RGD DISEASE ONTOLOGY - ANNOTATIONS |
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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Term: | chromosomal duplication syndrome |
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Accession: | DOID:0060429
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browse the term
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Definition: | A chromosomal disease that has_material_basis_in extra copies of a chromosomal region. (DO) |
Synonyms: | exact_synonym: | Chromosomal Duplication; Chromosome Duplication; chromosomal duplications; chromosome duplications |
| primary_id: | MESH:D058674 |
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Fgfr1 |
Fibroblast growth factor receptor 1 |
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ISO |
DNA:missense mutation: :p.P252R (human) |
RGD |
PMID:7874169 PMID:25251565 |
RGD:11567243, RGD:11567271 |
NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
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Fgfr2 |
fibroblast growth factor receptor 2 |
severity treatment |
ISO |
ClinVar Annotator: match by term: Acrocephalosyndactyly type I | ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly | ClinVar Annotator: match by term: Craniofacial-skeletal-dermatologic dysplasia | ClinVar Annotator: match by term: Syndactylic oxycephaly ClinVar Annotator: match by term: Acrocephalosyndactyly type I | ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly | ClinVar Annotator: match by term: Syndactylic oxycephaly DNA:missense mutation:cds:p.P253R (human) DNA:missense mutation:cds:p.A172F (human) DNA:missense mutations:cds:p.S252W, p.P253R (human) CTD Direct Evidence: marker/mechanism DNA:mutations:cds: |
OMIM ClinVar CTD RGD |
PMID:1641873 PMID:7607643 PMID:7655462 PMID:7668257 PMID:7719344 PMID:7719345 PMID:7773284 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:9536098 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:15975938 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16470531 PMID:16531735 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17264867 PMID:17525745 PMID:17576681 PMID:17693524 PMID:17694057 PMID: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:23908597 PMID:24016645 PMID:24036790 PMID:24127277 PMID:24486773 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25157968 PMID:25271085 PMID:25425289 PMID:25706251 PMID:25741868 PMID:25867380 PMID:25937001 PMID:26325558 PMID:26380986 PMID:26429889 PMID:26467025 PMID:26619011 PMID:27079505 PMID:27683237 PMID:28166811 PMID:28492532 PMID:28611549 PMID:30919572 PMID:31145570 PMID: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 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly |
ClinVar |
PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 PMID:9279764 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9843059 PMID:9950359 PMID:10094188 PMID:10861678 PMID:11424131 PMID:11746040 PMID:14613973 PMID:15241680 PMID:15915095 PMID:17552943 PMID:19215249 PMID:20301588 PMID:20301628 PMID:22016144 PMID:22622662 PMID:24728327 PMID:25741868 PMID:26740388 PMID:28492532 PMID:32238909 More...
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NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Twist1 |
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 CTD Direct Evidence: marker/mechanism |
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:28369379 PMID:28492532 PMID:29037998 PMID:29304373 PMID:30450715 PMID:30651579 PMID:31754721 PMID:31837199 PMID:33547006 PMID:33937142 PMID:8988166 More...
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RGD:1624353 |
NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
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Tjp2 |
tight junction protein 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 51 |
ClinVar |
PMID:20602916 |
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NCBI chr 1:221,709,745...221,838,383
Ensembl chr 1:221,709,745...221,838,295
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Fbln1 |
fibulin 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects |
ClinVar |
PMID:24084572 |
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NCBI chr 7:116,310,582...116,390,075
Ensembl chr 7:116,310,582...116,390,075
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Ripk4 |
receptor-interacting serine-threonine kinase 4 |
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ISO |
ClinVar Annotator: match by term: Bartsocas-Papas syndrome 1 |
OMIM ClinVar |
PMID:10925380 PMID:15264293 PMID:22197488 PMID:22197489 PMID:23074676 PMID:23610050 PMID:25326635 PMID:25741868 PMID:26752647 PMID:28492532 PMID:28940926 More...
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NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799
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Chuk |
component of inhibitor of nuclear factor kappa B kinase complex |
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ISO |
ClinVar Annotator: match by term: Bartsocas-Papas syndrome 2 |
OMIM ClinVar |
PMID:25691407 |
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NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065
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Hoxd13 |
homeo box D13 |
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ISO |
ClinVar Annotator: match by term: Brachydactyly-syndactyly syndrome | ClinVar Annotator: match by term: Brachydactyly-syndactyly-oligodactyly syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:17236141 PMID:22233338 PMID:23995701 PMID:24239177 PMID:25741868 |
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NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
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Bag2 |
BAG cochaperone 2 |
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ISO |
ClinVar Annotator: match by term: Acrocephalopolysyndactyly Type II | ClinVar Annotator: match by term: Carpenter syndrome |
ClinVar |
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NCBI chr 9:35,970,033...35,980,677
Ensembl chr 9:35,970,033...35,980,721
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Megf8 |
multiple EGF-like-domains 8 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Carpenter syndrome |
CTD ClinVar |
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NCBI chr 1:80,902,236...80,951,614
Ensembl chr 1:80,902,574...80,951,613
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Rab23 |
RAB23, member RAS oncogene family |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ACPS 2 | ClinVar Annotator: match by term: Acrocephalopolysyndactyly Type II | ClinVar Annotator: match by term: Carpenter syndrome |
CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17503333 PMID:17576681 PMID:20358613 PMID:21412941 PMID:23599695 PMID:24458945 PMID:25168863 PMID:25741868 PMID:28492532 More...
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NCBI chr 9:35,943,522...35,967,367
Ensembl chr 9:35,944,085...35,966,927
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Bag2 |
BAG cochaperone 2 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 1 |
ClinVar |
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NCBI chr 9:35,970,033...35,980,677
Ensembl chr 9:35,970,033...35,980,721
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Rab23 |
RAB23, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 1 |
OMIM ClinVar |
PMID:17503333 PMID:20358613 PMID:21412941 PMID:23599695 PMID:24458945 PMID:25741868 PMID:28492532 More...
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NCBI chr 9:35,943,522...35,967,367
Ensembl chr 9:35,944,085...35,966,927
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Actmap |
actin maturation protease |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,490,313...82,499,841
Ensembl chr 1:82,490,363...82,499,841
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Akt2 |
AKT serine/threonine kinase 2 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817
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Arhgef1 |
Rho guanine nucleotide exchange factor 1 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,499,026...80,520,954
Ensembl chr 1:80,499,131...80,520,953
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Atp1a3 |
ATPase Na+/K+ transporting subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
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Axl |
Axl receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,265,656...81,296,278
Ensembl chr 1:81,265,088...81,296,265
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B3gnt8 |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,135,602...81,138,501
Ensembl chr 1:81,135,499...81,142,263
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B9d2 |
B9 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356
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Bckdha |
branched chain keto acid dehydrogenase E1 subunit alpha |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862
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Blvrb |
biliverdin reductase B |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,738,646...82,756,312
Ensembl chr 1:82,738,695...82,770,375
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Ccdc97 |
coiled-coil domain containing 97 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,219,225...81,227,017
Ensembl chr 1:81,219,230...81,226,986
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Cd79a |
CD79a molecule |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,493,520...80,497,936
Ensembl chr 1:80,493,581...80,497,935
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Ceacam4 |
CEA cell adhesion molecule 4 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,376,667...80,382,943
Ensembl chr 1:80,376,648...80,382,915
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Ceacam6 |
CEA cell adhesion molecule 6 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,416,531...80,434,668
Ensembl chr 1:80,416,531...80,434,668
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Ceacam9 |
CEA cell adhesion molecule 9 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:77,405,619...77,410,154
Ensembl chr 1:77,405,619...77,410,155
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Cic |
capicua transcriptional repressor |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,853,920...80,880,537
Ensembl chr 1:80,853,920...80,880,532
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Cnfn |
cornifelin |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,949,699...80,953,747
Ensembl chr 1:80,951,600...80,953,747
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Coq8b |
coenzyme Q8B |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,525,578...82,549,182
Ensembl chr 1:82,526,568...82,549,180
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Cyp2a1 |
cytochrome P450, family 2, subfamily a, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,231,611...82,244,887
Ensembl chr 1:82,231,611...82,244,887
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Cyp2a3 |
cytochrome P450, family 2, subfamily a, polypeptide 3 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,171,914...82,179,980
Ensembl chr 1:82,169,949...82,179,979
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Cyp2b3 |
cytochrome P450, family 2, subfamily b, polypeptide 3 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,652,762...81,732,153
Ensembl chr 1:81,652,787...81,732,143
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Cyp2f4 |
cytochrome P450, family 2, subfamily f, polypeptide 4 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,416,108...82,429,897
Ensembl chr 1:82,416,130...82,429,896
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Cyp2s1 |
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 1:81,309,948...81,325,303
Ensembl chr 1:81,310,451...81,325,303
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Dedd2 |
death effector domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,789,084...80,807,789
Ensembl chr 1:80,792,000...80,807,714
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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 |
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NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750
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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 |
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NCBI chr 1:81,128,760...81,134,810
Ensembl chr 1:81,128,857...81,134,812
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Dmrtc2 |
DMRT-like family C2 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,466,259...80,473,883
Ensembl chr 1:80,466,132...80,473,531
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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 |
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NCBI chr 1:83,479,139...83,497,011
Ensembl chr 1:83,479,147...83,487,169
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Egln2 |
egl-9 family hypoxia-inducible factor 2 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,451,554...82,459,809
Ensembl chr 1:82,451,555...82,459,751
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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 |
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NCBI chr 1:83,538,217...83,542,262
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Eid2b |
EP300 interacting inhibitor of differentiation 2B |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,545,530...83,547,338
Ensembl chr 1:83,545,563...83,546,734
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Erf |
Ets2 repressor factor |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
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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 1:81,123,556...81,125,296
Ensembl chr 1:81,123,556...81,125,296
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Exosc5 |
exosome component 5 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,168,128...81,177,266
Ensembl chr 1:81,166,023...81,177,265
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Fbl |
fibrillarin |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,469,832...83,478,932
Ensembl chr 1:83,469,832...83,478,932
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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 |
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NCBI chr 1:83,374,979...83,413,083
Ensembl chr 1:83,372,127...83,413,083
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Grik5 |
glutamate ionotropic receptor kainate type subunit 5 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,605,878...80,667,896
Ensembl chr 1:80,605,892...80,667,125
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Gsk3a |
glycogen synthase kinase 3 alpha |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,815,843...80,825,732
Ensembl chr 1:80,815,850...80,825,802
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Hipk4 |
homeodomain interacting protein kinase 4 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,810,708...82,821,080
Ensembl chr 1:82,810,708...82,821,077
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Hnrnpul1 |
heterogeneous nuclear ribonucleoprotein U-like 1 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,228,404...81,264,121
Ensembl chr 1:81,228,404...81,262,592
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Itpkc |
inositol-trisphosphate 3-kinase C |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,500,957...82,522,533
Ensembl chr 1:82,500,957...82,522,779
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Lgals5 |
galectin 5 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr10:63,853,949...63,857,198
Ensembl chr10:63,853,935...63,857,153
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Lipe |
lipase E, hormone sensitive type |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,965,612...80,984,313
Ensembl chr 1:80,965,627...80,984,310
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G |
Ltbp4 |
latent transforming growth factor beta binding protein 4 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,600,136...82,634,346
Ensembl chr 1:82,600,136...82,632,178
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G |
Lypd4 |
Ly6/Plaur domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,460,487...80,466,105
Ensembl chr 1:80,460,487...80,466,011
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G |
Map3k10 |
mitogen activated protein kinase kinase kinase 10 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,955,783...82,974,084
Ensembl chr 1:82,955,207...82,974,084
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G |
Megf8 |
multiple EGF-like-domains 8 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23063620 PMID:25326635 PMID:25741868 PMID:28492532 PMID:29168297 More...
