 PMID:34363016 PMID:35205249 More...
|
|
NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
|
|
G |
Tgfb3 |
transforming growth factor, beta 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism 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 |
CTD ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564
|
|
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 ClinVar MouseDO |
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: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:28492532 PMID:28550590 PMID:28655553 PMID:28659821 PMID:29192238 PMID:29510914 PMID:29706644 PMID:29907982 PMID:30219046 PMID:30701076 PMID:30739908 PMID:31279624 PMID:31624717 PMID:31915033 PMID:32339686 PMID:33436942 PMID:33824467 PMID:35092149 PMID:35830949 PMID:35903967 PMID:36237225 PMID:36584339 PMID:36937954 More...
|
|
NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
|
|
G |
Tgfbr2 |
transforming growth factor, beta receptor 2 |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A 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: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...
|
|
NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
|
|
G |
Twnk |
twinkle mtDNA helicase |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome |
ClinVar |
PMID:21681116 PMID:25741868 PMID:27551684 PMID:28492532 PMID:31455392 |
|
NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
|
|
|
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:33824467 PMID:34270679 PMID:35092149 PMID:36237225 PMID:36937954 More...
|
|
NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
|
|
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...
|
|
NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
|
|
|
G |
Fbn1 |
fibrillin 1 |
|
ISO |
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 Annotator: match by term: Aortic aneurysm, familial thoracic 3 | 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: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: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:28117189 PMID:28391405 PMID:28468757 PMID:28492532 PMID:28539832 PMID:28642162 PMID:28650953 PMID:28855619 PMID:28941062 PMID:28973303 PMID:29357934 PMID:29543232 PMID:29768367 PMID:29848614 PMID:29875124 PMID:29907982 PMID:30192042 PMID:30341550 PMID:30371227 PMID:30675029 PMID:30739908 PMID:30838813 PMID:31098894 PMID:31211624 PMID:31211626 PMID:31227806 PMID:31279624 PMID:31536524 PMID:31730815 PMID:31751304 PMID:31825148 PMID:31830381 PMID:31950671 PMID:32679894 PMID:32989268 PMID:33174221 PMID:33200202 PMID:33394117 PMID:33483584 PMID:33711475 PMID:33824467 PMID:33844962 PMID:34140103 PMID:34150014 PMID:34281902 PMID:34318135 PMID:34456093 PMID:34498425 PMID:34550612 PMID:35058154 PMID:35237611 PMID:35916808 PMID:37042257 PMID:37684520 More...
|
|
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
|
|
G |
Polg |
DNA polymerase gamma, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections |
ClinVar |
PMID:12565911 PMID:14694057 PMID:15917273 PMID:16621917 PMID:17502560 PMID:19752458 PMID:22537151 PMID:25741868 PMID:28492532 PMID:29302508 More...
|
|
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
|
|
G |
Tgfbr2 |
transforming growth factor, beta receptor 2 |
|
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: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections |
OMIM ClinVar |
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:15731757 PMID:16027248 PMID:16249459 PMID:16251899 PMID:16283890 PMID:16333834 PMID:16791849 PMID:16799921 PMID:16835936 PMID:16885183 PMID:16928994 PMID:17061023 PMID:17319955 PMID:17330129 PMID:17344846 PMID:17345643 PMID:17418587 PMID:17470566 PMID:17576681 PMID:17652900 PMID:17935258 PMID:18084123 PMID:18781618 PMID:18827873 PMID:18852674 PMID:19006214 PMID:19159394 PMID:19533785 PMID:19542084 PMID:19816028 PMID:19875893 PMID:19996017 PMID:20144264 PMID:20358619 PMID:20628007 PMID:20829218 PMID:20956634 PMID:21098638 PMID:21251594 PMID:21267002 PMID:21270064 PMID:21324918 PMID:21484991 PMID:21524434 PMID:22001912 PMID:22095581 PMID:22113417 PMID:22259224 PMID:22488992 PMID:22772368 PMID:23103230 PMID:23228659 PMID:23585368 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24199744 PMID:24220024 PMID:24792536 PMID:24793577 PMID:24941995 PMID:24983314 PMID:25116393 PMID:25203624 PMID:25326635 PMID:25326637 PMID:25637381 PMID:25644172 PMID:25741868 PMID:25786579 PMID:25944730 PMID:26017485 PMID:26133393 PMID:26848186 PMID:26877057 PMID:26948038 PMID:27100340 PMID:27112580 PMID:27139629 PMID:27508510 PMID:27611364 PMID:27854218 PMID:27879313 PMID:27930701 PMID:28162229 PMID:28182693 PMID:28225382 PMID:28344185 PMID:28492532 PMID:28659821 PMID:28679693 PMID:28991257 PMID:29168297 PMID:29339704 PMID:29543232 PMID:29907982 PMID:30056620 PMID:30158670 PMID:30222965 PMID:30341550 PMID:30675401 PMID:30701076 PMID:30739908 PMID:31098894 PMID:31769227 PMID:31915033 PMID:32420711 PMID:32528524 PMID:32887874 PMID:32897753 PMID:33083483 PMID:33391346 PMID:33726816 PMID:33824467 PMID:34008892 PMID:34498425 PMID:34572573 PMID:34958866 PMID:35535697 PMID:35727495 PMID:36103205 PMID:37090272 More...
|
|
NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
|
|
G |
Tmpo |
thymopoietin |
|
ISO |
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: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections |
ClinVar |
PMID:9536098 PMID:16247757 PMID:17576681 PMID:23861362 PMID:24033266 PMID:24375709 PMID:24448499 PMID:25741868 PMID:27662471 PMID:28074886 PMID:28166811 PMID:28492532 PMID:28798025 PMID:29247119 PMID:30327538 PMID:30975432 PMID:31983221 More...
|
|
NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727
|
|
|
G |
Smad3 |
SMAD family member 3 |
|
ISO |
ClinVar Annotator: match by term: LOEYS-DIETZ SYNDROME WITH OSTEOARTHRITIS | ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 1C |
OMIM ClinVar |
PMID:246998 PMID:576587 PMID:658878 PMID:825693 PMID:9536098 PMID:15350224 PMID:16828225 PMID:17576681 PMID:17725494 PMID:20301312 PMID:20851114 PMID:21217753 PMID:21778426 PMID:21815248 PMID:21835029 PMID:22167769 PMID:23554019 PMID:24033266 PMID:24711937 PMID:24804794 PMID:25555948 PMID:25644172 PMID:25741868 PMID:25877775 PMID:25907466 PMID:25944730 PMID:26221609 PMID:26333736 PMID:27724990 PMID:28185953 PMID:28492532 PMID:29392890 PMID:29510914 PMID:29543232 PMID:29717556 PMID:29907982 PMID:30661052 PMID:30739908 PMID:30787465 PMID:31085000 PMID:31096651 PMID:31329162 PMID:31915033 PMID:32154675 PMID:32597575 PMID:32897753 PMID:33059708 PMID:33125268 PMID:34122524 PMID:34434896 PMID:35031499 PMID:35874167 PMID:36495030 More...
