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G |
Fgfr1 |
fibroblast growth factor receptor 1 |
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ISO |
DNA:missense mutation: :p.P252R (human) |
RGD |
PMID:7874169 PMID:25251565 |
RGD:11567243 RGD:11567271 |
NCBI chrNW_004936710:1,760,365...1,815,269
Ensembl chrNW_004936710:1,760,089...1,815,508
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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...
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RGD:12801474 RGD:12801488 |
NCBI chrNW_004936486:10,506,680...10,606,272
Ensembl chrNW_004936486:10,507,097...10,602,019
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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...
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NCBI chrNW_004936477:21,591,772...21,606,289
Ensembl chrNW_004936477:21,591,792...21,606,296
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G |
Twist1 |
twist family bHLH transcription factor 1 |
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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...
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NCBI chrNW_004936546:5,331,220...5,332,669
Ensembl chrNW_004936546:5,331,863...5,332,555
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G |
Bag2 |
BAG cochaperone 2 |
|
ISO |
ClinVar Annotator: match by term: Acrocephalopolysyndactyly Type II | ClinVar Annotator: match by term: Carpenter syndrome |
ClinVar |
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NCBI chrNW_004936476:4,131,159...4,142,357
Ensembl chrNW_004936476:4,129,013...4,142,357
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G |
Megf8 |
multiple EGF like domains 8 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome |
ClinVar |
|
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NCBI chrNW_004936706:157,167...198,071
Ensembl chrNW_004936706:157,019...197,500
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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...
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NCBI chrNW_004936476:4,095,829...4,127,714
Ensembl chrNW_004936476:4,095,329...4,127,701
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G |
Bag2 |
BAG cochaperone 2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 1 |
ClinVar |
|
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NCBI chrNW_004936476:4,131,159...4,142,357
Ensembl chrNW_004936476:4,129,013...4,142,357
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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...
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NCBI chrNW_004936476:4,095,829...4,127,714
Ensembl chrNW_004936476:4,095,329...4,127,701
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G |
Actmap |
actin maturation protease |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:3,024,581...3,029,867
Ensembl chrNW_004936661:3,024,984...3,029,158
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G |
Akt2 |
AKT serine/threonine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:2,652,568...2,694,039
Ensembl chrNW_004936661:2,652,566...2,694,086
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G |
Arhgef1 |
Rho guanine nucleotide exchange factor 1 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936706:540,987...558,792
Ensembl chrNW_004936706:540,748...558,823
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G |
Atp1a3 |
ATPase Na+/K+ transporting subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936706:476,473...494,659
Ensembl chrNW_004936706:477,107...495,525
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G |
Axl |
AXL receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:3,658,140...3,687,290
Ensembl chrNW_004936661:3,657,831...3,687,816
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G |
B3gnt8 |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:3,817,791...3,819,854
Ensembl chrNW_004936661:3,818,120...3,819,307
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G |
B9d2 |
B9 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:3,759,031...3,765,361
Ensembl chrNW_004936661:3,758,909...3,765,513
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G |
Bckdha |
branched chain keto acid dehydrogenase E1 subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:3,799,998...3,817,560
Ensembl chrNW_004936661:3,799,955...3,819,851
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G |
Blvrb |
biliverdin reductase B |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:2,808,998...2,818,123
Ensembl chrNW_004936661:2,808,950...2,818,178
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G |
Ccdc97 |
coiled-coil domain containing 97 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:3,724,943...3,736,936
Ensembl chrNW_004936661:3,725,591...3,736,877
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G |
Ccnp |
cyclin P |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:2,643,546...2,648,600
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G |
Cd79a |
CD79a molecule |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936706:561,195...564,577
Ensembl chrNW_004936706:561,140...564,661
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G |
Cic |
capicua transcriptional repressor |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936706:216,394...243,361
Ensembl chrNW_004936706:212,833...242,756
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G |
Cnfn |
cornifelin |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936706:149,643...151,088
Ensembl chrNW_004936706:149,643...151,088
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G |
Coq8b |
coenzyme Q8B |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:2,989,164...3,008,955
Ensembl chrNW_004936661:2,989,162...3,006,289
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G |
CUNH19orf47 |
chromosome unknown C19orf47 homolog |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:2,719,382...2,741,373
Ensembl chrNW_004936661:2,719,387...2,741,373
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G |
Dedd2 |
death effector domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936706:285,874...302,910
Ensembl chrNW_004936706:285,820...305,869
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G |
Dll3 |
delta like canonical Notch ligand 3 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:2,322,531...2,330,150
Ensembl chrNW_004936661:2,322,531...2,329,953
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G |
Dmac2 |
distal membrane arm assembly component 2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:3,824,379...3,826,411
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G |
Dmrtc2 |
DMRT like family C2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936706:582,541...586,735
Ensembl chrNW_004936706:582,541...586,715
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G |
Dyrk1b |
dual specificity tyrosine phosphorylation regulated kinase 1B |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:2,436,702...2,444,758
Ensembl chrNW_004936661:2,433,483...2,444,752
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G |
Egln2 |