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NCBI chr 1:80,902,236...80,951,614
Ensembl chr 1:80,902,574...80,951,613
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G |
Mia |
MIA SH3 domain containing |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,473,677...82,476,378
Ensembl chr 1:82,473,678...82,475,370
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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 |
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NCBI chr 1:82,549,814...82,573,788
Ensembl chr 1:82,550,054...82,573,776
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G |
Pafah1b3 |
platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,881,263...80,883,789
Ensembl chr 1:80,881,309...80,883,893
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G |
Pld3 |
phospholipase D family, member 3 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,821,863...82,844,280
Ensembl chr 1:82,821,875...82,844,072
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G |
Plekhg2 |
pleckstrin homology and RhoGEF domain containing G2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,651,856...83,666,046
Ensembl chr 1:83,647,748...83,665,063
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G |
Pou2f2 |
POU class 2 homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,682,330...80,769,756
Ensembl chr 1:80,685,741...80,724,261
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G |
Prr19 |
proline rich 19 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,884,529...80,890,712
Ensembl chr 1:80,887,151...80,890,168
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G |
Prx |
periaxin |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407
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G |
Psmc4 |
proteasome 26S subunit, ATPase 4 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,349,127...83,357,497
Ensembl chr 1:83,348,592...83,357,494
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G |
Rab4b |
RAB4B, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,461,396...82,472,784
Ensembl chr 1:82,461,396...82,472,763
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G |
Rabac1 |
Rab acceptor 1 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,564,029...80,567,164
Ensembl chr 1:80,564,033...80,567,163
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G |
RGD1307554 |
similar to CG16812-PA |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,844,309...82,871,187
Ensembl chr 1:82,844,286...82,868,320
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G |
Rps16 |
ribosomal protein S16 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,643,066...83,646,056
Ensembl chr 1:83,643,130...83,646,206
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G |
Rps19 |
ribosomal protein S19 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,480,718...80,486,511
Ensembl chr 1:80,480,951...80,486,508
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G |
Selenov |
selenoprotein V |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,551,473...83,558,756
Ensembl chr 1:83,551,473...83,558,756
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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 |
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NCBI chr 1:82,775,692...82,778,961
Ensembl chr 1:82,775,252...82,779,091
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G |
Sertad3 |
SERTA domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,763,535...82,767,271
Ensembl chr 1:82,763,149...82,769,001
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G |
Shkbp1 |
Sh3kbp1 binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,636,797...82,650,330
Ensembl chr 1:82,636,797...82,650,375
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G |
Snrpa |
small nuclear ribonucleoprotein polypeptide A |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,481,770...82,490,540
Ensembl chr 1:82,481,770...82,490,538
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G |
Sptbn4 |
spectrin, beta, non-erythrocytic 4 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,650,750...82,738,345
Ensembl chr 1:82,650,751...82,737,228
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G |
Supt5h |
SPT5 homolog, DSIF elongation factor subunit |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,586,713...83,616,971
Ensembl chr 1:83,586,718...83,616,892
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G |
Tgfb1 |
transforming growth factor, beta 1 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Timm50 |
translocase of inner mitochondrial membrane 50 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,574,872...83,582,769
Ensembl chr 1:83,556,757...83,582,793
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G |
Tmem145 |
transmembrane protein 145 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,891,888...80,901,615
Ensembl chr 1:80,891,927...80,901,611
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G |
Tmem91 |
transmembrane protein 91 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,179,483...81,187,005
Ensembl chr 1:81,179,156...81,185,164
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G |
Ttc9b |
tetratricopeptide repeat domain 9B |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,953,434...82,955,659
Ensembl chr 1:82,953,434...82,955,616
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G |
Zfp11 |
zinc finger protein 11 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr12:27,028,067...27,040,846
Ensembl chr12:27,028,115...27,041,365
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G |
Zfp526 |
zinc finger protein 526 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,807,791...80,817,852
Ensembl chr 1:80,806,972...80,818,180
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G |
Zfp574 |
zinc finger protein 574 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,667,984...80,678,257
Ensembl chr 1:80,664,259...80,679,427
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G |
Znf780b |
zinc finger protein 780B |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,009,174...83,030,463
Ensembl chr 1:83,009,189...83,082,107
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G |
Lrp4 |
LDL receptor related protein 4 |
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ISO |
ClinVar Annotator: match by term: Cenani-Lenz syndactyly syndrome | ClinVar Annotator: match by term: Syndactyly type 7 |
OMIM ClinVar |
PMID:7891385 PMID:9182770 PMID:9536098 PMID:10756427 PMID:11260233 PMID:12868467 PMID:14577675 PMID:16199547 PMID:17576681 PMID:18978656 PMID:20381006 PMID:21471202 PMID:23636941 PMID:24234652 PMID:24924585 PMID:25119311 PMID:25741868 PMID:26751728 PMID:28492532 PMID:28559208 More...
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NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593
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G |
Aasdhppt |
aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 8:1,453,226...1,463,990
Ensembl chr 8:1,452,282...1,463,966
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G |
Abcg4 |
ATP binding cassette subfamily G member 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 8:44,611,187...44,629,818
Ensembl chr 8:44,611,187...44,626,881
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G |
Acad8 |
acyl-CoA dehydrogenase family, member 8 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 8:25,382,271...25,406,429
Ensembl chr 8:25,382,273...25,406,414
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G |
Acat1 |
acetyl-CoA acetyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855
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G |
Acrv1 |
acrosomal vesicle protein 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:36,404,394...36,409,971
Ensembl chr 8:36,404,394...36,424,959
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G |
Adamts15 |
ADAM metallopeptidase with thrombospondin type 1 motif, 15 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:29,307,864...29,331,249
Ensembl chr 8:29,307,865...29,331,249
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G |
Adamts8 |
ADAM metallopeptidase with thrombospondin type 1 motif, 8 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:29,349,078...29,368,413
Ensembl chr 8:29,349,114...29,368,404
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G |
Alg9 |
ALG9, alpha-1,2-mannosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261
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G |
Alkbh8 |
alkB homolog 8, tRNA methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:378,779...449,382
Ensembl chr 6:378,100...452,165
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G |
Ankk1 |
ankyrin repeat and kinase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:49,779,862...49,788,024
Ensembl chr 8:49,779,862...49,788,024
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G |
Aplp2 |
amyloid beta precursor like protein 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:29,599,230...29,662,311
Ensembl chr 8:29,599,230...29,661,855
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G |
Apoa1 |
apolipoprotein A1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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G |
Apoa4 |
apolipoprotein A4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
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G |
Apoa5 |
apolipoprotein A5 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816
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G |
Apoc3 |
apolipoprotein C3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
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G |
Arcn1 |
archain 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,057,617...45,082,224
Ensembl chr 8:45,057,619...45,082,247
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G |
Arhgap20 |
Rho GTPase activating protein 20 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:52,074,472...52,155,739
Ensembl chr 8:52,074,158...52,155,739
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G |
Arhgap32 |
Rho GTPase activating protein 32 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:30,421,269...30,681,653
Ensembl chr 8:30,421,515...30,678,454
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G |
Arhgef12 |
Rho guanine nucleotide exchange factor 12 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:43,350,070...43,475,404
Ensembl chr 8:43,353,799...43,476,366
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G |
Atm |
ATM serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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G |
Atp5mg |
ATP synthase membrane subunit G |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,226,750...45,233,582
Ensembl chr 8:45,225,686...45,233,559
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G |
B3gat1 |
beta-1,3-glucuronyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:25,087,123...25,114,692
Ensembl chr 8:25,087,547...25,113,395
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G |
Bace1 |
beta-secretase 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:46,142,060...46,166,268
Ensembl chr 8:46,142,116...46,165,876
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G |
Barx2 |
BARX homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:30,251,132...30,319,105
Ensembl chr 8:30,251,132...30,319,013
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G |
Bcl9l |
BCL9 like |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,811,977...44,840,611
Ensembl chr 8:44,811,977...44,840,611
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G |
Bco2 |
beta-carotene oxygenase 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:50,882,174...50,907,676
Ensembl chr 8:50,882,181...50,915,467
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G |
Bsx |
brain specific homeobox |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:41,254,105...41,257,861
Ensembl chr 8:41,254,105...41,257,861
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G |
Btg4 |
BTG anti-proliferation factor 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:51,410,774...51,425,802
Ensembl chr 8:51,422,061...51,425,796
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G |
Bud13 |
BUD13 homolog |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:46,575,124...46,590,964
Ensembl chr 8:46,575,115...46,590,958
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G |
C1qtnf5 |
C1q and TNF related 5 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,450,934...44,453,075
Ensembl chr 8:44,451,154...44,453,074
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G |
C2cd2l |
C2CD2-like |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,648,074...44,658,856
Ensembl chr 8:44,648,079...44,658,340
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G |
C8h11orf52 |
similar to human chromosome 11 open reading frame 52 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:51,081,342...51,088,333
Ensembl chr 8:51,081,342...51,094,533
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G |
C8h11orf65 |
similar to human chromosome 11 open reading frame 65 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
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G |
C8h11orf71 |
similar to human chromosome 11 open reading frame 71 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:48,838,556...48,838,970
Ensembl chr 8:48,838,100...48,842,270
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G |
Cadm1 |
cell adhesion molecule 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:47,847,836...48,178,703
Ensembl chr 8:47,847,325...48,182,833
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G |
Casp1 |
caspase 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
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G |
Casp12 |
caspase 12 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:2,642,296...2,669,549
Ensembl chr 8:2,642,434...2,674,037
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G |
Casp4 |
caspase 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:2,599,017...2,635,097
Ensembl chr 8:2,598,876...2,635,092
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G |
Cbl |
Cbl proto-oncogene |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
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G |
Ccdc15 |
coiled-coil domain containing 15 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:36,991,147...37,068,849
Ensembl chr 8:36,998,867...37,068,919
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G |
Ccdc153 |
coiled-coil domain containing 153 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,576,528...44,584,345
Ensembl chr 8:44,577,836...44,584,338
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G |
Cd3d |
CD3 delta subunit of T-cell receptor complex |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809
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G |
Cd3e |
CD3 epsilon subunit of T-cell receptor complex |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,303,848...45,315,297
Ensembl chr 8:45,303,852...45,315,022
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G |
Cd3g |
CD3 gamma subunit of T-cell receptor complex |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,280,797...45,287,271
Ensembl chr 8:45,281,204...45,287,147
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G |
Cdon |
cell adhesion associated, oncogene regulated |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:33,775,123...33,861,635
Ensembl chr 8:33,806,183...33,859,033
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G |
Cenatac |
centrosomal AT-AC splicing factor |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,735,968...44,742,859
Ensembl chr 8:44,735,972...44,742,837
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G |
Cep164 |
centrosomal protein 164 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:46,070,901...46,134,511
Ensembl chr 8:46,071,076...46,134,336
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G |
Cfap68 |
cilia and flagella associated protein 68 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:51,107,663...51,113,192
Ensembl chr 8:51,107,721...51,113,420
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|
G |
Chek1 |
checkpoint kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:36,420,565...36,443,477
Ensembl chr 8:36,420,569...36,441,009
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|
G |
Cldn25 |