|
|
NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
|
|
G |
Smad6 |
SMAD family member 6 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 |
ClinVar |
PMID:28492532 PMID:30796334 |
|
NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
|
|
|
G |
Aida |
axin interactor, dorsalization associated |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chr13:94,940,311...94,967,920
Ensembl chr13:94,939,741...94,967,920
|
|
G |
Bpnt1 |
3'(2'), 5'-bisphosphate nucleotidase 1 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chr13:96,865,634...96,893,506
Ensembl chr13:96,868,580...96,893,503
|
|
G |
Brox |
BRO1 domain and CAAX motif containing |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chr13:94,920,107...94,940,189
Ensembl chr13:94,920,112...94,940,227
|
|
G |
C13h1orf115 |
similar to human chromosome 1 open reading frame 115 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chr13:96,422,308...96,432,044
Ensembl chr13:96,422,302...96,432,068
|
|
G |
Disp1 |
dispatched RND transporter family member 1 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chr13:94,720,928...94,866,695
Ensembl chr13:94,720,928...94,866,702
|
|
G |
Dusp10 |
dual specificity phosphatase 10 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chr13:95,613,716...95,651,716
Ensembl chr13:95,614,292...95,651,716
|
|
G |
Eprs1 |
glutamyl-prolyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chr13:96,901,548...96,971,966
Ensembl chr13:96,901,575...96,971,966
|
|
G |
Esrrg |
estrogen-related receptor gamma |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chr13:99,167,656...99,788,016
Ensembl chr13:99,564,669...99,783,397
|
|
G |
Fam177b |
family with sequence similarity 177 member B |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chr13:94,904,128...94,909,688
|
|
G |
Gpatch2 |
G patch domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chr13:98,784,993...98,925,696
Ensembl chr13:98,784,969...98,925,661
|
|
G |
Hhipl2 |
HHIP like 2 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chr13:95,054,685...95,074,609
Ensembl chr13:95,054,694...95,074,608
|
|
G |
Hlx |
H2.0-like homeobox |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chr13:96,280,335...96,285,750
Ensembl chr13:96,280,339...96,285,750
|
|
G |
Iars2 |
isoleucyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chr13:96,831,484...96,865,518
Ensembl chr13:96,831,484...96,865,501
|
|
G |
Kcnk2 |
potassium two pore domain channel subfamily K member 2 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chr13:100,766,101...100,963,435
Ensembl chr13:100,766,113...100,963,435
|
|
G |
Kctd3 |
potassium channel tetramerization domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chr13:100,510,193...100,548,765
Ensembl chr13:100,510,195...100,548,718
|
|
G |
Lyplal1 |
lysophospholipase-like 1 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chr13:97,626,568...97,657,901
Ensembl chr13:97,626,451...97,657,867
|
|
G |
Mark1 |
microtubule affinity regulating kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chr13:96,450,189...96,555,304
Ensembl chr13:96,451,487...96,555,173
|
|
G |
Mia3 |
MIA SH3 domain ER export factor 3 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chr13:94,970,421...95,012,071
Ensembl chr13:94,970,424...95,011,972
|
|
G |
Mir194-1 |
microRNA 194-1 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chr13:96,851,166...96,851,248
Ensembl chr13:96,851,166...96,851,248
|
|
G |
Mtarc1 |
mitochondrial amidoxime reducing component 1 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chr13:96,324,377...96,362,677
Ensembl chr13:96,339,757...96,397,796
|
|
G |
Mtarc2 |
mitochondrial amidoxime reducing component 2 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chr13:96,362,810...96,397,284
|
|
G |
Rab3gap2 |
RAB3 GTPase activating non-catalytic protein subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478
|
|
G |
Rrp15 |
ribosomal RNA processing 15 homolog |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chr13:98,276,276...98,299,357
Ensembl chr13:98,276,134...98,299,370
|
|
G |
Slc30a10 |
solute carrier family 30, member 10 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chr13:96,998,143...97,048,076
Ensembl chr13:96,998,143...97,009,103
|
|
G |
Spata17 |
spermatogenesis associated 17 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chr13:98,605,986...98,784,855
Ensembl chr13:98,605,986...98,784,929
|
|
G |
Taf1a |
TATA-box binding protein associated factor, RNA polymerase I subunit A |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chr13:95,012,160...95,048,131
Ensembl chr13:95,029,225...95,048,087
|
|
G |
Tgfb2 |
transforming growth factor, beta 2 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
OMIM ClinVar |
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:24033266 PMID:24193348 PMID:24465802 PMID:24577266 PMID:25046559 PMID:25049390 PMID:25640679 PMID:25644172 PMID:25741868 PMID:26017485 PMID:26854089 PMID:27782106 PMID:28139901 PMID:28492532 PMID:28544325 PMID:28550590 PMID:28633253 PMID:28655553 PMID:29392890 PMID:29510914 PMID:29543232 PMID:29907982 PMID:30071990 PMID:30739908 PMID:31191903 PMID:31915033 PMID:32154675 PMID:32277047 PMID:32307099 PMID:32897753 PMID:33125268 PMID:33418956 PMID:34008892 PMID:34363016 PMID:35205249 More...
|
|
NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
|
|
G |
Tgfb3 |
transforming growth factor, beta 3 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:2618446 PMID:24798638 PMID:25835445 PMID:28425089 PMID:28492532 |
|
NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564
|
|
G |
Ush2a |
usherin |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922
|
|
|
G |
Esrrb |
estrogen-related receptor beta |
|
ISO |
ClinVar Annotator: match by term: Rienhoff syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:106,007,701...106,163,136
Ensembl chr 6:106,008,095...106,160,791
|
|
G |
Gpatch2l |
G patch domain containing 2-like |
|
ISO |
ClinVar Annotator: match by term: Rienhoff syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:105,883,383...105,935,644
Ensembl chr 6:105,883,460...105,934,888
|
|
G |
Ift43 |
intraflagellar transport 43 |
|
ISO |
ClinVar Annotator: match by term: Rienhoff syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:105,729,734...105,806,257
Ensembl chr 6:105,729,792...105,806,257
|
|
G |
Tgfb3 |
transforming growth factor, beta 3 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 5 | ClinVar Annotator: match by term: Rienhoff syndrome |
OMIM ClinVar |
PMID:1631557 PMID:2618446 PMID:7737999 PMID:9536098 PMID:9683588 PMID:12529708 PMID:15639475 PMID:16199547 PMID:17576681 PMID:22943793 PMID:23824657 PMID:23861362 PMID:24125834 PMID:24798638 PMID:25136781 PMID:25351510 PMID:25447171 PMID:25637381 PMID:25741868 PMID:25835445 PMID:26184463 PMID:26188975 PMID:27848944 PMID:28087566 PMID:28166282 PMID:28240702 PMID:28425089 PMID:28492532 PMID:28798025 PMID:29109152 PMID:29247119 PMID:29392890 PMID:29551499 PMID:29907982 PMID:30675029 PMID:31568572 PMID:31898322 PMID:32746448 PMID:32897753 PMID:34076677 PMID:34659991 PMID:35819174 PMID:35903967 PMID:35918752 PMID:36973604 More...
|
|
NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564
|
|
G |
Ttll5 |
tubulin tyrosine ligase like 5 |
|
ISO |
ClinVar Annotator: match by term: Rienhoff syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:105,483,091...105,700,920
Ensembl chr 6:105,483,191...105,700,934
|
|
|
G |
Smad2 |
SMAD family member 2 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 6 |
OMIM ClinVar |
PMID:15210694 PMID:25741868 PMID:26247899 PMID:28283438 PMID:28492532 PMID:29392890 PMID:29967133 PMID:30157302 PMID:34655614 More...
|
|
NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323
|
|
|
G |
Tgfbr2 |
transforming growth factor, beta receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1B |
ClinVar |
PMID:8246946 PMID:9395234 PMID:9536098 PMID:9590282 PMID:9771922 PMID:9927040 PMID:11212236 PMID:12202987 PMID:12821554 PMID:12825850 PMID:15235604 PMID:15731757 PMID:16027248 PMID:16249459 PMID:16251899 PMID:16283890 PMID:16791849 PMID:16799921 PMID:16835936 PMID:16885183 PMID:16928994 PMID:17061023 PMID:17319955 PMID:17330129 PMID:17344846 PMID:17345643 PMID:17418587 PMID:17470566 PMID:17576681 PMID:17652900 PMID:17935258 PMID:18084123 PMID:18781618 PMID:18827873 PMID:18852674 PMID:19006214 PMID:19159394 PMID:19533785 PMID:19542084 PMID:19875893 PMID:19996017 PMID:20144264 PMID:20628007 PMID:20829218 PMID:20956634 PMID:21098638 PMID:21251594 PMID:21267002 PMID:21270064 PMID:21324918 PMID:21484991 PMID:21524434 PMID:22001912 PMID:22095581 PMID:22113417 PMID:22259224 PMID:22488992 PMID:22772368 PMID:23103230 PMID:23228659 PMID:23585368 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24199744 PMID:24220024 PMID:24792536 PMID:24793577 PMID:24941995 PMID:24983314 PMID:25116393 PMID:25203624 PMID:25326637 PMID:25637381 PMID:25644172 PMID:25741868 PMID:25944730 PMID:26017485 PMID:26133393 PMID:26848186 PMID:26877057 PMID:26948038 PMID:27100340 PMID:27112580 PMID:27139629 PMID:27508510 PMID:27611364 PMID:27854218 PMID:27879313 PMID:27930701 PMID:28162229 PMID:28182693 PMID:28225382 PMID:28344185 PMID:28492532 PMID:28659821 PMID:28679693 PMID:28991257 PMID:29168297 PMID:29339704 PMID:29543232 PMID:29907982 PMID:30056620 PMID:30158670 PMID:30222965 PMID:30341550 PMID:30675401 PMID:30701076 PMID:30739908 PMID:31098894 PMID:31769227 PMID:31915033 PMID:32420711 PMID:32528524 PMID:32887874 PMID:32897753 PMID:33083483 PMID:33391346 PMID:33726816 PMID:33824467 PMID:34498425 PMID:34572573 PMID:34958866 PMID:35535697 PMID:35727495 PMID:36103205 PMID:37090272 More...
|
|
NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
|
|
G |
Tmpo |
thymopoietin |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1B |
ClinVar |
PMID:16247757 PMID:23861362 PMID:24033266 PMID:24375709 PMID:24448499 PMID:25741868 PMID:27662471 PMID:28074886 PMID:28492532 PMID:28798025 PMID:30327538 More...