egl-9 family hypoxia inducible factor 2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:3,061,391...3,070,219
Ensembl chrNW_004936661:3,061,308...3,070,192
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G |
Eid2 |
EP300 interacting inhibitor of differentiation 2 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:2,364,179...2,366,739
Ensembl chrNW_004936661:2,365,861...2,366,586
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G |
Eid2b |
EP300 interacting inhibitor of differentiation 2B |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:2,352,726...2,354,968
Ensembl chrNW_004936661:2,354,497...2,354,966
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G |
Erf |
ETS2 repressor factor |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936706:255,479...263,154
Ensembl chrNW_004936706:255,407...263,179
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G |
Erich4 |
glutamate rich 4 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:3,829,881...3,834,379
Ensembl chrNW_004936661:3,829,577...3,834,487
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G |
Exosc5 |
exosome component 5 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:3,790,283...3,799,602
Ensembl chrNW_004936661:3,790,302...3,799,660
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G |
Fbl |
fibrillarin |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:2,444,985...2,455,423
Ensembl chrNW_004936661:2,444,866...2,455,528
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G |
Fcgbp |
Fc gamma binding protein |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:2,458,960...2,494,793
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G |
Grik5 |
glutamate ionotropic receptor kainate type subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936706:410,806...469,000
Ensembl chrNW_004936706:410,938...464,714
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G |
Gsk3a |
glycogen synthase kinase 3 alpha |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936706:266,462...277,256
Ensembl chrNW_004936706:269,126...277,256
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G |
Hipk4 |
homeodomain interacting protein kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:2,764,661...2,770,110
Ensembl chrNW_004936661:2,764,661...2,770,110
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G |
Hnrnpul1 |
heterogeneous nuclear ribonucleoprotein U like 1 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:3,688,328...3,723,405
Ensembl chrNW_004936661:3,690,137...3,723,391
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G |
Itpkc |
inositol-trisphosphate 3-kinase C |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:3,006,506...3,023,355
Ensembl chrNW_004936661:3,006,505...3,022,823
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G |
Leutx |
leucine twenty homeobox |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:2,399,154...2,406,044
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G |
Lipe |
lipase E, hormone sensitive type |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936706:122,939...139,506
Ensembl chrNW_004936706:128,133...141,276
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G |
Ltbp4 |
latent transforming growth factor beta binding protein 4 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:2,919,444...2,945,847
Ensembl chrNW_004936661:2,919,550...2,945,599
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G |
Lypd4 |
LY6/PLAUR domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936706:591,128...593,307
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G |
Map3k10 |
mitogen-activated protein kinase kinase kinase 10 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:2,623,356...2,638,218
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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...
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NCBI chrNW_004936706:157,167...198,071
Ensembl chrNW_004936706:157,019...197,500
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G |
Mia |
MIA SH3 domain containing |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:3,047,735...3,049,050
Ensembl chrNW_004936661:3,047,747...3,049,064
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G |
Numbl |
NUMB like endocytic adaptor protein |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:2,962,741...2,984,763
Ensembl chrNW_004936661:2,963,510...2,984,740
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G |
Pafah1b3 |
platelet activating factor acetylhydrolase 1b catalytic subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936706:212,635...215,498
Ensembl chrNW_004936706:212,096...215,497
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G |
Pld3 |
phospholipase D family member 3 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:2,741,523...2,763,945
Ensembl chrNW_004936661:2,741,234...2,767,121
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G |
Plekhg2 |
pleckstrin homology and RhoGEF domain containing G2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:2,257,097...2,268,301
Ensembl chrNW_004936661:2,257,068...2,268,716
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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
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G |
Prr19 |
proline rich 19 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936706:209,013...210,326
Ensembl chrNW_004936706:209,083...210,247
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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
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G |
Psmc4 |
proteasome 26S subunit, ATPase 4 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:2,522,665...2,528,279
Ensembl chrNW_004936661:2,522,615...2,528,284
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Rab4b |
RAB4B, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:3,049,802...3,059,921
Ensembl chrNW_004936661:3,049,638...3,059,963
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G |
Rabac1 |
Rab acceptor 1 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936706:498,271...500,847
Ensembl chrNW_004936706:497,963...500,842
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G |
Rps16 |
ribosomal protein S16 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:2,271,747...2,274,769
Ensembl chrNW_004936661:2,271,396...2,274,965
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Rps19 |
ribosomal protein S19 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936706:568,443...575,973
Ensembl chrNW_004936706:568,364...575,126
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Selenov |
selenoprotein V |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:2,335,170...2,338,422
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Sertad1 |
SERTA domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:2,792,501...2,793,901
Ensembl chrNW_004936661:2,792,850...2,793,590
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Sertad3 |
SERTA domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:2,801,975...2,806,095
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Shkbp1 |
SH3KBP1 binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:2,903,986...2,915,908
