|
G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
|
ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
|
NCBI chrNW_004936578:3,168,599...3,179,369
Ensembl chrNW_004936578:3,168,331...3,171,928
|
|
G |
Ahsg |
alpha 2-HS glycoprotein |
|
ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
|
NCBI chrNW_004936578:3,332,934...3,339,903
Ensembl chrNW_004936578:3,332,934...3,339,903
|
|
G |
Colec11 |
collectin subfamily member 11 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21258343 |
|
NCBI chrNW_004936532:1,757,288...1,776,053
Ensembl chrNW_004936532:1,749,894...1,776,001
|
|
G |
Crygs |
crystallin gamma S |
|
ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
|
NCBI chrNW_004936578:3,404,552...3,410,604
Ensembl chrNW_004936578:3,404,673...3,410,760
|
|
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 chrNW_004936578:3,360,259...3,374,634
Ensembl chrNW_004936578:3,360,259...3,374,612
|
|
G |
Eif4a2 |
eukaryotic translation initiation factor 4A2 |
|
ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
|
NCBI chrNW_004936578:3,219,842...3,225,261
|
|
G |
Fetub |
fetuin B |
|
ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
|
NCBI chrNW_004936578:3,302,005...3,310,536
Ensembl chrNW_004936578:3,302,084...3,310,536
|
|
G |
Hrg |
histidine rich glycoprotein |
|
ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
|
NCBI chrNW_004936578:3,285,986...3,295,876
Ensembl chrNW_004936578:3,285,986...3,295,876
|
|
G |
Kng1 |
kininogen 1 |
|
ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
|
NCBI chrNW_004936578:3,255,335...3,281,296
Ensembl chrNW_004936578:3,253,749...3,281,296
|
|
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 |
OMIM ClinVar |
PMID:17937425 PMID:18266249 PMID:21035106 PMID:21258343 PMID:22966085 PMID:25741868 PMID:25741916 PMID:28492532 PMID:28534045 PMID:28794230 PMID:29407414 PMID:30601195 PMID:33144682 More...
|
|
NCBI chrNW_004936578:2,804,460...2,857,731
Ensembl chrNW_004936578:2,804,460...2,869,582
|
|
G |
Rfc4 |
replication factor C subunit 4 |
|
ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
|
NCBI chrNW_004936578:3,204,035...3,219,806
|
|
G |
Rtp1 |
receptor transporter protein 1 |
|
ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
|
NCBI chrNW_004936578:2,886,994...2,889,557
Ensembl chrNW_004936578:2,886,994...2,889,557
|
|
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 chrNW_004936578:2,966,690...3,107,237
Ensembl chrNW_004936578:2,966,694...3,003,970
|
|
G |
Tbccd1 |
TBCC domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: 3MC syndrome 1 |
ClinVar |
PMID:28492532 PMID:29407414 |
|
NCBI chrNW_004936578:3,374,826...3,404,462
Ensembl chrNW_004936578:3,377,256...3,403,598
|
|
|
G |
Fgfr1 |
fibroblast growth factor receptor 1 |
|
ISO |
DNA:missense mutation: :p.P252R (human) |
RGD |
PMID:7874169 PMID:25251565 |
RGD:11567243 RGD:11567271 |
NCBI chrNW_004936710:1,760,365...1,815,269
Ensembl chrNW_004936710:1,760,089...1,815,508
|
|
G |
Fgfr2 |
fibroblast growth factor receptor 2 |
treatment severity |
ISO |
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 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) |
OMIM ClinVar 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:9521581 PMID:9536098 PMID:9677057 PMID:9700203 PMID:9719378 PMID:9973282 PMID:10394936 PMID:10618369 PMID:10633130 PMID:10735635 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: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:270283566 More...
|
RGD:12801474 RGD:12801488 |
NCBI chrNW_004936486:10,506,680...10,606,272
Ensembl chrNW_004936486:10,507,097...10,602,019
|
|
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: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:25741868 PMID:25741914 PMID:26740388 PMID:28492532 PMID:32238909 More...
|
|
NCBI chrNW_004936477:21,591,772...21,606,289
Ensembl chrNW_004936477:21,591,792...21,606,296
|
|
G |
Twist1 |
twist family bHLH transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly |
ClinVar |
PMID:1240778 PMID:8968762 PMID:8988166 PMID:8988167 PMID:9259286 PMID:9585583 PMID:9792856 PMID:10094188 PMID:10649491 PMID:10749989 PMID:11248247 PMID:11474656 PMID:11748846 PMID:11754069 PMID:11977182 PMID:11992718 PMID:12116251 PMID:12791045 PMID:14513358 PMID:15923834 PMID:16251895 PMID:16838304 PMID: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:33369125 PMID:33547006 PMID:33937142 More...
|
|
NCBI chrNW_004936546:5,331,220...5,332,669
Ensembl chrNW_004936546:5,331,863...5,332,555
|
|
|
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:28492532 PMID:34341987 PMID:37075751 |
|
NCBI chrNW_004936712:1,331,016...1,390,544
Ensembl chrNW_004936712:1,331,073...1,389,856
|
|
|
G |
Zswim6 |
zinc finger SWIM-type containing 6 |
|
ISO |
ClinVar Annotator: match by term: Acromelic frontonasal dysostosis |
OMIM ClinVar |
PMID:25105228 PMID:25741868 PMID:26706854 PMID:28492532 |
|
NCBI chrNW_004936480:7,049,499...7,239,035
Ensembl chrNW_004936480:7,051,334...7,239,677
|
|
|
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 More...
|
|
NCBI chrNW_004936486:10,506,680...10,606,272
Ensembl chrNW_004936486:10,507,097...10,602,019
|
|
G |
LOC101955024 |
lanosterol 14-alpha demethylase |
|
ISO |
|
RGD |
PMID:21705796 |
RGD:41412188 |
NCBI chrNW_004936621:2,209,255...2,232,404
Ensembl chrNW_004936621:2,209,199...2,232,531
|
|
G |
LOC101965545 |
NADPH--cytochrome P450 reductase |
|
ISO |
ClinVar Annotator: match by term: POR Deficiency |
ClinVar |
PMID:12116245 PMID:14758361 PMID:15220035 PMID:15793702 PMID:18551037 PMID:20188793 PMID:20940534 PMID:21741353 PMID:22162478 PMID:25741868 PMID:27068427 PMID:28492532 More...
|
|
NCBI chrNW_004936543:2,275,981...2,327,931
Ensembl chrNW_004936543:2,274,059...2,328,008
|
|
|
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 More...
|
|
NCBI chrNW_004936486:10,506,680...10,606,272
Ensembl chrNW_004936486:10,507,097...10,602,019
|
|
G |
LOC101965545 |
NADPH--cytochrome P450 reductase |
|
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 More...
|
|
NCBI chrNW_004936543:2,275,981...2,327,931
Ensembl chrNW_004936543:2,274,059...2,328,008
|
|
|
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 More...
|
|
NCBI chrNW_004936486:10,506,680...10,606,272
Ensembl chrNW_004936486:10,507,097...10,602,019
|
|
G |
LOC101965545 |
NADPH--cytochrome P450 reductase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chrNW_004936543:2,275,981...2,327,931
Ensembl chrNW_004936543:2,274,059...2,328,008
|
|
|
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 chrNW_004936520:1,987,989...2,146,473
Ensembl chrNW_004936520:1,987,045...2,146,540
|
|
|
G |
Gja1 |
gap junction protein alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive |
OMIM ClinVar |
PMID:11146471 PMID:23951358 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936658:3,920,043...3,932,987
Ensembl chrNW_004936658:3,920,043...3,932,987
|
|
|
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 chrNW_004936629:4,170,186...4,242,100
Ensembl chrNW_004936629:4,170,817...4,242,103
|
|
|
G |
Arhgap39 |
Rho GTPase activating protein 39 |
|
ISO |
ClinVar Annotator: match by term: Baller-Gerold syndrome |
ClinVar |
PMID:12734318 PMID:12952869 PMID:28492532 |
|
NCBI chrNW_004936470:7,703,107...7,744,892
Ensembl chrNW_004936470:7,703,125...7,744,161
|
|
G |
CUNH8orf82 |
chromosome unknown C8orf82 homolog |
|
ISO |
ClinVar Annotator: match by term: Baller-Gerold syndrome |
ClinVar |
PMID:12734318 PMID:12952869 PMID:28492532 |
|
NCBI chrNW_004936470:7,744,368...7,747,385
Ensembl chrNW_004936470:7,744,986...7,747,385
|
|
G |
Gpt |
glutamic--pyruvic transaminase |
|
ISO |
ClinVar Annotator: match by term: Baller-Gerold syndrome |
ClinVar |
PMID:12734318 PMID:28492532 |
|
NCBI chrNW_004936470:7,765,810...7,770,837
Ensembl chrNW_004936470:7,765,703...7,768,465
|
|
G |
Lrrc14 |
leucine rich repeat containing 14 |
|
ISO |
ClinVar Annotator: match by term: Baller-Gerold syndrome |
ClinVar |
PMID:12734318 PMID:12952869 PMID:28492532 |
|
NCBI chrNW_004936470:7,751,426...7,755,272
|
|
G |
Lrrc24 |
leucine rich repeat containing 24 |
|
ISO |
ClinVar Annotator: match by term: Baller-Gerold syndrome |
ClinVar |
PMID:12734318 PMID:12952869 PMID:28492532 |
|
NCBI chrNW_004936470:7,746,745...7,751,433
Ensembl chrNW_004936470:7,748,770...7,751,127
|
|
G |
Mfsd3 |
major facilitator superfamily domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Baller-Gerold syndrome |
ClinVar |
PMID:12734318 PMID:28492532 |
|
NCBI chrNW_004936470:7,761,645...7,764,230
Ensembl chrNW_004936470:7,761,721...7,764,269
|
|
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 |
OMIM ClinVar |
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 chrNW_004936470:7,755,253...7,761,705
|
|
G |
Znf251 |
zinc finger protein 251 |
|
ISO |
ClinVar Annotator: match by term: Baller-Gerold syndrome |
ClinVar |
PMID:12734318 PMID:12952869 PMID:28492532 |
|
NCBI chrNW_004936470:7,591,956...7,620,288
Ensembl chrNW_004936470:7,598,289...7,631,740
|
|
|
G |
Ripk4 |
receptor interacting serine/threonine kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Bartsocas-Papas syndrome 1 | ClinVar Annotator: match by term: MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE |
OMIM 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 chrNW_004936500:2,017,519...2,038,777
Ensembl chrNW_004936500:2,017,518...2,039,108
|
|
|
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 chrNW_004936636:33,933...78,990
Ensembl chrNW_004936636:33,673...79,194
|
|
|
G |
Med25 |
mediator complex subunit 25 |
|
ISO |
ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome |
OMIM ClinVar |
PMID:25488817 PMID:25741868 PMID:25792360 PMID:28170084 PMID:28492532 PMID:30039206 PMID:32324310 PMID:32371413 PMID:32376792 More...
|
|
NCBI chrNW_004936664:3,610,004...3,629,850
Ensembl chrNW_004936664:3,609,451...3,628,337
|
|
|
G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Beare-Stevenson cutis gyrata syndrome | ClinVar Annotator: match by term: Cutis Gyrata syndrome of Beare and Stevenson |
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: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: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 More...
|
|
NCBI chrNW_004936486:10,506,680...10,606,272
Ensembl chrNW_004936486:10,507,097...10,602,019
|
|
|
G |
Asxl1 |
ASXL transcriptional regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Bohring-Opitz syndrome |
OMIM ClinVar |
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: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 More...
|
|
NCBI chrNW_004936485:19,218,494...19,297,188
Ensembl chrNW_004936485:19,227,400...19,298,912
|
|
G |
Klhl7 |
kelch like family member 7 |
|
ISO |
ClinVar Annotator: match by term: Bohring-Opitz syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936478:279,580...337,655
Ensembl chrNW_004936478:279,067...337,752
|
|
|
G |
Rps23 |
ribosomal protein S23 |
|
ISO |
ClinVar Annotator: match by term: Brachycephaly, trichomegaly, and developmental delay |
OMIM ClinVar |
PMID:25741868 PMID:28257692 |
|
NCBI chrNW_004936469:1,523,667...1,525,830
|
|
|
G |
Hoxd13 |
homeobox D13 |
|
ISO |
ClinVar Annotator: match by term: Brachydactyly-syndactyly syndrome | ClinVar Annotator: match by term: Brachydactyly-syndactyly-oligodactyly syndrome |
OMIM ClinVar |
PMID:17236141 PMID:22233338 PMID:23995701 PMID:25741868 |
|
NCBI chrNW_004936509:5,579,846...5,581,651
Ensembl chrNW_004936509:5,579,843...5,581,651
|
|
|
G |
Cd96 |
CD96 molecule |
|
ISO |
ClinVar Annotator: match by term: C syndrome |
OMIM ClinVar |
PMID:16199547 PMID:17847009 PMID:25741868 PMID:28492532 PMID:34906502 |
|
NCBI chrNW_004936834:432,538...522,118
Ensembl chrNW_004936834:434,877...522,411
|
|
|
G |
Pitx1 |
paired like homeodomain 1 |
|
ISO |
ClinVar Annotator: match by term: Liebenberg syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936597:2,211,087...2,217,065
Ensembl chrNW_004936597:2,211,080...2,217,071
|
|
|
G |
Bag2 |
BAG cochaperone 2 |
|
ISO |
ClinVar Annotator: match by term: Acrocephalopolysyndactyly Type II | ClinVar Annotator: match by term: Carpenter syndrome |
ClinVar |
|
|
NCBI chrNW_004936476:4,131,159...4,142,357
Ensembl chrNW_004936476:4,129,013...4,142,357
|
|
G |
Megf8 |
multiple EGF like domains 8 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome |
ClinVar |
|
|
NCBI chrNW_004936706:157,167...198,071
Ensembl chrNW_004936706:157,019...197,500
|
|
G |
Rab23 |
RAB23, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: ACPS 2 | ClinVar Annotator: match by term: Acrocephalopolysyndactyly Type II | ClinVar Annotator: match by term: Carpenter syndrome |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17503333 PMID:17576681 PMID:20358613 PMID:21412941 PMID:23599695 PMID:24458945 PMID:25168863 PMID:25741868 PMID:28492532 More...
|
|
NCBI chrNW_004936476:4,095,829...4,127,714
Ensembl chrNW_004936476:4,095,329...4,127,701
|
|
|
G |
Bag2 |
BAG cochaperone 2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 1 |
ClinVar |
|
|
NCBI chrNW_004936476:4,131,159...4,142,357
Ensembl chrNW_004936476:4,129,013...4,142,357
|
|
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:28492532 More...