|
|
NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727
|
|
|
G |
Eftud2 |
elongation factor Tu GTP binding domain containing 2 |
|
ISO |
DNA:mutations:multiple (human) |
RGD |
PMID:23188108 |
RGD:10045556 |
NCBI chr10:87,804,893...87,852,181
Ensembl chr10:87,804,892...87,846,079
|
|
G |
Polr1b |
RNA polymerase I subunit B |
|
ISO |
ClinVar Annotator: match by term: Treacher Collins-Franceschetti syndrome |
ClinVar |
PMID:25741868 PMID:31649276 |
|
NCBI chr 3:116,333,910...116,358,385
Ensembl chr 3:116,333,889...116,358,379
|
|
G |
Polr1c |
RNA polymerase I and III subunit C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21131976 |
|
NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
|
|
G |
Polr1d |
RNA polymerase I and III subunit D |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21131976 |
|
NCBI chr12:7,970,592...8,004,157
Ensembl chr12:7,970,595...8,005,624
|
|
G |
Tcof1 |
treacle ribosome biogenesis factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16938878 |
|
NCBI chr18:54,267,015...54,300,324
Ensembl chr18:54,267,026...54,300,324
|
|
|
G |
Ednra |
endothelin receptor type A |
|
ISO ISS |
OMIM:616367 ClinVar Annotator: match by term: Mandibulofacial dysostosis with alopecia |
OMIM MouseDO ClinVar |
PMID:16116593 PMID:20583178 PMID:25741868 PMID:25772936 PMID:28492532 |
|
NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
|
|
|
G |
Abca4 |
ATP binding cassette subfamily A member 4 |
|
ISO |
ClinVar Annotator: match by term: MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL RETARDATION |
ClinVar |
PMID:9973280 PMID:10396622 PMID:11017087 PMID:11527935 PMID:11726554 PMID:15579991 PMID:16682602 PMID:18854780 PMID:19074458 PMID:23419329 PMID:25283059 PMID:25741868 PMID:28041643 PMID:28492532 PMID:28559085 PMID:30718709 PMID:33546218 PMID:35413457 PMID:36909829 More...
|
|
NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
|
|
|
G |
Eftud2 |
elongation factor Tu GTP binding domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: EFTUD2-related condition | ClinVar Annotator: match by term: Mandibulofacial dysostosis-microcephaly syndrome DNA:mutations:multiple (human) |
OMIM ClinVar RGD |
PMID:9536098 PMID:16199547 PMID:16760738 PMID:17576681 PMID:19334086 PMID:22305528 PMID:22541558 PMID:23188108 PMID:24470203 PMID:24999515 PMID:25326635 PMID:25326637 PMID:25387991 PMID:25741868 PMID:26507355 PMID:28492532 PMID:28708303 PMID:32333448 PMID:32410215 PMID:32799722 PMID:33247512 PMID:36135330 PMID:37673932 PMID:22305528 More...
|
RGD:10045557 |
NCBI chr10:87,804,893...87,852,181
Ensembl chr10:87,804,892...87,846,079
|
|
|
G |
Bhlha9 |
basic helix-loop-helix family, member a9 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Mesoaxial synostotic syndactyly with phalangeal reduction |
OMIM CTD ClinVar |
PMID:9783716 PMID:15039974 PMID:25466284 PMID:25741868 PMID:28492532 |
|
NCBI chr10:61,513,609...61,514,730
Ensembl chr10:61,513,609...61,514,301
|
|
|
G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
ISO ISS |
ClinVar Annotator: match by term: Muenke syndrome | ClinVar Annotator: match by term: Syndrome of coronal craniosynostosis OMIM:602849 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 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:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9677066 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11879084 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15915095 PMID:16766665 PMID:16841094 PMID:17384684 PMID:17509076 PMID:17552943 PMID:17875876 PMID:18076102 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19381019 PMID:19749790 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20420824 PMID:20453470 PMID:20624921 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22622662 PMID:23056398 PMID:24728327 PMID:25157968 PMID:25271085 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25809207 PMID:26619011 PMID:26740388 PMID:26818779 PMID:28230213 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29681095 PMID:29758562 PMID:30138938 PMID:30692697 PMID:31218223 PMID:31299979 PMID:31976144 PMID:31994750 PMID:32238909 PMID:32502767 PMID:33942288 PMID:36135330 PMID:36373817 PMID:36474027 More...
|
|
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
|
|
|
G |
Fgf9 |
fibroblast growth factor 9 |
|
ISS |
OMIM:186500 | OMIM:610017 | OMIM:612961 |
MouseDO |
|
|
NCBI chr15:32,208,993...32,254,952
Ensembl chr15:32,210,074...32,253,309
|
|
G |
Gdf5 |
growth differentiation factor 5 |
|
ISS |
OMIM:186500 | OMIM:610017 | OMIM:612961 |
MouseDO |
|
|
NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612
|
|
|
G |
Fgf9 |
fibroblast growth factor 9 |
|
ISO |
ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:32,208,993...32,254,952
Ensembl chr15:32,210,074...32,253,309
|
|
G |
Gdf5 |
growth differentiation factor 5 |
|
ISO |
ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome DNA:missense mutation:cds:p.R438L(1313G>T)(human) |
ClinVar RGD |
PMID:16532400 |
RGD:12738199 |
NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612
|
|
G |
Nog |
noggin |
|
ISO |
ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome DNA:mutation:cds:1426G>C (P.W205C)(Human) |
ClinVar OMIM RGD |
PMID:3667255 PMID:6638061 PMID:10080184 PMID:11846737 PMID:15770128 PMID:16532400 PMID:17609215 PMID:20503332 PMID:25741868 PMID:30311386 PMID:10080184 PMID:16151340 More...
|
RGD:1600234, RGD:12801467 |
NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
|
|
|
G |
Gdf5 |
growth differentiation factor 5 |
|
ISO |
ClinVar Annotator: match by term: Multiple synostoses syndrome 2 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9024575 PMID:9288091 PMID:16127465 PMID:16532400 PMID:17384641 PMID:18203755 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612
|
|
|
G |
Fgf9 |
fibroblast growth factor 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Multiple synostoses syndrome 3 |
OMIM CTD ClinVar |
PMID:19589401 PMID:25741868 PMID:28492532 PMID:28730625 PMID:36980996 |
|
NCBI chr15:32,208,993...32,254,952
Ensembl chr15:32,210,074...32,253,309
|
|
|
G |
Gdf6 |
growth differentiation factor 6 |
|
ISO |
ClinVar Annotator: match by term: Multiple synostoses syndrome 4 |
OMIM ClinVar |
PMID:25741868 PMID:26643732 PMID:29130651 |
|
NCBI chr 5:22,996,246...23,012,567
Ensembl chr 5:22,996,246...23,012,567
|
|
|
G |
Sf3b4 |
splicing factor 3B subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Nager syndrome CTD Direct Evidence: marker/mechanism DNA:mutations:exon:multiple (human) DNA:mutations, haploinsufficiency:exon:multiple (human) |
OMIM ClinVar CTD RGD |
PMID:22541558 PMID:23568615 PMID:24003905 PMID:25741868 PMID:27622494 PMID:28492532 PMID:23568615 PMID:22541558 More...
|
RGD:155804295, RGD:11062353 |
NCBI chr 2:183,732,791...183,737,545
Ensembl chr 2:183,732,754...183,737,959
|
|
|
G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Trigonocephaly, nonsyndromic |
ClinVar |
|
|
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
|
|
G |
Frem1 |
Fras1 related extracellular matrix 1 |
|
ISO |
DNA:deletion, duplication,missense mutation:cds: DNA:mutations:cds: |
RGD |
PMID:21931569 PMID:21931569 |
RGD:11554186, RGD:11554186 |
NCBI chr 5:97,321,266...97,469,523
Ensembl chr 5:97,322,538...97,469,543
|
|
|
G |
Specc1l |
sperm antigen with calponin homology and coiled-coil domains 1-like |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Oblique facial clefts | ClinVar Annotator: match by term: Oculomaxillofacial dysostosis |
OMIM CTD ClinVar |
PMID:21703590 PMID:25741868 PMID:28492532 |
|
NCBI chr20:13,337,983...13,443,665
Ensembl chr20:13,339,692...13,443,665
|
|
|
G |
Gja1 |
gap junction protein, alpha 1 |
|
ISO ISS |
DNA:missense mutation:cds:p.P59H (human) ClinVar Annotator: match by term: Oculodentodigital dysplasia OMIM:164200 | OMIM:257850 CTD Direct Evidence: marker/mechanism DNA:mutation:cd:p.G138R(mouse) DNA:missense mutation: :p.H194P (human) DNA:missense mutations, duplication:multiple (human) DNA:missense mutation:cds:p.G60S (mouse) |
ClinVar MouseDO CTD OMIM RGD |
PMID:220941 PMID:1057461 PMID:2309863 PMID:4209752 PMID:7815444 PMID:10331943 PMID:11470490 PMID:12457340 PMID:14729836 PMID:15108203 PMID:15192806 PMID:15551259 PMID:15637728 PMID:15879313 PMID:16155213 PMID:16211004 PMID:16378922 PMID:16709485 PMID:17256797 PMID:17420259 PMID:17509830 PMID:17687502 PMID:17901047 PMID:18003637 PMID:18077386 PMID:18079109 PMID:18660473 PMID:18946008 PMID:19057520 PMID:19338053 PMID:19638688 PMID:19725242 PMID:21215473 PMID:21670345 PMID:22090377 PMID:22179534 PMID:23103513 PMID:23304551 PMID:23465283 PMID:23550541 PMID:24115525 PMID:25327171 PMID:25388818 PMID:25741868 PMID:27226478 PMID:28492532 PMID:30628995 PMID:32318302 PMID:33080786 PMID:34630166 PMID:35023121 PMID:16219735 PMID:18003637 PMID:15637728 PMID:12457340 PMID:16155213 More...
