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G
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Actb
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actin, beta
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:16685646 |
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NCBI chr12:16,776,664...16,779,634
Ensembl chr12:16,776,661...16,780,242
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G
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Dll3
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delta like canonical Notch ligand 3
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ISO
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DNA:nonsense mutations, missense mutation
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RGD |
PMID:10742114 |
RGD:1599775 |
NCBI chr 1:92,689,577...92,698,125
Ensembl chr 1:92,689,577...92,697,406
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G
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Efnb1
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ephrin B1
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ISO
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DNA:missense mutations, deletion
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RGD |
PMID:15124102 |
RGD:1599802 |
NCBI chr X:68,297,529...68,310,335
Ensembl chr X:68,297,492...68,349,546
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G
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Kif3a
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kinesin family member 3a
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ISS
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MouseDO |
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NCBI chr10:38,226,388...38,263,062
Ensembl chr10:38,226,741...38,260,516
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G
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Adipoq
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adiponectin, C1Q and collagen domain containing
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ISO
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ClinVar Annotator: match by term: 3MC syndrome 1
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ClinVar |
PMID:28492532 PMID:29407414 |
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NCBI chr11:91,226,524...91,240,244
Ensembl chr11:91,226,180...91,240,169
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G
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Ahsg
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alpha-2-HS-glycoprotein
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ISO
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ClinVar Annotator: match by term: 3MC syndrome 1
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ClinVar |
PMID:28492532 PMID:29407414 |
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NCBI chr11:91,625,975...91,632,583
Ensembl chr11:91,625,975...91,634,039
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G
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Colec11
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collectin sub-family member 11
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ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:21258343 |
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NCBI chr 6:50,952,357...50,984,845
Ensembl chr 6:50,952,357...50,999,493
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G
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Crygs
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crystallin, gamma S
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ISO
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ClinVar Annotator: match by term: 3MC syndrome 1
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ClinVar |
PMID:28492532 PMID:29407414 |
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NCBI chr11:91,711,755...91,716,858
Ensembl chr11:91,711,755...91,716,858
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G
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Dnajb11
|
DnaJ heat shock protein family (Hsp40) member B11
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ISO
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ClinVar Annotator: match by term: 3MC syndrome 1
|
ClinVar |
PMID:28492532 PMID:29407414 |
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NCBI chr11:91,656,334...91,672,800
Ensembl chr11:91,656,335...91,672,800
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G
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Eif4a2
|
eukaryotic translation initiation factor 4A2
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|
ISO
|
ClinVar Annotator: match by term: 3MC syndrome 1
|
ClinVar |
PMID:28492532 PMID:29407414 |
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NCBI chr11:91,268,730...91,276,738
Ensembl chr11:91,268,731...91,275,323
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G
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Fetub
|
fetuin B
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|
ISO
|
ClinVar Annotator: match by term: 3MC syndrome 1
|
ClinVar |
PMID:28492532 PMID:29407414 |
|
NCBI chr11:91,586,750...91,599,789
Ensembl chr11:91,586,748...91,599,310
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G
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Hrg
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histidine-rich glycoprotein
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ISO
|
ClinVar Annotator: match by term: 3MC syndrome 1
|
ClinVar |
PMID:28492532 PMID:29407414 |
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NCBI chr11:91,559,087...91,573,982
Ensembl chr11:91,559,091...91,573,982
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G
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Kng1
|
kininogen 1
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ISO
|
ClinVar Annotator: match by term: 3MC syndrome 1
|
ClinVar |
PMID:28492532 PMID:29407414 |
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NCBI chr11:91,317,354...91,340,148
Ensembl chr11:91,317,355...91,340,148
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G
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Masp1
|
MBL associated serine protease 1
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|
ISO
|
ClinVar Annotator: match by term: 3MC syndrome 1 | ClinVar Annotator: match by term: Craniosynostosis with lid anomalies | ClinVar Annotator: match by term: MASP1-related condition | ClinVar Annotator: match by term: MICHELS SYNDROME CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:17937425 PMID:18266249 PMID:21035106 PMID:21258343 PMID:22966085 PMID:25741868 PMID:28492532 PMID:28534045 PMID:28794230 PMID:29407414 PMID:30601195 PMID:33144682 More...
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NCBI chr11:90,839,081...90,909,922
Ensembl chr11:90,839,061...90,917,470
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G
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Rfc4
|
replication factor C subunit 4
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|
ISO
|
ClinVar Annotator: match by term: 3MC syndrome 1
|
ClinVar |
PMID:28492532 PMID:29407414 |
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NCBI chr11:91,254,273...91,268,727
Ensembl chr11:91,254,243...91,268,730
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G
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Rpl39l1
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ribosomal protein L39 like 1
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|
ISO
|
ClinVar Annotator: match by term: 3MC syndrome 1
|
ClinVar |
PMID:28492532 PMID:29407414 |
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NCBI chr10:5,962,506...5,966,621
Ensembl chr10:5,962,515...5,966,621
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G
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Rtp1
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receptor (chemosensory) transporter protein 1
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|
ISO
|
ClinVar Annotator: match by term: 3MC syndrome 1
|
ClinVar |
PMID:28492532 PMID:29407414 |
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NCBI chr11:90,927,633...90,930,149
Ensembl chr11:90,927,633...90,930,149
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G
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Snora81
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small nucleolar RNA, H/ACA box 81
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|
ISO
|
ClinVar Annotator: match by term: 3MC syndrome 1
|
ClinVar |
PMID:28492532 PMID:29407414 |
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NCBI chr10:28,278,802...28,278,949
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G
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St6gal1
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ST6 beta-galactoside alpha-2,6-sialyltransferase 1
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|
ISO
|
ClinVar Annotator: match by term: 3MC syndrome 1
|
ClinVar |
PMID:28492532 PMID:29407414 |
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NCBI chr11:91,031,481...91,158,111
Ensembl chr11:91,032,450...91,040,415
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G
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Tbccd1
|
TBCC domain containing 1
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|
ISO
|
ClinVar Annotator: match by term: 3MC syndrome 1
|
ClinVar |
PMID:28492532 PMID:29407414 |
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NCBI chr11:91,672,948...91,710,120
Ensembl chr11:91,672,964...91,709,883
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G
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Ihh
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Indian hedgehog signaling molecule
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|
ISO
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DNA:point mutations:CDS:p.P46L (137C>T), p.V190A (T569T>C) (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acrocapitofemoral dysplasia
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CTD ClinVar OMIM RGD |
PMID:12624140 PMID:12632327 PMID:25741868 PMID:28492532 PMID:34530144 PMID:12632327 More...
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RGD:1600033 |
NCBI chr 9:83,952,986...83,959,203
Ensembl chr 9:83,952,986...83,959,203
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|
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G
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Fgfr1
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Fibroblast growth factor receptor 1
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|
ISO
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DNA:missense mutation: :p.P252R (human)
|
RGD |
PMID:7874169 PMID:25251565 |
RGD:11567243, RGD:11567271 |
NCBI chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855
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G
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Fgfr2
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fibroblast growth factor receptor 2
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severity treatment
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ISO ISS
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ClinVar Annotator: match by term: ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLY | ClinVar Annotator: match by term: Acrocephalosyndactyly type I | ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly | ClinVar Annotator: match by term: Craniofacial-skeletal-dermatologic dysplasia | ClinVar Annotator: match by term: Syndactylic oxycephaly OMIM:101200 ClinVar Annotator: match by term: Acrocephalosyndactyly type I | ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly | ClinVar Annotator: match by term: Syndactylic oxycephaly DNA:missense mutation:cds:p.P253R (human) DNA:missense mutation:cds:p.A172F (human) DNA:missense mutations:cds:p.S252W, p.P253R (human) CTD Direct Evidence: marker/mechanism DNA:mutations:cds:
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OMIM ClinVar MouseDO CTD RGD |
PMID:1641873 PMID:7607643 PMID:7655462 PMID:7668257 PMID:7719333 PMID:7719344 PMID:7719345 PMID:7773284 PMID:7795583 PMID:7874170 PMID:7987400 PMID:7989400 PMID:8650126 PMID:8651276 PMID:8696350 PMID:8755573 PMID:8946174 PMID:8957519 PMID:9002682 PMID:9150725 PMID:9462761 PMID:9475591 PMID:9502772 PMID:9521581 PMID:9531645 PMID:9536098 PMID:9586546 PMID:9677057 PMID:9700203 PMID:9719378 PMID:9973282 PMID:10394936 PMID:10618369 PMID:10633130 PMID:10851026 PMID:10951518 PMID:11121055 PMID:11173845 PMID:11390973 PMID:11781872 PMID:11870239 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12357470 PMID:12400058 PMID:12884424 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15286168 PMID:15316116 PMID:15389579 PMID:15523615 PMID:15975938 PMID:16158432 PMID:16199547 PMID:16418739 PMID:16440883 PMID:16470531 PMID:16531735 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17264867 PMID:17525745 PMID:17576681 PMID:17693524 PMID:17694057 PMID:18541976 PMID:18552176 PMID:18618990 PMID:18726952 PMID:19186770 PMID:20133659 PMID:20301628 PMID:20489451 PMID:20503384 PMID:20856019 PMID:21367659 PMID:21397175 PMID:22238366 PMID:22558232 PMID:22664175 PMID:23002168 PMID:23430493 PMID:23431754 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23786770 PMID:23787031 PMID:24016645 PMID:24036790 PMID:24127277 PMID:24486773 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25157968 PMID:25271085 PMID:25425289 PMID:25706251 PMID:25741868 PMID:25867380 PMID:25937001 PMID:26325558 PMID:26380986 PMID:26429889 PMID:26467025 PMID:26619011 PMID:27079505 PMID:27240702 PMID:27323706 PMID:27527345 PMID:27683237 PMID:28166811 PMID:28492532 PMID:28611549 PMID:29109840 PMID:29848297 PMID:30919572 PMID:31145570 PMID:32879300 PMID:36474027 PMID:37086723 PMID:270283566 PMID:10735635 PMID:23532954 PMID:17694057 PMID:9677057 PMID:7668257 More...
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RGD:12801488, RGD:12801475, RGD:12801474, RGD:12801413, RGD:8547743 |
NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914
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G
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Fgfr3
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fibroblast growth factor receptor 3
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ISO
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ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly
|
ClinVar |
PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 PMID:9279764 PMID:9300656 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9843059 PMID:9950359 PMID:10094188 PMID:10861678 PMID:11424131 PMID:11746040 PMID:12362036 PMID:14613973 PMID:15241680 PMID:15915095 PMID:16501574 PMID:17552943 PMID:18000976 PMID:19215249 PMID:20301588 PMID:20301628 PMID:22016144 PMID:22622662 PMID:24728327 PMID:24864036 PMID:25271085 PMID:25614871 PMID:25741868 PMID:26740388 PMID:28492532 PMID:32238909 More...
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NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209
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G
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Twist1
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twist family bHLH transcription factor 1
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|
ISO
|
SCS,OMIM:101400;DNA:point mutation:exon:Y103X,Q119P ClinVar Annotator: match by term: ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLY | ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly CTD Direct Evidence: marker/mechanism
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ClinVar CTD RGD |
PMID:1240778 PMID:8968762 PMID:8988166 PMID:8988167 PMID:9259286 PMID:9585583 PMID:9792856 PMID:10094188 PMID:10649491 PMID:10749989 PMID:11248247 PMID:11474656 PMID:11748846 PMID:11754069 PMID:11977182 PMID:11992718 PMID:12116251 PMID:12791045 PMID:14513358 PMID:15923834 PMID:16251895 PMID:16838304 PMID:17693524 PMID:18391498 PMID:19373776 PMID:19483581 PMID:19755431 PMID:19952666 PMID:20184424 PMID:20643727 PMID:21520333 PMID:21876555 PMID:22382802 PMID:22544111 PMID:22982246 PMID:23354436 PMID:24127277 PMID:25271085 PMID:25741868 PMID:26114524 PMID:27884935 PMID:28369379 PMID:28492532 PMID:29037998 PMID:29304373 PMID:30074960 PMID:30450715 PMID:30651579 PMID:31754721 PMID:31837199 PMID:32909287 PMID:33369125 PMID:33547006 PMID:33937142 PMID:39033378 PMID:8988166 More...
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RGD:1624353 |
NCBI chr 6:56,402,309...56,404,303
Ensembl chr 6:56,398,061...56,404,965
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G
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Fam20a
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FAM20A, golgi associated secretory pathway pseudokinase
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ISO
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ClinVar Annotator: match by term: Acrodysostosis
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:95,136,799...95,197,176
Ensembl chr10:95,142,458...95,197,053
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G
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Pde4d
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phosphodiesterase 4D
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acrodysostosis
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CTD ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 2:41,748,337...43,262,567
Ensembl chr 2:42,110,838...43,262,569
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G
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Prkar1a
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protein kinase cAMP-dependent type I regulatory subunit alpha
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|
ISO ISS
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acrodysostosis OMIM:101800 | OMIM:614613
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CTD ClinVar MouseDO |
PMID:25741868 PMID:27825928 PMID:28492532 |
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NCBI chr10:95,120,537...95,139,028
Ensembl chr10:95,120,487...95,139,025
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G
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Arsg
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arylsulfatase G
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ISO
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ClinVar Annotator: match by term: Acrodysostosis 1 with or without hormone resistance
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ClinVar |
|
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NCBI chr10:94,912,094...95,063,021
Ensembl chr10:94,913,152...95,042,447
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G
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Prkar1a
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protein kinase cAMP-dependent type I regulatory subunit alpha
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ISO
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ClinVar Annotator: match by term: Acrodysostosis 1 with or without hormone resistance
|
OMIM ClinVar |
PMID:11115848 PMID:11200992 PMID:15371594 PMID:18241045 PMID:19293268 PMID:20358582 PMID:21651393 PMID:22464250 PMID:22464252 PMID:22785148 PMID:23043190 PMID:23425300 PMID:23942052 PMID:25637381 PMID:25741868 PMID:26405036 PMID:27589370 PMID:28051113 PMID:28492532 PMID:28518168 PMID:28804209 PMID:29264456 PMID:30426508 PMID:32191290 PMID:32287321 PMID:32461654 PMID:34313605 More...
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NCBI chr10:95,120,537...95,139,028
Ensembl chr10:95,120,487...95,139,025
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G
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Wipi1
|
WD repeat domain, phosphoinositide interacting 1
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|
ISO
|
ClinVar Annotator: match by term: Acrodysostosis 1 with or without hormone resistance
|
ClinVar |
|
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NCBI chr10:95,042,451...95,079,679
Ensembl chr10:95,042,441...95,079,293
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G
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Depdc1b
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DEP domain containing 1B
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|
ISO
|
ClinVar Annotator: match by term: Acrodysostosis 2 with or without hormone resistance
|
ClinVar |
PMID:21681106 PMID:24203977 |
|
NCBI chr 2:41,605,686...41,697,207
Ensembl chr 2:41,624,922...41,697,202
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G
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Pde4d
|
phosphodiesterase 4D
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|
ISO
|
ClinVar Annotator: match by term: Acrodysostosis 2 with or without hormone resistance | ClinVar Annotator: match by term: PDE4D-related condition
|
OMIM ClinVar |
PMID:11200992 PMID:12121997 PMID:15025561 PMID:21681106 PMID:22464250 PMID:22464252 PMID:23033274 PMID:24033266 PMID:24203977 PMID:25044890 PMID:25064455 PMID:25741868 PMID:26633542 PMID:28492532 PMID:30006632 PMID:33858404 More...
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NCBI chr 2:41,748,337...43,262,567
Ensembl chr 2:42,110,838...43,262,569
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G
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Polr1a
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RNA polymerase I subunit A
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ISO
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ClinVar Annotator: match by term: Acrofacial dysostosis Cincinnati type | ClinVar Annotator: match by term: POLR1A-related condition
|
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:25913037 PMID:28051070 PMID:28492532 PMID:34341987 PMID:37075751 More...
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NCBI chr 4:105,508,305...105,572,272
Ensembl chr 4:105,508,248...105,574,036
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G
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Zswim6
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zinc finger, SWIM-type containing 6
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acromelic frontonasal dysostosis
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OMIM CTD ClinVar |
PMID:25105228 PMID:25741868 PMID:26706854 PMID:28492532 |
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NCBI chr 2:40,944,617...41,112,340
Ensembl chr 2:40,946,435...41,112,519
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G
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Cyp51
|
cytochrome P450, family 51
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ISO
|
|
RGD |
PMID:21705796 |
RGD:41412188 |
NCBI chr 4:30,991,693...31,010,147
Ensembl chr 4:30,991,613...31,010,450
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G
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Fgfr2
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fibroblast growth factor receptor 2
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|
ISO
|
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Osteodysgenesis, multisynostotic with fractures DNA:missense mutations:cds:multiple (human)
|
CTD ClinVar RGD |
PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8434615 PMID:8651276 PMID:8696350 PMID:8946174 PMID:8957519 PMID:8958319 PMID:9002682 PMID:9462761 PMID:9605588 PMID:9677057 PMID:9700203 PMID:9714439 PMID:9719378 PMID:10076886 PMID:10076887 PMID:10406670 PMID:10633130 PMID:11121055 PMID:11390973 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15389579 PMID:15975938 PMID:15996217 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16531735 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17525745 PMID:20301628 PMID:20489451 PMID:20856019 PMID:21397175 PMID:22664175 PMID:23348274 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23787031 PMID:24016645 PMID:24127277 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25706251 PMID:25741868 PMID:25867380 PMID:25937001 PMID:26380986 PMID:26467025 PMID:27079505 PMID:27323706 PMID:28492532 PMID:29848297 PMID:31145570 PMID:32879300 PMID:36474027 PMID:10633130 More...
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RGD:12801485 |
NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914
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G
|
Por
|
cytochrome p450 oxidoreductase
|
|
ISO
|
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: POR Deficiency
|
CTD ClinVar |
PMID:9360545 PMID:12116245 PMID:14758361 PMID:15220035 PMID:15793702 PMID:16199547 PMID:16467261 PMID:16906539 PMID:18551037 PMID:18559916 PMID:19837910 PMID:20188793 PMID:20732302 PMID:20940534 PMID:21084761 PMID:21741353 PMID:22162478 PMID:22252407 PMID:23878291 PMID:25741868 PMID:27068427 PMID:27496950 PMID:28492532 PMID:31598952 PMID:34009138 PMID:36474027 More...
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NCBI chr12:26,587,674...26,655,612
Ensembl chr12:26,587,674...26,635,809
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|
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G
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Fgfr2
|
fibroblast growth factor receptor 2
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|
ISO
|
ClinVar Annotator: match by term: Osteodysgenesis, multisynostotic with fractures ClinVar Annotator: match by term: Trapezoidocephaly synostosis syndrome
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ClinVar |
PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8434615 PMID:8651276 PMID:8696350 PMID:8946174 PMID:8957519 PMID:8958319 PMID:9002682 PMID:9462761 PMID:9605588 PMID:9677057 PMID:9700203 PMID:9714439 PMID:9719378 PMID:10076886 PMID:10076887 PMID:10406670 PMID:10633130 PMID:10851026 PMID:11121055 PMID:11390973 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15389579 PMID:15975938 PMID:15996217 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16531735 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17525745 PMID:18552176 PMID:20301628 PMID:20489451 PMID:20856019 PMID:21367659 PMID:21397175 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23348274 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23786770 PMID:23787031 PMID:24016645 PMID:24127277 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25157968 PMID:25706251 PMID:25741868 PMID:25867380 PMID:25937001 PMID:26380986 PMID:26467025 PMID:26619011 PMID:27079505 PMID:27323706 PMID:28492532 PMID:29848297 PMID:31145570 PMID:32879300 PMID:36474027 More...
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NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914
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G
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Por
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cytochrome p450 oxidoreductase
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ISO
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ClinVar Annotator: match by term: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | ClinVar Annotator: match by term: POR Deficiency
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OMIM ClinVar |
PMID:9360545 PMID:9536098 PMID:12116245 PMID:14513299 PMID:14758361 PMID:15220035 PMID:15264278 PMID:15483095 PMID:15793702 PMID:16199547 PMID:16467261 PMID:16470797 PMID:17576681 PMID:18230729 PMID:18551037 PMID:18559916 PMID:18930113 PMID:19837910 PMID:20124576 PMID:20188793 PMID:20410220 PMID:20732302 PMID:20940534 PMID:21070833 PMID:21084761 PMID:21741353 PMID:22162478 PMID:22252407 PMID:22462747 PMID:22547083 PMID:23878291 PMID:24847272 PMID:25741868 PMID:26670660 PMID:27068427 PMID:28492532 PMID:28841001 PMID:31299979 PMID:31598952 PMID:31837199 PMID:31888681 PMID:32242900 PMID:33666875 PMID:33864926 PMID:34009138 PMID:36474027 More...
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NCBI chr12:26,587,674...26,655,612
Ensembl chr12:26,587,674...26,635,809
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G
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Fgfr2
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fibroblast growth factor receptor 2
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ISO
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ClinVar Annotator: match by term: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
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OMIM ClinVar |
PMID:7607643 PMID:7668257 PMID:7719344 PMID:7719345 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8434615 PMID:8528214 PMID:8644708 PMID:8650126 PMID:8651276 PMID:8696350 PMID:8755573 PMID:8946174 PMID:8957519 PMID:8958319 PMID:9002682 PMID:9385368 PMID:9462761 PMID:9586546 PMID:9605588 PMID:9677057 PMID:9700203 PMID:9714439 PMID:9719378 PMID:10076886 PMID:10076887 PMID:10406670 PMID:10541159 PMID:10633130 PMID:11121055 PMID:11390973 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12884424 PMID:12884434 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15316116 PMID:15389579 PMID:15975938 PMID:15996217 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16531735 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17525745 PMID:20133659 PMID:20301628 PMID:20489451 PMID:20856019 PMID:21397175 PMID:22558232 PMID:22664175 PMID:23348274 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23787031 PMID:24016645 PMID:24127277 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25271085 PMID:25706251 PMID:25741868 PMID:25759925 PMID:25867380 PMID:25937001 PMID:26362256 PMID:26380986 PMID:26467025 PMID:27079505 PMID:27323706 PMID:28492532 PMID:29848297 PMID:31145570 PMID:32879300 PMID:36474027 More...
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NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914
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G
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Ppp3ca
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protein phosphatase 3 catalytic subunit alpha
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ISO
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ClinVar Annotator: match by term: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | ClinVar Annotator: match by term: PPP3CA-related condition
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OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29432562 PMID:33963760 |
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NCBI chr 2:227,839,058...228,113,560
Ensembl chr 2:227,839,062...228,113,554
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G
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Gja1
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gap junction protein, alpha 1
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive
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OMIM CTD ClinVar |
PMID:11146471 PMID:23951358 PMID:25741868 PMID:28492532 |
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NCBI chr20:36,302,490...36,315,010
Ensembl chr20:36,302,352...36,319,689
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G
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Fbln1
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fibulin 1
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ISO
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ClinVar Annotator: match by term: Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects
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ClinVar |
PMID:24084572 |
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NCBI chr 7:118,190,347...118,269,965
Ensembl chr 7:118,190,478...118,269,965
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G
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Arhgap39
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Rho GTPase activating protein 39
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ISO
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ClinVar Annotator: match by term: Baller-Gerold syndrome
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ClinVar |
PMID:12734318 PMID:12952869 PMID:28492532 |
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NCBI chr 7:110,326,918...110,419,500
Ensembl chr 7:110,326,918...110,419,460
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G
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C7h8orf82
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similar to human chromosome 8 open reading frame 82
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ISO
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ClinVar Annotator: match by term: Baller-Gerold syndrome
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ClinVar |
PMID:12734318 PMID:12952869 PMID:28492532 |
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NCBI chr 7:108,443,772...108,446,116
Ensembl chr 7:110,324,409...110,326,752
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G
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Gpt
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glutamic--pyruvic transaminase
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ISO
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ClinVar Annotator: match by term: Baller-Gerold syndrome
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ClinVar |
PMID:12734318 PMID:28492532 |
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NCBI chr 7:110,295,599...110,300,134
Ensembl chr 7:110,296,206...110,300,160
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G
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Lrrc14
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leucine rich repeat containing 14
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ISO
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ClinVar Annotator: match by term: Baller-Gerold syndrome
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ClinVar |
PMID:12734318 PMID:12952869 PMID:28492532 |
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NCBI chr 7:110,311,384...110,317,757
Ensembl chr 7:110,311,369...110,317,760
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G
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Lrrc24
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leucine rich repeat containing 24
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ISO
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ClinVar Annotator: match by term: Baller-Gerold syndrome
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ClinVar |
PMID:12734318 PMID:12952869 PMID:28492532 |
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NCBI chr 7:108,437,296...108,444,561
Ensembl chr 7:110,317,020...110,325,074
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G
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Mfsd3
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major facilitator superfamily domain containing 3
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ISO
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ClinVar Annotator: match by term: Baller-Gerold syndrome
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ClinVar |
PMID:12734318 PMID:28492532 |
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NCBI chr 7:110,300,254...110,304,108
Ensembl chr 7:110,302,018...110,304,112
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G
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Recql4
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RecQ like helicase 4
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ISO
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ClinVar Annotator: match by term: Baller-Gerold syndrome | ClinVar Annotator: match by term: Craniosynostosis with radial defects CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:9536098 PMID:9878247 PMID:10319867 PMID:10678659 PMID:12734318 PMID:12838562 PMID:12952869 PMID:15221963 PMID:15897384 PMID:15964893 PMID:16199547 PMID:16630167 PMID:17250521 PMID:17250975 PMID:17372760 PMID:17576681 PMID:18504617 PMID:18616953 PMID:18716613 PMID:19291770 PMID:20113479 PMID:20503338 PMID:21143835 PMID:21418107 PMID:22730300 PMID:22885111 PMID:23238538 PMID:23899764 PMID:24033266 PMID:24518840 PMID:24635570 PMID:24728327 PMID:25120469 PMID:25326635 PMID:25640679 PMID:25741868 PMID:25915596 PMID:25966250 PMID:26125302 PMID:26491355 PMID:26556299 PMID:27247962 PMID:27352193 PMID:27425854 PMID:27498913 PMID:28039508 PMID:28076423 PMID:28202063 PMID:28358413 PMID:28423363 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:30947698 PMID:30995915 PMID:31406625 PMID:31502745 PMID:31604778 PMID:31829210 PMID:31874108 PMID:32139749 PMID:32191290 PMID:32482547 PMID:32659497 PMID:32659967 PMID:32729250 PMID:33046774 PMID:33057194 PMID:33077847 PMID:33144682 PMID:33294214 PMID:33606809 PMID:33674555 PMID:33999380 PMID:34006472 PMID:34155702 PMID:34308366 PMID:34869606 PMID:35171259 PMID:36315513 More...
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NCBI chr 7:110,304,092...110,311,426
Ensembl chr 7:110,304,094...110,311,258
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G
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Zfp251
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zinc finger protein 251
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ISO
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ClinVar Annotator: match by term: Baller-Gerold syndrome
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ClinVar |
PMID:12734318 PMID:12952869 PMID:28492532 |
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NCBI chr 7:110,449,194...110,479,218
Ensembl chr 7:110,449,194...110,479,218
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G
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Ripk4
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receptor-interacting serine-threonine kinase 4
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bartsocas-Papas syndrome 1 | ClinVar Annotator: match by term: MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE
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OMIM CTD ClinVar |
PMID:10925380 PMID:15264293 PMID:22197488 PMID:22197489 PMID:23074676 PMID:23610050 PMID:25326635 PMID:25741868 PMID:26752647 PMID:28492532 PMID:28940926 More...
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NCBI chr11:50,591,926...50,614,169
Ensembl chr11:50,591,936...50,614,169
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G
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Chuk
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component of inhibitor of nuclear factor kappa B kinase complex
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ISO
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ClinVar Annotator: match by term: Bartsocas-Papas syndrome 2
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OMIM ClinVar |
PMID:25691407 |
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NCBI chr 1:252,908,748...252,944,273
Ensembl chr 1:252,908,749...252,944,273
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G
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Med25
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mediator complex subunit 25
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ISO
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ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome
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OMIM ClinVar |
PMID:25488817 PMID:25527630 PMID:25741868 PMID:25792360 PMID:28170084 PMID:28492532 PMID:30039206 PMID:32324310 PMID:32371413 PMID:32376792 PMID:32816121 PMID:37091313 More...
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NCBI chr 1:104,496,447...104,513,061
Ensembl chr 1:104,496,447...104,512,391
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G
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Fgfr2
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fibroblast growth factor receptor 2
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ISO ISS
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ClinVar Annotator: match by term: Beare-Stevenson cutis gyrata syndrome OMIM:123790 CTD Direct Evidence: marker/mechanism
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OMIM ClinVar MouseDO CTD |
PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8651276 PMID:8696350 PMID:8957519 PMID:9002682 PMID:9462761 PMID:9677057 PMID:9700203 PMID:9719378 PMID:10835640 PMID:11121055 PMID:11390973 PMID:11781872 PMID:11950815 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12187509 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15389579 PMID:15975938 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16531735 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17264867 PMID:17449949 PMID:17525745 PMID:18247426 PMID:19610084 PMID:20301628 PMID:20489451 PMID:20856019 PMID:21397175 PMID:22427236 PMID:22664175 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23787031 PMID:24016645 PMID:24127277 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25425289 PMID:25706251 PMID:25741868 PMID:25867380 PMID:25937001 PMID:26325558 PMID:26380986 PMID:26429889 PMID:26467025 PMID:27079505 PMID:27323706 PMID:28492532 PMID:28777933 PMID:29848297 PMID:31145570 PMID:32879300 PMID:36474027 More...
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NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914
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G
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Asxl1
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ASXL transcriptional regulator 1
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ISO
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ClinVar Annotator: match by term: Bohring-Opitz syndrome CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:16412590 PMID:18414213 PMID:20880116 PMID:21576631 PMID:21706002 PMID:21881046 PMID:22031865 PMID:22058207 PMID:22419483 PMID:22489043 PMID:23018865 PMID:23619563 PMID:23690417 PMID:24033266 PMID:24255920 PMID:24442206 PMID:24458439 PMID:24496303 PMID:24695057 PMID:24728327 PMID:25106414 PMID:25131622 PMID:25326635 PMID:25596267 PMID:25652455 PMID:25741868 PMID:25921057 PMID:26364555 PMID:26467025 PMID:26633542 PMID:27069254 PMID:27276561 PMID:27895058 PMID:28492532 PMID:29681105 PMID:30013160 PMID:30147881 PMID:30158690 PMID:31692235 PMID:31785789 PMID:31969346 PMID:32581362 PMID:33529703 PMID:35361921 PMID:39825153 More...
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NCBI chr 3:162,273,828...162,341,742
Ensembl chr 3:162,273,828...162,341,742
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G
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Klhl7
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kelch-like family member 7
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ISO
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ClinVar Annotator: match by term: Bohring-Opitz syndrome
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ClinVar |
PMID:25741868 |
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NCBI chr 4:11,898,766...11,947,796
Ensembl chr 4:11,898,769...11,947,796
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G
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Rps23
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ribosomal protein S23
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ISO
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ClinVar Annotator: match by term: Brachycephaly, trichomegaly, and developmental delay
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OMIM ClinVar |
PMID:25741868 PMID:28257692 |
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NCBI chr 2:23,814,517...23,816,087
Ensembl chr 2:23,814,497...23,816,088
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G
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Atrx
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ATRX, chromatin remodeler
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ISO
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RGD |
PMID:23892236 |
RGD:9586033 |
NCBI chr X:74,916,548...75,062,880
Ensembl chr X:74,916,548...75,062,880
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G
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Bmpr1b
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bone morphogenetic protein receptor type 1B
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ISO
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ClinVar Annotator: match by term: Brachydactyly
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ClinVar |
PMID:22374147 PMID:25741868 PMID:25758993 PMID:28492532 |
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NCBI chr 2:233,211,525...233,544,344
Ensembl chr 2:233,211,525...233,544,311
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G
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Gdf5
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growth differentiation factor 5
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ISO
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ClinVar Annotator: match by term: Brachydactyly
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ClinVar |
PMID:17384641 PMID:25741868 PMID:28492532 |
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NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:164,914,401...164,918,593
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G
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Gnas
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GNAS complex locus
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:12719376 |
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NCBI chr 3:183,489,648...183,554,570
Ensembl chr 3:183,503,243...183,554,536
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G
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Hdac4
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histone deacetylase 4
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:20691407 |
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NCBI chr 9:99,950,972...100,200,994
Ensembl chr 9:99,955,116...100,197,637
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G
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Hoxd13
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homeo box D13
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ISO
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DNA:missense mutations:exon:p.S308C (923C>G), p.I314L (940A>C) (human)
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RGD |
PMID:12649808 |
RGD:12743593 |
NCBI chr 3:79,978,077...79,981,393
Ensembl chr 3:79,978,076...79,981,393
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G
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Ihh
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Indian hedgehog signaling molecule
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ISO
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ClinVar Annotator: match by term: Brachydactyly
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ClinVar |
PMID:25741868 |
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NCBI chr 9:83,952,986...83,959,203
Ensembl chr 9:83,952,986...83,959,203
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G
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Iqce
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IQ motif containing E
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ISO
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ClinVar Annotator: match by term: Brachydactyly
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ClinVar |
PMID:25741868 PMID:28488682 PMID:31549751 PMID:35599849 |
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NCBI chr12:19,057,060...19,096,626
Ensembl chr12:19,056,307...19,096,624
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G
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Nipbl
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NIPBL, cohesin loading factor
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ISO
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ClinVar Annotator: match by term: Brachydactyly
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ClinVar |
PMID:25741868 |
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NCBI chr 2:59,126,676...59,314,841
Ensembl chr 2:59,126,676...59,293,277
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G
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Prmt7
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protein arginine methyltransferase 7
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ISO
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ClinVar Annotator: match by term: Brachydactyly
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ClinVar |
PMID:25741868 PMID:26437029 PMID:27718516 PMID:28492532 PMID:28902392 |
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NCBI chr19:51,020,596...51,071,401
Ensembl chr19:51,020,512...51,072,424
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G
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Ror2
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receptor tyrosine kinase-like orphan receptor 2
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ISO
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ClinVar Annotator: match by term: Brachydactyly
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ClinVar |
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NCBI chr17:12,124,749...12,300,044
Ensembl chr17:12,124,749...12,300,044
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G
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Sim1
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SIM bHLH transcription factor 1
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ISO
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ClinVar Annotator: match by term: Brachydactyly
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ClinVar |
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NCBI chr20:55,409,814...55,489,450
Ensembl chr20:55,410,577...55,489,449
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G
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Slc26a2
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solute carrier family 26 member 2
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ISO
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associated with Diastrophic Dysplasia;DNA:mutations:css:p.R279W, p.R178X, p.N425D,c.727-1G>C (human)
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RGD |
PMID:21155763 |
RGD:11072411 |
NCBI chr18:56,918,662...56,937,032
Ensembl chr18:56,923,337...56,937,012
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G
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Smad4
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SMAD family member 4
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:22158539 |
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NCBI chr18:69,518,988...69,549,684
Ensembl chr18:69,518,988...69,549,684
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G
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Trps1
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transcriptional repressor GATA binding 1
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ISO
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ClinVar Annotator: match by term: Brachydactyly
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ClinVar |
PMID:11112658 PMID:18946009 PMID:24502542 PMID:25741868 PMID:25792522 PMID:28468609 PMID:28492532 PMID:30541476 More...
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NCBI chr 7:83,806,121...84,032,609
Ensembl chr 7:83,811,497...84,031,786
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G
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Tulp1
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TUB like protein 1
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ISO
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ClinVar Annotator: match by term: Brachydactyly
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ClinVar |
PMID:15024725 PMID:19339744 PMID:23847139 PMID:24265693 PMID:25741868 PMID:28492532 PMID:31549751 More...
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NCBI chr20:6,413,901...6,425,833
Ensembl chr20:6,413,901...6,425,833
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G
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Gdf5
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growth differentiation factor 5
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ISO
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DNA:missense mutation:cds:c.1195C>T(human)
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RGD |
PMID:20683927 |
RGD:12437076 |
NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:164,914,401...164,918,593
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G
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Ihh
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Indian hedgehog signaling molecule
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ISO ISS
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DNA:missense mutations:CDS:p.E95K (283G>A), p.D100E (300C>A), p.E131K (391G>A) (human) ClinVar Annotator: match by term: Brachydactyly type A1 | ClinVar Annotator: match by term: FARABEE-TYPE BRACHYDACTYLY | ClinVar Annotator: match by term: IHH-related condition CTD Direct Evidence: marker/mechanism OMIM:112500 DNA:missense mutation:exon:p.E95G (284A>G) (human) DNA:deletion, missense mutation:exon:p.E95del (c.283_285delGAG), p.D100E (c.300C>G) (human) DNA:missense mutation:exon:p.158R>C (c.472C>T) (human) DNA:deletion:exon:p.E95del (c.283_285delGAG) (human) DNA:missense mutations:exon:p.R128Q (c.383G>A), p.T130N (c.389C>A) (human) DNA:missense mutation: :p.N100D (298G>A) (human) DNA:missense mutation: :p.T154I (461C>T) (human)
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ClinVar CTD MouseDO OMIM RGD |
PMID:11455389 PMID:12384778 PMID:12525541 PMID:12566523 PMID:14043746 PMID:15886999 PMID:16131710 PMID:16871364 PMID:17486609 PMID:18794898 PMID:19252479 PMID:19277064 PMID:21537345 PMID:25741868 PMID:28492532 PMID:28794911 PMID:29155992 PMID:30602027 PMID:32311039 PMID:34530144 PMID:35846898 PMID:11455389 PMID:12525541 PMID:25696018 PMID:19464397 PMID:18629882 PMID:19277064 PMID:12384778 PMID:16871364 More...
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RGD:1600032, RGD:12910974, RGD:11535949, RGD:12910970, RGD:12910965, RGD:12910964, RGD:12910945, RGD:12910944 |
NCBI chr 9:83,952,986...83,959,203
Ensembl chr 9:83,952,986...83,959,203
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G
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Shh
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sonic hedgehog signaling molecule
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ISO
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RGD |
PMID:15841179 |
RGD:12798572 |
NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:7,687,846...7,697,901
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G
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Gdf5
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growth differentiation factor 5
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ISO ISS
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OMIM:615072 ClinVar Annotator: match by term: Brachydactyly type A1C | ClinVar Annotator: match by term: Brachydactyly, type a1, c
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OMIM MouseDO ClinVar |
PMID:9288098 PMID:20683927 PMID:25741868 |
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NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:164,914,401...164,918,593
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G
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Bmpr1b
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bone morphogenetic protein receptor type 1B
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ISO
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ClinVar Annotator: match by term: Brachydactyly type A1D | ClinVar Annotator: match by term: Brachydactyly, type a1, d
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OMIM ClinVar |
PMID:25741868 PMID:25758993 PMID:28492532 |
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NCBI chr 2:233,211,525...233,544,344
Ensembl chr 2:233,211,525...233,544,311
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G
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Bmp2
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bone morphogenetic protein 2
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Type A2 brachydactyly
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OMIM CTD ClinVar |
PMID:19327734 PMID:21357617 PMID:25741868 PMID:28492532 |
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NCBI chr 3:141,264,648...141,275,416
Ensembl chr 3:141,264,646...141,274,760
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G
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Bmpr1b
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bone morphogenetic protein receptor type 1B
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ISO
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ClinVar Annotator: match by term: Type A2 brachydactyly CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:9536098 PMID:14523231 PMID:15805157 PMID:16199547 PMID:16957682 PMID:17576681 PMID:22374147 PMID:24129431 PMID:25741868 PMID:25758993 PMID:28418932 PMID:28492532 PMID:31769494 PMID:33486847 PMID:35034853 More...
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NCBI chr 2:233,211,525...233,544,344
Ensembl chr 2:233,211,525...233,544,311
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G
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Gdf5
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growth differentiation factor 5
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ISO ISS
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ClinVar Annotator: match by term: Mohr-Wriedt type brachydactyly | ClinVar Annotator: match by term: Type A2 brachydactyly OMIM:112600 CTD Direct Evidence: marker/mechanism
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OMIM ClinVar MouseDO CTD |
PMID:8589725 PMID:9288091 PMID:12121354 PMID:12357473 PMID:16014698 PMID:16127465 PMID:18203755 PMID:21976273 PMID:25741868 PMID:27577507 PMID:28492532 More...
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NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:164,914,401...164,918,593
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G
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Hoxd13
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homeo box D13
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ISO
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DNA:deletion:exon:p.A53_A59del (c.157_177del) (human)
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RGD |
PMID:17236141 |
RGD:12738470 |
NCBI chr 3:79,978,077...79,981,393
Ensembl chr 3:79,978,076...79,981,393
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G
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Ror2
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receptor tyrosine kinase-like orphan receptor 2
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ISO
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ClinVar Annotator: match by term: Brachydactyly type B1 CTD Direct Evidence: marker/mechanism DNA:nonsense mutation:cds:c.2278C>T, p.Q760X (human) DNA:deletion:exon:c.1396-1398delAA, (human) DNA:missense mutation:cds:c.2265C>A,p.Y755X(human) DNA:deletion mutation:exon:c.2243delC,p.W749fsX24(human) DNA:mutation:c.2273C>A; p.S758X (human)
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OMIM ClinVar CTD RGD |
PMID:641944 PMID:9536098 PMID:10700182 PMID:10932186 PMID:10932187 PMID:10986040 PMID:12815588 PMID:12919145 PMID:15952209 PMID:16049033 PMID:16199547 PMID:17101003 PMID:17576681 PMID:17665217 PMID:18252861 PMID:18414213 PMID:19461659 PMID:19533773 PMID:19640924 PMID:25741868 PMID:26284319 PMID:28492532 PMID:31680123 PMID:32502767 PMID:33937263 PMID:23238279 PMID:24954533 PMID:21377971 PMID:19461659 PMID:25696018 More...
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RGD:11537345, RGD:11535953, RGD:11535952, RGD:11535951, RGD:11535949 |
NCBI chr17:12,124,749...12,300,044
Ensembl chr17:12,124,749...12,300,044
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G
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Nog
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noggin
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no_association
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ISO
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ClinVar Annotator: match by term: Brachydactyly type B2 DNA:mutation:cds:p.G92E(human) DNA:mutations:cds:
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OMIM ClinVar RGD |
PMID:9851982 PMID:10080184 PMID:11160400 PMID:11545688 PMID:11857750 PMID:17668388 PMID:18440889 PMID:25741868 PMID:28492532 PMID:29159868 PMID:34008892 PMID:22529972 PMID:17668388 More...