claudin 25 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:49,391,975...49,392,664
Ensembl chr 8:49,391,975...49,392,664
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G |
Clmp |
CXADR-like membrane protein |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:41,060,527...41,168,841
Ensembl chr 8:41,060,799...41,168,838
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G |
Crtam |
cytotoxic and regulatory T cell molecule |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:41,340,117...41,377,343
Ensembl chr 8:41,340,837...41,377,343
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G |
Cryab |
crystallin, alpha B |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157
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G |
Cul5 |
cullin 5 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:54,012,963...54,066,751
Ensembl chr 8:54,016,006...54,066,666
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G |
Cwf19l2 |
CWF19 like cell cycle control factor 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:290,148...356,636
Ensembl chr 6:281,685...356,604
|
|
G |
Cxcr5 |
C-X-C motif chemokine receptor 5 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,842,098...44,858,425
Ensembl chr 8:44,843,413...44,857,893
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|
G |
Dcps |
decapping enzyme, scavenger |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:33,468,669...33,524,407
Ensembl chr 8:33,415,671...33,524,389
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|
G |
Ddx10 |
DEAD-box helicase 10 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:53,488,656...53,643,373
Ensembl chr 8:53,488,656...53,643,373
|
|
G |
Ddx25 |
DEAD-box helicase 25 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:33,894,224...33,910,377
Ensembl chr 8:33,894,232...33,921,764
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|
G |
Ddx6 |
DEAD-box helicase 6 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,931,127...44,967,773
Ensembl chr 8:44,931,974...44,964,405
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|
G |
Dixdc1 |
DIX domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:51,007,835...51,081,191
Ensembl chr 8:51,007,838...51,081,090
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G |
Dlat |
dihydrolipoamide S-acetyltransferase |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479
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G |
Dpagt1 |
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087
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G |
Drd2 |
dopamine receptor D2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:49,708,903...49,772,888
Ensembl chr 8:49,708,927...49,772,875
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|
G |
Dscaml1 |
DS cell adhesion molecule-like 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,740,298...46,057,322
Ensembl chr 8:45,740,298...46,057,320
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|
G |
Ei24 |
EI24, autophagy associated transmembrane protein |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:36,494,289...36,510,653
Ensembl chr 8:36,494,289...36,510,571
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|
G |
Elmod1 |
ELMO domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:54,298,363...54,355,348
Ensembl chr 8:54,298,363...54,355,140
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|
G |
Esam |
endothelial cell adhesion molecule |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:37,238,228...37,249,217
Ensembl chr 8:37,238,287...37,249,215
|
|
G |
Ets1 |
ETS proto-oncogene 1, transcription factor |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:31,045,909...31,168,010
Ensembl chr 8:31,045,945...31,168,010
|
|
G |
Exph5 |
exophilin 5 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:53,698,825...53,775,371
Ensembl chr 8:53,698,852...53,773,169
|
|
G |
Fam118b |
family with sequence similarity 118, member B |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:33,566,681...33,617,310
Ensembl chr 8:33,566,669...33,617,270
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|
G |
Fdx1 |
ferredoxin 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:52,268,536...52,287,344
Ensembl chr 8:52,268,536...52,287,414
|
|
G |
Fdxacb1 |
ferredoxin-fold anticodon binding domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:51,111,831...51,118,253
Ensembl chr 8:51,113,397...51,118,308
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|
G |
Fez1 |
fasciculation and elongation protein zeta 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:36,544,462...36,589,684
Ensembl chr 8:36,544,535...36,589,683
|
|
G |
Fli1 |
Fli-1 proto-oncogene, ETS transcription factor |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433
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|
G |
Foxr1 |
forkhead box R1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,760,587...44,768,696
Ensembl chr 8:44,760,948...44,768,880
|
|
G |
Foxred1 |
FAD-dependent oxidoreductase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:33,551,010...33,560,227
Ensembl chr 8:33,551,013...33,560,192
|
|
G |
Fxyd2 |
FXYD domain-containing ion transport regulator 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,712,887...45,720,032
Ensembl chr 8:45,712,903...45,720,203
|
|
G |
Fxyd6 |
FXYD domain-containing ion transport regulator 6 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,679,054...45,705,958
Ensembl chr 8:45,678,885...45,705,958
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|
G |
Glb1l2 |
galactosidase, beta 1-like 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:25,115,462...25,166,843
Ensembl chr 8:25,115,462...25,166,783
|
|
G |
Glb1l3 |
galactosidase, beta 1-like 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:25,179,165...25,220,904
Ensembl chr 8:25,179,165...25,220,904
|
|
G |
Gramd1b |
GRAM domain containing 1B |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:40,654,492...40,893,869
Ensembl chr 8:40,659,182...40,893,925
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|
G |
Gria4 |
glutamate ionotropic receptor AMPA type subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:1,562,118...2,035,035
Ensembl chr 8:1,562,119...2,034,979
|
|
G |
Grik4 |
glutamate ionotropic receptor kainate type subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:42,903,043...43,331,990
Ensembl chr 8:42,905,056...43,193,751
|
|
G |
Gucy1a2 |
guanylate cyclase 1 soluble subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:500,212...900,201
Ensembl chr 8:500,212...889,203
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|
G |
H2ax |
H2A.X variant histone |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,671,927...44,673,257
Ensembl chr 8:44,671,786...44,673,239
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G |
Hepacam |
hepatic and glial cell adhesion molecule |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:37,087,864...37,106,759
Ensembl chr 8:37,087,857...37,105,920
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|
G |
Hinfp |
histone H4 transcription factor |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,634,333...44,644,288
Ensembl chr 8:44,634,333...44,641,000
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|
G |
Hmbs |
hydroxymethylbilane synthase |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
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G |
Hoatz |
HOATZ cilia and flagella associated protein |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:51,385,931...51,409,796
Ensembl chr 8:51,388,382...51,412,514
|
|
G |
Hspa8 |
heat shock protein family A (Hsp70) member 8 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:41,183,397...41,187,260
Ensembl chr 8:41,183,264...41,187,259
|
|
G |
Hspb2 |
heat shock protein family B (small) member 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:51,093,267...51,094,864
Ensembl chr 8:51,081,342...51,094,533
|
|
G |
Htr3a |
5-hydroxytryptamine receptor 3A |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:49,242,018...49,254,475
Ensembl chr 8:49,242,020...49,254,389
|
|
G |
Htr3b |
5-hydroxytryptamine receptor 3B |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:49,279,291...49,308,444
Ensembl chr 8:49,279,173...49,308,444
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|
G |
Hyls1 |
HYLS1, centriolar and ciliogenesis associated |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:33,913,016...33,922,125
Ensembl chr 8:33,912,692...33,921,760
|
|
G |
Hyou1 |
hypoxia up-regulated 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186
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|
G |
Ift46 |
intraflagellar transport 46 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,081,593...45,104,052
Ensembl chr 8:45,087,440...45,104,052
|
|
G |
Igsf9b |
immunoglobulin superfamily, member 9B |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:25,712,644...25,769,481
Ensembl chr 8:25,712,644...25,758,554
|
|
G |
Il10ra |
interleukin 10 receptor subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,563,009...45,578,041
Ensembl chr 8:45,563,137...45,578,061
|
|
G |
Il18 |
interleukin 18 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
|
|
G |
Jam3 |
junctional adhesion molecule 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:25,508,461...25,569,306
Ensembl chr 8:25,507,057...25,569,355
|
|
G |
Jaml |
junction adhesion molecule like |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,384,836...45,415,459
Ensembl chr 8:45,383,495...45,416,565
|
|
G |
Jhy |
junctional cadherin complex regulator |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:41,276,501...41,333,383
Ensembl chr 8:41,276,491...41,333,514
|
|
G |
Kbtbd3 |
kelch repeat and BTB domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:1,464,162...1,491,144
Ensembl chr 8:1,473,247...1,487,943
|
|
G |
Kcnj1 |
potassium inwardly-rectifying channel, subfamily J, member 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:30,779,883...30,808,607
Ensembl chr 8:30,753,617...30,813,796
|
|
G |
Kcnj5 |
potassium inwardly-rectifying channel, subfamily J, member 5 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518
|
|
G |
Kirrel3 |
kirre like nephrin family adhesion molecule 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:32,865,779...33,407,555
Ensembl chr 8:32,862,776...33,405,676
|
|
G |
Kmt2a |
lysine methyltransferase 2A |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,116,771...45,193,320
Ensembl chr 8:45,118,814...45,193,181
|
|
G |
Layn |
layilin |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:51,363,928...51,384,748
Ensembl chr 8:51,367,091...51,384,330
|
|
G |
LOC100125362 |
hypothetical protein LOC100125362 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:53,062,361...53,069,882
Ensembl chr 8:53,062,360...53,069,538
|
|
G |
LOC103689958 |
olfactory receptor 49-like |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:65,911,907...65,913,255
Ensembl chr 1:65,912,105...65,913,079
|
|
G |
Mcam |
melanoma cell adhesion molecule |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,479,391...44,487,575
Ensembl chr 8:44,479,376...44,487,571
|
|
G |
Mfrp |
membrane frizzled-related protein |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859
|
|
G |
Mir100 |
microRNA 100 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:41,901,225...41,901,304
Ensembl chr 8:41,901,225...41,901,304
|
|
G |
Mir125b1 |
microRNA 125b-1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:41,952,966...41,953,052
Ensembl chr 8:41,952,966...41,953,052
|
|
G |
Mir34b |
microRNA 34b |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:51,410,244...51,410,327
Ensembl chr 8:51,410,244...51,410,327
|
|
G |
Mir34c |
microRNA 34c |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:51,409,726...51,409,802
Ensembl chr 8:51,409,726...51,409,802
|
|
G |
Mpzl2 |
myelin protein zero-like 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,348,285...45,359,298
Ensembl chr 8:45,348,285...45,359,298
|
|
G |
Mpzl3 |
myelin protein zero-like 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,360,475...45,380,662
Ensembl chr 8:45,349,054...45,380,662
|
|
G |
Msantd2 |
Myb/SANT DNA binding domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:37,200,890...37,234,691
Ensembl chr 8:37,200,260...37,234,476
|
|
G |
Msantd4 |
Myb/SANT DNA binding domain containing 4 with coiled-coils |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:1,516,979...1,527,587
Ensembl chr 8:1,516,979...1,527,587
|
|
G |
Ncam1 |
neural cell adhesion molecule 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
|
|
G |
Ncapd3 |
non-SMC condensin II complex, subunit D3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:25,437,067...25,506,375
Ensembl chr 8:25,437,123...25,506,373
|
|
G |
Nectin1 |
nectin cell adhesion molecule 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
|
|
G |
Nfrkb |
nuclear factor related to kappa B binding protein |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:29,831,802...29,863,360
Ensembl chr 8:29,831,812...29,863,359
|
|
G |
Nherf4 |
NHERF family PDZ scaffold protein 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,584,390...44,588,838
Ensembl chr 8:44,584,390...44,588,860
|
|
G |
Nkapd1 |
NKAP domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:50,955,650...50,966,915
Ensembl chr 8:50,955,654...50,966,830
|
|
G |
Nlrx1 |
NLR family member X1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,588,476...44,606,678
Ensembl chr 8:44,590,048...44,606,484
|
|
G |
Nnmt |
nicotinamide N-methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:48,928,663...48,947,734
Ensembl chr 8:48,933,598...48,946,655
|
|
G |
Npat |
nuclear protein, co-activator of histone transcription |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:53,932,993...53,970,875
Ensembl chr 8:53,932,993...53,970,875
|
|
G |
Nrgn |
neurogranin |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:37,255,462...37,263,659
Ensembl chr 8:37,256,930...37,257,516
|
|
G |
Ntm |
neurotrimin |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:27,376,582...28,366,604
Ensembl chr 8:27,377,773...28,366,595
|
|
G |
Nxpe1 |
neurexophilin and PC-esterase domain family, member 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:48,749,250...48,773,762
Ensembl chr 8:48,751,014...48,785,353
|
|
G |
Nxpe2 |
neurexophilin and PC-esterase domain family, member 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:48,661,708...48,695,555
Ensembl chr 8:48,661,708...48,698,035
|
|
G |
Nxpe4 |
neurexophilin and PC-esterase domain family member 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:48,502,697...48,744,101
Ensembl chr 8:48,722,440...48,744,100
|
|
G |
Oaf |
out at first homolog |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:43,594,362...43,612,334
Ensembl chr 8:43,594,363...43,612,334
|
|
G |
Olr1271 |
olfactory receptor 1271 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:39,127,409...39,131,889
Ensembl chr 8:39,127,352...39,131,900
|
|
G |
Opcml |
opioid binding protein/cell adhesion molecule-like |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:26,788,988...27,304,551
Ensembl chr 8:26,192,841...27,300,620
|
|
G |
Or10g9 |
olfactory receptor family 10 subfamily G member 9 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:40,352,436...40,353,371
Ensembl chr 8:40,352,436...40,353,371
|
|
G |
Or10g9b |
olfactory receptor family 10 subfamily G member 9B |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:40,358,211...40,359,143
Ensembl chr 8:40,357,714...40,361,692
|
|
G |
Or10s1 |
olfactory receptor family 10 subfamily S member 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:40,377,018...40,378,068
Ensembl chr 8:40,377,103...40,378,068
|
|
G |
Or4d5 |
olfactory receptor family 4 subfamily D member 5 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:40,423,865...40,424,809
Ensembl chr 8:40,423,865...40,424,809
|
|
G |
Or6x1 |
olfactory receptor family 6 subfamily X member 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:40,538,157...40,539,095
Ensembl chr 8:40,533,033...40,541,586
|
|
G |
Or8a1b |
olfactory receptor family 8 subfamily A member 1B |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:37,434,903...37,435,832
Ensembl chr 8:37,434,551...37,439,746
|
|
G |
Or8b12 |
olfactory receptor family 8 subfamily B member 12 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:37,479,706...37,480,638
Ensembl chr 8:37,478,794...37,481,315
|
|
G |
Or8b3 |