|
RGD:1578474, RGD:12910132, RGD:8662400, RGD:8662375, RGD:8662372 |
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
|
|
|
G |
Gja1 |
gap junction protein, alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2309863 PMID:11146471 PMID:11470490 PMID:12457340 PMID:14729836 PMID:14974090 PMID:14981729 PMID:15108203 PMID:15192806 PMID:15757815 PMID:15879313 PMID:16378922 PMID:16709485 PMID:16813608 PMID:16816024 PMID:17509830 PMID:17901047 PMID:18003637 PMID:18077386 PMID:18079109 PMID:18660473 PMID:18946008 PMID:19057520 PMID:19338053 PMID:19615768 PMID:19638688 PMID:20130915 PMID:21215473 PMID:21670345 PMID:22090377 PMID:22179534 PMID:22826718 PMID:23103513 PMID:23304551 PMID:23465283 PMID:23606748 PMID:23951358 PMID:24115525 PMID:24508941 PMID:25327171 PMID:25388818 PMID:25398053 PMID:25741868 PMID:26004348 PMID:26537360 PMID:27216975 PMID:27226478 PMID:28258662 PMID:28492532 PMID:29927410 PMID:30628963 PMID:30628995 PMID:30631135 PMID:30653986 PMID:30811667 PMID:31347275 PMID:32318302 PMID:32449269 PMID:33080786 PMID:34630166 PMID:35023121 More...
|
|
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
|
|
G |
Tbc1d32 |
TBC1 domain family, member 32 |
|
ISO |
ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive |
ClinVar |
PMID:28492532 |
|
NCBI chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415
|
|
|
G |
Nectin1 |
nectin cell adhesion molecule 1 |
|
ISO |
ClinVar Annotator: match by term: Orofacial cleft 7 |
ClinVar |
PMID:10932188 PMID:11559849 |
|
NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
|
|
|
G |
Lmbr1 |
limb development membrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME | ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome |
OMIM ClinVar |
PMID:8012392 PMID:10937618 PMID:12837695 PMID:17152067 PMID:17300748 PMID:18178630 PMID:18417549 PMID:18463159 PMID:19519794 PMID:20569257 PMID:22340503 PMID:24777739 PMID:25741868 PMID:28492532 PMID:29651423 PMID:32169219 PMID:38233525 More...
|
|
NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368
|
|
G |
Ptch1 |
patched 1 |
|
ISO |
ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME |
ClinVar |
PMID:12204003 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
|
|
G |
Rnf32 |
ring finger protein 32 |
|
ISO |
ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome |
ClinVar |
PMID:18178630 |
|
NCBI chr 4:6,144,749...6,209,320
Ensembl chr 4:6,149,841...6,209,257
|
|
G |
Shh |
sonic hedgehog signaling molecule |
|
ISO |
DNA:duplication:enhancer |
RGD |
PMID:18417549 |
RGD:12801418 |
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
|
|
|
G |
Nedd4l |
NEDD4 like E3 ubiquitin protein ligase |
|
ISO |
ClinVar Annotator: match by term: NEDD4L-related condition | ClinVar Annotator: match by term: Periventricular nodular heterotopia 7 | ClinVar Annotator: match by term: Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay |
OMIM ClinVar |
PMID:25741868 PMID:27694961 PMID:28492532 PMID:28515470 PMID:32117442 PMID:32238909 PMID:36474027 More...
|
|
NCBI chr18:58,393,759...58,726,709
Ensembl chr18:58,393,509...58,723,137
|
|
|
G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
|
ISO ISS |
ClinVar Annotator: match by term: Acrocephalosyndactyly, type 5 | ClinVar Annotator: match by term: Pfeiffer syndrome | ClinVar Annotator: match by term: Pfeiffer syndrome type 1 OMIM:101600 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:1456217 PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 PMID:11173846 PMID:12627230 PMID:14513299 PMID:14564217 PMID:14613973 PMID:15605412 PMID:15793702 PMID:16199547 PMID:16757108 PMID:16764984 PMID:16957473 PMID:17154279 PMID:18034870 PMID:18160472 PMID:18985070 PMID:20536592 PMID:20696889 PMID:23329143 PMID:23643382 PMID:23657145 PMID:23812909 PMID:24031091 PMID:24127277 PMID:24497711 PMID:25064402 PMID:25251565 PMID:25383892 PMID:25425165 PMID:25741868 PMID:25759380 PMID:26467025 PMID:26931467 PMID:26942290 PMID:28492532 PMID:28754744 PMID:31748124 PMID:31837199 PMID:33983622 More...
|
|
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
|
|
G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO ISS |
ClinVar Annotator: match by term: Acrocephalosyndactyly, type 5 | ClinVar Annotator: match by term: Pfeiffer syndrome OMIM:101600 CTD Direct Evidence: marker/mechanism DNA:mutations:CDS:multiple (human) DNA:SNPs, missense mutation:splice junction, CDS:multiple (human) |
OMIM ClinVar MouseDO CTD RGD |
PMID:7581378 PMID:7607643 PMID:7655462 PMID:7668257 PMID:7719329 PMID:7719333 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:9150725 PMID:9169049 PMID:9385368 PMID:9462761 PMID:9475591 PMID:9531645 PMID:9536098 PMID:9586546 PMID:9605588 PMID:9677057 PMID:9700203 PMID:9714439 PMID:9719378 PMID:10076886 PMID:10076887 PMID:10394936 PMID:10406670 PMID:10541159 PMID:10633130 PMID:10851026 PMID:10874645 PMID:10945669 PMID:11121055 PMID:11325814 PMID:11390973 PMID:11556600 PMID:11781872 PMID:11807866 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12400058 PMID:12884424 PMID:12884434 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15282208 PMID:15286168 PMID:15316116 PMID:15389579 PMID:15523615 PMID:15975938 PMID:15996217 PMID:16061565 PMID:16158432 PMID:16199547 PMID:16418739 PMID:16440883 PMID:16531735 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17525745 PMID:17576681 PMID:17803937 PMID:18541976 PMID:18552176 PMID:18618990 PMID:19066959 PMID:20133659 PMID:20301628 PMID:20489451 PMID:20503384 PMID:20643727 PMID:20856019 PMID:21367659 PMID:21397175 PMID:22238366 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:24016645 PMID:24036790 PMID:24127277 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25157968 PMID:25271085 PMID:25361936 PMID:25706251 PMID:25741868 PMID:25759925 PMID:25759927 PMID:25867380 PMID:25937001 PMID:26289989 PMID:26362256 PMID:26380986 PMID:26467025 PMID:26619011 PMID:27028366 PMID:27079505 PMID:27228464 PMID:27481450 PMID:27683237 PMID:27803855 PMID:28492532 PMID:31145570 PMID:31754721 PMID:36474027 PMID:33074973 PMID:7795583 More...
|
RGD:155782906, RGD:155663661 |
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
|
|
|
G |
Irf6 |
interferon regulatory factor 6 |
|
ISO ISS |
ClinVar Annotator: match by term: Faciogenitopopliteal syndrome | ClinVar Annotator: match by term: Popliteal pterygium syndrome OMIM:119500 | OMIM:263650 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:12219090 PMID:14757865 PMID:15558496 PMID:16096995 PMID:16160700 PMID:17551329 PMID:18209213 PMID:18478600 PMID:18617879 PMID:19036739 PMID:19282774 PMID:19734457 PMID:20803643 PMID:21045959 PMID:22440537 PMID:22488974 PMID:23949966 PMID:24936515 PMID:25547932 PMID:25548624 PMID:25691407 PMID:25741868 PMID:28492532 PMID:29453417 More...
|
|
NCBI chr13:104,672,179...104,691,386
Ensembl chr13:104,672,179...104,691,386
|
|
G |
Ripk4 |
receptor-interacting serine-threonine kinase 4 |
|
ISO ISS |
ClinVar Annotator: match by term: Popliteal pterygium syndrome OMIM:119500 | OMIM:263650 |
ClinVar MouseDO |
|
|
NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799
|
|
|
G |
Dhodh |
dihydroorotate dehydrogenase (quinone) |
|
ISO |
ClinVar Annotator: match by term: Miller syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:19915526 PMID:20220176 PMID:21346561 PMID:22692683 PMID:22967083 PMID:24033266 PMID:25741868 PMID:28492532 PMID:33262786 More...