|
|
NCBI chrNW_004936476:4,095,829...4,127,714
Ensembl chrNW_004936476:4,095,329...4,127,701
|
|
|
G |
Actmap |
actin maturation protease |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,024,581...3,029,867
Ensembl chrNW_004936661:3,024,984...3,029,158
|
|
G |
Akt2 |
AKT serine/threonine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,652,568...2,694,039
Ensembl chrNW_004936661:2,652,566...2,694,086
|
|
G |
Arhgef1 |
Rho guanine nucleotide exchange factor 1 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:540,987...558,792
Ensembl chrNW_004936706:540,748...558,823
|
|
G |
Atp1a3 |
ATPase Na+/K+ transporting subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:476,473...494,659
Ensembl chrNW_004936706:477,107...495,525
|
|
G |
Axl |
AXL receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,658,140...3,687,290
Ensembl chrNW_004936661:3,657,831...3,687,816
|
|
G |
B3gnt8 |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,817,791...3,819,854
Ensembl chrNW_004936661:3,818,120...3,819,307
|
|
G |
B9d2 |
B9 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,759,031...3,765,361
Ensembl chrNW_004936661:3,758,909...3,765,513
|
|
G |
Bckdha |
branched chain keto acid dehydrogenase E1 subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,799,998...3,817,560
Ensembl chrNW_004936661:3,799,955...3,819,851
|
|
G |
Blvrb |
biliverdin reductase B |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,808,998...2,818,123
Ensembl chrNW_004936661:2,808,950...2,818,178
|
|
G |
Ccdc97 |
coiled-coil domain containing 97 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,724,943...3,736,936
Ensembl chrNW_004936661:3,725,591...3,736,877
|
|
G |
Ccnp |
cyclin P |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,643,546...2,648,600
|
|
G |
Cd79a |
CD79a molecule |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:561,195...564,577
Ensembl chrNW_004936706:561,140...564,661
|
|
G |
Cic |
capicua transcriptional repressor |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:216,394...243,361
Ensembl chrNW_004936706:212,833...242,756
|
|
G |
Cnfn |
cornifelin |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:149,643...151,088
Ensembl chrNW_004936706:149,643...151,088
|
|
G |
Coq8b |
coenzyme Q8B |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,989,164...3,008,955
Ensembl chrNW_004936661:2,989,162...3,006,289
|
|
G |
CUNH19orf47 |
chromosome unknown C19orf47 homolog |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,719,382...2,741,373
Ensembl chrNW_004936661:2,719,387...2,741,373
|
|
G |
Dedd2 |
death effector domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:285,874...302,910
Ensembl chrNW_004936706:285,820...305,869
|
|
G |
Dll3 |
delta like canonical Notch ligand 3 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,322,531...2,330,150
Ensembl chrNW_004936661:2,322,531...2,329,953
|
|
G |
Dmac2 |
distal membrane arm assembly component 2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,824,379...3,826,411
|
|
G |
Dmrtc2 |
DMRT like family C2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:582,541...586,735
Ensembl chrNW_004936706:582,541...586,715
|
|
G |
Dyrk1b |
dual specificity tyrosine phosphorylation regulated kinase 1B |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,436,702...2,444,758
Ensembl chrNW_004936661:2,433,483...2,444,752
|
|
G |
Egln2 |
egl-9 family hypoxia inducible factor 2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,061,391...3,070,219
Ensembl chrNW_004936661:3,061,308...3,070,192
|
|
G |
Eid2 |
EP300 interacting inhibitor of differentiation 2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,364,179...2,366,739
Ensembl chrNW_004936661:2,365,861...2,366,586
|
|
G |
Eid2b |
EP300 interacting inhibitor of differentiation 2B |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,352,726...2,354,968
Ensembl chrNW_004936661:2,354,497...2,354,966
|
|
G |
Erf |
ETS2 repressor factor |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:255,479...263,154
Ensembl chrNW_004936706:255,407...263,179
|
|
G |
Erich4 |
glutamate rich 4 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,829,881...3,834,379
Ensembl chrNW_004936661:3,829,577...3,834,487
|
|
G |
Exosc5 |
exosome component 5 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,790,283...3,799,602
Ensembl chrNW_004936661:3,790,302...3,799,660
|
|
G |
Fbl |
fibrillarin |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,444,985...2,455,423
Ensembl chrNW_004936661:2,444,866...2,455,528
|
|
G |
Fcgbp |
Fc gamma binding protein |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,458,960...2,494,793
|
|
G |
Grik5 |
glutamate ionotropic receptor kainate type subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:410,806...469,000
Ensembl chrNW_004936706:410,938...464,714
|
|
G |
Gsk3a |
glycogen synthase kinase 3 alpha |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:266,462...277,256
Ensembl chrNW_004936706:269,126...277,256
|
|
G |
Hipk4 |
homeodomain interacting protein kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,764,661...2,770,110
Ensembl chrNW_004936661:2,764,661...2,770,110
|
|
G |
Hnrnpul1 |
heterogeneous nuclear ribonucleoprotein U like 1 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,688,328...3,723,405
Ensembl chrNW_004936661:3,690,137...3,723,391
|
|
G |
Itpkc |
inositol-trisphosphate 3-kinase C |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,006,506...3,023,355
Ensembl chrNW_004936661:3,006,505...3,022,823
|
|
G |
Leutx |
leucine twenty homeobox |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,399,154...2,406,044
|
|
G |
Lipe |
lipase E, hormone sensitive type |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:122,939...139,506
Ensembl chrNW_004936706:128,133...141,276
|
|
G |
Ltbp4 |
latent transforming growth factor beta binding protein 4 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,919,444...2,945,847
Ensembl chrNW_004936661:2,919,550...2,945,599
|
|
G |
Lypd4 |
LY6/PLAUR domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:591,128...593,307
|
|
G |
Map3k10 |
mitogen-activated protein kinase kinase kinase 10 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,623,356...2,638,218
|
|
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 chrNW_004936706:157,167...198,071
Ensembl chrNW_004936706:157,019...197,500
|
|
G |
Mia |
MIA SH3 domain containing |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,047,735...3,049,050
Ensembl chrNW_004936661:3,047,747...3,049,064
|
|
G |
Numbl |
NUMB like endocytic adaptor protein |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,962,741...2,984,763
Ensembl chrNW_004936661:2,963,510...2,984,740
|
|
G |
Pafah1b3 |
platelet activating factor acetylhydrolase 1b catalytic subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:212,635...215,498
Ensembl chrNW_004936706:212,096...215,497
|
|
G |
Pld3 |
phospholipase D family member 3 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,741,523...2,763,945
Ensembl chrNW_004936661:2,741,234...2,767,121
|
|
G |
Plekhg2 |
pleckstrin homology and RhoGEF domain containing G2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,257,097...2,268,301
Ensembl chrNW_004936661:2,257,068...2,268,716
|
|
G |
Pou2f2 |
POU class 2 homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:335,613...393,854
Ensembl chrNW_004936706:320,539...392,414
|
|
G |
Prr19 |
proline rich 19 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:209,013...210,326
Ensembl chrNW_004936706:209,083...210,247
|
|
G |
Prx |
periaxin |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,772,446...2,783,120
Ensembl chrNW_004936661:2,772,621...2,787,647
|
|
G |
Psmc4 |
proteasome 26S subunit, ATPase 4 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,522,665...2,528,279
Ensembl chrNW_004936661:2,522,615...2,528,284
|
|
G |
Rab4b |
RAB4B, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,049,802...3,059,921
Ensembl chrNW_004936661:3,049,638...3,059,963
|
|
G |
Rabac1 |
Rab acceptor 1 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:498,271...500,847
Ensembl chrNW_004936706:497,963...500,842
|
|
G |
Rps16 |
ribosomal protein S16 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,271,747...2,274,769
Ensembl chrNW_004936661:2,271,396...2,274,965
|
|
G |
Rps19 |
ribosomal protein S19 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:568,443...575,973
Ensembl chrNW_004936706:568,364...575,126
|
|
G |
Selenov |
selenoprotein V |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,335,170...2,338,422
|
|
G |
Sertad1 |
SERTA domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,792,501...2,793,901
Ensembl chrNW_004936661:2,792,850...2,793,590
|
|
G |
Sertad3 |
SERTA domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,801,975...2,806,095
|
|
G |
Shkbp1 |
SH3KBP1 binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,903,986...2,915,908
Ensembl chrNW_004936661:2,903,938...2,915,910
|
|
G |
Snrpa |
small nuclear ribonucleoprotein polypeptide A |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,030,104...3,041,877
Ensembl chrNW_004936661:3,029,802...3,041,877
|
|
G |
Sptbn4 |
spectrin beta, non-erythrocytic 4 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,831,132...2,903,619
Ensembl chrNW_004936661:2,827,572...2,903,655
|
|
G |
Supt5h |
SPT5 homolog, DSIF elongation factor subunit |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,280,390...2,308,085
Ensembl chrNW_004936661:2,280,285...2,308,780
|
|
G |
Tgfb1 |
transforming growth factor beta 1 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272
|
|
G |
Timm50 |
translocase of inner mitochondrial membrane 50 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,310,169...2,318,035
Ensembl chrNW_004936661:2,310,125...2,318,258
|
|
G |
Tmem145 |
transmembrane protein 145 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:198,105...206,794
Ensembl chrNW_004936706:198,339...206,739
|
|
G |
Tmem91 |
transmembrane protein 91 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,784,545...3,788,434
Ensembl chrNW_004936661:3,783,709...3,788,244
|
|
G |
Ttc9b |
tetratricopeptide repeat domain 9B |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,638,394...2,640,785
Ensembl chrNW_004936661:2,637,189...2,640,725
|
|
G |
Znf526 |
zinc finger protein 526 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:278,730...284,232
Ensembl chrNW_004936706:280,075...282,078
|
|
G |
Znf546 |
zinc finger protein 546 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,545,011...2,564,695
Ensembl chrNW_004936661:2,544,960...2,567,691
|
|
G |
Znf574 |
zinc finger protein 574 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:401,188...406,481
Ensembl chrNW_004936706:401,447...404,140
|
|
|
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 |
OMIM ClinVar |
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 chrNW_004936562:2,211,519...2,262,899
Ensembl chrNW_004936562:2,211,514...2,263,937
|
|
|
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 |
OMIM ClinVar |
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:25741916 PMID:28492532 More...
|
|
NCBI chrNW_004936542:4,501,081...4,602,338
Ensembl chrNW_004936542:4,539,931...4,602,344
|
|
|
G |
P4hb |
prolyl 4-hydroxylase subunit beta |
|
ISO |
ClinVar Annotator: match by term: Cole-Carpenter syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936594:5,368,199...5,379,215
Ensembl chrNW_004936594:5,367,816...5,379,252
|
|
G |
Sec24d |
SEC24 homolog D, COPII coat complex component |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chrNW_004936869:485,706...566,591
Ensembl chrNW_004936869:522,706...563,704
|
|
|
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 chrNW_004936594:5,368,199...5,379,215
Ensembl chrNW_004936594:5,367,816...5,379,252
|
|
|
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 chrNW_004936869:485,706...566,591
Ensembl chrNW_004936869:522,706...563,704
|
|
|
G |
Wdpcp |
WD repeat containing planar cell polarity effector |
|
ISO |
ClinVar Annotator: match by term: Heart defect - tongue hamartoma - polysyndactyly syndrome | ClinVar Annotator: match by term: WDPCP-related condition |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20671153 PMID:25326635 PMID:25427950 PMID:25741868 PMID:27158779 PMID:28289185 PMID:28492532 PMID:29588463 PMID:33046855 More...
|
|
NCBI chrNW_004936491:8,238,644...8,749,172
Ensembl chrNW_004936491:8,239,284...8,485,636
|
|
|
G |
Ift122 |
intraflagellar transport 122 |
|
ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia |
ClinVar |
PMID:23826986 PMID:24027799 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936602:908,034...956,634
Ensembl chrNW_004936602:905,486...956,521
|
|
G |
Ift43 |
intraflagellar transport 43 |
|
ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia |
ClinVar |
|
|
NCBI chrNW_004936488:5,011,792...5,090,980
Ensembl chrNW_004936488:5,011,642...5,091,007
|
|
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 chrNW_004936493:11,352,206...11,371,596
Ensembl chrNW_004936493:11,352,206...11,371,349
|
|
G |
Tgfb3 |
transforming growth factor beta 3 |
|
ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia |
ClinVar |
|
|
NCBI chrNW_004936488:4,986,712...5,008,728
Ensembl chrNW_004936488:4,986,748...5,008,496
|
|
G |
Wdr19 |
WD repeat domain 19 |
|
ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia |
ClinVar |
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 chrNW_004936482:6,863,592...6,937,810
Ensembl chrNW_004936482:6,863,571...6,937,979
|
|
G |
Wdr35 |
WD repeat domain 35 |
|
ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia | ClinVar Annotator: match by term: Sensenbrenner syndrome |
ClinVar |
PMID:22486404 PMID:24033266 PMID:25741868 PMID:25914204 PMID:28332779 PMID:28492532 PMID:29068549 More...
|
|
NCBI chrNW_004936493:11,374,681...11,435,792
Ensembl chrNW_004936493:11,374,671...11,436,233
|
|
|
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:25741868 PMID:26792575 PMID:28370949 PMID:28492532 PMID:29037998 PMID:33532864 PMID:33717254 More...
|
|
NCBI chrNW_004936602:908,034...956,634
Ensembl chrNW_004936602:905,486...956,521
|
|
G |
Mbd4 |
methyl-CpG binding domain 4, DNA glycosylase |
|
ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936602:968,159...980,452
Ensembl chrNW_004936602:956,784...967,884
|
|
G |
Rho |
rhodopsin |
|
ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936602:896,730...901,480
Ensembl chrNW_004936602:894,617...901,664
|
|
|
G |
Matn3 |
matrilin 3 |
|
ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936493:11,352,206...11,371,596
Ensembl chrNW_004936493:11,352,206...11,371,349
|
|
G |
Spag17 |
sperm associated antigen 17 |
|
ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 |
ClinVar |
|
|
NCBI chrNW_004936627:3,002,893...3,201,294
Ensembl chrNW_004936627:3,003,160...3,201,263
|
|
G |
Wdr35 |
WD repeat domain 35 |
|
ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 |
OMIM ClinVar |
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:25741914 PMID:25908617 PMID:25914204 PMID:26691894 PMID:27158779 PMID:28332779 PMID:28400947 PMID:28492532 PMID:28870638 PMID:29068549 PMID:31785789 PMID:33369054 PMID:33606107 PMID:34421506 More...
|
|
NCBI chrNW_004936493:11,374,681...11,435,792
Ensembl chrNW_004936493:11,374,671...11,436,233
|
|
|
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 chrNW_004936488:5,011,792...5,090,980
Ensembl chrNW_004936488:5,011,642...5,091,007
|
|
|
G |
Wdr19 |
WD repeat domain 19 |
|
ISO |
ClinVar Annotator: match by term: Cranioectodermal dysplasia 4 |
OMIM ClinVar |
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 More...
