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Armc9 |
armadillo repeat containing 9 |
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ISO |
ClinVar Annotator: match by term: Dandy-Walker syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28625504 PMID:31474318 |
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NCBI chr 9:86,802,791...86,928,611
Ensembl chr 9:86,802,868...86,928,860
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Bltp1 |
bridge-like lipid transfer protein family member 1 |
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ISO |
ClinVar Annotator: match by term: Dandy-Walker syndrome |
ClinVar |
PMID:25558065 PMID:25741868 |
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NCBI chr 2:119,708,114...119,924,697
Ensembl chr 2:119,708,209...119,924,695
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Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Dandy-Walker malformation |
ClinVar |
PMID:4386970 PMID:5771505 PMID:16372351 PMID:16523510 PMID:16804887 PMID:16825433 PMID:17551924 PMID:18039235 PMID:18413255 PMID:19206169 PMID:23875798 PMID:24033266 PMID:24283439 PMID:25741868 PMID:31474318 More...
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NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Chn1 |
chimerin 1 |
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ISO |
ClinVar Annotator: match by term: Dandy-Walker syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 3:58,509,822...58,676,462
Ensembl chr 3:58,510,536...58,676,490
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Dph1 |
diphthamide biosynthesis 1 |
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ISO |
ClinVar Annotator: match by term: Dandy-Walker syndrome |
ClinVar |
PMID:25558065 PMID:25741868 PMID:30877278 |
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NCBI chr10:60,028,081...60,039,764
Ensembl chr10:60,026,048...60,039,850
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Dpysl5 |
dihydropyrimidinase-like 5 |
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ISO |
ClinVar Annotator: match by term: Dandy-Walker syndrome |
ClinVar |
PMID:3812597 PMID:31474318 PMID:33894126 |
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NCBI chr 6:25,575,104...25,659,422
Ensembl chr 6:25,575,104...25,659,422
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Foxc1 |
forkhead box C1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19668217 |
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NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
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Hyls1 |
HYLS1, centriolar and ciliogenesis associated |
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ISO |
ClinVar Annotator: match by term: Dandy-Walker malformation |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30697592 PMID:31474318 |
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NCBI chr 8:33,912,692...33,921,760
Ensembl chr 8:33,912,692...33,921,760
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Ints1 |
integrator complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Dandy-Walker syndrome |
ClinVar |
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NCBI chr12:14,861,312...14,886,048
Ensembl chr12:14,861,318...14,886,037
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Kif1a |
kinesin family member 1A |
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ISO |
ClinVar Annotator: match by term: Dandy-Walker syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480
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Kmt2d |
lysine methyltransferase 2D |
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ISO |
ClinVar Annotator: match by term: Dandy-Walker syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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Maged2 |
MAGE family member D2 |
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ISO |
ClinVar Annotator: match by term: Dandy-Walker syndrome |
ClinVar |
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NCBI chr X:19,733,593...19,741,769
Ensembl chr X:19,733,597...19,740,477
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Mid1 |
midline 1 |
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ISO |
ClinVar Annotator: match by term: Dandy-Walker malformation |
ClinVar |
PMID:15121778 PMID:15558842 PMID:25741868 |
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NCBI chr X:24,116,674...24,491,205
Ensembl chr X:24,120,293...24,248,353
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Pdgfrb |
platelet derived growth factor receptor beta |
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ISO |
ClinVar Annotator: match by term: Dandy-Walker malformation |
ClinVar |
PMID:12181311 PMID:25292412 PMID:25741868 PMID:28334876 PMID:28639748 PMID:30941910 PMID:31004414 PMID:31474318 More...
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NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843
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Pibf1 |
progesterone immunomodulatory binding factor 1 |
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ISO |
ClinVar Annotator: match by term: Dandy-Walker syndrome |
ClinVar |
PMID:25741868 PMID:26167768 PMID:30858804 PMID:31474318 |
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NCBI chr15:75,850,389...76,019,711
Ensembl chr15:75,850,624...76,019,712
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Ppp1cb |
protein phosphatase 1 catalytic subunit beta |
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ISO |
ClinVar Annotator: match by term: Dandy-Walker malformation |
ClinVar |
PMID:25741868 PMID:25741869 PMID:27264673 PMID:27681385 PMID:27868344 PMID:28211982 PMID:28492532 PMID:30348783 PMID:31474318 PMID:33491856 More...
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NCBI chr 6:23,958,813...23,992,841
Ensembl chr 6:23,960,998...23,992,824
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Pus3 |
pseudouridine synthase 3 |
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ISO |
ClinVar Annotator: match by term: Dandy-Walker malformation |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30697592 PMID:31474318 |
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NCBI chr 8:33,910,461...33,918,716
Ensembl chr 8:33,911,357...33,918,714
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Setd2 |
SET domain containing 2, histone lysine methyltransferase |
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ISO |
ClinVar Annotator: match by term: Dandy-Walker syndrome |
ClinVar |
PMID:31474318 |
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NCBI chr 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489
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Tmem47 |
transmembrane protein 47 |
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ISO |
ClinVar Annotator: match by term: Dandy-Walker syndrome |
ClinVar |
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NCBI chr X:45,421,405...45,447,900
Ensembl chr X:45,421,405...45,447,900
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Tuba1a |
tubulin, alpha 1A |
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ISO |
ClinVar Annotator: match by term: Dandy-Walker syndrome |
ClinVar |
PMID:20466733 PMID:25741868 PMID:28492532 PMID:30744660 PMID:31474318 PMID:31628766 PMID:33077954 More...