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RGD:12801483, RGD:12801481 |
NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,625,875...74,628,103
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G
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Gdf5
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growth differentiation factor 5
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ISO ISS
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ClinVar Annotator: match by term: Brachydactyly type C OMIM:113100 CTD Direct Evidence: marker/mechanism DNA:mutation:cds:p.M173V(517A>G)(human) DNA:missense mutations:cds:p.T201P,p.L263P (human) DNA:missense mutation:cds:c.527T>C(p.L176P)(human)
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OMIM ClinVar MouseDO CTD RGD |
PMID:8589725 PMID:9024575 PMID:9288091 PMID:12121354 PMID:12357473 PMID:12567410 PMID:12900894 PMID:13953230 PMID:14735582 PMID:16957682 PMID:18203755 PMID:18283415 PMID:25741868 PMID:27577507 PMID:28492532 PMID:33333243 PMID:14735582 PMID:25092592 PMID:23812741 More...
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RGD:12738202, RGD:12738200, RGD:12437083 |
NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:164,914,401...164,918,593
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G
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Hoxd13
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homeo box D13
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ISO
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ClinVar Annotator: match by term: Brachydactyly type D | ClinVar Annotator: match by term: STUB THUMB CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:12620993 PMID:12649808 PMID:16314414 PMID:24239177 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:79,978,077...79,981,393
Ensembl chr 3:79,978,076...79,981,393
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G
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Hdac4
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histone deacetylase 4
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ISO
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ClinVar Annotator: match by term: Brachydactyly syndrome type E
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ClinVar |
PMID:10958686 PMID:11486037 PMID:25741868 PMID:33537682 |
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NCBI chr 9:99,950,972...100,200,994
Ensembl chr 9:99,955,116...100,197,637
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G
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Hoxd13
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homeo box D13
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ISO
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ClinVar Annotator: match by term: Brachydactyly type E1
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OMIM ClinVar |
PMID:8614804 PMID:9207113 PMID:12414828 PMID:15333588 PMID:18399101 PMID:19075394 PMID:22233338 PMID:22373878 PMID:22406499 PMID:25741868 PMID:28492532 PMID:31870337 PMID:34159400 PMID:34777468 More...
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NCBI chr 3:79,978,077...79,981,393
Ensembl chr 3:79,978,076...79,981,393
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G
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Pth1r
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parathyroid hormone 1 receptor
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ISO
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ClinVar Annotator: match by term: Brachydactyly type E1
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:119,572,295...119,597,405
Ensembl chr 8:119,575,868...119,598,108
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G
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Pthlh
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parathyroid hormone-like hormone
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ISO
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ClinVar Annotator: match by term: Brachydactyly type E2 | ClinVar Annotator: match by term: PTHLH-related condition
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OMIM ClinVar |
PMID:20170896 PMID:25741868 PMID:25801215 PMID:26640227 PMID:26763883 PMID:29947179 PMID:31283647 PMID:38702915 More...
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NCBI chr 4:181,919,400...181,930,454
Ensembl chr 4:181,919,400...181,930,454
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G
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Hdac4
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histone deacetylase 4
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:24715439 |
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NCBI chr 9:99,950,972...100,200,994
Ensembl chr 9:99,955,116...100,197,637
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G
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Hoxd13
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homeo box D13
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ISO
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DNA:nonsense mutation:exon:p.R274X (c.820C>T) (human) ClinVar Annotator: match by term: Brachydactyly type E
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ClinVar RGD |
PMID:12620993 PMID:12649808 PMID:16314414 PMID:22233338 |
RGD:12743596 |
NCBI chr 3:79,978,077...79,981,393
Ensembl chr 3:79,978,076...79,981,393
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G
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Hoxd13
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homeo box D13
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ISO
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ClinVar Annotator: match by term: Brachydactyly-syndactyly syndrome | ClinVar Annotator: match by term: Brachydactyly-syndactyly-oligodactyly syndrome CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:17236141 PMID:22233338 PMID:23995701 PMID:24239177 PMID:25741868 |
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NCBI chr 3:79,978,077...79,981,393
Ensembl chr 3:79,978,076...79,981,393
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G
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Cd96
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CD96 molecule
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ISO
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ClinVar Annotator: match by term: C syndrome | ClinVar Annotator: match by term: CD96-related condition
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OMIM ClinVar |
PMID:16199547 PMID:17847009 PMID:25741868 PMID:28492532 PMID:34906502 PMID:37673932 More...
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NCBI chr11:68,164,926...68,239,266
Ensembl chr11:68,164,872...68,241,937
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G
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Pitx1
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paired-like homeodomain 1
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ISO
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ClinVar Annotator: match by term: Liebenberg syndrome
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:8,794,051...8,805,477
Ensembl chr17:8,799,319...8,805,476
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G
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Bag2
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BAG cochaperone 2
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ISO
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ClinVar Annotator: match by term: Acrocephalopolysyndactyly Type II | ClinVar Annotator: match by term: Carpenter syndrome
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ClinVar |
PMID:25741868 |
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NCBI chr 9:43,465,993...43,476,637
Ensembl chr 9:43,465,995...43,476,752
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G
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Megf8
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multiple EGF-like-domains 8
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ISO ISS
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CTD Direct Evidence: marker/mechanism OMIM:201000 | OMIM:614976 ClinVar Annotator: match by term: Carpenter syndrome
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CTD MouseDO ClinVar |
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NCBI chr 1:90,030,057...90,079,423
Ensembl chr 1:90,030,388...90,079,422
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G
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Rab23
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RAB23, member RAS oncogene family
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acrocephalopolysyndactyly Type II | ClinVar Annotator: match by term: Carpenter syndrome
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CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17503333 PMID:17576681 PMID:20358613 PMID:21412941 PMID:23599695 PMID:24458945 PMID:25168863 PMID:25741868 PMID:27872624 PMID:28213671 PMID:28492532 More...
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NCBI chr 9:43,440,047...43,463,327
Ensembl chr 9:43,440,273...43,463,325
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G
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Bag2
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BAG cochaperone 2
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ISO
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ClinVar Annotator: match by term: Carpenter syndrome 1
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ClinVar |
PMID:25741868 |
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NCBI chr 9:43,465,993...43,476,637
Ensembl chr 9:43,465,995...43,476,752
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G
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Rab23
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RAB23, member RAS oncogene family
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ISO
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ClinVar Annotator: match by term: Carpenter syndrome 1 | ClinVar Annotator: match by term: RAB23-related condition
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OMIM ClinVar |
PMID:9536098 PMID:17503333 PMID:17576681 PMID:20358613 PMID:21412941 PMID:23599695 PMID:24458945 PMID:25741868 PMID:27872624 PMID:28213671 PMID:28492532 More...
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NCBI chr 9:43,440,047...43,463,327
Ensembl chr 9:43,440,273...43,463,325
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G
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Actmap
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actin maturation protease
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ISO
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ClinVar Annotator: match by term: Carpenter syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 1:91,618,012...91,627,490
Ensembl chr 1:91,617,859...91,627,489
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G
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Akt2
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AKT serine/threonine kinase 2
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ISO
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ClinVar Annotator: match by term: Carpenter syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 1:92,004,705...92,061,420
Ensembl chr 1:92,014,859...92,061,420
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G
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Arhgef1
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Rho guanine nucleotide exchange factor 1
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ISO
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ClinVar Annotator: match by term: Carpenter syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 1:89,626,884...89,648,823
Ensembl chr 1:89,628,266...89,649,067
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G
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Atp1a3
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ATPase Na+/K+ transporting subunit alpha 3
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ISO
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ClinVar Annotator: match by term: Carpenter syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 1:89,700,645...89,729,782
Ensembl chr 1:89,700,649...89,729,825
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G
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Axl
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Axl receptor tyrosine kinase
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ISO
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ClinVar Annotator: match by term: Carpenter syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 1:90,392,864...90,424,123
Ensembl chr 1:90,392,864...90,424,009
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G
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B3gnt8
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UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8
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ISO
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ClinVar Annotator: match by term: Carpenter syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 1:90,263,387...90,266,292
Ensembl chr 1:90,263,827...90,270,287
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G
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B9d2
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B9 domain containing 2
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ISO
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ClinVar Annotator: match by term: Carpenter syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 1:90,315,472...90,323,143
Ensembl chr 1:90,317,200...90,323,175
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G
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Bckdha
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branched chain keto acid dehydrogenase E1 subunit alpha
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ISO
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ClinVar Annotator: match by term: Carpenter syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 1:90,266,731...90,295,521
Ensembl chr 1:90,261,629...90,295,749
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G
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Blvrb
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biliverdin reductase B
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ISO
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ClinVar Annotator: match by term: Carpenter syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 1:91,866,258...91,883,921
Ensembl chr 1:91,866,258...91,884,225
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G
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C1h19orf47
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similar to human chromosome 19 open reading frame 47
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ISO
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ClinVar Annotator: match by term: Carpenter syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 1:91,971,879...92,010,938
Ensembl chr 1:91,971,931...91,999,771
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G
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Ccdc97
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coiled-coil domain containing 97
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ISO
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ClinVar Annotator: match by term: Carpenter syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 1:90,347,003...90,354,809
Ensembl chr 1:90,347,008...90,354,764
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G
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Cd79a
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CD79a molecule
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ISO
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ClinVar Annotator: match by term: Carpenter syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 1:89,621,460...89,625,813
Ensembl chr 1:89,621,460...89,625,812
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G
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Ceacam15
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CEA cell adhesion molecule 15
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ISO
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ClinVar Annotator: match by term: Carpenter syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 1:86,496,487...86,501,454
Ensembl chr 1:86,496,897...86,500,774
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G
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Ceacam4
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CEA cell adhesion molecule 4
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ISO
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ClinVar Annotator: match by term: Carpenter syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 1:89,504,555...89,510,831
Ensembl chr 1:89,504,555...89,510,831
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G
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Ceacam6
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CEA cell adhesion molecule 6
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ISO
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ClinVar Annotator: match by term: Carpenter syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 1:89,544,415...89,562,552
Ensembl chr 1:89,544,400...89,562,552
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G
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Cic
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capicua transcriptional repressor
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ISO
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ClinVar Annotator: match by term: Carpenter syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 1:89,980,660...90,008,357
Ensembl chr 1:89,981,743...90,008,354
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G
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Cnfn
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cornifelin
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ISO
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ClinVar Annotator: match by term: Carpenter syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 1:90,079,409...90,081,556
Ensembl chr 1:90,078,552...90,081,556
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G
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Coq8b
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coenzyme Q8B
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ISO
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ClinVar Annotator: match by term: Carpenter syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 1:91,653,241...91,676,822
Ensembl chr 1:91,654,225...91,676,819
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G
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Cyp2a1
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cytochrome P450, family 2, subfamily a, polypeptide 1
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ISO
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ClinVar Annotator: match by term: Carpenter syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 1:91,359,278...91,372,554
Ensembl chr 1:91,359,272...91,389,730
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G
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Cyp2a3
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cytochrome P450, family 2, subfamily a, polypeptide 3
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ISO
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ClinVar Annotator: match by term: Carpenter syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 1:91,299,584...91,307,650
Ensembl chr 1:91,299,561...91,307,649
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G
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Cyp2b3
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cytochrome P450, family 2, subfamily b, polypeptide 3
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ISO
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ClinVar Annotator: match by term: Carpenter syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 1:90,780,468...90,859,852
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G
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Cyp2f4
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cytochrome P450, family 2, subfamily f, polypeptide 4
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ISO
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ClinVar Annotator: match by term: Carpenter syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 1:91,543,768...91,557,553
Ensembl chr 1:91,543,768...91,557,553
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G
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Cyp2s1
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cytochrome P450, family 2, subfamily s, polypeptide 1
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ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
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NCBI chr 1:90,437,741...90,453,073
Ensembl chr 1:90,438,224...90,453,073
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G
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Dedd2
|
death effector domain containing 2
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ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 1:89,916,906...89,934,663
Ensembl chr 1:89,919,524...89,936,804
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G
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Dll3
|
delta like canonical Notch ligand 3
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|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,689,577...92,698,125
Ensembl chr 1:92,689,577...92,697,406
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G
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Dmac2
|
distal membrane arm assembly component 2
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|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:90,250,262...90,262,592
Ensembl chr 1:90,243,532...90,262,594
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G
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Dmrtc2
|
DMRT-like family C2
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ISO
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ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:89,594,120...89,601,761
Ensembl chr 1:89,594,215...89,601,762
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G
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Dyrk1b
|
dual specificity tyrosine phosphorylation regulated kinase 1B
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|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,606,743...92,624,089
Ensembl chr 1:92,607,303...92,614,744
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G
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Egln2
|
egl-9 family hypoxia-inducible factor 2
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ISO
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ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:91,579,205...91,586,985
Ensembl chr 1:91,579,206...91,587,385
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G
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Eid2
|
EP300 interacting inhibitor of differentiation 2
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ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,665,837...92,667,162
Ensembl chr 1:92,665,481...92,675,307
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G
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Eid2b
|
EP300 interacting inhibitor of differentiation 2B
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ISO
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ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
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NCBI chr 1:92,673,119...92,674,899
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G
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Erf
|
Ets2 repressor factor
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ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:89,957,760...89,966,213
Ensembl chr 1:89,957,760...89,966,213
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G
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Erich4
|
glutamate-rich 4
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ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
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NCBI chr 1:90,251,345...90,253,085
Ensembl chr 1:90,251,345...90,253,085
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G
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Exosc5
|
exosome component 5
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|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:90,295,495...90,305,047
Ensembl chr 1:90,293,797...90,305,046
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G
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Fbl
|
fibrillarin
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|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,597,407...92,606,507
Ensembl chr 1:92,597,258...92,606,506
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G
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Fcgbp
|
Fc gamma binding protein
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|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,502,461...92,540,658
Ensembl chr 1:92,499,498...92,540,658
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G
|
Grik5
|
glutamate ionotropic receptor kainate type subunit 5
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|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:89,733,736...89,795,769
Ensembl chr 1:89,733,741...89,794,962
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G
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Gsk3a
|
glycogen synthase kinase 3 alpha
|
|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:89,943,669...89,953,514
Ensembl chr 1:89,943,669...89,953,593
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G
|
Hipk4
|
homeodomain interacting protein kinase 4
|
|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:91,938,308...91,948,680
Ensembl chr 1:91,938,278...91,948,683
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G
|
Hnrnpul1
|
heterogeneous nuclear ribonucleoprotein U-like 1
|
|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:90,356,182...90,391,923
Ensembl chr 1:90,356,182...90,390,370
|
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G
|
Itpkc
|
inositol-trisphosphate 3-kinase C
|
|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:91,628,606...91,650,182
Ensembl chr 1:91,628,608...91,653,350
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G
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Lgals5
|
galectin 5
|
|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr10:64,351,976...64,355,137
Ensembl chr10:64,351,964...64,355,180
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G
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Lipe
|
lipase E, hormone sensitive type
|
|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:90,093,433...90,112,117
Ensembl chr 1:90,093,433...90,112,117
|
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G
|
Ltbp4
|
latent transforming growth factor beta binding protein 4
|
|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:91,727,769...91,759,822
Ensembl chr 1:91,727,769...91,760,006
|
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G
|
Lypd4
|
Ly6/Plaur domain containing 4
|
|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:89,588,368...89,594,287
Ensembl chr 1:89,588,368...89,593,890
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G
|
Map3k10
|
mitogen activated protein kinase kinase kinase 10
|
|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,083,376...92,101,676
Ensembl chr 1:92,083,376...92,101,676
|
|
G
|
Megf8
|
multiple EGF-like-domains 8
|
|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2 | ClinVar Annotator: match by term: MEGF8-related condition
|
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23063620 PMID:25326635 PMID:25741868 PMID:28492532 PMID:28914635 PMID:29168297 PMID:34257423 PMID:35982159 PMID:35982160 PMID:37853563 More...
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NCBI chr 1:90,030,057...90,079,423
Ensembl chr 1:90,030,388...90,079,422
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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 |
|
NCBI chr 1:91,601,326...91,603,019
Ensembl chr 1:91,601,327...91,603,019
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G
|
Numbl
|
NUMB-like, endocytic adaptor protein
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|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:91,677,437...91,701,415
Ensembl chr 1:91,677,242...91,701,424
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G
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Pafah1b3
|
platelet-activating factor acetylhydrolase 1b, catalytic subunit 3
|
|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:90,009,085...90,011,611
Ensembl chr 1:90,009,085...90,011,611
|
|
G
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Pld3
|
phospholipase D family, member 3
|
|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:91,949,465...91,971,834
Ensembl chr 1:91,949,467...91,961,207
|
|
G
|
Plekhg2
|
pleckstrin homology and RhoGEF domain containing G2
|
|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,779,449...92,792,610
Ensembl chr 1:92,779,449...92,792,610
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G
|
Pou2f2
|
POU class 2 homeobox 2
|
|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:89,810,153...89,897,560
Ensembl chr 1:89,812,093...89,897,564
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G
|
Prr19
|
proline rich 19
|
|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:90,012,307...90,017,988
Ensembl chr 1:90,014,027...90,017,997
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G
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Prx
|
periaxin
|
|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:91,912,669...91,934,754
Ensembl chr 1:91,911,999...91,937,235
|
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G
|
Psmc4
|
proteasome 26S subunit, ATPase 4
|
|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,476,690...92,485,268
Ensembl chr 1:92,476,690...92,485,060
|
|
G
|
Rab4b
|
RAB4B, member RAS oncogene family
|
|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:91,589,047...91,600,426
Ensembl chr 1:91,589,047...91,600,337
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|
G
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Rabac1
|
Rab acceptor 1
|
|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:89,691,884...89,695,017
Ensembl chr 1:89,691,884...89,695,017
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|
G
|
Rps16
|
ribosomal protein S16
|
|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,770,658...92,773,603
Ensembl chr19:56,922,246...56,923,020 Ensembl chr 1:56,922,246...56,923,020
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|
G
|
Rps19
|
ribosomal protein S19
|
|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:89,608,408...89,614,390
Ensembl chr 7:104,324,520...104,325,132 Ensembl chr 1:104,324,520...104,325,132
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|
G
|
Selenov
|
selenoprotein V
|
|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,679,034...92,686,320
Ensembl chr 1:92,679,034...92,686,320
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|
G
|
Sertad1
|
SERTA domain containing 1
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|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:91,903,297...91,906,565
Ensembl chr 1:91,891,814...91,907,001
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|
G
|
Sertad3
|
SERTA domain containing 3
|
|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:91,891,141...91,894,861
Ensembl chr 1:91,893,616...91,897,110
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G
|
Shkbp1
|
Sh3kbp1 binding protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:91,764,426...91,777,959
Ensembl chr 1:91,764,426...91,778,158
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|
G
|
Snrpa
|
small nuclear ribonucleoprotein polypeptide A
|
|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:91,609,419...91,618,119
Ensembl chr 1:91,609,420...91,618,042
|
|
G
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Sptbn4
|
spectrin, beta, non-erythrocytic 4
|
|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:91,778,379...91,865,970
Ensembl chr 1:91,778,380...91,865,049
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G
|
Supt5h
|
SPT5 homolog, DSIF elongation factor subunit
|
|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,714,276...92,745,489
Ensembl chr 1:92,714,281...92,744,445
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G
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Tgfb1
|
transforming growth factor, beta 1
|
|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899
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G
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Timm50
|
translocase of inner mitochondrial membrane 50
|
|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,702,437...92,710,311
Ensembl chr 1:92,702,437...92,710,311
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G
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Tmem145
|
transmembrane protein 145
|
|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:90,019,727...90,029,432
Ensembl chr 1:90,019,745...90,029,427
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G
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Tmem91
|
transmembrane protein 91
|
|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:90,307,264...90,314,796
Ensembl chr 1:90,306,289...90,313,320
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G
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Ttc9b
|
tetratricopeptide repeat domain 9B
|
|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,081,026...92,083,208
Ensembl chr 1:92,080,806...92,083,203
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G
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Zfp11
|
zinc finger protein 11
|
|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr12:32,664,312...32,676,940
Ensembl chr12:32,650,373...32,677,739
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G
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Zfp526
|
zinc finger protein 526
|
|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:89,935,604...89,945,669
Ensembl chr 1:89,933,478...89,956,958
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G
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Zfp574
|
zinc finger protein 574
|
|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:89,798,412...89,805,490
Ensembl chr 1:89,760,956...89,813,198
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G
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Znf780b
|
zinc finger protein 780B
|
|
ISO
|
ClinVar Annotator: match by term: Carpenter syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,136,761...92,159,076
|
|
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G
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Lrp4
|
LDL receptor related protein 4
|
|
ISO
|
ClinVar Annotator: match by term: Cenani syndactylism | ClinVar Annotator: match by term: Cenani-Lenz syndactyly syndrome | ClinVar Annotator: match by term: SYNDACTYLY, TYPE VII ClinVar Annotator: match by term: Cenani-Lenz syndactyly syndrome | ClinVar Annotator: match by term: Syndactyly type 7 CTD Direct Evidence: marker/mechanism
|
OMIM ClinVar CTD |
PMID:7891385 PMID:9182770 PMID:9536098 PMID:10756427 PMID:11260233 PMID:12868467 PMID:14577675 PMID:16199547 PMID:17576681 PMID:18978656 PMID:20381006 PMID:21471202 PMID:23636941 PMID:24234652 PMID:24924585 PMID:25119311 PMID:25741868 PMID:26751728 PMID:28492532 PMID:28559208 PMID:34857885 More...
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|
NCBI chr 3:97,885,373...97,939,366
Ensembl chr 3:97,885,400...97,939,370
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|
|
G
|
Hdac6
|
histone deacetylase 6
|
|
ISO
|
ClinVar Annotator: match by term: HDAC6-related condition | ClinVar Annotator: match by term: X-linked dominant chondrodysplasia, Chassaing-Lacombe type
|
OMIM ClinVar |
PMID:16001442 PMID:20181727 PMID:25741868 PMID:28492532 |
|
NCBI chr X:17,222,538...17,244,373
Ensembl chr X:17,222,856...17,244,370
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|
|
G
|
Nectin1
|
nectin cell adhesion molecule 1
|
|
ISO
|
ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome | ClinVar Annotator: match by term: NECTIN1-related condition CTD Direct Evidence: marker/mechanism
|
OMIM ClinVar CTD |
PMID:3035184 PMID:10932188 PMID:11559849 PMID:11756979 PMID:12893758 PMID:16195396 PMID:16674562 PMID:17089422 PMID:18223281 PMID:19132250 PMID:19715471 PMID:23560673 PMID:24560896 PMID:25741868 PMID:25913853 PMID:28492532 PMID:32554531 More...
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|
NCBI chr 8:52,998,662...53,061,745
Ensembl chr 8:52,998,662...53,086,664
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|
|
G
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P4hb
|
prolyl 4-hydroxylase subunit beta
|
|
ISO
|
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features | ClinVar Annotator: match by term: Cole-Carpenter syndrome
|
CTD ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr10:106,335,300...106,346,911
Ensembl chr10:106,335,300...106,346,911
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G
|
Sec24d
|
SEC24 homolog D, COPII coat complex component
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
|
|
NCBI chr 2:214,103,138...214,211,155
Ensembl chr 2:214,103,190...214,211,144
|
|
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G
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P4hb
|
prolyl 4-hydroxylase subunit beta
|
|
ISO
|
ClinVar Annotator: match by term: Cole-Carpenter syndrome 1 | ClinVar Annotator: match by term: P4HB-related condition
|
OMIM ClinVar |
PMID:25683117 PMID:25741868 PMID:28492532 PMID:29263160 PMID:30063094 |
|
NCBI chr10:106,335,300...106,346,911
Ensembl chr10:106,335,300...106,346,911
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|
|
G
|
Sec24d
|
SEC24 homolog D, COPII coat complex component
|
|
ISO
|
ClinVar Annotator: match by term: Cole-Carpenter syndrome 2 | ClinVar Annotator: match by term: SEC24D-related condition
|
OMIM ClinVar |
PMID:25683121 PMID:25741868 PMID:26467156 PMID:27942778 PMID:28492532 PMID:30462379 More...
|
|
NCBI chr 2:214,103,138...214,211,155
Ensembl chr 2:214,103,190...214,211,144
|
|
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G
|
Wdpcp
|
WD repeat containing planar cell polarity effector
|
|
ISO
|
ClinVar Annotator: match by term: Congenital heart defects, hamartomas of tongue, and polysyndactyly | ClinVar Annotator: match by term: Heart defect - tongue hamartoma - polysyndactyly syndrome | ClinVar Annotator: match by term: WDPCP-related condition CTD Direct Evidence: marker/mechanism
|
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20671153 PMID:25326635 PMID:25427950 PMID:25741868 PMID:27158779 PMID:28289185 PMID:28492532 PMID:29588463 PMID:32483926 PMID:33046855 More...
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|
NCBI chr14:99,847,463...100,178,392
Ensembl chr14:99,847,632...100,200,287
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|
|
G
|
Chrng
|
cholinergic receptor nicotinic gamma subunit
|
|
ISO
|
ClinVar Annotator: match by term: CHRNG-associated hypo-akinesia disorder of prenatal onset | ClinVar Annotator: match by term: CHRNG-related disorder | ClinVar Annotator: match by term: Multiple pterygium syndrome CTD Direct Evidence: marker/mechanism
|
OMIM ClinVar CTD |
PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 PMID:24254455 PMID:25608830 PMID:25741868 PMID:25957469 PMID:26578207 PMID:26752647 PMID:27245440 PMID:28492532 PMID:30868735 PMID:31230720 PMID:33060286 PMID:34440395 More...
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|
NCBI chr 9:95,325,984...95,332,092
Ensembl chr 9:95,325,984...95,332,092
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|
G
|
Myh3
|
myosin heavy chain 3
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ISO
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ClinVar Annotator: match by term: Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | ClinVar Annotator: match by term: Contractures, pterygia, and variable skeletal fusions syndrome 1A CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:9536098 PMID:16642020 PMID:17576681 PMID:18414213 PMID:18470895 PMID:25741868 PMID:25957469 PMID:27381093 PMID:28492532 PMID:28779239 PMID:29314551 PMID:29805041 PMID:30008475 PMID:32902138 PMID:33726816 PMID:34204301 PMID:34440395 PMID:35169139 More...
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NCBI chr10:52,269,185...52,293,000
Ensembl chr10:52,269,185...52,293,000
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G
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Chrna1
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cholinergic receptor nicotinic alpha 1 subunit
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ISO
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ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:78,862,286...78,877,353
Ensembl chr 3:78,862,286...78,877,353
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G
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Chrnd
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cholinergic receptor nicotinic delta subunit
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ISO
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ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:95,310,316...95,318,734
Ensembl chr 9:95,310,298...95,318,745
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G
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Chrng
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cholinergic receptor nicotinic gamma subunit
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ISO
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ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome
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ClinVar |
PMID:15704180 PMID:16199547 PMID:16826520 PMID:16826531 PMID:22167768 PMID:23261301 PMID:24038971 PMID:24254455 PMID:24319099 PMID:25326635 PMID:25411939 PMID:25608830 PMID:25741868 PMID:25957469 PMID:26578207 PMID:26752647 PMID:27245440 PMID:28492532 PMID:29054425 PMID:30287924 PMID:30868735 PMID:31230720 PMID:31354645 PMID:31680349 PMID:32901917 PMID:33060286 PMID:33820833 PMID:34008892 PMID:34440395 PMID:35904974 More...
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NCBI chr 9:95,325,984...95,332,092
Ensembl chr 9:95,325,984...95,332,092
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G
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Myh3
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myosin heavy chain 3
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ISO
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ClinVar Annotator: match by term: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B | ClinVar Annotator: match by term: Contractures, pterygia, and variable skeletal fusions syndrome 1B
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OMIM ClinVar |
PMID:9536098 PMID:16642020 PMID:17576681 PMID:18414213 PMID:25741868 PMID:25741870 PMID:28492532 PMID:28779239 PMID:29805041 PMID:32902138 PMID:33726816 PMID:34204301 PMID:34440395 PMID:35169139 More...
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NCBI chr10:52,269,185...52,293,000
Ensembl chr10:52,269,185...52,293,000
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G
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Tbx15
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T-box transcription factor 15
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Pelviscapular dysplasia
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CTD ClinVar OMIM |
PMID:19068278 PMID:25741868 PMID:28492532 |
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NCBI chr 2:189,265,373...189,376,466
Ensembl chr 2:189,265,373...189,376,466
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G
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Cilk1
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ciliogenesis associated kinase 1
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ISO
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ClinVar Annotator: match by term: Cranioectodermal dysplasia
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ClinVar |
PMID:25741868 |
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NCBI chr 8:87,868,294...87,922,995
Ensembl chr 8:87,868,156...87,922,995
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G
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Ift122
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intraflagellar transport 122
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cranioectodermal dysplasia
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CTD ClinVar |
PMID:23826986 PMID:24027799 PMID:25741868 PMID:28492532 |
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NCBI chr 4:150,577,525...150,648,052
Ensembl chr 4:150,539,786...150,648,052
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G
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Ift43
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intraflagellar transport 43
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cranioectodermal dysplasia
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CTD ClinVar |
PMID:25741868 |
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NCBI chr 6:111,460,689...111,537,224
Ensembl chr 6:111,456,476...111,537,224
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G
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Matn3
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matrilin 3
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ISO
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ClinVar Annotator: match by term: Cranioectodermal dysplasia | ClinVar Annotator: match by term: Sensenbrenner syndrome
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:37,467,729...37,487,776
Ensembl chr 6:37,467,729...37,487,776
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G
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Tgfb3
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transforming growth factor, beta 3
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ISO
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ClinVar Annotator: match by term: Cranioectodermal dysplasia
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ClinVar |
PMID:25741868 |
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NCBI chr 6:111,435,170...111,457,646
Ensembl chr 6:111,435,170...111,456,946
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G
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Wdr19
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WD repeat domain 19
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ISO
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ClinVar Annotator: match by term: Cranioectodermal dysplasia | ClinVar Annotator: match by term: Sensenbrenner syndrome CTD Direct Evidence: marker/mechanism
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ClinVar CTD |
PMID:22019273 PMID:23559409 PMID:23683095 PMID:25726036 PMID:25741868 PMID:26260382 PMID:26275793 PMID:27241786 PMID:27596865 PMID:28492532 PMID:28621010 PMID:29068549 PMID:32165824 More...
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NCBI chr14:43,396,130...43,460,012
Ensembl chr14:43,397,835...43,459,939
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G
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Wdr35
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WD repeat domain 35
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cranioectodermal dysplasia | ClinVar Annotator: match by term: Sensenbrenner syndrome
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CTD ClinVar |
PMID:22486404 PMID:24033266 PMID:25741868 PMID:25914204 PMID:28332779 PMID:28492532 PMID:29068549 More...
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NCBI chr 6:37,490,557...37,550,391
Ensembl chr 6:37,490,545...37,550,664
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G
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Ift122
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intraflagellar transport 122
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ISO
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ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 | ClinVar Annotator: match by term: LEVIN SYNDROME I
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OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17022080 PMID:17576681 PMID:19648123 PMID:19760620 PMID:20493458 PMID:23826986 PMID:24027799 PMID:25640679 PMID:25741868 PMID:26792575 PMID:28370949 PMID:28492532 PMID:29037998 PMID:33532864 PMID:33717254 More...
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NCBI chr 4:150,577,525...150,648,052
Ensembl chr 4:150,539,786...150,648,052
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G
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Mbd4
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methyl-CpG binding domain 4 DNA glycosylase
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ISO
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ClinVar Annotator: match by term: Cranioectodermal dysplasia 1
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ClinVar |
PMID:28492532 |
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NCBI chr 4:150,565,646...150,577,433
Ensembl chr 4:150,565,655...150,577,578
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G
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Rho
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rhodopsin
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ISO
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ClinVar Annotator: match by term: Cranioectodermal dysplasia 1
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ClinVar |
PMID:28492532 |
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NCBI chr 4:150,653,205...150,658,367
Ensembl chr 4:150,653,205...150,658,367
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G
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Matn3
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matrilin 3
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ISO
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ClinVar Annotator: match by term: Cranioectodermal dysplasia 2
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:37,467,729...37,487,776
Ensembl chr 6:37,467,729...37,487,776
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G
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Spag17
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sperm associated antigen 17
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ISO
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ClinVar Annotator: match by term: Cranioectodermal dysplasia 2
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ClinVar |
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NCBI chr 2:189,952,649...190,199,623
Ensembl chr 2:189,952,729...190,189,755
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G
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Wdr35
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WD repeat domain 35
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ISO
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ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 | ClinVar Annotator: match by term: WDR35-related disorder DNA:missense mutation:cds:p.L520P (human)
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OMIM ClinVar RGD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20817137 PMID:21473986 PMID:22486404 PMID:22987818 PMID:24027799 PMID:24033266 PMID:24123776 PMID:25326635 PMID:25741868 PMID:25908617 PMID:25914204 PMID:26691894 PMID:27158779 PMID:28332779 PMID:28400947 PMID:28492532 PMID:28870638 PMID:29068549 PMID:31785789 PMID:32804427 PMID:33369054 PMID:33606107 PMID:34421506 PMID:37596520 PMID:22987818 More...
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RGD:11553909 |
NCBI chr 6:37,490,557...37,550,391
Ensembl chr 6:37,490,545...37,550,664
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G
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Ift43
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intraflagellar transport 43
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ISO
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ClinVar Annotator: match by term: Cranioectodermal dysplasia 3
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OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21378380 PMID:24027799 PMID:25741868 PMID:26489029 PMID:28400947 PMID:28492532 PMID:29896747 More...
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NCBI chr 6:111,460,689...111,537,224
Ensembl chr 6:111,456,476...111,537,224
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G
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Wdr19
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WD repeat domain 19
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ISO
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ClinVar Annotator: match by term: Cranioectodermal dysplasia 4 DNA:missense mutation:cds:p.L750P (mouse)
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OMIM ClinVar RGD |
PMID:9536098 PMID:17576681 PMID:22019273 PMID:23559409 PMID:23683095 PMID:24027799 PMID:24027800 PMID:25726036 PMID:25741868 PMID:26260382 PMID:26275793 PMID:27241786 PMID:27596865 PMID:28492532 PMID:28621010 PMID:28973083 PMID:29068549 PMID:31216405 PMID:31725169 PMID:31964843 PMID:32165824 PMID:32483926 PMID:33517396 PMID:34295353 PMID:36227438 PMID:36909829 PMID:22228095 More...
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RGD:11552606 |
NCBI chr14:43,396,130...43,460,012
Ensembl chr14:43,397,835...43,459,939
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G
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Ift140
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intraflagellar transport 140
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ISO
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ClinVar Annotator: match by term: CRANIOECTODERMAL DYSPLASIA 5
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ClinVar OMIM |
PMID:16199547 PMID:22503633 PMID:23418020 PMID:24009529 PMID:25741868 PMID:26216056 PMID:26766544 PMID:28492532 PMID:29688594 PMID:30479745 PMID:31213501 PMID:31964843 PMID:32007091 PMID:32531858 PMID:33452237 PMID:34596737 PMID:34758253 PMID:34890546 PMID:35873489 PMID:36573973 PMID:37628605 PMID:39136524 More...
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NCBI chr10:14,537,134...14,624,926
Ensembl chr10:14,537,466...14,624,926
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G
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Foxi3
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forkhead box I3
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ISO
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ClinVar Annotator: match by term: Craniofacial microsomia 2 | ClinVar Annotator: match by term: FOXI3-related condition
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OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:36260083 PMID:37041148 |
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NCBI chr 4:104,491,834...104,496,008
Ensembl chr 4:104,491,759...104,496,008
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G
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Acadsb
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acyl-CoA dehydrogenase, short/branched chain
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ISO
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ClinVar Annotator: match by term: FGFR2-related craniosynostosis
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ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
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NCBI chr 1:195,619,088...195,660,564
Ensembl chr 1:195,619,038...195,660,561
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G
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Aloxe3
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arachidonate epidermal lipoxygenase 3
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ISO
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ClinVar Annotator: match by term: Brachycephaly
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ClinVar |
PMID:25741868 |
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NCBI chr10:54,329,224...54,353,167
Ensembl chr10:54,329,043...54,353,166
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G
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Alx4
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ALX homeobox 4
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
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NCBI chr 3:100,067,052...100,103,624
Ensembl chr 3:100,067,052...100,103,624
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G
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Ate1
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arginyltransferase 1
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ISO
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ClinVar Annotator: match by term: FGFR2-related craniosynostosis
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ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
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NCBI chr 1:194,391,843...194,514,284
Ensembl chr 1:194,391,843...194,511,348
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G
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Atp1a3
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ATPase Na+/K+ transporting subunit alpha 3
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ISO
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ClinVar Annotator: match by term: Syndromic craniosynostosis
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ClinVar |
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NCBI chr 1:89,700,645...89,729,782
Ensembl chr 1:89,700,649...89,729,825
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G
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Axin2
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axin 2
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ISS
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OMIM:123100 | OMIM:182212 | OMIM:600593 | OMIM:600775 | OMIM:604757 | OMIM:615314 | OMIM:615529
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MouseDO |
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NCBI chr10:94,393,379...94,426,579
Ensembl chr10:94,395,909...94,426,575
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G
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Bbs9
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Bardet-Biedl syndrome 9
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susceptibility
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ISO
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DNA:SNPs:introns:rs10262453,rs17724206,rs1884302(human) CTD Direct Evidence: marker/mechanism
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CTD RGD |
PMID:23160099 PMID:23160099 |
RGD:9684995 |
NCBI chr 8:29,288,846...29,713,889
Ensembl chr 8:29,289,997...29,713,880
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G
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Bmp2
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bone morphogenetic protein 2
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:23160099 |
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NCBI chr 3:141,264,648...141,275,416
Ensembl chr 3:141,264,646...141,274,760
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G
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Btbd16
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BTB domain containing 16
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ISO
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ClinVar Annotator: match by term: FGFR2-related craniosynostosis
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ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
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NCBI chr 1:194,765,241...194,819,786
Ensembl chr 1:194,765,903...194,819,785
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G
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C1h10orf120
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similar to human chromosome 10 open reading frame 120
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ISO
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ClinVar Annotator: match by term: FGFR2-related craniosynostosis
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ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
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NCBI chr 1:185,910,420...185,913,478
Ensembl chr 1:195,340,624...195,343,676
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G
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C1h10orf88
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similar to human chromosome 10 open reading frame 88
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ISO
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ClinVar Annotator: match by term: FGFR2-related craniosynostosis
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ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
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NCBI chr 1:195,555,517...195,580,177
Ensembl chr 1:195,562,392...195,579,576
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G
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Cic
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capicua transcriptional repressor
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ISO
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ClinVar Annotator: match by term: Syndromic craniosynostosis
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ClinVar |
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NCBI chr 1:89,980,660...90,008,357
Ensembl chr 1:89,981,743...90,008,354
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G
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Clasp1
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cytoplasmic linker associated protein 1
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ISO
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ClinVar Annotator: match by term: Craniosynostosis
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ClinVar |
PMID:25741868 PMID:26522830 PMID:28492532 PMID:28669401 PMID:32628740 |
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NCBI chr13:32,046,362...32,267,954
Ensembl chr13:32,046,444...32,267,924
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G
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Cuzd1
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CUB and zona pellucida-like domains 1
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ISO
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ClinVar Annotator: match by term: FGFR2-related craniosynostosis
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ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
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NCBI chr 1:195,519,609...195,532,733
Ensembl chr 1:195,519,609...195,532,733
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G
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Dedd2
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death effector domain containing 2
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ISO
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ClinVar Annotator: match by term: Syndromic craniosynostosis
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ClinVar |
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NCBI chr 1:89,916,906...89,934,663
Ensembl chr 1:89,919,524...89,936,804
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G
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Dmbt1
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deleted in malignant brain tumors 1
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ISO
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ClinVar Annotator: match by term: FGFR2-related craniosynostosis
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ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
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NCBI chr 1:195,047,702...195,126,704
Ensembl chr 1:195,047,713...195,126,704
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G
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Efnb1
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ephrin B1
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:15166289 |
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NCBI chr X:68,297,529...68,310,335
Ensembl chr X:68,297,492...68,349,546
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G
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Erf
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Ets2 repressor factor
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Lambdoidal craniosynostosis | ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Lambdoid synostosis | ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis
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CTD ClinVar |
PMID:9536098 PMID:17576681 PMID:23354439 PMID:25741868 PMID:25741905 PMID:26097063 PMID:27738187 PMID:28492532 PMID:28808027 PMID:29215649 PMID:29758562 PMID:30758909 PMID:31754721 PMID:31785789 PMID:32370745 PMID:35852485 More...
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NCBI chr 1:89,957,760...89,966,213
Ensembl chr 1:89,957,760...89,966,213
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G
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Ezh2
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enhancer of zeste 2 polycomb repressive complex 2 subunit
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ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:26424790 |
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NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:77,624,223...77,687,183
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G
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Fam24a
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family with sequence similarity 24, member A
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ISO
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ClinVar Annotator: match by term: FGFR2-related craniosynostosis
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ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
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NCBI chr 1:186,119,918...186,122,932
Ensembl chr 1:195,546,211...195,554,086
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G
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Fam24b
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family with sequence similarity 24 member B
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ISO
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ClinVar Annotator: match by term: FGFR2-related craniosynostosis
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ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
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NCBI chr 1:186,112,544...186,115,957
Ensembl chr 1:195,542,729...195,546,140
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G
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Fbn1
|
fibrillin 1
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ISO
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ClinVar Annotator: match by term: Craniosynostosis
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ClinVar |
PMID:25741868 PMID:31837199 |
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NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283
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G
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Fbn2
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fibrillin 2
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ISO
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ClinVar Annotator: match by term: Craniosynostosis
|
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr18:53,696,197...53,901,992
Ensembl chr18:53,697,708...53,902,191
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G
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Fgfr1
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Fibroblast growth factor receptor 1
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ISO
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DNA:missense mutation:exon:p.P250R (mouse) ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis, nonspecific CTD Direct Evidence: marker/mechanism
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ClinVar CTD RGD |
PMID:15605412 PMID:16764984 PMID:17154279 PMID:18160472 PMID:18985070 PMID:20696889 PMID:23329143 PMID:23657145 PMID:25064402 PMID:25383892 PMID:25425165 PMID:25741868 PMID:25759380 PMID:26467025 PMID:26931467 PMID:28492532 PMID:10942429 More...