|
|
NCBI chrNW_004936482:6,863,592...6,937,810
Ensembl chrNW_004936482:6,863,571...6,937,979
|
|
|
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 chrNW_004936712:517,566...522,709
Ensembl chrNW_004936712:517,562...522,925
|
|
|
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 chrNW_004936486:11,668,099...11,707,946
Ensembl chrNW_004936486:11,668,099...11,711,786
|
|
G |
Actmap |
actin maturation protease |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,024,581...3,029,867
Ensembl chrNW_004936661:3,024,984...3,029,158
|
|
G |
Akt2 |
AKT serine/threonine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,652,568...2,694,039
Ensembl chrNW_004936661:2,652,566...2,694,086
|
|
G |
Aloxe3 |
arachidonate lipoxygenase 3 |
|
ISO |
ClinVar Annotator: match by term: Brachycephaly |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936595:1,329,492...1,350,914
Ensembl chrNW_004936595:1,329,435...1,350,923
|
|
G |
Alx4 |
ALX homeobox 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chrNW_004936562:4,316,550...4,326,022
Ensembl chrNW_004936562:4,314,870...4,326,000
|
|
G |
Arhgef1 |
Rho guanine nucleotide exchange factor 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:540,987...558,792
Ensembl chrNW_004936706:540,748...558,823
|
|
G |
Ate1 |
arginyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
|
NCBI chrNW_004936486:10,714,287...10,854,982
Ensembl chrNW_004936486:10,713,527...10,856,345
|
|
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 chrNW_004936706:476,473...494,659
Ensembl chrNW_004936706:477,107...495,525
|
|
G |
Axin2 |
axin 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936541:7,155,963...7,242,466
Ensembl chrNW_004936541:7,211,985...7,242,470
|
|
G |
Axl |
AXL receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,658,140...3,687,290
Ensembl chrNW_004936661:3,657,831...3,687,816
|
|
G |
B3gnt8 |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,817,791...3,819,854
Ensembl chrNW_004936661:3,818,120...3,819,307
|
|
G |
B9d2 |
B9 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,759,031...3,765,361
Ensembl chrNW_004936661:3,758,909...3,765,513
|
|
G |
Bbs9 |
Bardet-Biedl syndrome 9 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism DNA:SNPs:introns:rs10262453,rs17724206,rs1884302(human) |
CTD RGD |
PMID:23160099 |
RGD:9684995 |
NCBI chrNW_004936478:8,959,198...9,408,683
Ensembl chrNW_004936478:8,959,121...9,408,714
|
|
G |
Bckdha |
branched chain keto acid dehydrogenase E1 subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,799,998...3,817,560
Ensembl chrNW_004936661:3,799,955...3,819,851
|
|
G |
Blvrb |
biliverdin reductase B |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,808,998...2,818,123
Ensembl chrNW_004936661:2,808,950...2,818,178
|
|
G |
Bmp2 |
bone morphogenetic protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23160099 |
|
NCBI chrNW_004936485:12,428,765...12,439,570
Ensembl chrNW_004936485:12,428,710...12,439,454
|
|
G |
Btbd16 |
BTB domain containing 16 |
|
ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
|
NCBI chrNW_004936486:11,112,148...11,155,652
Ensembl chrNW_004936486:11,110,228...11,155,580
|
|
G |
Ccdc97 |
coiled-coil domain containing 97 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,724,943...3,736,936
Ensembl chrNW_004936661:3,725,591...3,736,877
|
|
G |
Ccnp |
cyclin P |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,643,546...2,648,600
|
|
G |
Cd79a |
CD79a molecule |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:561,195...564,577
Ensembl chrNW_004936706:561,140...564,661
|
|
G |
Cic |
capicua transcriptional repressor |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:216,394...243,361
Ensembl chrNW_004936706:212,833...242,756
|
|
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 chrNW_004936469:49,067,357...49,335,212
Ensembl chrNW_004936469:49,067,012...49,335,219
|
|
G |
Cnfn |
cornifelin |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:149,643...151,088
Ensembl chrNW_004936706:149,643...151,088
|
|
G |
Coq8b |
coenzyme Q8B |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,989,164...3,008,955
Ensembl chrNW_004936661:2,989,162...3,006,289
|
|
G |
CUNH10orf88 |
chromosome unknown C10orf88 homolog |
|
ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
|
NCBI chrNW_004936486:11,626,332...11,631,524
|
|
G |
CUNH19orf47 |
chromosome unknown C19orf47 homolog |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,719,382...2,741,373
Ensembl chrNW_004936661:2,719,387...2,741,373
|
|
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 chrNW_004936486:11,550,513...11,560,853
Ensembl chrNW_004936486:11,550,562...11,560,853
|
|
G |
Dedd2 |
death effector domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis |
ClinVar |
PMID:23354439 PMID:26097063 PMID:28492532 PMID:28808027 |
|
NCBI chrNW_004936706:285,874...302,910
Ensembl chrNW_004936706:285,820...305,869
|
|
G |
Dll3 |
delta like canonical Notch ligand 3 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,322,531...2,330,150
Ensembl chrNW_004936661:2,322,531...2,329,953
|
|
G |
Dmac2 |
distal membrane arm assembly component 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,824,379...3,826,411
|
|
G |
Dmrtc2 |
DMRT like family C2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:582,541...586,735
Ensembl chrNW_004936706:582,541...586,715
|
|
G |
Dyrk1b |
dual specificity tyrosine phosphorylation regulated kinase 1B |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,436,702...2,444,758
Ensembl chrNW_004936661:2,433,483...2,444,752
|
|
G |
Efnb1 |
ephrin B1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15166289 |
|
NCBI chrNW_004936777:434,729...447,778
Ensembl chrNW_004936777:434,692...447,780
|
|
G |
Egln2 |
egl-9 family hypoxia inducible factor 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,061,391...3,070,219
Ensembl chrNW_004936661:3,061,308...3,070,192
|
|
G |
Eid2 |
EP300 interacting inhibitor of differentiation 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,364,179...2,366,739
Ensembl chrNW_004936661:2,365,861...2,366,586
|
|
G |
Eid2b |
EP300 interacting inhibitor of differentiation 2B |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,352,726...2,354,968
Ensembl chrNW_004936661:2,354,497...2,354,966
|
|
G |
Erf |
ETS2 repressor factor |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2-related craniosynostosis | ClinVar Annotator: match by term: Lambdoid synostosis | ClinVar Annotator: match by term: Syndromic craniosynostosis |
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 chrNW_004936706:255,479...263,154
Ensembl chrNW_004936706:255,407...263,179
|
|
G |
Erich4 |
glutamate rich 4 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,829,881...3,834,379
Ensembl chrNW_004936661:3,829,577...3,834,487
|
|
G |
Exosc5 |
exosome component 5 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,790,283...3,799,602
Ensembl chrNW_004936661:3,790,302...3,799,660
|
|
G |
Ezh2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26424790 |
|
NCBI chrNW_004936527:5,024,077...5,069,152
Ensembl chrNW_004936527:5,024,068...5,063,939
|
|
G |
Fbl |
fibrillarin |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,444,985...2,455,423
Ensembl chrNW_004936661:2,444,866...2,455,528
|
|
G |
Fbn1 |
fibrillin 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis |
ClinVar |
PMID:25741868 PMID:31837199 |
|
NCBI chrNW_004936471:10,747,030...10,969,223
Ensembl chrNW_004936471:10,746,996...10,969,231
|
|
G |
Fbn2 |
fibrillin 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936504:1,535,629...1,757,386
Ensembl chrNW_004936504:1,535,624...1,757,435
|
|
G |
Fcgbp |
Fc gamma binding protein |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,458,960...2,494,793
|
|
G |
Fgfr1 |
fibroblast growth factor receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Craniosynostosis, nonspecific |
ClinVar |
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 More...
|
|
NCBI chrNW_004936710:1,760,365...1,815,269
Ensembl chrNW_004936710:1,760,089...1,815,508
|
|
G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: FGFR2 related craniosynostosis ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: 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 |
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: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:25706251 PMID:25741868 PMID:25741914 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:36633841 PMID:270283566 More...
|
|
NCBI chrNW_004936486:10,506,680...10,606,272
Ensembl chrNW_004936486:10,507,097...10,602,019
|
|
G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis, nonspecific |
ClinVar |
PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 PMID:9279764 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:25741868 PMID:25741914 PMID:26740388 PMID:28492532 PMID:32238909 More...
|
|
NCBI chrNW_004936477:21,591,772...21,606,289
Ensembl chrNW_004936477:21,591,792...21,606,296
|
|
G |
Flna |
filamin A |
|
ISO |
DNA:missense mutations:cds:multiple (human) |
RGD |
PMID:25873011 |
RGD:11531800 |
NCBI chrNW_004936809:1,097,288...1,123,206
Ensembl chrNW_004936809:1,097,294...1,123,201
|
|
G |
Frem1 |
FRAS1 related extracellular matrix 1 |
|
ISO |
ClinVar Annotator: match by term: Trigonocephaly |
ClinVar |
|
|
NCBI chrNW_004936539:8,338,624...8,508,031
Ensembl chrNW_004936539:8,351,159...8,508,069
|
|
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 chrNW_004936706:410,806...469,000
Ensembl chrNW_004936706:410,938...464,714
|
|
G |
Gsk3a |
glycogen synthase kinase 3 alpha |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis |
ClinVar |
PMID:23354439 PMID:26097063 PMID:28492532 PMID:28808027 |
|
NCBI chrNW_004936706:266,462...277,256
Ensembl chrNW_004936706:269,126...277,256
|
|
G |
Hes7 |
hes family bHLH transcription factor 7 |
|
ISO |
ClinVar Annotator: match by term: Brachycephaly |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936595:1,352,621...1,355,177
Ensembl chrNW_004936595:1,352,621...1,356,113
|
|
G |
Hipk4 |
homeodomain interacting protein kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,764,661...2,770,110
Ensembl chrNW_004936661:2,764,661...2,770,110
|
|
G |
Hnrnpul1 |
heterogeneous nuclear ribonucleoprotein U like 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,688,328...3,723,405
Ensembl chrNW_004936661:3,690,137...3,723,391
|
|
G |
Htra1 |
HtrA serine peptidase 1 |
|
ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
|
NCBI chrNW_004936486:11,271,130...11,317,271
Ensembl chrNW_004936486:11,271,130...11,316,739
|
|
G |
Ift122 |
intraflagellar transport 122 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20493458 |
|
NCBI chrNW_004936602:908,034...956,634
Ensembl chrNW_004936602:905,486...956,521
|
|
G |
Ikzf5 |
IKAROS family zinc finger 5 |
|
ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
|
NCBI chrNW_004936486:11,652,234...11,667,972
Ensembl chrNW_004936486:11,650,306...11,668,285
|
|
G |
Itpkc |
inositol-trisphosphate 3-kinase C |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,006,506...3,023,355
Ensembl chrNW_004936661:3,006,505...3,022,823
|
|
G |
Kat6b |
lysine acetyltransferase 6B |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
|
|
NCBI chrNW_004936521:4,309,699...4,497,755
Ensembl chrNW_004936521:4,309,694...4,496,904
|
|
G |
Leutx |
leucine twenty homeobox |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,399,154...2,406,044
|
|
G |
Lipe |
lipase E, hormone sensitive type |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:122,939...139,506
Ensembl chrNW_004936706:128,133...141,276
|
|
G |
LOC101956707 |
putative uncharacterized protein ZNRD1-AS1 |
|
ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
|
NCBI chrNW_004936723:983,824...990,082
|
|
G |
LOC101959402 |
deleted in malignant brain tumors 1 protein |
|
ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
|
NCBI chrNW_004936486:11,377,485...11,545,624
|
|
G |
LOC101972165 |
myosin-7 |
|
ISO |
ClinVar Annotator: match by term: Lambdoid synostosis |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29892087 PMID:31737537 |
|
NCBI chrNW_004936722:967,443...991,530
Ensembl chrNW_004936722:969,384...991,129
|
|
G |
Ltbp4 |
latent transforming growth factor beta binding protein 4 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,919,444...2,945,847
Ensembl chrNW_004936661:2,919,550...2,945,599
|
|
G |
Lypd4 |
LY6/PLAUR domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:591,128...593,307
|
|
G |
Map3k10 |
mitogen-activated protein kinase kinase kinase 10 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,623,356...2,638,218
|
|
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 chrNW_004936706:157,167...198,071
Ensembl chrNW_004936706:157,019...197,500
|
|
G |
Mia |
MIA SH3 domain containing |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,047,735...3,049,050
Ensembl chrNW_004936661:3,047,747...3,049,064
|
|
G |
Msx2 |
msh homeobox 2 |
|
ISO |
craniosynostosis type 2, OMIM:604757, DNA:point mutation:exon:P148H |
RGD |
PMID:8968743 |
RGD:1600491 |
NCBI chrNW_004936609:1,216,436...1,221,528
Ensembl chrNW_004936609:1,216,436...1,221,561
|
|
G |
Nell1 |
neural EGFL like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:12235118 PMID:14672347 |
RGD:633405 |
NCBI chrNW_004936654:1,591,016...2,392,496
Ensembl chrNW_004936654:1,591,847...2,394,692
|
|
G |
Nog |
noggin |
treatment |
ISO |
|
RGD |
PMID:19627528 |
RGD:8547554 |
NCBI chrNW_004936490:6,262,651...6,264,069
Ensembl chrNW_004936490:6,262,785...6,263,483
|
|
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 chrNW_004936486:10,873,690...10,889,064
Ensembl chrNW_004936486:10,873,146...10,887,346
|
|
G |
Numbl |
NUMB like endocytic adaptor protein |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,962,741...2,984,763
Ensembl chrNW_004936661:2,963,510...2,984,740
|
|
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 chrNW_004936706:212,635...215,498
Ensembl chrNW_004936706:212,096...215,497
|
|
G |
Pld3 |
phospholipase D family member 3 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,741,523...2,763,945
Ensembl chrNW_004936661:2,741,234...2,767,121
|
|
G |
Plekha1 |
pleckstrin homology domain containing A1 |
|
ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
|
NCBI chrNW_004936486:11,203,873...11,241,028
|
|
G |
Plekhg2 |
pleckstrin homology and RhoGEF domain containing G2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,257,097...2,268,301
Ensembl chrNW_004936661:2,257,068...2,268,716
|
|
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 chrNW_004936706:335,613...393,854
Ensembl chrNW_004936706:320,539...392,414
|
|
G |
Prr19 |
proline rich 19 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:209,013...210,326
Ensembl chrNW_004936706:209,083...210,247
|
|
G |
Prx |
periaxin |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,772,446...2,783,120
Ensembl chrNW_004936661:2,772,621...2,787,647
|
|
G |
Psmc4 |
proteasome 26S subunit, ATPase 4 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,522,665...2,528,279
Ensembl chrNW_004936661:2,522,615...2,528,284
|
|
G |
Pstk |
phosphoseryl-tRNA kinase |
|
ISO |
ClinVar Annotator: match by term: FGFR2-related craniosynostosis |
ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
|
NCBI chrNW_004936486:11,642,337...11,651,760
Ensembl chrNW_004936486:11,643,222...11,651,350
|
|
G |
Ptpn11 |
protein tyrosine phosphatase non-receptor type 11 |
|
ISO |
ClinVar Annotator: match by term: Brachycephaly |
ClinVar |
PMID:11992261 PMID:14644997 PMID:15539800 PMID:15723289 PMID:15987685 PMID:16358218 PMID:17020470 PMID:17339163 PMID:17361219 PMID:18372317 PMID:19020799 PMID:19737548 PMID:20308328 PMID:21706501 PMID:21901340 PMID:22315187 PMID:22488759 PMID:23584145 PMID:24033266 PMID:24628801 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 chrNW_004936668:2,602,261...2,687,903
Ensembl chrNW_004936668:2,628,706...2,682,448
|
|
G |
Rab4b |
RAB4B, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,049,802...3,059,921
Ensembl chrNW_004936661:3,049,638...3,059,963
|
|
G |
Rabac1 |
Rab acceptor 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:498,271...500,847
Ensembl chrNW_004936706:497,963...500,842
|
|
G |
Rps16 |
ribosomal protein S16 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,271,747...2,274,769
Ensembl chrNW_004936661:2,271,396...2,274,965
|
|
G |
Rps19 |
ribosomal protein S19 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:568,443...575,973
Ensembl chrNW_004936706:568,364...575,126
|
|
G |
Selenov |
selenoprotein V |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,335,170...2,338,422
|
|
G |
Sertad1 |
SERTA domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,792,501...2,793,901
Ensembl chrNW_004936661:2,792,850...2,793,590
|
|
G |
Sertad3 |
SERTA domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,801,975...2,806,095
|
|
G |
Shkbp1 |
SH3KBP1 binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,903,986...2,915,908
Ensembl chrNW_004936661:2,903,938...2,915,910
|
|
G |
Smad6 |
SMAD family member 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chrNW_004936471:26,781,420...26,856,556
Ensembl chrNW_004936471:26,781,549...26,856,571
|
|
G |
Snrpa |
small nuclear ribonucleoprotein polypeptide A |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,030,104...3,041,877
Ensembl chrNW_004936661:3,029,802...3,041,877
|
|
G |
Sptbn4 |
spectrin beta, non-erythrocytic 4 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,831,132...2,903,619
Ensembl chrNW_004936661:2,827,572...2,903,655
|
|
G |
Supt5h |
SPT5 homolog, DSIF elongation factor subunit |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,280,390...2,308,085
Ensembl chrNW_004936661:2,280,285...2,308,780
|
|
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 chrNW_004936486:10,912,307...11,100,278
|
|
G |
Tcf12 |
transcription factor 12 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23354436 |
|
NCBI chrNW_004936471:18,223,221...18,576,922
|
|
G |
Tgfb1 |
transforming growth factor beta 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272
|
|
G |
Tgfbr1 |
transforming growth factor beta receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis |
ClinVar |
PMID:25741868 PMID:31837199 |
|
NCBI chrNW_004936524:7,656,523...7,680,043
Ensembl chrNW_004936524:7,655,847...7,681,097
|
|
G |
Timm50 |
translocase of inner mitochondrial membrane 50 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,310,169...2,318,035
Ensembl chrNW_004936661:2,310,125...2,318,258
|
|
G |
Tmem145 |
transmembrane protein 145 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:198,105...206,794
Ensembl chrNW_004936706:198,339...206,739
|
|
G |
Tmem91 |
transmembrane protein 91 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,784,545...3,788,434
Ensembl chrNW_004936661:3,783,709...3,788,244
|
|
G |
Ttc9b |
tetratricopeptide repeat domain 9B |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,638,394...2,640,785
Ensembl chrNW_004936661:2,637,189...2,640,725
|
|
G |
Twist1 |
twist family bHLH transcription factor 1 |
|
ISO |
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 |
OMIM ClinVar |
PMID:1240778 PMID:8968762 PMID:8988166 PMID:8988167 PMID:9259286 PMID:9585583 PMID:9792856 PMID:10094188 PMID:10649491 PMID:10749989 PMID:11248247 PMID:11474656 PMID:11748846 PMID:11754069 PMID:11977182 PMID:11992718 PMID:12116251 PMID:12791045 PMID:14513358 PMID:15923834 PMID:16251895 PMID:16838304 PMID:17343269 PMID:17693524 PMID:18391498 PMID:19373776 PMID:19483581 PMID:19755431 PMID:19952666 PMID:20184424 PMID:20643727 PMID:21520333 PMID:21876555 PMID:22382802 PMID:22544111 PMID:22982246 PMID:24127277 PMID:25271085 PMID:25741868 PMID:25741909 PMID:26114524 PMID:27884935 PMID:28369379 PMID:28492532 PMID:29037998 PMID:29304373 PMID:30074960 PMID:30450715 PMID:30651579 PMID:31754721 PMID:31837199 PMID:33369125 PMID:33547006 PMID:33937142 More...