|
|
NCBI chr19:37,551,858...37,573,327
Ensembl chr19:37,558,177...37,591,654
|
|
|
G |
Hoxa11 |
homeobox A11 |
|
ISO |
|
RGD |
PMID:11101832 |
RGD:11353968 |
NCBI chr 4:81,342,527...81,346,189
Ensembl chr 4:81,342,528...81,346,232
|
|
G |
Mecom |
MDS1 and EVI1 complex locus |
|
ISO |
ClinVar Annotator: match by term: Radioulnar synostosis |
ClinVar |
|
|
NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590
|
|
G |
Smad6 |
SMAD family member 6 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Radioulnar synostosis | ClinVar Annotator: match by term: Radioulnar synostosis, nonsyndromic, susceptibility to |
ClinVar OMIM |
PMID:25741868 PMID:27606499 PMID:28492532 PMID:28808027 PMID:28991257 PMID:30796334 PMID:30848080 PMID:31138930 PMID:32748548 PMID:34953066 More...
|
|
NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
|
|
|
G |
Hoxa11 |
homeobox A11 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: THROMBOCYTOPENIA, CONGENITAL, WITH RADIOULNAR SYNOSTOSIS |
CTD ClinVar |
PMID:24239177 PMID:25741868 |
|
NCBI chr 4:81,342,527...81,346,189
Ensembl chr 4:81,342,528...81,346,232
|
|
|
G |
Hoxa11 |
homeobox A11 |
|
ISO |
ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 |
OMIM ClinVar |
PMID:11101832 PMID:25741868 |
|
NCBI chr 4:81,342,527...81,346,189
Ensembl chr 4:81,342,528...81,346,232
|
|
|
G |
Cav1 |
caveolin 1 |
|
ISO |
ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 |
ClinVar |
PMID:25741868 PMID:38177409 |
|
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
|
|
G |
Mecom |
MDS1 and EVI1 complex locus |
|
ISO |
ClinVar Annotator: match by term: MECOM-related condition | ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:20091385 PMID:25741868 PMID:26581901 PMID:28492532 PMID:29146883 PMID:29519864 PMID:34355501 More...
|
|
NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590
|
|
|
G |
Twist1 |
twist family bHLH transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Acrocephalosyndactyly, Robinow-Sorauf type | ClinVar Annotator: match by term: Robinow-Sorauf syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1240778 PMID:10465122 PMID:10749989 PMID:12791045 PMID:19952666 PMID:24127277 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
|
|
|
G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Chotzen syndrome | ClinVar Annotator: match by term: Saethre-Chotzen syndrome |
OMIM ClinVar |
PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8651276 PMID:8696350 PMID:8957519 PMID:9002682 PMID:9462761 PMID:9585583 PMID:9677057 PMID:9700203 PMID:9719378 PMID:10851026 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:17525745 PMID:18552176 PMID:20301628 PMID:20489451 PMID:20856019 PMID:21367659 PMID:21397175 PMID:22238366 PMID:22664175 PMID:23002168 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:25425289 PMID:25706251 PMID:25741868 PMID:25867380 PMID:25937001 PMID:26325558 PMID:26380986 PMID:26429889 PMID:26467025 PMID:26619011 PMID:27079505 PMID:28492532 PMID:31145570 PMID:36474027 More...
|
|
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
|
|
G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Saethre-Chotzen syndrome |
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:17552943 PMID:19215249 PMID:20301588 PMID:20301628 PMID:22016144 PMID:22622662 PMID:24728327 PMID:25271085 PMID:25741868 PMID:26740388 PMID:28492532 PMID:32238909 More...
|
|
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
|
|
G |
Twist1 |
twist family bHLH transcription factor 1 |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ACS III | ClinVar Annotator: match by term: Chotzen syndrome | ClinVar Annotator: match by term: Saethre-Chotzen syndrome OMIM:101400 | OMIM:180750 |
CTD ClinVar MouseDO OMIM |
PMID:1240778 PMID:8968762 PMID:8988166 PMID:8988167 PMID:9259286 PMID:9585583 PMID:9792856 PMID:9934984 PMID:10094188 PMID:10649491 PMID:10749989 PMID:11248247 PMID:11474656 PMID:11748846 PMID:11754069 PMID:11854168 PMID:11977182 PMID:11992718 PMID:12116251 PMID:12791045 PMID:14513358 PMID:15099347 PMID:15923834 PMID:16251895 PMID:16838304 PMID:17651129 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:22995991 PMID:23527594 PMID:24127277 PMID:25271085 PMID:25741868 PMID:25741869 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...
|
|
NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
|
|
|
G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO |
ClinVar Annotator: match by term: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND IMPAIRED INTELLECTUAL DEVELOPMENT CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8651276 PMID:8696350 PMID:8957519 PMID:9002682 PMID:9169049 PMID:9462761 PMID:9677057 PMID:9700203 PMID:9719378 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:16061565 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: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:28492532 PMID:31145570 PMID:36474027 More...
|
|
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
|
|
|
G |
Lrp4 |
LDL receptor related protein 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593
|
|
G |
Sost |
sclerostin |
|
ISO |
DNA:transition: :69C>T (human) ClinVar Annotator: match by term: CORTICAL HYPEROSTOSIS WITH SYNDACTYLY CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:25741868 PMID:28492532 PMID:11179006 |
RGD:68858 |
NCBI chr10:86,912,517...86,915,561
Ensembl chr10:86,911,517...86,915,561
|
|
|
G |
Sost |
sclerostin |
|
ISO ISS |
ClinVar Annotator: match by term: SOST-related condition | ClinVar Annotator: match by term: Sclerosteosis 1 OMIM:269500 |
OMIM ClinVar MouseDO |
PMID:11179006 PMID:11181578 PMID:19072561 PMID:21221996 PMID:25741868 PMID:25984533 PMID:28492532 More...
|
|
NCBI chr10:86,912,517...86,915,561
Ensembl chr10:86,911,517...86,915,561
|
|
|
G |
Lrp4 |
LDL receptor related protein 4 |
|
ISO ISS |
OMIM:614305 ClinVar Annotator: match by term: Sclerosteosis 2 |
OMIM MouseDO ClinVar |
PMID:7891385 PMID:11385236 PMID:21471202 PMID:24234652 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593
|
|
|
G |
Acap3 |
ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:166,501,150...166,515,477
Ensembl chr 5:166,500,781...166,515,481
|
|
G |
Actrt2 |
actin-related protein T2 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:165,236,092...165,237,492
Ensembl chr 5:165,236,086...165,237,629
|
|
G |
Agrn |
agrin |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,749,306...166,782,212
Ensembl chr 5:166,749,310...166,786,003
|
|
G |
Ankrd65 |
ankyrin repeat domain 65 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:166,398,359...166,400,616
Ensembl chr 5:166,397,748...166,400,953
|
|
G |
Arhgef16 |
Rho guanine nucleotide exchange factor 16 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:164,843,656...164,866,212
Ensembl chr 5:164,844,161...164,866,212
|
|
G |
Atad3a |
ATPase family, AAA domain containing 3A |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482
|
|
G |
B3galt6 |
Beta-1,3-galactosyltransferase 6 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338
|
|
G |
C1qtnf12 |
C1q and TNF related 12 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:166,551,628...166,556,003
Ensembl chr 5:166,551,628...166,556,003
|
|
G |
C5h1orf159 |
similar to human chromosome 1 open reading frame 159 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,701,485...166,719,939
Ensembl chr 5:166,701,676...166,719,955
|
|
G |
Ccdc27 |
coiled-coil domain containing 27 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:164,585,285...164,599,391
Ensembl chr 5:164,585,267...164,599,355
|
|
G |
Ccnl2 |
cyclin L2 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:166,416,940...166,428,997
Ensembl chr 5:166,417,508...166,436,882
|
|
G |
Cdk11b |
cyclin-dependent kinase 11B |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:166,212,761...166,238,883
Ensembl chr 5:166,212,829...166,238,876
|
|
G |
Cep104 |
centrosomal protein 104 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:164,534,773...164,567,260
Ensembl chr 5:164,534,782...164,567,248
|
|
G |
Cfap74 |
cilia and flagella associated protein 74 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:165,970,611...166,046,068
Ensembl chr 5:165,979,805...166,046,071
|
|
G |
Cptp |
ceramide-1-phosphate transfer protein |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:166,474,947...166,479,103
Ensembl chr 5:166,474,966...166,479,017
|
|
G |
Dvl1 |
dishevelled segment polarity protein 1 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664
|
|
G |
Faap20 |
FA core complex associated protein 20 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:165,808,370...165,815,291
Ensembl chr 5:165,808,657...165,815,333
|
|
G |
Fndc10 |
fibronectin type III domain containing 10 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:166,299,587...166,311,477
Ensembl chr 5:166,300,122...166,310,326
|
|
G |
Gabrd |
gamma-aminobutyric acid type A receptor subunit delta |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:165,958,508...165,970,407
Ensembl chr 5:165,958,484...165,970,411
|
|
G |
Gnb1 |
G protein subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
|
|
G |
Hes5 |
hes family bHLH transcription factor 5 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:165,522,138...165,523,684
Ensembl chr 5:165,522,234...165,523,001
|
|
G |
Ints11 |
integrator complex subunit 11 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:166,479,134...166,497,956
Ensembl chr 5:166,479,155...166,497,651
|
|
G |
Kifbp |
kinesin family binding protein |
|
ISO |
ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:15883926 PMID:18414213 PMID:23427148 PMID:24072599 PMID:24901346 PMID:25741868 PMID:26467025 PMID:28277559 PMID:28492532 PMID:32939943 PMID:39033378 More...