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RGD:11567263 |
NCBI chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855
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G
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Fgfr2
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fibroblast growth factor receptor 2
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ISO
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DNA:substitutions:multiple (human) ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: FGFR2-related craniosynostosis | ClinVar Annotator: match by term: Syndromic craniosynostosis ClinVar Annotator: match by term: Brachycephaly | ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar Annotator: match by term: Brachycephaly | ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2 related craniosynostosis ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: FGFR2 related craniosynostosis human cells in a rat model CTD Direct Evidence: marker/mechanism DNA:missense mutations:cds:p.Y105C, p.G384R (human)
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ClinVar CTD RGD |
PMID:1519658 PMID:1641873 PMID:1697263 PMID:2172978 PMID:4078868 PMID:7558045 PMID:7573032 PMID:7581378 PMID:7607643 PMID:7655462 PMID:7668257 PMID:7719329 PMID:7719333 PMID:7719344 PMID:7719345 PMID:7773284 PMID:7795583 PMID:7874170 PMID:7987400 PMID:7989400 PMID:8434615 PMID:8522336 PMID:8528214 PMID:8644708 PMID:8650126 PMID:8651276 PMID:8696350 PMID:8755573 PMID:8946174 PMID:8957519 PMID:8958319 PMID:9002682 PMID:9048930 PMID:9150725 PMID:9152842 PMID:9169049 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:15523492 PMID:15523615 PMID:15793702 PMID:15863034 PMID:15883293 PMID:15975938 PMID:15996217 PMID:16061565 PMID:16158432 PMID:16199547 PMID:16418739 PMID:16440883 PMID:16465081 PMID:16470531 PMID:16501574 PMID:16531735 PMID:16740155 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17264867 PMID:17525745 PMID:17576681 PMID:17621648 PMID:17693524 PMID:17803937 PMID:17873121 PMID:18247426 PMID:18391498 PMID:18414213 PMID:18541976 PMID:18552176 PMID:18618990 PMID:18726952 PMID:19066959 PMID:19610084 PMID:20133659 PMID:20301628 PMID:20489451 PMID:20503384 PMID:20643727 PMID:20856019 PMID:21189955 PMID:21367659 PMID:21397175 PMID:21524234 PMID:21928350 PMID:22117175 PMID:22238366 PMID:22387015 PMID:22558232 PMID:22664175 PMID:22665975 PMID:23002168 PMID:23348274 PMID:23430493 PMID:23431754 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23754559 PMID:23786770 PMID:23787031 PMID:23908597 PMID:23995961 PMID:24016645 PMID:24036790 PMID:24127277 PMID:24486773 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25129254 PMID:25157968 PMID:25174698 PMID:25209230 PMID:25245177 PMID:25271085 PMID:25343114 PMID:25361936 PMID:25425289 PMID:25640679 PMID:25706251 PMID:25741868 PMID:25759925 PMID:25759927 PMID:25867380 PMID:25937001 PMID:26289989 PMID:26325558 PMID:26362256 PMID:26380986 PMID:26429889 PMID:26467025 PMID:26557159 PMID:26619011 PMID:27028366 PMID:27079505 PMID:27228464 PMID:27323706 PMID:27430617 PMID:27481450 PMID:27527345 PMID:27683237 PMID:27803855 PMID:28166811 PMID:28492532 PMID:28611549 PMID:28901406 PMID:28990276 PMID:29037998 PMID:29095814 PMID:29109840 PMID:29848297 PMID:30919572 PMID:31145570 PMID:31502745 PMID:31754721 PMID:32595695 PMID:32879300 PMID:33937142 PMID:35802133 PMID:36474027 PMID:36633841 PMID:37086723 PMID:39825153 PMID:270283566 PMID:19624690 PMID:14499350 PMID:19627528 PMID:8946174 More...
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RGD:6480630, RGD:12801469, RGD:8547554, RGD:12801484 |
NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914
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G
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Fgfr3
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fibroblast growth factor receptor 3
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ISO
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DNA:missense mutation:cds:p.P250R(human) ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis, nonspecific
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ClinVar RGD |
PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 PMID:9279764 PMID:9300656 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9843059 PMID:9950359 PMID:10094188 PMID:10861678 PMID:11424131 PMID:11746040 PMID:12362036 PMID:14613973 PMID:15241680 PMID:15915095 PMID:16501574 PMID:17552943 PMID:18000976 PMID:19215249 PMID:20301588 PMID:20301628 PMID:22016144 PMID:22622662 PMID:24728327 PMID:24864036 PMID:25271085 PMID:25614871 PMID:25741868 PMID:26740388 PMID:28492532 PMID:30311386 PMID:32238909 PMID:11467490 More...
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RGD:11568028 |
NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209
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G
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Flna
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filamin A
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ISO
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DNA:missense mutations:cds:multiple (human)
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RGD |
PMID:25873011 |
RGD:11531800 |
NCBI chr X:157,159,051...157,185,559
Ensembl chr X:157,159,051...157,182,343
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G
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Frem1
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Fras1 related extracellular matrix 1
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
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NCBI chr 5:102,367,201...102,515,464
Ensembl chr 5:102,367,201...102,515,404
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G
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Grik5
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glutamate ionotropic receptor kainate type subunit 5
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ISO
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ClinVar Annotator: match by term: Syndromic craniosynostosis
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ClinVar |
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NCBI chr 1:89,733,736...89,795,769
Ensembl chr 1:89,733,741...89,794,962
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G
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Gsk3a
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glycogen synthase kinase 3 alpha
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ISO
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ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis
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ClinVar |
PMID:28492532 |
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NCBI chr 1:89,943,669...89,953,514
Ensembl chr 1:89,943,669...89,953,593
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G
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Hes7
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hes family bHLH transcription factor 7
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ISO
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ClinVar Annotator: match by term: Brachycephaly
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ClinVar |
PMID:25741868 |
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NCBI chr10:54,322,971...54,327,776
Ensembl chr10:54,322,971...54,327,776
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G
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Htra1
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HtrA serine peptidase 1
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ISO
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ClinVar Annotator: match by term: FGFR2-related craniosynostosis
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ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
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NCBI chr 1:194,928,069...194,977,619
Ensembl chr 1:194,927,687...194,977,620
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G
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Ift122
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intraflagellar transport 122
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:20493458 |
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NCBI chr 4:150,577,525...150,648,052
Ensembl chr 4:150,539,786...150,648,052
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G
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Ikzf5
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IKAROS family zinc finger 5
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ISO
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ClinVar Annotator: match by term: FGFR2-related craniosynostosis
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ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
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NCBI chr 1:195,599,287...195,619,024
Ensembl chr 1:195,600,967...195,619,013
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G
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Megf8
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multiple EGF-like-domains 8
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ISO
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ClinVar Annotator: match by term: Craniosynostosis
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ClinVar |
PMID:23063620 PMID:25741868 PMID:28914635 PMID:29168297 |
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NCBI chr 1:90,030,057...90,079,423
Ensembl chr 1:90,030,388...90,079,422
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G
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Msx2
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msh homeobox 2
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ISO ISS
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craniosynostosis type 2, OMIM:604757, DNA:point mutation:exon:P148H OMIM:123100 | OMIM:182212 | OMIM:600593 | OMIM:600775 | OMIM:604757 | OMIM:615314
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MouseDO RGD |
PMID:8968743 |
RGD:1600491 |
NCBI chr17:11,102,284...11,107,949
Ensembl chr17:11,102,247...11,107,945
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G
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Myh7
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myosin heavy chain 7
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ISO
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ClinVar Annotator: match by term: Lambdoidal craniosynostosis
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ClinVar |
PMID:25741868 PMID:28492532 PMID:29892087 PMID:31737537 |
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NCBI chr15:32,416,525...32,439,851
Ensembl chr15:32,416,527...32,438,194
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G
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Nell1
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neural EGFL like 1
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IMP ISO
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CTD Direct Evidence: marker/mechanism
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CTD RGD |
PMID:14672347 PMID:12235118 |
RGD:633405 |
NCBI chr 1:108,845,462...109,709,858
Ensembl chr 1:108,845,462...109,709,858
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G
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Nog
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noggin
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treatment
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ISO
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RGD |
PMID:19627528 |
RGD:8547554 |
NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,625,875...74,628,103
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G
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Nsmce4a
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NSE4 homolog A, SMC5-SMC6 complex component
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ISO
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ClinVar Annotator: match by term: FGFR2-related craniosynostosis
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ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
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NCBI chr 1:194,532,364...194,539,456
Ensembl chr 1:194,525,648...194,539,456
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G
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Pafah1b3
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platelet-activating factor acetylhydrolase 1b, catalytic subunit 3
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ISO
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ClinVar Annotator: match by term: Syndromic craniosynostosis
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ClinVar |
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NCBI chr 1:90,009,085...90,011,611
Ensembl chr 1:90,009,085...90,011,611
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G
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Plekha1
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pleckstrin homology domain containing A1
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ISO
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ClinVar Annotator: match by term: FGFR2-related craniosynostosis
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ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
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NCBI chr 1:194,858,239...194,909,418
Ensembl chr 1:194,851,547...194,909,413
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G
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Pou2f2
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POU class 2 homeobox 2
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ISO
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ClinVar Annotator: match by term: Syndromic craniosynostosis
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ClinVar |
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NCBI chr 1:89,810,153...89,897,560
Ensembl chr 1:89,812,093...89,897,564
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G
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Pstk
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phosphoseryl-tRNA kinase
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ISO
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ClinVar Annotator: match by term: FGFR2-related craniosynostosis
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ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
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NCBI chr 1:186,157,730...186,168,145
Ensembl chr 1:195,587,890...195,604,035
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G
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Ptpn11
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protein tyrosine phosphatase, non-receptor type 11
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ISO
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ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar Annotator: match by term: Brachycephaly
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ClinVar |
PMID:11992261 PMID:14644997 PMID:15723289 PMID:15987685 PMID:16358218 PMID:17020470 PMID:17339163 PMID:17361219 PMID:18372317 PMID:19020799 PMID:19737548 PMID:20308328 PMID:21533187 PMID:22315187 PMID:22488759 PMID:23584145 PMID:24033266 PMID:24628801 PMID:24935154 PMID:25585602 PMID:25595571 PMID:25741868 PMID:26467025 PMID:26918529 PMID:28363362 PMID:28492532 PMID:29907801 PMID:30311386 PMID:30410095 PMID:30417923 PMID:31219622 PMID:31560489 PMID:32164556 PMID:32581362 More...
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NCBI chr12:41,026,079...41,085,577
Ensembl chr12:41,043,785...41,085,577
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G
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Rabac1
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Rab acceptor 1
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ISO
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ClinVar Annotator: match by term: Syndromic craniosynostosis
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ClinVar |
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NCBI chr 1:89,691,884...89,695,017
Ensembl chr 1:89,691,884...89,695,017
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G
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Smad6
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SMAD family member 6
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
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NCBI chr 8:73,345,457...73,414,985
Ensembl chr 8:73,345,460...73,414,149
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G
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Tacc2
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transforming, acidic coiled-coil containing protein 2
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ISO
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ClinVar Annotator: match by term: FGFR2-related craniosynostosis
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ClinVar |
PMID:17873121 PMID:28492532 PMID:31754721 |
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NCBI chr 1:194,546,428...194,758,152
Ensembl chr 1:194,569,650...194,758,152
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G
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Tcf12
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transcription factor 12
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:23354436 |
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NCBI chr 8:81,371,201...81,682,337
Ensembl chr 8:81,373,321...81,679,922
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G
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Tgfbr1
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transforming growth factor, beta receptor 1
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ISO
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ClinVar Annotator: match by term: Craniosynostosis
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ClinVar |
PMID:25741868 PMID:31837199 |
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NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:66,449,293...66,527,260
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G
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Twist1
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twist family bHLH transcription factor 1
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar Annotator: match by term: Brachycephaly | ClinVar Annotator: match by term: Craniosynostosis 1 ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Lambdoid synostosis ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2-related craniosynostosis ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2 related craniosynostosis
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CTD ClinVar |
PMID:1240778 PMID:8968762 PMID:8988166 PMID:8988167 PMID:9259286 PMID:9585583 PMID:9792856 PMID:10094188 PMID:10649491 PMID:10749989 PMID:11248247 PMID:11474656 PMID:11748846 PMID:11754069 PMID:11977182 PMID:11992718 PMID:12116251 PMID:12221714 PMID:12791045 PMID:14513358 PMID:15923834 PMID:16251895 PMID:16838304 PMID:17343269 PMID:17693524 PMID:18391498 PMID:19373776 PMID:19483581 PMID:19755431 PMID:19952666 PMID:20184424 PMID:20643727 PMID:21520333 PMID:21876555 PMID:22382802 PMID:22544111 PMID:22982246 PMID:24127277 PMID:25271085 PMID:25741868 PMID:25741909 PMID:26114524 PMID:27884935 PMID:28369379 PMID:28492532 PMID:29037998 PMID:29304373 PMID:30074960 PMID:30450715 PMID:30651579 PMID:31754721 PMID:31837199 PMID:32909287 PMID:33369125 PMID:33547006 PMID:33937142 PMID:39033378 More...
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NCBI chr 6:56,402,309...56,404,303
Ensembl chr 6:56,398,061...56,404,965
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G
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Wdr11
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WD repeat domain 11
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ISO
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ClinVar Annotator: match by term: FGFR2-related craniosynostosis
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ClinVar |
PMID:28492532 |
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NCBI chr 1:193,595,606...193,641,149
Ensembl chr 1:193,595,535...193,641,142
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G
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Wdr35
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WD repeat domain 35
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:20817137 |
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NCBI chr 6:37,490,557...37,550,391
Ensembl chr 6:37,490,545...37,550,664
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G
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Zfp526
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zinc finger protein 526
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ISO
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ClinVar Annotator: match by term: Syndromic craniosynostosis
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ClinVar |
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NCBI chr 1:89,935,604...89,945,669
Ensembl chr 1:89,933,478...89,956,958
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G
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Zfp574
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zinc finger protein 574
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ISO
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ClinVar Annotator: match by term: Syndromic craniosynostosis
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ClinVar |
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NCBI chr 1:89,798,412...89,805,490
Ensembl chr 1:89,760,956...89,813,198
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G
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Zic1
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Zic family member 1
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
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NCBI chr 8:100,785,282...100,797,716
Ensembl chr 8:100,787,789...100,792,427
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G
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Actmap
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actin maturation protease
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ISO
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ClinVar Annotator: match by term: TWIST1-related craniosynostosis
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ClinVar |
PMID:28492532 |
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NCBI chr 1:91,618,012...91,627,490
Ensembl chr 1:91,617,859...91,627,489
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G
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Akt2
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AKT serine/threonine kinase 2
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ISO
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ClinVar Annotator: match by term: TWIST1-related craniosynostosis
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ClinVar |
PMID:28492532 |
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NCBI chr 1:92,004,705...92,061,420
Ensembl chr 1:92,014,859...92,061,420
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G
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Arhgef1
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Rho guanine nucleotide exchange factor 1
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ISO
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ClinVar Annotator: match by term: TWIST1-related craniosynostosis
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ClinVar |
PMID:28492532 |
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NCBI chr 1:89,626,884...89,648,823
Ensembl chr 1:89,628,266...89,649,067
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G
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Atp1a3
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ATPase Na+/K+ transporting subunit alpha 3
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ISO
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ClinVar Annotator: match by term: TWIST1-related craniosynostosis
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ClinVar |
PMID:28492532 |
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NCBI chr 1:89,700,645...89,729,782
Ensembl chr 1:89,700,649...89,729,825
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G
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Axl
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Axl receptor tyrosine kinase
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ISO
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ClinVar Annotator: match by term: TWIST1-related craniosynostosis
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ClinVar |
PMID:28492532 |
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NCBI chr 1:90,392,864...90,424,123
Ensembl chr 1:90,392,864...90,424,009
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G
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B3gnt8
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UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8
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ISO
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ClinVar Annotator: match by term: TWIST1-related craniosynostosis
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ClinVar |
PMID:28492532 |
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NCBI chr 1:90,263,387...90,266,292
Ensembl chr 1:90,263,827...90,270,287
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G
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B9d2
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B9 domain containing 2
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ISO
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ClinVar Annotator: match by term: TWIST1-related craniosynostosis
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ClinVar |
PMID:28492532 |
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NCBI chr 1:90,315,472...90,323,143
Ensembl chr 1:90,317,200...90,323,175
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G
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Bckdha
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branched chain keto acid dehydrogenase E1 subunit alpha
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ISO
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ClinVar Annotator: match by term: TWIST1-related craniosynostosis
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ClinVar |
PMID:28492532 |
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NCBI chr 1:90,266,731...90,295,521
Ensembl chr 1:90,261,629...90,295,749
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G
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Blvrb
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biliverdin reductase B
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ISO
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ClinVar Annotator: match by term: TWIST1-related craniosynostosis
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ClinVar |
PMID:28492532 |
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NCBI chr 1:91,866,258...91,883,921
Ensembl chr 1:91,866,258...91,884,225
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G
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C1h19orf47
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similar to human chromosome 19 open reading frame 47
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ISO
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ClinVar Annotator: match by term: TWIST1-related craniosynostosis
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ClinVar |
PMID:28492532 |
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NCBI chr 1:91,971,879...92,010,938
Ensembl chr 1:91,971,931...91,999,771
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G
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Ccdc97
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coiled-coil domain containing 97
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ISO
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ClinVar Annotator: match by term: TWIST1-related craniosynostosis
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ClinVar |
PMID:28492532 |
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NCBI chr 1:90,347,003...90,354,809
Ensembl chr 1:90,347,008...90,354,764
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G
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Cd79a
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CD79a molecule
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ISO
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ClinVar Annotator: match by term: TWIST1-related craniosynostosis
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ClinVar |
PMID:28492532 |
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NCBI chr 1:89,621,460...89,625,813
Ensembl chr 1:89,621,460...89,625,812
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G
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Ceacam15
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CEA cell adhesion molecule 15
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ISO
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ClinVar Annotator: match by term: TWIST1-related craniosynostosis
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ClinVar |
PMID:28492532 |
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NCBI chr 1:86,496,487...86,501,454
Ensembl chr 1:86,496,897...86,500,774
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G
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Ceacam4
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CEA cell adhesion molecule 4
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ISO
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ClinVar Annotator: match by term: TWIST1-related craniosynostosis
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ClinVar |
PMID:28492532 |
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NCBI chr 1:89,504,555...89,510,831
Ensembl chr 1:89,504,555...89,510,831
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G
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Ceacam6
|
CEA cell adhesion molecule 6
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ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
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ClinVar |
PMID:28492532 |
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NCBI chr 1:89,544,415...89,562,552
Ensembl chr 1:89,544,400...89,562,552
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G
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Cic
|
capicua transcriptional repressor
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ISO
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ClinVar Annotator: match by term: TWIST1-related craniosynostosis
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ClinVar |
PMID:28492532 |
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NCBI chr 1:89,980,660...90,008,357
Ensembl chr 1:89,981,743...90,008,354
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G
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Cnfn
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cornifelin
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ISO
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ClinVar Annotator: match by term: TWIST1-related craniosynostosis
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ClinVar |
PMID:28492532 |
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NCBI chr 1:90,079,409...90,081,556
Ensembl chr 1:90,078,552...90,081,556
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G
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Coq8b
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coenzyme Q8B
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ISO
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ClinVar Annotator: match by term: TWIST1-related craniosynostosis
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ClinVar |
PMID:28492532 |
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NCBI chr 1:91,653,241...91,676,822
Ensembl chr 1:91,654,225...91,676,819
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G
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Cyp2a1
|
cytochrome P450, family 2, subfamily a, polypeptide 1
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ISO
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ClinVar Annotator: match by term: TWIST1-related craniosynostosis
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ClinVar |
PMID:28492532 |
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NCBI chr 1:91,359,278...91,372,554
Ensembl chr 1:91,359,272...91,389,730
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G
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Cyp2a3
|
cytochrome P450, family 2, subfamily a, polypeptide 3
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ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
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ClinVar |
PMID:28492532 |
|
NCBI chr 1:91,299,584...91,307,650
Ensembl chr 1:91,299,561...91,307,649
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G
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Cyp2b3
|
cytochrome P450, family 2, subfamily b, polypeptide 3
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ISO
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ClinVar Annotator: match by term: TWIST1-related craniosynostosis
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ClinVar |
PMID:28492532 |
|
NCBI chr 1:90,780,468...90,859,852
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G
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Cyp2f4
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cytochrome P450, family 2, subfamily f, polypeptide 4
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ISO
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ClinVar Annotator: match by term: TWIST1-related craniosynostosis
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ClinVar |
PMID:28492532 |
|
NCBI chr 1:91,543,768...91,557,553
Ensembl chr 1:91,543,768...91,557,553
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G
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Cyp2s1
|
cytochrome P450, family 2, subfamily s, polypeptide 1
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ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
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ClinVar |
PMID:28492532 |
|
NCBI chr 1:90,437,741...90,453,073
Ensembl chr 1:90,438,224...90,453,073
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G
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Dedd2
|
death effector domain containing 2
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ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
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ClinVar |
PMID:28492532 |
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NCBI chr 1:89,916,906...89,934,663
Ensembl chr 1:89,919,524...89,936,804
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G
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Dll3
|
delta like canonical Notch ligand 3
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ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
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ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,689,577...92,698,125
Ensembl chr 1:92,689,577...92,697,406
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G
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Dmac2
|
distal membrane arm assembly component 2
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ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
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ClinVar |
PMID:28492532 |
|
NCBI chr 1:90,250,262...90,262,592
Ensembl chr 1:90,243,532...90,262,594
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G
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Dmrtc2
|
DMRT-like family C2
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ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:89,594,120...89,601,761
Ensembl chr 1:89,594,215...89,601,762
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G
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Dyrk1b
|
dual specificity tyrosine phosphorylation regulated kinase 1B
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|
ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,606,743...92,624,089
Ensembl chr 1:92,607,303...92,614,744
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G
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Egln2
|
egl-9 family hypoxia-inducible factor 2
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|
ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:91,579,205...91,586,985
Ensembl chr 1:91,579,206...91,587,385
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G
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Eid2
|
EP300 interacting inhibitor of differentiation 2
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|
ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,665,837...92,667,162
Ensembl chr 1:92,665,481...92,675,307
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G
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Eid2b
|
EP300 interacting inhibitor of differentiation 2B
|
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ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,673,119...92,674,899
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G
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Erf
|
Ets2 repressor factor
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|
ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:2370745 PMID:9536098 PMID:17576681 PMID:23354439 PMID:25741868 PMID:26097063 PMID:27738187 PMID:28492532 PMID:28808027 PMID:29215649 PMID:29758562 PMID:30758909 PMID:31754721 PMID:31785789 PMID:32370745 PMID:35852485 PMID:39668184 More...
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NCBI chr 1:89,957,760...89,966,213
Ensembl chr 1:89,957,760...89,966,213
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G
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Erich4
|
glutamate-rich 4
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ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:90,251,345...90,253,085
Ensembl chr 1:90,251,345...90,253,085
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G
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Exosc5
|
exosome component 5
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ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:90,295,495...90,305,047
Ensembl chr 1:90,293,797...90,305,046
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G
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Fbl
|
fibrillarin
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ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,597,407...92,606,507
Ensembl chr 1:92,597,258...92,606,506
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G
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Fcgbp
|
Fc gamma binding protein
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|
ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,502,461...92,540,658
Ensembl chr 1:92,499,498...92,540,658
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G
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Grik5
|
glutamate ionotropic receptor kainate type subunit 5
|
|
ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:89,733,736...89,795,769
Ensembl chr 1:89,733,741...89,794,962
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G
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Gsk3a
|
glycogen synthase kinase 3 alpha
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|
ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:89,943,669...89,953,514
Ensembl chr 1:89,943,669...89,953,593
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G
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Hipk4
|
homeodomain interacting protein kinase 4
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|
ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:91,938,308...91,948,680
Ensembl chr 1:91,938,278...91,948,683
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G
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Hnrnpul1
|
heterogeneous nuclear ribonucleoprotein U-like 1
|
|
ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:90,356,182...90,391,923
Ensembl chr 1:90,356,182...90,390,370
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G
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Itpkc
|
inositol-trisphosphate 3-kinase C
|
|
ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:91,628,606...91,650,182
Ensembl chr 1:91,628,608...91,653,350
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G
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Kat6b
|
lysine acetyltransferase 6B
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|
ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
|
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NCBI chr15:2,688,535...2,861,443
Ensembl chr15:2,688,811...2,844,343
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G
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Lgals5
|
galectin 5
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ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr10:64,351,976...64,355,137
Ensembl chr10:64,351,964...64,355,180
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G
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Lipe
|
lipase E, hormone sensitive type
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|
ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:90,093,433...90,112,117
Ensembl chr 1:90,093,433...90,112,117
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G
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Ltbp4
|
latent transforming growth factor beta binding protein 4
|
|
ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:91,727,769...91,759,822
Ensembl chr 1:91,727,769...91,760,006
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G
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Lypd4
|
Ly6/Plaur domain containing 4
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|
ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:89,588,368...89,594,287
Ensembl chr 1:89,588,368...89,593,890
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G
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Map3k10
|
mitogen activated protein kinase kinase kinase 10
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|
ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,083,376...92,101,676
Ensembl chr 1:92,083,376...92,101,676
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G
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Megf8
|
multiple EGF-like-domains 8
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|
ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:90,030,057...90,079,423
Ensembl chr 1:90,030,388...90,079,422
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G
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Mia
|
MIA SH3 domain containing
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|
ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:91,601,326...91,603,019
Ensembl chr 1:91,601,327...91,603,019
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G
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Numbl
|
NUMB-like, endocytic adaptor protein
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|
ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:91,677,437...91,701,415
Ensembl chr 1:91,677,242...91,701,424
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G
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Pafah1b3
|
platelet-activating factor acetylhydrolase 1b, catalytic subunit 3
|
|
ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:90,009,085...90,011,611
Ensembl chr 1:90,009,085...90,011,611
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G
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Pld3
|
phospholipase D family, member 3
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|
ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:91,949,465...91,971,834
Ensembl chr 1:91,949,467...91,961,207
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G
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Plekhg2
|
pleckstrin homology and RhoGEF domain containing G2
|
|
ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,779,449...92,792,610
Ensembl chr 1:92,779,449...92,792,610
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G
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Pou2f2
|
POU class 2 homeobox 2
|
|
ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:89,810,153...89,897,560
Ensembl chr 1:89,812,093...89,897,564
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G
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Prr19
|
proline rich 19
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|
ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:90,012,307...90,017,988
Ensembl chr 1:90,014,027...90,017,997
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G
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Prx
|
periaxin
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|
ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:91,912,669...91,934,754
Ensembl chr 1:91,911,999...91,937,235
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G
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Psmc4
|
proteasome 26S subunit, ATPase 4
|
|
ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,476,690...92,485,268
Ensembl chr 1:92,476,690...92,485,060
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G
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Rab4b
|
RAB4B, member RAS oncogene family
|
|
ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:91,589,047...91,600,426
Ensembl chr 1:91,589,047...91,600,337
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G
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Rabac1
|
Rab acceptor 1
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|
ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:89,691,884...89,695,017
Ensembl chr 1:89,691,884...89,695,017
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G
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Rps16
|
ribosomal protein S16
|
|
ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,770,658...92,773,603
Ensembl chr19:56,922,246...56,923,020 Ensembl chr 1:56,922,246...56,923,020
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G
|
Rps19
|
ribosomal protein S19
|
|
ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:89,608,408...89,614,390
Ensembl chr 7:104,324,520...104,325,132 Ensembl chr 1:104,324,520...104,325,132
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G
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Selenov
|
selenoprotein V
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ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,679,034...92,686,320
Ensembl chr 1:92,679,034...92,686,320
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G
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Sertad1
|
SERTA domain containing 1
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|
ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:91,903,297...91,906,565
Ensembl chr 1:91,891,814...91,907,001
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G
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Sertad3
|
SERTA domain containing 3
|
|
ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:91,891,141...91,894,861
Ensembl chr 1:91,893,616...91,897,110
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G
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Shkbp1
|
Sh3kbp1 binding protein 1
|
|
ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:91,764,426...91,777,959
Ensembl chr 1:91,764,426...91,778,158
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G
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Snrpa
|
small nuclear ribonucleoprotein polypeptide A
|
|
ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:91,609,419...91,618,119
Ensembl chr 1:91,609,420...91,618,042
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G
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Sptbn4
|
spectrin, beta, non-erythrocytic 4
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|
ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:91,778,379...91,865,970
Ensembl chr 1:91,778,380...91,865,049
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G
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Supt5h
|
SPT5 homolog, DSIF elongation factor subunit
|
|
ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,714,276...92,745,489
Ensembl chr 1:92,714,281...92,744,445
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G
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Tgfb1
|
transforming growth factor, beta 1
|
|
ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899
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G
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Timm50
|
translocase of inner mitochondrial membrane 50
|
|
ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,702,437...92,710,311
Ensembl chr 1:92,702,437...92,710,311
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G
|
Tmem145
|
transmembrane protein 145
|
|
ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:90,019,727...90,029,432
Ensembl chr 1:90,019,745...90,029,427
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G
|
Tmem91
|
transmembrane protein 91
|
|
ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:90,307,264...90,314,796
Ensembl chr 1:90,306,289...90,313,320
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|
G
|
Ttc9b
|
tetratricopeptide repeat domain 9B
|
|
ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:92,081,026...92,083,208
Ensembl chr 1:92,080,806...92,083,203
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G
|
Twist1
|
twist family bHLH transcription factor 1
|
|
ISO
|
ClinVar Annotator: match by term: CRANIOSYNOSTOSIS 1 | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
OMIM ClinVar |
PMID:1240778 PMID:8968762 PMID:8988166 PMID:8988167 PMID:9259286 PMID:9585583 PMID:9792856 PMID:10094188 PMID:10649491 PMID:10749989 PMID:11248247 PMID:11474656 PMID:11748846 PMID:11754069 PMID:11977182 PMID:11992718 PMID:12116251 PMID:12791045 PMID:14513358 PMID:15923834 PMID:16251895 PMID:16838304 PMID:17343269 PMID:17693524 PMID:18391498 PMID:19373776 PMID:19483581 PMID:19755431 PMID:19952666 PMID:20184424 PMID:20643727 PMID:21520333 PMID:21876555 PMID:22382802 PMID:22544111 PMID:22982246 PMID:24127277 PMID:25271085 PMID:25741868 PMID:26114524 PMID:27884935 PMID:28369379 PMID:28492532 PMID:29037998 PMID:29304373 PMID:30074960 PMID:30450715 PMID:30651579 PMID:31299755 PMID:31754721 PMID:31837199 PMID:32909287 PMID:33369125 PMID:33547006 PMID:33937142 PMID:35591945 PMID:39033378 More...
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|
NCBI chr 6:56,402,309...56,404,303
Ensembl chr 6:56,398,061...56,404,965
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|
G
|
Zfp11
|
zinc finger protein 11
|
|
ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
|
ClinVar |
PMID:28492532 |
|
NCBI chr12:32,664,312...32,676,940
Ensembl chr12:32,650,373...32,677,739
|
|
G
|
Zfp526
|
zinc finger protein 526
|
|
ISO
|
ClinVar Annotator: match by term: TWIST1-related craniosynostosis
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ClinVar |
PMID:28492532 |
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NCBI chr 1:89,935,604...89,945,669
Ensembl chr 1:89,933,478...89,956,958
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G
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Zfp574
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zinc finger protein 574
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ISO
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ClinVar Annotator: match by term: TWIST1-related craniosynostosis
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ClinVar |
PMID:28492532 |
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NCBI chr 1:89,798,412...89,805,490
Ensembl chr 1:89,760,956...89,813,198
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G
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Znf780b
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zinc finger protein 780B
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ISO
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ClinVar Annotator: match by term: TWIST1-related craniosynostosis
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ClinVar |
PMID:28492532 |
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NCBI chr 1:92,136,761...92,159,076
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G
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Msx2
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msh homeobox 2
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ISO
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ClinVar Annotator: match by term: Craniosynostosis 2 | ClinVar Annotator: match by term: Warman-Mulliken-Hayward syndrome CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:7597092 PMID:8106171 PMID:8357019 PMID:8968743 PMID:9256341 PMID:10742103 PMID:16319823 PMID:18786927 PMID:20301307 PMID:23918290 PMID:23949913 PMID:25741868 PMID:27013732 PMID:28492532 More...
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NCBI chr17:11,102,284...11,107,949
Ensembl chr17:11,102,247...11,107,945
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G
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Fgfr3
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fibroblast growth factor receptor 3
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ISO
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ClinVar Annotator: match by term: Coronal craniosynostosis
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ClinVar |
PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 PMID:9279764 PMID:9300656 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9843059 PMID:9950359 PMID:10094188 PMID:10861678 PMID:11424131 PMID:11746040 PMID:12362036 PMID:14613973 PMID:15241680 PMID:15915095 PMID:16501574 PMID:17552943 PMID:18000976 PMID:19215249 PMID:20301588 PMID:20301628 PMID:22016144 PMID:22622662 PMID:24728327 PMID:24864036 PMID:25271085 PMID:25614871 PMID:25741868 PMID:26740388 PMID:28492532 PMID:32238909 More...
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NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209
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G
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Tcf12
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transcription factor 12
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ISO
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ClinVar Annotator: match by term: Coronal craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 3 | ClinVar Annotator: match by term: TCF12-related condition
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OMIM ClinVar |
PMID:23354436 PMID:24736737 PMID:25271085 PMID:25741868 PMID:28492532 PMID:28808027 PMID:29168297 PMID:29215649 PMID:30038786 PMID:30858722 PMID:31127942 PMID:32620954 PMID:32629054 PMID:32693025 PMID:33004838 PMID:33461977 PMID:33547006 PMID:33904513 PMID:34906502 PMID:35468861 More...
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NCBI chr 8:81,371,201...81,682,337
Ensembl chr 8:81,373,321...81,679,922
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G
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Twist1
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twist family bHLH transcription factor 1
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ISO
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ClinVar Annotator: match by term: Coronal craniosynostosis
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ClinVar |
PMID:25741868 |
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NCBI chr 6:56,402,309...56,404,303
Ensembl chr 6:56,398,061...56,404,965
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G
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Erf
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Ets2 repressor factor
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ISO
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ClinVar Annotator: match by term: Craniosynostosis 4
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OMIM ClinVar |
PMID:23354439 PMID:25741868 PMID:26097063 PMID:27738187 PMID:28492532 PMID:28808027 PMID:29215649 PMID:29758562 PMID:30758909 PMID:32370745 PMID:35852485 More...
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NCBI chr 1:89,957,760...89,966,213
Ensembl chr 1:89,957,760...89,966,213
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G
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Myh7
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myosin heavy chain 7
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ISO
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ClinVar Annotator: match by term: Craniosynostosis 4
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ClinVar |
PMID:25741868 PMID:28492532 PMID:29892087 PMID:31737537 |
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NCBI chr15:32,416,525...32,439,851
Ensembl chr15:32,416,527...32,438,194
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G
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Alx4
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ALX homeobox 4
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ISO
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ClinVar Annotator: match by term: Craniosynostosis 5, susceptibility to
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ClinVar OMIM |
PMID:22829454 PMID:25741868 PMID:28492532 |
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NCBI chr 3:100,067,052...100,103,624
Ensembl chr 3:100,067,052...100,103,624
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G
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Zic1
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Zic family member 1
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ISO
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ClinVar Annotator: match by term: Craniosynostosis 6 | ClinVar Annotator: match by term: ZIC1-related condition
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OMIM ClinVar |
PMID:25741868 PMID:26340333 PMID:28492532 |
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NCBI chr 8:100,785,282...100,797,716
Ensembl chr 8:100,787,789...100,792,427
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G
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Bmp2
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bone morphogenetic protein 2
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ISO
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ClinVar Annotator: match by term: Craniosynostosis 7
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ClinVar |
PMID:27606499 |
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NCBI chr 3:141,264,648...141,275,416
Ensembl chr 3:141,264,646...141,274,760
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G
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Smad6
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SMAD family member 6
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susceptibility
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ISO
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ClinVar Annotator: match by term: CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: CRS7, DIGENIC | ClinVar Annotator: match by term: Craniosynostosis 7
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ClinVar OMIM |
PMID:9536098 PMID:17576681 PMID:22275001 PMID:25741868 PMID:27606499 PMID:28492532 PMID:28808027 PMID:30796334 PMID:32499606 PMID:34953066 More...
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NCBI chr 8:73,345,457...73,414,985
Ensembl chr 8:73,345,460...73,414,149
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G
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Il11ra1
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interleukin 11 receptor subunit alpha 1
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ISO
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ClinVar Annotator: match by term: Craniosynostosis and dental anomalies | ClinVar Annotator: match by term: IL11RA-related condition
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OMIM ClinVar |
PMID:21741611 PMID:24498618 PMID:25741868 PMID:28492532 PMID:30282020 PMID:32860008 PMID:34906502 More...
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NCBI chr 5:61,727,650...61,737,265
Ensembl chr 5:61,727,931...61,737,264
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G
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Adamtsl4
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ADAMTS-like 4
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ISO
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ClinVar Annotator: match by term: Craniosynostosis syndrome
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ClinVar |
PMID:20564469 PMID:25741868 PMID:28492532 PMID:28642162 PMID:31837199 |
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NCBI chr 2:185,924,582...185,936,039
Ensembl chr 2:185,924,594...185,935,796
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G
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Alg6
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ALG6, alpha-1,3-glucosyltransferase
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ISO
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ClinVar Annotator: match by term: Craniosynostosis syndrome
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ClinVar |
PMID:25741868 |
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NCBI chr 5:119,520,415...119,606,365
Ensembl chr 5:119,520,430...119,606,659
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G
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Axin2
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axin 2
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ISO
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ClinVar Annotator: match by term: Craniosynostosis syndrome
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:94,393,379...94,426,579
Ensembl chr10:94,395,909...94,426,575
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G
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Clasp1
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cytoplasmic linker associated protein 1
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ISO
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ClinVar Annotator: match by term: Craniosynostosis syndrome
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ClinVar |
PMID:25741868 PMID:26522830 PMID:28492532 PMID:28669401 PMID:32628740 |
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NCBI chr13:32,046,362...32,267,954
Ensembl chr13:32,046,444...32,267,924
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G
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Cnpy2
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canopy FGF signaling regulator 2
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ISO
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ClinVar Annotator: match by term: Craniosynostosis syndrome
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ClinVar |
PMID:25741868 |
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NCBI chr 7:1,332,293...1,338,081
Ensembl chr 7:1,334,335...1,340,333
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G
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Ctnna1
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catenin alpha 1
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ISO
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ClinVar Annotator: match by term: Craniosynostosis syndrome
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ClinVar |
PMID:31292255 |
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NCBI chr18:27,002,330...27,135,009
Ensembl chr18:26,999,820...27,135,007
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G
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Cyp26b1
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cytochrome P450, family 26, subfamily b, polypeptide 1
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ISO
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ClinVar Annotator: match by term: Craniosynostosis syndrome
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ClinVar |
PMID:25741868 PMID:31837199 |
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NCBI chr 4:118,599,356...118,616,176
Ensembl chr 4:118,599,356...118,616,176
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G
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Dhrs3
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dehydrogenase/reductase 3
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ISO
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ClinVar Annotator: match by term: Craniosynostosis syndrome
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ClinVar |
PMID:25741868 |
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NCBI chr 5:162,031,853...162,065,655
Ensembl chr 5:162,031,386...162,065,653
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G
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Efcab7
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EF-hand calcium binding domain 7
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ISO
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ClinVar Annotator: match by term: Craniosynostosis syndrome
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ClinVar |
PMID:25741868 |
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NCBI chr 5:119,640,841...119,691,566
Ensembl chr 5:119,640,761...119,691,563
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G
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Erf
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Ets2 repressor factor
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ISO
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ClinVar Annotator: match by term: Craniosynostosis syndrome
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ClinVar |
PMID:25741868 PMID:31837199 |
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NCBI chr 1:89,957,760...89,966,213
Ensembl chr 1:89,957,760...89,966,213
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G
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Fbn1
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fibrillin 1
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ISO
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ClinVar Annotator: match by term: Craniosynostosis syndrome
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ClinVar |
PMID:25741868 PMID:31837199 |
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NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283
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G
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Fbn2
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fibrillin 2
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ISO
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ClinVar Annotator: match by term: Craniosynostosis syndrome
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr18:53,696,197...53,901,992
Ensembl chr18:53,697,708...53,902,191
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G
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Fgfr1
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Fibroblast growth factor receptor 1
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ISO
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ClinVar Annotator: match by term: Craniosynostosis syndrome
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ClinVar |
PMID:9536098 PMID:10629055 PMID:12627230 PMID:15365636 PMID:15605412 PMID:16764984 PMID:17154279 PMID:17360555 PMID:17576681 PMID:17963255 PMID:18160472 PMID:18985070 PMID:19707180 PMID:20696889 PMID:22378383 PMID:23329143 PMID:23348397 PMID:23657145 PMID:24031091 PMID:25064402 PMID:25383892 PMID:25425165 PMID:25741868 PMID:25759380 PMID:26467025 PMID:26931467 PMID:27884173 PMID:28492532 More...
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NCBI chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855
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G
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Fgfr2
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fibroblast growth factor receptor 2
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ISO
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ClinVar Annotator: match by term: Craniosynostosis syndrome
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ClinVar |
PMID:7607643 PMID:7719345 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8650126 PMID:8755573 PMID:8957519 PMID:11781872 PMID:15316116 PMID:16158432 PMID:16418739 PMID:16838304 PMID:17264867 PMID:20133659 PMID:22558232 PMID:24127277 PMID:24728327 PMID:25271085 PMID:25425289 PMID:25741868 PMID:26325558 PMID:26429889 PMID:26467025 PMID:27240702 PMID:28492532 More...