|
|
NCBI chrNW_004936546:5,331,220...5,332,669
Ensembl chrNW_004936546:5,331,863...5,332,555
|
|
G |
Wdr35 |
WD repeat domain 35 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20817137 |
|
NCBI chrNW_004936493:11,374,681...11,435,792
Ensembl chrNW_004936493:11,374,671...11,436,233
|
|
G |
Zic1 |
Zic family member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chrNW_004936519:7,997,824...8,001,614
Ensembl chrNW_004936519:7,994,455...8,002,487
|
|
G |
Znf526 |
zinc finger protein 526 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis |
ClinVar |
PMID:23354439 PMID:26097063 PMID:28492532 PMID:28808027 |
|
NCBI chrNW_004936706:278,730...284,232
Ensembl chrNW_004936706:280,075...282,078
|
|
G |
Znf546 |
zinc finger protein 546 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,545,011...2,564,695
Ensembl chrNW_004936661:2,544,960...2,567,691
|
|
G |
Znf574 |
zinc finger protein 574 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:401,188...406,481
Ensembl chrNW_004936706:401,447...404,140
|
|
|
G |
Msx2 |
msh homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 2 | ClinVar Annotator: match by term: Warman-Mulliken-Hayward syndrome |
OMIM ClinVar |
PMID:7597092 PMID:8106171 PMID:8357019 PMID:8968743 PMID:9256341 PMID:16319823 PMID:18786927 PMID:20301307 PMID:23918290 PMID:23949913 PMID:25741868 PMID:27013732 PMID:28492532 More...
|
|
NCBI chrNW_004936609:1,216,436...1,221,528
Ensembl chrNW_004936609:1,216,436...1,221,561
|
|
|
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: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:25741868 PMID:25741914 PMID:26740388 PMID:28492532 PMID:32238909 More...
|
|
NCBI chrNW_004936477:21,591,772...21,606,289
Ensembl chrNW_004936477:21,591,792...21,606,296
|
|
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:32620954 PMID:33547006 PMID:34906502 More...
|
|
NCBI chrNW_004936471:18,223,221...18,576,922
|
|
G |
Twist1 |
twist family bHLH transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Coronal craniosynostosis |
ClinVar |
|
|
NCBI chrNW_004936546:5,331,220...5,332,669
Ensembl chrNW_004936546:5,331,863...5,332,555
|
|
|
G |
Erf |
ETS2 repressor factor |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 4 |
OMIM ClinVar |
PMID:23354439 PMID:25741868 PMID:25741905 PMID:26097063 PMID:27738187 PMID:28492532 PMID:28808027 PMID:29215649 PMID:29758562 PMID:30758909 PMID:32370745 More...
|
|
NCBI chrNW_004936706:255,479...263,154
Ensembl chrNW_004936706:255,407...263,179
|
|
G |
LOC101972165 |
myosin-7 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 4 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29892087 PMID:31737537 |
|
NCBI chrNW_004936722:967,443...991,530
Ensembl chrNW_004936722:969,384...991,129
|
|
|
G |
Alx4 |
ALX homeobox 4 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 5, susceptibility to |
ClinVar OMIM |
PMID:22829454 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936562:4,316,550...4,326,022
Ensembl chrNW_004936562:4,314,870...4,326,000
|
|
|
G |
Zic1 |
Zic family member 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 6 |
OMIM ClinVar |
PMID:25741868 PMID:26340333 PMID:28492532 |
|
NCBI chrNW_004936519:7,997,824...8,001,614
Ensembl chrNW_004936519:7,994,455...8,002,487
|
|
|
G |
Bmp2 |
bone morphogenetic protein 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis 7 |
ClinVar |
PMID:27606499 |
|
NCBI chrNW_004936485:12,428,765...12,439,570
Ensembl chrNW_004936485:12,428,710...12,439,454
|
|
G |
Smad6 |
SMAD family member 6 |
|
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:32499606 More...
|
|
NCBI chrNW_004936471:26,781,420...26,856,556
Ensembl chrNW_004936471:26,781,549...26,856,571
|
|
|
G |
Il11ra |
interleukin 11 receptor subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis and dental anomalies |
OMIM ClinVar |
PMID:21741611 PMID:25741868 PMID:34906502 |
|
NCBI chrNW_004936524:2,732,477...2,743,044
Ensembl chrNW_004936524:2,735,507...2,742,660
|
|
|
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 chrNW_004936580:782,146...791,388
Ensembl chrNW_004936580:782,112...791,605
|
|
G |
Alg6 |
ALG6 alpha-1,3-glucosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936692:992,313...1,038,760
Ensembl chrNW_004936692:992,188...1,038,776
|
|
G |
Axin2 |
axin 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936541:7,155,963...7,242,466
Ensembl chrNW_004936541:7,211,985...7,242,470
|
|
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 chrNW_004936469:49,067,357...49,335,212
Ensembl chrNW_004936469:49,067,012...49,335,219
|
|
G |
Cnpy2 |
canopy FGF signaling regulator 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936646:715,619...719,434
Ensembl chrNW_004936646:714,375...719,431
|
|
G |
Ctnna1 |
catenin alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:31292255 |
|
NCBI chrNW_004936531:7,865,907...8,036,020
Ensembl chrNW_004936531:7,865,820...8,037,935
|
|
G |
Dhrs3 |
dehydrogenase/reductase 3 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936474:1,237,177...1,270,299
Ensembl chrNW_004936474:1,235,962...1,269,510
|
|
G |
Efcab7 |
EF-hand calcium binding domain 7 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936692:1,091,872...1,137,426
Ensembl chrNW_004936692:1,091,613...1,137,671
|
|
G |
Erf |
ETS2 repressor factor |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 PMID:31837199 |
|
NCBI chrNW_004936706:255,479...263,154
Ensembl chrNW_004936706:255,407...263,179
|
|
G |
Fbn1 |
fibrillin 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 PMID:31837199 |
|
NCBI chrNW_004936471:10,747,030...10,969,223
Ensembl chrNW_004936471:10,746,996...10,969,231
|
|
G |
Fbn2 |
fibrillin 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936504:1,535,629...1,757,386
Ensembl chrNW_004936504:1,535,624...1,757,435
|
|
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 chrNW_004936710:1,760,365...1,815,269
Ensembl chrNW_004936710:1,760,089...1,815,508
|
|
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 chrNW_004936486:10,506,680...10,606,272
Ensembl chrNW_004936486:10,507,097...10,602,019
|
|
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: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:25326635 PMID:25741868 PMID:25741914 PMID:26740388 PMID:28492532 PMID:32238909 More...
|
|
NCBI chrNW_004936477:21,591,772...21,606,289
Ensembl chrNW_004936477:21,591,792...21,606,296
|
|
G |
Foxd3 |
forkhead box D3 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936692:951,394...953,612
Ensembl chrNW_004936692:951,562...953,001
|
|
G |
Gli2 |
GLI family zinc finger 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:31292255 |
|
NCBI chrNW_004936469:49,616,552...49,788,760
Ensembl chrNW_004936469:49,617,095...49,673,213
|
|
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 chrNW_004936478:17,129,922...17,403,630
Ensembl chrNW_004936478:17,126,911...17,403,011
|
|
G |
Gpc4 |
glypican 4 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:31292255 |
|
NCBI chrNW_004936691:1,564,872...1,676,378
Ensembl chrNW_004936691:1,564,833...1,677,482
|
|
G |
Grin2b |
glutamate ionotropic receptor NMDA type subunit 2B |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936587:3,406,055...3,806,956
Ensembl chrNW_004936587:3,405,698...3,804,664
|
|
G |
Igf1r |
insulin like growth factor 1 receptor |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 PMID:31837199 |
|
NCBI chrNW_004936483:4,563,995...4,860,231
Ensembl chrNW_004936483:4,564,512...4,852,925
|
|
G |
Il11ra |
interleukin 11 receptor subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 PMID:31837199 |
|
NCBI chrNW_004936524:2,732,477...2,743,044
Ensembl chrNW_004936524:2,735,507...2,742,660
|
|
G |
Itgb3bp |
integrin subunit beta 3 binding protein |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936692:1,040,894...1,091,741
Ensembl chrNW_004936692:1,038,790...1,091,660
|
|
G |
Kat6a |
lysine acetyltransferase 6A |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 PMID:30245513 PMID:31292255 |
|
NCBI chrNW_004936785:602,754...704,504
Ensembl chrNW_004936785:603,478...701,791
|
|
G |
LOC101975674 |
cytochrome P450 26B1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 PMID:31837199 |
|
NCBI chrNW_004936491:16,010,394...16,028,852
Ensembl chrNW_004936491:16,010,070...16,028,895
|
|
G |
Man2b1 |
mannosidase alpha class 2B member 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936659:1,776,212...1,793,651
Ensembl chrNW_004936659:1,774,773...1,793,670
|
|
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 chrNW_004936706:157,167...198,071
Ensembl chrNW_004936706:157,019...197,500
|
|
G |
Msx1 |
msh homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31837199 |
|
NCBI chrNW_004936477:17,406,551...17,413,615
Ensembl chrNW_004936477:17,409,191...17,412,919
|
|
G |
Msx2 |
msh homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
|
|
NCBI chrNW_004936609:1,216,436...1,221,528
Ensembl chrNW_004936609:1,216,436...1,221,561
|
|
G |
Npr2 |
natriuretic peptide receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
|
|
NCBI chrNW_004936524:3,779,398...3,798,074
Ensembl chrNW_004936524:3,779,392...3,798,501
|
|
G |
Pgm1 |
phosphoglucomutase 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936692:1,160,836...1,221,270
Ensembl chrNW_004936692:1,160,623...1,221,746
|
|
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 chrNW_004936626:4,241,993...4,301,919
Ensembl chrNW_004936626:4,241,908...4,309,476
|
|
G |
Runx2 |
RUNX family transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936476:14,695,965...14,818,246
Ensembl chrNW_004936476:14,695,965...14,905,157
|
|
G |
Sox11 |
SRY-box transcription factor 11 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:31292255 |
|
NCBI chrNW_004937107:203,120...207,185
|
|
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 chrNW_004936619:448,304...592,981
Ensembl chrNW_004936619:448,303...593,001
|
|
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 chrNW_004936471:18,223,221...18,576,922
|
|
G |
Tfap2b |
transcription factor AP-2 beta |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:31292255 |
|
NCBI chrNW_004936476:9,855,992...9,884,788
Ensembl chrNW_004936476:9,857,773...9,884,784
|
|
G |
Tgfbr1 |
transforming growth factor beta receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 PMID:31837199 |
|
NCBI chrNW_004936524:7,656,523...7,680,043
Ensembl chrNW_004936524:7,655,847...7,681,097
|
|
G |
Trps1 |
transcriptional repressor GATA binding 1 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
|
|
NCBI chrNW_004936470:30,475,779...30,666,546
Ensembl chrNW_004936470:30,432,625...30,665,091
|
|
G |
Wdr19 |
WD repeat domain 19 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31837199 |
|
NCBI chrNW_004936482:6,863,592...6,937,810
Ensembl chrNW_004936482:6,863,571...6,937,979
|
|
G |
Znf462 |
zinc finger protein 462 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis syndrome |
ClinVar |
PMID:28513610 |
|
NCBI chrNW_004936559:5,510,933...5,644,727
Ensembl chrNW_004936559:5,510,892...5,596,528
|
|
|
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:22736615 PMID:22871183 PMID:24033266 PMID:25741868 PMID:25975359 PMID:28492532 PMID:28642162 PMID:35378950 More...
|
|
NCBI chrNW_004936580:782,146...791,388
Ensembl chrNW_004936580:782,112...791,605
|
|
|
G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO |
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 ClinVar |
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:25741909 PMID:25741914 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 More...
|
|
NCBI chrNW_004936486:10,506,680...10,606,272
Ensembl chrNW_004936486:10,507,097...10,602,019
|
|
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: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:25741868 PMID:25741914 PMID:26740388 PMID:28492532 PMID:32238909 More...
|
|
NCBI chrNW_004936477:21,591,772...21,606,289
Ensembl chrNW_004936477:21,591,792...21,606,296
|
|
G |
Tcof1 |
treacle ribosome biogenesis factor 1 |
|
ISO |
ClinVar Annotator: match by term: Crouzon syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936504:4,533,993...4,569,997
Ensembl chrNW_004936504:4,533,981...4,570,055
|
|
|
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 |
OMIM ClinVar |
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: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:25326635 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25741914 PMID:25741916 PMID:25809207 PMID:26619011 PMID:26740388 PMID:26818779 PMID:28230213 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29681095 PMID:30138938 PMID:30692697 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:33942288 More...
|
|
NCBI chrNW_004936477:21,591,772...21,606,289
Ensembl chrNW_004936477:21,591,792...21,606,296
|
|
|
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 chrNW_004936751:1,350,542...1,355,449
Ensembl chrNW_004936751:1,350,481...1,358,110
|
|
|
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 chrNW_004936646:452,371...454,787
Ensembl chrNW_004936646:452,128...457,428
|
|
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 chrNW_004936588:5,154,614...5,155,522
Ensembl chrNW_004936588:5,154,615...5,155,522
|
|
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 chrNW_004936751:1,350,542...1,355,449
Ensembl chrNW_004936751:1,350,481...1,358,110
|
|
|
G |
LOC101974020 |
myosin-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 chrNW_004936595:3,484,323...3,507,227
Ensembl chrNW_004936595:3,484,330...3,507,191
|
|
|
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 chrNW_004936903:381,383...398,339
Ensembl chrNW_004936903:381,424...398,350
|
|
|
G |
Ckap2l |
cytoskeleton associated protein 2 like |
|
ISO |
ClinVar Annotator: match by term: Filippi syndrome |
OMIM ClinVar |
PMID:8867657 PMID:15365457 PMID:18553552 PMID:25439729 PMID:25741868 PMID:28492532 More...
|
|
NCBI chrNW_004936783:1,175,044...1,194,407
Ensembl chrNW_004936783:1,173,627...1,193,813
|
|
G |
Nt5dc4 |
5'-nucleotidase domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Filippi syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936783:1,162,977...1,170,876
|
|
|
G |
Hdlbp |
high density lipoprotein binding protein |
|
ISO |
ClinVar Annotator: match by term: Fine-Lubinsky syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936745:555,020...608,572
Ensembl chrNW_004936745:555,710...607,135
|
|
G |
LOC101965545 |
NADPH--cytochrome P450 reductase |
|
ISO |
ClinVar Annotator: match by term: Fine-Lubinsky syndrome |
ClinVar |
PMID:22162478 PMID:25741868 |
|
NCBI chrNW_004936543:2,275,981...2,327,931
Ensembl chrNW_004936543:2,274,059...2,328,008
|
|
G |
Slc39a13 |
solute carrier family 39 member 13 |
|
ISO |
ClinVar Annotator: match by term: Fine-Lubinsky syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936562:1,811,479...1,825,857
Ensembl chrNW_004936562:1,816,049...1,825,892
|
|
|
G |
Fras1 |
Fraser extracellular matrix complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Cryptophthalmos with other malformations |
ClinVar |
PMID:12766769 PMID:16199547 PMID:18671281 PMID:25741868 PMID:28492532 PMID:28844315 PMID:34246755 More...