olfactory receptor family 8 subfamily B member 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:38,521,915...38,522,856
Ensembl chr 8:38,520,758...38,522,936
|
|
G |
Or8b4 |
olfactory receptor family 8 subfamily B member 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:37,720,158...37,721,087
|
|
G |
Or8b8 |
olfactory receptor family 8 subfamily B member 8 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:37,693,578...37,694,510
Ensembl chr 8:37,693,499...37,694,547
|
|
G |
Or8d4 |
olfactory receptor family 8 subfamily D member 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:40,469,997...40,470,932
Ensembl chr 8:40,469,997...40,470,932
|
|
G |
Or8g17d |
olfactory receptor family 8 subfamily G member 17D |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:39,180,564...39,181,499
Ensembl chr 8:39,180,079...39,184,720
|
|
G |
Or8g30 |
olfactory receptor family 8 subfamily G member 30 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:39,613,311...39,614,246
Ensembl chr 8:39,613,126...39,618,924
|
|
G |
Pafah1b2 |
platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:46,260,069...46,312,073
Ensembl chr 8:46,261,064...46,279,833
|
|
G |
Panx3 |
pannexin 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:37,366,758...37,377,640
Ensembl chr 8:37,366,862...37,377,640
|
|
G |
Pate1 |
prostate and testis expressed 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:34,048,617...34,050,848
Ensembl chr 8:34,048,617...34,050,848
|
|
G |
Pate2 |
prostate and testis expressed 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:34,019,123...34,026,850
Ensembl chr 8:34,024,114...34,050,517
|
|
G |
Pate3 |
prostate and testis expressed 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:34,014,164...34,016,175
Ensembl chr 8:34,014,164...34,016,175
|
|
G |
Pate4 |
prostate and testis expressed 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:33,988,812...33,991,552
Ensembl chr 8:33,988,812...33,991,552
|
|
G |
Pcsk7 |
proprotein convertase subtilisin/kexin type 7 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:46,202,079...46,224,699
Ensembl chr 8:46,202,131...46,224,705
|
|
G |
Phldb1 |
pleckstrin homology-like domain, family B, member 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,003,538...45,051,541
Ensembl chr 8:45,003,538...45,051,522
|
|
G |
Pih1d2 |
PIH1 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:50,966,885...50,976,901
Ensembl chr 8:50,966,885...50,975,656
|
|
G |
Pknox2 |
PBX/knotted 1 homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:36,600,633...36,863,131
Ensembl chr 8:36,600,636...36,790,940
|
|
G |
Plet1 |
placenta expressed transcript 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:50,842,210...50,854,015
Ensembl chr 8:50,841,854...50,853,659
|
|
G |
Poglut3 |
protein O-glucosyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:53,777,614...53,795,404
Ensembl chr 8:53,777,785...53,795,399
|
|
G |
Pou2af1 |
POU class 2 homeobox associating factor 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:51,521,813...51,548,819
Ensembl chr 8:51,474,015...51,548,819
|
|
G |
Pou2af2 |
POU class 2 homeobox associating factor 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:51,607,780...51,648,790
Ensembl chr 8:51,607,763...51,648,628
|
|
G |
Pou2af3 |
POU class 2 homeobox associating factor 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:51,588,237...51,597,114
Ensembl chr 8:51,588,237...51,603,855
|
|
G |
Pou2f3 |
POU class 2 homeobox 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:43,495,408...43,577,795
Ensembl chr 8:43,495,527...43,577,795
|
|
G |
Ppp2r1b |
protein phosphatase 2 scaffold subunit A beta |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:51,195,860...51,228,442
Ensembl chr 8:51,186,717...51,228,485
|
|
G |
Prdm10 |
PR/SET domain 10 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:29,724,011...29,827,757
Ensembl chr 8:29,724,245...29,826,080
|
|
G |
Pts |
6-pyruvoyl-tetrahydropterin synthase |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:50,870,838...50,877,878
Ensembl chr 8:50,870,841...50,877,869
|
|
G |
Pus3 |
pseudouridine synthase 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:33,910,461...33,918,716
Ensembl chr 8:33,911,357...33,918,714
|
|
G |
Rab39a |
RAB39A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:54,088,744...54,105,756
Ensembl chr 8:54,088,129...54,106,483
|
|
G |
Rbm7 |
RNA binding motif protein 7 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:48,831,894...48,838,399
Ensembl chr 8:48,831,894...48,838,411
|
|
G |
Rdx |
radixin |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:52,379,494...52,437,673
Ensembl chr 8:52,379,494...52,437,678
|
|
G |
Rexo2 |
RNA exonuclease 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:48,811,900...48,823,622
Ensembl chr 8:48,811,900...48,823,622
|
|
G |
Rnf214 |
ring finger protein 214 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:46,166,269...46,202,048
Ensembl chr 8:46,166,598...46,201,576
|
|
G |
Rnf26 |
ring finger protein 26 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,454,551...44,456,745
Ensembl chr 8:44,454,292...44,457,331
|
|
G |
Robo3 |
roundabout guidance receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315
|
|
G |
Robo4 |
roundabout guidance receptor 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:37,119,966...37,133,887
Ensembl chr 8:37,119,988...37,132,519
|
|
G |
Rps25 |
ribosomal protein s25 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,733,623...44,735,999
Ensembl chr 8:44,733,029...44,737,271
|
|
G |
Rpusd4 |
RNA pseudouridine synthase D4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:33,617,384...33,626,873
Ensembl chr 8:33,617,379...33,626,873
|
|
G |
Sc5d |
sterol-C5-desaturase |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:42,629,649...42,641,257
Ensembl chr 8:42,632,672...42,641,273
|
|
G |
Scn2b |
sodium voltage-gated channel beta subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,425,629...45,437,765
Ensembl chr 8:45,425,629...45,437,765
|
|
G |
Scn3b |
sodium voltage-gated channel beta subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:40,630,372...40,652,869
Ensembl chr 8:40,630,455...40,652,868
|
|
G |
Scn4b |
sodium voltage-gated channel beta subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292
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|
G |
Sdhd |
succinate dehydrogenase complex subunit D |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:50,944,717...50,954,298
Ensembl chr 8:50,944,704...50,954,238
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G |
Siae |
sialic acid acetylesterase |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:37,318,724...37,354,004
Ensembl chr 8:37,318,747...37,353,996
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G |
Sidt2 |
SID1 transmembrane family, member 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:46,232,379...46,248,913
Ensembl chr 8:46,232,383...46,248,700
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G |
Sik2 |
salt-inducible kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:51,225,543...51,325,343
Ensembl chr 8:51,225,543...51,325,415
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G |
Sik3 |
SIK family kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:46,312,253...46,522,444
Ensembl chr 8:46,311,989...46,522,444
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G |
Slc35f2 |
solute carrier family 35, member F2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:54,159,970...54,203,614
Ensembl chr 8:54,159,970...54,203,612
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G |
Slc37a2 |
solute carrier family 37 member 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:36,945,787...36,971,748
Ensembl chr 8:36,946,930...36,971,482
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G |
Slc37a4 |
solute carrier family 37 member 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301
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G |
Sln |
sarcolipin |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:54,221,389...54,248,110
Ensembl chr 8:54,243,542...54,247,791
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G |
Snx19 |
sorting nexin 19 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:28,829,881...28,867,600
Ensembl chr 8:28,829,886...28,867,061
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|
G |
Sorl1 |
sortilin related receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:42,341,704...42,504,435
Ensembl chr 8:42,341,704...42,504,513
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G |
Spa17 |
sperm autoantigenic protein 17 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:37,307,432...37,318,645
Ensembl chr 8:37,307,557...37,318,639
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G |
Spata19 |
spermatogenesis associated 19 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:25,814,922...25,820,663
Ensembl chr 8:25,814,905...25,820,670
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G |
Srpra |
SRP receptor subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:33,560,365...33,566,458
Ensembl chr 8:33,560,348...33,566,470
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G |
St14 |
ST14 transmembrane serine protease matriptase |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
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G |
St3gal4 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:33,415,666...33,465,365
Ensembl chr 8:33,415,671...33,524,389
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G |
Stt3a |
STT3 oligosaccharyltransferase complex catalytic subunit A |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:36,443,623...36,483,111
Ensembl chr 8:36,446,788...36,483,293
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G |
Tagln |
transgelin |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:46,224,939...46,230,413
Ensembl chr 8:46,222,472...46,230,668
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G |
Tbcel |
tubulin folding cofactor E-like |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:42,795,648...42,854,552
Ensembl chr 8:42,796,730...42,854,552
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G |
Tbrg1 |
transforming growth factor beta regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:37,355,274...37,362,933
Ensembl chr 8:37,354,658...37,362,930
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G |
Tecta |
tectorin alpha |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707
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G |
Tex12 |
testis expressed 12 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:50,908,161...50,913,205
Ensembl chr 8:50,909,052...50,913,217
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G |
Thy1 |
Thy-1 cell surface antigen |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,389,495...44,394,688
Ensembl chr 8:44,389,513...44,394,659
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G |
Thyn1 |
thymocyte nuclear protein 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:25,406,563...25,415,444
Ensembl chr 8:25,406,500...25,415,445
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G |
Timm8b |
translocase of inner mitochondrial membrane 8 homolog B |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:50,954,350...50,955,730
Ensembl chr 8:50,954,342...50,955,729
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G |
Tirap |
TIR domain containing adaptor protein |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:33,531,724...33,548,508
Ensembl chr 8:33,531,725...33,547,432
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G |
Tlcd5 |
TLC domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:43,481,388...43,486,288
Ensembl chr 8:43,479,016...43,486,290
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G |
Tmem218 |
transmembrane protein 218 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927
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G |
Tmem225 |
transmembrane protein 225 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:40,497,483...40,500,041
Ensembl chr 8:40,497,483...40,500,041
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|
G |
Tmem25 |
transmembrane protein 25 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,107,116...45,112,657
Ensembl chr 8:45,107,121...45,116,389
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G |
Tmem45b |
transmembrane protein 45b |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:29,865,276...29,910,453
Ensembl chr 8:29,865,278...29,910,453
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|
G |
Tmprss13 |
transmembrane serine protease 13 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,625,759...45,653,943
Ensembl chr 8:45,625,626...45,653,938
|
|
G |
Tmprss4 |
transmembrane serine protease 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,475,819...45,508,409
Ensembl chr 8:45,476,053...45,508,409
|
|
G |
Tmprss5 |
transmembrane serine protease 5 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:49,437,321...49,461,395
Ensembl chr 8:49,441,984...49,460,071
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G |
Trappc4 |
trafficking protein particle complex subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,729,458...44,733,285
Ensembl chr 8:44,725,331...44,733,491
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G |
Treh |
trehalase |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,990,182...45,003,881
Ensembl chr 8:44,990,182...45,003,540
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G |
Trim29 |
tripartite motif-containing 29 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:43,682,221...43,706,992
Ensembl chr 8:43,682,221...43,706,992
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G |
Ttc12 |
tetratricopeptide repeat domain 12 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:49,799,916...49,847,940
Ensembl chr 8:49,799,920...49,847,087
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G |
Ttc36 |
tetratricopeptide repeat domain 36 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,112,737...45,116,345
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G |
Ubash3b |
ubiquitin associated and SH3 domain containing, B |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:41,385,419...41,532,248
Ensembl chr 8:41,388,341...41,532,201
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G |
Ube4a |
ubiquitination factor E4A |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,236,022...45,278,129
Ensembl chr 8:45,236,026...45,278,038
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G |
Upk2 |
uroplakin 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,779,198...44,781,190
Ensembl chr 8:44,779,198...44,781,190
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G |
Usp2 |
ubiquitin specific peptidase 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,411,457...44,439,668
Ensembl chr 8:44,411,607...44,438,331
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G |
Usp28 |
ubiquitin specific peptidase 28 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:49,325,766...49,386,229
Ensembl chr 8:49,325,867...49,386,229
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G |
Vps11 |
VPS11 core subunit of CORVET and HOPS complexes |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,683,768...44,698,572
Ensembl chr 8:44,684,127...44,698,568
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G |
Vps26b |
VPS26 retromer complex component B |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:25,415,877...25,436,985
Ensembl chr 8:25,415,261...25,436,985
|
|
G |
Vsig2 |
V-set and immunoglobulin domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:37,250,107...37,255,150
Ensembl chr 8:37,250,107...37,255,150
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G |
Vwa5a |
von Willebrand factor A domain containing 5A |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:38,815,176...38,848,674
Ensembl chr 8:38,815,210...38,839,112
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G |
Zbtb16 |
zinc finger and BTB domain containing 16 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:48,989,376...49,177,011
Ensembl chr 8:48,994,566...49,177,011
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G |
Zbtb44 |
zinc finger and BTB domain containing 44 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:29,466,055...29,524,027
Ensembl chr 8:29,466,352...29,518,163
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G |
Zc3h12c |