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NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914
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G
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Fgfr3
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fibroblast growth factor receptor 3
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ISO
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ClinVar Annotator: match by term: Craniosynostosis syndrome
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ClinVar |
PMID:7493034 PMID:8723106 PMID:8841188 PMID:8880573 PMID:9042914 PMID:9107244 PMID:9279753 PMID:9279764 PMID:9300656 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10094188 PMID:10861678 PMID:11424131 PMID:11426459 PMID:11746040 PMID:12362036 PMID:14613973 PMID:15241680 PMID:15915095 PMID:16501574 PMID:17552943 PMID:17935505 PMID:18000976 PMID:18976668 PMID:19215249 PMID:20199409 PMID:20301588 PMID:20301628 PMID:21536014 PMID:22016144 PMID:22622662 PMID:23437153 PMID:24728327 PMID:24864036 PMID:25271085 PMID:25326635 PMID:25614871 PMID:25741868 PMID:26740388 PMID:28492532 PMID:31016899 PMID:32238909 More...
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NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209
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G
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Foxd3
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forkhead box D3
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ISO
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ClinVar Annotator: match by term: Craniosynostosis syndrome
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ClinVar |
PMID:25741868 |
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NCBI chr 5:119,450,532...119,452,898
Ensembl chr 5:119,450,394...119,452,786
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G
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Gli2
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GLI family zinc finger 2
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ISO
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ClinVar Annotator: match by term: Craniosynostosis syndrome
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ClinVar |
PMID:31292255 |
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NCBI chr13:32,499,678...32,716,418
Ensembl chr13:32,499,678...32,716,418
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G
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Gli3
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GLI family zinc finger 3
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ISO
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ClinVar Annotator: match by term: Craniosynostosis syndrome
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ClinVar |
PMID:21326280 PMID:22903559 PMID:24736735 PMID:25741868 |
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NCBI chr17:54,134,064...54,405,198
Ensembl chr17:54,134,064...54,405,198
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G
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Gpc4
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glypican 4
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ISO
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ClinVar Annotator: match by term: Craniosynostosis syndrome
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ClinVar |
PMID:31292255 |
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NCBI chr X:136,565,536...136,676,142
Ensembl chr X:136,565,591...136,676,057
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G
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Grin2b
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glutamate ionotropic receptor NMDA type subunit 2B
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ISO
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ClinVar Annotator: match by term: Craniosynostosis syndrome
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ClinVar |
PMID:25741868 |
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NCBI chr 4:170,297,811...170,775,420
Ensembl chr 4:170,322,617...170,773,570
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G
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Hapln2
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hyaluronan and proteoglycan link protein 2
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ISO
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ClinVar Annotator: match by term: Craniosynostosis syndrome
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ClinVar |
PMID:25741868 |
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NCBI chr 2:175,786,767...175,794,515
Ensembl chr 2:175,789,009...175,794,438
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G
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Igf1r
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insulin-like growth factor 1 receptor
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ISO
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ClinVar Annotator: match by term: Craniosynostosis syndrome
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ClinVar |
PMID:25741868 PMID:31837199 |
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NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:130,959,997...131,248,664
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G
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Il11ra1
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interleukin 11 receptor subunit alpha 1
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ISO
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ClinVar Annotator: match by term: Craniosynostosis syndrome
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ClinVar |
PMID:25741868 PMID:28492532 PMID:31837199 |
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NCBI chr 5:61,727,650...61,737,265
Ensembl chr 5:61,727,931...61,737,264
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G
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Itgb3bp
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integrin subunit beta 3 binding protein
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ISO
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ClinVar Annotator: match by term: Craniosynostosis syndrome
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ClinVar |
PMID:25741868 |
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NCBI chr 5:119,575,657...119,640,974
Ensembl chr 5:119,575,248...119,640,997
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G
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Kat6a
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lysine acetyltransferase 6A
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ISO
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ClinVar Annotator: match by term: Craniosynostosis syndrome
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ClinVar |
PMID:25741868 PMID:30245513 PMID:31292255 |
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NCBI chr16:75,787,411...75,868,584
Ensembl chr16:75,787,411...75,866,099
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G
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Man2b1
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mannosidase, alpha, class 2B, member 1
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ISO
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ClinVar Annotator: match by term: Craniosynostosis syndrome
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ClinVar |
PMID:25741868 |
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NCBI chr19:39,959,964...39,979,299
Ensembl chr19:39,959,965...39,979,246
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G
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Megf8
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multiple EGF-like-domains 8
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ISO
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ClinVar Annotator: match by term: Craniosynostosis syndrome
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ClinVar |
PMID:23063620 PMID:25741868 PMID:28914635 PMID:29168297 |
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NCBI chr 1:90,030,057...90,079,423
Ensembl chr 1:90,030,388...90,079,422
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G
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Msx1
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msh homeobox 1
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ISO
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ClinVar Annotator: match by term: Craniosynostosis syndrome
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ClinVar |
PMID:25741868 PMID:28492532 PMID:31837199 |
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NCBI chr14:77,185,802...77,189,735
Ensembl chr14:77,185,802...77,189,735
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G
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Msx2
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msh homeobox 2
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ISO
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ClinVar Annotator: match by term: Craniosynostosis syndrome
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ClinVar |
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NCBI chr17:11,102,284...11,107,949
Ensembl chr17:11,102,247...11,107,945
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G
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Npr2
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natriuretic peptide receptor 2
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ISO
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ClinVar Annotator: match by term: Craniosynostosis syndrome
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ClinVar |
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NCBI chr 5:62,678,197...62,697,360
Ensembl chr 5:62,678,367...62,697,343
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G
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Pgm1
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phosphoglucomutase 1
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ISO
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ClinVar Annotator: match by term: Craniosynostosis syndrome
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ClinVar |
PMID:25741868 |
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NCBI chr 5:119,710,734...119,770,159
Ensembl chr 5:119,710,737...119,770,159
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G
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Prrx1
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paired related homeobox 1
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ISO
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ClinVar Annotator: match by term: Craniosynostosis syndrome
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ClinVar |
PMID:21294718 PMID:22211708 PMID:22674740 PMID:23444262 PMID:25741868 PMID:37154149 More...
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NCBI chr13:78,136,783...78,205,379
Ensembl chr13:78,136,783...78,204,058
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G
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Ptch1
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patched 1
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ISO
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ClinVar Annotator: match by term: Craniosynostosis syndrome
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ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31837199 More...
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NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,548,449...1,613,461
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G
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Runx2
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RUNX family transcription factor 2
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ISO
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ClinVar Annotator: match by term: Craniosynostosis syndrome
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ClinVar |
PMID:25741868 |
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NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:23,664,952...23,990,027
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G
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Sox11
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SRY-box transcription factor 11
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ISO
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ClinVar Annotator: match by term: Craniosynostosis syndrome
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ClinVar |
PMID:31292255 |
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NCBI chr 6:49,736,773...49,738,794
Ensembl chr 6:49,736,304...49,738,691
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G
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Specc1l
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sperm antigen with calponin homology and coiled-coil domains 1-like
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ISO
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ClinVar Annotator: match by term: Craniosynostosis syndrome
|
ClinVar |
PMID:25741868 PMID:28492532 PMID:31837199 |
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NCBI chr20:13,337,399...13,443,080
Ensembl chr20:13,339,108...13,443,079
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G
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Tcf12
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transcription factor 12
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ISO
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ClinVar Annotator: match by term: Craniosynostosis syndrome
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ClinVar |
PMID:23354436 PMID:25741868 PMID:28492532 PMID:30038786 PMID:31837199 PMID:32620954 More...
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NCBI chr 8:81,371,201...81,682,337
Ensembl chr 8:81,373,321...81,679,922
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G
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Tfap2b
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transcription factor AP-2 beta
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ISO
|
ClinVar Annotator: match by term: Craniosynostosis syndrome
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ClinVar |
PMID:31292255 |
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NCBI chr 9:29,282,703...29,312,568
Ensembl chr 9:29,282,825...29,312,568
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G
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Tgfbr1
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transforming growth factor, beta receptor 1
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ISO
|
ClinVar Annotator: match by term: Craniosynostosis syndrome
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ClinVar |
PMID:25741868 PMID:31837199 |
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NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:66,449,293...66,527,260
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G
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Trps1
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transcriptional repressor GATA binding 1
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ISO
|
ClinVar Annotator: match by term: Craniosynostosis syndrome
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ClinVar |
|
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NCBI chr 7:83,806,121...84,032,609
Ensembl chr 7:83,811,497...84,031,786
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G
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Wdr19
|
WD repeat domain 19
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ISO
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ClinVar Annotator: match by term: Craniosynostosis syndrome
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ClinVar |
PMID:25741868 PMID:28492532 PMID:31837199 |
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NCBI chr14:43,396,130...43,460,012
Ensembl chr14:43,397,835...43,459,939
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G
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Zfp462
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zinc finger protein 462
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ISO
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ClinVar Annotator: match by term: Craniosynostosis syndrome
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ClinVar |
PMID:28513610 |
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NCBI chr 5:74,465,383...74,606,020
Ensembl chr 5:74,468,643...74,606,020
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G
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Adamtsl4
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ADAMTS-like 4
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ISO
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ClinVar Annotator: match by term: Craniosynostosis with ectopia lentis
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ClinVar |
PMID:2056446 PMID:9536098 PMID:17576681 PMID:20564469 PMID:20702823 PMID:21051722 PMID:21270786 PMID:22338190 PMID:22736615 PMID:22871183 PMID:24033266 PMID:25741868 PMID:25975359 PMID:27981572 PMID:28492532 PMID:28642162 PMID:35378950 PMID:36089008 More...
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NCBI chr 2:185,924,582...185,936,039
Ensembl chr 2:185,924,594...185,935,796
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G
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Rnu12
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RNA, U12 small nuclear
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ISO
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ClinVar Annotator: match by term: CDAGS syndrome CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:2400728 PMID:9733036 PMID:23602181 PMID:25741868 PMID:28217872 PMID:34085356 More...
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NCBI chr 7:116,183,590...116,183,740
Ensembl chr 7:116,183,590...116,183,740
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G
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Fgfr2
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fibroblast growth factor receptor 2
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ISO ISS
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ClinVar Annotator: match by term: Craniofacial dysostosis | ClinVar Annotator: match by term: Craniofacial dysostosis type 1 | ClinVar Annotator: match by term: Crouzon disease | ClinVar Annotator: match by term: Crouzon syndrome OMIM:123500 DNA:missense mutations:CDS:multiple (human) DNA:missense mutations:cds:p.Y281C, p.G289P (human) DNA:missense mutations, silent mutation:cds:multiple (human) DNA:missense mutations:cds:multiple (human) CTD Direct Evidence: marker/mechanism
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OMIM ClinVar MouseDO CTD RGD |
PMID:1519658 PMID:1641873 PMID:1697263 PMID:2172978 PMID:4078868 PMID:7573032 PMID:7581378 PMID:7607643 PMID:7655462 PMID:7668257 PMID:7719329 PMID:7719344 PMID:7719345 PMID:7773284 PMID:7874170 PMID:7987400 PMID:7989400 PMID:8434615 PMID:8522336 PMID:8528214 PMID:8644708 PMID:8650126 PMID:8651276 PMID:8696350 PMID:8755573 PMID:8946174 PMID:8957519 PMID:8958319 PMID:9002682 PMID:9048930 PMID:9152842 PMID:9169049 PMID:9385368 PMID:9462761 PMID:9521581 PMID:9536098 PMID:9539778 PMID:9585583 PMID:9586546 PMID:9605588 PMID:9677057 PMID:9700203 PMID:9714439 PMID:9719378 PMID:10067911 PMID:10076886 PMID:10076887 PMID:10394936 PMID:10406670 PMID:10541159 PMID:10633130 PMID:10712195 PMID:10735635 PMID: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:15523492 PMID:15793702 PMID:15883293 PMID:15975938 PMID:15996217 PMID:16061565 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16470531 PMID:16501574 PMID:16531735 PMID:16740155 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17264867 PMID:17525745 PMID:17576681 PMID:17621648 PMID:17693524 PMID:18726952 PMID:19066959 PMID:19610084 PMID:20133659 PMID:20301628 PMID:20489451 PMID:20503384 PMID:20643727 PMID:20856019 PMID:21397175 PMID:22387015 PMID:22558232 PMID:22664175 PMID:22665975 PMID:23348274 PMID:23430493 PMID:23431754 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23754559 PMID:23787031 PMID:23995961 PMID:24016645 PMID:24127277 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25209230 PMID:25245177 PMID:25271085 PMID:25343114 PMID:25361936 PMID:25425289 PMID:25706251 PMID:25741868 PMID:25759925 PMID:25759927 PMID:25867380 PMID:25937001 PMID:26325558 PMID:26362256 PMID:26380986 PMID:26429889 PMID:26467025 PMID:26557159 PMID:27028366 PMID:27079505 PMID:27228464 PMID:27323706 PMID:27430617 PMID:27481450 PMID:27683237 PMID:28492532 PMID:28611549 PMID:28901406 PMID:29037998 PMID:29848297 PMID:31145570 PMID:32879300 PMID:36474027 PMID:37086723 PMID:7987400 PMID:11380921 PMID:7874170 PMID:11711827 More...
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RGD:155663659, RGD:12801472, RGD:12801470, RGD:12801466 |
NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914
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G
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Fgfr3
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fibroblast growth factor receptor 3
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ISO
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ClinVar Annotator: match by term: Craniofacial dysostosis
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ClinVar |
PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 PMID:9279764 PMID:9300656 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9843059 PMID:9950359 PMID:10094188 PMID:10861678 PMID:11424131 PMID:11746040 PMID:12362036 PMID:14613973 PMID:15241680 PMID:15915095 PMID:16501574 PMID:17552943 PMID:18000976 PMID:19215249 PMID:20301588 PMID:20301628 PMID:22016144 PMID:22622662 PMID:24728327 PMID:24864036 PMID:25271085 PMID:25614871 PMID:25741868 PMID:26740388 PMID:28492532 PMID:32238909 More...
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NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209
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G
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Fgfr3
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fibroblast growth factor receptor 3
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ISO
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ClinVar Annotator: match by term: CROUZONODERMOSKELETAL SYNDROME | ClinVar Annotator: match by term: Crouzon syndrome-acanthosis nigricans syndrome DNA:missense mutation:p.A391E(human) CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD RGD |
PMID:1908846 PMID:7493034 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589686 PMID:8589699 PMID:8599935 PMID:8640234 PMID:8673103 PMID:8723101 PMID:8723106 PMID:8754806 PMID:8841188 PMID:8845844 PMID:8858131 PMID:8880573 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9300656 PMID:9438390 PMID:9452043 PMID:9525367 PMID:9536098 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9672519 PMID:9677066 PMID:9790257 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10360392 PMID:10361991 PMID:10395236 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10777366 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11426459 PMID:11529856 PMID:11746040 PMID:11754059 PMID:11879084 PMID:12009017 PMID:12362036 PMID:12624096 PMID:12707965 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15843401 PMID:15915095 PMID:16501574 PMID:16752380 PMID:16766665 PMID:16841094 PMID:16912704 PMID:17033969 PMID:17256796 PMID:17320202 PMID:17384684 PMID:17509076 PMID:17552943 PMID:17576681 PMID:17875876 PMID:17935505 PMID:18000976 PMID:18076102 PMID:18198189 PMID:18266238 PMID:18583390 PMID:18642369 PMID:18976668 PMID:19088846 PMID:19215249 PMID:19749790 PMID:19855393 PMID:20199409 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20420824 PMID:20453470 PMID:20624921 PMID:20704477 PMID:21273588 PMID:21324899 PMID:21510009 PMID:21536014 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22339077 PMID:22622662 PMID:23056398 PMID:23149434 PMID:23165795 PMID:23437153 PMID:23972473 PMID:24075385 PMID:24120763 PMID:24715719 PMID:24728327 PMID:24863959 PMID:24864036 PMID:25271085 PMID:25326635 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25809207 PMID:26380986 PMID:26740388 PMID:26818779 PMID:28230213 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29620724 PMID:29681095 PMID:29758562 PMID:30138938 PMID:30635042 PMID:30692697 PMID:31016899 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32360156 PMID:32502767 PMID:33942288 PMID:34930662 PMID:35726512 PMID:36135330 PMID:36474027 PMID:7493034 More...
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RGD:11568032 |
NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209
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G
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Fgd1
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FYVE, RhoGEF and PH domain containing 1
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ISO
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ClinVar Annotator: match by term: TSR2-related condition
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ClinVar |
PMID:24033266 PMID:28492532 |
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NCBI chr X:23,466,791...23,509,773
Ensembl chr X:23,467,530...23,509,979
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G
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Tsr2
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TSR2, ribosome maturation factor
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ISO
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ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis | ClinVar Annotator: match by term: TSR2-related condition
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OMIM ClinVar |
PMID:11424144 PMID:24033266 PMID:24942156 PMID:25741868 PMID:28492532 |
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NCBI chr X:23,507,141...23,515,711
Ensembl chr X:23,507,142...23,515,659
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G
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Rps26
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ribosomal protein S26
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ISO
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ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
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ClinVar |
PMID:17483715 PMID:19816270 PMID:20116044 PMID:23718193 PMID:24675553 PMID:24942156 PMID:28492532 More...
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NCBI chr 7:1,641,846...1,643,404
Ensembl chr 7:1,641,421...1,643,399
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G
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Rps28
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ribosomal protein S28
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ISO
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ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | ClinVar Annotator: match by term: RPS28-related condition
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OMIM ClinVar |
PMID:24942156 PMID:25741868 PMID:28492532 |
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NCBI chr 7:15,309,964...15,311,333
Ensembl chr16:72,591,164...72,591,373 Ensembl chr 7:72,591,164...72,591,373 Ensembl chr16:72,591,164...72,591,373
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G
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Tsr2
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TSR2, ribosome maturation factor
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ISO
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ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
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ClinVar |
PMID:11424144 PMID:24942156 |
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NCBI chr X:23,507,141...23,515,711
Ensembl chr X:23,507,142...23,515,659
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G
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Bmper
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BMP-binding endothelial regulator
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: BMPER-related condition | ClinVar Annotator: match by term: Diaphanospondylodysostosis
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OMIM CTD ClinVar |
PMID:20869035 PMID:21990102 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30006055 More...
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NCBI chr 8:30,008,049...30,253,201
Ensembl chr 8:30,008,148...30,434,359
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G
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Trpv4
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transient receptor potential cation channel, subfamily V, member 4
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ISO
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ClinVar Annotator: match by term: Familial digital arthropathy-brachydactyly CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:4056805 PMID:8179305 PMID:11891693 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20460441 PMID:21288981 PMID:21336783 PMID:21454511 PMID:21964574 PMID:22702953 PMID:24575025 PMID:24789864 PMID:24963089 PMID:25256292 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27751652 PMID:28251916 PMID:28492532 PMID:29858556 PMID:30230566 PMID:30373780 PMID:39033378 PMID:39825153 More...
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NCBI chr12:47,599,161...47,638,143
Ensembl chr12:47,599,035...47,638,143
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G
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Myh3
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myosin heavy chain 3
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ISO
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ClinVar Annotator: match by term: Arthrogryposis, distal, type 2A (Freeman-Sheldon)
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OMIM ClinVar |
PMID:16199547 PMID:16642020 PMID:18695058 PMID:19142688 PMID:25256237 PMID:25741868 PMID:28492532 PMID:28779239 PMID:29805041 PMID:30008475 PMID:30826400 PMID:34136434 More...
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NCBI chr10:52,269,185...52,293,000
Ensembl chr10:52,269,185...52,293,000
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G
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Lyset
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lysosomal enzyme trafficking factor
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ISO
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ClinVar Annotator: match by term: Dysostosis multiplex, Ain-Naz type
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OMIM ClinVar |
PMID:25741868 PMID:33252156 PMID:36074821 |
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NCBI chr 6:127,649,401...127,651,143
Ensembl chr 6:127,649,450...127,652,661
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G
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Nectin4
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nectin cell adhesion molecule 4
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ISO
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ClinVar Annotator: match by term: Ectodermal dysplasia-syndactyly syndrome 1 | ClinVar Annotator: match by term: NECTIN4-related condition
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OMIM ClinVar |
PMID:20691405 PMID:21346770 PMID:24577405 PMID:25529316 PMID:25741868 PMID:28492532 More...
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NCBI chr13:86,335,027...86,354,152
Ensembl chr13:86,335,831...86,353,967
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G
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Ank2
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ankyrin 2
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ISO
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ClinVar Annotator: match by term: Du pan syndrome
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ClinVar |
PMID:228900 PMID:258150 |
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NCBI chr 2:218,052,555...218,628,414
Ensembl chr 2:218,052,555...218,537,259
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G
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Gdf5
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growth differentiation factor 5
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ISO ISS
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ClinVar Annotator: match by term: Acromesomelic dysplasia 2B | ClinVar Annotator: match by term: Du pan syndrome OMIM:228900 CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:T1322C (p.L441P)(human)
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OMIM ClinVar MouseDO CTD RGD |
PMID:12121354 PMID:16014698 PMID:16127465 PMID:17384641 PMID:18629880 PMID:21976273 PMID:25741868 PMID:28492532 PMID:12121354 More...
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RGD:12437084 |
NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:164,914,401...164,918,593
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G
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Ckap2l
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cytoskeleton associated protein 2-like
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ISO
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ClinVar Annotator: match by term: CKAP2L-related condition | ClinVar Annotator: match by term: Filippi syndrome CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:8867657 PMID:15365457 PMID:18553552 PMID:25439729 PMID:25741868 PMID:28492532 PMID:34921061 More...
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NCBI chr 3:136,950,390...136,977,503
Ensembl chr 3:136,950,381...136,977,565
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G
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Hdlbp
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high density lipoprotein binding protein
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ISO
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ClinVar Annotator: match by term: Fine-Lubinsky syndrome
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ClinVar |
PMID:25741868 |
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NCBI chr 9:101,395,491...101,465,446
Ensembl chr 9:101,397,305...101,465,379
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G
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Por
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cytochrome p450 oxidoreductase
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ISO
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ClinVar Annotator: match by term: Fine-Lubinsky syndrome
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ClinVar |
PMID:22162478 PMID:25741868 |
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NCBI chr12:26,587,674...26,655,612
Ensembl chr12:26,587,674...26,635,809
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G
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Slc39a13
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solute carrier family 39 member 13
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ISO
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ClinVar Annotator: match by term: Fine-Lubinsky syndrome
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ClinVar |
PMID:25741868 |
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NCBI chr 3:97,495,229...97,504,279
Ensembl chr 3:97,495,229...97,505,052
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G
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Porcn
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porcupine O-acyltransferase
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ISO ISS
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ClinVar Annotator: match by term: Focal dermal hypoplasia | ClinVar Annotator: match by term: PORCN-related condition OMIM:305600 CTD Direct Evidence: marker/mechanism
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OMIM ClinVar MouseDO CTD |
PMID:17546030 PMID:17546031 PMID:18325042 PMID:19277062 PMID:19309688 PMID:19586929 PMID:19863546 PMID:20854095 PMID:21484999 PMID:22888000 PMID:23131169 PMID:25640089 PMID:25741868 PMID:28492532 PMID:29383603 PMID:30022487 PMID:32141364 More...
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NCBI chr X:16,957,811...16,970,440
Ensembl chr X:16,957,810...16,970,439
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G
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Ptch1
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patched 1
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ISO
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ClinVar Annotator: match by term: GORLIN-GOLTZ SYNDROME
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ClinVar |
PMID:1347096 PMID:8658145 PMID:11941477 PMID:16199547 PMID:16301862 PMID:16419085 PMID:18830227 PMID:19346217 PMID:20068110 PMID:23761049 PMID:24668667 PMID:24728327 PMID:24814739 PMID:25637381 PMID:25741868 PMID:26467025 PMID:26893459 PMID:28492532 PMID:28495808 PMID:31639285 More...
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NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,548,449...1,613,461
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G
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Ptch2
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patched 2
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ISO
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ClinVar Annotator: match by term: GORLIN-GOLTZ SYNDROME
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:135,808,856...135,829,087
Ensembl chr 5:135,808,895...135,828,986
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G
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Fras1
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Fraser extracellular matrix complex subunit 1
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ISS ISO
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ClinVar Annotator: match by term: CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS | ClinVar Annotator: match by term: Cryptophthalmos with other malformations | ClinVar Annotator: match by term: Fraser syndrome CTD Direct Evidence: marker/mechanism
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MouseDO ClinVar CTD |
PMID:9536098 PMID:12766769 PMID:16199547 PMID:17163535 PMID:17576681 PMID:18671281 PMID:21900877 PMID:22029163 PMID:23532946 PMID:24476948 PMID:24700879 PMID:25353622 PMID:25741868 PMID:26893459 PMID:27884173 PMID:28492532 PMID:28844315 PMID:29261186 PMID:30639323 PMID:31308072 PMID:31738409 PMID:33726816 PMID:34246755 PMID:34426522 PMID:34906515 More...
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NCBI chr14:13,095,370...13,506,895
Ensembl chr14:13,095,370...13,504,664
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G
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Frem1
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Fras1 related extracellular matrix 1
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ISS
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OMIM:219000
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MouseDO |
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NCBI chr 5:102,367,201...102,515,464
Ensembl chr 5:102,367,201...102,515,404
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G
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Frem2
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FRAS1 related extracellular matrix 2
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ISO ISS
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS | ClinVar Annotator: match by term: Cryptophthalmos with other malformations
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CTD ClinVar MouseDO |
PMID:17163535 PMID:18203166 PMID:25741868 PMID:26275891 PMID:26552811 PMID:28492532 More...
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NCBI chr 2:139,753,055...139,891,046
Ensembl chr 2:139,753,055...139,891,046
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G
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Grip1
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glutamate receptor interacting protein 1
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ISS ISO
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OMIM:219000 ClinVar Annotator: match by term: GRIP1-related condition
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MouseDO ClinVar |
PMID:21383172 PMID:25741868 PMID:28492532 |
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NCBI chr 7:56,820,501...57,477,877
Ensembl chr 7:56,820,704...57,468,417
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G
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Fras1
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Fraser extracellular matrix complex subunit 1
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ISO
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DNA:mutations:multiple (human) ClinVar Annotator: match by term: Cryptophthalmos syndrome | ClinVar Annotator: match by term: FRAS1-related condition | ClinVar Annotator: match by term: Fraser syndrome 1
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ClinVar OMIM RGD |
PMID:9536098 PMID:12766769 PMID:16199547 PMID:16894541 PMID:17163535 PMID:17576681 PMID:18671281 PMID:21900877 PMID:22029163 PMID:23532946 PMID:24476948 PMID:24551978 PMID:24583203 PMID:24700879 PMID:25353622 PMID:25741868 PMID:26302956 PMID:26633542 PMID:26893459 PMID:27280866 PMID:27457812 PMID:27859469 PMID:27884173 PMID:28492532 PMID:28844315 PMID:29261186 PMID:30639323 PMID:30653986 PMID:31308072 PMID:31319225 PMID:31738409 PMID:31923588 PMID:31999076 PMID:32436246 PMID:32488952 PMID:33726816 PMID:34246755 PMID:34426522 PMID:34556655 PMID:34906515 PMID:34974531 PMID:35005812 PMID:35595450 PMID:12766769 More...
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RGD:1598960 |
NCBI chr14:13,095,370...13,506,895
Ensembl chr14:13,095,370...13,504,664
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G
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Frem2
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FRAS1 related extracellular matrix 2
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ISO
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ClinVar Annotator: match by term: Fraser syndrome 1
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ClinVar |
PMID:9536098 PMID:17576681 PMID:18203166 PMID:25741868 PMID:26275891 PMID:26552811 PMID:28492532 More...
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NCBI chr 2:139,753,055...139,891,046
Ensembl chr 2:139,753,055...139,891,046
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G
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Grip1
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glutamate receptor interacting protein 1
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ISO
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ClinVar Annotator: match by term: Fraser syndrome 1
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ClinVar |
PMID:16199547 PMID:22510445 PMID:24357607 PMID:25741868 PMID:28492532 |
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NCBI chr 7:56,820,501...57,477,877
Ensembl chr 7:56,820,704...57,468,417
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G
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Frem2
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FRAS1 related extracellular matrix 2
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IAGP ISO
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ClinVar Annotator: match by term: FREM2-related condition | ClinVar Annotator: match by term: Fraser syndrome 2
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ClinVar OMIM RGD |
PMID:15838507 PMID:18203166 PMID:18671281 PMID:24115501 PMID:24700879 PMID:25741868 PMID:26275891 PMID:26489029 PMID:26552811 PMID:28492532 PMID:29618029 PMID:29688405 PMID:30143558 PMID:30773290 PMID:30802441 PMID:30838450 PMID:34837691 PMID:36360262 PMID:21756877 PMID:23336369 More...
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RGD:13464328, RGD:126781714 |
NCBI chr 2:139,753,055...139,891,046
Ensembl chr 2:139,753,055...139,891,046
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G
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Frem2fpl
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Fras1 related extracellular matrix protein 2;fpl mutant
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IAGP
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RGD |
PMID:21756877 PMID:23336369 |
RGD:13464328, RGD:126781714 |
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G
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Adamts14
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ADAM metallopeptidase with thrombospondin type 1 motif, 14
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ISO
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ClinVar Annotator: match by term: Fraser syndrome 3
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ClinVar |
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NCBI chr20:29,685,876...29,762,685
Ensembl chr20:29,685,876...29,762,682
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G
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Aipl1
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aryl hydrocarbon receptor-interacting protein-like 1
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ISO
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ClinVar Annotator: match by term: Fraser syndrome 3
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ClinVar |
PMID:28492532 |
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NCBI chr10:57,154,226...57,163,455
Ensembl chr10:57,154,226...57,163,455
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G
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Aspa
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aspartoacylase
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ISO
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ClinVar Annotator: match by term: Fraser syndrome 3
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ClinVar |
PMID:28492532 |
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NCBI chr10:58,390,204...58,443,790
Ensembl chr10:58,379,410...58,443,769
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G
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Bclaf1
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BCL2-associated transcription factor 1
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ISO
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ClinVar Annotator: match by term: Fraser syndrome 3
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ClinVar |
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NCBI chr 1:16,904,572...16,937,106
Ensembl chr 1:16,914,118...16,936,801
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G
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Borcs6
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BLOC-1 related complex subunit 6
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ISO
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ClinVar Annotator: match by term: Fraser syndrome 3
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ClinVar |
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NCBI chr10:54,259,349...54,261,203
Ensembl chr10:54,256,949...54,261,387
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G
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Gnb5
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G protein subunit beta 5
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ISO
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ClinVar Annotator: match by term: Fraser syndrome 3
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ClinVar |
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NCBI chr 8:84,956,629...84,985,576
Ensembl chr 8:84,953,815...84,986,888
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G
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Grip1
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glutamate receptor interacting protein 1
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ISO
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ClinVar Annotator: match by term: Fraser syndrome 3
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OMIM ClinVar |
PMID:16199547 PMID:21383172 PMID:22510445 PMID:24033266 PMID:24357607 PMID:25741868 PMID:26539891 PMID:28492532 PMID:36474027 More...
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NCBI chr 7:56,820,501...57,477,877
Ensembl chr 7:56,820,704...57,468,417
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G
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Lsm10
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LSM10, U7 small nuclear RNA associated
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ISO
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ClinVar Annotator: match by term: Fraser syndrome 3
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ClinVar |
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NCBI chr 5:143,649,817...143,660,391
Ensembl chr 5:143,615,360...143,663,986
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G
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Med23
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mediator complex subunit 23
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ISO
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ClinVar Annotator: match by term: Fraser syndrome 3
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ClinVar |
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NCBI chr 1:22,309,613...22,377,745
Ensembl chr 1:22,309,613...22,356,754
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G
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Mpc1
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mitochondrial pyruvate carrier 1
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ISO
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ClinVar Annotator: match by term: Fraser syndrome 3
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ClinVar |
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NCBI chr 1:54,985,305...54,996,979
Ensembl chr 1:54,985,301...54,997,064
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G
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Myo18b
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myosin XVIIIb
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ISO
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ClinVar Annotator: match by term: Fraser syndrome 3
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ClinVar |
PMID:28492532 |
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NCBI chr12:49,421,062...49,614,127
Ensembl chr12:49,407,451...49,614,126
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G
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Odad1
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outer dynein arm docking complex subunit 1
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ISO
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ClinVar Annotator: match by term: Fraser syndrome 3
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:105,530,196...105,557,358
Ensembl chr 1:105,531,085...105,558,023
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G
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Ptch1
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patched 1
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ISO
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ClinVar Annotator: match by term: Fraser syndrome 3
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,548,449...1,613,461
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G
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Spata22
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spermatogenesis associated 22
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ISO
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ClinVar Annotator: match by term: Fraser syndrome 3
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ClinVar |
PMID:28492532 |
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NCBI chr10:58,443,736...58,461,578
Ensembl chr10:58,417,415...58,461,908
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G
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Tlcd3a
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TLC domain containing 3A
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ISO
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ClinVar Annotator: match by term: Fraser syndrome 3
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ClinVar |
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NCBI chr10:61,556,193...61,563,529
Ensembl chr10:61,556,199...61,563,527
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G
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Wdr81
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WD repeat domain 81
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ISO
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ClinVar Annotator: match by term: Fraser syndrome 3
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ClinVar |
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NCBI chr10:60,780,268...60,793,671
Ensembl chr10:60,780,268...60,793,592
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G
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Zxda
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zinc finger, X-linked, duplicated A
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ISO
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ClinVar Annotator: match by term: Fraser syndrome 3
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ClinVar |
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NCBI chr X:63,770,485...63,775,624
Ensembl chr X:63,771,823...63,775,713
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G
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Myh3
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myosin heavy chain 3
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Craniocarpotarsal dysplasia | ClinVar Annotator: match by term: Freeman-Sheldon syndrome | ClinVar Annotator: match by term: WHISTLING FACE-WINDMILL VANE HAND SYNDROME
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CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:16642020 PMID:17576681 PMID:18414213 PMID:18695058 PMID:19142688 PMID:20924721 PMID:25256237 PMID:25740846 PMID:25741868 PMID:26945064 PMID:26996280 PMID:28492532 PMID:28584669 PMID:28779239 PMID:29805041 PMID:30008475 PMID:30379605 PMID:30826400 PMID:31030430 PMID:32732226 PMID:34136434 PMID:35169139 More...
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NCBI chr10:52,269,185...52,293,000
Ensembl chr10:52,269,185...52,293,000
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G
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Alx3
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ALX homeobox 3
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ISO
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ClinVar Annotator: match by term: ALX3-related condition
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OMIM ClinVar |
PMID:28492532 |
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NCBI chr 2:197,919,381...197,929,795
Ensembl chr 2:197,919,381...197,929,795
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G
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Alx4
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ALX homeobox 4
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ISO
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OMIM |
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NCBI chr 3:100,067,052...100,103,624
Ensembl chr 3:100,067,052...100,103,624
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G
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Alg9
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ALG9, alpha-1,2-mannosyltransferase
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ISO
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ClinVar Annotator: match by term: ALG9-associated autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: Gillessen-Kaesbach-Nishimura syndrome CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:15945070 PMID:16199547 PMID:25741868 PMID:25966638 PMID:26467025 PMID:27391121 PMID:28492532 PMID:31395617 More...
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NCBI chr 8:60,013,429...60,085,159
Ensembl chr 8:60,009,618...60,085,054
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G
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Chaf1a
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chromatin assembly factor 1 subunit A
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ISO
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ClinVar Annotator: match by term: Craniofacial microsomia
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ClinVar |
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NCBI chr 9:961,225...987,825
Ensembl chr 9:961,084...987,868
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G
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Foxi3
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forkhead box I3
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ISS ISO
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OMIM:164210 ClinVar Annotator: match by term: Craniofacial microsomia | ClinVar Annotator: match by term: Craniofacial microsomia 1
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MouseDO ClinVar |
PMID:28492532 PMID:36260083 PMID:37041148 |
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NCBI chr 4:104,491,834...104,496,008
Ensembl chr 4:104,491,759...104,496,008
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G
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Frk
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fyn-related Src family tyrosine kinase
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ISO
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ClinVar Annotator: match by term: Craniofacial microsomia 1
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ClinVar |
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NCBI chr20:39,820,441...39,926,065
Ensembl chr20:39,820,295...39,926,362
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G
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Pax1
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paired box 1
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ISO
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ClinVar Annotator: match by term: Craniofacial microsomia
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ClinVar |
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NCBI chr 3:155,244,961...155,254,836
Ensembl chr 3:155,245,529...155,254,836
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G
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Sf3b2
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splicing factor 3b, subunit 2
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ISO
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ClinVar Annotator: match by term: Craniofacial microsomia 1 CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:7811205 PMID:25741868 PMID:34344887 |
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NCBI chr 1:211,999,777...212,040,686
Ensembl chr 1:211,999,778...212,020,113
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G
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Zic3
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Zic family member 3
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ISS
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OMIM:164210
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MouseDO |
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NCBI chr X:141,159,623...141,165,587
Ensembl chr X:141,149,594...141,170,464
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G
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Zyg11b
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zyg-11 family member B, cell cycle regulator
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ISO
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ClinVar Annotator: match by term: Craniofacial microsomia 1
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ClinVar |
PMID:25741868 PMID:32738032 |
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NCBI chr 5:122,985,548...123,042,735
Ensembl chr 5:128,214,293...128,271,446
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G
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Dap3
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death associated protein 3
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ISO
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ClinVar Annotator: match by term: Grange syndrome | ClinVar Annotator: match by term: YY1AP1-related condition
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:176,617,151...176,645,293
Ensembl chr 2:176,617,155...176,644,270
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G
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Cdk13
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cyclin-dependent kinase 13
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ISO
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ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome
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ClinVar |
PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 PMID:28492532 PMID:29236091 More...
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NCBI chr17:51,945,975...52,040,218
Ensembl chr17:51,946,701...52,037,257
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G
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Gli3
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GLI family zinc finger 3
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ISO ISS
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ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome | ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome, severe | ClinVar Annotator: match by term: Polysyndactyly with peculiar skull shape OMIM:175700 DNA:mutations:exon, intron:multiple DNA:nonsense mutations, missense mutations, splice-site mutations:exon, intron:multiple DNA:mutations: :multiple CTD Direct Evidence: marker/mechanism
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OMIM ClinVar MouseDO CTD RGD |
PMID:1879832 PMID:6641002 PMID:9302279 PMID:9536098 PMID:10441342 PMID:10441570 PMID:10678662 PMID:12414818 PMID:12794692 PMID:14608643 PMID:15739154 PMID:15811011 PMID:16199547 PMID:16740916 PMID:17576681 PMID:18000979 PMID:18154020 PMID:18241058 PMID:20583172 PMID:20672375 PMID:21270786 PMID:22903559 PMID:24736735 PMID:25606469 PMID:25640679 PMID:25741868 PMID:26508445 PMID:27231705 PMID:27981572 PMID:28127823 PMID:28224613 PMID:28492532 PMID:29236091 PMID:30235038 PMID:30773290 PMID:30848202 PMID:30993914 PMID:31399769 PMID:32591344 PMID:33304378 PMID:34482537 PMID:34906502 PMID:15739154 PMID:10441342 PMID:24736735 PMID:22903559 More...
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RGD:12738222, RGD:12738208, RGD:12738205, RGD:12738141 |
NCBI chr17:54,134,064...54,405,198
Ensembl chr17:54,134,064...54,405,198
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G
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Inhba
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inhibin subunit beta A
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ISO
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ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome
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ClinVar |
PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 PMID:28492532 PMID:29236091 More...
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NCBI chr17:53,787,159...53,810,942
Ensembl chr17:53,791,444...53,804,508
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G
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Mplkip
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M-phase specific PLK1 interacting protein
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ISO
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ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome
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ClinVar |
PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 PMID:28492532 PMID:29236091 More...
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NCBI chr17:52,069,154...52,071,978
Ensembl chr17:52,069,154...52,071,720
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G
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Rala
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RAS like proto-oncogene A
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ISO
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ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome
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ClinVar |
PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 PMID:28492532 PMID:29236091 More...
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NCBI chr17:51,787,682...51,840,738
Ensembl chr17:51,787,699...51,840,733
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G
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Sugct
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succinylCoA:glutarate-CoA transferase
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ISO
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ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome
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ClinVar |
PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 PMID:28492532 PMID:29236091 More...
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NCBI chr17:52,072,012...52,929,852
Ensembl chr17:52,072,052...52,930,281
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G
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Rspo2
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R-spondin 2
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ISO
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ClinVar Annotator: match by term: Humerofemoral hypoplasia with radiotibial ray deficiency | ClinVar Annotator: match by term: RSPO2-related condition
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OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29769720 |
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NCBI chr 7:75,987,217...76,123,984
Ensembl chr 7:75,987,817...76,123,654
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G
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Pde3a
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phosphodiesterase 3A
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ISO
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ClinVar Annotator: match by term: BILGINTURAN SYNDROME | ClinVar Annotator: match by term: Bilginturan syndrome | ClinVar Annotator: match by term: PDE3A-related condition CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:4774535 PMID:25741868 PMID:25961942 PMID:28492532 PMID:29758562 PMID:31549136 PMID:32631253 More...
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NCBI chr 4:175,904,276...176,170,531
Ensembl chr 4:175,904,077...176,169,270
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G
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Tbx4
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T-box transcription factor 4
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ISO
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ClinVar Annotator: match by term: Coxopodopatellar syndrome | ClinVar Annotator: match by term: TBX4-related condition CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:11303519 PMID:15106123 PMID:16199547 PMID:23592887 PMID:24033266 PMID:25741868 PMID:27587546 PMID:28492532 PMID:29120062 PMID:29631995 PMID:29650961 PMID:30029678 PMID:30578397 PMID:31151956 PMID:31727138 PMID:31761294 PMID:31965066 PMID:32079640 PMID:32348326 PMID:32581362 PMID:32860008 PMID:35852389 PMID:36085161 More...
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NCBI chr10:71,228,145...71,258,222
Ensembl chr10:71,197,727...71,258,218
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G
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Fgfr1
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Fibroblast growth factor receptor 1
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ISO
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ClinVar Annotator: match by term: CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIES | ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndrome CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:1456217 PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 PMID:11173846 PMID:12627230 PMID:14513299 PMID:14564217 PMID:14613973 PMID:15793702 PMID:16199547 PMID:16764984 PMID:16957473 PMID:17003104 PMID:17154279 PMID:17530415 PMID:18034870 PMID:23643382 PMID:23812909 PMID:24127277 PMID:24497711 PMID:25251565 PMID:25741868 PMID:26942290 PMID:27363716 PMID:28492532 PMID:31200363 PMID:31605817 PMID:31837199 PMID:32724172 PMID:37805574 More...