|
|
NCBI chr20:30,512,899...30,532,504
Ensembl chr20:30,512,901...30,532,476
|
|
G |
Lrrc47 |
leucine rich repeat containing 47 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:164,570,539...164,580,174
Ensembl chr 5:164,570,435...164,580,174
|
|
G |
Megf6 |
multiple EGF-like-domains 6 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:164,738,272...164,839,142
Ensembl chr 5:164,738,352...164,839,139
|
|
G |
Mib2 |
MIB E3 ubiquitin protein ligase 2 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:166,243,776...166,259,944
Ensembl chr 5:166,243,776...166,259,650
|
|
G |
Mir200a |
microRNA 200a |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,648,494...166,648,582
|
|
G |
Mir200b |
microRNA 200b |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366
|
|
G |
Mir429 |
microRNA 429 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,647,459...166,647,543
Ensembl chr 5:166,647,459...166,647,543
|
|
G |
Mmel1 |
membrane metallo-endopeptidase-like 1 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:165,431,278...165,461,716
Ensembl chr 5:165,431,343...165,461,716
|
|
G |
Mmp23 |
matrix metallopeptidase 23 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:166,239,643...166,242,734
Ensembl chr 5:166,239,644...166,242,433
|
|
G |
Morn1 |
MORN repeat containing 1 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:165,646,817...165,704,892
Ensembl chr 5:165,646,991...165,704,892
|
|
G |
Mrpl20 |
mitochondrial ribosomal protein L20 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:166,408,962...166,413,492
Ensembl chr 5:166,408,962...166,413,492
|
|
G |
Mxra8 |
matrix remodeling associated 8 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:166,448,919...166,453,645
Ensembl chr 5:166,449,154...166,453,636
|
|
G |
Nadk |
NAD kinase |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:166,145,708...166,176,328
Ensembl chr 5:166,145,481...166,176,322
|
|
G |
Nek9 |
NIMA-related kinase 9 |
|
ISO |
ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:104,944,056...104,984,538
Ensembl chr 6:104,944,056...104,984,538
|
|
G |
Pank4 |
pantothenate kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:165,525,340...165,542,139
Ensembl chr 5:165,525,402...165,542,135
|
|
G |
Pex10 |
peroxisomal biogenesis factor 10 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965
|
|
G |
Plch2 |
phospholipase C, eta 2 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:165,544,209...165,613,769
Ensembl chr 5:165,544,200...165,602,356
|
|
G |
Prdm16 |
PR/SET domain 16 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601
|
|
G |
Prkcz |
protein kinase C, zeta |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367
|
|
G |
Prxl2b |
peroxiredoxin like 2B |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:165,462,610...165,465,213
|
|
G |
Pusl1 |
pseudouridine synthase like 1 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:166,497,643...166,500,647
Ensembl chr 5:166,496,755...166,500,611
|
|
G |
Rer1 |
retention in endoplasmic reticulum sorting receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:165,634,567...165,646,643
Ensembl chr 5:165,634,300...165,646,750
|
|
G |
Rnf223 |
ring finger protein 223 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,723,346...166,726,236
Ensembl chr 5:166,724,984...166,725,751
|
|
G |
Sdf4 |
stromal cell derived factor 4 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:166,586,581...166,606,661
Ensembl chr 5:166,586,390...166,604,521
|
|
G |
Ski |
Ski proto-oncogene |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:7977351 PMID:8449506 PMID:8981946 PMID:9536098 PMID:15979919 PMID:16199547 PMID:16327884 PMID:17576681 PMID:19112531 PMID:19114989 PMID:21699693 PMID:23023332 PMID:23103230 PMID:23892090 PMID:24033266 PMID:24357594 PMID:24736733 PMID:25326635 PMID:25326637 PMID:25741868 PMID:27146836 PMID:28252636 PMID:28492532 PMID:28667723 PMID:28750028 PMID:28757364 PMID:28857439 PMID:29168297 PMID:29543232 PMID:31322791 PMID:31602316 PMID:31754721 PMID:31980905 PMID:32123317 PMID:33416497 PMID:33436942 PMID:33824467 PMID:38177409 More...
|
|
NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733
|
|
G |
Slc35e2b |
solute carrier family 35, member E2B |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:166,185,166...166,211,055
Ensembl chr 5:166,185,166...166,207,021
|
|
G |
Smim1 |
small integral membrane protein 1 (Vel blood group) |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:164,579,327...164,584,650
|
|
G |
Ssu72 |
SSU72 homolog, RNA polymerase II CTD phosphatase |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:166,312,267...166,343,432
Ensembl chr 5:166,313,650...166,343,429
|
|
G |
Tas1r3 |
taste 1 receptor member 3 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:166,468,703...166,472,759
Ensembl chr 5:166,469,589...166,472,742
|
|
G |
Tmem240 |
transmembrane protein 240 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:166,344,000...166,350,210
Ensembl chr 5:166,344,386...166,350,636
|
|
G |
Tmem52 |
transmembrane protein 52 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:166,048,669...166,050,423
Ensembl chr 5:166,046,565...166,050,433
|
|
G |
Tmem88b |
transmembrane protein 88B |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:166,391,080...166,393,904
Ensembl chr 5:166,391,080...166,393,904
|
|
G |
Tnfrsf14 |
TNF receptor superfamily member 14 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:165,486,069...165,494,421
Ensembl chr 5:165,484,262...165,493,703
|
|
G |
Tnfrsf18 |
TNF receptor superfamily member 18 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353
|
|
G |
Tnfrsf4 |
TNF receptor superfamily member 4 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599
|
|
G |
Tp73 |
tumor protein p73 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
|
|
G |
Tprg1l |
tumor protein p63 regulated 1-like |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:164,722,151...164,725,358
Ensembl chr 5:164,710,285...164,725,425
|
|
G |
Ttc34 |
tetratricopeptide repeat domain 34 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:165,411,063...165,428,864
Ensembl chr 5:165,411,058...165,428,857
|
|
G |
Ttll10 |
tubulin tyrosine ligase like 10 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,630,147...166,644,114
Ensembl chr 5:166,630,152...166,653,707
|
|
G |
Ube2j2 |
ubiquitin-conjugating enzyme E2, J2 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:166,533,374...166,547,811
Ensembl chr 5:166,533,418...166,547,804
|
|
G |
Vwa1 |
von Willebrand factor A domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:166,377,451...166,382,784
Ensembl chr 5:166,377,455...166,382,637
|
|
G |
Wrap73 |
WD repeat containing, antisense to TP73 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:164,706,112...164,721,645
Ensembl chr 5:164,706,163...164,721,643
|
|
|
G |
Flnb |
filamin B |
|
ISO ISS |
OMIM:272460 ClinVar Annotator: match by term: Scoliosis, congenital with unilateral unsegmented bar | ClinVar Annotator: match by term: Spondylocarpotarsal synostosis syndrome CTD Direct Evidence: marker/mechanism |
OMIM MouseDO ClinVar CTD RGD |
PMID:14991055 PMID:18257094 PMID:18322662 PMID:18386804 PMID:20301736 PMID:25741868 PMID:26380986 PMID:28492532 PMID:29566257 PMID:17635842 More...
|
RGD:12791028 |
NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006
|
|
G |
Myh3 |
myosin heavy chain 3 |
|
ISO |
ClinVar Annotator: match by term: Scoliosis, congenital with unilateral unsegmented bar | ClinVar Annotator: match by term: Spondylocarpotarsal synostosis syndrome |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29805041 PMID:32902138 PMID:33726816 PMID:34204301 PMID:34440395 PMID:35169139 More...
|
|
NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
|
|
|
G |
Ankfn1 |
ankyrin-repeat and fibronectin type III domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Stapes ankylosis with broad thumbs and toes |
ClinVar |
|
|
NCBI chr10:74,214,143...74,602,825
Ensembl chr10:74,218,915...74,663,295
|
|
G |
Nog |
noggin |
|
ISO |
ClinVar Annotator: match by term: Stapes ankylosis with broad thumbs and toes |
OMIM ClinVar |
PMID:9851982 PMID:10069712 PMID:10080184 PMID:11160400 PMID:11545688 PMID:11857750 PMID:12089654 PMID:17668388 PMID:18440889 PMID:25741868 PMID:26474326 PMID:28492532 PMID:38177409 More...