Ensembl chrNW_004936661:2,903,938...2,915,910
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Snrpa |
small nuclear ribonucleoprotein polypeptide A |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:3,030,104...3,041,877
Ensembl chrNW_004936661:3,029,802...3,041,877
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G |
Sptbn4 |
spectrin beta, non-erythrocytic 4 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:2,831,132...2,903,619
Ensembl chrNW_004936661:2,827,572...2,903,655
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G |
Supt5h |
SPT5 homolog, DSIF elongation factor subunit |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:2,280,390...2,308,085
Ensembl chrNW_004936661:2,280,285...2,308,780
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Tgfb1 |
transforming growth factor beta 1 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272
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Timm50 |
translocase of inner mitochondrial membrane 50 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:2,310,169...2,318,035
Ensembl chrNW_004936661:2,310,125...2,318,258
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Tmem145 |
transmembrane protein 145 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936706:198,105...206,794
Ensembl chrNW_004936706:198,339...206,739
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Tmem91 |
transmembrane protein 91 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:3,784,545...3,788,434
Ensembl chrNW_004936661:3,783,709...3,788,244
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Ttc9b |
tetratricopeptide repeat domain 9B |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:2,638,394...2,640,785
Ensembl chrNW_004936661:2,637,189...2,640,725
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Znf526 |
zinc finger protein 526 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936706:278,730...284,232
Ensembl chrNW_004936706:280,075...282,078
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Znf546 |
zinc finger protein 546 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:2,545,011...2,564,695
Ensembl chrNW_004936661:2,544,960...2,567,691
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Znf574 |
zinc finger protein 574 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936706:401,188...406,481
Ensembl chrNW_004936706:401,447...404,140
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Cdk13 |
cyclin dependent kinase 13 |
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ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome |
ClinVar |
PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 PMID:28492532 PMID:29236091 More...
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NCBI chrNW_004936478:15,296,055...15,387,749
Ensembl chrNW_004936478:15,296,055...15,388,309
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Gli3 |
GLI family zinc finger 3 |
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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...
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NCBI chrNW_004936478:17,129,922...17,403,630
Ensembl chrNW_004936478:17,126,911...17,403,011
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Inhba |
inhibin subunit beta A |
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ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome |
ClinVar |
PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 PMID:28492532 PMID:29236091 More...
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NCBI chrNW_004936478:16,878,725...16,884,065
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Mplkip |
M-phase specific PLK1 interacting protein |
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ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome |
ClinVar |
PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 PMID:28492532 PMID:29236091 More...
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NCBI chrNW_004936478:15,421,612...15,423,894
Ensembl chrNW_004936478:15,420,463...15,423,946
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Rala |
RAS like proto-oncogene A |
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ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome |
ClinVar |
PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 PMID:28492532 PMID:29236091 More...
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NCBI chrNW_004936478:15,167,651...15,186,594
Ensembl chrNW_004936478:15,167,751...15,186,633
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Sugct |
succinyl-CoA:glutarate-CoA transferase |
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ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome |
ClinVar |
PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 PMID:28492532 PMID:29236091 More...
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NCBI chrNW_004936478:15,424,010...16,102,401
Ensembl chrNW_004936478:15,424,041...16,102,024
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Fgfr1 |
fibroblast growth factor receptor 1 |
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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...
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NCBI chrNW_004936710:1,760,365...1,815,269
Ensembl chrNW_004936710:1,760,089...1,815,508
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Fgfr2 |
fibroblast growth factor receptor 2 |
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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...
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NCBI chrNW_004936486:10,506,680...10,606,272
Ensembl chrNW_004936486:10,507,097...10,602,019
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G |
Twist1 |
twist family bHLH transcription factor 1 |
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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...
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NCBI chrNW_004936546:5,331,220...5,332,669
Ensembl chrNW_004936546:5,331,863...5,332,555
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G |
Fgfr2 |
fibroblast growth factor receptor 2 |
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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...
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NCBI chrNW_004936486:10,506,680...10,606,272
Ensembl chrNW_004936486:10,507,097...10,602,019
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Fgfr3 |
fibroblast growth factor receptor 3 |
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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...
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NCBI chrNW_004936477:21,591,772...21,606,289
Ensembl chrNW_004936477:21,591,792...21,606,296
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Twist1 |
twist family bHLH transcription factor 1 |
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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...
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NCBI chrNW_004936546:5,331,220...5,332,669
Ensembl chrNW_004936546:5,331,863...5,332,555
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