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NCBI chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855
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G
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Fgfr2
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fibroblast growth factor receptor 2
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ISO
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ClinVar Annotator: match by term: CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIES | ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndrome CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.R344G (human)
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OMIM ClinVar CTD RGD |
PMID:7581378 PMID:7655462 PMID:7668257 PMID:7719329 PMID:7719344 PMID:7719345 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8528214 PMID:8644708 PMID:8651276 PMID:8696350 PMID:8957519 PMID:9002682 PMID:9385368 PMID:9462761 PMID:9586546 PMID:9677057 PMID:9700203 PMID:9719378 PMID:10541159 PMID:10633130 PMID:11121055 PMID:11390973 PMID:11556600 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12884424 PMID:12884434 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15389579 PMID:15975938 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16531735 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17525745 PMID:19066959 PMID:20301628 PMID:20489451 PMID:20856019 PMID:21397175 PMID:22664175 PMID:22665975 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23787031 PMID:24016645 PMID:24127277 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25271085 PMID:25706251 PMID:25741868 PMID:25759925 PMID:25867380 PMID:25937001 PMID:26362256 PMID:26380986 PMID:26467025 PMID:27079505 PMID:27323706 PMID:27481450 PMID:28492532 PMID:29848297 PMID:31145570 PMID:32879300 PMID:36474027 PMID:7874170 More...
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RGD:12801470 |
NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914
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G
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Cplane1
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ciliogenesis and planar polarity effector complex subunit 1
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ISO
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ClinVar Annotator: match by term: OFDS VI | ClinVar Annotator: match by term: Oral-facial-digital syndrome type 6 | ClinVar Annotator: match by term: Orofaciodigital syndrome VI | ClinVar Annotator: match by term: POLYDACTYLY, CLEFT LIP/PALATE OR LINGUAL LUMP, AND PSYCHOMOTOR RETARDATION | ClinVar Annotator: match by term: VARADI SYNDROME | ClinVar Annotator: match by term: Varadi-Papp syndrome CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:9536098 PMID:10488899 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20301500 PMID:21679365 PMID:22236771 PMID:22425360 PMID:22693042 PMID:23523602 PMID:24033266 PMID:24091540 PMID:24178751 PMID:25407461 PMID:25533962 PMID:25558065 PMID:25741868 PMID:25846457 PMID:25877302 PMID:25920555 PMID:26092869 PMID:26477546 PMID:27081551 PMID:27158779 PMID:27434533 PMID:28087721 PMID:28125082 PMID:28289185 PMID:28431631 PMID:28454995 PMID:28492532 PMID:28518168 PMID:28771248 PMID:28976722 PMID:29146704 PMID:29321670 PMID:29605658 PMID:29955609 PMID:30408610 PMID:30919572 PMID:31130284 PMID:31158925 PMID:31216405 PMID:31980526 PMID:32037395 PMID:32233090 PMID:32461654 PMID:33176815 PMID:33774617 PMID:34008892 PMID:34091942 PMID:35582950 PMID:36305856 PMID:36413997 PMID:36580738 PMID:38003592 More...
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NCBI chr 2:58,996,119...59,096,817
Ensembl chr 2:58,996,130...59,096,817
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G
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Esco2
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establishment of sister chromatid cohesion N-acetyltransferase 2
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ISO
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ClinVar Annotator: match by term: Cleft lip/palate with abnormal thumbs and microcephaly | ClinVar Annotator: match by term: Juberg-Hayward syndrome | ClinVar Annotator: match by term: Orocraniodigital syndrome
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OMIM ClinVar |
PMID:1642282 PMID:15821733 PMID:16380922 PMID:18411254 PMID:18414213 PMID:20301332 PMID:25741868 PMID:28492532 PMID:30508616 PMID:32255174 PMID:32977150 More...
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NCBI chr15:44,210,124...44,230,785
Ensembl chr15:44,210,641...44,231,304 Ensembl chr15:44,210,641...44,231,304
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G
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Flna
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filamin A
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ISO
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ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar Annotator: match by term: Cleft lip/palate with abnormal thumbs and microcephaly | ClinVar Annotator: match by term: Cranio-oro-digital syndrome
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ClinVar |
PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 PMID:11532987 PMID:11704759 PMID:11992261 PMID:12410386 PMID:12612583 PMID:15194946 PMID:15523633 PMID:15689435 PMID:15917206 PMID:16080119 PMID:16299064 PMID:16417552 PMID:16538226 PMID:16596676 PMID:16684786 PMID:16822260 PMID:16835913 PMID:16875750 PMID:17264970 PMID:17431908 PMID:17576681 PMID:17632775 PMID:18414213 PMID:18805826 PMID:19377476 PMID:19773341 PMID:20301567 PMID:20598277 PMID:20730588 PMID:20844545 PMID:20979190 PMID:21620354 PMID:21836662 PMID:21960593 PMID:22465605 PMID:22522697 PMID:25167861 PMID:25326637 PMID:25649377 PMID:25741868 PMID:26467025 PMID:26471271 PMID:27193221 PMID:27724990 PMID:28133863 PMID:28454995 PMID:28492532 PMID:28659821 PMID:28798025 PMID:29168297 PMID:29720203 PMID:30029678 PMID:30089473 PMID:30143558 PMID:30293987 PMID:30476936 PMID:30675029 PMID:30712057 PMID:30755392 PMID:30986657 PMID:31064749 PMID:31069529 PMID:31625567 PMID:31942422 PMID:32410215 PMID:32738303 PMID:33077954 PMID:33448881 PMID:34858435 PMID:36110220 PMID:36734119 PMID:37175682 More...
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NCBI chr X:157,159,051...157,185,559
Ensembl chr X:157,159,051...157,182,343
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G
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Gdf6
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growth differentiation factor 6
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CERVICAL VERTEBRAL FUSION, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Klippel-Feil syndrome
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CTD ClinVar |
PMID:18425797 PMID:19129173 PMID:23307924 PMID:23620759 PMID:24033266 PMID:25457163 PMID:25741868 PMID:28492532 PMID:30755392 PMID:32483926 PMID:32737436 PMID:38025229 More...
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NCBI chr 5:27,793,561...27,809,884
Ensembl chr 5:27,793,552...27,811,825
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G
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Meox1
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mesenchyme homeobox 1
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
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NCBI chr10:87,318,668...87,338,169
Ensembl chr10:87,318,695...87,337,976
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G
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Myo18b
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myosin XVIIIb
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome
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ClinVar |
PMID:25741868 |
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NCBI chr12:49,421,062...49,614,127
Ensembl chr12:49,407,451...49,614,126
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G
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Cfap418
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cilia and flagella associated protein 418
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant
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ClinVar |
PMID:24442880 PMID:28492532 |
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NCBI chr 5:28,789,580...28,812,891
Ensembl chr 5:28,792,692...28,812,887
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G
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Gdf6
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growth differentiation factor 6
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant
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OMIM ClinVar |
PMID:9129173 PMID:18425797 PMID:19129173 PMID:19864492 PMID:20057906 PMID:20494911 PMID:21070663 PMID:22204637 PMID:23307924 PMID:23620759 PMID:24033266 PMID:24442880 PMID:25457163 PMID:25741868 PMID:25741869 PMID:28492532 PMID:30755392 PMID:32483926 PMID:32737436 PMID:38025229 More...
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NCBI chr 5:27,793,561...27,809,884
Ensembl chr 5:27,793,552...27,811,825
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G
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Lrrk2
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leucine-rich repeat kinase 2
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant
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ClinVar |
PMID:18412265 PMID:18688798 PMID:18716801 PMID:18781329 PMID:19699188 PMID:20301387 PMID:20642453 PMID:21885347 PMID:25243190 PMID:25741868 PMID:26930193 PMID:28492532 More...
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NCBI chr 7:124,706,246...124,867,234
Ensembl chr 7:124,706,080...124,867,239
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G
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Mterf3
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mitochondrial transcription termination factor 3
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant
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ClinVar |
PMID:24442880 PMID:28492532 |
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NCBI chr 7:65,711,654...65,729,926
Ensembl chr 7:65,711,662...65,729,895
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G
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Ndufaf6
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NADH:ubiquinone oxidoreductase complex assembly factor 6
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant
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ClinVar |
PMID:24442880 PMID:28492532 |
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NCBI chr 5:24,147,712...24,171,981
Ensembl chr 5:28,945,014...28,969,667
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G
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Plekhf2
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pleckstrin homology and FYVE domain containing 2
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant
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ClinVar |
PMID:24442880 PMID:28492532 |
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NCBI chr 5:28,888,358...28,905,350
Ensembl chr 5:28,868,469...28,923,514
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G
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Ptdss1
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phosphatidylserine synthase 1
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant
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ClinVar |
PMID:24442880 PMID:28492532 |
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NCBI chr 7:65,730,250...65,792,024
Ensembl chr 7:65,729,629...65,794,359
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G
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Uqcrb
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ubiquinol-cytochrome c reductase binding protein
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant
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ClinVar |
PMID:24442880 PMID:28492532 |
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NCBI chr 7:65,700,016...65,705,382
Ensembl chr 7:65,700,029...65,705,558
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G
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Meox1
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mesenchyme homeobox 1
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 2, autosomal recessive | ClinVar Annotator: match by term: MEOX1-related condition
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OMIM ClinVar |
PMID:23290072 PMID:24073994 PMID:25741868 PMID:28492532 |
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NCBI chr10:87,318,668...87,338,169
Ensembl chr10:87,318,695...87,337,976
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G
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Ripply2
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ripply transcriptional repressor 2
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 2, autosomal recessive
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ClinVar |
PMID:25343988 PMID:26238661 |
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NCBI chr 8:96,854,393...96,858,963
Ensembl chr 8:96,854,508...96,858,963
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G
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Acsm4
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acyl-CoA synthetase medium-chain family member 4
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
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ClinVar |
PMID:28492532 |
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NCBI chr 1:183,485,259...183,509,712
Ensembl chr 1:183,485,259...183,509,712
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G
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Aicda
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activation-induced cytidine deaminase
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
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ClinVar |
PMID:28492532 |
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NCBI chr 4:157,446,120...157,455,958
Ensembl chr 4:157,444,697...157,456,356
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G
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Apobec1
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apolipoprotein B mRNA editing enzyme catalytic subunit 1
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
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ClinVar |
PMID:28492532 |
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NCBI chr 4:157,472,879...157,500,496
Ensembl chr 4:157,472,868...157,498,909
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G
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Atn1
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atrophin 1
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
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ClinVar |
PMID:28492532 |
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NCBI chr 4:159,240,573...159,254,378
Ensembl chr 4:159,237,562...159,254,418
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G
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C1r
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complement C1r
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
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ClinVar |
PMID:28492532 |
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NCBI chr 4:159,099,013...159,109,770
Ensembl chr 4:159,098,918...159,109,714
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G
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C1rl
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complement C1r subcomponent like
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
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ClinVar |
PMID:28492532 |
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NCBI chr 4:159,080,495...159,097,066
Ensembl chr 4:159,080,495...159,097,066
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G
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C1s
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complement C1s
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
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ClinVar |
PMID:28492532 |
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NCBI chr 4:159,116,549...159,128,736
Ensembl chr 4:159,116,549...159,128,736
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G
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C3ar1
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complement C3a receptor 1
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
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ClinVar |
PMID:28492532 |
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NCBI chr 4:157,747,419...157,756,609
Ensembl chr 4:157,746,089...157,776,323
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G
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Cd163
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CD163 molecule
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
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ClinVar |
PMID:28492532 |
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NCBI chr 4:158,770,751...158,804,146
Ensembl chr 4:158,770,749...158,804,146
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G
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Cdca3
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cell division cycle associated 3
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
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ClinVar |
PMID:28492532 |
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NCBI chr 4:159,321,203...159,325,072
Ensembl chr 4:159,321,014...159,325,068
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G
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Clec4a1
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C-type lectin domain family 4, member A1
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
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ClinVar |
PMID:28492532 |
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NCBI chr 4:157,845,811...157,857,926
Ensembl chr 4:157,845,752...157,858,273
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G
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Clec4a3
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C-type lectin domain family 4, member A3
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
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ClinVar |
PMID:28492532 |
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NCBI chr 4:157,885,899...157,896,728
Ensembl chr 4:157,885,895...157,896,727
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G
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Clec4b2
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C-type lectin domain family 4, member B2
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
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ClinVar |
PMID:28492532 |
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NCBI chr 4:158,148,434...158,171,933
Ensembl chr 4:158,148,314...158,172,249
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G
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Clec4d
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C-type lectin domain family 4, member D
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
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ClinVar |
PMID:28492532 |
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NCBI chr 4:158,275,287...158,286,978
Ensembl chr 4:158,275,341...158,287,055
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G
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Clec4e
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C-type lectin domain family 4, member E
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
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ClinVar |
PMID:28492532 |
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NCBI chr 4:158,292,624...158,298,607
Ensembl chr 4:158,293,311...158,298,467
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G
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Clec6a-ps1
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C-type lectin domain family 6, member A, pseudogene 1
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
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ClinVar |
PMID:28492532 |
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NCBI chr 4:158,225,100...158,244,722
Ensembl chr 4:158,225,099...158,244,295
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G
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Clstn3
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calsyntenin 3
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
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ClinVar |
PMID:28492532 |
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NCBI chr 4:159,017,795...159,051,069
Ensembl chr 4:159,017,795...159,051,069
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G
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Dppa3
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developmental pluripotency-associated 3
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
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ClinVar |
PMID:28492532 |
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NCBI chr 4:157,523,426...157,526,810
Ensembl chr 5:93,143,318...93,144,472 Ensembl chr 4:93,143,318...93,144,472
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G
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Emg1
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EMG1 N1-specific pseudouridine methyltransferase
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
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ClinVar |
PMID:28492532 |
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NCBI chr 4:159,195,545...159,203,826
Ensembl chr 4:159,195,564...159,203,826
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G
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Eno2
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enolase 2
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
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ClinVar |
PMID:28492532 |
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NCBI chr 4:159,258,371...159,267,220
Ensembl chr 4:159,258,371...159,267,220
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G
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Fam90a1a
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family with sequence similarity 90 member A1A
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
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ClinVar |
PMID:28492532 |
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NCBI chr16:76,801,218...76,808,469
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G
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Foxj2
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forkhead box J2
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
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ClinVar |
PMID:28492532 |
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NCBI chr 4:157,718,990...157,745,468
Ensembl chr 4:157,718,992...157,745,450
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G
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Gdf3
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growth differentiation factor 3
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
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OMIM ClinVar |
PMID:19864492 PMID:25741868 PMID:28492532 PMID:29735971 |
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NCBI chr 4:157,503,547...157,507,923
Ensembl chr 4:157,502,884...157,507,907
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G
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Gnb3
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G protein subunit beta 3
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
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ClinVar |
PMID:28492532 |
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NCBI chr 4:159,325,741...159,331,443
Ensembl chr 4:159,325,742...159,331,445
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G
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Grcc10
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gene rich cluster, C10 gene
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
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ClinVar |
PMID:28492532 |
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NCBI chr 4:159,237,562...159,239,223
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G
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Lpcat3
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lysophosphatidylcholine acyltransferase 3
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
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ClinVar |
PMID:28492532 |
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NCBI chr 4:159,154,690...159,196,176
Ensembl chr 4:159,154,158...159,196,358
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G
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Lrrc23
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leucine rich repeat containing 23
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
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ClinVar |
PMID:28492532 |
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NCBI chr 4:159,267,572...159,277,764
Ensembl chr 4:159,267,574...159,277,794
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G
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Mfap5
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microfibril associated protein 5
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
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ClinVar |
PMID:28492532 |
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NCBI chr 4:157,399,919...157,422,448
Ensembl chr 4:157,395,597...157,422,448
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G
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Mir141
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microRNA 141
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
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ClinVar |
PMID:28492532 |
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NCBI chr 4:159,209,525...159,209,618
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G
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Mir200c
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microRNA 200c
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
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ClinVar |
PMID:28492532 |
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NCBI chr 4:159,209,965...159,210,033
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G
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Nanog
|
Nanog homeobox
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
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ClinVar |
PMID:28492532 |
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NCBI chr 4:157,615,687...157,623,061
Ensembl chr 4:157,615,687...157,623,061
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G
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Necap1
|
NECAP endocytosis associated 1
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
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ClinVar |
PMID:28492532 |
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NCBI chr 4:157,775,890...157,790,992
Ensembl chr 4:157,775,896...157,790,984
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G
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P3h3
|
prolyl 3-hydroxylase 3
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
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ClinVar |
PMID:28492532 |
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NCBI chr 4:159,332,514...159,348,428
Ensembl chr 4:159,332,434...159,348,004
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G
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Pex5
|
peroxisomal biogenesis factor 5
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
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ClinVar |
PMID:28492532 |
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NCBI chr 4:158,956,973...158,983,581
Ensembl chr 4:158,956,974...158,982,733
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G
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Phb2
|
prohibitin 2
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
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ClinVar |
PMID:28492532 |
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NCBI chr 4:159,203,948...159,208,561
Ensembl chr 4:159,203,926...159,209,231
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G
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Ptpn6
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protein tyrosine phosphatase, non-receptor type 6
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
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ClinVar |
PMID:28492532 |
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NCBI chr 4:159,212,320...159,237,069
Ensembl chr 4:159,212,320...159,237,069
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G
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Rimklb
|
ribosomal modification protein rimK-like family member B
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
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ClinVar |
PMID:28492532 |
|
NCBI chr 4:157,336,950...157,396,970
Ensembl chr 4:157,344,414...157,378,727
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G
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Slc2a3
|
solute carrier family 2 member 3
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
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ClinVar |
PMID:28492532 |
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NCBI chr 4:157,632,887...157,698,034
Ensembl chr 4:157,632,887...157,646,186
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G
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Spsb2
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splA/ryanodine receptor domain and SOCS box containing 2
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ISO
|
ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
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ClinVar |
PMID:28492532 |
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NCBI chr 4:159,298,362...159,301,568
Ensembl chr 4:159,299,159...159,309,021
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G
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Tpi1
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triosephosphate isomerase 1
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
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ClinVar |
PMID:28492532 |
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NCBI chr 4:159,301,558...159,305,088
Ensembl chr 4:159,301,562...159,305,413
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G
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Usp5
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ubiquitin specific peptidase 5
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant
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ClinVar |
PMID:28492532 |
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NCBI chr 4:159,305,927...159,321,345
Ensembl chr 4:159,305,938...159,320,956
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G
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Myo18b
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myosin XVIIIb
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ISO
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ClinVar Annotator: match by term: Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism | ClinVar Annotator: match by term: Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism | ClinVar Annotator: match by term: MYO18B-related condition
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OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:25748484 PMID:26752647 PMID:27858739 PMID:28492532 PMID:31195167 PMID:31230720 PMID:32184166 PMID:32637634 PMID:33179433 More...
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NCBI chr12:49,421,062...49,614,127
Ensembl chr12:49,407,451...49,614,126
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G
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Fgf10
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fibroblast growth factor 10
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ISS
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OMIM:149730
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MouseDO |
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NCBI chr 2:52,533,939...52,610,980
Ensembl chr 2:52,533,939...52,610,980
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G
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Fgfr2
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fibroblast growth factor receptor 2
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ISO
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ClinVar Annotator: match by term: LADD syndrome 1 | ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 1
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OMIM ClinVar |
PMID:7719344 PMID:8651276 PMID:9002682 PMID:9462761 PMID:9719378 PMID:11121055 PMID:11390973 PMID:12124745 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15975938 PMID:16440883 PMID:17525745 PMID:20301628 PMID:22664175 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23787031 PMID:24016645 PMID:24489893 PMID:24728327 PMID:25741868 PMID:25867380 PMID:26380986 PMID:28492532 PMID:31145570 More...
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NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914
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G
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Fgfr3
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fibroblast growth factor receptor 3
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ISO
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ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 1
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ClinVar |
PMID:8078586 PMID:8723101 PMID:17033969 PMID:17256796 PMID:17320202 PMID:21739570 PMID:22045636 PMID:22339077 PMID:24864036 PMID:25614871 PMID:25691418 PMID:25741868 PMID:28492532 More...
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NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209
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G
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Fgfr3
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fibroblast growth factor receptor 3
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ISO
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ClinVar Annotator: match by term: LADD SYNDROME 2 | ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 2
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OMIM ClinVar |
PMID:1908846 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589686 PMID:8599935 PMID:8640234 PMID:8673103 PMID:8723106 PMID:8754806 PMID:8841188 PMID:8845844 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9300656 PMID:9438390 PMID:9452043 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9672519 PMID:9677066 PMID:9790257 PMID:9843059 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10360392 PMID:10361991 PMID:10395236 PMID:10607835 PMID:10696568 PMID:10777366 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11754059 PMID:12009017 PMID:12362036 PMID:12624096 PMID:12707965 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15843401 PMID:15915095 PMID:16501574 PMID:16752380 PMID:16766665 PMID:16841094 PMID:16912704 PMID:17033969 PMID:17256796 PMID:17320202 PMID:17552943 PMID:18000976 PMID:18198189 PMID:18266238 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19855393 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20420824 PMID:20453470 PMID:20624921 PMID:20704477 PMID:21273588 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22622662 PMID:23056398 PMID:23149434 PMID:23165795 PMID:23972473 PMID:24075385 PMID:24120763 PMID:24715719 PMID:24728327 PMID:24863959 PMID:24864036 PMID:25271085 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25741868 PMID:26380986 PMID:26740388 PMID:28230213 PMID:28483234 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29620724 PMID:29681095 PMID:29758562 PMID:30138938 PMID:30692697 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32360156 PMID:32502767 PMID:32715658 PMID:33942288 PMID:34930662 PMID:35726512 PMID:36135330 PMID:36474027 More...
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NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209
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G
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Fgf10
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fibroblast growth factor 10
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ISO
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ClinVar Annotator: match by term: LADD syndrome 3 | ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 3
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OMIM ClinVar |
PMID:15654336 PMID:16501574 PMID:16630169 PMID:25741868 PMID:28492532 PMID:37077496 More...
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NCBI chr 2:52,533,939...52,610,980
Ensembl chr 2:52,533,939...52,610,980
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G
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Fgf10
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fibroblast growth factor 10
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ISO
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ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome
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ClinVar |
PMID:16630169 PMID:17213838 PMID:25741868 PMID:26955834 PMID:28492532 |
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NCBI chr 2:52,533,939...52,610,980
Ensembl chr 2:52,533,939...52,610,980
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G
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Fgfr2
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fibroblast growth factor receptor 2
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome
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CTD ClinVar |
PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8651276 PMID:8696350 PMID:8957519 PMID:9002682 PMID:9462761 PMID:9677057 PMID:9700203 PMID:9719378 PMID:11121055 PMID:11390973 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15389579 PMID:15975938 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16501574 PMID:16531735 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17525745 PMID:18056630 PMID:18414213 PMID:20301628 PMID:20489451 PMID:20856019 PMID:21397175 PMID:22664175 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23787031 PMID:24016645 PMID:24127277 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25706251 PMID:25741868 PMID:25867380 PMID:25937001 PMID:26380986 PMID:26467025 PMID:27079505 PMID:27323706 PMID:28492532 PMID:29848297 PMID:31145570 PMID:31502745 PMID:32879300 PMID:36474027 PMID:39825153 More...
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NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914
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G
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Fgfr3
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fibroblast growth factor receptor 3
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ISO
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ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome
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ClinVar |
PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589686 PMID:8589699 PMID:8640234 PMID:8673103 PMID:8858131 PMID:9207791 PMID:9438390 PMID:9452043 PMID:9672519 PMID:9677066 PMID:9857065 PMID:10053006 PMID:10073901 PMID:10360392 PMID:10361991 PMID:10395236 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10777366 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11529856 PMID:11754059 PMID:11879084 PMID:12707965 PMID:12833394 PMID:15517832 PMID:15772091 PMID:16501574 PMID:16766665 PMID:16841094 PMID:16912704 PMID:17033969 PMID:17256796 PMID:17320202 PMID:17384684 PMID:17509076 PMID:17875876 PMID:18000976 PMID:18076102 PMID:18198189 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19749790 PMID:20301331 PMID:20301540 PMID:20420824 PMID:20453470 PMID:20624921 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22045636 PMID:23056398 PMID:23149434 PMID:23165795 PMID:24120763 PMID:24715719 PMID:24864036 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25809207 PMID:26380986 PMID:26740388 PMID:26818779 PMID:28230213 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29620724 PMID:29681095 PMID:29758562 PMID:30138938 PMID:30635042 PMID:30692697 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32360156 PMID:32502767 PMID:32715658 PMID:33942288 PMID:35726512 PMID:36135330 PMID:36474027 More...
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NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209
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G
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Lmbr1
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limb development membrane protein 1
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Laurin-Sandrow syndrome
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OMIM CTD ClinVar |
PMID:16059937 PMID:24456159 |
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NCBI chr 4:6,649,824...6,820,525
Ensembl chr 4:6,649,821...6,822,238
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G
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Abca3
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ATP binding cassette subfamily A member 3
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ISO
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ClinVar Annotator: match by term: Loeys-Dietz syndrome
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ClinVar |
PMID:17517255 PMID:19647838 PMID:24871971 PMID:25741868 PMID:28492532 PMID:33110422 More...
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NCBI chr10:13,886,948...13,944,286
Ensembl chr10:13,887,083...13,944,285
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G
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Col3a1
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collagen type III alpha 1 chain
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ISO
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ClinVar Annotator: match by term: Loeys-Dietz syndrome
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ClinVar |
PMID:2049575 PMID:21086191 PMID:24033266 PMID:24055113 PMID:25637381 PMID:25741868 PMID:25758994 PMID:25846194 PMID:25985138 PMID:26467025 PMID:27011056 PMID:27964749 PMID:28492532 PMID:28748566 PMID:30374176 PMID:31903434 More...
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NCBI chr 9:54,866,646...54,902,578
Ensembl chr 9:54,866,632...54,903,232
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G
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Col5a1
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collagen type V alpha 1 chain
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ISO
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ClinVar Annotator: match by term: Loeys-Dietz syndrome
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:31,606,475...31,755,097
Ensembl chr 3:31,606,486...31,753,020
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G
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Col5a2
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collagen type V alpha 2 chain
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ISO
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ClinVar Annotator: match by term: Loeys-Dietz syndrome
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ClinVar |
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NCBI chr 9:54,940,768...55,090,151
Ensembl chr 9:54,940,764...55,090,150
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G
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Fbn1
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fibrillin 1
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ISO
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ClinVar Annotator: match by term: Loeys-Dietz syndrome
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ClinVar |
PMID:1729284 PMID:7611299 PMID:8880577 PMID:8882780 PMID:10766875 PMID:11175294 PMID:16596670 PMID:17324963 PMID:21784848 PMID:24199744 PMID:25741868 PMID:26796135 PMID:27914124 PMID:28492532 More...
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NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283
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G
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Fbn2
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fibrillin 2
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ISO
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ClinVar Annotator: match by term: Loeys-Dietz syndrome
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr18:53,696,197...53,901,992
Ensembl chr18:53,697,708...53,902,191
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G
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Myh11
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myosin heavy chain 11
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ISO
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ClinVar Annotator: match by term: Loeys-Dietz syndrome
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ClinVar |
PMID:22511748 PMID:24033266 PMID:25433566 PMID:25741868 PMID:26017485 PMID:26332594 PMID:27879251 PMID:28492532 PMID:29494672 PMID:29961567 More...
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NCBI chr10:1,250,554...1,345,681
Ensembl chr10:1,263,194...1,345,678
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G
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Mylk
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myosin light chain kinase
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ISO
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ClinVar Annotator: match by term: Loeys-Dietz syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr11:79,288,243...79,535,450
Ensembl chr11:79,288,243...79,535,659
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G
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Smad2
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SMAD family member 2
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ISO
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ClinVar Annotator: match by term: Loeys-Dietz syndrome
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ClinVar |
PMID:16199547 PMID:28492532 |
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NCBI chr18:72,124,792...72,193,345
Ensembl chr18:72,124,863...72,187,388
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G
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Smad3
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SMAD family member 3
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A
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CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21217753 PMID:21778426 PMID:22772368 PMID:24033266 PMID:24711937 PMID:24804794 PMID:25644172 PMID:25741868 PMID:28492532 PMID:29392890 PMID:30661052 PMID:30787465 PMID:31085000 PMID:31915033 PMID:32597575 More...
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NCBI chr 8:73,022,204...73,132,324
Ensembl chr 8:73,024,760...73,132,324
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G
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Tgfb2
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transforming growth factor, beta 2
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ISO ISS
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A
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CTD ClinVar MouseDO |
PMID:1644824 PMID:1843280 PMID:2094803 PMID:3476488 PMID:7737999 PMID:9536098 PMID:9599222 PMID:10611753 PMID:16199547 PMID:17576681 PMID:22772368 PMID:22772371 PMID:22863191 PMID:23102774 PMID:24465802 PMID:24577266 PMID:25046559 PMID:25644172 PMID:25741868 PMID:26017485 PMID:26854089 PMID:27782106 PMID:28139901 PMID:28492532 PMID:28550590 PMID:28633253 PMID:28655553 PMID:29392890 PMID:29510914 PMID:29543232 PMID:29907982 PMID:30071990 PMID:30739908 PMID:31191903 PMID:31785789 PMID:31915033 PMID:32277047 PMID:32307099 PMID:32897753 PMID:33125268 PMID:33418956 PMID:34363016 PMID:35205249 PMID:39534309 More...
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NCBI chr13:100,691,540...100,793,227
Ensembl chr13:100,692,953...100,792,856
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G
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Tgfb3
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transforming growth factor, beta 3
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome
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CTD ClinVar |
PMID:23824657 PMID:25741868 PMID:25835445 PMID:26188975 PMID:28492532 PMID:39653386 More...
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NCBI chr 6:111,435,170...111,457,646
Ensembl chr 6:111,435,170...111,456,946
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G
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Tgfbr1
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transforming growth factor, beta receptor 1
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ISO ISS
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A
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CTD ClinVar MouseDO |
PMID:2511639 PMID:2647812 PMID:9536098 PMID:10025408 PMID:15731757 PMID:16596670 PMID:16791849 PMID:16799921 PMID:16928994 PMID:17576681 PMID:17652900 PMID:18455604 PMID:18781618 PMID:19542084 PMID:19561605 PMID:19839986 PMID:20332227 PMID:20358619 PMID:21267002 PMID:21358634 PMID:22113417 PMID:22414221 PMID:22772368 PMID:23064905 PMID:23142374 PMID:23358096 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24793577 PMID:24931266 PMID:25110237 PMID:25116393 PMID:25326635 PMID:25326637 PMID:25504618 PMID:25521989 PMID:25589165 PMID:25637381 PMID:25715477 PMID:25741868 PMID:25834947 PMID:25907466 PMID:25944730 PMID:25985138 PMID:26848186 PMID:26877057 PMID:27037046 PMID:27125181 PMID:27146836 PMID:27153395 PMID:27611364 PMID:27647783 PMID:27879313 PMID:28152038 PMID:28209770 PMID:28387797 PMID:28492532 PMID:28550590 PMID:28655553 PMID:28659821 PMID:29192238 PMID:29510914 PMID:29706644 PMID:29907982 PMID:30059548 PMID:30219046 PMID:30701076 PMID:30739908 PMID:31279624 PMID:31624717 PMID:31915033 PMID:32339686 PMID:32867844 PMID:32897753 PMID:33059708 PMID:33256177 PMID:33436942 PMID:33824467 PMID:34422331 PMID:34498425 PMID:35092149 PMID:35830949 PMID:35903967 PMID:36103205 PMID:36237225 PMID:36580209 PMID:36584339 PMID:36937954 PMID:37042257 PMID:37937776 PMID:37998513 More...
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NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:66,449,293...66,527,260
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G
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Tgfbr2
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transforming growth factor, beta receptor 2
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ISO ISS
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Loeys-Dietz syndrome ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A
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CTD ClinVar MouseDO |
PMID:8246946 PMID:9395234 PMID:9536098 PMID:9590282 PMID:9771922 PMID:9927040 PMID:10362519 PMID:11212236 PMID:12202987 PMID:12825850 PMID:15235604 PMID:15731757 PMID:16249459 PMID:16251899 PMID:16283890 PMID:16791849 PMID:16799921 PMID:16835936 PMID:16928994 PMID:17061023 PMID:17319955 PMID:17330129 PMID:17344846 PMID:17345643 PMID:17470566 PMID:17576681 PMID:17652900 PMID:17935258 PMID:18084123 PMID:18781618 PMID:18852674 PMID:19006214 PMID:19875893 PMID:19996017 PMID:20144264 PMID:20358619 PMID:20628007 PMID:20956634 PMID:21098638 PMID:21251594 PMID:21267002 PMID:21270064 PMID:21484991 PMID:21524434 PMID:22095581 PMID:22113417 PMID:22259224 PMID:22488992 PMID:22772368 PMID:22772377 PMID:23103230 PMID:23228659 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24146167 PMID:24220024 PMID:24465802 PMID:24470074 PMID:24792536 PMID:24793577 PMID:24941995 PMID:25116393 PMID:25203624 PMID:25637381 PMID:25741868 PMID:26017485 PMID:26133393 PMID:26467025 PMID:26580448 PMID:26948038 PMID:27100340 PMID:27139629 PMID:27146836 PMID:27508510 PMID:27611364 PMID:27879313 PMID:27930701 PMID:28162229 PMID:28182693 PMID:28218435 PMID:28225382 PMID:28344185 PMID:28492532 PMID:28659821 PMID:28991257 PMID:29168297 PMID:29192238 PMID:29543232 PMID:29703253 PMID:29907982 PMID:30158670 PMID:30222965 PMID:30739908 PMID:31338350 PMID:31769227 PMID:32152251 PMID:32560555 PMID:32887874 PMID:34572573 PMID:36103205 PMID:36672844 More...
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NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:124,674,986...124,761,469
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G
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Tgfbr1
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transforming growth factor, beta receptor 1
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ISO
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ClinVar Annotator: match by term: AORTIC ANEURYSM, FAMILIAL THORACIC 5 | ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 5 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 1
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OMIM ClinVar |
PMID:2511639 PMID:2647812 PMID:9536098 PMID:10025408 PMID:15731757 PMID:16596670 PMID:16791849 PMID:16799921 PMID:16928994 PMID:17576681 PMID:17652900 PMID:18070134 PMID:18455604 PMID:18781618 PMID:18852674 PMID:19542084 PMID:19561605 PMID:19839986 PMID:20332227 PMID:21267002 PMID:21358634 PMID:22113417 PMID:22414221 PMID:23064905 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24793577 PMID:24931266 PMID:25110237 PMID:25116393 PMID:25326635 PMID:25504618 PMID:25521989 PMID:25589165 PMID:25637381 PMID:25715477 PMID:25741868 PMID:25834947 PMID:25907466 PMID:25944730 PMID:25985138 PMID:26848186 PMID:26877057 PMID:27125181 PMID:27146836 PMID:27153395 PMID:27611364 PMID:27647783 PMID:27879313 PMID:28209770 PMID:28492532 PMID:28550590 PMID:28655553 PMID:28659821 PMID:29192238 PMID:29706644 PMID:29907982 PMID:30219046 PMID:30701076 PMID:30739908 PMID:31915033 PMID:32339686 PMID:32867844 PMID:33059708 PMID:33436942 PMID:33693090 PMID:33824467 PMID:34270679 PMID:34422331 PMID:34498425 PMID:35092149 PMID:36103205 PMID:36237225 PMID:36580209 PMID:36937954 PMID:37042257 PMID:37937776 More...
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NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:66,449,293...66,527,260
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G
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Tgfbr2
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transforming growth factor, beta receptor 2
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ISO
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ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 5 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 1
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ClinVar |
PMID:16251899 PMID:16928994 PMID:18781618 PMID:18852674 PMID:19006214 PMID:21484991 PMID:22095581 PMID:22113417 PMID:22259224 PMID:23884466 PMID:24792536 PMID:25637381 PMID:25741868 PMID:28492532 PMID:29907982 PMID:30739908 PMID:32152251 More...
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NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:124,674,986...124,761,469
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G
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Fbn1
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fibrillin 1
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ISO
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ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
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ClinVar |
PMID:845663 PMID:1301946 PMID:1569206 PMID:2005308 PMID:2030732 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:16845272 PMID:16905551 PMID:16971892 PMID:16995940 PMID:17224687 PMID:17253931 PMID:17418587 PMID:17503327 PMID:17576681 PMID:17618372 PMID:17627385 PMID:17657824 PMID:17663468 PMID:17679947 PMID:17680538 PMID:17701892 PMID:17718856 PMID:17884807 PMID:18079676 PMID:18087243 PMID:18435798 PMID:18471089 PMID:18615205 PMID:19002209 PMID:19012347 PMID:19159394 PMID:19161152 PMID:19293843 PMID:19328768 PMID:19349279 PMID:19446531 PMID:19533785 PMID:19561590 PMID:19618372 PMID:19659760 PMID:19720936 PMID:19780835 PMID:19802897 PMID:19839986 PMID:19863550 PMID:19941982 PMID:20082464 PMID:20132243 PMID:20200614 PMID:20224973 PMID:20301510 PMID:20564469 PMID:20591885 PMID:20886638 PMID:21034599 PMID:21135753 PMID:21332468 PMID:21542060 PMID:21784848 PMID:21883168 PMID:21895641 PMID:21907952 PMID:21932315 PMID:22262941 PMID:22393277 PMID:22539873 PMID:22772377 PMID:22913777 PMID:23278365 PMID:23684891 PMID:23719250 PMID:23744319 PMID:23794388 PMID:24033266 PMID:24161884 PMID:24199744 PMID:24220124 PMID:24296667 PMID:24635535 PMID:24698609 PMID:24793577 PMID:24833718 PMID:24941995 PMID:25053872 PMID:25101912 PMID:25525159 PMID:25644172 PMID:25652356 PMID:25656438 PMID:25741868 PMID:25907466 PMID:25944730 PMID:26133393 PMID:26272055 PMID:26333736 PMID:26410935 PMID:26621581 PMID:26770496 PMID:26787436 PMID:26899731 PMID:27112580 PMID:27146836 PMID:27175573 PMID:27229674 PMID:27234404 PMID:27274304 PMID:27353645 PMID:27582083 PMID:27611364 PMID:27724990 PMID:27906200 PMID:28050602 PMID:28117189 PMID:28391405 PMID:28468757 PMID:28492532 PMID:28539832 PMID:28550590 PMID:28642162 PMID:28650953 PMID:28855619 PMID:28901506 PMID:28941062 PMID:28973303 PMID:29198452 PMID:29357934 PMID:29510914 PMID:29543232 PMID:29768367 PMID:29848614 PMID:29875124 PMID:29907982 PMID:30192042 PMID:30341550 PMID:30371227 PMID:30393980 PMID:30675029 PMID:30739908 PMID:30838813 PMID:31098894 PMID:31149040 PMID:31167969 PMID:31211624 PMID:31211626 PMID:31227806 PMID:31279624 PMID:31447099 PMID:31536524 PMID:31730815 PMID:31741853 PMID:31751304 PMID:31825148 PMID:31830381 PMID:31950671 PMID:32123317 PMID:32209317 PMID:32679894 PMID:32989268 PMID:33059708 PMID:33174221 PMID:33200202 PMID:33282382 PMID:33394117 PMID:33436942 PMID:33483583 PMID:33483584 PMID:33648514 PMID:33711475 PMID:33824467 PMID:33844962 PMID:33910934 PMID:34140103 PMID:34150014 PMID:34281902 PMID:34318135 PMID:34422331 PMID:34456093 PMID:34498425 PMID:34550612 PMID:34818515 PMID:34916231 PMID:35042684 PMID:35058154 PMID:35237611 PMID:35741789 PMID:35916808 PMID:35943490 PMID:36380655 PMID:36517271 PMID:36670079 PMID:36729443 PMID:37042257 PMID:37116669 PMID:37378398 PMID:37558401 PMID:37684520 PMID:37840311 PMID:38190127 More...
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NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283
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G
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Tgfbr2
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transforming growth factor, beta receptor 2
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ISO
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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
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OMIM ClinVar |
PMID:8199354 PMID:8246946 PMID:8317497 PMID:9395234 PMID:9536098 PMID:9590282 PMID:9771922 PMID:9927040 PMID:10362519 PMID:11212236 PMID:12202987 PMID:12821554 PMID:12825850 PMID:15235604 PMID:15299527 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:20301312 PMID:20358619 PMID:20628007 PMID:20829218 PMID:20956634 PMID:21098638 PMID:21251594 PMID:21267002 PMID:21270064 PMID:21324918 PMID:21484991 PMID:21524434 PMID:22001912 PMID:22095581 PMID:22113417 PMID:22259224 PMID:22488992 PMID:22772368 PMID:23103230 PMID:23228659 PMID:23585368 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24199744 PMID:24220024 PMID:24465802 PMID:24470074 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:26096872 PMID:26133393 PMID:26467025 PMID:26580448 PMID:26848186 PMID:26877057 PMID:26948038 PMID:27100340 PMID:27112580 PMID:27139629 PMID:27146836 PMID:27508510 PMID:27611364 PMID:27879313 PMID:27930701 PMID:28152038 PMID:28162229 PMID:28182693 PMID:28218435 PMID:28225382 PMID:28344185 PMID:28492532 PMID:28659821 PMID:28679693 PMID:28991257 PMID:29168297 PMID:29192238 PMID:29339704 PMID:29511324 PMID:29543232 PMID:29703253 PMID:29907982 PMID:30056620 PMID:30158670 PMID:30222965 PMID:30341550 PMID:30675401 PMID:30701076 PMID:30739908 PMID:31098894 PMID:31338350 PMID:31569402 PMID:31769227 PMID:31915033 PMID:32420711 PMID:32528524 PMID:32887874 PMID:32897753 PMID:33083483 PMID:33391346 PMID:33726816 PMID:33824467 PMID:34008892 PMID:34498425 PMID:34572573 PMID:34958866 PMID:35130036 PMID:35535697 PMID:35727495 PMID:36103205 PMID:36307044 PMID:36672844 PMID:37090272 PMID:38958168 More...