|
|
NCBI chrNW_004936676:1,870,856...2,138,832
Ensembl chrNW_004936676:1,870,814...2,135,823
|
|
G |
Frem1 |
FRAS1 related extracellular matrix 1 |
|
ISO |
OMIM:219000 |
MouseDO |
|
|
NCBI chrNW_004936539:8,338,624...8,508,031
Ensembl chrNW_004936539:8,351,159...8,508,069
|
|
G |
Frem2 |
FRAS1 related extracellular matrix 2 |
|
ISO |
ClinVar Annotator: match by term: Cryptophthalmos with other malformations |
ClinVar |
PMID:18203166 PMID:25741868 PMID:26552811 PMID:28492532 |
|
NCBI chrNW_004936565:6,671,578...6,837,514
Ensembl chrNW_004936565:6,671,737...6,837,514
|
|
G |
Grip1 |
glutamate receptor interacting protein 1 |
|
ISO |
OMIM:219000 |
MouseDO |
|
|
NCBI chrNW_004936545:4,353,056...4,606,196
Ensembl chrNW_004936545:4,353,040...5,002,725
|
|
|
G |
Fras1 |
Fraser extracellular matrix complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: FRAS1-related condition | ClinVar Annotator: match by term: Fraser syndrome 1 |
OMIM ClinVar |
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 More...
|
|
NCBI chrNW_004936676:1,870,856...2,138,832
Ensembl chrNW_004936676:1,870,814...2,135,823
|
|
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 chrNW_004936565:6,671,578...6,837,514
Ensembl chrNW_004936565:6,671,737...6,837,514
|
|
G |
Grip1 |
glutamate receptor interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936545:4,353,056...4,606,196
Ensembl chrNW_004936545:4,353,040...5,002,725
|
|
|
G |
Frem2 |
FRAS1 related extracellular matrix 2 |
|
ISO |
ClinVar Annotator: match by term: FREM2-related condition | ClinVar Annotator: match by term: Fraser syndrome 2 |
OMIM ClinVar |
PMID:15838507 PMID:18203166 PMID:18671281 PMID:24115501 PMID:24700879 PMID:25741868 PMID:25741913 PMID:26275891 PMID:26489029 PMID:26552811 PMID:28492532 PMID:29618029 PMID:29688405 PMID:30143558 PMID:30773290 PMID:30802441 PMID:30838450 PMID:34837691 PMID:36360262 More...
|
|
NCBI chrNW_004936565:6,671,578...6,837,514
Ensembl chrNW_004936565:6,671,737...6,837,514
|
|
|
G |
Adamts14 |
ADAM metallopeptidase with thrombospondin type 1 motif 14 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
|
|
NCBI chrNW_004936521:7,951,176...8,025,666
Ensembl chrNW_004936521:7,952,365...8,025,614
|
|
G |
Aipl1 |
aryl hydrocarbon receptor interacting protein like 1 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:24426771 PMID:28492532 |
|
NCBI chrNW_004936677:1,539,502...1,548,343
Ensembl chrNW_004936677:1,538,874...1,548,010
|
|
G |
Aspa |
aspartoacylase |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936677:219,459...232,545
|
|
G |
Bclaf1 |
BCL2 associated transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
|
|
NCBI chrNW_004936560:3,681,145...3,711,831
Ensembl chrNW_004936560:3,680,657...3,712,004
|
|
G |
Borcs6 |
BLOC-1 related complex subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
|
|
NCBI chrNW_004936595:1,417,718...1,420,480
Ensembl chrNW_004936595:1,418,435...1,419,511
|
|
G |
Gnb5 |
G protein subunit beta 5 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
|
|
NCBI chrNW_004936471:13,952,462...14,001,663
Ensembl chrNW_004936471:13,955,991...13,997,073
|
|
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:25741868 PMID:26539891 PMID:28492532 More...
|
|
NCBI chrNW_004936545:4,353,056...4,606,196
Ensembl chrNW_004936545:4,353,040...5,002,725
|
|
G |
Lsm10 |
LSM10, U7 small nuclear RNA associated |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
|
|
NCBI chrNW_004936474:18,822,317...18,825,158
Ensembl chrNW_004936474:18,822,327...18,825,114
|
|
G |
Med23 |
mediator complex subunit 23 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
|
|
NCBI chrNW_004937067:14...41,438
Ensembl chrNW_004937067:849...41,298
|
|
G |
Mpc1 |
mitochondrial pyruvate carrier 1 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
|
|
NCBI chrNW_004936489:16,179,321...16,181,991
Ensembl chrNW_004936489:16,179,810...16,184,020
|
|
G |
Myo18b |
myosin XVIIIB |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936657:551,535...764,247
|
|
G |
Odad1 |
outer dynein arm docking complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936664:2,439,434...2,464,878
Ensembl chrNW_004936664:2,439,426...2,465,094
|
|
G |
Ptch1 |
patched 1 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936626:4,241,993...4,301,919
Ensembl chrNW_004936626:4,241,908...4,309,476
|
|
G |
Spata22 |
spermatogenesis associated 22 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936677:167,324...197,860
Ensembl chrNW_004936677:167,324...196,188
|
|
G |
Tlcd3a |
TLC domain containing 3A |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
|
|
NCBI chrNW_004936538:7,038,799...7,049,428
Ensembl chrNW_004936538:7,041,973...7,049,432
|
|
G |
Wdr81 |
WD repeat domain 81 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
|
|
NCBI chrNW_004936538:7,856,263...7,868,249
Ensembl chrNW_004936538:7,856,185...7,868,259
|
|
|
G |
LOC101974020 |
myosin-3 |
|
ISO |
ClinVar Annotator: match by term: Craniocarpotarsal dysplasia | ClinVar Annotator: match by term: Freeman-Sheldon syndrome |
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 chrNW_004936595:3,484,323...3,507,227
Ensembl chrNW_004936595:3,484,330...3,507,191
|
|
|
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 chrNW_004936562:4,316,550...4,326,022
Ensembl chrNW_004936562:4,314,870...4,326,000
|
|
|
G |
Alg9 |
ALG9 alpha-1,2-mannosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Gillessen-Kaesbach-Nishimura syndrome |
OMIM ClinVar |
PMID:25741868 PMID:25966638 PMID:26467025 PMID:27391121 PMID:28492532 PMID:31395617 More...
|
|
NCBI chrNW_004936612:2,554,158...2,661,896
Ensembl chrNW_004936612:2,554,226...2,650,037
|
|
|
G |
Foxi3 |
forkhead box I3 |
|
ISO |
ClinVar Annotator: match by term: Craniofacial microsomia | ClinVar Annotator: match by term: Hemifacial microsomia |
ClinVar |
PMID:28492532 PMID:36260083 PMID:37041148 |
|
NCBI chrNW_004936712:517,566...522,709
Ensembl chrNW_004936712:517,562...522,925
|
|
G |
Frk |
fyn related Src family tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Hemifacial microsomia |
ClinVar |
|
|
NCBI chrNW_004936824:575,618...677,775
Ensembl chrNW_004936824:575,642...678,129
|
|
G |
Pax1 |
paired box 1 |
|
ISO |
ClinVar Annotator: match by term: Craniofacial microsomia |
ClinVar |
|
|
NCBI chrNW_004936620:3,765,481...3,773,779
Ensembl chrNW_004936620:3,765,444...3,776,467
|
|
G |
Sf3b2 |
splicing factor 3b subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Hemifacial microsomia |
OMIM ClinVar |
PMID:7811205 PMID:34344887 |
|
NCBI chrNW_004936599:3,477,882...3,494,366
Ensembl chrNW_004936599:3,477,589...3,494,354
|
|
G |
Zic3 |
Zic family member 3 |
|
ISO |
OMIM:164210 |
MouseDO |
|
|
NCBI chrNW_004936513:9,780,895...9,792,865
Ensembl chrNW_004936513:9,786,709...9,793,077
|
|
G |
Zyg11b |
zyg-11 family member B, cell cycle regulator |
|
ISO |
ClinVar Annotator: match by term: Hemifacial microsomia |
ClinVar |
PMID:25741868 PMID:32738032 |
|
NCBI chrNW_004936522:8,197,557...8,266,061
Ensembl chrNW_004936522:8,198,098...8,266,109
|
|
|
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 chrNW_004936478:15,296,055...15,387,749
Ensembl chrNW_004936478:15,296,055...15,388,309
|
|
G |
Gli3 |
GLI family zinc finger 3 |
|
ISO |
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 ClinVar |
PMID:1879832 PMID:6641002 PMID:9302279 PMID:9536098 PMID:10441342 PMID:10441570 PMID:10678662 PMID:12414818 PMID:12794692 PMID:15739154 PMID:15811011 PMID:16199547 PMID:16740916 PMID:17576681 PMID:18000979 PMID:20583172 PMID:20672375 PMID:22903559 PMID:24736735 PMID:25606469 PMID:25640679 PMID:25741868 PMID:25741909 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 More...
|
|
NCBI chrNW_004936478:17,129,922...17,403,630
Ensembl chrNW_004936478:17,126,911...17,403,011
|
|
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 chrNW_004936478:16,878,725...16,884,065
|
|
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 chrNW_004936478:15,421,612...15,423,894
Ensembl chrNW_004936478:15,420,463...15,423,946
|
|
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 chrNW_004936478:15,167,651...15,186,594
Ensembl chrNW_004936478:15,167,751...15,186,633
|
|
G |
Sugct |
succinyl-CoA: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 chrNW_004936478:15,424,010...16,102,401
Ensembl chrNW_004936478:15,424,041...16,102,024
|
|
|
G |
Tbx4 |
T-box transcription factor 4 |
|
ISO |
ClinVar Annotator: match by term: Coxopodopatellar syndrome | ClinVar Annotator: match by term: TBX4-related condition |
OMIM ClinVar |
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 chrNW_004936490:2,823,531...2,853,282
Ensembl chrNW_004936490:2,827,416...2,852,917
|
|
|
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 |
OMIM ClinVar |
PMID:1456217 PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 PMID:11173846 PMID:14513299 PMID:14564217 PMID:14613973 PMID:15793702 PMID:16957473 PMID:18034870 PMID:23812909 PMID:24127277 PMID:24497711 PMID:25251565 PMID:25741868 PMID:26942290 PMID:28492532 PMID:31837199 More...
|
|
NCBI chrNW_004936710:1,760,365...1,815,269
Ensembl chrNW_004936710:1,760,089...1,815,508
|
|
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 |
OMIM ClinVar |
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:25741914 PMID:25759925 PMID:25867380 PMID:25937001 PMID:26362256 PMID:26380986 PMID:26467025 PMID:26619011 PMID:27079505 PMID:27481450 PMID:28492532 PMID:31145570 More...
|
|
NCBI chrNW_004936486:10,506,680...10,606,272
Ensembl chrNW_004936486:10,507,097...10,602,019
|
|
|
G |
Fgf10 |
fibroblast growth factor 10 |
|
ISO |
ClinVar Annotator: match by term: Levy-Hollister syndrome |
ClinVar |
PMID:16630169 PMID:17213838 PMID:25741868 PMID:26955834 PMID:28492532 |
|
NCBI chrNW_004936480:18,114,231...18,195,884
Ensembl chrNW_004936480:18,114,204...18,195,898
|
|
G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO |
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 More...
|
|
NCBI chrNW_004936486:10,506,680...10,606,272
Ensembl chrNW_004936486:10,507,097...10,602,019
|
|
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: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:16501574 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:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25741914 PMID:25741916 PMID:25809207 PMID:26619011 PMID:26740388 PMID:26818779 PMID:28230213 PMID:28483234 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29681095 PMID:30138938 PMID:30692697 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:32715658 PMID:33942288 More...
|
|
NCBI chrNW_004936477:21,591,772...21,606,289
Ensembl chrNW_004936477:21,591,792...21,606,296
|
|
|
G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 2 |
OMIM ClinVar |
|
|
NCBI chrNW_004936477:21,591,772...21,606,289
Ensembl chrNW_004936477:21,591,792...21,606,296
|
|
|
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 chrNW_004936480:18,114,231...18,195,884
Ensembl chrNW_004936480:18,114,204...18,195,898
|
|
|
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 chrNW_004936480:18,114,231...18,195,884
Ensembl chrNW_004936480:18,114,204...18,195,898
|
|
G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO |
ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome |
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 More...
|
|
NCBI chrNW_004936486:10,506,680...10,606,272
Ensembl chrNW_004936486:10,507,097...10,602,019
|
|
G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
ISO |
ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome |
ClinVar |
PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589699 PMID:8640234 PMID:8673103 PMID:8723106 PMID:8841188 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 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:16501574 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:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25741914 PMID:25741916 PMID:25809207 PMID:26619011 PMID:26740388 PMID:26818779 PMID:28230213 PMID:28483234 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29681095 PMID:30138938 PMID:30692697 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:32715658 PMID:33942288 More...
|
|
NCBI chrNW_004936477:21,591,772...21,606,289
Ensembl chrNW_004936477:21,591,792...21,606,296
|
|
|
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 chrNW_004936506:8,886,494...8,923,921
Ensembl chrNW_004936506:8,886,494...8,923,930
|
|
G |
Col5a1 |
collagen type V alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936669:2,474,381...2,613,541
Ensembl chrNW_004936669:2,476,818...2,580,891
|
|
G |
Col5a2 |
collagen type V alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome |
ClinVar |
|
|
NCBI chrNW_004936506:8,739,475...8,873,073
Ensembl chrNW_004936506:8,822,517...8,870,836
|
|
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:26796135 PMID:27914124 PMID:28492532 More...
|
|
NCBI chrNW_004936471:10,747,030...10,969,223
Ensembl chrNW_004936471:10,746,996...10,969,231
|
|
G |
Fbn2 |
fibrillin 2 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936504:1,535,629...1,757,386
Ensembl chrNW_004936504:1,535,624...1,757,435
|
|
G |
Myh11 |
myosin heavy chain 11 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome |
ClinVar |
PMID:7923625 PMID:10199307 PMID:10854329 PMID:14722581 PMID:16444274 PMID:17666408 PMID:17956658 PMID:20734336 PMID:22511748 PMID:22968129 PMID:24033266 PMID:24337657 PMID:24676022 PMID:25407000 PMID:25424711 PMID:25433566 PMID:25741868 PMID:26017485 PMID:26332594 PMID:26792327 PMID:27418595 PMID:27879251 PMID:28492532 PMID:29494672 PMID:29961567 More...
|
|
NCBI chrNW_004936501:3,223,057...3,313,487
Ensembl chrNW_004936501:3,222,300...3,313,610
|
|
G |
Mylk |
myosin light chain kinase |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936725:1,418,930...1,594,697
Ensembl chrNW_004936725:1,424,130...1,592,840
|
|
G |
Smad3 |
SMAD family member 3 |
|
ISO |
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 |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21217753 PMID:21778426 PMID:24033266 PMID:24711937 PMID:24804794 PMID:25644172 PMID:25741868 PMID:28492532 PMID:29392890 PMID:30661052 PMID:30787465 PMID:31085000 PMID:31915033 More...
|
|
NCBI chrNW_004936471:27,080,662...27,185,861
Ensembl chrNW_004936471:27,080,575...27,189,793
|
|
G |
Tgfb2 |
transforming growth factor beta 2 |
|
ISO |
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome |
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:24465802 PMID:24577266 PMID:25644172 PMID:25741868 PMID:26017485 PMID:26854089 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:32307099 PMID:35205249 More...
|
|
NCBI chrNW_004936628:310,720...394,002
Ensembl chrNW_004936628:308,691...394,007
|
|
G |
Tgfb3 |
transforming growth factor beta 3 |
|
ISO |
ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936488:4,986,712...5,008,728
Ensembl chrNW_004936488:4,986,748...5,008,496
|
|
G |
Tgfbr1 |
transforming growth factor beta receptor 1 |
|
ISO |
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 |
ClinVar |
PMID:2511639 PMID:2647812 PMID:15731757 PMID:16596670 PMID:16791849 PMID:16799921 PMID:16928994 PMID:17652900 PMID:18455604 PMID:18781618 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:25326637 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:27879313 PMID:28152038 PMID:28209770 PMID:28492532 PMID:28550590 PMID:28655553 PMID:29192238 PMID:29706644 PMID:29907982 PMID:30219046 PMID:30701076 PMID:30739908 PMID:31624717 PMID:31915033 PMID:32339686 PMID:33436942 PMID:33824467 PMID:36237225 More...