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NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186
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Wfs1 |
wolframin ER transmembrane glycoprotein |
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ISO |
ClinVar Annotator: match by term: Dandy-Walker syndrome |
ClinVar |
PMID:10521293 PMID:17568405 PMID:18700423 PMID:20888932 PMID:25741868 PMID:28432734 PMID:28492532 More...
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NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
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Zfp423 |
zinc finger protein 423 |
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ISS |
OMIM:220200 |
MouseDO |
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NCBI chr19:19,111,213...19,407,373
Ensembl chr19:19,110,238...19,407,373
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Zic1 |
Zic family member 1 |
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ISO ISS |
OMIM:220200 |
MouseDO RGD |
PMID:15338008 |
RGD:1599905 |
NCBI chr 8:91,908,548...91,918,020
Ensembl chr 8:91,908,576...91,912,731
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Zic4 |
Zic family member 4 |
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ISS |
OMIM:220200 |
MouseDO |
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NCBI chr 8:91,916,356...91,936,525
Ensembl chr 8:91,920,015...91,935,368
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Nphp3 |
nephrocystin 3 |
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ISO |
ClinVar Annotator: match by term: Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia | ClinVar Annotator: match by term: Meckel syndrome type 7 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:12872122 PMID:17576681 PMID:17855640 PMID:18371931 PMID:19177160 PMID:19303681 PMID:20007846 PMID:21866095 PMID:23188109 PMID:23559409 PMID:24033266 PMID:24776604 PMID:25741868 PMID:26184788 PMID:26673778 PMID:27353947 PMID:27894351 PMID:28132693 PMID:28492532 PMID:28921755 PMID:28973083 PMID:30002499 PMID:31980526 PMID:32040628 PMID:32055034 PMID:32552793 PMID:33532864 More...
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NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
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Nphp3 |
nephrocystin 3 |
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ISO |
ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8874114 PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 PMID:17855640 PMID:18076122 PMID:18371931 PMID:19177160 PMID:19303681 PMID:20007846 PMID:21866095 PMID:23188109 PMID:23559409 PMID:24033266 PMID:24776604 PMID:25741868 PMID:26184788 PMID:26673778 PMID:27353947 PMID:27894351 PMID:28132693 PMID:28492532 PMID:28921755 PMID:28973083 PMID:30002499 PMID:30586318 PMID:31131822 PMID:31980526 PMID:32040628 PMID:32055034 PMID:32173348 PMID:32552793 PMID:33323469 PMID:33532864 PMID:34031707 PMID:34212438 More...
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NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
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Ccdc22 |
coiled-coil domain containing 22 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr X:14,898,296...14,910,244
Ensembl chr X:14,898,296...14,910,244
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Vps35l |
VPS35 endosomal protein sorting factor like |
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ISO |
ClinVar Annotator: match by term: 3C syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 1:173,076,219...173,179,663
Ensembl chr 1:173,076,099...173,180,610
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Washc5 |
WASH complex subunit 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 7:90,884,192...90,936,096
Ensembl chr 7:90,884,197...90,936,103
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Ccdc22 |
coiled-coil domain containing 22 |
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ISO |
ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 |
ClinVar |
PMID:19377476 PMID:21826058 PMID:31971710 |
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NCBI chr X:14,898,296...14,910,244
Ensembl chr X:14,898,296...14,910,244
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Dpysl5 |
dihydropyrimidinase-like 5 |
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ISO |
ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 |
ClinVar |
PMID:3812597 PMID:31474318 PMID:33894126 |
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NCBI chr 6:25,575,104...25,659,422
Ensembl chr 6:25,575,104...25,659,422
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Washc5 |
WASH complex subunit 5 |
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ISO |
ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 |
OMIM ClinVar |
PMID:7604842 PMID:24065355 PMID:24824269 PMID:25741868 PMID:26467025 PMID:27957547 PMID:28492532 PMID:31971710 More...
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NCBI chr 7:90,884,192...90,936,096
Ensembl chr 7:90,884,197...90,936,103
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Ccdc22 |
coiled-coil domain containing 22 |
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ISO |
ClinVar Annotator: match by term: CCDC22-related condition | ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 2 |
OMIM ClinVar |
PMID:19377476 PMID:21826058 PMID:23563313 PMID:24916641 PMID:25644381 PMID:25741868 PMID:28492532 PMID:31971710 More...
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NCBI chr X:14,898,296...14,910,244
Ensembl chr X:14,898,296...14,910,244
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Vps35l |
VPS35 endosomal protein sorting factor like |
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ISO |
ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 3 |
OMIM ClinVar |
PMID:25741868 PMID:31712251 PMID:36113987 |
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NCBI chr 1:173,076,219...173,179,663
Ensembl chr 1:173,076,099...173,180,610
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Dpysl5 |
dihydropyrimidinase-like 5 |
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ISO |
ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 4 |
OMIM ClinVar |
PMID:3812597 PMID:25741868 PMID:31474318 PMID:33894126 |
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NCBI chr 6:25,575,104...25,659,422
Ensembl chr 6:25,575,104...25,659,422
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Ap1s2 |
adaptor related protein complex 1 subunit sigma 2 |
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ISO ISS |
OMIM:304340 ClinVar Annotator: match by term: Pettigrew syndrome CTD Direct Evidence: marker/mechanism |
OMIM MouseDO ClinVar CTD |
PMID:2018058 PMID:5054319 PMID:10398241 PMID:12599187 PMID:17186471 PMID:17617514 PMID:18414213 PMID:18428203 PMID:23756445 PMID:25741868 PMID:33847015 More...
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NCBI chr X:30,572,746...30,598,961
Ensembl chr X:30,572,751...30,597,262
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Cul4b |
cullin 4B |
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ISO |
ClinVar Annotator: match by term: Pettigrew syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr X:117,287,481...117,326,688
Ensembl chr X:117,287,484...117,326,688
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