zinc finger CCCH type containing 12C |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:52,443,791...52,508,643
Ensembl chr 8:52,448,320...52,504,315
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G |
Zfp202 |
zinc finger protein 202 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:40,542,665...40,567,397
Ensembl chr 8:40,542,701...40,563,118
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G |
Zpr1 |
ZPR1 zinc finger |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:46,564,898...46,574,719
Ensembl chr 8:46,565,146...46,574,719
|
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G |
Zw10 |
zw10 kinetochore protein |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:49,396,541...49,424,743
Ensembl chr 8:49,396,545...49,421,805
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G |
Aldoa |
aldolase, fructose-bisphosphate A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182
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G |
Aldoart2 |
aldolase 1 A retrogene 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709
|
|
G |
Asphd1 |
aspartate beta-hydroxylase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:181,552,974...181,556,842
Ensembl chr 1:181,552,884...181,556,090
|
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G |
C1h16orf54 |
similar to human chromosome 16 open reading frame 54 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:181,702,447...181,705,128
Ensembl chr 1:181,702,503...181,705,835
|
|
G |
C1h16orf92 |
similar to human chromosome 16 open reading frame 92 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:181,434,524...181,441,000
|
|
G |
Cdipt |
CDP-diacylglycerol--inositol 3-phosphatidyltransferase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:181,583,098...181,587,409
Ensembl chr 1:181,583,141...181,587,408
|
|
G |
Cdiptos |
CDIP transferase, opposite strand |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:181,579,391...181,583,017
Ensembl chr 1:181,579,387...181,582,860
|
|
G |
Coro1a |
coronin 1A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:181,295,561...181,300,566
Ensembl chr 1:181,295,562...181,300,534
|
|
G |
Doc2a |
double C2 domain alpha |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:181,457,415...181,462,528
Ensembl chr 1:181,458,390...181,462,030
|
|
G |
Gdpd3 |
glycerophosphodiester phosphodiesterase domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:181,373,505...181,383,063
Ensembl chr 1:181,366,626...181,383,063
|
|
G |
Hirip3 |
HIRA interacting protein 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:181,472,056...181,475,082
Ensembl chr 1:181,472,056...181,475,079
|
|
G |
Ino80e |
INO80 complex subunit E |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:181,461,406...181,472,059
Ensembl chr 1:181,461,408...181,472,469
|
|
G |
Kctd13 |
potassium channel tetramerization domain containing 13 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:181,534,534...181,552,843
Ensembl chr 1:181,534,515...181,552,881
|
|
G |
Kif22 |
kinesin family member 22 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:181,635,347...181,650,351
Ensembl chr 1:181,635,183...181,650,401
|
|
G |
Mapk3 |
mitogen activated protein kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
|
|
G |
Maz |
MYC associated zinc finger protein |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:181,629,742...181,635,193
Ensembl chr 1:181,629,729...181,650,408
|
|
G |
Mvp |
major vault protein |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:181,594,734...181,622,336
Ensembl chr 1:181,594,734...181,622,380
|
|
G |
Pagr1 |
Paxip1-associated glutamate-rich protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:181,622,708...181,624,996
|
|
G |
Ppp4c |
protein phosphatase 4, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:181,392,899...181,399,703
Ensembl chr 1:181,392,923...181,399,659
|
|
G |
Prrt2 |
proline-rich transmembrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:181,625,243...181,628,905
Ensembl chr 1:181,604,545...181,628,850
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G |
Qprt |
quinolinate phosphoribosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:181,718,189...181,733,486
Ensembl chr 1:181,718,190...181,733,486
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G |
Sez6l2 |
seizure related 6 homolog like 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:181,557,109...181,577,456
Ensembl chr 1:181,557,109...181,577,456
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G |
Spn |
sialophorin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:181,746,937...181,759,564
Ensembl chr 1:181,746,429...181,759,628
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G |
Taok2 |
TAO kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,475,708...181,494,738
Ensembl chr 1:181,475,711...181,494,613
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G |
Tbx6 |
T-box transcription factor 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:181,387,851...181,392,762
Ensembl chr 1:181,388,684...181,392,593
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G |
Tlcd3b |
TLC domain containing 3B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:181,421,104...181,439,744
Ensembl chr 1:181,422,830...181,439,743
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G |
Tmem219 |
transmembrane protein 219 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:181,496,194...181,509,258
Ensembl chr 1:181,496,192...181,534,472
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G |
Ypel3 |
yippee-like 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:181,384,385...181,387,706
Ensembl chr 1:181,384,357...181,387,705
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G |
Zg16 |
zymogen granule protein 16 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:181,657,722...181,660,079
Ensembl chr 1:181,657,722...181,660,079
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G |
Abr |
ABR activator of RhoGEF and GTPase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome |
ClinVar |
PMID:21681106 |
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NCBI chr10:61,262,516...61,461,331
Ensembl chr10:61,262,516...61,461,505
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G |
Bhlha9 |
basic helix-loop-helix family, member a9 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome |
ClinVar |
PMID:21681106 |
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NCBI chr10:61,513,609...61,514,301
Ensembl chr10:61,513,609...61,514,301
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G |
Crk |
CRK proto-oncogene, adaptor protein |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome |
ClinVar |
PMID:21681106 |
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NCBI chr10:60,530,469...60,556,703
Ensembl chr10:60,530,464...60,553,406
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G |
Trarg1 |
trafficking regulator of GLUT4 (SLC2A4) 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome |
ClinVar |
PMID:21681106 |
|
NCBI chr10:61,521,107...61,541,494
Ensembl chr10:61,521,107...61,541,494
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G |
Ywhae |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome |
ClinVar |
PMID:21681106 |
|
NCBI chr10:60,584,665...60,622,352
Ensembl chr10:60,584,652...60,671,589
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G |
Acp6 |
acid phosphatase 6, lysophosphatidic |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome |
ClinVar |
|
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NCBI chr 2:184,711,975...184,733,067
Ensembl chr 2:184,711,619...184,733,017
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G |
Bcl9 |
BCL9, transcription coactivator |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome |
ClinVar |
|
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NCBI chr 2:184,760,616...184,846,261
Ensembl chr 2:184,760,618...184,786,435
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G |
Chd1l |
chromodomain helicase DNA binding protein 1-like |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome |
ClinVar |
|
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NCBI chr 2:185,138,526...185,217,498
Ensembl chr 2:185,139,308...185,217,595
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G |
Fmo5 |
flavin containing dimethylaniline monoxygenase 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome |
ClinVar |
|
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NCBI chr 2:185,197,184...185,249,699
Ensembl chr 2:185,222,204...185,249,693
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G |
Gja5 |
gap junction protein, alpha 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome |
ClinVar |
|
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NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952
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G |
Gja8 |
gap junction protein, alpha 8 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome |
ClinVar |
|
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NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456
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G |
Gpr89b |
G protein-coupled receptor 89B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome |
ClinVar |
|
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NCBI chr 2:184,408,136...184,445,560
Ensembl chr 2:184,401,438...184,445,584
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G |
LOC120098377 |
U1 spliceosomal RNA |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome |
ClinVar |
|
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NCBI chr18:79,901,335...79,901,477
Ensembl chr18:79,901,335...79,901,477
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G |
Prkab2 |
protein kinase AMP-activated non-catalytic subunit beta 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome |
ClinVar |
|
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NCBI chr 2:185,257,218...185,272,846
Ensembl chr 2:185,257,213...185,269,872
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G |
Aifm3 |
apoptosis inducing factor, mitochondria associated 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr11:83,504,859...83,523,630
Ensembl chr11:83,504,861...83,521,248
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G |
Arvcf |
ARVCF, delta catenin family member |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,588,137...82,645,805
Ensembl chr11:82,587,881...82,645,805
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G |
Ccdc188 |
coiled-coil domain containing 188 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr11:82,769,735...82,772,062
Ensembl chr11:82,769,473...82,772,114
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G |
Cdc45 |
cell division cycle 45 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619
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G |
Cldn5 |
claudin 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,212,822...82,214,248
Ensembl chr11:82,211,475...82,214,992
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G |
Comt |
catechol-O-methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
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G |
Crkl |
CRK like proto-oncogene, adaptor protein |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr11:83,528,788...83,563,214
Ensembl chr11:83,526,530...83,563,238
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G |
Dgcr2 |
DiGeorge syndrome critical region gene 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr11:83,093,961...83,144,507
Ensembl chr11:83,094,037...83,144,502
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G |
Dgcr8 |
DGCR8 microprocessor complex subunit |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,704,673...82,737,251
Ensembl chr11:82,704,729...82,737,242
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G |
Ess2 |
ess-2 splicing factor homolog |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr11:83,075,893...83,085,849
Ensembl chr11:83,075,925...83,084,846
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G |
Gnb1l |
G protein subunit beta 1 like |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,425,301...82,507,836
Ensembl chr11:82,432,627...82,507,466
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G |
Gp1bb |
glycoprotein Ib platelet subunit beta |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
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G |
Gsc2 |
goosecoid homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr11:83,070,784...83,075,874
Ensembl chr11:83,072,138...83,074,126
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G |
Hira |
histone cell cycle regulator |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,024,469...82,133,212
Ensembl chr11:82,024,469...82,133,529
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G |
Klhl22 |
kelch-like family member 22 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr11:83,190,891...83,231,746
Ensembl chr11:83,190,891...83,231,770
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G |
LOC120095775 |
small nucleolar RNA SNORA77 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,749,967...82,750,091
Ensembl chr11:82,749,967...82,750,091
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G |
LOC498122 |
similar to CG15908-PA |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr11:82,155,992...82,160,235
Ensembl chr11:82,159,528...82,160,235
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G |
Lrrc74b |
leucine rich repeat containing 74B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr11:83,450,588...83,468,906
Ensembl chr11:83,450,624...83,468,922
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G |
Lztr1 |
leucine zipper like post translational regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
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G |
Med15 |
mediator complex subunit 15 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr11:83,280,722...83,356,006
Ensembl chr11:83,280,762...83,355,362
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G |
Mir1306 |
microRNA 1306 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,709,651...82,709,723
Ensembl chr11:82,709,637...82,709,719
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G |
Mir185 |
microRNA 185 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,664,716...82,664,795
Ensembl chr11:82,664,716...82,664,795
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G |
Mrpl40 |
mitochondrial ribosomal protein L40 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,133,398...82,139,234
Ensembl chr11:82,133,398...82,139,233
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G |
P2rx6 |
purinergic receptor P2X 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr11:83,439,922...83,450,449
Ensembl chr11:83,439,924...83,450,481
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G |
Pi4ka |
phosphatidylinositol 4-kinase alpha |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr11:83,609,136...83,726,876
Ensembl chr11:83,609,069...83,724,080
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G |
Ranbp1 |
RAN binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,742,603...82,750,836
Ensembl chr11:82,742,600...82,750,838
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G |
Rtn4r |
reticulon 4 receptor |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,844,585...82,869,012
Ensembl chr11:82,844,309...82,869,466
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G |
Scarf2 |
scavenger receptor class F, member 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr11:83,175,956...83,187,415
Ensembl chr11:83,175,963...83,187,348
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G |
Septin5 |
septin 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,373,601...82,379,393
Ensembl chr11:82,369,754...82,379,393
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G |
Serpind1 |
serpin family D member 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr11:83,664,517...83,675,593
Ensembl chr11:83,664,518...83,675,519
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G |
Slc25a1 |
solute carrier family 25 member 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr11:83,055,764...83,058,781
Ensembl chr11:83,055,748...83,058,781
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G |
Slc7a4 |
solute carrier family 7, member 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr11:83,435,093...83,439,078
Ensembl chr11:83,435,211...83,438,881