|
|
NCBI chrNW_004936524:7,656,523...7,680,043
Ensembl chrNW_004936524:7,655,847...7,681,097
|
|
G |
Tgfbr2 |
transforming growth factor beta receptor 2 |
|
ISO |
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 |
ClinVar |
PMID:8246946 PMID:9395234 PMID:9536098 PMID:9590282 PMID:9771922 PMID:9927040 PMID:11212236 PMID:12202987 PMID:12825850 PMID:15235604 PMID:15731757 PMID:16249459 PMID:16251899 PMID:16283890 PMID:16791849 PMID:16799921 PMID:16835936 PMID:16928994 PMID:17061023 PMID:17319955 PMID:17330129 PMID:17344846 PMID:17345643 PMID:17470566 PMID:17576681 PMID:17652900 PMID:17935258 PMID:18084123 PMID:18781618 PMID:18852674 PMID:19006214 PMID:19875893 PMID:19996017 PMID:20144264 PMID:20628007 PMID:20956634 PMID:21098638 PMID:21251594 PMID:21267002 PMID:21270064 PMID:21484991 PMID:21524434 PMID:22095581 PMID:22113417 PMID:22259224 PMID:22488992 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:28182693 PMID:28225382 PMID:28344185 PMID:28492532 PMID:28659821 PMID:28991257 PMID:29168297 PMID:29543232 PMID:29907982 PMID:30158670 PMID:30739908 PMID:32152251 PMID:32560555 PMID:32887874 More...
|
|
NCBI chrNW_004936473:21,324,669...21,409,430
Ensembl chrNW_004936473:21,324,658...21,409,430
|
|
|
G |
Tgfbr1 |
transforming growth factor beta receptor 1 |
susceptibility |
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: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: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:27879313 PMID:28209770 PMID:28492532 PMID:28550590 PMID:28655553 PMID:29192238 PMID:29706644 PMID:29907982 PMID:30219046 PMID:30701076 PMID:30739908 PMID:31915033 PMID:32339686 PMID:33436942 PMID:33824467 PMID:34270679 PMID:36237225 More...
|
|
NCBI chrNW_004936524:7,656,523...7,680,043
Ensembl chrNW_004936524:7,655,847...7,681,097
|
|
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:30739908 PMID:32152251 More...
|
|
NCBI chrNW_004936473:21,324,669...21,409,430
Ensembl chrNW_004936473:21,324,658...21,409,430
|
|
|
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 |
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:37684520 More...
|
|
NCBI chrNW_004936471:10,747,030...10,969,223
Ensembl chrNW_004936471:10,746,996...10,969,231
|
|
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: 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:21267002 PMID:21270064 PMID:21324918 PMID:21484991 PMID:21524434 PMID:22095581 PMID:22113417 PMID:22259224 PMID:22488992 PMID:22772368 PMID:23103230 PMID:23228659 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:27100340 PMID:27112580 PMID:27139629 PMID:27508510 PMID:27611364 PMID:27879313 PMID:27930701 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:30341550 PMID:30675401 PMID:30701076 PMID:31098894 PMID:31769227 PMID:31915033 PMID:32420711 PMID:32528524 PMID:32897753 PMID:33083483 PMID:33391346 PMID:33726816 PMID:33824467 PMID:34008892 PMID:34958866 PMID:35535697 PMID:35727495 More...
|
|
NCBI chrNW_004936473:21,324,669...21,409,430
Ensembl chrNW_004936473:21,324,658...21,409,430
|
|
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 chrNW_004936492:14,972,391...15,000,115
Ensembl chrNW_004936492:14,971,968...15,000,060
|
|
|
G |
Smad3 |
SMAD family member 3 |
|
ISO |
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:15350224 PMID:16828225 PMID:17725494 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:25944730 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:31329162 PMID:31915033 PMID:32154675 PMID:33059708 PMID:33125268 PMID:36495030 More...
|
|
NCBI chrNW_004936471:27,080,662...27,185,861
Ensembl chrNW_004936471:27,080,575...27,189,793
|
|
G |
Smad6 |
SMAD family member 6 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 |
ClinVar |
PMID:28492532 PMID:30796334 |
|
NCBI chrNW_004936471:26,781,420...26,856,556
Ensembl chrNW_004936471:26,781,549...26,856,571
|
|
|
G |
Bpnt1 |
3'(2'), 5'-bisphosphate nucleotidase 1 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chrNW_004936650:2,113,933...2,138,487
Ensembl chrNW_004936650:2,113,649...2,138,934
|
|
G |
Brox |
BRO1 domain and CAAX motif containing |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chrNW_004936526:6,185...30,108
Ensembl chrNW_004936526:6,496...30,743
|
|
G |
CUNH1orf115 |
chromosome unknown C1orf115 homolog |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chrNW_004936650:1,575,098...1,586,515
Ensembl chrNW_004936650:1,575,083...1,586,548
|
|
G |
Disp1 |
dispatched RND transporter family member 1 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chrNW_004936526:111,742...303,381
Ensembl chrNW_004936526:86,854...303,290
|
|
G |
Dusp10 |
dual specificity phosphatase 10 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chrNW_004936650:679,650...718,867
Ensembl chrNW_004936650:679,647...720,038
|
|
G |
Eprs1 |
glutamyl-prolyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chrNW_004936650:2,145,614...2,219,812
Ensembl chrNW_004936650:2,145,607...2,220,019
|
|
G |
Esrrg |
estrogen related receptor gamma |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chrNW_004936628:1,635,161...2,058,198
Ensembl chrNW_004936628:1,830,881...2,058,269
|
|
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 chrNW_004936526:38,604...41,478
|
|
G |
Gpatch2 |
G-patch domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chrNW_004936628:1,006,216...1,181,124
Ensembl chrNW_004936628:1,006,188...1,180,885
|
|
G |
Hhipl2 |
HHIP like 2 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chrNW_004936650:10,986...33,985
Ensembl chrNW_004936650:11,042...33,985
|
|
G |
Hlx |
H2.0 like homeobox |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chrNW_004936650:1,416,825...1,422,595
Ensembl chrNW_004936650:1,416,812...1,422,588
|
|
G |
Iars2 |
isoleucyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chrNW_004936650:2,056,921...2,112,487
Ensembl chrNW_004936650:2,056,921...2,112,767
|
|
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 chrNW_004936628:3,155,261...3,284,375
Ensembl chrNW_004936628:3,154,109...3,345,660
|
|
G |
Kctd3 |
potassium channel tetramerization domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chrNW_004936628:2,862,536...2,912,784
Ensembl chrNW_004936628:2,862,617...2,912,790
|
|
G |
Lyplal1 |
lysophospholipase like 1 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chrNW_004936650:2,933,661...2,960,558
Ensembl chrNW_004936650:2,933,306...2,960,846
|
|
G |
Mark1 |
microtubule affinity regulating kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chrNW_004936650:1,607,480...1,672,591
Ensembl chrNW_004936650:1,605,487...1,667,297
|
|
G |
Mtarc1 |
mitochondrial amidoxime reducing component 1 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chrNW_004936650:1,477,138...1,504,501
Ensembl chrNW_004936650:1,478,037...1,504,611
|
|
G |
Mtarc2 |
mitochondrial amidoxime reducing component 2 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chrNW_004936650:1,506,471...1,543,532
Ensembl chrNW_004936650:1,506,329...1,543,712
|
|
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 chrNW_004936650:1,944,291...2,054,847
Ensembl chrNW_004936650:1,944,346...2,056,665
|
|
G |
Rrp15 |
ribosomal RNA processing 15 homolog |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chrNW_004936628:408,854...456,464
Ensembl chrNW_004936628:408,911...456,425
|
|
G |
Spata17 |
spermatogenesis associated 17 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chrNW_004936628:813,437...1,006,000
|
|
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 chrNW_004936650:7...6,758
|
|
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:33418956 PMID:34008892 PMID:35205249 More...
|
|
NCBI chrNW_004936628:310,720...394,002
Ensembl chrNW_004936628:308,691...394,007
|
|
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 chrNW_004936488:4,986,712...5,008,728
Ensembl chrNW_004936488:4,986,748...5,008,496
|
|
G |
Ush2a |
usherin |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 |
ClinVar |
PMID:22772368 PMID:28544325 |
|
NCBI chrNW_004936628:2,123,917...2,859,958
Ensembl chrNW_004936628:2,123,957...2,858,872
|
|
|
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:24238504 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:36973604 More...
|
|
NCBI chrNW_004936488:4,986,712...5,008,728
Ensembl chrNW_004936488:4,986,748...5,008,496
|
|
|
G |
Smad2 |
SMAD family member 2 |
|
ISO |
ClinVar Annotator: match by term: Loeys-Dietz syndrome 6 | ClinVar Annotator: match by term: SMAD2-related condition |
OMIM ClinVar |
PMID:15210694 PMID:25741868 PMID:26247899 PMID:28283438 PMID:28492532 PMID:29392890 PMID:29967133 PMID:30157302 PMID:34655614 More...
|
|
NCBI chrNW_004936497:14,723,199...14,812,160
Ensembl chrNW_004936497:14,723,199...14,801,697
|
|
|
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:21267002 PMID:21270064 PMID:21324918 PMID:21484991 PMID:21524434 PMID:22095581 PMID:22113417 PMID:22259224 PMID:22488992 PMID:22772368 PMID:23103230 PMID:23228659 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:27100340 PMID:27112580 PMID:27139629 PMID:27508510 PMID:27611364 PMID:27879313 PMID:27930701 PMID:28225382 PMID:28492532 PMID:28659821 PMID:28679693 PMID:29168297 PMID:29339704 PMID:29543232 PMID:29907982 PMID:30056620 PMID:30158670 PMID:30341550 PMID:30675401 PMID:30701076 PMID:31098894 PMID:31769227 PMID:31915033 PMID:32420711 PMID:32528524 PMID:32897753 PMID:33083483 PMID:33391346 PMID:33726816 PMID:33824467 PMID:34958866 PMID:35535697 PMID:35727495 More...
|
|
NCBI chrNW_004936473:21,324,669...21,409,430
Ensembl chrNW_004936473:21,324,658...21,409,430
|
|
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 chrNW_004936492:14,972,391...15,000,115
Ensembl chrNW_004936492:14,971,968...15,000,060
|
|
|
G |
Eftud2 |
elongation factor Tu GTP binding domain containing 2 |
|
ISO |
DNA:mutations:multiple (human) |
RGD |
PMID:23188108 |
RGD:10045556 |
NCBI chrNW_004936541:1,216,584...1,259,355
Ensembl chrNW_004936541:1,217,138...1,257,935
|
|
G |
LOC101959095 |
RNA polymerase I and III subunit D |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21131976 |
|
NCBI chrNW_004936472:22,841,094...22,842,798
Ensembl chrNW_004936472:22,841,094...22,881,713
|
|
G |
Polr1b |
RNA polymerase I subunit B |
|
ISO |
ClinVar Annotator: match by term: Treacher Collins-Franceschetti syndrome |
ClinVar |
PMID:25741868 PMID:31649276 |
|
NCBI chrNW_004936783:1,034,097...1,055,798
Ensembl chrNW_004936783:1,034,054...1,056,384
|
|
G |
Polr1c |
RNA polymerase I and III subunit C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21131976 |
|
NCBI chrNW_004936476:16,483,203...16,487,360
Ensembl chrNW_004936476:16,480,835...16,487,424
|
|
G |
Tcof1 |
treacle ribosome biogenesis factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16938878 |
|
NCBI chrNW_004936504:4,533,993...4,569,997
Ensembl chrNW_004936504:4,533,981...4,570,055
|
|
|
G |
Ednra |
endothelin receptor type A |
|
ISO |
ClinVar Annotator: match by term: Mandibulofacial dysostosis with alopecia |
OMIM ClinVar |
PMID:16116593 PMID:20583178 PMID:25741868 PMID:25772936 PMID:28492532 |
|
NCBI chrNW_004936535:1,950,117...2,005,786
Ensembl chrNW_004936535:1,949,941...2,005,910
|
|
|
G |
Abca4 |
ATP binding cassette subfamily A member 4 |
|
ISO |
ClinVar Annotator: match by term: Mandibulofacial dysostosis with mental deficiency |
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:36909829 More...
|
|
NCBI chrNW_004936537:4,969,456...5,326,682
Ensembl chrNW_004936537:5,202,093...5,323,527
|
|
|
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 |
OMIM ClinVar |
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:25741905 PMID:26507355 PMID:28492532 PMID:28708303 PMID:32333448 PMID:32410215 PMID:36135330 More...
|
|
NCBI chrNW_004936541:1,216,584...1,259,355
Ensembl chrNW_004936541:1,217,138...1,257,935
|
|
|
G |
Bhlha9 |
basic helix-loop-helix family member a9 |
|
ISO |
ClinVar Annotator: match by term: Mesoaxial synostotic syndactyly with phalangeal reduction |
OMIM ClinVar |
PMID:9783716 PMID:15039974 PMID:25466284 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936538:6,558,044...6,559,193
|
|
|
G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Muenke syndrome | ClinVar Annotator: match by term: Syndrome of coronal craniosynostosis |
OMIM 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: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:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25741914 PMID:25741916 PMID:25809207 PMID:26619011 PMID:26740388 PMID:26818779 PMID:28230213 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29681095 PMID:30138938 PMID:30692697 PMID:31218223 PMID:31299979 PMID:31976144 PMID:31994750 PMID:32238909 PMID:32502767 PMID:33942288 More...
|
|
NCBI chrNW_004936477:21,591,772...21,606,289
Ensembl chrNW_004936477:21,591,792...21,606,296
|
|
|
G |
Fgf9 |
fibroblast growth factor 9 |
|
ISO |
OMIM:186500 | OMIM:610017 | OMIM:612961 |
MouseDO |
|
|
NCBI chrNW_004936720:282,291...316,629
Ensembl chrNW_004936720:279,521...316,674
|
|
G |
Gdf5 |
growth differentiation factor 5 |
|
ISO |
OMIM:186500 | OMIM:610017 | OMIM:612961 |
MouseDO |
|
|
NCBI chrNW_004936561:5,343,038...5,347,721
Ensembl chrNW_004936561:5,343,038...5,347,721
|
|
|
G |
Fgf9 |
fibroblast growth factor 9 |
|
ISO |
ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome |
ClinVar |
|
|
NCBI chrNW_004936720:282,291...316,629
Ensembl chrNW_004936720:279,521...316,674
|
|
G |
Gdf5 |
growth differentiation factor 5 |
|
ISO |
ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome |
ClinVar |
|
|
NCBI chrNW_004936561:5,343,038...5,347,721
Ensembl chrNW_004936561:5,343,038...5,347,721
|
|
G |
Nog |
noggin |
|
ISO |
ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome |
OMIM ClinVar |
PMID:3667255 PMID:6638061 PMID:10080184 PMID:11846737 PMID:15770128 PMID:16532400 PMID:17609215 PMID:20503332 PMID:25741868 More...
|
|
NCBI chrNW_004936490:6,262,651...6,264,069
Ensembl chrNW_004936490:6,262,785...6,263,483
|
|
|
G |
Gdf5 |
growth differentiation factor 5 |
|
ISO |
ClinVar Annotator: match by term: Multiple synostoses syndrome 2 |
OMIM ClinVar |
PMID:9024575 PMID:9288091 PMID:16127465 PMID:16532400 PMID:17384641 PMID:18203755 PMID:25741868 PMID:28492532 More...
|
|
NCBI chrNW_004936561:5,343,038...5,347,721
Ensembl chrNW_004936561:5,343,038...5,347,721
|
|
|
G |
Fgf9 |
fibroblast growth factor 9 |
|
ISO |
ClinVar Annotator: match by term: Multiple synostoses syndrome 3 |
OMIM ClinVar |
PMID:19589401 PMID:25741868 PMID:28492532 PMID:28730625 PMID:36980996 |
|
NCBI chrNW_004936720:282,291...316,629
Ensembl chrNW_004936720:279,521...316,674
|
|
|
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 chrNW_004936470:46,361,528...46,379,576
Ensembl chrNW_004936470:46,361,451...46,377,594
|
|
|
G |
Sf3b4 |
splicing factor 3b subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Nager syndrome |
OMIM ClinVar |
PMID:22541558 PMID:23568615 PMID:24003905 PMID:25741868 PMID:27622494 PMID:28492532 More...