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NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:124,674,986...124,761,469
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G
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Tmpo
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thymopoietin
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ISO
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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: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE II | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
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ClinVar |
PMID:9536098 PMID:16247757 PMID:17576681 PMID:18484607 PMID:19881469 PMID:20301515 PMID:21270786 PMID:23861362 PMID:24033266 PMID:24375709 PMID:24448499 PMID:25741868 PMID:27662471 PMID:27981572 PMID:28074886 PMID:28166811 PMID:28492532 PMID:28798025 PMID:29247119 PMID:30327538 PMID:30975432 PMID:31983221 PMID:36672271 More...
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NCBI chr 7:27,529,977...27,554,980
Ensembl chr 7:27,529,978...27,554,937
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G
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Smad3
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SMAD family member 3
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ISO
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ClinVar Annotator: match by term: ANEURYSMS-OSTEOARTHRITIS SYNDROME | ClinVar Annotator: match by term: LOEYS-DIETZ SYNDROME WITH OSTEOARTHRITIS | ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 1C | ClinVar Annotator: match by term: SMAD3-related condition
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OMIM ClinVar |
PMID:9536098 PMID:10092624 PMID:11224571 PMID:15350224 PMID:16828225 PMID:17576681 PMID:20301312 PMID:20851114 PMID:21217753 PMID:21778426 PMID:21815248 PMID:22167769 PMID:23554019 PMID:24033266 PMID:24711937 PMID:24804794 PMID:25555948 PMID:25644172 PMID:25741868 PMID:25877775 PMID:25907466 PMID:25944730 PMID:26133393 PMID:26221609 PMID:26333736 PMID:26854089 PMID:27724990 PMID:28185953 PMID:28492532 PMID:29392890 PMID:29510914 PMID:29543232 PMID:29717556 PMID:29907982 PMID:30087447 PMID:30661052 PMID:30675029 PMID:30739908 PMID:30787465 PMID:30833837 PMID:31085000 PMID:31096651 PMID:31447099 PMID:31569402 PMID:31915033 PMID:32022471 PMID:32154675 PMID:32352226 PMID:32597575 PMID:32897753 PMID:33059708 PMID:33125268 PMID:33824467 PMID:34122524 PMID:34150014 PMID:34434896 PMID:35031499 PMID:35487415 PMID:35753512 PMID:35874167 PMID:36495030 More...
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NCBI chr 8:73,022,204...73,132,324
Ensembl chr 8:73,024,760...73,132,324
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G
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Smad6
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SMAD family member 6
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ISO
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ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 1C
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ClinVar |
PMID:28492532 PMID:30796334 |
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NCBI chr 8:73,345,457...73,414,985
Ensembl chr 8:73,345,460...73,414,149
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G
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Aida
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axin interactor, dorsalization associated
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ISO
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ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
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ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:97,471,931...97,499,531
Ensembl chr13:97,471,604...97,499,535
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G
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Bpnt1
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3'(2'), 5'-bisphosphate nucleotidase 1
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ISO
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ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
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ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:99,397,127...99,425,056
Ensembl chr13:99,400,115...99,425,053
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G
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Brox
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BRO1 domain and CAAX motif containing
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ISO
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ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
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ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:97,451,736...97,471,598
Ensembl chr13:97,451,737...97,471,519
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G
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C13h1orf115
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similar to human chromosome 1 open reading frame 115
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ISO
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ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
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ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:98,953,841...98,963,577
Ensembl chr13:98,953,843...98,963,810
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G
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Disp1
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dispatched RND transporter family member 1
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ISO
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ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
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ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:97,252,574...97,398,329
Ensembl chr13:97,252,574...97,398,460
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G
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Dusp10
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dual specificity phosphatase 10
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ISO
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ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
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ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:98,145,317...98,183,304
Ensembl chr13:98,145,893...98,183,304
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G
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Eprs1
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glutamyl-prolyl-tRNA synthetase 1
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ISO
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ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
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ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:99,431,955...99,503,510
Ensembl chr13:99,433,130...99,503,509
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G
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Esrrg
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estrogen-related receptor gamma
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ISO
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ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
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ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:101,699,043...102,316,877
Ensembl chr13:101,889,706...102,316,877
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G
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Fam177b
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family with sequence similarity 177 member B
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ISO
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ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
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ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:97,435,189...97,441,261
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G
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Gpatch2
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G patch domain containing 2
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ISO
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ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
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ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:101,316,413...101,457,109
Ensembl chr13:101,316,413...101,457,109
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G
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Hhipl2
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HHIP like 2
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ISO
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ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
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ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:97,586,296...97,606,223
Ensembl chr13:97,586,341...97,606,223
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G
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Hlx
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H2.0-like homeobox
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ISO
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ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
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ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:98,811,852...98,817,264
Ensembl chr13:98,811,856...98,817,264
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G
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Iars2
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isoleucyl-tRNA synthetase 2, mitochondrial
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ISO
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ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
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ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:99,363,035...99,397,068
Ensembl chr13:99,362,696...99,397,068
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G
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Kcnk2
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potassium two pore domain channel subfamily K member 2
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ISO
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ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
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ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:103,297,387...103,494,686
Ensembl chr13:103,297,393...103,494,686
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G
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Kctd3
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potassium channel tetramerization domain containing 3
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ISO
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ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
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ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:103,041,488...103,080,069
Ensembl chr13:103,041,490...103,080,009
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G
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Lyplal1
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lysophospholipase-like 1
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ISO
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ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
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ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:100,158,060...100,189,339
Ensembl chr13:100,158,060...100,189,503
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G
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Mark1
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microtubule affinity regulating kinase 1
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ISO
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ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
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ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:98,981,727...99,086,998
Ensembl chr13:98,983,020...99,086,701
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G
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Mia3
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MIA SH3 domain ER export factor 3
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ISO
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ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
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ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:97,502,040...97,547,155
Ensembl chr13:97,494,275...97,543,587
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G
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Mir194-1
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microRNA 194-1
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ISO
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ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
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ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:99,382,716...99,382,798
Ensembl chr13:99,382,716...99,382,798
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G
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Mtarc1
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mitochondrial amidoxime reducing component 1
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ISO
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ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
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ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:98,854,235...98,894,208
Ensembl chr13:98,871,289...98,894,252
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G
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Mtarc2
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mitochondrial amidoxime reducing component 2
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ISO
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ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
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ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:98,894,347...98,928,754
Ensembl chr13:98,897,108...98,928,781
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G
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Rab3gap2
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RAB3 GTPase activating non-catalytic protein subunit 2
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ISO
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ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
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ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:99,288,984...99,362,817
Ensembl chr13:99,288,647...99,361,053
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G
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Rrp15
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ribosomal RNA processing 15 homolog
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ISO
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ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
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ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:100,807,729...100,830,812
Ensembl chr13:100,807,722...100,830,834
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G
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Slc30a10
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solute carrier family 30, member 10
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ISO
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ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
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ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:99,529,664...99,584,442
Ensembl chr13:99,529,790...99,544,213
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G
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Spata17
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spermatogenesis associated 17
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ISO
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ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
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ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:101,137,415...101,316,221
Ensembl chr13:101,137,415...101,316,376
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G
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Taf1a
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TATA-box binding protein associated factor, RNA polymerase I subunit A
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ISO
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ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
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ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:97,543,772...97,579,742
Ensembl chr13:97,560,820...97,579,737
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G
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Tgfb2
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transforming growth factor, beta 2
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ISO
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ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
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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:22863191 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:30675029 PMID:30739908 PMID:31191903 PMID:31785789 PMID:31915033 PMID:32154675 PMID:32277047 PMID:32307099 PMID:32897753 PMID:33125268 PMID:33418956 PMID:34008892 PMID:34363016 PMID:35205249 PMID:39534309 More...
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NCBI chr13:100,691,540...100,793,227
Ensembl chr13:100,692,953...100,792,856
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G
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Tgfb3
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transforming growth factor, beta 3
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ISO
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ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
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ClinVar |
PMID:2618446 PMID:24798638 PMID:25835445 PMID:28425089 PMID:28492532 |
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NCBI chr 6:111,435,170...111,457,646
Ensembl chr 6:111,435,170...111,456,946
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G
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Ush2a
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usherin
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ISO
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ClinVar Annotator: match by term: Loeys-Dietz syndrome 4
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ClinVar |
PMID:22772368 PMID:28544325 |
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NCBI chr13:102,368,783...103,035,230
Ensembl chr13:102,368,783...103,035,217
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G
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Esrrb
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estrogen-related receptor beta
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ISO
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ClinVar Annotator: match by term: Rienhoff syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr 6:111,738,662...111,894,087
Ensembl chr 6:111,738,662...111,894,087
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G
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Gpatch2l
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G patch domain containing 2-like
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ISO
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ClinVar Annotator: match by term: Rienhoff syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr 6:111,614,344...111,666,603
Ensembl chr 6:111,614,416...111,666,602
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G
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Ift43
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intraflagellar transport 43
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ISO
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ClinVar Annotator: match by term: Rienhoff syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr 6:111,460,689...111,537,224
Ensembl chr 6:111,456,476...111,537,224
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G
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Tgfb3
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transforming growth factor, beta 3
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ISO
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ClinVar Annotator: match by term: Loeys-Dietz syndrome 5 | ClinVar Annotator: match by term: Rienhoff syndrome
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OMIM ClinVar |
PMID:1631557 PMID:2618446 PMID:7737999 PMID:9536098 PMID:9683588 PMID:12529708 PMID:15639475 PMID:16199547 PMID:17576681 PMID:22943793 PMID:23824657 PMID:23861362 PMID:24125834 PMID:24798638 PMID:25136781 PMID:25351510 PMID:25447171 PMID:25637381 PMID:25741868 PMID:25835445 PMID:26184463 PMID:26188975 PMID:27848944 PMID:28166282 PMID:28240702 PMID:28341588 PMID:28425089 PMID:28492532 PMID:28798025 PMID:29109152 PMID:29247119 PMID:29392890 PMID:29551499 PMID:29907982 PMID:30675029 PMID:31568572 PMID:31898322 PMID:32746448 PMID:32897753 PMID:34076677 PMID:34659991 PMID:35819174 PMID:35903967 PMID:35918752 PMID:36973604 PMID:38041506 PMID:39653386 More...
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NCBI chr 6:111,435,170...111,457,646
Ensembl chr 6:111,435,170...111,456,946
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G
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Ttll5
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tubulin tyrosine ligase like 5
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ISO
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ClinVar Annotator: match by term: Rienhoff syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr 6:111,214,048...111,431,892
Ensembl chr 6:111,214,103...111,431,891
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G
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Smad2
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SMAD family member 2
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ISO
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ClinVar Annotator: match by term: Loeys-Dietz syndrome 6
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OMIM ClinVar |
PMID:15210694 PMID:25741868 PMID:26247899 PMID:28283438 PMID:28492532 PMID:29392890 PMID:29967133 PMID:30157302 PMID:34655614 More...
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NCBI chr18:72,124,792...72,193,345
Ensembl chr18:72,124,863...72,187,388
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G
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Eftud2
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elongation factor Tu GTP binding domain containing 2
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ISO
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DNA:mutations:multiple (human) ClinVar Annotator: match by term: Mandibulofacial dysostosis
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ClinVar RGD |
PMID:25741868 PMID:23188108 |
RGD:10045556 |
NCBI chr10:88,304,992...88,352,229
Ensembl chr10:88,304,992...88,346,299
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G
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Polr1b
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RNA polymerase I subunit B
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ISO
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ClinVar Annotator: match by term: Treacher Collins-Franceschetti syndrome
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ClinVar |
PMID:31649276 |
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NCBI chr 3:136,787,130...136,811,608
Ensembl chr 3:136,787,107...136,811,607
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G
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Polr1c
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RNA polymerase I and III subunit C
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:21131976 |
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NCBI chr 9:22,233,318...22,237,430
Ensembl chr 9:22,233,305...22,237,428
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G
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Polr1d
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RNA polymerase I and III subunit D
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:21131976 |
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NCBI chr12:13,084,505...13,118,069
Ensembl chr12:13,084,512...13,095,627
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G
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Tcof1
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treacle ribosome biogenesis factor 1
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: TREACHER COLLINS-FRANCESCHETTI SYNDROME
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CTD ClinVar |
PMID:16938878 PMID:25741868 PMID:28492532 |
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NCBI chr18:56,537,437...56,570,727
Ensembl chr18:56,537,437...56,570,727
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G
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Ednra
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endothelin receptor type A
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ISO ISS
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OMIM:616367 ClinVar Annotator: match by term: Mandibulofacial dysostosis with alopecia
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OMIM MouseDO ClinVar |
PMID:16116593 PMID:20583178 PMID:25741868 PMID:25772936 PMID:28492532 |
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NCBI chr19:47,137,360...47,207,961
Ensembl chr19:47,137,771...47,201,284
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G
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Abca4
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ATP binding cassette subfamily A member 4
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ISO
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ClinVar Annotator: match by term: MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL RETARDATION
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ClinVar |
PMID:9973280 PMID:10396622 PMID:11017087 PMID:11527935 PMID:11726554 PMID:15579991 PMID:16682602 PMID:18854780 PMID:19074458 PMID:23419329 PMID:25087612 PMID:25283059 PMID:25741868 PMID:27030965 PMID:28041643 PMID:28341476 PMID:28492532 PMID:28559085 PMID:28947085 PMID:29925512 PMID:30204727 PMID:30718709 PMID:31429209 PMID:31456290 PMID:31573552 PMID:31589614 PMID:31964843 PMID:32037395 PMID:32307445 PMID:32467599 PMID:32531858 PMID:32581362 PMID:32619608 PMID:33369172 PMID:33375396 PMID:33546218 PMID:33706644 PMID:34315337 PMID:34426522 PMID:35076026 PMID:35119454 PMID:35260635 PMID:35413457 PMID:35456422 PMID:36460718 PMID:36672815 PMID:36819107 PMID:36909829 More...
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NCBI chr 2:212,849,470...212,986,730
Ensembl chr 2:212,755,803...212,986,729
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G
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Eftud2
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elongation factor Tu GTP binding domain containing 2
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ISO
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ClinVar Annotator: match by term: EFTUD2-related condition | ClinVar Annotator: match by term: Mandibulofacial dysostosis-microcephaly syndrome DNA:mutations:multiple (human)
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OMIM ClinVar RGD |
PMID:9536098 PMID:16199547 PMID:16760738 PMID:17576681 PMID:19334086 PMID:22305528 PMID:22541558 PMID:23188108 PMID:23239648 PMID:23879989 PMID:24470203 PMID:24999515 PMID:25326635 PMID:25326637 PMID:25387991 PMID:25741868 PMID:26507355 PMID:28492532 PMID:28708303 PMID:32333448 PMID:32408545 PMID:32410215 PMID:32799722 PMID:33247512 PMID:36135330 PMID:37236975 PMID:37673932 PMID:22305528 More...
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RGD:10045557 |
NCBI chr10:88,304,992...88,352,229
Ensembl chr10:88,304,992...88,346,299
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G
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Bhlha9
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basic helix-loop-helix family, member a9
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: BHLHA9-related condition | ClinVar Annotator: match by term: Mesoaxial synostotic syndactyly with phalangeal reduction
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OMIM CTD ClinVar |
PMID:9783716 PMID:15039974 PMID:25466284 PMID:25741868 PMID:28492532 |
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NCBI chr10:62,011,787...62,012,908
Ensembl chr10:62,011,787...62,012,908
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G
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Runx2
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RUNX family transcription factor 2
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ISO
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ClinVar Annotator: match by term: Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly | ClinVar Annotator: match by term: RUNX2-related condition CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:9207800 PMID:10521292 PMID:10545612 PMID:10980549 PMID:11768584 PMID:11857736 PMID:12196916 PMID:16140555 PMID:16221346 PMID:19767586 PMID:20376792 PMID:20648631 PMID:21734816 PMID:22023169 PMID:23290074 PMID:24222232 PMID:24634175 PMID:25741868 PMID:28056872 PMID:28492532 PMID:28505335 PMID:29891876 PMID:32360898 PMID:33987976 More...
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NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:23,664,952...23,990,027
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G
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Supt3h
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SPT3 homolog, SAGA and STAGA complex component
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ISO
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ClinVar Annotator: match by term: Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly
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ClinVar |
PMID:23290074 |
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NCBI chr 9:23,375,889...23,704,229
Ensembl chr 9:23,376,136...23,704,466
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G
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Fgfr3
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fibroblast growth factor receptor 3
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ISO ISS
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ClinVar Annotator: match by term: MUENKE NONSYNDROMIC CORONAL CRANIOSYNOSTOSIS | ClinVar Annotator: match by term: Muenke nonsyndromic coronal craniosynostosis | ClinVar Annotator: match by term: Muenke syndrome OMIM:602849 CTD Direct Evidence: marker/mechanism
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OMIM ClinVar MouseDO CTD |
PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589686 PMID:8589699 PMID:8599935 PMID:8640234 PMID:8673103 PMID:8723101 PMID:8723106 PMID:8754806 PMID:8841188 PMID:8845844 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9300656 PMID:9438390 PMID:9452043 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9672519 PMID:9677066 PMID:9790257 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10215410 PMID:10360392 PMID:10361991 PMID:10395236 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10777366 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11754059 PMID:11879084 PMID:12009017 PMID:12362036 PMID:12624096 PMID:12707965 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15843401 PMID:15915095 PMID:16501574 PMID:16752380 PMID:16766665 PMID:16841094 PMID:16912704 PMID:17033969 PMID:17256796 PMID:17320202 PMID:17384684 PMID:17509076 PMID:17552943 PMID:17875876 PMID:18000976 PMID:18076102 PMID:18198189 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19749790 PMID:19855393 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20420824 PMID:20453470 PMID:20624921 PMID:20704477 PMID:21273588 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22339077 PMID:22622662 PMID:23056398 PMID:23149434 PMID:23165795 PMID:23972473 PMID:24075385 PMID:24120763 PMID:24715719 PMID:24728327 PMID:24863959 PMID:24864036 PMID:25271085 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25809207 PMID:26380986 PMID:26740388 PMID:26818779 PMID:26992226 PMID:28230213 PMID:28492532 PMID:28763161 PMID:28777845 PMID:29593476 PMID:29620724 PMID:29681095 PMID:29758562 PMID:30138938 PMID:30635042 PMID:30692697 PMID:30753492 PMID:31218223 PMID:31299979 PMID:31976144 PMID:31994750 PMID:32238909 PMID:32360156 PMID:32502767 PMID:33942288 PMID:34930662 PMID:35726512 PMID:36135330 PMID:36373817 PMID:36474027 More...
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NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209
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G
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Alpg
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alkaline phosphatase, germ cell
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ISO
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ClinVar Annotator: match by term: Lethal multiple pterygium syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr 9:95,187,995...95,205,127
Ensembl chr 9:95,198,334...95,205,742
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G
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Alpi
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alkaline phosphatase, intestinal
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ISO
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ClinVar Annotator: match by term: Lethal multiple pterygium syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr 9:95,221,314...95,224,780
Ensembl chr 9:95,221,314...95,224,780
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G
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Alpp
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alkaline phosphatase, placental
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ISO
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ClinVar Annotator: match by term: Lethal multiple pterygium syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr 9:95,213,763...95,216,509
Ensembl chr 9:95,213,374...95,219,451
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G
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Chrna1
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cholinergic receptor nicotinic alpha 1 subunit
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ISO
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ClinVar Annotator: match by term: Lethal multiple pterygium syndrome
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OMIM ClinVar |
PMID:6287911 PMID:7619526 PMID:7863154 PMID:9158151 PMID:9221765 PMID:9536098 PMID:10195214 PMID:14719537 PMID:15907919 PMID:16199547 PMID:17576681 PMID:18252226 PMID:18806275 PMID:22406191 PMID:22728938 PMID:23037934 PMID:24033266 PMID:24121633 PMID:25348405 PMID:25450229 PMID:25741868 PMID:25741885 PMID:26467025 PMID:27748205 PMID:28492532 PMID:29054425 PMID:30177536 PMID:31680349 PMID:33216040 PMID:36634413 More...
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NCBI chr 3:78,862,286...78,877,353
Ensembl chr 3:78,862,286...78,877,353
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G
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Chrnd
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cholinergic receptor nicotinic delta subunit
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ISO
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ClinVar Annotator: match by term: Lethal multiple pterygium syndrome
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OMIM ClinVar |
PMID:8872460 PMID:9536098 PMID:11435464 PMID:11782989 PMID:16199547 PMID:16916845 PMID:17576681 PMID:18252226 PMID:18398509 PMID:18414213 PMID:23108489 PMID:25264167 PMID:25741868 PMID:26467025 PMID:26578207 PMID:28024842 PMID:28492532 PMID:28518170 PMID:29382405 PMID:29390429 PMID:29399782 PMID:30467950 PMID:31560172 PMID:32070632 PMID:32360402 PMID:32403337 PMID:32528171 PMID:33820833 PMID:34791078 PMID:36733345 More...
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NCBI chr 9:95,310,316...95,318,734
Ensembl chr 9:95,310,298...95,318,745
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G
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Chrng
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cholinergic receptor nicotinic gamma subunit
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ISO
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ClinVar Annotator: match by term: Lethal multiple pterygium syndrome
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OMIM ClinVar |
PMID:16199547 PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 PMID:24254455 PMID:24319099 PMID:25326635 PMID:25411939 PMID:25608830 PMID:25741868 PMID:25957469 PMID:26578207 PMID:26752647 PMID:27245440 PMID:28492532 PMID:29054425 PMID:30868735 PMID:31230720 PMID:31680349 PMID:32536119 PMID:32901917 PMID:33060286 PMID:33820833 PMID:34008892 PMID:34440395 PMID:35904974 More...
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NCBI chr 9:95,325,984...95,332,092
Ensembl chr 9:95,325,984...95,332,092
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G
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Dis3l2
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DIS3-like 3'-5' exoribonuclease 2
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ISO
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ClinVar Annotator: match by term: Lethal multiple pterygium syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr 9:94,802,056...95,184,523
Ensembl chr 9:94,804,382...95,184,522
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G
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Ecel1
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endothelin converting enzyme-like 1
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ISO
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ClinVar Annotator: match by term: Lethal multiple pterygium syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr 9:95,267,417...95,276,508
Ensembl chr 9:95,264,618...95,274,575
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G
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Prss56
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serine protease 56
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ISO
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ClinVar Annotator: match by term: Lethal multiple pterygium syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr 9:95,289,984...95,307,877
Ensembl chr 9:95,302,772...95,307,877
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G
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Fgf9
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fibroblast growth factor 9
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ISS
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OMIM:186500 | OMIM:610017 | OMIM:612961
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MouseDO |
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NCBI chr15:36,325,552...36,369,995
Ensembl chr15:36,325,599...36,367,926
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G
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Gdf5
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growth differentiation factor 5
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ISS
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OMIM:186500 | OMIM:610017 | OMIM:612961
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MouseDO |
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NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:164,914,401...164,918,593
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G
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Fgf9
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fibroblast growth factor 9
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ISO
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ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome
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ClinVar |
PMID:25741868 |
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NCBI chr15:36,325,552...36,369,995
Ensembl chr15:36,325,599...36,367,926
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G
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Gdf5
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growth differentiation factor 5
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ISO
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ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome DNA:missense mutation:cds:p.R438L(1313G>T)(human)
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ClinVar RGD |
PMID:16532400 |
RGD:12738199 |
NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:164,914,401...164,918,593
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G
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Nog
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noggin
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ISO
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ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome DNA:mutation:cds:1426G>C (P.W205C)(Human)
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ClinVar OMIM RGD |
PMID:3667255 PMID:6638061 PMID:10080184 PMID:11846737 PMID:15770128 PMID:16532400 PMID:17609215 PMID:20503332 PMID:25741868 PMID:30311386 PMID:10080184 PMID:16151340 More...
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RGD:1600234, RGD:12801467 |
NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,625,875...74,628,103
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G
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Gdf5
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growth differentiation factor 5
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ISO
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ClinVar Annotator: match by term: Multiple synostoses syndrome 2 CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:9024575 PMID:9288091 PMID:12357473 PMID:16005596 PMID:16127465 PMID:16532400 PMID:17384641 PMID:18203755 PMID:23483675 PMID:25741868 PMID:28032038 PMID:28492532 More...
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NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:164,914,401...164,918,593
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G
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Fgf9
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fibroblast growth factor 9
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: FGF9-related condition | ClinVar Annotator: match by term: Multiple synostoses syndrome 3
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OMIM CTD ClinVar |
PMID:19589401 PMID:25741868 PMID:28492532 PMID:28730625 PMID:36980996 |
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NCBI chr15:36,325,552...36,369,995
Ensembl chr15:36,325,599...36,367,926
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G
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Gdf6
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growth differentiation factor 6
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ISO
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ClinVar Annotator: match by term: Multiple synostoses syndrome 4
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OMIM ClinVar |
PMID:18425797 PMID:19129173 PMID:23307924 PMID:23620759 PMID:24033266 PMID:25457163 PMID:25741868 PMID:26643732 PMID:28492532 PMID:29130651 PMID:30755392 PMID:32483926 PMID:32737436 PMID:38025229 More...
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NCBI chr 5:27,793,561...27,809,884
Ensembl chr 5:27,793,552...27,811,825
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G
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Col10a1
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collagen type X alpha 1 chain
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ISO
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ClinVar Annotator: match by term: Nager syndrome
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr20:39,737,536...39,744,518
Ensembl chr20:39,716,822...39,751,440
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G
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Nt5dc1
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5'-nucleotidase domain containing 1
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ISO
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ClinVar Annotator: match by term: Nager syndrome
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr20:38,105,677...38,208,613
Ensembl chr20:39,660,707...39,786,449
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G
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Sf3b4
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splicing factor 3B subunit 4
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ISO
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ClinVar Annotator: match by term: Nager syndrome | ClinVar Annotator: match by term: SF3B4-related acrofacial dysostosis | ClinVar Annotator: match by term: SF3B4-related condition CTD Direct Evidence: marker/mechanism DNA:mutations:exon:multiple (human) DNA:mutations, haploinsufficiency:exon:multiple (human)
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OMIM ClinVar CTD RGD |
PMID:16199547 PMID:22541558 PMID:23568615 PMID:24003905 PMID:25741868 PMID:27622494 PMID:28492532 PMID:23568615 PMID:22541558 More...
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RGD:155804295, RGD:11062353 |
NCBI chr 2:186,421,667...186,426,419
Ensembl chr 2:186,421,636...186,426,833
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G
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Fgfr1
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Fibroblast growth factor receptor 1
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ISO
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ClinVar Annotator: match by term: Trigonocephaly, nonsyndromic
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ClinVar |
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NCBI chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855
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G
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Frem1
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Fras1 related extracellular matrix 1
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ISO
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DNA:deletion, duplication,missense mutation:cds: DNA:mutations:cds:
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RGD |
PMID:21931569 PMID:21931569 |
RGD:11554186, RGD:11554186 |
NCBI chr 5:102,367,201...102,515,464
Ensembl chr 5:102,367,201...102,515,404
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G
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Specc1l
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sperm antigen with calponin homology and coiled-coil domains 1-like
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Oculomaxillofacial dysostosis | ClinVar Annotator: match by term: Oculomaxillofacial dysplasia with oblique facial clefts
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OMIM CTD ClinVar |
PMID:21703590 PMID:25741868 PMID:28492532 |
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NCBI chr20:13,337,399...13,443,080
Ensembl chr20:13,339,108...13,443,079
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G
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Gja1
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gap junction protein, alpha 1
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ISO ISS
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DNA:missense mutation:cds:p.P59H (human) ClinVar Annotator: match by term: Oculodentodigital dysplasia OMIM:164200 | OMIM:257850 CTD Direct Evidence: marker/mechanism DNA:mutation:cd:p.G138R(mouse) DNA:missense mutation: :p.H194P (human) DNA:missense mutations, duplication:multiple (human) DNA:missense mutation:cds:p.G60S (mouse)
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ClinVar MouseDO CTD OMIM RGD |
PMID:220941 PMID:1057461 PMID:2309863 PMID:4209752 PMID:7815444 PMID:10331943 PMID:11470490 PMID:12457340 PMID:14729836 PMID:15108203 PMID:15192806 PMID:15551259 PMID:15637728 PMID:15879313 PMID:16155213 PMID:16211004 PMID:16378922 PMID:16709485 PMID:17256797 PMID:17420259 PMID:17509830 PMID:17687502 PMID:17901047 PMID:18003637 PMID:18077386 PMID:18079109 PMID:18660473 PMID:18946008 PMID:19057520 PMID:19338053 PMID:19638688 PMID:19725242 PMID:21215473 PMID:21670345 PMID:22090377 PMID:22179534 PMID:23103513 PMID:23304551 PMID:23465283 PMID:23550541 PMID:24115525 PMID:25327171 PMID:25388818 PMID:25741868 PMID:27226478 PMID:27228968 PMID:28492532 PMID:29902798 PMID:30628995 PMID:30631135 PMID:32318302 PMID:33080786 PMID:34035645 PMID:34630166 PMID:35023121 PMID:16219735 PMID:18003637 PMID:15637728 PMID:12457340 PMID:16155213 More...
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RGD:1578474, RGD:12910132, RGD:8662400, RGD:8662375, RGD:8662372 |
NCBI chr20:36,302,490...36,315,010
Ensembl chr20:36,302,352...36,319,689
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G
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Gja1
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gap junction protein, alpha 1
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ISO
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ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:2309863 PMID:11146471 PMID:11470490 PMID:12457340 PMID:14729836 PMID:14974090 PMID:14981729 PMID:15108203 PMID:15192806 PMID:15757815 PMID:15879313 PMID:16378922 PMID:16709485 PMID:16813608 PMID:16816024 PMID:17509830 PMID:17901047 PMID:18003637 PMID:18077386 PMID:18079109 PMID:18660473 PMID:18946008 PMID:19057520 PMID:19338053 PMID:19615768 PMID:19638688 PMID:20130915 PMID:21215473 PMID:21670345 PMID:22090377 PMID:22179534 PMID:22826718 PMID:23103513 PMID:23304551 PMID:23465283 PMID:23606748 PMID:23951358 PMID:24115525 PMID:24508941 PMID:25327171 PMID:25388818 PMID:25398053 PMID:25741868 PMID:26004348 PMID:26537360 PMID:27216975 PMID:27226478 PMID:28258662 PMID:28492532 PMID:29927410 PMID:30628963 PMID:30628995 PMID:30631135 PMID:30653986 PMID:30767687 PMID:30811667 PMID:31023660 PMID:31347275 PMID:32318302 PMID:32449269 PMID:33080786 PMID:34630166 PMID:35023121 More...
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NCBI chr20:36,302,490...36,315,010
Ensembl chr20:36,302,352...36,319,689
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G
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Tbc1d32
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TBC1 domain family, member 32
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ISO
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ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive
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ClinVar |
PMID:28492532 |
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NCBI chr20:35,902,281...36,133,161
Ensembl chr20:35,902,700...36,133,057
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G
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Nectin1
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nectin cell adhesion molecule 1
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ISO
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ClinVar Annotator: match by term: Orofacial cleft 7
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ClinVar |
PMID:10932188 PMID:11559849 PMID:32554531 |
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NCBI chr 8:52,998,662...53,061,745
Ensembl chr 8:52,998,662...53,086,664
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G
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C2cd3
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C2 domain containing 3 centriole elongation regulator
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:24997988 |
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NCBI chr 1:164,127,304...164,225,088
Ensembl chr 1:164,127,281...164,225,086
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G
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Cfap184
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cilia and flagella associated protein 184
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ISO
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ClinVar Annotator: match by term: Orofaciodigital syndrome
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ClinVar |
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NCBI chr14:74,276,568...74,279,072
Ensembl chr14:78,486,414...78,507,808
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G
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Ofd1
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Ofd1 centriole and centriolar satellite protein
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ISO
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ClinVar Annotator: match by term: Orofaciodigital syndrome
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ClinVar |
PMID:25741868 |
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NCBI chr X:31,647,000...31,687,768
Ensembl chr X:31,647,000...31,687,884
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G
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Ttc23
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tetratricopeptide repeat domain 23
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ISO
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ClinVar Annotator: match by term: Orofaciodigital syndrome
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ClinVar |
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NCBI chr 1:130,656,040...130,739,670
Ensembl chr 1:130,656,110...130,739,673
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G
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Wdpcp
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WD repeat containing planar cell polarity effector
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ISO
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ClinVar Annotator: match by term: Orofaciodigital syndrome
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ClinVar |
PMID:9536098 PMID:17576681 PMID:20671153 PMID:25326635 PMID:25427950 PMID:25741868 PMID:27158779 PMID:28289185 PMID:28492532 PMID:33046855 More...
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NCBI chr14:99,847,463...100,178,392
Ensembl chr14:99,847,632...100,200,287
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G
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Ofd1
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Ofd1 centriole and centriolar satellite protein
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ISO ISS
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ClinVar Annotator: match by term: Oral-Facial-Digital Syndrome Type I | ClinVar Annotator: match by term: Orofaciodigital syndrome I OMIM:311200 CTD Direct Evidence: marker/mechanism DNA:missense mutation:exon:243C>G (H81Q) (human) DNA:frameshift mutations, missense mutation, nonsense mutation:multiple DNA:deletion:exon:c.2183delG (human) DNA:frameshift mutations, missense mutation, splice-site mutation:multiple DNA:mutations:exon, intron:multiple
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OMIM ClinVar MouseDO CTD RGD |
PMID:9198060 PMID:9482645 PMID:9536098 PMID:11179005 PMID:11950863 PMID:12595504 PMID:16199547 PMID:16783569 PMID:17576681 PMID:18414213 PMID:18546297 PMID:23033313 PMID:24884629 PMID:25741868 PMID:26275793 PMID:26467025 PMID:26477546 PMID:27081566 PMID:28289185 PMID:28492532 PMID:28973083 PMID:29193896 PMID:29843741 PMID:31373179 PMID:34440443 PMID:18177199 PMID:16397067 PMID:21729220 PMID:11950863 PMID:23033313 More...
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RGD:11535968, RGD:11535966, RGD:11535960, RGD:11535958, RGD:11535957 |
NCBI chr X:31,647,000...31,687,768
Ensembl chr X:31,647,000...31,687,884
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G
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Tmem17
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transmembrane protein 17
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ISO
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ClinVar Annotator: match by term: Orofaciodigital syndrome I
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ClinVar |
PMID:25741868 PMID:26982032 |
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NCBI chr14:96,483,648...96,524,238
Ensembl chr14:100,685,093...100,725,470
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G
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Intu
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inturned planar cell polarity protein
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ISO
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ClinVar Annotator: match by term: Orofaciodigital syndrome II
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ClinVar |
PMID:27158779 |
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NCBI chr 2:125,528,965...125,613,295
Ensembl chr 2:125,529,208...125,613,295
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G
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Nek1
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NIMA-related kinase 1
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susceptibility
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ISO
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ClinVar Annotator: match by term: Mohr syndrome | ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME II
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ClinVar OMIM |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:27455347 PMID:27530628 PMID:28492532 PMID:29068549 PMID:33445179 PMID:35495032 More...
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NCBI chr16:34,009,092...34,137,418
Ensembl chr16:34,009,094...34,128,576
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G
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Celsr2
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cadherin, EGF LAG seven-pass G-type receptor 2
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ISO
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ClinVar Annotator: match by term: Orofaciodigital syndrome III
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ClinVar |
PMID:27894351 PMID:28492532 |
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NCBI chr 2:198,717,333...198,741,689
Ensembl chr 2:198,717,896...198,741,581
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G
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Ofd1
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Ofd1 centriole and centriolar satellite protein
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ISO
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ClinVar Annotator: match by term: Orofaciodigital syndrome III
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ClinVar |
PMID:25741868 |
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NCBI chr X:31,647,000...31,687,768
Ensembl chr X:31,647,000...31,687,884
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G
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Tmem231
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transmembrane protein 231
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ISO
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ClinVar Annotator: match by term: Orofaciodigital syndrome III
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ClinVar |
PMID:25741868 PMID:25869670 PMID:26489029 PMID:28492532 PMID:34354814 |
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NCBI chr19:39,883,077...39,904,296
Ensembl chr19:56,792,329...56,820,094
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G
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Entpd1
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ectonucleoside triphosphate diphosphohydrolase 1
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ISO
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ClinVar Annotator: match by term: Orofacial-digital syndrome IV
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ClinVar |
PMID:28492532 |
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NCBI chr 1:249,374,810...249,502,310
Ensembl chr 1:249,374,836...249,502,317
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G
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Tctn3
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tectonic family member 3
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ISO
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ClinVar Annotator: match by term: MOHR-MAJEWSKI SYNDROME | ClinVar Annotator: match by term: Orofacial-digital syndrome IV | ClinVar Annotator: match by term: Orofaciodigital syndrome IV CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:2692869 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22883145 PMID:24033266 PMID:25118024 PMID:25741868 PMID:26092869 PMID:27377014 PMID:28333917 PMID:28492532 PMID:28771248 PMID:33098376 PMID:35170189 PMID:35885997 PMID:37217489 More...
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NCBI chr 1:249,363,428...249,374,698
Ensembl chr 1:249,363,428...249,374,841
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G
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Sclt1
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sodium channel and clathrin linker 1
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ISO
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ClinVar Annotator: match by term: Orofaciodigital syndrome IX
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ClinVar |
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NCBI chr 2:126,533,436...126,691,879
Ensembl chr 2:126,533,560...126,691,971
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G
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Tbc1d32
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TBC1 domain family, member 32
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ISO
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ClinVar Annotator: match by term: Orofaciodigital syndrome IX
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ClinVar |
PMID:20159594 PMID:24285566 PMID:25741868 PMID:32060556 PMID:32573025 |
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NCBI chr20:35,902,281...36,133,161
Ensembl chr20:35,902,700...36,133,057
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G
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Ddx59
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DEAD-box helicase 59
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ISO
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ClinVar Annotator: match by term: DDX59-related condition | ClinVar Annotator: match by term: Orofaciodigital syndrome V CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:16278897 PMID:23972372 PMID:25741868 PMID:28492532 PMID:28711741 PMID:29127725 PMID:34008892 PMID:39825153 More...
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NCBI chr13:50,427,940...50,452,893
Ensembl chr13:50,427,936...50,453,208
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G
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C2cd3
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C2 domain containing 3 centriole elongation regulator
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ISO
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ClinVar Annotator: match by term: C2CD3-related condition | ClinVar Annotator: match by term: Orofaciodigital syndrome xiv
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OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24997988 PMID:25741868 PMID:26092869 PMID:26477546 PMID:27141300 PMID:28492532 PMID:30097616 PMID:31680349 More...
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NCBI chr 1:164,127,304...164,225,088
Ensembl chr 1:164,127,281...164,225,086
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G
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Scnm1
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sodium channel modifier 1
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ISO
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ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME XIX
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ClinVar |
PMID:36084634 |
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NCBI chr 2:182,700,883...182,705,119
Ensembl chr 2:185,389,892...185,394,214
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G
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4933427D14Rikl
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RIKEN cDNA 4933427D14 gene like
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ISO
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ClinVar Annotator: match by term: Orofaciodigital syndrome XV
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OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26643951 PMID:28492532 PMID:29138412 PMID:34523780 PMID:34529350 More...
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NCBI chr10:57,282,433...57,331,259
Ensembl chr10:57,281,439...57,331,259
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G
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Tmem107
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transmembrane protein 107
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ISO
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ClinVar Annotator: match by term: ORAL-FACIAL-DIGITAL SYNDROME, TYPE XVI | ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME XVI
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OMIM ClinVar |
PMID:25741868 PMID:26595381 PMID:28492532 PMID:39825153 |
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NCBI chr10:54,268,218...54,273,520
Ensembl chr10:54,271,196...54,278,586
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G
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Intu
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inturned planar cell polarity protein
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ISO
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ClinVar Annotator: match by term: INTU-related condition | ClinVar Annotator: match by term: ORAL-FACIAL-DIGITAL SYNDROME, TYPE XVII | ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME XVII
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OMIM ClinVar |
PMID:25741868 PMID:27158779 PMID:28492532 PMID:29451301 PMID:34623732 |
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NCBI chr 2:125,528,965...125,613,295
Ensembl chr 2:125,529,208...125,613,295
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G
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Ift57
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intraflagellar transport 57
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ISO
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ClinVar Annotator: match by term: IFT57-related condition | ClinVar Annotator: match by term: Orofaciodigital syndrome 18
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OMIM ClinVar |
PMID:25741868 PMID:27060890 PMID:28492532 PMID:32860008 |
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NCBI chr11:64,528,349...64,593,545
Ensembl chr11:64,528,349...64,593,545
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G
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Rab34
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RAB34, member RAS oncogene family
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ISO
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ClinVar Annotator: match by term: Orofaciodigital syndrome XX
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OMIM ClinVar |
PMID:25741868 PMID:37384395 PMID:37619988 |
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NCBI chr10:63,581,542...63,585,608
Ensembl chr10:63,580,997...63,586,083
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G
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Zrsr2
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zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2
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ISO
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ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME XXI
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OMIM ClinVar |
PMID:11003938 PMID:25679214 PMID:25741868 PMID:31680349 PMID:38158857 |
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NCBI chr X:34,179,279...34,201,989
Ensembl chr X:34,179,311...34,201,986
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G
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Chst11
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carbohydrate sulfotransferase 11
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ISO
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ClinVar Annotator: match by term: Osteochondrodysplasia, brachydactyly, and overlapping malformed digits
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OMIM ClinVar |
PMID:25741868 PMID:29514872 |
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NCBI chr 7:22,412,121...22,630,577
Ensembl chr 7:22,415,686...22,630,441
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G
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Lmbr1
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limb development membrane protein 1
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ISO
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ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME | ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome
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OMIM ClinVar |
PMID:17300748 PMID:18178630 PMID:18417549 |
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NCBI chr 4:6,649,824...6,820,525
Ensembl chr 4:6,649,821...6,822,238
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G
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Rnf32
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ring finger protein 32
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ISO
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ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome
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ClinVar |
PMID:18178630 |
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NCBI chr 4:6,822,700...6,884,411
Ensembl chr 4:6,824,970...6,883,976
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G
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Shh
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sonic hedgehog signaling molecule
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ISO
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DNA:duplication:enhancer
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RGD |
PMID:18417549 |
RGD:12801418 |
NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:7,687,846...7,697,901
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G
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Nedd4l
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NEDD4 like E3 ubiquitin protein ligase
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ISO
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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
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OMIM ClinVar |
PMID:25741868 PMID:27694961 PMID:28492532 PMID:28515470 PMID:32117442 PMID:32238909 PMID:36474027 More...