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G |
Snap29 |
synaptosome associated protein 29 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr11:83,578,479...83,608,953
Ensembl chr11:83,578,489...83,608,958
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G |
Tango2 |
transport and golgi organization 2 homolog |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574
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G |
Tbx1 |
T-box transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
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G |
Thap7 |
THAP domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr11:83,482,958...83,486,136
Ensembl chr11:83,483,037...83,486,436
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G |
Trmt2a |
tRNA methyltransferase 2 homolog A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,737,689...82,742,423
Ensembl chr11:82,737,689...82,742,336
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G |
Tssk2 |
testis-specific serine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr11:83,086,578...83,087,933
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G |
Txnrd2 |
thioredoxin reductase 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156
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G |
Ufd1 |
ubiquitin recognition factor in ER associated degradation 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,161,618...82,185,107
Ensembl chr11:82,161,619...82,185,087
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G |
Wfdc21 |
WAP four-disulfide core domain 21 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr10:68,627,836...68,633,705
Ensembl chr10:68,627,820...68,633,701
|
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G |
Zdhhc8 |
zinc finger DHHC-type palmitoyltransferase 8 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,755,110...82,769,280
Ensembl chr11:82,755,143...82,767,734
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G |
Zim1 |
zinc finger, imprinted 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:67,132,076...67,157,843
Ensembl chr 1:67,132,147...67,153,761
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G |
Acr |
acrosin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:120,636,581...120,644,474
Ensembl chr 7:120,638,321...120,644,474
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G |
Adm2 |
adrenomedullin 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:120,393,219...120,394,965
Ensembl chr 7:120,393,179...120,396,331
|
|
G |
Alg12 |
ALG12, alpha-1,6-mannosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:119,895,112...119,909,488
Ensembl chr 7:119,895,120...119,909,458
|
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G |
Arsa |
arylsulfatase A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783
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G |
Chkb |
choline kinase beta |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:120,500,960...120,504,359
Ensembl chr 7:120,500,984...120,504,461
|
|
G |
Cimap1b |
ciliary microtubule associated protein 1B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:120,444,232...120,447,383
Ensembl chr 7:120,444,232...120,446,749
|
|
G |
Cpt1b |
carnitine palmitoyltransferase 1B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:120,491,354...120,500,833
Ensembl chr 7:120,491,354...120,500,404
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G |
Creld2 |
cysteine-rich with EGF-like domains 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:119,909,626...119,916,556
Ensembl chr 7:119,909,633...119,916,543
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G |
Dennd6b |
DENN domain containing 6B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:120,261,679...120,273,667
Ensembl chr 7:120,261,679...120,273,494
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G |
Hdac10 |
histone deacetylase 10 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:120,199,126...120,205,850
Ensembl chr 7:120,199,129...120,204,228
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G |
Klhdc7b |
kelch domain containing 7B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 7:120,452,081...120,456,094
Ensembl chr 7:120,453,932...120,455,737
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G |
Lmf2 |
lipase maturation factor 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 7:120,418,343...120,422,825
Ensembl chr 7:120,418,345...120,422,823
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G |
Mapk11 |
mitogen-activated protein kinase 11 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:120,218,471...120,225,488
Ensembl chr 7:120,218,478...120,225,395
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G |
Mapk12 |
mitogen-activated protein kinase 12 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:120,206,005...120,216,711
Ensembl chr 7:120,206,271...120,216,664
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G |
Mapk8ip2 |
mitogen-activated protein kinase 8 interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:120,526,732...120,536,982
Ensembl chr 7:120,526,732...120,536,982
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G |
Miox |
myo-inositol oxygenase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:120,405,031...120,407,529
Ensembl chr 7:120,405,031...120,407,537
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G |
Mlc1 |
modulator of VRAC current 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:120,046,705...120,067,049
Ensembl chr 7:120,046,705...120,067,049
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G |
Mov10l1 |
Mov10 like RISC complex RNA helicase 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 7:120,070,171...120,135,406
Ensembl chr 7:120,070,135...120,134,765
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G |
Ncaph2 |
non-SMC condensin II complex, subunit H2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938
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G |
Panx2 |
pannexin 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:120,139,259...120,153,056
Ensembl chr 7:120,139,294...120,152,361
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G |
Pim3 |
Pim-3 proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:119,953,377...119,956,587
Ensembl chr 7:119,953,175...119,956,587
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G |
Plxnb2 |
plexin B2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:120,232,276...120,258,385
Ensembl chr 7:120,232,331...120,258,330
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G |
Ppp6r2 |
protein phosphatase 6, regulatory subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:120,285,378...120,356,995
Ensembl chr 7:120,285,406...120,356,395
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G |
Sbf1 |
SET binding factor 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:120,358,338...120,385,022
Ensembl chr 7:120,358,338...120,384,902
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G |
Selenoo |
selenoprotein O |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:120,167,913...120,178,806
Ensembl chr 7:120,167,913...120,178,805
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G |
Shank3 |
SH3 and multiple ankyrin repeat domains 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:120,568,707...120,630,796
Ensembl chr 7:120,570,402...120,630,374
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G |
Syce3 |
synaptonemal complex central element protein 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:120,456,800...120,482,882
Ensembl chr 7:120,456,800...120,482,973
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G |
Trabd |
TraB domain containing |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:120,155,042...120,166,015
Ensembl chr 7:120,155,042...120,166,015
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G |
Ttll8 |
tubulin tyrosine ligase like 8 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:120,000,638...120,046,556
Ensembl chr 7:120,001,794...120,045,075
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G |
Tubgcp6 |
tubulin, gamma complex associated protein 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:120,177,686...120,198,986
Ensembl chr 7:120,177,686...120,199,011
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G |
Tymp |
thymidine phosphorylase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874 Ensembl chr 7:120,438,770...120,443,874
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G |
Zbed4 |
zinc finger, BED-type containing 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 7:119,846,374...119,883,495
Ensembl chr 7:119,843,169...119,883,899
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G |
Cdhr2 |
cadherin-related family member 2 |
|
ISO |
ClinVar Annotator: match by term: 5q35 microduplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr17:9,876,853...9,913,356
Ensembl chr17:9,876,860...9,912,575
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G |
Eif4e1b |
eukaryotic translation initiation factor 4E family member 1B |
|
ISO |
ClinVar Annotator: match by term: 5q35 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr17:9,831,338...9,856,250
Ensembl chr17:9,832,230...9,835,137
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G |
Faf2 |
Fas associated factor family member 2 |
|
ISO |
ClinVar Annotator: match by term: 5q35 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr17:9,947,216...9,989,474
Ensembl chr17:9,947,220...9,989,485
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G |
Fgfr4 |
fibroblast growth factor receptor 4 |
|
ISO |
ClinVar Annotator: match by term: 5q35 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr17:9,461,541...9,476,268
Ensembl chr17:9,461,547...9,476,242
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G |
Gprin1 |
G protein-regulated inducer of neurite outgrowth 1 |
|
ISO |
ClinVar Annotator: match by term: 5q35 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr17:9,863,641...9,876,832
Ensembl chr17:9,863,571...9,876,915
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G |
Hk3 |
hexokinase 3 |
|
ISO |
ClinVar Annotator: match by term: 5q35 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr17:9,596,950...9,614,847
Ensembl chr17:9,599,865...9,614,863
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G |
Lman2 |
lectin, mannose-binding 2 |
|
ISO |
ClinVar Annotator: match by term: 5q35 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr17:9,269,236...9,286,923
Ensembl chr17:9,269,022...9,287,265
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G |
Mxd3 |
Max dimerization protein 3 |
|
ISO |
ClinVar Annotator: match by term: 5q35 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr17:9,301,430...9,305,156
Ensembl chr17:9,301,399...9,305,157
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G |
Nsd1 |
nuclear receptor binding SET domain protein 1 |
|
ISO |
ClinVar Annotator: match by term: 5q35 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
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G |
Prelid1 |
PRELI domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: 5q35 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr17:9,305,349...9,308,389
Ensembl chr17:9,305,361...9,308,407
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G |
Rab24 |
RAB24, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: 5q35 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr17:9,308,363...9,310,568
Ensembl chr17:9,308,525...9,310,553
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G |
Rgs14 |
regulator of G-protein signaling 14 |
|
ISO |
ClinVar Annotator: match by term: 5q35 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr17:9,248,982...9,263,104
Ensembl chr17:9,249,019...9,263,104
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G |
Rnf44 |
ring finger protein 44 |
|
ISO |
ClinVar Annotator: match by term: 5q35 microduplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr17:9,919,982...9,934,376
Ensembl chr17:9,919,993...9,932,193
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G |
Sncb |
synuclein, beta |
|
ISO |
ClinVar Annotator: match by term: 5q35 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012
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G |
Tspan17 |
tetraspanin 17 |
|
ISO |
ClinVar Annotator: match by term: 5q35 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr17:9,819,212...9,826,851
Ensembl chr17:9,819,202...9,826,834
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G |
Uimc1 |
ubiquitin interaction motif containing 1 |
|
ISO |
ClinVar Annotator: match by term: 5q35 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr17:9,523,793...9,592,810
Ensembl chr17:9,527,794...9,592,799
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G |
Unc5a |
unc-5 netrin receptor A |
|
ISO |
ClinVar Annotator: match by term: 5q35 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr17:9,614,841...9,670,558
Ensembl chr17:9,614,838...9,670,526
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G |
Zfp346 |
zinc finger protein 346 |
|
ISO |
ClinVar Annotator: match by term: 5q35 microduplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr17:9,493,789...9,523,681
Ensembl chr17:9,493,803...9,523,635
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G |
Nqo1 |
NAD(P)H quinone dehydrogenase 1 |
|
ISO |
associated with Myeloproliferative Disorders;DNA:missense mutation:cds:609C>T (human) |
RGD |
PMID:23643325 |
RGD:10769356 |
NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
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G |
Zrsr2 |
zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 |
|
ISO |
|
RGD |
PMID:28220884 |
RGD:151347177 |
NCBI chr X:30,547,424...30,571,613
Ensembl chr X:30,547,536...30,570,125
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G |
Huwe1 |
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 |
|
ISO |
ClinVar Annotator: match by term: HUWE1-Related Disorder |
ClinVar |
|
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NCBI chr X:20,871,278...21,001,378
Ensembl chr X:20,873,795...21,001,262
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G |
Arhgef6 |
Rac/Cdc42 guanine nucleotide exchange factor 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome |
ClinVar |
PMID:25712922 PMID:26935837 |
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NCBI chr X:135,145,447...135,264,636
Ensembl chr X:135,146,786...135,275,304
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G |
Brs3 |
bombesin receptor subtype 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome |
ClinVar |
PMID:26935837 |
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NCBI chr X:134,906,817...134,932,321
Ensembl chr X:134,906,784...134,930,983
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G |
Cd40lg |
CD40 ligand |
|
ISO |
ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome |
ClinVar |
PMID:25712922 PMID:26935837 |
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NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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G |
Gpr101 |
G protein-coupled receptor 101 |
|
ISO |
ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome |
ClinVar |
PMID:25712922 PMID:26935837 |
|
NCBI chr X:135,540,042...135,543,958
Ensembl chr X:135,540,042...135,543,958
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G |
Htatsf1 |
HIV-1 Tat specific factor 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome |
ClinVar |
PMID:26935837 |
|
NCBI chr X:134,935,426...134,949,607
Ensembl chr X:134,935,426...134,949,607
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G |
Rbmx |
RNA binding motif protein, X-linked |
|
ISO |
ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome |
ClinVar |
PMID:25712922 PMID:26935837 |
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NCBI chr X:135,305,237...135,314,806
Ensembl chr X:135,305,325...135,314,743
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G |
Vgll1 |
vestigial-like family member 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome |
ClinVar |
PMID:25712922 PMID:26935837 |
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NCBI chr X:134,979,657...134,996,007
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G |
Nectin1 |
nectin cell adhesion molecule 1 |
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ISO |
ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome 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:28492532 More...