|
|
NCBI chrNW_004936580:260,013...265,057
|
|
|
G |
Fgfr1 |
fibroblast growth factor receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Trigonocephaly, nonsyndromic |
ClinVar |
|
|
NCBI chrNW_004936710:1,760,365...1,815,269
Ensembl chrNW_004936710:1,760,089...1,815,508
|
|
G |
Frem1 |
FRAS1 related extracellular matrix 1 |
|
ISO |
DNA:deletion, duplication,missense mutation:cds: DNA:mutations:cds: |
RGD |
PMID:21931569 |
RGD:11554186 |
NCBI chrNW_004936539:8,338,624...8,508,031
Ensembl chrNW_004936539:8,351,159...8,508,069
|
|
|
G |
Specc1l |
sperm antigen with calponin homology and coiled-coil domains 1 like |
|
ISO |
ClinVar Annotator: match by term: Oculomaxillofacial dysostosis |
OMIM ClinVar |
PMID:21703590 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936619:448,304...592,981
Ensembl chrNW_004936619:448,303...593,001
|
|
|
G |
Gja1 |
gap junction protein alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Oculodentodigital dysplasia |
OMIM ClinVar |
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:16709485 PMID:17256797 PMID:17901047 PMID:18003637 PMID:18079109 PMID:18946008 PMID:19057520 PMID:19338053 PMID:19638688 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:25741914 PMID:27226478 PMID:28492532 PMID:30628995 PMID:32318302 PMID:33080786 PMID:34630166 PMID:35023121 More...
|
|
NCBI chrNW_004936658:3,920,043...3,932,987
Ensembl chrNW_004936658:3,920,043...3,932,987
|
|
|
G |
Gja1 |
gap junction protein alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive |
OMIM ClinVar |
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 chrNW_004936658:3,920,043...3,932,987
Ensembl chrNW_004936658:3,920,043...3,932,987
|
|
G |
Tbc1d32 |
TBC1 domain family member 32 |
|
ISO |
ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936658:3,632,314...3,814,134
Ensembl chrNW_004936658:3,632,536...3,812,805
|
|
|
G |
Nectin1 |
nectin cell adhesion molecule 1 |
|
ISO |
ClinVar Annotator: match by term: Orofacial cleft 7 |
ClinVar |
PMID:10932188 PMID:11559849 |
|
NCBI chrNW_004936542:4,501,081...4,602,338
Ensembl chrNW_004936542:4,539,931...4,602,344
|
|
|
G |
Lmbr1 |
limb development membrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: POLYDACTYLY OF TRIPHALANGEAL THUMB | 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 More...
|
|
NCBI chrNW_004936797:745,851...873,388
Ensembl chrNW_004936797:745,845...868,632
|
|
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 chrNW_004936626:4,241,993...4,301,919
Ensembl chrNW_004936626:4,241,908...4,309,476
|
|
G |
Rnf32 |
ring finger protein 32 |
|
ISO |
ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome |
ClinVar |
PMID:18178630 |
|
NCBI chrNW_004936797:876,305...906,252
Ensembl chrNW_004936797:876,592...906,438
|
|
G |
Shh |
sonic hedgehog signaling molecule |
|
ISO |
DNA:duplication:enhancer |
RGD |
PMID:18417549 |
RGD:12801418 |
NCBI chrNW_004936527:10,033,095...10,042,713
Ensembl chrNW_004936527:10,033,299...10,042,599
|
|
|
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 More...
|
|
NCBI chrNW_004936497:6,106,284...6,318,339
Ensembl chrNW_004936497:6,106,268...6,318,354
|
|
|
G |
Fgfr1 |
fibroblast growth factor receptor 1 |
|
ISO |
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 ClinVar |
PMID:1456217 PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 PMID:11173846 PMID:14513299 PMID:14564217 PMID:14613973 PMID:15605412 PMID:15793702 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 chrNW_004936710:1,760,365...1,815,269
Ensembl chrNW_004936710:1,760,089...1,815,508
|
|
G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Acrocephalosyndactyly, type 5 | ClinVar Annotator: match by term: Pfeiffer syndrome |
OMIM ClinVar |
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:25741909 PMID:25741914 PMID:25741915 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 More...
|
|
NCBI chrNW_004936486:10,506,680...10,606,272
Ensembl chrNW_004936486:10,507,097...10,602,019
|
|
|
G |
Irf6 |
interferon regulatory factor 6 |
|
ISO |
ClinVar Annotator: match by term: Faciogenitopopliteal syndrome | ClinVar Annotator: match by term: Popliteal pterygium syndrome |
OMIM ClinVar |
PMID:12219090 PMID:14757865 PMID:15558496 PMID:16096995 PMID:17551329 PMID:18209213 PMID:18478600 PMID:18617879 PMID:19036739 PMID:19282774 PMID:19734457 PMID:20803643 PMID:22440537 PMID:22488974 PMID:23949966 PMID:24936515 PMID:25547932 PMID:25548624 PMID:25691407 PMID:25741868 PMID:28492532 PMID:29453417 More...
|
|
NCBI chrNW_004936557:3,292,927...3,309,002
Ensembl chrNW_004936557:3,292,873...3,311,369
|
|
G |
Ripk4 |
receptor interacting serine/threonine kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Popliteal pterygium syndrome |
ClinVar |
|
|
NCBI chrNW_004936500:2,017,519...2,038,777
Ensembl chrNW_004936500:2,017,518...2,039,108
|
|
|
G |
Dhodh |
dihydroorotate dehydrogenase (quinone) |
|
ISO |
ClinVar Annotator: match by term: Miller syndrome |
OMIM ClinVar |
PMID:19915526 PMID:20220176 PMID:21346561 PMID:22692683 PMID:22967083 PMID:24033266 PMID:25741868 PMID:28492532 PMID:33262786 More...
|
|
NCBI chrNW_004936475:21,863,627...21,877,660
Ensembl chrNW_004936475:21,862,166...21,877,711
|
|
|
G |
Hoxa11 |
homeobox A11 |
|
ISO |
|
RGD |
PMID:11101832 |
RGD:11353968 |
NCBI chrNW_004936478:3,809,288...3,813,014
Ensembl chrNW_004936478:3,809,288...3,813,014
|
|
G |
Mecom |
MDS1 and EVI1 complex locus |
|
ISO |
ClinVar Annotator: match by term: Radioulnar synostosis |
ClinVar |
|
|
NCBI chrNW_004936593:2,742,236...3,282,596
Ensembl chrNW_004936593:3,106,202...3,282,596
|
|
G |
Smad6 |
SMAD family member 6 |
|
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 chrNW_004936471:26,781,420...26,856,556
Ensembl chrNW_004936471:26,781,549...26,856,571
|
|
|
G |
Hoxa11 |
homeobox A11 |
|
ISO |
ClinVar Annotator: match by term: THROMBOCYTOPENIA, CONGENITAL, WITH RADIOULNAR SYNOSTOSIS |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936478:3,809,288...3,813,014
Ensembl chrNW_004936478:3,809,288...3,813,014
|
|
|
G |
Hoxa11 |
homeobox A11 |
|
ISO |
ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 |
OMIM ClinVar |
PMID:11101832 PMID:25741868 |
|
NCBI chrNW_004936478:3,809,288...3,813,014
Ensembl chrNW_004936478:3,809,288...3,813,014
|
|
|
G |
Cav1 |
caveolin 1 |
|
ISO |
ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 |
ClinVar |
PMID:25741868 PMID:38177409 |
|
NCBI chrNW_004936589:2,504,235...2,536,778
Ensembl chrNW_004936589:2,504,224...2,537,170
|
|
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 chrNW_004936593:2,742,236...3,282,596
Ensembl chrNW_004936593:3,106,202...3,282,596
|
|
|
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 |
OMIM ClinVar |
PMID:1240778 PMID:10465122 PMID:10749989 PMID:12791045 PMID:19952666 PMID:24127277 PMID:25741868 PMID:28492532 More...
|
|
NCBI chrNW_004936546:5,331,220...5,332,669
Ensembl chrNW_004936546:5,331,863...5,332,555
|
|
|
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 More...
|
|
NCBI chrNW_004936486:10,506,680...10,606,272
Ensembl chrNW_004936486:10,507,097...10,602,019
|
|
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: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:25741868 PMID:25741914 PMID:26740388 PMID:28492532 PMID:32238909 More...
|
|
NCBI chrNW_004936477:21,591,772...21,606,289
Ensembl chrNW_004936477:21,591,792...21,606,296
|
|
G |
Twist1 |
twist family bHLH transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: ACS III | ClinVar Annotator: match by term: Chotzen syndrome | ClinVar Annotator: match by term: Saethre-Chotzen syndrome |
OMIM ClinVar |
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:25741909 PMID:26114524 PMID:27884935 PMID:28369379 PMID:28492532 PMID:29037998 PMID:29304373 PMID:30074960 PMID:30450715 PMID:30651579 PMID:31754721 PMID:31837199 PMID:33369125 PMID:33547006 PMID:33937142 More...
|
|
NCBI chrNW_004936546:5,331,220...5,332,669
Ensembl chrNW_004936546:5,331,863...5,332,555
|
|
|
G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO |
ClinVar Annotator: match by term: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND IMPAIRED INTELLECTUAL DEVELOPMENT |
OMIM ClinVar |
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:25741909 PMID:25867380 PMID:25937001 PMID:26380986 PMID:26467025 PMID:26619011 PMID:27079505 PMID:28492532 PMID:31145570 More...
|
|
NCBI chrNW_004936486:10,506,680...10,606,272
Ensembl chrNW_004936486:10,507,097...10,602,019
|
|
|
G |
Lrp4 |
LDL receptor related protein 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chrNW_004936562:2,211,519...2,262,899
Ensembl chrNW_004936562:2,211,514...2,263,937
|
|
G |
Sost |
sclerostin |
|
ISO |
DNA:transition: :69C>T (human) CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:11179006 |
RGD:68858 |
NCBI chrNW_004936541:313,308...318,109
Ensembl chrNW_004936541:313,287...318,176
|
|
|
G |
Sost |
sclerostin |
|
ISO |
ClinVar Annotator: match by term: SOST-related condition | ClinVar Annotator: match by term: Sclerosteosis 1 |
OMIM ClinVar |
PMID:11179006 PMID:11181578 PMID:19072561 PMID:21221996 PMID:25741868 PMID:25984533 PMID:28492532 More...
|
|
NCBI chrNW_004936541:313,308...318,109
Ensembl chrNW_004936541:313,287...318,176
|
|
|
G |
Lrp4 |
LDL receptor related protein 4 |
|
ISO |
ClinVar Annotator: match by term: Sclerosteosis 2 |
OMIM ClinVar |
PMID:7891385 PMID:11385236 PMID:21471202 PMID:24234652 PMID:25741868 PMID:28492532 More...
|
|
NCBI chrNW_004936562:2,211,519...2,262,899
Ensembl chrNW_004936562:2,211,514...2,263,937
|
|
|
G |
Acap3 |
ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,836,851...1,850,279
Ensembl chrNW_004936737:1,836,897...1,848,989
|
|
G |
Actrt2 |
actin related protein T2 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:765,125...766,432
Ensembl chrNW_004936737:765,125...766,432
|
|
G |
Agrn |
agrin |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:2,010,647...2,041,401
Ensembl chrNW_004936737:2,011,724...2,039,796
|
|
G |
Ankrd65 |
ankyrin repeat domain 65 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,751,065...1,753,843
|
|
G |
Aurkaip1 |
aurora kinase A interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,776,550...1,778,233
Ensembl chrNW_004936737:1,776,480...1,779,611
|
|
G |
B3galt6 |
beta-1,3-galactosyltransferase 6 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,887,250...1,889,055
Ensembl chrNW_004936737:1,887,855...1,888,826
|
|
G |
C1qtnf12 |
C1q and TNF related 12 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,877,428...1,881,345
Ensembl chrNW_004936737:1,877,191...1,881,360
|
|
G |
Calml6 |
calmodulin like 6 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,468,172...1,470,326
Ensembl chrNW_004936737:1,468,269...1,469,445
|
|
G |
Ccnl2 |
cyclin L2 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,765,027...1,773,156
Ensembl chrNW_004936737:1,764,189...1,772,475
|
|
G |
Cfap74 |
cilia and flagella associated protein 74 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,416,475...1,465,984
|
|
G |
Cptp |
ceramide-1-phosphate transfer protein |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,816,461...1,820,353
Ensembl chrNW_004936737:1,816,475...1,820,320
|
|
G |
CUNH1orf159 |
chromosome unknown C1orf159 homolog |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,975,031...1,991,058
|
|
G |
Dvl1 |
dishevelled segment polarity protein 1 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,797,348...1,811,043
Ensembl chrNW_004936737:1,797,326...1,810,286
|
|
G |
Faap20 |
FA core complex associated protein 20 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,296,152...1,300,038
|
|
G |
Fndc10 |
fibronectin type III domain containing 10 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,658,932...1,668,081
|
|
G |
Gabrd |
gamma-aminobutyric acid type A receptor subunit delta |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,400,437...1,405,885
Ensembl chrNW_004936737:1,400,395...1,406,119
|
|
G |
Gnb1 |
G protein subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,518,855...1,554,926
Ensembl chrNW_004936737:1,524,325...1,555,102
|
|
G |
Hes5 |
hes family bHLH transcription factor 5 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,045,496...1,047,865
Ensembl chrNW_004936737:1,046,613...1,047,950
|
|
G |
Ints11 |
integrator complex subunit 11 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,820,472...1,833,301
Ensembl chrNW_004936737:1,822,826...1,833,104
|
|
G |
Kifbp |
kinesin family binding protein |
|
ISO |
ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome |
ClinVar |
PMID:15883926 PMID:18414213 PMID:23427148 PMID:24072599 PMID:24901346 PMID:25741868 PMID:26467025 PMID:28277559 PMID:28492532 PMID:32939943 More...
|
|
NCBI chrNW_004936521:9,395,490...9,421,093
Ensembl chrNW_004936521:9,395,465...9,421,629
|
|
G |
Mib2 |
MIB E3 ubiquitin protein ligase 2 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,633,495...1,646,598
|
|
G |
Mmel1 |
membrane metalloendopeptidase like 1 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:970,504...997,452
Ensembl chrNW_004936737:970,504...997,067
|
|
G |
Mmp23b |
matrix metallopeptidase 23B |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,628,915...1,632,023
Ensembl chrNW_004936737:1,629,639...1,632,023
|
|
G |
Morn1 |
MORN repeat containing 1 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,166,183...1,214,517
|
|
G |
Mrpl20 |
mitochondrial ribosomal protein L20 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,760,236...1,761,776
|
|
G |
Mxra8 |
matrix remodeling associated 8 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,790,653...1,794,749
Ensembl chrNW_004936737:1,790,587...1,794,796
|
|
G |
Nadk |
NAD kinase |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,568,304...1,579,929
|
|
G |
Nek9 |
NIMA related kinase 9 |
|
ISO |
ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936488:4,221,099...4,261,401
Ensembl chrNW_004936488:4,220,429...4,261,432
|
|
G |
Pank4 |
pantothenate kinase 4 (inactive) |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,049,467...1,064,548
Ensembl chrNW_004936737:1,048,597...1,065,364
|
|
G |
Pex10 |
peroxisomal biogenesis factor 10 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,144,753...1,152,720
Ensembl chrNW_004936737:1,144,700...1,152,718
|
|
G |
Plch2 |
phospholipase C eta 2 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,066,860...1,131,627
Ensembl chrNW_004936737:1,066,825...1,133,216
|
|
G |
Prkcz |
protein kinase C zeta |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,303,502...1,383,135
Ensembl chrNW_004936737:1,303,887...1,321,944
|
|
G |
Prxl2b |
peroxiredoxin like 2B |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:998,313...1,000,757
Ensembl chrNW_004936737:998,186...1,000,764
|
|
G |
Pusl1 |
pseudouridine synthase like 1 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,833,298...1,836,101
Ensembl chrNW_004936737:1,833,798...1,836,696
|
|
G |
Rer1 |
retention in endoplasmic reticulum sorting receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,152,937...1,164,817
Ensembl chrNW_004936737:1,152,937...1,164,616
|
|
G |
Rnf223 |
ring finger protein 223 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,992,117...1,997,810
|
|
G |
Scnn1d |
sodium channel epithelial 1 subunit delta |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,851,185...1,854,923
|
|
G |
Sdf4 |
stromal cell derived factor 4 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,889,123...1,898,303
Ensembl chrNW_004936737:1,891,415...1,898,904
|
|
G |
Ski |
SKI proto-oncogene |
|
ISO |
ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
OMIM ClinVar |
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:24033266 PMID:24357594 PMID:24736733 PMID:25326635 PMID:25741868 PMID:27146836 PMID:28252636 PMID:28492532 PMID:28667723 PMID:28750028 PMID:28757364 PMID:28857439 PMID:29168297 PMID:29543232 PMID:31322791 PMID:31754721 PMID:31980905 PMID:32123317 PMID:33416497 PMID:33436942 PMID:33824467 PMID:38177409 More...