|
|
NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
|
|
|
G |
Zic1 |
Zic family member 1 |
|
ISO |
ClinVar Annotator: match by term: Structural brain anomalies with impaired intellectual development and craniosynostosis |
OMIM ClinVar |
PMID:26340333 PMID:30391508 |
|
NCBI chr 8:91,908,548...91,918,020
Ensembl chr 8:91,908,576...91,912,731
|
|
|
G |
Aggf1 |
angiogenic factor with G patch and FHA domains 1 |
|
ISO |
ClinVar Annotator: match by term: Non-syndromic syndactyly |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:26,619,336...26,646,050
Ensembl chr 2:26,619,339...26,645,952
|
|
G |
Cdh20 |
cadherin 20 |
|
ISO |
ClinVar Annotator: match by term: Non-syndromic syndactyly |
ClinVar |
PMID:25741868 |
|
NCBI chr13:20,737,640...21,069,746
Ensembl chr13:20,738,081...21,068,676
|
|
G |
Cibar1 |
CBY1 interacting BAR domain containing 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30395363 |
|
NCBI chr 5:25,613,993...25,632,440
Ensembl chr 5:25,614,033...25,632,489
|
|
G |
Csnk2b |
casein kinase 2 beta |
|
ISO |
ClinVar Annotator: match by term: Syndactyly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33644862 PMID:34041744 |
|
NCBI chr20:3,700,363...3,705,331
Ensembl chr20:3,698,733...3,707,133
|
|
G |
Dll3 |
delta like canonical Notch ligand 3 |
|
ISO |
ClinVar Annotator: match by term: Syndactyly |
ClinVar |
PMID:15717203 PMID:17041936 PMID:18485326 PMID:25741868 PMID:28492532 PMID:29459493 More...
|
|
NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750
|
|
G |
Fbn2 |
fibrillin 2 |
|
ISO |
|
RGD |
PMID:11285249 |
RGD:1300320 |
NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976
|
|
G |
Fzd4 |
frizzled class receptor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17103440 |
|
NCBI chr 1:143,279,934...143,288,799
Ensembl chr 1:143,280,065...143,285,724
|
|
G |
Gdf5 |
growth differentiation factor 5 |
|
ISO |
DNA:insertion:cds: |
RGD |
PMID:18984342 |
RGD:12738203 |
NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612
|
|
G |
Gja1 |
gap junction protein, alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Syndactyly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
|
|
G |
Gli3 |
GLI family zinc finger 3 |
|
ISO |
DNA:missense mutation:exon:p.H601R (c.1802A>G) (human) ClinVar Annotator: match by term: polysyndactyly |
ClinVar RGD |
PMID:25267529 |
RGD:12738225 |
NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
|
|
G |
Hoxd13 |
homeo box D13 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
|
|
G |
Irf6 |
interferon regulatory factor 6 |
|
ISO |
popliteal pterygium syndrome, OMIM:119500 |
RGD |
PMID:12219090 |
RGD:1600214 |
NCBI chr13:104,672,179...104,691,386
Ensembl chr13:104,672,179...104,691,386
|
|
G |
Jag2 |
jagged canonical Notch ligand 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9531541 |
|
NCBI chr 6:131,983,059...132,005,665
Ensembl chr 6:131,983,056...132,005,818
|
|
G |
Lrp2 |
LDL receptor related protein 2 |
|
ISO |
ClinVar Annotator: match by term: Non-syndromic syndactyly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
|
|
G |
Lrp4 |
LDL receptor related protein 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16207730 |
|
NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593
|
|
G |
Nedd4l |
NEDD4 like E3 ubiquitin protein ligase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27694961 |
|
NCBI chr18:58,393,759...58,726,709
Ensembl chr18:58,393,509...58,723,137
|
|
G |
Plekhg2 |
pleckstrin homology and RhoGEF domain containing G2 |
|
ISO |
ClinVar Annotator: match by term: Syndactyly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:83,651,902...83,665,063
Ensembl chr 1:83,647,748...83,665,063
|
|
G |
Rab19 |
RAB19, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Non-syndromic syndactyly |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:68,157,159...68,166,889
Ensembl chr 4:68,156,881...68,166,886
|
|
|
G |
Ihh |
Indian hedgehog signaling molecule |
|
ISO |
DNA:duplications |
RGD |
PMID:21167467 |
RGD:12910956 |
NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532
|
|
G |
Nhej1 |
nonhomologous end-joining factor 1 |
|
ISO |
ClinVar Annotator: match by term: Syndactyly type 1 |
ClinVar |
|
|
NCBI chr 9:76,526,322...76,622,488
Ensembl chr 9:76,526,324...76,622,444
|
|
|
G |
Gja1 |
gap junction protein, alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Syndactyly type 3 |
OMIM CTD ClinVar |
PMID:2157843 PMID:11470490 PMID:14729836 PMID:15192806 PMID:18079109 PMID:21215473 PMID:22090377 PMID:22179534 PMID:23103513 PMID:23304551 PMID:23465283 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
|
|
|
G |
Lmbr1 |
limb development membrane protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Syndactyly type 4 |
OMIM CTD ClinVar |
PMID:1849351 PMID:18417549 PMID:19847792 |
|
NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368
|
|
G |
Shh |
sonic hedgehog signaling molecule |
|
ISO |
DNA:duplication:enhancer |
RGD |
PMID:18417549 |
RGD:12801418 |
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
|
|
|
G |
Gja1 |
gap junction protein, alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Syndactyly type 5 |
ClinVar |
|
|
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
|
|
G |
Hoxd13 |
homeo box D13 |
|
ISO |
ClinVar Annotator: match by term: Syndactyly type 5 | ClinVar Annotator: match by term: Syndactyly, type V DNA:missense mutation:exon:p.Q317R (c.950A>G) CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:215242 PMID:9207113 PMID:15333588 PMID:16222680 PMID:17236141 PMID:24239177 PMID:25741868 PMID:28492532 PMID:17236141 More...
|
RGD:12738470 |
NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
|
|
|
G |
Fgf16 |
fibroblast growth factor 16 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Syndactyly type 8 |
OMIM CTD ClinVar |
PMID:23709756 PMID:24878828 |
|
NCBI chr X:70,816,658...70,828,028
Ensembl chr X:70,817,433...70,878,717
|
|
|
G |
Ccnq |
cyclin Q |
|
ISO |
ClinVar Annotator: match by term: Syndactyly-telecanthus-anogenital and renal malformations syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8818947 PMID:18297069 PMID:25741868 PMID:36474027 |
|
NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961
|
|
G |
Star |
steroidogenic acute regulatory protein |
|
ISO |
ClinVar Annotator: match by term: Syndactyly-telecanthus-anogenital and renal malformations syndrome |
ClinVar |
PMID:8948562 PMID:16968793 PMID:18729825 PMID:21647419 PMID:23920000 PMID:25741868 PMID:26467025 PMID:26523528 PMID:28467518 PMID:28492532 More...
|
|
NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672
|
|
|
G |
Hoxd13 |
homeo box D13 |
|
ISS ISO |
OMIM:186000 | OMIM:608180 | OMIM:610234 ClinVar Annotator: match by term: Synpolydactyly |
MouseDO ClinVar |
PMID:22233338 PMID:25741868 |
|
NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
|
|
|
G |
Chst11 |
carbohydrate sulfotransferase 11 |
|
ISO |
ClinVar Annotator: match by term: Synpolydactyly type 1 |
ClinVar |
PMID:29514872 |
|
NCBI chr 7:20,524,535...20,743,008
Ensembl chr 7:20,528,100...20,743,111
|
|
G |
Evx2 |
even-skipped homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Synpolydactyly type 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:59,558,197...59,562,267
Ensembl chr 3:59,558,197...59,561,872
|
|
G |
Hoxd13 |
homeo box D13 |
severity |
ISO |
DNA:duplication:CDS ClinVar Annotator: match by term: Synpolydactyly type 1 CTD Direct Evidence: marker/mechanism DNA:nonsense mutation:exon:p.R186X (c.556C¿¿¿>¿¿¿T) (human) DNA:insertion:exon DNA:missense mutation:exon:p.R298Q (c.893G>A) (human) DNA:missense mutation:exon:p.I314L (940A>C) (human) DNA:splice-site mutation:intron:c.781+1G>A (human) DNA:nonsense mutation:exon:p.Q248X (c.742C>T) (human) DNA:missense mutation:exon:p.G220A (c.659G>C) (human) |
ClinVar OMIM CTD RGD |
PMID:215242 PMID:7666393 PMID:8620844 PMID:8817328 PMID:9207113 PMID:9758628 PMID:12414828 PMID:12900906 PMID:14698619 PMID:15333588 PMID:15917204 PMID:16222680 PMID:18399101 PMID:19060004 PMID:21814222 PMID:22233338 PMID:22373878 PMID:22374128 PMID:23948678 PMID:24055421 PMID:24239177 PMID:24789103 PMID:25741868 PMID:28492532 PMID:30408610 PMID:8817328 PMID:27254532 PMID:9207113 PMID:22374128 PMID:12620993 PMID:24055421 PMID:21814222 PMID:11543619 PMID:15952114 PMID:23948678 More...