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NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
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G |
Wdpcp |
WD repeat containing planar cell polarity effector |
|
ISO |
ClinVar Annotator: match by term: Heart defect - tongue hamartoma - polysyndactyly syndrome |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:20671153 PMID:25326635 PMID:25427950 PMID:25741868 PMID:27158779 PMID:28289185 PMID:28492532 More...
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NCBI chr14:95,645,955...95,977,120
Ensembl chr14:95,646,038...95,977,113
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G |
Actr1a |
actin related protein 1A |
|
ISO |
protein:decreased expression:cortex |
RGD |
PMID:11829462 |
RGD:13831340 |
NCBI chr 1:245,237,821...245,256,618
Ensembl chr 1:245,237,826...245,256,495
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G |
Alms1 |
ALMS1, centrosome and basal body associated protein |
|
ISO |
ClinVar Annotator: match by term: Complete trisomy 21 syndrome |
ClinVar |
PMID:28492532 PMID:30311386 |
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NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005
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G |
Arpc4 |
actin related protein 2/3 complex, subunit 4 |
|
ISO |
protein:decreased expression:cerebral cortex (human) |
RGD |
PMID:12054546 |
RGD:11570562 |
NCBI chr 4:146,522,255...146,532,784
Ensembl chr 4:146,522,176...146,532,785
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G |
Bnip1 |
BCL2 interacting protein 1 |
|
ISO |
mRNA:decreased expression:amniotic fluid cell: |
RGD |
PMID:15716609 |
RGD:14398459 |
NCBI chr10:16,386,876...16,399,124
Ensembl chr10:16,386,841...16,399,157
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G |
Brip1 |
BRCA1 interacting helicase 1 |
|
ISO |
protein:increased ubiquitination:frontal cortex (human) |
RGD |
PMID:25391381 |
RGD:11252150 |
NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324
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G |
Calca |
calcitonin-related polypeptide alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16289943 |
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NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105
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G |
Col11a2 |
collagen type XI alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: Complete trisomy 21 syndrome |
ClinVar |
PMID:28492532 PMID:30311386 |
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NCBI chr20:4,786,929...4,816,598
Ensembl chr20:4,786,929...4,815,985
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G |
Ctss |
cathepsin S |
|
ISO |
|
RGD |
PMID:7717452 |
RGD:5686914 |
NCBI chr 2:183,089,192...183,114,483
Ensembl chr 2:183,086,437...183,114,483
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G |
Dbn1 |
drebrin 1 |
|
ISO |
protein:decreased expression:frontal cortex, temporal cortex: |
RGD |
PMID:12009525 |
RGD:10398822 |
NCBI chr17:9,150,608...9,164,982
Ensembl chr17:9,150,659...9,164,984
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G |
Dyrk1a |
dual specificity tyrosine phosphorylation regulated kinase 1A |
treatment |
ISS ISO |
OMIM:190685 protein:increased expression:brain: |
MouseDO RGD |
PMID:23220201 PMID:18696092 PMID:28647555 |
RGD:14974030, RGD:14974029, RGD:14973377 |
NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420
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G |
Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
|
ISO |
protein:increased expression:brain |
RGD |
PMID:9714461 |
RGD:5688738 |
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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G |
Ercc3 |
ERCC excision repair 3, TFIIH core complex helicase subunit |
|
ISO |
mRNA:increased expression:brain (human) |
RGD |
PMID:10328528 |
RGD:13207452 |
NCBI chr18:23,883,613...23,914,326
Ensembl chr18:23,883,580...23,914,329
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G |
Fabp3 |
fatty acid binding protein 3 |
|
ISO |
protein:decreased expression:cerebral cortex (human) |
RGD |
PMID:15068254 |
RGD:1578460 |
NCBI chr 5:142,651,962...142,658,707
Ensembl chr 5:142,651,956...142,658,718
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G |
Gart |
phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase |
|
ISO |
protein:increased expression:cerebellum (human) |
RGD |
PMID:9328467 |
RGD:5143983 |
NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125
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G |
Gata1 |
GATA binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Complete trisomy 21 syndrome |
OMIM ClinVar |
PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:25741868 PMID:28492532 More...
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NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
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G |
Gdi2 |
GDP dissociation inhibitor 2 |
|
ISO |
protein:decreased expression:brain (human) |
RGD |
PMID:11771757 |
RGD:13208830 |
NCBI chr17:66,649,616...66,676,299
Ensembl chr17:66,649,619...66,676,366
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G |
Gstm2 |
glutathione S-transferase mu 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11771762 |
|
NCBI chr 2:195,624,015...195,628,774
Ensembl chr 2:195,544,426...195,628,961
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|
G |
Hnmt |
histamine N-methyltransferase |
|
ISO |
|
RGD |
PMID:11880199 |
RGD:5509779 |
NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012
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|
G |
Hspd1 |
heat shock protein family D (Hsp60) member 1 |
|
ISO |
|
RGD |
PMID:12515899 |
RGD:10402838 |
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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|
G |
Igfbp3 |
insulin-like growth factor binding protein 3 |
|
ISO |
protein:increased expression:blood: |
RGD |
PMID:9469274 |
RGD:12743600 |
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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|
G |
Kcnj6 |
potassium inwardly-rectifying channel, subfamily J, member 6 |
|
ISO |
protein:increased expression:hippocampus |
RGD |
PMID:22178330 |
RGD:6483052 |
NCBI chr11:34,061,705...34,309,128
Ensembl chr11:34,061,708...34,308,758
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|
G |
Mir125b2 |
microRNA 125b-2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29403643 |
|
NCBI chr11:16,245,620...16,245,707
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G |
Mir155 |
microRNA 155 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29403643 |
|
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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G |
Mir802 |
microRNA 802 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29403643 |
|
NCBI chr11:32,626,525...32,626,620
Ensembl chr11:32,626,525...32,626,620
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G |
Mir99a |
microRNA 99a |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29403643 |
|
NCBI chr11:16,200,443...16,200,523
Ensembl chr11:16,200,443...16,200,523
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|
G |
Mirlet7c1 |
microRNA let-7c-1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29403643 |
|
NCBI chr11:16,201,163...16,201,256
Ensembl chr11:16,201,158...16,201,265
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|
G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
|
RGD |
PMID:24519975 |
RGD:13204810 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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|
G |
Mthfd1 |
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 |
susceptibility no_association |
ISO |
DNA:SNP:cds:1958 G>A (rs2236225)(human) protein:increased expression:brain: DNA:SNP:cds:1958G>A(human) |
RGD |
PMID:25671679 PMID:15068241 PMID:22339736 |
RGD:12910959, RGD:12914150, RGD:12910960 |
NCBI chr 6:94,977,862...95,045,375
Ensembl chr 6:94,977,862...95,045,372
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|
G |
Mthfr |
methylenetetrahydrofolate reductase |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism DNA:SNPs:cds:c.677C>T,c.1298A>C (human) |
CTD RGD |
PMID:16353284 PMID:16489479 PMID:16845273 PMID:17431899 PMID:16489479 |
RGD:11565177 |
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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G |
Mtrr |
5-methyltetrahydrofolate-homocysteine methyltransferase reductase |
|
ISO |
ClinVar Annotator: match by term: Down syndrome, susceptibility to |
ClinVar |
PMID:9501215 PMID:10444342 PMID:10500018 PMID:10930360 PMID:12375236 PMID:12923861 PMID:15979034 PMID:25227144 PMID:25741868 PMID:28492532 More...
