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G |
Adar |
adenosine deaminase, RNA-specific |
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ISO |
ClinVar Annotator: match by term: Scalp defect congenital |
ClinVar |
PMID:25741868 |
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NCBI chr 2:189,045,551...189,085,448
Ensembl chr 2:189,062,443...189,083,236
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G |
Arhgap31 |
Rho GTPase activating protein 31 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
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NCBI chr11:64,600,968...64,714,114
Ensembl chr11:64,601,029...64,714,252
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G |
Bms1 |
BMS1 ribosome biogenesis factor |
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ISO |
ClinVar Annotator: match by term: Scalp defect congenital |
ClinVar |
PMID:23785305 |
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NCBI chr 4:150,433,567...150,471,783
Ensembl chr 4:150,433,570...150,471,834
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G |
Dll4 |
delta like canonical Notch ligand 4 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:26299364 PMID:29924900 |
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NCBI chr 3:111,135,011...111,146,746
Ensembl chr 3:111,135,021...111,145,986
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G |
Dock6 |
dedicator of cytokinesis 6 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adams-Oliver syndrome |
CTD ClinVar |
PMID:21820096 PMID:24033266 PMID:25558065 |
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NCBI chr 8:22,822,412...22,874,670
Ensembl chr 8:22,822,412...22,874,645
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G |
Eogt |
EGF domain specific O-linked N-acetylglucosamine transferase |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:23522784 PMID:25558065 |
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NCBI chr 4:129,477,779...129,515,435
Ensembl chr 4:129,477,807...129,515,435
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G |
Notch1 |
notch receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
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G |
Rbpj |
recombination signal binding protein for immunoglobulin kappa J region |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr14:59,657,738...59,865,427
Ensembl chr14:59,658,935...59,735,450
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G |
Arhgap31 |
Rho GTPase activating protein 31 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 1 |
OMIM ClinVar |
PMID:474617 PMID:16451141 PMID:21565291 PMID:25741868 PMID:28492532 PMID:29924900 |
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NCBI chr11:64,600,968...64,714,114
Ensembl chr11:64,601,029...64,714,252
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G |
Dock6 |
dedicator of cytokinesis 6 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 1 |
ClinVar |
PMID:25741868 PMID:26457590 PMID:29924900 |
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NCBI chr 8:22,822,412...22,874,670
Ensembl chr 8:22,822,412...22,874,645
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G |
Dock6 |
dedicator of cytokinesis 6 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 2 ClinVar Annotator: match by OMIM:614219 |
OMIM ClinVar |
PMID:8849019 PMID:17159513 PMID:21820096 PMID:23522784 PMID:25558065 PMID:25741868 PMID:25824905 PMID:26457590 PMID:28492532 PMID:28884918 PMID:29924900 PMID:30111349 |
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NCBI chr 8:22,822,412...22,874,670
Ensembl chr 8:22,822,412...22,874,645
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G |
Rbpj |
recombination signal binding protein for immunoglobulin kappa J region |
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ISO |
ClinVar Annotator: match by OMIM:614814 ClinVar Annotator: match by term: Adams-Oliver syndrome 3 |
OMIM ClinVar |
PMID:22883147 PMID:29924900 |
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NCBI chr14:59,657,738...59,865,427
Ensembl chr14:59,658,935...59,735,450
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G |
Eogt |
EGF domain specific O-linked N-acetylglucosamine transferase |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 4 ClinVar Annotator: match by OMIM:615297 |
OMIM ClinVar |
PMID:23522784 PMID:23860037 PMID:25558065 PMID:25741868 PMID:28492532 PMID:29924900 |
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NCBI chr 4:129,477,779...129,515,435
Ensembl chr 4:129,477,807...129,515,435
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G |
Camsap1 |
calmodulin regulated spectrin-associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:3,373,971...3,434,027
Ensembl chr 3:3,373,971...3,434,027
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G |
Card9 |
caspase recruitment domain family, member 9 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:3,798,346...3,806,841
Ensembl chr 3:3,798,347...3,806,713
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G |
Dnlz |
DNL-type zinc finger |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:3,796,480...3,798,467
Ensembl chr 3:3,796,480...3,798,239
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G |
Entr1 |
endosome associated trafficking regulator 1 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:3,827,498...3,834,219
Ensembl chr 3:3,827,498...3,834,210
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G |
Gpsm1 |
G-protein signaling modulator 1 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:3,767,394...3,794,360
Ensembl chr 3:3,767,394...3,794,359
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G |
Inpp5e |
inositol polyphosphate-5-phosphatase E |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:3,843,307...3,856,154
Ensembl chr 3:3,843,307...3,855,981
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G |
Kcnt1 |
potassium sodium-activated channel subfamily T member 1 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:3,310,641...3,366,558
Ensembl chr 3:3,310,954...3,365,340
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G |
Lhx3 |
LIM homeobox 3 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:3,653,861...3,662,509
Ensembl chr 3:3,654,755...3,661,810
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G |
Nacc2 |
NACC family member 2 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:3,508,084...3,574,787
Ensembl chr 3:3,510,041...3,574,787
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G |
Notch1 |
notch receptor 1 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar Annotator: match by OMIM:616028 |
OMIM ClinVar |
PMID:1621771 PMID:15959515 PMID:16729972 PMID:17662764 PMID:18593716 PMID:19597493 PMID:20007775 PMID:20951801 PMID:21457232 PMID:22307742 PMID:23102684 PMID:23578328 PMID:24033266 PMID:24113472 PMID:24728327 PMID:25132448 PMID:25260786 PMID:25500235 PMID:25587027 PMID:25741868 PMID:25907466 PMID:25931334 PMID:25963545 PMID:26188975 PMID:26699486 PMID:26708639 PMID:26820064 PMID:27760138 PMID:27989580 PMID:28387797 PMID:28492532 PMID:28991257 PMID:29907982 PMID:29924900 PMID:30059548 PMID:30115950 PMID:30311386 PMID:30609409 |
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NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
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G |
Pmpca |
peptidase, mitochondrial processing subunit alpha |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:3,834,262...3,842,061
Ensembl chr 3:3,834,078...3,842,078
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G |
Qsox2 |
quiescin sulfhydryl oxidase 2 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:3,662,324...3,691,972
Ensembl chr 3:3,662,324...3,691,972
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G |
Sec16a |
SEC16 homolog A, endoplasmic reticulum export factor |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:3,856,218...3,890,785
Ensembl chr 3:3,856,218...3,890,758
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G |
Snapc4 |
small nuclear RNA activating complex, polypeptide 4 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:3,808,596...3,827,425
Ensembl chr 3:3,809,407...3,824,284
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G |
Tmem250 |
transmembrane protein 250 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:3,590,783...3,594,475
Ensembl chr 3:3,590,783...3,594,475
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G |
Ubac1 |
UBA domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:19597493 PMID:28492532 |
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NCBI chr 3:3,453,396...3,476,242
Ensembl chr 3:3,453,401...3,476,215
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G |
Dll4 |
delta like canonical Notch ligand 4 |
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ISO |
ClinVar Annotator: match by term: ADAMS-OLIVER SYNDROME 6 ClinVar Annotator: match by term: Adams-Oliver syndrome 6 |
ClinVar OMIM |
PMID:25741868 PMID:26299364 PMID:29924900 PMID:32860008 |
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NCBI chr 3:111,135,011...111,146,746
Ensembl chr 3:111,135,021...111,145,986
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