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NCBI chr18:60,663,918...60,996,824
Ensembl chr18:60,663,970...60,996,824
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G
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Fgfr1
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Fibroblast growth factor receptor 1
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ISO ISS
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ClinVar Annotator: match by term: ACS V | ClinVar Annotator: match by term: Pfeiffer syndrome | ClinVar Annotator: match by term: Pfeiffer syndrome type 1 ClinVar Annotator: match by term: Acrocephalosyndactyly, type 5 | ClinVar Annotator: match by term: Pfeiffer syndrome | ClinVar Annotator: match by term: Pfeiffer syndrome type 1 OMIM:101600 CTD Direct Evidence: marker/mechanism
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OMIM ClinVar MouseDO CTD |
PMID:1456217 PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 PMID:11173846 PMID:12627230 PMID:14513299 PMID:14564217 PMID:14613973 PMID:15605412 PMID:15793702 PMID:15845591 PMID:16199547 PMID:16764984 PMID:16882753 PMID:16957473 PMID:17154279 PMID:17530415 PMID:18034870 PMID:18160472 PMID:18985070 PMID:20696889 PMID:23329143 PMID:23533228 PMID:23643382 PMID:23657145 PMID:23812909 PMID:24127277 PMID:24497711 PMID:25064402 PMID:25251565 PMID:25383892 PMID:25425165 PMID:25636053 PMID:25741868 PMID:25759380 PMID:26207952 PMID:26467025 PMID:26708526 PMID:26931467 PMID:26942290 PMID:27363716 PMID:27502037 PMID:28492532 PMID:28754744 PMID:30098700 PMID:31200363 PMID:31837199 PMID:32520725 PMID:32666525 PMID:32724172 PMID:33548149 PMID:35738466 PMID:37805574 More...
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NCBI chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855
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G
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Fgfr2
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fibroblast growth factor receptor 2
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ISO ISS
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ClinVar Annotator: match by term: ACS V | ClinVar Annotator: match by term: Pfeiffer syndrome OMIM:101600 CTD Direct Evidence: marker/mechanism DNA:mutations:CDS:multiple (human) DNA:SNPs, missense mutation:splice junction, CDS:multiple (human)
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OMIM ClinVar MouseDO CTD RGD |
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: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:9521581 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:10835640 PMID:10874645 PMID:10945669 PMID:11121055 PMID:11325814 PMID:11390973 PMID:11556600 PMID:11781872 PMID:11807866 PMID:11950815 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12187509 PMID:12400058 PMID:12884424 PMID:12884434 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15282208 PMID:15286168 PMID:15316116 PMID:15389579 PMID:15523492 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:18618990 PMID:19066959 PMID:20133659 PMID:20301628 PMID:20489451 PMID:20503384 PMID:20643727 PMID:20856019 PMID:21397175 PMID:21524234 PMID:22427236 PMID:22558232 PMID:22664175 PMID:22665975 PMID:23348274 PMID:23430493 PMID:23431754 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23754559 PMID:23787031 PMID:24016645 PMID:24036790 PMID:24127277 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25271085 PMID:25361936 PMID:25706251 PMID:25741868 PMID:25759925 PMID:25759927 PMID:25867380 PMID:25937001 PMID:26289989 PMID:26362256 PMID:26380986 PMID:26467025 PMID:27028366 PMID:27079505 PMID:27228464 PMID:27323706 PMID:27481450 PMID:27683237 PMID:27803855 PMID:28492532 PMID:28777933 PMID:28901406 PMID:29848297 PMID:31145570 PMID:31754721 PMID:31827275 PMID:32879300 PMID:36474027 PMID:270283566 PMID:33074973 PMID:7795583 More...
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RGD:155782906, RGD:155663661 |
NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914
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G
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Mdm4
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MDM4 regulator of p53
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ISO
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ClinVar Annotator: match by term: Pfeiffer syndrome
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ClinVar |
PMID:25741868 |
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NCBI chr13:46,922,236...47,068,241
Ensembl chr13:46,958,298...47,026,372
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G
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Irf6
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interferon regulatory factor 6
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ISO ISS
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ClinVar Annotator: match by term: CLEFT LIP/PALATE, PARAMEDIAN MUCOUS CYSTS OF THE LOWER LIP, POPLITEAL PTERYGIUM, DIGITAL AND GENITAL ANOMALIES | ClinVar Annotator: match by term: Popliteal pterygium syndrome OMIM:119500 | OMIM:263650 CTD Direct Evidence: marker/mechanism
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OMIM ClinVar MouseDO CTD |
PMID:12219090 PMID:12920575 PMID:14757865 PMID:15472655 PMID:15558496 PMID:16096995 PMID:16160700 PMID:17551329 PMID:18209213 PMID:18478600 PMID:18617879 PMID:19036739 PMID:19282774 PMID:19449419 PMID:19734457 PMID:20803643 PMID:21045959 PMID:22440537 PMID:22488974 PMID:23949966 PMID:24936515 PMID:25547932 PMID:25548624 PMID:25691407 PMID:25741868 PMID:28492532 PMID:29453417 PMID:31468312 More...
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NCBI chr13:107,200,876...107,220,083
Ensembl chr13:107,200,731...107,220,049
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G
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Ripk4
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receptor-interacting serine-threonine kinase 4
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ISO ISS
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ClinVar Annotator: match by term: Popliteal pterygium syndrome OMIM:119500 | OMIM:263650
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ClinVar MouseDO |
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NCBI chr11:50,591,926...50,614,169
Ensembl chr11:50,591,936...50,614,169
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G
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Dhodh
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dihydroorotate dehydrogenase
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ISO
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ClinVar Annotator: match by term: DHODH-related condition | ClinVar Annotator: match by term: Miller syndrome CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:19915526 PMID:20220176 PMID:21346561 PMID:22692683 PMID:22967083 PMID:24033266 PMID:25741868 PMID:28492532 PMID:33262786 More...
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NCBI chr19:54,460,636...54,483,049
Ensembl chr19:54,468,690...54,514,496
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G
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Hoxa11
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homeobox A11
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ISO
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RGD |
PMID:11101832 |
RGD:11353968 |
NCBI chr 4:82,673,139...82,676,801
Ensembl chr 4:82,673,140...82,676,844
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G
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Mecom
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MDS1 and EVI1 complex locus
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ISO
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ClinVar Annotator: match by term: Radioulnar synostosis
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ClinVar |
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NCBI chr 2:114,837,815...115,393,052
Ensembl chr 2:114,837,840...115,393,038
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G
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Smad6
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SMAD family member 6
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susceptibility
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ISO
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ClinVar Annotator: match by term: Radioulnar synostosis | ClinVar Annotator: match by term: Radioulnar synostosis, nonsyndromic, susceptibility to
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ClinVar OMIM |
PMID:25741868 PMID:27606499 PMID:28492532 PMID:28808027 PMID:28991257 PMID:30796334 PMID:30848080 PMID:31138930 PMID:32748548 PMID:34953066 More...
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NCBI chr 8:73,345,457...73,414,985
Ensembl chr 8:73,345,460...73,414,149
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G
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Hoxa11
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homeobox A11
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: THROMBOCYTOPENIA, CONGENITAL, WITH RADIOULNAR SYNOSTOSIS
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CTD ClinVar |
PMID:24239177 PMID:25741868 |
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NCBI chr 4:82,673,139...82,676,801
Ensembl chr 4:82,673,140...82,676,844
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G
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Hoxa11
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homeobox A11
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ISO
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ClinVar Annotator: match by term: HOXA11-related condition | ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1
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OMIM ClinVar |
PMID:11101832 PMID:25741868 |
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NCBI chr 4:82,673,139...82,676,801
Ensembl chr 4:82,673,140...82,676,844
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G
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Mecom
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MDS1 and EVI1 complex locus
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ISO
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ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1
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ClinVar |
PMID:25741868 |
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NCBI chr 2:114,837,815...115,393,052
Ensembl chr 2:114,837,840...115,393,038
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G
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Cav1
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caveolin 1
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ISO
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ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
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ClinVar |
PMID:25741868 PMID:38177409 |
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NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:46,600,738...46,639,740
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G
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Mecom
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MDS1 and EVI1 complex locus
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ISO
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ClinVar Annotator: match by term: MECOM-related condition | ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
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OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:20091385 PMID:25741868 PMID:26581901 PMID:28492532 PMID:29146883 PMID:29200407 PMID:29519864 PMID:29540340 PMID:34355501 PMID:35219593 More...
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NCBI chr 2:114,837,815...115,393,052
Ensembl chr 2:114,837,840...115,393,038
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G
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Twist1
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twist family bHLH transcription factor 1
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ISO
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ClinVar Annotator: match by term: Acrocephalosyndactyly, Robinow-Sorauf type | ClinVar Annotator: match by term: Robinow-Sorauf syndrome CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:1240778 PMID:10465122 PMID:10749989 PMID:12791045 PMID:16251895 PMID:18391498 PMID:19952666 PMID:24127277 PMID:25741868 PMID:28492532 More...
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NCBI chr 6:56,402,309...56,404,303
Ensembl chr 6:56,398,061...56,404,965
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G
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Asxl1
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ASXL transcriptional regulator 1
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ISO
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ClinVar Annotator: match by term: Rubinstein Taybi like syndrome
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ClinVar |
PMID:16412590 PMID:30806792 |
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NCBI chr 3:162,273,828...162,341,742
Ensembl chr 3:162,273,828...162,341,742
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G
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Kmt2a
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lysine methyltransferase 2A
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ISO
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ClinVar Annotator: match by term: Rubinstein Taybi like syndrome
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ClinVar |
PMID:30806792 |
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NCBI chr 8:54,013,547...54,089,219
Ensembl chr 8:54,013,547...54,089,317
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G
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Kmt2d
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lysine methyltransferase 2D
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ISO
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ClinVar Annotator: match by term: Rubinstein Taybi like syndrome
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ClinVar |
PMID:30806792 |
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NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:131,859,696...131,900,072
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G
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Aco2
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aconitase 2
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 7:115,265,816...115,308,931
Ensembl chr 7:115,265,791...115,308,892
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G
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Adcy9
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adenylate cyclase 9
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1
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ClinVar |
PMID:12114483 PMID:15706485 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 PMID:23063576 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:11,645,373...11,768,462
Ensembl chr10:11,645,282...11,765,792
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G
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Adsl
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adenylosuccinate lyase
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 7:114,359,440...114,383,618
Ensembl chr 7:114,359,440...114,384,872
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G
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Alg1
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ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome
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ClinVar |
PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 PMID:23063576 PMID:28492532 More...
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NCBI chr10:10,346,538...10,356,768
Ensembl chr10:10,853,014...10,863,239
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G
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Anks3
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ankyrin repeat and sterile alpha motif domain containing 3
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome
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ClinVar |
PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 PMID:23063576 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:11,121,504...11,142,261
Ensembl chr10:11,121,553...11,142,491
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G
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Apobec3
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apolipoprotein B mRNA editing enzyme catalytic subunit 3
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 7:113,314,196...113,333,306
Ensembl chr 7:113,314,171...113,333,431
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G
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Atf4
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activating transcription factor 4
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 7:113,684,681...113,686,739
Ensembl chr 7:113,684,681...113,686,739
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G
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C10h16orf89
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similar to human chromosome 16 open reading frame 89
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome
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ClinVar |
PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 PMID:23063576 PMID:28492532 More...
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NCBI chr10:10,856,320...10,877,515
Ensembl chr10:10,868,419...10,877,515
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G
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C10h16orf90
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similar to human chromosome 16 open reading frame 90
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome
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ClinVar |
PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 PMID:23063576 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:12,125,235...12,138,441
Ensembl chr10:12,125,212...12,128,109
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G
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C10h16orf96
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similar to human chromosome 16 open reading frame 96
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome
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ClinVar |
PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 PMID:23063576 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:11,213,789...11,257,180
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G
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Cacna1i
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calcium voltage-gated channel subunit alpha1 I
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 7:113,716,266...113,827,670
Ensembl chr 7:113,716,266...113,827,670
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G
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Cbx7
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chromobox 7
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 7:113,341,030...113,358,716
Ensembl chr 7:113,341,030...113,358,346
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G
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Cdip1
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cell death-inducing p53 target 1
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome
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ClinVar |
PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 PMID:23063576 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:11,278,213...11,303,415
Ensembl chr10:11,293,827...11,303,415
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G
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Chadl
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chondroadherin-like
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 7:115,085,447...115,097,565
Ensembl chr 7:115,085,165...115,097,435
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G
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Cluap1
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clusterin associated protein 1
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome
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ClinVar |
PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 PMID:23063576 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:12,094,346...12,159,440
Ensembl chr10:12,094,346...12,131,693
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G
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Coro7
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coronin 7
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome
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ClinVar |
PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 PMID:23063576 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:11,386,683...11,447,422
Ensembl chr10:11,391,613...11,447,866
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G
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Crebbp
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CREB binding protein
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ISO ISS
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ClinVar Annotator: match by term: BROAD THUMB-HALLUX SYNDROME | ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: CREBBP-related condition | ClinVar Annotator: match by term: RUBINSTEIN SYNDROME | ClinVar Annotator: match by term: RUBINSTEIN-TAYBI SYNDROME 2 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 OMIM:180849 | OMIM:610543 | OMIM:613684 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
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ClinVar MouseDO CTD OMIM RGD |
PMID:7630403 PMID:8967953 PMID:9536098 PMID:11331617 PMID:12070251 PMID:12114483 PMID:12566391 PMID:14974086 PMID:15706485 PMID:16021471 PMID:16199547 PMID:16359492 PMID:16980541 PMID:17052327 PMID:17576681 PMID:17855048 PMID:17942008 PMID:18414213 PMID:18688873 PMID:18792986 PMID:19833603 PMID:19852432 PMID:20358623 PMID:20583168 PMID:20684013 PMID:20689175 PMID:21302340 PMID:21390126 PMID:21680795 PMID:21796119 PMID:21932317 PMID:21984751 PMID:22307725 PMID:22591219 PMID:22664659 PMID:22832583 PMID:23063576 PMID:23334668 PMID:23685749 PMID:23778141 PMID:24088041 PMID:24728327 PMID:25108505 PMID:25388907 PMID:25599811 PMID:25640679 PMID:25741868 PMID:25741869 PMID:25805166 PMID:26087898 PMID:26486927 PMID:26580448 PMID:26619011 PMID:26633545 PMID:26788536 PMID:26956253 PMID:27257017 PMID:27257180 PMID:27311832 PMID:27899157 PMID:28492532 PMID:28523540 PMID:28600779 PMID:28707430 PMID:28970362 PMID:29132461 PMID:29359884 PMID:29460469 PMID:29551561 PMID:30029678 PMID:30586318 PMID:30587507 PMID:30737887 PMID:30755392 PMID:31566936 PMID:31637876 PMID:31981491 PMID:32170002 PMID:32386048 PMID:32594341 PMID:32601476 PMID:32827181 PMID:33502061 PMID:33560380 PMID:33747050 PMID:34652060 PMID:35904974 PMID:36474027 PMID:37091313 PMID:38553851 PMID:10673499 More...
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RGD:734820 |
NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,822,620...11,968,266
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G
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Dnaaf8
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dynein axonemal assembly factor 8
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome
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ClinVar |
PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 PMID:23063576 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:11,107,988...11,121,475
Ensembl chr10:11,107,404...11,121,345
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G
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Dnaja3
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DnaJ heat shock protein family (Hsp40) member A3
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome
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ClinVar |
PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 PMID:23063576 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:11,361,168...11,386,599
Ensembl chr10:11,361,168...11,386,599
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G
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Dnajb7
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DnaJ heat shock protein family (Hsp40) member B7
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
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ClinVar |
PMID:15706485 PMID:24476420 PMID:28492532 |
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NCBI chr 7:112,932,736...112,934,050
Ensembl chr 7:114,810,853...114,814,405
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G
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Dnase1
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deoxyribonuclease 1
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome
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ClinVar |
PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 PMID:23063576 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:12,005,305...12,030,615
Ensembl chr10:12,005,306...12,010,497
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G
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Eef2kmt
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eukaryotic elongation factor 2 lysine methyltransferase
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome
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ClinVar |
PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 PMID:23063576 PMID:28492532 More...
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NCBI chr10:10,336,933...10,349,463
Ensembl chr10:10,843,460...10,853,797
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G
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Enthd1
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ENTH domain containing 1
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 7:111,994,775...112,109,246
Ensembl chr 7:113,875,027...113,989,461
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G
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Ep300
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E1A binding protein p300
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ISO
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DNA:nonsense mutation, deletions:exons, 5' utr:p.R648X, c.2877_2884del, c.-1200-?_94+?del (human) ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: CREBBP-related condition | ClinVar Annotator: match by term: RUBINSTEIN-TAYBI SYNDROME 2 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: CREBBP-related condition | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 DNA:nonsense mutation, deletions:multiple (human)
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ClinVar CTD OMIM RGD |
PMID:9536098 PMID:10700188 PMID:13983033 PMID:15706485 PMID:16199547 PMID:17299436 PMID:17576681 PMID:18414213 PMID:18792986 PMID:19353645 PMID:20014264 PMID:20301699 PMID:20717166 PMID:20848651 PMID:21679367 PMID:24033266 PMID:24352918 PMID:24381114 PMID:24476420 PMID:24728327 PMID:25326635 PMID:25640679 PMID:25712426 PMID:25741868 PMID:26374735 PMID:26486927 PMID:26633542 PMID:27159028 PMID:27465822 PMID:27648933 PMID:28166811 PMID:28492532 PMID:28523540 PMID:29133209 PMID:29300383 PMID:29460469 PMID:29706646 PMID:30076641 PMID:30143558 PMID:31337854 PMID:32476269 PMID:32827181 PMID:32860008 PMID:33043588 PMID:33084842 PMID:33461977 PMID:33644862 PMID:35401678 PMID:36474027 PMID:36973392 PMID:39825153 PMID:15706485 PMID:17220215 More...
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RGD:1580966, RGD:7296921 |
NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:114,946,982...115,058,574
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G
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Fam83f
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family with sequence similarity 83, member F
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 7:114,091,356...114,120,640
Ensembl chr 7:114,091,335...114,120,638
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G
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Gjb2
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gap junction protein, beta 2
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ISO
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ClinVar Annotator: match by term: CREBBP-related condition
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ClinVar |
PMID:10633133 PMID:10983956 PMID:11385713 PMID:11438992 PMID:12111646 PMID:12172394 PMID:12792423 PMID:14985372 PMID:15070423 PMID:15967879 PMID:16380907 PMID:16712961 PMID:19043807 PMID:19366456 PMID:20083784 PMID:20095872 PMID:22695344 PMID:22991996 PMID:24341454 PMID:25266519 PMID:25741868 PMID:26043044 PMID:26119842 PMID:26467025 PMID:27610647 PMID:28428247 PMID:28492532 PMID:31160754 More...
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NCBI chr15:35,375,977...35,393,817
Ensembl chr15:35,375,692...35,393,877
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G
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Glis2
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GLIS family zinc finger 2
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1
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ClinVar |
PMID:12114483 PMID:15706485 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 PMID:23063576 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:11,457,594...11,484,948
Ensembl chr10:11,457,792...11,477,995
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G
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Glyr1
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glyoxylate reductase 1 homolog
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome
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ClinVar |
PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 PMID:23063576 PMID:28492532 More...
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NCBI chr10:11,038,577...11,074,093
Ensembl chr10:11,038,568...11,074,090
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G
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Grap2
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GRB2-related adaptor protein 2
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 7:113,997,356...114,071,073
Ensembl chr 7:113,997,307...114,075,367
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G
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Hmox2
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heme oxygenase 2
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome
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ClinVar |
PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 PMID:23063576 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:11,303,512...11,337,640
Ensembl chr10:11,303,512...11,318,800
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G
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L3mbtl2
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L3MBTL histone methyl-lysine binding protein 2
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 7:115,066,427...115,087,625
Ensembl chr 7:115,066,486...115,087,598
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G
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Mchr1
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melanin-concentrating hormone receptor 1
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
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ClinVar |
PMID:15706485 PMID:24476420 PMID:28492532 |
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NCBI chr 7:114,641,721...114,644,913
Ensembl chr 7:114,641,580...114,644,919
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G
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Mefv
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MEFV innate immunity regulator, pyrin
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome
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ClinVar |
PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 PMID:23063576 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:12,288,514...12,303,337
Ensembl chr10:12,293,782...12,303,333
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G
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Mgat3
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beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 7:113,614,011...113,640,201
Ensembl chr 7:113,598,059...113,643,481
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G
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Mgrn1
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mahogunin ring finger 1
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome
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ClinVar |
PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 PMID:23063576 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:11,142,626...11,194,773
Ensembl chr10:11,145,690...11,194,805
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G
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Mief1
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mitochondrial elongation factor 1
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 7:113,666,918...113,679,550
Ensembl chr 7:113,666,901...113,683,977
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G
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Mrtfa
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myocardin related transcription factor A
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 7:114,424,481...114,594,594
Ensembl chr 7:114,424,481...114,594,594
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G
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Naa60
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N(alpha)-acetyltransferase 60, NatF catalytic subunit
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome
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ClinVar |
PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 PMID:23063576 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:12,129,026...12,149,053
Ensembl chr10:12,131,429...12,139,262
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G
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Nagpa
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N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome
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ClinVar |
PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 PMID:23063576 PMID:28492532 More...
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NCBI chr10:10,380,262...10,388,609
Ensembl chr10:10,886,733...10,895,074
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G
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Nlrc3
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NLR family, CARD domain containing 3
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome
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ClinVar |
PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 PMID:23063576 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:12,055,809...12,093,449
Ensembl chr10:12,057,738...12,091,393
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G
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Nmral1
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NmrA like redox sensor 1
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome
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ClinVar |
PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 PMID:23063576 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:11,348,080...11,356,621
Ensembl chr10:11,348,213...11,356,620
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G
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Nudt16l1
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nudix hydrolase 16 like 1
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome
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ClinVar |
PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 PMID:23063576 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:11,142,626...11,144,542
Ensembl chr10:11,142,627...11,144,764
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G
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Or2c1
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olfactory receptor family 2 subfamily C member 1
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome
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ClinVar |
PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 PMID:23063576 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:12,189,254...12,190,192
Ensembl chr10:12,189,254...12,190,192
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G
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Pam16
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presequence translocase associated motor 16
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ISO
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ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation ClinVar Annotator: match by term: Rubinstein-Taybi syndrome
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ClinVar |
PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 PMID:23063576 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:11,449,316...11,457,071
Ensembl chr10:11,449,117...11,460,526
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G
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Pank2
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pantothenate kinase 2
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
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ClinVar |
PMID:11479594 PMID:12510040 PMID:15659606 PMID:15834858 PMID:16272150 PMID:16450344 PMID:22221393 PMID:22416811 PMID:23968566 PMID:24075960 PMID:24215330 PMID:24348190 PMID:25741868 PMID:26795593 PMID:28492532 PMID:28708303 PMID:29590070 PMID:32456086 PMID:39825153 More...
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NCBI chr 3:138,936,448...138,974,196
Ensembl chr 3:138,936,452...138,974,194
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G
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Pdgfb
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platelet derived growth factor subunit B
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:113,420,710...113,438,343
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G
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Phf5a
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PHD finger protein 5A
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 7:115,258,609...115,265,174
Ensembl chr 7:115,258,609...115,265,174
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G
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Ppl
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periplakin
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome
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ClinVar |
PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 PMID:23063576 PMID:28492532 More...
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NCBI chr10:10,957,388...11,003,035
Ensembl chr10:10,957,341...11,003,658
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G
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Rangap1
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RAN GTPase activating protein 1
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 7:115,104,820...115,130,564
Ensembl chr 7:115,104,823...115,130,564
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G
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Rbx1
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ring-box 1
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
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ClinVar |
PMID:15706485 PMID:24476420 PMID:28492532 |
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NCBI chr 7:114,870,893...114,881,194
Ensembl chr 7:114,870,972...114,881,191
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G
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Rogdi
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rogdi atypical leucine zipper
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ISO
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ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation ClinVar Annotator: match by term: Rubinstein-Taybi syndrome
|
ClinVar |
PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 PMID:23063576 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:11,074,288...11,078,907
Ensembl chr10:11,074,262...11,078,906
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G
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Rpl3
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ribosomal protein L3
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 7:113,491,943...113,508,115
Ensembl chr 7:113,501,960...113,507,990
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G
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Rps19bp1
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ribosomal protein S19 binding protein 1
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
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ClinVar |
PMID:28492532 |
|
NCBI chr 7:111,809,354...111,812,741
Ensembl chr 7:113,689,636...113,693,023
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G
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Sec14l5
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SEC14-like lipid binding 5
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome
|
ClinVar |
PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 PMID:23063576 PMID:28492532 More...
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NCBI chr10:10,901,430...10,942,548
Ensembl chr10:10,903,344...10,942,386
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G
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Septin12
|
septin 12
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome
|
ClinVar |
PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 PMID:23063576 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:11,087,354...11,097,036
Ensembl chr10:11,086,863...11,097,034
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G
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Sgsm3
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small G protein signaling modulator 3
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
|
ClinVar |
PMID:28492532 |
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NCBI chr 7:114,394,724...114,424,285
Ensembl chr 7:114,394,813...114,424,489
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G
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Slc25a17
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solute carrier family 25 member 17
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ISO
|
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
|
ClinVar |
PMID:15706485 PMID:24476420 PMID:28492532 |
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NCBI chr 7:114,724,533...114,767,163
Ensembl chr 7:114,724,533...114,767,345
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G
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Slx4
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SLX4 structure-specific endonuclease subunit
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ISO
|
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome
|
ClinVar |
PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 PMID:23063576 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:12,032,131...12,055,685
Ensembl chr10:12,033,048...12,055,650
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G
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Smim22
|
small integral membrane protein 22
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ISO
|
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome
|
ClinVar |
PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 PMID:23063576 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:11,079,019...11,080,804
Ensembl chr10:11,078,934...11,080,200
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G
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Snord43
|
small nucleolar RNA, C/D box 43
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ISO
|
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 7:111,627,136...111,627,199
Ensembl chr 7:113,507,486...113,507,549
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G
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Snord83b
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small nucleolar RNA, C/D box 83B
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ISO
|
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
|
ClinVar |
PMID:28492532 |
|
NCBI chr 7:111,622,885...111,622,978
Ensembl chr 7:113,503,235...113,503,328
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G
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Srl
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sarcalumenin
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ISO
|
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1
|
ClinVar |
PMID:12114483 PMID:15706485 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 PMID:23063576 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:11,540,365...11,584,506
Ensembl chr10:11,540,443...11,584,504
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G
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St13
|
ST13, Hsp70 interacting protein
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|
ISO
|
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
|
ClinVar |
PMID:15706485 PMID:24476420 PMID:28492532 |
|
NCBI chr 7:114,769,758...114,805,877
Ensembl chr 7:114,769,759...114,805,941
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G
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Syngr1
|
synaptogyrin 1
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|
ISO
|
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
|
ClinVar |
PMID:28492532 |
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NCBI chr 7:113,516,246...113,542,918
Ensembl chr 7:113,516,265...113,542,917
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G
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Tab1
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TGF-beta activated kinase 1/MAP3K7 binding protein 1
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 7:113,556,157...113,587,351
Ensembl chr 7:113,555,819...113,587,351
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G
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Tef
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TEF transcription factor, PAR bZIP family member
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 7:115,197,180...115,221,930
Ensembl chr 7:115,193,282...115,221,928
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G
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Tfap4
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transcription factor AP-4
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1
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ClinVar |
PMID:12114483 PMID:15706485 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 PMID:23063576 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:11,507,242...11,525,794
Ensembl chr10:11,485,565...11,525,794
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G
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Tnrc6b
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trinucleotide repeat containing adaptor 6B
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 7:114,132,574...114,350,010
Ensembl chr 7:114,132,573...114,342,973
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G
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Tob2
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transducer of ERBB2, 2
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 7:115,242,843...115,251,563
Ensembl chr 7:115,239,895...115,258,155
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G
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Trap1
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TNF receptor-associated protein 1
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1
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ClinVar |
PMID:12114483 PMID:15706485 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 PMID:19833603 PMID:21302340 PMID:21932317 PMID:22307725 PMID:22664659 PMID:23063576 PMID:25741868 PMID:25805166 PMID:27257017 PMID:28492532 PMID:31566936 PMID:32170002 PMID:32594341 PMID:32827181 More...
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NCBI chr10:11,971,259...12,005,306
Ensembl chr10:11,970,995...12,005,355
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G
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Ubald1
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UBA-like domain containing 1
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome
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ClinVar |
PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 PMID:23063576 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:11,202,197...11,206,962
Ensembl chr10:11,202,155...11,207,787
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G
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Ubn1
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ubinuclein 1
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome
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ClinVar |
PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 PMID:23063576 PMID:28492532 More...
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NCBI chr10:11,003,036...11,038,466
Ensembl chr10:11,003,036...11,038,466
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G
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Vasn
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vasorin
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome
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ClinVar |
PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 PMID:23063576 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:11,424,174...11,434,681
Ensembl chr10:11,417,327...11,450,704
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G
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Xpnpep3
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X-prolyl aminopeptidase 3
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
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ClinVar |
PMID:15706485 PMID:24476420 PMID:28492532 |
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NCBI chr 7:114,806,398...114,858,934
Ensembl chr 7:114,806,357...114,855,125
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G
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Zc3h7b
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zinc finger CCCH-type containing 7B
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
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ClinVar |
PMID:28492532 |
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NCBI chr 7:115,142,245...115,190,513
Ensembl chr 7:115,142,420...115,190,513
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G
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Zfp174
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zinc finger protein 174
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome
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ClinVar |
PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 PMID:23063576 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:12,169,012...12,182,775
Ensembl chr10:12,174,540...12,182,689
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G
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Zfp263
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zinc finger protein 263
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome
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ClinVar |
PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 PMID:23063576 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:12,270,785...12,280,982
Ensembl chr10:12,234,057...12,277,587
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G
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Zfp597
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zinc finger protein 597
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ISO
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ClinVar Annotator: match by term: Rubinstein-Taybi syndrome
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ClinVar |
PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 PMID:23063576 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:12,159,533...12,165,207
Ensembl chr10:12,149,225...12,169,367
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G
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Fgfr2
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fibroblast growth factor receptor 2
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ISO
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ClinVar Annotator: match by term: CHOTZEN SYNDROME | ClinVar Annotator: match by term: Chotzen syndrome | ClinVar Annotator: match by term: Saethre-Chotzen syndrome
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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: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:20301628 PMID:20489451 PMID:20856019 PMID:21397175 PMID:22664175 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23787031 PMID:24016645 PMID:24127277 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25425289 PMID:25706251 PMID:25741868 PMID:25867380 PMID:25937001 PMID:26325558 PMID:26380986 PMID:26429889 PMID:26467025 PMID:27079505 PMID:27323706 PMID:28492532 PMID:29848297 PMID:31145570 PMID:32879300 PMID:36474027 More...
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NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914
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G
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Fgfr3
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fibroblast growth factor receptor 3
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ISO
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ClinVar Annotator: match by term: Saethre-Chotzen syndrome
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ClinVar |
PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 PMID:9279764 PMID:9300656 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9843059 PMID:9950359 PMID:10094188 PMID:10861678 PMID:11424131 PMID:11746040 PMID:12362036 PMID:14613973 PMID:15241680 PMID:15915095 PMID:16501574 PMID:17552943 PMID:18000976 PMID:19215249 PMID:20301588 PMID:20301628 PMID:22016144 PMID:22622662 PMID:24728327 PMID:24864036 PMID:25271085 PMID:25614871 PMID:25741868 PMID:26740388 PMID:28492532 PMID:32238909 More...
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NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209
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G
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Twist1
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twist family bHLH transcription factor 1
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ISO ISS
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CHOTZEN SYNDROME | ClinVar Annotator: match by term: Chotzen syndrome | ClinVar Annotator: match by term: Saethre-Chotzen syndrome | ClinVar Annotator: match by term: Saethre-Chotzen syndrome with eyelid anomalies OMIM:101400 | OMIM:180750
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CTD ClinVar MouseDO OMIM |
PMID:8968762 PMID:8988166 PMID:8988167 PMID:9259286 PMID:9585583 PMID:9934984 PMID:10094188 PMID:10649491 PMID:10749989 PMID:11248247 PMID:11474656 PMID:11748846 PMID:11754069 PMID:11854168 PMID:11977182 PMID:11992718 PMID:14513358 PMID:15099347 PMID:15923834 PMID:16251895 PMID:16838304 PMID:17651129 PMID:18391498 PMID:19373776 PMID:19952666 PMID:20643727 PMID:21876555 PMID:22995991 PMID:23527594 PMID:24127277 PMID:25271085 PMID:25741868 PMID:25741869 PMID:28369379 PMID:28492532 PMID:29304373 PMID:30074960 PMID:30450715 PMID:31754721 PMID:31837199 PMID:32909287 PMID:39033378 More...
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NCBI chr 6:56,402,309...56,404,303
Ensembl chr 6:56,398,061...56,404,965
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G
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Fgfr2
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fibroblast growth factor receptor 2
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ISO
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ClinVar Annotator: match by term: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND IMPAIRED INTELLECTUAL DEVELOPMENT CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8651276 PMID:8696350 PMID:8957519 PMID:9002682 PMID:9169049 PMID:9462761 PMID:9677057 PMID:9700203 PMID:9719378 PMID:11121055 PMID:11390973 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15389579 PMID:15523492 PMID:15975938 PMID:16061565 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16501574 PMID:16531735 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17525745 PMID:18414213 PMID:20301628 PMID:20489451 PMID:20856019 PMID:21397175 PMID:22664175 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23787031 PMID:24016645 PMID:24127277 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25706251 PMID:25741868 PMID:25867380 PMID:25937001 PMID:26380986 PMID:26467025 PMID:27079505 PMID:27323706 PMID:28492532 PMID:29848297 PMID:31145570 PMID:31502745 PMID:32879300 PMID:36474027 PMID:39825153 More...
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NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914
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G
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Lrp4
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LDL receptor related protein 4
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
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NCBI chr 3:97,885,373...97,939,366
Ensembl chr 3:97,885,400...97,939,370
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G
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Sost
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sclerostin
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ISO
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DNA:transition: :69C>T (human) ClinVar Annotator: match by term: CORTICAL HYPEROSTOSIS WITH SYNDACTYLY CTD Direct Evidence: marker/mechanism
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ClinVar CTD RGD |
PMID:25741868 PMID:28492532 PMID:11179006 |
RGD:68858 |
NCBI chr10:87,412,722...87,415,766
Ensembl chr10:87,411,721...87,415,766
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G
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Sost
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sclerostin
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ISO ISS
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ClinVar Annotator: match by term: SOST-related condition | ClinVar Annotator: match by term: Sclerosteosis 1 OMIM:269500
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OMIM ClinVar MouseDO |
PMID:11179006 PMID:11181578 PMID:19072561 PMID:20301406 PMID:21221996 PMID:25741868 PMID:25984533 PMID:28492532 More...
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NCBI chr10:87,412,722...87,415,766
Ensembl chr10:87,411,721...87,415,766
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G
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Lrp4
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LDL receptor related protein 4
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ISO ISS
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ClinVar Annotator: match by term: Sclerosteosis 2 OMIM:614305
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OMIM ClinVar MouseDO |
PMID:7891385 PMID:9536098 PMID:11385236 PMID:17576681 PMID:21471202 PMID:24234652 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:97,885,373...97,939,366
Ensembl chr 3:97,885,400...97,939,370
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G
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Acap3
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ArfGAP with coiled-coil, ankyrin repeat and PH domains 3
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
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ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:171,783,382...171,797,709
Ensembl chr 5:171,783,382...171,798,191
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G
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Actrt2
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actin-related protein T2
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
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ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:170,518,470...170,519,870
Ensembl chr 5:170,518,165...170,521,164
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G
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Agrn
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agrin
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr 5:172,031,528...172,064,429
Ensembl chr 5:172,031,528...172,064,539
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G
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Ankrd65
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ankyrin repeat domain 65
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
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ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:171,680,597...171,682,854
Ensembl chr 5:171,680,597...171,683,431
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G
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Arhgef16
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Rho guanine nucleotide exchange factor 16
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
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ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:170,126,573...170,148,624
Ensembl chr 5:170,126,575...170,148,624
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G
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Atad3a
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ATPase family, AAA domain containing 3A
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
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ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:171,632,545...171,652,725
Ensembl chr 5:171,632,547...171,652,725
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G
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B3galt6
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Beta-1,3-galactosyltransferase 6
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
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ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:171,866,428...171,868,564
Ensembl chr 5:171,864,094...171,874,789
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G
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C1qtnf12
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C1q and TNF related 12
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
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ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:171,833,854...171,838,229
Ensembl chr 5:171,833,854...171,838,800
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G
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C5h1orf159
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similar to human chromosome 1 open reading frame 159
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr 5:171,983,700...172,001,373
Ensembl chr 5:171,983,936...172,001,373
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G
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Ccdc27
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coiled-coil domain containing 27
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
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ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:169,867,706...169,881,820
Ensembl chr 5:169,867,709...169,881,888
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G
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Ccnl2
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cyclin L2
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
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ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:171,698,951...171,711,037
Ensembl chr 5:171,699,689...171,711,231
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G
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Cdk11b
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cyclin-dependent kinase 11B
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
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ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:171,495,042...171,521,143
Ensembl chr 5:171,495,776...171,521,145
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G
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Cep104
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centrosomal protein 104
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
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ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:169,817,383...169,849,681
Ensembl chr 5:169,817,182...169,852,695
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G
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Cfap74
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cilia and flagella associated protein 74
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
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ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:171,252,907...171,328,351
Ensembl chr 5:171,262,113...171,328,349
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G
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Cptp
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ceramide-1-phosphate transfer protein
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:171,757,181...171,761,271
Ensembl chr 5:171,757,181...171,761,266
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G
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Dvl1
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dishevelled segment polarity protein 1
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:171,738,911...171,750,967
Ensembl chr 5:171,739,133...171,750,966
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G
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Faap20
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FA core complex associated protein 20
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:171,083,328...171,097,599
Ensembl chr 5:171,087,847...171,097,599
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G
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Fndc10
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fibronectin type III domain containing 10
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:171,581,960...171,584,519
Ensembl chr 5:171,580,033...171,595,399
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G
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Gabrd
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gamma-aminobutyric acid type A receptor subunit delta
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:171,240,813...171,252,709
Ensembl chr 5:171,240,789...171,253,094
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G
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Gnb1
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G protein subunit beta 1
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:171,357,778...171,424,489
Ensembl chr 5:171,357,797...171,424,488
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G
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Hes5
|
hes family bHLH transcription factor 5
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:170,804,511...170,807,988
Ensembl chr 5:170,803,940...170,806,021
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G
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Ints11
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integrator complex subunit 11
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:171,761,370...171,779,883
Ensembl chr 5:171,761,371...171,779,883
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G
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Kifbp
|
kinesin family binding protein
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ISO
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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 PMID:39033378 More...
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NCBI chr20:31,055,625...31,075,232
Ensembl chr20:31,055,626...31,075,201
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G
|
Lrrc47
|
leucine rich repeat containing 47
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|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:169,852,926...169,862,598
Ensembl chr 5:169,852,897...169,862,598
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G
|
Megf6
|
multiple EGF-like-domains 6
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:170,020,699...170,121,557
Ensembl chr 5:170,020,778...170,121,554
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G
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Mib2
|
MIB E3 ubiquitin protein ligase 2
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,526,037...171,542,479
Ensembl chr 5:171,526,037...171,541,910
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G
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Mir200a
|
microRNA 200a
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|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:171,930,717...171,930,805
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G
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Mir200b
|
microRNA 200b
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:171,931,495...171,931,589
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G
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Mir429
|
microRNA 429
|
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ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:171,929,682...171,929,766
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G
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Mmel1
|
membrane metallo-endopeptidase-like 1
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:170,713,602...170,744,058
Ensembl chr 5:170,713,627...170,744,058
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G
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Mmp23
|
matrix metallopeptidase 23
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,521,905...171,525,007
Ensembl chr 5:171,520,494...171,524,695
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G
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Morn1
|
MORN repeat containing 1
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|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:170,928,086...170,987,219
Ensembl chr 5:170,929,321...170,987,218
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G
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Mrpl20
|
mitochondrial ribosomal protein L20
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,690,664...171,695,728
Ensembl chr 5:171,691,198...171,695,728
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G
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Mxra8
|
matrix remodeling associated 8
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,731,153...171,735,879
Ensembl chr 5:171,731,353...171,735,879
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G
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Nadk
|
NAD kinase
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|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,427,973...171,458,586
Ensembl chr 5:171,428,000...171,458,579
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G
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Nek9
|
NIMA-related kinase 9
|
|
ISO
|
ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome
|
ClinVar |
PMID:25741868 |
|
NCBI chr 6:110,675,107...110,715,586
Ensembl chr 6:110,675,107...110,715,586
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|
G
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Pank4
|
pantothenate kinase 4
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:170,807,744...170,824,478
Ensembl chr 5:170,807,745...170,824,477
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|
G
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Pex10
|
peroxisomal biogenesis factor 10
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:170,910,136...170,915,302
Ensembl chr 5:170,910,157...170,916,685
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G
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Plch2
|
phospholipase C, eta 2
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:170,826,543...170,885,012
Ensembl chr 5:170,826,543...170,885,152
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G
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Prdm16
|
PR/SET domain 16
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:170,162,275...170,486,371
Ensembl chr 5:170,162,275...170,485,804
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G
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Prkcz
|
protein kinase C, zeta
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,101,774...171,212,694
Ensembl chr 5:171,101,774...171,212,674
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G
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Prxl2b
|
peroxiredoxin like 2B
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:170,744,953...170,747,556
Ensembl chr 5:170,744,953...170,747,556
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G
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Pusl1
|
pseudouridine synthase like 1
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,773,284...171,782,893
Ensembl chr 5:171,773,331...171,783,339
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G
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Rer1
|
retention in endoplasmic reticulum sorting receptor 1
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:170,916,643...170,929,073
Ensembl chr 5:170,916,905...170,928,980
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|
G
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Rnf223
|
ring finger protein 223
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:172,005,566...172,008,456
Ensembl chr 5:172,005,566...172,008,458
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|
G
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Sdf4
|
stromal cell derived factor 4
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,868,591...171,885,827
Ensembl chr 5:171,868,563...171,888,884
|
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G
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Ski
|
Ski proto-oncogene
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|
ISO
|
ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome CTD Direct Evidence: marker/mechanism
|
OMIM ClinVar CTD |
PMID:7977351 PMID:8449506 PMID:8981946 PMID:9536098 PMID:15979919 PMID:16199547 PMID:16327884 PMID:17576681 PMID:19112531 PMID:19114989 PMID:21699693 PMID:23023332 PMID:23103230 PMID:23892090 PMID:24033266 PMID:24357594 PMID:24736733 PMID:25326635 PMID:25326637 PMID:25741868 PMID:27146836 PMID:28252636 PMID:28492532 PMID:28667723 PMID:28750028 PMID:28757364 PMID:28857439 PMID:29168297 PMID:29543232 PMID:31322791 PMID:31602316 PMID:31754721 PMID:31980905 PMID:32123317 PMID:33416497 PMID:33436942 PMID:33824467 PMID:38177409 More...