|
|
NCBI chrNW_004936737:1,223,653...1,274,664
Ensembl chrNW_004936737:1,222,341...1,276,631
|
|
G |
Ssu72 |
SSU72 homolog, RNA polymerase II CTD phosphatase |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,678,425...1,705,569
Ensembl chrNW_004936737:1,678,425...1,705,609
|
|
G |
Tas1r3 |
taste 1 receptor member 3 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,811,123...1,814,982
Ensembl chrNW_004936737:1,811,815...1,814,982
|
|
G |
Tmem240 |
transmembrane protein 240 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,710,311...1,711,882
|
|
G |
Tmem52 |
transmembrane protein 52 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,466,168...1,468,003
|
|
G |
Tmem88b |
transmembrane protein 88B |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,746,208...1,746,947
|
|
G |
Tnfrsf14 |
TNF receptor superfamily member 14 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,008,228...1,013,575
|
|
G |
Tnfrsf18 |
TNF receptor superfamily member 18 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,905,307...1,910,356
|
|
G |
Tnfrsf4 |
TNF receptor superfamily member 4 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,901,749...1,904,382
|
|
G |
Ttc34 |
tetratricopeptide repeat domain 34 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
|
|
G |
Ttll10 |
tubulin tyrosine ligase like 10 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,910,286...1,926,061
|
|
G |
Ube2j2 |
ubiquitin conjugating enzyme E2 J2 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,862,577...1,875,216
Ensembl chrNW_004936737:1,862,578...1,875,248
|
|
G |
Vwa1 |
von Willebrand factor A domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936737:1,733,837...1,738,861
Ensembl chrNW_004936737:1,733,854...1,738,792
|
|
|
G |
Flnb |
filamin B |
|
ISO |
ClinVar Annotator: match by term: Scoliosis, congenital with unilateral unsegmented bar | ClinVar Annotator: match by term: Spondylocarpotarsal synostosis syndrome |
OMIM ClinVar |
PMID:14991055 PMID:18257094 PMID:18322662 PMID:18386804 PMID:20301736 PMID:25741868 PMID:26380986 PMID:28492532 PMID:29566257 More...
|
|
NCBI chrNW_004936473:8,268,326...8,413,955
Ensembl chrNW_004936473:8,268,496...8,411,975
|
|
G |
LOC101974020 |
myosin-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 chrNW_004936595:3,484,323...3,507,227
Ensembl chrNW_004936595:3,484,330...3,507,191
|
|
|
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 chrNW_004936490:6,341,849...6,494,377
Ensembl chrNW_004936490:6,371,204...6,632,690
|
|
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 chrNW_004936490:6,262,651...6,264,069
Ensembl chrNW_004936490:6,262,785...6,263,483
|
|
|
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 chrNW_004936519:7,997,824...8,001,614
Ensembl chrNW_004936519:7,994,455...8,002,487
|
|
|
G |
Aggf1 |
angiogenic factor with G-patch and FHA domains 1 |
|
ISO |
ClinVar Annotator: match by term: Non-syndromic syndactyly |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936549:5,069,164...5,109,299
Ensembl chrNW_004936549:5,068,656...5,111,406
|
|
G |
Cdh20 |
cadherin 20 |
|
ISO |
ClinVar Annotator: match by term: Non-syndromic syndactyly |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936497:3,626,181...3,827,024
Ensembl chrNW_004936497:3,625,601...3,699,564
|
|
G |
Cibar1 |
CBY1 interacting BAR domain containing 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30395363 |
|
NCBI chrNW_004936544:6,848,026...6,868,522
Ensembl chrNW_004936544:6,848,221...6,868,088
|
|
G |
Csnk2b |
casein kinase 2 beta |
|
ISO |
ClinVar Annotator: match by term: Syndactyly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33644862 PMID:34041744 |
|
NCBI chrNW_004936727:1,857,596...1,862,551
Ensembl chrNW_004936727:1,857,596...1,862,002
|
|
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 chrNW_004936661:2,322,531...2,330,150
Ensembl chrNW_004936661:2,322,531...2,329,953
|
|
G |
Fbn2 |
fibrillin 2 |
|
ISO |
|
RGD |
PMID:11285249 |
RGD:1300320 |
NCBI chrNW_004936504:1,535,629...1,757,386
Ensembl chrNW_004936504:1,535,624...1,757,435
|
|
G |
Fzd4 |
frizzled class receptor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17103440 |
|
NCBI chrNW_004936498:14,657,641...14,666,853
Ensembl chrNW_004936498:14,662,659...14,666,883
|
|
G |
Gdf5 |
growth differentiation factor 5 |
|
ISO |
DNA:insertion:cds: |
RGD |
PMID:18984342 |
RGD:12738203 |
NCBI chrNW_004936561:5,343,038...5,347,721
Ensembl chrNW_004936561:5,343,038...5,347,721
|
|
G |
Gja1 |
gap junction protein alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Syndactyly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936658:3,920,043...3,932,987
Ensembl chrNW_004936658:3,920,043...3,932,987
|
|
G |
Gli3 |
GLI family zinc finger 3 |
|
ISO |
ClinVar Annotator: match by term: polysyndactyly |
ClinVar |
|
|
NCBI chrNW_004936478:17,129,922...17,403,630
Ensembl chrNW_004936478:17,126,911...17,403,011
|
|
G |
Hoxd13 |
homeobox D13 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chrNW_004936509:5,579,846...5,581,651
Ensembl chrNW_004936509:5,579,843...5,581,651
|
|
G |
Irf6 |
interferon regulatory factor 6 |
|
ISO |
popliteal pterygium syndrome, OMIM:119500 DNA:nonsense_mutation:CDS:amino acid Q393X |
RGD |
PMID:12219090 |
RGD:1600214 |
NCBI chrNW_004936557:3,292,927...3,309,002
Ensembl chrNW_004936557:3,292,873...3,311,369
|
|
G |
Jag2 |
jagged canonical Notch ligand 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9531541 |
|
NCBI chrNW_004936621:363,489...380,616
Ensembl chrNW_004936621:366,616...380,618
|
|
G |
Lrp2 |
LDL receptor related protein 2 |
|
ISO |
ClinVar Annotator: match by term: Non-syndromic syndactyly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936469:10,245,001...10,438,933
Ensembl chrNW_004936469:10,244,881...10,438,935
|
|
G |
Lrp4 |
LDL receptor related protein 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16207730 |
|
NCBI chrNW_004936562:2,211,519...2,262,899
Ensembl chrNW_004936562:2,211,514...2,263,937
|
|
G |
Nedd4l |
NEDD4 like E3 ubiquitin protein ligase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27694961 |
|
NCBI chrNW_004936497:6,106,284...6,318,339
Ensembl chrNW_004936497:6,106,268...6,318,354
|
|
G |
Plekhg2 |
pleckstrin homology and RhoGEF domain containing G2 |
|
ISO |
ClinVar Annotator: match by term: Syndactyly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936661:2,257,097...2,268,301
Ensembl chrNW_004936661:2,257,068...2,268,716
|
|
G |
Rab19 |
RAB19, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Non-syndromic syndactyly |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936592:4,505,882...4,509,288
|
|
|
G |
Ihh |
Indian hedgehog signaling molecule |
|
ISO |
DNA:duplications |
RGD |
PMID:21167467 |
RGD:12910956 |
NCBI chrNW_004936569:1,474,693...1,480,562
Ensembl chrNW_004936569:1,474,665...1,480,568
|
|
G |
Nhej1 |
non-homologous end joining factor 1 |
|
ISO |
ClinVar Annotator: match by term: Syndactyly type 1 |
ClinVar |
|
|
NCBI chrNW_004936569:1,494,783...1,578,587
Ensembl chrNW_004936569:1,495,446...1,578,590
|
|
|
G |
Gja1 |
gap junction protein alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Syndactyly type 3 |
OMIM 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 chrNW_004936658:3,920,043...3,932,987
Ensembl chrNW_004936658:3,920,043...3,932,987
|
|
|
G |
Lmbr1 |
limb development membrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Syndactyly type 4 |
OMIM ClinVar |
PMID:1849351 PMID:18417549 PMID:19847792 |
|
NCBI chrNW_004936797:745,851...873,388
Ensembl chrNW_004936797:745,845...868,632
|
|
G |
Shh |
sonic hedgehog signaling molecule |
|
ISO |
DNA:duplication:enhancer |
RGD |
PMID:18417549 |
RGD:12801418 |
NCBI chrNW_004936527:10,033,095...10,042,713
Ensembl chrNW_004936527:10,033,299...10,042,599
|
|
|
G |
Gja1 |
gap junction protein alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Syndactyly type 5 |
ClinVar |
|
|
NCBI chrNW_004936658:3,920,043...3,932,987
Ensembl chrNW_004936658:3,920,043...3,932,987
|
|
G |
Hoxd13 |
homeobox D13 |
|
ISO |
ClinVar Annotator: match by term: Syndactyly type 5 | ClinVar Annotator: match by term: Syndactyly, type V |
OMIM ClinVar |
PMID:215242 PMID:9207113 PMID:15333588 PMID:16222680 PMID:17236141 PMID:25741868 PMID:28492532 More...
|
|
NCBI chrNW_004936509:5,579,846...5,581,651
Ensembl chrNW_004936509:5,579,843...5,581,651
|
|
|
G |
Fgf16 |
fibroblast growth factor 16 |
|
ISO |
ClinVar Annotator: match by term: Syndactyly type 8 |
OMIM ClinVar |
PMID:23709756 PMID:24878828 |
|
NCBI chrNW_004936683:2,454,067...2,463,653
Ensembl chrNW_004936683:2,454,067...2,463,635
|
|
|
G |
Ccnq |
cyclin Q |
|
ISO |
ClinVar Annotator: match by term: Syndactyly-telecanthus-anogenital and renal malformations syndrome |
OMIM ClinVar |
PMID:8818947 PMID:18297069 PMID:25741868 |
|
NCBI chrNW_004936809:471,619...482,296
Ensembl chrNW_004936809:472,061...482,192
|
|
|
G |
Hoxd13 |
homeobox D13 |
|
ISO |
ClinVar Annotator: match by term: Synpolydactyly |
ClinVar |
PMID:22233338 PMID:25741868 |
|
NCBI chrNW_004936509:5,579,846...5,581,651
Ensembl chrNW_004936509:5,579,843...5,581,651
|
|
|
G |
Chst11 |
carbohydrate sulfotransferase 11 |
|
ISO |
ClinVar Annotator: match by term: Synpolydactyly type 1 |
ClinVar |
PMID:29514872 |
|
NCBI chrNW_004936492:9,886,269...10,092,725
Ensembl chrNW_004936492:9,886,254...10,092,221
|
|
G |
Hoxd13 |
homeobox D13 |
severity |
ISO |
ClinVar Annotator: match by term: Synpolydactyly type 1 DNA:insertion:exon |
OMIM ClinVar 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:24789103 PMID:25741868 PMID:28492532 PMID:30408610 More...
|
RGD:12743592 |
NCBI chrNW_004936509:5,579,846...5,581,651
Ensembl chrNW_004936509:5,579,843...5,581,651
|
|
|
G |
Fbln1 |
fibulin 1 |
|
ISO |
ClinVar Annotator: match by term: SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936629:4,170,186...4,242,100
Ensembl chrNW_004936629:4,170,817...4,242,103
|
|
|
G |
Nog |
noggin |
|
ISO |
ClinVar Annotator: match by term: Tarsal-carpal coalition syndrome |
OMIM ClinVar |
PMID:4019538 PMID:7557985 PMID:10080184 PMID:11545688 PMID:17245852 PMID:17668388 PMID:25741868 PMID:28492532 PMID:29159868 More...
|
|
NCBI chrNW_004936490:6,262,651...6,264,069
Ensembl chrNW_004936490:6,262,785...6,263,483
|
|
|
G |
Cacna1c |
calcium voltage-gated channel subunit alpha1 C |
|
ISO |
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 ClinVar |
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:23677916 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:28600387 PMID:28616568 PMID:28704380 PMID:28750076 PMID:29046645 PMID:29071820 PMID:29247119 PMID:29568937 PMID:29915097 PMID:30023270 PMID:30025578 PMID:30027834 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:31539150 PMID:31737537 PMID:32145446 PMID:32161207 PMID:33488405 PMID:34163037 PMID:34222376 More...
|
|
NCBI chrNW_004936606:2,168,104...2,867,560
Ensembl chrNW_004936606:2,168,625...2,865,758
|
|
|
G |
LOC101959095 |
RNA polymerase I and III subunit D |
|
ISO |
ClinVar Annotator: match by term: Treacher Collins syndrome |
ClinVar |
PMID:24603435 |
|
NCBI chrNW_004936472:22,841,094...22,842,798
Ensembl chrNW_004936472:22,841,094...22,881,713
|
|
G |
Polr1b |
RNA polymerase I subunit B |
|
ISO |
ClinVar Annotator: match by term: Treacher Collins syndrome |
ClinVar |
PMID:25741868 PMID:31649276 |
|
NCBI chrNW_004936783:1,034,097...1,055,798
Ensembl chrNW_004936783:1,034,054...1,056,384
|
|
G |
Tcof1 |
treacle ribosome biogenesis factor 1 |
|
ISO |
ClinVar Annotator: match by term: Treacher Collins Syndrome, Dominant | ClinVar Annotator: match by term: Treacher Collins syndrome |
ClinVar |
PMID:8894686 PMID:22317976 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936504:4,533,993...4,569,997
Ensembl chrNW_004936504:4,533,981...4,570,055
|
|
|
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:21951868 PMID:22317976 PMID:23967202 PMID:24108658 PMID:24994558 PMID:25741868 PMID:25741913 PMID:25741915 PMID:25790162 PMID:26467025 PMID:28065470 PMID:28419064 PMID:28492532 PMID:29230583 PMID:30311386 PMID:31307516 PMID:32257192 PMID:33332773 More...
|
|
NCBI chrNW_004936504:4,533,993...4,569,997
Ensembl chrNW_004936504:4,533,981...4,570,055
|
|
|
G |
LOC101959095 |
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 chrNW_004936472:22,841,094...22,842,798
Ensembl chrNW_004936472:22,841,094...22,881,713
|
|
|
G |
Polr1c |
RNA polymerase I and III subunit C |
|
ISO |
ClinVar Annotator: match by term: POLR1C-Related Disorders | ClinVar Annotator: match by term: Treacher Collins Syndrome, Recessive | ClinVar Annotator: match by term: Treacher Collins syndrome 3 |
OMIM ClinVar |
PMID:610060 PMID:9536098 PMID:11013442 PMID:17576681 PMID:21131976 PMID:22563501 PMID:22855961 PMID:24942156 PMID:25741868 PMID:26151409 PMID:26467025 PMID:28327206 PMID:28492532 PMID:29567474 PMID:29644095 PMID:30311386 PMID:30957429 PMID:31019026 PMID:32042905 PMID:33597727 PMID:33804237 PMID:33888711 PMID:34645491 More...
|
|
NCBI chrNW_004936476:16,483,203...16,487,360
Ensembl chrNW_004936476:16,480,835...16,487,424
|
|
|
G |
Polr1b |
RNA polymerase I subunit B |
|
ISO |
ClinVar Annotator: match by term: Treacher Collins syndrome 4 |
OMIM ClinVar |
PMID:25741868 PMID:31649276 |
|
NCBI chrNW_004936783:1,034,097...1,055,798
Ensembl chrNW_004936783:1,034,054...1,056,384
|
|
|
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 chrNW_004936710:1,760,365...1,815,269
Ensembl chrNW_004936710:1,760,089...1,815,508
|
|
|
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 chrNW_004936539:8,338,624...8,508,031
Ensembl chrNW_004936539:8,351,159...8,508,069
|
|
|
G |
Znf407 |
zinc finger protein 407 |
|
ISO |
ClinVar Annotator: match by term: Radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936616:3,525,483...3,947,163
Ensembl chrNW_004936616:3,525,246...3,921,359
|
|
|
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 |
OMIM ClinVar |
PMID:3144990 PMID:7606318 PMID:16531740 PMID:18798318 PMID:24728327 PMID:25741868 PMID:27236920 PMID:28492532 More...
|
|
NCBI chrNW_004936579:5,893,064...5,917,021
Ensembl chrNW_004936579:5,892,542...5,917,281
|
|