|
RGD:1599534, RGD:12743595, RGD:12743592, RGD:11098998, RGD:12738399, RGD:11098055, RGD:11098032, RGD:12738377, RGD:12738375, RGD:11098288 |
NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
|
|
|
G |
Fbln1 |
fibulin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES |
OMIM CTD ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 7:116,310,582...116,390,075
Ensembl chr 7:116,310,582...116,390,075
|
|
|
G |
Nog |
noggin |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Tarsal-carpal coalition syndrome DNA:missense mutation:cds:c.682T>G (p.C228G)(human) |
OMIM CTD ClinVar RGD |
PMID:4019538 PMID:7557985 PMID:10080184 PMID:11545688 PMID:17245852 PMID:17668388 PMID:25741868 PMID:28492532 PMID:29159868 PMID:26211601 More...
|
RGD:12801450 |
NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
|
|
|
G |
Cacna1c |
calcium voltage-gated channel subunit alpha1 C |
|
ISO ISS |
DNA:missense mutations:exon:p.G406R, p.G402S (human) ClinVar Annotator: match by term: CACNA1C-related disorder | ClinVar Annotator: match by term: Timothy syndrome | ClinVar Annotator: match by term: Timothy syndrome type 1 OMIM:601005 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:9536098 PMID:10343407 PMID:12166659 PMID:15454078 PMID:15863612 PMID:16199547 PMID:16360093 PMID:17224476 PMID:17576681 PMID:18250309 PMID:19074970 PMID:19225208 PMID:20031608 PMID:20543828 PMID:20817017 PMID:21307850 PMID:21685391 PMID:21878566 PMID:21910241 PMID:22020278 PMID:22106044 PMID:22581653 PMID:22584458 PMID:22840528 PMID:22990809 PMID:23313911 PMID:23414114 PMID:23575362 PMID:23578275 PMID:23580742 PMID:23631430 PMID:23678275 PMID:23690510 PMID:23861362 PMID:24033266 PMID:24183960 PMID:24439875 PMID:24690944 PMID:24728418 PMID:24981977 PMID:25184293 PMID:25260352 PMID:25333069 PMID:25341504 PMID:25447171 PMID:25500949 PMID:25633834 PMID:25661095 PMID:25691416 PMID:25741868 PMID:26159999 PMID:26227324 PMID:26230511 PMID:26253506 PMID:26383259 PMID:26386135 PMID:26498160 PMID:26637798 PMID:26822303 PMID:27218670 PMID:27231019 PMID:27502440 PMID:27593853 PMID:27662471 PMID:27711072 PMID:27868338 PMID:27920829 PMID:27925203 PMID:27930701 PMID:28211989 PMID:28341588 PMID:28371864 PMID:28492532 PMID:28518168 PMID:28600387 PMID:28616568 PMID:28704380 PMID:28750076 PMID:29046645 PMID:29071820 PMID:29247119 PMID:29568937 PMID:29915097 PMID:30023270 PMID:30025578 PMID:30172029 PMID:30279520 PMID:30345660 PMID:30513141 PMID:30662450 PMID:30847666 PMID:30984024 PMID:31004778 PMID:31110529 PMID:31293105 PMID:31408100 PMID:31430211 PMID:31453089 PMID:31539150 PMID:31737537 PMID:32145446 PMID:32161207 PMID:32461654 PMID:32625235 PMID:33488405 PMID:34163037 PMID:34222376 PMID:36474027 PMID:15863612 More...
|
RGD:1580173 |
NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648
|
|
|
G |
Polr1b |
RNA polymerase I subunit B |
|
ISO |
ClinVar Annotator: match by term: Treacher Collins syndrome |
ClinVar |
PMID:25741868 PMID:31649276 |
|
NCBI chr 3:116,333,910...116,358,385
Ensembl chr 3:116,333,889...116,358,379
|
|
G |
Polr1d |
RNA polymerase I and III subunit D |
|
ISO |
ClinVar Annotator: match by term: Treacher Collins syndrome |
ClinVar |
PMID:24603435 |
|
NCBI chr12:7,970,592...8,004,157
Ensembl chr12:7,970,595...8,005,624
|
|
G |
Tcof1 |
treacle ribosome biogenesis factor 1 |
|
ISO ISS |
ClinVar Annotator: match by term: Treacher Collins Syndrome, Dominant | ClinVar Annotator: match by term: Treacher Collins syndrome OMIM:154500 | OMIM:248390 | OMIM:613717 |
ClinVar MouseDO RGD |
PMID:8894686 PMID:22317976 PMID:25741868 PMID:28492532 PMID:9096354 |
RGD:1599379 |
NCBI chr18:54,267,015...54,300,324
Ensembl chr18:54,267,026...54,300,324
|
|
|
G |
Tcof1 |
treacle ribosome biogenesis factor 1 |
|
ISO |
ClinVar Annotator: match by term: TCOF1-related condition | ClinVar Annotator: match by term: Treacher Collins syndrome 1 |
OMIM ClinVar |
PMID:8563749 PMID:8894686 PMID:9042910 PMID:9096354 PMID:9536098 PMID:9736782 PMID:9811939 PMID:10982400 PMID:11013442 PMID:12114482 PMID:12444270 PMID:14598341 PMID:15150774 PMID:15214011 PMID:15340364 PMID:16199547 PMID:17576681 PMID:19050407 PMID:20003452 PMID:20301704 PMID:21951868 PMID:22317976 PMID:23967202 PMID:24108658 PMID:24994558 PMID:25741868 PMID:25790162 PMID:26467025 PMID:28065470 PMID:28419064 PMID:28492532 PMID:29230583 PMID:30311386 PMID:31307516 PMID:32257192 PMID:33332773 More...
|
|
NCBI chr18:54,267,015...54,300,324
Ensembl chr18:54,267,026...54,300,324
|
|
|
G |
Polr1d |
RNA polymerase I and III subunit D |
|
ISO |
ClinVar Annotator: match by term: Treacher Collins syndrome 2 |
OMIM ClinVar |
PMID:21131976 PMID:24603435 PMID:25741868 PMID:28492532 PMID:34397304 |
|
NCBI chr12:7,970,592...8,004,157
Ensembl chr12:7,970,595...8,005,624
|
|
|
G |
Polr1c |
RNA polymerase I and III subunit C |
|
ISO |
ClinVar Annotator: match by term: Treacher Collins Syndrome, Recessive | ClinVar Annotator: match by term: Treacher Collins syndrome 3 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:610060 PMID:11013442 PMID:21131976 PMID:22563501 PMID:22855961 PMID:24942156 PMID:25741868 PMID:26151409 PMID:26467025 PMID:28327206 PMID:28492532 PMID:29567474 PMID:29644095 PMID:30957429 PMID:31019026 PMID:32042905 PMID:33176815 PMID:33597727 PMID:33804237 PMID:33888711 PMID:34645491 More...
|
|
NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
|
|
|
G |
Polr1b |
RNA polymerase I subunit B |
|
ISO |
ClinVar Annotator: match by term: Treacher Collins syndrome 4 |
OMIM ClinVar |
PMID:25741868 PMID:31649276 |
|
NCBI chr 3:116,333,910...116,358,385
Ensembl chr 3:116,333,889...116,358,379
|
|
|
G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Trigonocephaly 1 |
OMIM ClinVar |
PMID:9536098 PMID:10629055 PMID:11173846 PMID:12627230 PMID:14513299 PMID:15365636 PMID:15605412 PMID:15793702 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...
|
|
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
|
|
|
G |
Frem1 |
Fras1 related extracellular matrix 1 |
|
ISO |
ClinVar Annotator: match by term: Trigonocephaly 2 |
OMIM ClinVar |
PMID:9536098 PMID:11332973 PMID:17576681 PMID:21507892 PMID:21931569 PMID:25741868 PMID:26893459 PMID:28492532 More...
|
|
NCBI chr 5:97,321,266...97,469,523
Ensembl chr 5:97,322,538...97,469,543
|
|
|
G |
Zfp407 |
zinc finger protein 407 |
|
ISO |
ClinVar Annotator: match by term: Radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation |
ClinVar |
PMID:25741868 |
|
NCBI chr18:77,571,140...77,970,282
Ensembl chr18:77,571,204...77,974,129
|
|
|
G |
Smo |
smoothened, frizzled class receptor |
|
ISO |
ClinVar Annotator: match by term: Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development | ClinVar Annotator: match by term: Curry-Jones syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:3144990 PMID:7606318 PMID:16531740 PMID:18798318 PMID:24728327 PMID:25741868 PMID:27236920 PMID:28492532 More...
|
|
NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829
|
|