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|
NCBI chr 5:170,995,851...171,064,957
Ensembl chr 5:170,995,851...171,064,957
|
|
G
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Slc35e2b
|
solute carrier family 35, member E2B
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,465,222...171,493,317
Ensembl chr 5:171,475,386...171,493,315
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|
G
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Smim1
|
small integral membrane protein 1 (Vel blood group)
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:169,861,751...169,867,070
Ensembl chr 5:169,864,251...169,866,942
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G
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Ssu72
|
SSU72 homolog, RNA polymerase II CTD phosphatase
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,595,919...171,625,675
Ensembl chr 5:171,595,851...171,625,268
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G
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Tas1r3
|
taste 1 receptor member 3
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,750,937...171,754,993
Ensembl chr 5:171,750,937...171,754,993
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G
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Tmem240
|
transmembrane protein 240
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,625,830...171,653,836
Ensembl chr 5:171,626,275...171,633,044
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G
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Tmem278
|
transmembrane protein 278
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,673,319...171,676,143
Ensembl chr 5:171,673,319...171,676,143
|
|
G
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Tmem52
|
transmembrane protein 52
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,330,948...171,332,704
Ensembl chr 5:171,330,966...171,332,704
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|
G
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Tnfrsf14
|
TNF receptor superfamily member 14
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:170,768,413...170,776,749
Ensembl chr 5:170,768,416...170,776,046
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G
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Tnfrsf18
|
TNF receptor superfamily member 18
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:171,901,734...171,904,578
Ensembl chr 5:171,901,717...171,904,576
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G
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Tnfrsf4
|
TNF receptor superfamily member 4
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,889,134...171,891,824
Ensembl chr 5:171,889,117...171,892,616
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|
G
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Tp73
|
tumor protein p73
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|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:169,903,801...169,988,075
Ensembl chr 5:169,903,801...169,963,552
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G
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Tprg1l
|
tumor protein p63 regulated 1-like
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:170,004,577...170,007,784
Ensembl chr 5:170,004,577...170,007,983
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G
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Ttc34
|
tetratricopeptide repeat domain 34
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:170,693,410...170,711,215
Ensembl chr 5:170,693,402...170,710,368
|
|
G
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Ttll10
|
tubulin tyrosine ligase like 10
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:171,912,371...171,937,733
Ensembl chr 5:171,912,376...171,926,337
|
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G
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Ube2j2
|
ubiquitin-conjugating enzyme E2, J2
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,815,607...171,830,037
Ensembl chr 5:171,815,623...171,830,034
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G
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Vwa1
|
von Willebrand factor A domain containing 1
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,659,694...171,664,880
Ensembl chr 5:171,659,698...171,664,880
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G
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Wrap73
|
WD repeat containing, antisense to TP73
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:169,988,538...170,004,071
Ensembl chr 5:169,988,553...170,004,069
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|
G
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Flnb
|
filamin B
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|
ISO ISS
|
ClinVar Annotator: match by term: Scoliosis, congenital with unilateral unsegmented bar | ClinVar Annotator: match by term: Spondylocarpotarsal synostosis syndrome | ClinVar Annotator: match by term: VERTEBRAL FUSION WITH CARPAL COALITION OMIM:272460 CTD Direct Evidence: marker/mechanism
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OMIM ClinVar MouseDO CTD RGD |
PMID:9536098 PMID:14991055 PMID:16752402 PMID:16801345 PMID:17576681 PMID:18257094 PMID:18322662 PMID:18386804 PMID:19085972 PMID:20301736 PMID:22190451 PMID:25741868 PMID:26380986 PMID:26491051 PMID:28492532 PMID:29566257 PMID:30712878 PMID:31836586 PMID:33407338 PMID:17635842 More...
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RGD:12791028 |
NCBI chr15:19,392,212...19,525,278
Ensembl chr15:19,392,216...19,525,209
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G
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Myh3
|
myosin heavy chain 3
|
|
ISO
|
ClinVar Annotator: match by term: Scoliosis, congenital with unilateral unsegmented bar | ClinVar Annotator: match by term: Spondylocarpotarsal synostosis syndrome
|
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29805041 PMID:32902138 PMID:33726816 PMID:34204301 PMID:34440395 PMID:35169139 More...
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NCBI chr10:52,269,185...52,293,000
Ensembl chr10:52,269,185...52,293,000
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G
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Dll3
|
delta like canonical Notch ligand 3
|
|
ISS ISO
|
OMIM:122600 | OMIM:277300 | OMIM:608681 | OMIM:609813 | OMIM:613686 ClinVar Annotator: match by term: Spondylocostal dysostosis
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MouseDO ClinVar |
|
|
NCBI chr 1:92,689,577...92,698,125
Ensembl chr 1:92,689,577...92,697,406
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G
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Hes7
|
hes family bHLH transcription factor 7
|
|
ISS
|
OMIM:122600 | OMIM:277300 | OMIM:608681 | OMIM:609813 | OMIM:613686
|
MouseDO |
|
|
NCBI chr10:54,322,971...54,327,776
Ensembl chr10:54,322,971...54,327,776
|
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G
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Mesp2
|
mesoderm posterior bHLH transcription factor 2
|
|
ISO
|
ClinVar Annotator: match by term: Spondylocostal dysostosis
|
ClinVar |
PMID:25741868 |
|
NCBI chr 1:143,165,914...143,168,520
Ensembl chr 1:143,165,849...143,168,511
|
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G
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Ripply2
|
ripply transcriptional repressor 2
|
|
ISS
|
OMIM:122600 | OMIM:277300 | OMIM:608681 | OMIM:609813 | OMIM:613686
|
MouseDO |
|
|
NCBI chr 8:96,854,393...96,858,963
Ensembl chr 8:96,854,508...96,858,963
|
|
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G
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Dll3
|
delta like canonical Notch ligand 3
|
|
ISO
|
ClinVar Annotator: match by term: DLL3-related disorder | ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive
|
OMIM ClinVar |
PMID:2805381 PMID:10742114 PMID:12746394 PMID:12791036 PMID:15200511 PMID:15717203 PMID:16199547 PMID:17041936 PMID:18485326 PMID:25741868 PMID:28492532 PMID:29459493 More...
|
|
NCBI chr 1:92,689,577...92,698,125
Ensembl chr 1:92,689,577...92,697,406
|
|
G
|
Mesp2
|
mesoderm posterior bHLH transcription factor 2
|
|
ISO
|
ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive | ClinVar Annotator: match by term: Spondylothoracic Dysostosis
|
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:143,165,914...143,168,520
Ensembl chr 1:143,165,849...143,168,511
|
|
G
|
Plekhg2
|
pleckstrin homology and RhoGEF domain containing G2
|
|
ISO
|
ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive
|
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:92,779,449...92,792,610
Ensembl chr 1:92,779,449...92,792,610
|
|
G
|
Ripply2
|
ripply transcriptional repressor 2
|
|
ISO
|
ClinVar Annotator: match by term: Spondylothoracic Dysostosis
|
ClinVar |
PMID:25343988 PMID:28492532 |
|
NCBI chr 8:96,854,393...96,858,963
Ensembl chr 8:96,854,508...96,858,963
|
|
|
G
|
Hes7
|
hes family bHLH transcription factor 7
|
|
ISO
|
ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive
|
ClinVar |
PMID:18775957 |
|
NCBI chr10:54,322,971...54,327,776
Ensembl chr10:54,322,971...54,327,776
|
|
G
|
Lfng
|
LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
|
|
ISO
|
ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive
|
ClinVar |
PMID:16385447 |
|
NCBI chr12:19,144,474...19,152,951
Ensembl chr12:19,124,662...19,152,918
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G
|
Mesp2
|
mesoderm posterior bHLH transcription factor 2
|
|
ISO
|
ClinVar Annotator: match by term: MESP2-related condition | ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive
|
OMIM ClinVar |
PMID:9242490 PMID:15122512 PMID:18485326 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32572506 More...
|
|
NCBI chr 1:143,165,914...143,168,520
Ensembl chr 1:143,165,849...143,168,511
|
|
G
|
Ripply2
|
ripply transcriptional repressor 2
|
|
ISO
|
ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive
|
ClinVar |
PMID:25343988 PMID:25741868 PMID:28492532 |
|
NCBI chr 8:96,854,393...96,858,963
Ensembl chr 8:96,854,508...96,858,963
|
|
G
|
Tbx6
|
T-box transcription factor 6
|
|
ISO
|
ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive
|
ClinVar |
PMID:20503311 PMID:23335591 |
|
NCBI chr 1:190,818,397...190,823,824
Ensembl chr 1:190,819,229...190,823,138
|
|
|
G
|
Brat1
|
BRCA1-associated ATM activator 1
|
|
ISO
|
ClinVar Annotator: match by term: Spondylocostal dysostosis 3, autosomal recessive
|
ClinVar |
PMID:28492532 |
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NCBI chr12:19,043,004...19,065,686
Ensembl chr12:19,042,591...19,055,369
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G
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Lfng
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LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
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ISO
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ClinVar Annotator: match by term: LFNG-related condition | ClinVar Annotator: match by term: Spondylocostal dysostosis 3, autosomal recessive
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OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:16385447 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29459493 PMID:30531807 More...
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NCBI chr12:19,144,474...19,152,951
Ensembl chr12:19,124,662...19,152,918
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G
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Hes7
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hes family bHLH transcription factor 7
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ISO
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ClinVar Annotator: match by term: HES7-related condition | ClinVar Annotator: match by term: Spondylocostal dysostosis 4, autosomal recessive
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OMIM ClinVar |
PMID:18775957 PMID:20087400 PMID:23897666 PMID:25741868 PMID:28492532 |
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NCBI chr10:54,322,971...54,327,776
Ensembl chr10:54,322,971...54,327,776
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G
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Aldoa
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aldolase, fructose-bisphosphate A
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ISO
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ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
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ClinVar |
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 |
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NCBI chr 1:190,832,820...190,838,021
Ensembl chr 1:190,832,820...190,838,211
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G
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Aldoart2
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aldolase 1 A retrogene 2
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ISO
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ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES
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ClinVar |
PMID:25741868 |
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NCBI chr 6:78,674,945...78,676,635
Ensembl chr 6:78,673,353...78,680,406
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G
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Asphd1
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aspartate beta-hydroxylase domain containing 1
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ISO
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ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
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ClinVar |
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 |
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NCBI chr 1:190,983,506...190,987,440
Ensembl chr 1:190,983,506...190,987,440
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G
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C1h16orf54
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similar to human chromosome 16 open reading frame 54
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ISO
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ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
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ClinVar |
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 |
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NCBI chr 1:191,132,972...191,135,653
Ensembl chr 1:191,132,030...191,135,910
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G
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C1h16orf92
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similar to human chromosome 16 open reading frame 92
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ISO
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ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
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ClinVar |
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 |
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NCBI chr 1:190,870,546...190,871,557
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G
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Cdipt
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CDP-diacylglycerol--inositol 3-phosphatidyltransferase
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ISO
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ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
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ClinVar |
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 |
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NCBI chr 1:191,013,632...191,017,943
Ensembl chr 1:191,013,463...191,017,971
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G
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Cdiptos
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CDIP transferase, opposite strand
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ISO
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ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES
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ClinVar |
PMID:25741868 |
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NCBI chr 1:181,579,385...181,583,017
Ensembl chr 1:191,009,919...191,013,275
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G
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Coro1a
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coronin 1A
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ISO
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ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
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ClinVar |
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 |
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NCBI chr 1:190,726,129...190,731,133
Ensembl chr 1:190,726,130...190,731,102
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G
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Doc2a
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double C2 domain alpha
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ISO
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ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
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ClinVar |
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 |
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NCBI chr 1:190,887,306...190,893,057
Ensembl chr 1:190,888,214...190,893,384
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G
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Gdpd3
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glycerophosphodiester phosphodiesterase domain containing 3
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ISO
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ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
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ClinVar |
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 |
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NCBI chr 1:190,804,053...190,813,609
Ensembl chr 1:190,803,993...190,813,606
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G
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Hirip3
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HIRA interacting protein 3
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ISO
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ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
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ClinVar |
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 |
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NCBI chr 1:190,903,065...190,905,610
Ensembl chr 1:190,902,593...190,905,607
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G
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Ino80e
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INO80 complex subunit E
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ISO
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ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
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ClinVar |
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 |
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NCBI chr 1:190,891,315...190,902,902
Ensembl chr 1:190,891,936...190,902,541
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G
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Kctd13
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potassium channel tetramerization domain containing 13
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ISO
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ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
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ClinVar |
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 |
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NCBI chr 1:190,965,073...190,983,381
Ensembl chr 1:190,965,075...190,985,419
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G
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Kif22
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kinesin family member 22
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ISO
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ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
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ClinVar |
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 |
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NCBI chr 1:191,065,875...191,080,955
Ensembl chr 1:191,065,875...191,080,878
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G
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Mapk3
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mitogen activated protein kinase 3
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ISO
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ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
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ClinVar |
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 |
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NCBI chr 1:190,797,189...190,803,411
Ensembl chr 1:190,797,185...190,803,411
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G
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Maz
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MYC associated zinc finger protein
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ISO
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ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
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ClinVar |
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 |
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NCBI chr 1:191,060,271...191,065,722
Ensembl chr 1:191,060,280...191,065,339
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G
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Mesp2
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mesoderm posterior bHLH transcription factor 2
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ISO
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ClinVar Annotator: match by term: Spondylothoracic Dysostosis
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:143,165,914...143,168,520
Ensembl chr 1:143,165,849...143,168,511
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G
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Mvp
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major vault protein
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ISO
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ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
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ClinVar |
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 |
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NCBI chr 1:191,025,259...191,052,866
Ensembl chr 1:191,025,268...191,052,873
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G
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Pagr1
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Paxip1-associated glutamate-rich protein 1
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ISO
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ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
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ClinVar |
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 |
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NCBI chr 1:191,053,228...191,055,554
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G
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Ppp4c
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protein phosphatase 4, catalytic subunit
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ISO
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ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
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ClinVar |
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 |
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NCBI chr 1:190,823,447...190,830,247
Ensembl chr 1:190,823,486...190,830,168
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G
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Prrt2
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proline-rich transmembrane protein 2
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ISO
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ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
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ClinVar |
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 |
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NCBI chr 1:191,054,962...191,059,632
Ensembl chr 1:191,053,050...191,059,414
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G
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Qprt
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quinolinate phosphoribosyltransferase
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ISO
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ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
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ClinVar |
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 |
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NCBI chr 1:191,148,715...191,164,006
Ensembl chr 1:191,148,713...191,194,162
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G
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Ripply2
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ripply transcriptional repressor 2
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ISO
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ClinVar Annotator: match by term: Spondylothoracic Dysostosis
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ClinVar |
PMID:25343988 PMID:28492532 |
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NCBI chr 8:96,854,393...96,858,963
Ensembl chr 8:96,854,508...96,858,963
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G
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Sez6l2
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seizure related 6 homolog like 2
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ISO
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ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
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ClinVar |
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 |
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NCBI chr 1:190,987,647...191,007,990
Ensembl chr 1:190,988,055...191,007,973
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G
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Spn
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sialophorin
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ISO
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ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
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ClinVar |
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 |
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NCBI chr 1:191,177,449...191,190,115
Ensembl chr 1:191,178,096...191,187,852
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G
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Taok2
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TAO kinase 2
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ISO
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ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
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ClinVar |
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 |
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NCBI chr 1:190,906,236...190,925,359
Ensembl chr 1:190,906,239...190,925,140
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G
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Tbx6
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T-box transcription factor 6
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ISO
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ClinVar Annotator: match by term: Spondylocostal dysostosis 5 | ClinVar Annotator: match by term: TBX6-related condition
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OMIM ClinVar |
PMID:20503311 PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 PMID:27861764 PMID:28054739 PMID:28492532 PMID:28990171 PMID:30636772 PMID:31015262 PMID:31471994 PMID:35846898 PMID:36112137 PMID:36161696 More...
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NCBI chr 1:190,818,397...190,823,824
Ensembl chr 1:190,819,229...190,823,138
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G
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Tlcd3b
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TLC domain containing 3B
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ISO
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ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
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ClinVar |
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 |
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NCBI chr 1:190,851,582...190,870,278
Ensembl chr 1:190,835,208...190,870,277
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G
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Tmem219
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transmembrane protein 219
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ISO
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ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
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ClinVar |
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 |
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NCBI chr 1:190,926,722...190,965,044
Ensembl chr 1:190,926,722...190,958,912
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G
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Ypel3
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yippee-like 3
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ISO
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ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
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ClinVar |
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 |
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NCBI chr 1:190,814,920...190,818,248
Ensembl chr 1:190,814,512...190,818,251
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G
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Zg16
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zymogen granule protein 16
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ISO
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ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
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ClinVar |
PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 |
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NCBI chr 1:191,088,248...191,090,605
Ensembl chr 1:191,088,248...191,090,605
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G
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Ripply2
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ripply transcriptional repressor 2
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ISO
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ClinVar Annotator: match by term: RIPPLY2-related condition | ClinVar Annotator: match by term: Spondylocostal dysostosis 6, autosomal recessive
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OMIM ClinVar |
PMID:25343988 PMID:25741868 PMID:28492532 |
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NCBI chr 8:96,854,393...96,858,963
Ensembl chr 8:96,854,508...96,858,963
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G
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Dll3
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delta like canonical Notch ligand 3
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
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NCBI chr 1:92,689,577...92,698,125
Ensembl chr 1:92,689,577...92,697,406
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G
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Hes7
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hes family bHLH transcription factor 7
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
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NCBI chr10:54,322,971...54,327,776
Ensembl chr10:54,322,971...54,327,776
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G
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Lfng
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LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
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NCBI chr12:19,144,474...19,152,951
Ensembl chr12:19,124,662...19,152,918
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G
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Mesp2
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mesoderm posterior bHLH transcription factor 2
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
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NCBI chr 1:143,165,914...143,168,520
Ensembl chr 1:143,165,849...143,168,511
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G
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Ripply2
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ripply transcriptional repressor 2
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
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NCBI chr 8:96,854,393...96,858,963
Ensembl chr 8:96,854,508...96,858,963
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G
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Ankfn1
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ankyrin-repeat and fibronectin type III domain containing 1
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ISO
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ClinVar Annotator: match by term: Stapes ankylosis with broad thumbs and toes
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ClinVar |
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NCBI chr10:74,711,284...75,099,954
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G
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Nog
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noggin
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ISO
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ClinVar Annotator: match by term: Stapes ankylosis with broad thumbs and toes
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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...
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NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,625,875...74,628,103
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G
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Zic1
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Zic family member 1
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ISO
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ClinVar Annotator: match by term: Structural brain anomalies with impaired intellectual development and craniosynostosis
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OMIM ClinVar |
PMID:25741868 PMID:26340333 PMID:30391508 |
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NCBI chr 8:100,785,282...100,797,716
Ensembl chr 8:100,787,789...100,792,427
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G
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Aggf1
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angiogenic factor with G patch and FHA domains 1
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ISO
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ClinVar Annotator: match by term: Non-syndromic syndactyly
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ClinVar |
PMID:25741868 |
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NCBI chr 2:28,354,073...28,380,794
Ensembl chr 2:28,354,073...28,380,759
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G
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Cdh20
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cadherin 20
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ISO
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ClinVar Annotator: match by term: Non-syndromic syndactyly
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ClinVar |
PMID:25741868 |
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NCBI chr13:21,252,272...21,583,526
Ensembl chr13:21,515,123...21,584,349
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G
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Cibar1
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CBY1 interacting BAR domain containing 1
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:30395363 |
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NCBI chr 5:30,411,325...30,429,770
Ensembl chr 5:30,410,511...30,429,893
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G
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Csnk2b
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casein kinase 2 beta
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ISO
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ClinVar Annotator: match by term: Syndactyly
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ClinVar |
PMID:25741868 PMID:28492532 PMID:33644862 PMID:34041744 PMID:35571680 |
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NCBI chr20:3,704,833...3,709,999
Ensembl chr20:3,704,904...3,710,525
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G
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Dll3
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delta like canonical Notch ligand 3
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ISO
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ClinVar Annotator: match by term: Syndactyly
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ClinVar |
PMID:15717203 PMID:17041936 PMID:18485326 PMID:25741868 PMID:28492532 PMID:29459493 More...
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NCBI chr 1:92,689,577...92,698,125
Ensembl chr 1:92,689,577...92,697,406
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G
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Fbn2
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fibrillin 2
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ISO
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RGD |
PMID:11285249 |
RGD:1300320 |
NCBI chr18:53,696,197...53,901,992
Ensembl chr18:53,697,708...53,902,191
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G
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Fzd4
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frizzled class receptor 4
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:17103440 |
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NCBI chr 1:152,692,507...152,701,372
Ensembl chr 1:152,692,507...152,701,372
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G
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Gdf5
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growth differentiation factor 5
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ISO
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DNA:insertion:cds:
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RGD |
PMID:18984342 |
RGD:12738203 |
NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:164,914,401...164,918,593
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G
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Gja1
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gap junction protein, alpha 1
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ISO
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ClinVar Annotator: match by term: Syndactyly
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr20:36,302,490...36,315,010
Ensembl chr20:36,302,352...36,319,689
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G
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Gli3
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GLI family zinc finger 3
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ISO
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DNA:missense mutation:exon:p.H601R (c.1802A>G) (human) ClinVar Annotator: match by term: polysyndactyly
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ClinVar RGD |
PMID:25267529 |
RGD:12738225 |
NCBI chr17:54,134,064...54,405,198
Ensembl chr17:54,134,064...54,405,198
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G
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Hoxd13
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homeo box D13
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
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NCBI chr 3:79,978,077...79,981,393
Ensembl chr 3:79,978,076...79,981,393
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G
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Iqce
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IQ motif containing E
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ISO
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ClinVar Annotator: match by term: Syndactyly
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ClinVar |
PMID:25741868 PMID:28488682 PMID:31549751 PMID:35599849 |
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NCBI chr12:19,057,060...19,096,626
Ensembl chr12:19,056,307...19,096,624
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G
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Irf6
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interferon regulatory factor 6
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ISO
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popliteal pterygium syndrome, OMIM:119500
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RGD |
PMID:12219090 |
RGD:1600214 |
NCBI chr13:107,200,876...107,220,083
Ensembl chr13:107,200,731...107,220,049
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G
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Jag2
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jagged canonical Notch ligand 2
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:9531541 |
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NCBI chr 6:137,804,133...137,826,738
Ensembl chr 6:137,804,133...137,826,738
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G
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Lrp2
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LDL receptor related protein 2
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ISO
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ClinVar Annotator: match by term: Non-syndromic syndactyly
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:74,597,148...74,754,535
Ensembl chr 3:74,597,148...74,754,535
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G
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Lrp4
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LDL receptor related protein 4
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:16207730 |
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NCBI chr 3:97,885,373...97,939,366
Ensembl chr 3:97,885,400...97,939,370
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G
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Nedd4l
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NEDD4 like E3 ubiquitin protein ligase
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:27694961 |
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NCBI chr18:60,663,918...60,996,824
Ensembl chr18:60,663,970...60,996,824
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G
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Plekhg2
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pleckstrin homology and RhoGEF domain containing G2
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ISO
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ClinVar Annotator: match by term: Syndactyly
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:92,779,449...92,792,610
Ensembl chr 1:92,779,449...92,792,610
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G
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Rab19
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RAB19, member RAS oncogene family
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ISO
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ClinVar Annotator: match by term: Non-syndromic syndactyly
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ClinVar |
PMID:25741868 |
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NCBI chr 4:69,123,962...69,133,691
Ensembl chr 4:69,123,924...69,134,383
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G
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Ihh
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Indian hedgehog signaling molecule
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ISO
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DNA:duplications
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RGD |
PMID:21167467 |
RGD:12910956 |
NCBI chr 9:83,952,986...83,959,203
Ensembl chr 9:83,952,986...83,959,203
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G
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Nhej1
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nonhomologous end-joining factor 1
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ISO
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ClinVar Annotator: match by term: Syndactyly type 1
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ClinVar |
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NCBI chr 9:83,974,995...84,071,161
Ensembl chr 9:83,974,997...84,070,594
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G
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Gja1
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gap junction protein, alpha 1
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Syndactyly type 3
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OMIM CTD ClinVar |
PMID:2157843 PMID:11470490 PMID:14729836 PMID:15192806 PMID:18079109 PMID:21215473 PMID:22090377 PMID:22179534 PMID:23103513 PMID:23304551 PMID:23465283 PMID:25741868 PMID:28492532 More...
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NCBI chr20:36,302,490...36,315,010
Ensembl chr20:36,302,352...36,319,689
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G
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Lmbr1
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limb development membrane protein 1
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Syndactyly type 4
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OMIM CTD ClinVar |
PMID:1849351 PMID:18417549 PMID:19847792 |
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NCBI chr 4:6,649,824...6,820,525
Ensembl chr 4:6,649,821...6,822,238
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G
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Shh
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sonic hedgehog signaling molecule
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ISO
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DNA:duplication:enhancer
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RGD |
PMID:18417549 |
RGD:12801418 |
NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:7,687,846...7,697,901
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G
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Gja1
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gap junction protein, alpha 1
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ISO
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ClinVar Annotator: match by term: Syndactyly type 5
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ClinVar |
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NCBI chr20:36,302,490...36,315,010
Ensembl chr20:36,302,352...36,319,689
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G
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Hoxd13
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homeo box D13
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ISO
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ClinVar Annotator: match by term: Syndactyly type 5 | ClinVar Annotator: match by term: Syndactyly, type V DNA:missense mutation:exon:p.Q317R (c.950A>G) CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD RGD |
PMID:215242 PMID:9207113 PMID:15333588 PMID:16222680 PMID:17236141 PMID:24239177 PMID:25741868 PMID:28492532 PMID:17236141 More...
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RGD:12738470 |
NCBI chr 3:79,978,077...79,981,393
Ensembl chr 3:79,978,076...79,981,393
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G
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Fgf16
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fibroblast growth factor 16
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Syndactyly type 8
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OMIM CTD ClinVar |
PMID:23709756 PMID:24878828 |
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NCBI chr X:74,882,863...74,893,598
Ensembl chr X:74,882,995...74,944,246
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G
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Ccnq
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cyclin Q
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ISO
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ClinVar Annotator: match by term: Syndactyly-telecanthus-anogenital and renal malformations syndrome CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:8818947 PMID:18297069 PMID:25741868 PMID:36474027 |
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NCBI chr10:64,144,560...64,145,723
Ensembl chr10:64,144,555...64,145,911
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G
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Star
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steroidogenic acute regulatory protein
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ISO
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ClinVar Annotator: match by term: Syndactyly-telecanthus-anogenital and renal malformations syndrome
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ClinVar |
PMID:8948562 PMID:16968793 PMID:18729825 PMID:21647419 PMID:23920000 PMID:25741868 PMID:26467025 PMID:26523528 PMID:28467518 PMID:28492532 More...
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NCBI chr16:72,969,824...72,974,447
Ensembl chr16:72,961,518...72,974,447
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G
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Hoxd13
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homeo box D13
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ISS ISO
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OMIM:186000 | OMIM:608180 | OMIM:610234 ClinVar Annotator: match by term: Synpolydactyly
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MouseDO ClinVar |
PMID:22233338 PMID:25741868 |
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NCBI chr 3:79,978,077...79,981,393
Ensembl chr 3:79,978,076...79,981,393
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G
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Chst11
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carbohydrate sulfotransferase 11
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ISO
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ClinVar Annotator: match by term: Synpolydactyly type 1
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ClinVar |
PMID:29514872 |
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NCBI chr 7:22,412,121...22,630,577
Ensembl chr 7:22,415,686...22,630,441
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G
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Evx2
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even-skipped homeobox 2
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ISO
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ClinVar Annotator: match by term: Synpolydactyly type 1
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ClinVar |
PMID:25741868 |
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NCBI chr 3:79,965,630...79,969,700
Ensembl chr 3:79,965,630...79,969,305
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G
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Hoxd13
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homeo box D13
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severity
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ISO
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DNA:duplication:CDS ClinVar Annotator: match by term: Synpolydactyly type 1 CTD Direct Evidence: marker/mechanism DNA:nonsense mutation:exon:p.R186X (c.556C¿¿¿>¿¿¿T) (human) DNA:insertion:exon DNA:missense mutation:exon:p.R298Q (c.893G>A) (human) DNA:missense mutation:exon:p.I314L (940A>C) (human) DNA:splice-site mutation:intron:c.781+1G>A (human) DNA:nonsense mutation:exon:p.Q248X (c.742C>T) (human) DNA:missense mutation:exon:p.G220A (c.659G>C) (human)
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ClinVar OMIM CTD RGD |
PMID:215242 PMID:7666393 PMID:8620844 PMID:8817328 PMID:9207113 PMID:9758628 PMID:12414828 PMID:12900906 PMID:14698619 PMID:15333588 PMID:15917204 PMID:16222680 PMID:18399101 PMID:19060004 PMID:21814222 PMID:22233338 PMID:22373878 PMID:22374128 PMID:23948678 PMID:24055421 PMID:24239177 PMID:24789103 PMID:25741868 PMID:28492532 PMID:30408610 PMID:8817328 PMID:27254532 PMID:9207113 PMID:22374128 PMID:12620993 PMID:24055421 PMID:21814222 PMID:11543619 PMID:15952114 PMID:23948678 More...
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RGD:1599534, RGD:12743595, RGD:12743592, RGD:11098998, RGD:12738399, RGD:11098055, RGD:11098032, RGD:12738377, RGD:12738375, RGD:11098288 |
NCBI chr 3:79,978,077...79,981,393
Ensembl chr 3:79,978,076...79,981,393
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G
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Fbln1
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fibulin 1
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: FBLN1-related condition | ClinVar Annotator: match by term: SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES
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OMIM CTD ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:118,190,347...118,269,965
Ensembl chr 7:118,190,478...118,269,965
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G
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Nog
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noggin
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ISO
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ClinVar Annotator: match by term: Tarsal-carpal coalition syndrome CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:c.682T>G (p.C228G)(human)
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OMIM ClinVar CTD RGD |
PMID:4019538 PMID:7557985 PMID:10080184 PMID:11545688 PMID:16576087 PMID:17668388 PMID:25741868 PMID:28492532 PMID:29159868 PMID:26211601 More...
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RGD:12801450 |
NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,625,875...74,628,103
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G
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Chsy1
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chondroitin sulfate synthase 1
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CHSY1-related condition | ClinVar Annotator: match by term: Temtamy preaxial brachydactyly syndrome
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OMIM CTD ClinVar |
PMID:9823490 PMID:19952732 PMID:21129727 PMID:21129728 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr 1:129,100,088...129,161,167
Ensembl chr 1:129,100,041...129,161,081
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G
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Cacna1c
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calcium voltage-gated channel subunit alpha1 C
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ISO ISS
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DNA:missense mutations:exon:p.G406R, p.G402S (human) ClinVar Annotator: match by term: CACNA1C-related disorder | ClinVar Annotator: match by term: Timothy syndrome | ClinVar Annotator: match by term: Timothy syndrome type 1 ClinVar Annotator: match by term: CACNA1C-related disorder | ClinVar Annotator: match by term: Long QT syndrome with syndactyly | ClinVar Annotator: match by term: Timothy syndrome | ClinVar Annotator: match by term: Timothy syndrome type 1 OMIM:601005 CTD Direct Evidence: marker/mechanism
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ClinVar MouseDO CTD OMIM RGD |
PMID:9536098 PMID:10343407 PMID:12166659 PMID:15454078 PMID:15863612 PMID:16199547 PMID:16360093 PMID:17224476 PMID:17576681 PMID:18250309 PMID:19074970 PMID:19225208 PMID:20031608 PMID:20543828 PMID:20817017 PMID:21307850 PMID:21685391 PMID:21878566 PMID:21910241 PMID:22020278 PMID:22106044 PMID:22581653 PMID:22584458 PMID:22840528 PMID:22990809 PMID:23313911 PMID:23414114 PMID:23575362 PMID:23578275 PMID:23580742 PMID:23631430 PMID:23678275 PMID:23690510 PMID:23861362 PMID:24033266 PMID:24183960 PMID:24439875 PMID:24690944 PMID:24728418 PMID:24981977 PMID:25184293 PMID:25260352 PMID:25333069 PMID:25341504 PMID:25447171 PMID:25500949 PMID:25633834 PMID:25637381 PMID:25661095 PMID:25691416 PMID:25741868 PMID:26159999 PMID:26220970 PMID:26227324 PMID:26230511 PMID:26253506 PMID:26383259 PMID:26386135 PMID:26498160 PMID:26637798 PMID:26822303 PMID:27218670 PMID:27231019 PMID:27502440 PMID:27593853 PMID:27662471 PMID:27711072 PMID:27868338 PMID:27920829 PMID:27925203 PMID:27930701 PMID:28211989 PMID:28341588 PMID:28371864 PMID:28492532 PMID:28518168 PMID:28600387 PMID:28616568 PMID:28704380 PMID:28750076 PMID:29046645 PMID:29071820 PMID:29247119 PMID:29568937 PMID:29915097 PMID:30023270 PMID:30025578 PMID:30172029 PMID:30279520 PMID:30345660 PMID:30471092 PMID:30513141 PMID:30662450 PMID:30847666 PMID:30984024 PMID:31004778 PMID:31110529 PMID:31293105 PMID:31335548 PMID:31408100 PMID:31430211 PMID:31453089 PMID:31539150 PMID:31737537 PMID:32145446 PMID:32161207 PMID:32233023 PMID:32461654 PMID:32625235 PMID:33488405 PMID:34163037 PMID:34222376 PMID:34495297 PMID:34999275 PMID:36007726 PMID:36474027 PMID:37227348 PMID:37901857 PMID:15863612 More...
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RGD:1580173 |
NCBI chr 4:153,431,169...154,051,932
Ensembl chr 4:153,436,427...154,051,762
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G
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Polr1b
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RNA polymerase I subunit B
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ISO
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ClinVar Annotator: match by term: Treacher Collins syndrome
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ClinVar |
PMID:31649276 |
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NCBI chr 3:136,787,130...136,811,608
Ensembl chr 3:136,787,107...136,811,607
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G
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Polr1d
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RNA polymerase I and III subunit D
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ISO
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ClinVar Annotator: match by term: Treacher Collins syndrome
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ClinVar |
PMID:24603435 |
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NCBI chr12:13,084,505...13,118,069
Ensembl chr12:13,084,512...13,095,627
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G
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Tcof1
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treacle ribosome biogenesis factor 1
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ISO ISS
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ClinVar Annotator: match by term: Treacher Collins Syndrome, Dominant | ClinVar Annotator: match by term: Treacher Collins syndrome OMIM:154500 | OMIM:248390 | OMIM:613717
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ClinVar MouseDO RGD |
PMID:8894686 PMID:22317976 PMID:25741868 PMID:28492532 PMID:9096354 |
RGD:1599379 |
NCBI chr18:56,537,437...56,570,727
Ensembl chr18:56,537,437...56,570,727
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G
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Tcof1
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treacle ribosome biogenesis factor 1
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ISO
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ClinVar Annotator: match by term: TCOF1-related condition | ClinVar Annotator: match by term: Treacher Collins syndrome 1
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OMIM ClinVar |
PMID:8563749 PMID:8894686 PMID:9042910 PMID:9096354 PMID:9536098 PMID:9736782 PMID:9811939 PMID:10982400 PMID:11013442 PMID:12114482 PMID:12444270 PMID:14598341 PMID:15150774 PMID:15214011 PMID:15340364 PMID:16199547 PMID:17576681 PMID:19050407 PMID:20003452 PMID:20301704 PMID:21951868 PMID:22317976 PMID:23967202 PMID:24108658 PMID:24994558 PMID:25741868 PMID:25790162 PMID:26467025 PMID:28065470 PMID:28419064 PMID:28492532 PMID:29230583 PMID:30311386 PMID:31307516 PMID:32257192 PMID:32909271 PMID:33332773 More...
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NCBI chr18:56,537,437...56,570,727
Ensembl chr18:56,537,437...56,570,727
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G
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Polr1d
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RNA polymerase I and III subunit D
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ISO
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ClinVar Annotator: match by term: POLR1D-related condition | ClinVar Annotator: match by term: Treacher Collins syndrome 2
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OMIM ClinVar |
PMID:21131976 PMID:24603435 PMID:25741868 PMID:28492532 PMID:34397304 |
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NCBI chr12:13,084,505...13,118,069
Ensembl chr12:13,084,512...13,095,627
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G
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Polr1c
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RNA polymerase I and III subunit C
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ISO
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ClinVar Annotator: match by term: Treacher Collins Syndrome, Recessive | ClinVar Annotator: match by term: Treacher Collins syndrome 3 CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
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:33176815 PMID:33597727 PMID:33804237 PMID:33888711 PMID:34645491 PMID:35012964 More...
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NCBI chr 9:22,233,318...22,237,430
Ensembl chr 9:22,233,305...22,237,428
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G
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Slc35b2
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solute carrier family 35 member B2
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ISO
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ClinVar Annotator: match by term: Treacher Collins syndrome 3
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ClinVar |
PMID:25741868 |
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NCBI chr 9:22,936,031...22,940,114
Ensembl chr 9:22,935,887...22,939,793
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G
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Polr1b
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RNA polymerase I subunit B
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ISO
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ClinVar Annotator: match by term: POLR1B-related condition | ClinVar Annotator: match by term: Treacher Collins syndrome 4
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OMIM ClinVar |
PMID:25741868 PMID:31649276 |
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NCBI chr 3:136,787,130...136,811,608
Ensembl chr 3:136,787,107...136,811,607
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G
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Fgfr1
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Fibroblast growth factor receptor 1
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ISO
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ClinVar Annotator: match by term: Trigonocephaly 1
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OMIM ClinVar |
PMID:1456217 PMID:7795583 PMID:7874169 PMID:9536098 PMID:10629055 PMID:10861678 PMID:10942429 PMID:11173846 PMID:12627230 PMID:14513299 PMID:14564217 PMID:14613973 PMID:15365636 PMID:15605412 PMID:15793702 PMID:16199547 PMID:16764984 PMID:16957473 PMID:17154279 PMID:17360555 PMID:17530415 PMID:17576681 PMID:17963255 PMID:18034870 PMID:18160472 PMID:18985070 PMID:19707180 PMID:20696889 PMID:22378383 PMID:23329143 PMID:23348397 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:27363716 PMID:27884173 PMID:28492532 PMID:31200363 PMID:31837199 PMID:32724172 PMID:37805574 More...
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NCBI chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855
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G
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Frem1
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Fras1 related extracellular matrix 1
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ISO
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ClinVar Annotator: match by term: Trigonocephaly 2
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OMIM ClinVar |
PMID:9536098 PMID:11332973 PMID:16199547 PMID:17576681 PMID:19732862 PMID:21507892 PMID:21931569 PMID:23333812 PMID:25741868 PMID:26893459 PMID:28492532 More...
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NCBI chr 5:102,367,201...102,515,464
Ensembl chr 5:102,367,201...102,515,404
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G
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Rp1l1
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RP1 like 1
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ISO
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ClinVar Annotator: match by term: Ulnar/fibular ray defect and brachydactyly
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ClinVar |
PMID:28492532 |
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NCBI chr15:42,435,803...42,447,165
Ensembl chr15:42,435,803...42,447,165
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G
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Evc
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EvC ciliary complex subunit 1
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ISO
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ClinVar Annotator: match by term: Curry-Hall syndrome | ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:7628126 PMID:7635486 PMID:9536098 PMID:10700184 PMID:16199547 PMID:17024374 PMID:17576681 PMID:18947413 PMID:19251731 PMID:19810119 PMID:19876929 PMID:23220543 PMID:24431330 PMID:25500235 PMID:25741868 PMID:26621368 PMID:27453244 PMID:28492532 PMID:28714244 PMID:29068549 PMID:29321360 PMID:32234057 PMID:34006472 More...
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NCBI chr14:77,680,901...77,722,608
Ensembl chr14:77,680,943...77,723,100
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G
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Evc2
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EvC ciliary complex subunit 2
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ISO
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ClinVar Annotator: match by term: Curry-Hall syndrome | ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:9536098 PMID:12571802 PMID:16404586 PMID:17024374 PMID:17576681 PMID:18182642 PMID:19251731 PMID:19810119 PMID:19876929 PMID:23220543 PMID:25047945 PMID:25326635 PMID:25741868 PMID:26580685 PMID:28492532 PMID:29068549 More...
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NCBI chr14:77,591,581...77,679,286
Ensembl chr14:77,592,560...77,679,262
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G
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Smo
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smoothened, frizzled class receptor
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ISO
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ClinVar Annotator: match by term: Curry-Jones syndrome CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:3144990 PMID:7606318 PMID:16531740 PMID:18798318 PMID:24728327 PMID:25741868 PMID:27236920 PMID:28492532 More...
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NCBI chr 4:59,311,084...59,341,280
Ensembl chr 4:59,311,041...59,341,281
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