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|
NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
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G |
Myl7 |
myosin light chain 7 |
|
ISO |
|
RGD |
PMID:12083776 |
RGD:1580934 |
NCBI chr14:80,780,684...80,783,259
Ensembl chr14:80,779,776...80,783,244
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G |
Napb |
NSF attachment protein beta |
|
ISO |
protein:decreased expression:temporal cortex |
RGD |
PMID:11244216 |
RGD:10412652 |
NCBI chr 3:136,132,248...136,179,225
Ensembl chr 3:136,133,428...136,179,345
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G |
Ntf3 |
neurotrophin 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16289943 |
|
NCBI chr 4:158,914,984...158,984,453
Ensembl chr 4:158,914,957...158,984,596
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G |
Pcnt |
pericentrin |
|
ISO |
|
RGD |
PMID:23979692 PMID:22552340 |
RGD:11537399, RGD:11537404 |
NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710
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G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Down syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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|
G |
Prdx2 |
peroxiredoxin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11771762 |
|
NCBI chr19:23,180,927...23,186,217
Ensembl chr19:23,180,930...23,186,194
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G |
Prdx6 |
peroxiredoxin 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11771762 |
|
NCBI chr13:73,528,746...73,539,295
Ensembl chr13:73,528,210...73,539,355
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G |
Rcan1 |
regulator of calcineurin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15906378 |
|
NCBI chr11:31,622,208...31,702,150
Ensembl chr11:31,622,210...31,702,045
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G |
Reln |
reelin |
|
ISO |
protein: increased expression: brain |
RGD |
PMID:20025970 |
RGD:13207521 |
NCBI chr 4:12,736,177...13,162,956
Ensembl chr 4:12,736,130...13,162,211
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G |
Rnf212 |
ring finger protein 212 |
|
ISO |
ClinVar Annotator: match by term: Complete trisomy 21 syndrome |
ClinVar |
|
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NCBI chr14:949,397...988,377
Ensembl chr14:949,448...987,831
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G |
Rplp0 |
ribosomal protein lateral stalk subunit P0 |
|
IEP |
protein:increased expression:brain |
RGD |
PMID:25261685 |
RGD:11039463 |
NCBI chr12:41,054,363...41,057,632
Ensembl chr12:41,054,179...41,057,632
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G |
S100b |
S100 calcium binding protein B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12888777 |
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NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
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G |
Slc19a1 |
solute carrier family 19 member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16845273 PMID:17431899 |
|
NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972
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G |
Snap25 |
synaptosome associated protein 25 |
|
ISO |
|
RGD |
PMID:12499044 |
RGD:1579958 |
NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760
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G |
Sod1 |
superoxide dismutase 1 |
|
ISO |
human gene in a mouse model CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11181815 PMID:15464862 |
RGD:8655616 |
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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G |
Srsf4 |
serine and arginine rich splicing factor 4 |
|
ISO |
protein:increased expression:amniotic fluid (human) |
RGD |
PMID:16847874 |
RGD:11039402 |
NCBI chr 5:144,060,981...144,090,798
Ensembl chr 5:144,061,463...144,089,229
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G |
Timp1 |
TIMP metallopeptidase inhibitor 1 |
|
ISO |
|
RGD |
PMID:24519975 |
RGD:13204810 |
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
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G |
Tuba1a |
tubulin, alpha 1A |
|
ISO |
protein:decreased expression:brain: |
RGD |
PMID:21262400 |
RGD:12859084 |
NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186
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G |
Vip |
vasoactive intestinal peptide |
|
ISO |
mRNA:increased expression:brain CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16289943 PMID:19037032 |
RGD:5685613 |
NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
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G |
Nectin4 |
nectin cell adhesion molecule 4 |
|
ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia-syndactyly syndrome 1 |
OMIM ClinVar |
PMID:20691405 PMID:21346770 PMID:24577405 PMID:25529316 PMID:25741868 PMID:28492532 More...
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NCBI chr13:83,802,589...83,821,711
Ensembl chr13:83,803,184...83,821,709
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G |
Ckap2l |
cytoskeleton associated protein 2-like |
|
ISO |
ClinVar Annotator: match by term: Filippi syndrome |
OMIM ClinVar |
PMID:8867657 PMID:15365457 PMID:18553552 PMID:25439729 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:116,497,186...116,524,302
Ensembl chr 3:116,498,022...116,524,366
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G |
Fras1 |
Fraser extracellular matrix complex subunit 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cryptophthalmos with other malformations |
CTD ClinVar |
PMID:12766769 PMID:17163535 PMID:18671281 PMID:25741868 PMID:28492532 PMID:28844315 PMID:34246755 More...
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NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726
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G |
Frem1 |
Fras1 related extracellular matrix 1 |
|
ISS |
OMIM:219000 |
MouseDO |
|
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NCBI chr 5:97,321,275...97,469,523
Ensembl chr 5:97,322,538...97,469,543
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G |
Frem2 |
FRAS1 related extracellular matrix 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cryptophthalmos with other malformations |
CTD ClinVar |
PMID:17163535 PMID:25741868 |
|
NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
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G |
Grip1 |
glutamate receptor interacting protein 1 |
|
ISS |
OMIM:219000 |
MouseDO |
|
|
NCBI chr 7:54,934,856...55,592,274
Ensembl chr 7:54,934,250...55,592,273
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G |
Fras1 |
Fraser extracellular matrix complex subunit 1 |
|
ISO |
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Fraser syndrome 1 |
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:26893459 PMID:27280866 PMID:27859469 PMID:27884173 PMID:28492532 PMID:28844315 PMID:29261186 PMID:30639323 PMID:31319225 PMID:31738409 PMID:31999076 PMID:33726816 PMID:34246755 PMID:34974531 PMID:35005812 PMID:12766769 More...
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RGD:1598960 |
NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726
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G |
Frem2 |
FRAS1 related extracellular matrix 2 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 1 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26275891 PMID:28492532 |
|
NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
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G |
Grip1 |
glutamate receptor interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 7:54,934,856...55,592,274
Ensembl chr 7:54,934,250...55,592,273
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|
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G |
Frem2 |
FRAS1 related extracellular matrix 2 |
|
IAGP ISO |
ClinVar Annotator: match by term: Fraser syndrome 2 |
ClinVar OMIM RGD |
PMID:15838507 PMID:18203166 PMID:18671281 PMID:24115501 PMID:24700879 PMID:25741868 PMID:26275891 PMID:28492532 PMID:29618029 PMID:29688405 PMID:30143558 PMID:30773290 PMID:30802441 PMID:30838450 PMID:21756877 More...
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RGD:13464328 |
NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
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G |
Frem2fpl |
Fras1 related extracellular matrix protein 2;fpl mutant |
|
IAGP |
|
RGD |
PMID:21756877 |
RGD:13464328 |
|
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G |
Adamts14 |
ADAM metallopeptidase with thrombospondin type 1 motif, 14 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
|
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NCBI chr20:29,143,029...29,219,846
Ensembl chr20:29,144,354...29,219,866
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G |
Aipl1 |
aryl hydrocarbon receptor-interacting protein-like 1 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:24426771 PMID:28492532 |
|
NCBI chr10:56,655,693...56,664,922
Ensembl chr10:56,655,693...56,664,922
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G |
Aspa |
aspartoacylase |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:57,891,704...57,945,267
Ensembl chr10:57,892,104...57,945,272
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G |
Bclaf1 |
BCL2-associated transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
|
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NCBI chr 1:15,088,436...15,117,666
Ensembl chr 1:15,070,894...15,148,832
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G |
Borcs6 |
BLOC-1 related complex subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
|
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NCBI chr10:53,760,504...53,762,358
Ensembl chr10:53,758,093...53,762,632
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G |
Gnb5 |
G protein subunit beta 5 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
|
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NCBI chr 8:76,076,227...76,104,151
Ensembl chr 8:76,073,306...76,105,069
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G |
Grip1 |
glutamate receptor interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
OMIM ClinVar |
PMID:21383172 PMID:22510445 PMID:24033266 PMID:25741868 PMID:26539891 PMID:28492532 More...
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NCBI chr 7:54,934,856...55,592,274
Ensembl chr 7:54,934,250...55,592,273
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G |
Lsm10 |
LSM10, U7 small nuclear RNA associated |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
|
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NCBI chr 5:138,365,983...138,375,856
Ensembl chr 5:138,373,119...138,377,505
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G |
Med23 |
mediator complex subunit 23 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
|
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NCBI chr 1:20,490,315...20,558,461
Ensembl chr 1:20,490,315...20,537,463
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G |
Mpc1 |
mitochondrial pyruvate carrier 1 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
|
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NCBI chr 1:52,437,745...52,449,369
Ensembl chr 1:52,437,741...52,449,400
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G |
Myo18b |
myosin XVIIIb |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr12:43,747,003...43,953,694
Ensembl chr12:43,747,010...43,953,695
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G |
Odad1 |
outer dynein arm docking complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:96,392,132...96,420,926
Ensembl chr 1:96,394,824...96,420,925
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G |
Ptch1 |
patched 1 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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G |
Spata22 |
spermatogenesis associated 22 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr10:57,945,272...57,963,081
Ensembl chr10:57,932,187...57,963,081
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G |
Tlcd3a |
TLC domain containing 3A |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
|
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NCBI chr10:61,057,470...61,065,293
Ensembl chr10:61,058,042...61,065,283
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G |
Wdr81 |
WD repeat domain 81 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
|
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NCBI chr10:60,281,969...60,295,374
Ensembl chr10:60,281,972...60,295,296
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G |
Zxda |
zinc finger, X-linked, duplicated A |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
|
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NCBI chr X:59,760,871...59,766,310
Ensembl chr X:59,763,210...59,765,903
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G |
Adcy9 |
adenylate cyclase 9 |
|
ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:11,138,966...11,262,067
Ensembl chr10:11,139,446...11,262,066
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|
G |
Cdk13 |
cyclin-dependent kinase 13 |
|
ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome |
ClinVar |
PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 PMID:28492532 PMID:29236091 More...
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NCBI chr17:47,251,145...47,344,675
Ensembl chr17:47,251,163...47,341,721
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G |
Coro7 |
coronin 7 |
|
ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:10,880,299...10,941,001
Ensembl chr10:10,885,196...10,941,001
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G |
Crebbp |
CREB binding protein |
|
ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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|
G |
Dnaja3 |
DnaJ heat shock protein family (Hsp40) member A3 |
|
ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:10,855,510...10,880,175
Ensembl chr10:10,854,732...10,880,161
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|
G |
Dnase1 |
deoxyribonuclease 1 |
|
ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:11,498,930...11,505,151
Ensembl chr10:11,498,931...11,501,869
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|
G |
Gli3 |
GLI family zinc finger 3 |
|
ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome | ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome, severe | ClinVar Annotator: match by term: Polysyndactyly with peculiar skull shape DNA:mutations:exon, intron:multiple DNA:nonsense mutations, missense mutations, splice-site mutations:exon, intron:multiple DNA:mutations: :multiple CTD Direct Evidence: marker/mechanism |
OMIM ClinVar 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:18435847 PMID:19829694 PMID:20583172 PMID:20672375 PMID:22903559 PMID:24736735 PMID:25606469 PMID:25640679 PMID:25741868 PMID:26508445 PMID:27231705 PMID:28166811 PMID:28224613 PMID:28492532 PMID:29236091 PMID:30235038 PMID:30773290 PMID:32591344 PMID:33304378 PMID:34906502 PMID:15739154 PMID:10441342 PMID:24736735 PMID:22903559 More...
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RGD:12738222, RGD:12738208, RGD:12738205, RGD:12738141 |
NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
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Glis2 |
GLIS family zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr10:10,951,157...10,978,524
Ensembl chr10:10,951,371...10,971,578
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Inhba |
inhibin subunit beta A |
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ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome |
ClinVar |
PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 PMID:28492532 PMID:29236091 More...
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NCBI chr17:49,091,635...49,111,573
Ensembl chr17:49,095,920...49,108,982
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Mplkip |
M-phase specific PLK1 interacting protein |
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ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome |
ClinVar |
PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 PMID:28492532 PMID:29236091 More...
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NCBI chr17:47,373,624...47,376,199
Ensembl chr17:47,373,845...47,376,204
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Pam16 |
presequence translocase associated motor 16 |
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ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr10:10,942,534...10,950,654
Ensembl chr10:10,943,001...10,950,649
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Rala |
RAS like proto-oncogene A |
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ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome |
ClinVar |
PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 PMID:28492532 PMID:29236091 More...
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NCBI chr17:47,092,139...47,145,192
Ensembl chr17:47,092,207...47,144,063
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Srl |
sarcalumenin |
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ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr10:11,033,976...11,078,103
Ensembl chr10:11,034,035...11,078,101
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Sugct |
succinylCoA:glutarate-CoA transferase |
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ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome |
ClinVar |
PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 PMID:28492532 PMID:29236091 More...
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NCBI chr17:47,376,392...48,234,362
Ensembl chr17:47,376,521...48,234,376
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Tfap4 |
transcription factor AP-4 |
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ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr10:11,001,338...11,019,386
Ensembl chr10:11,002,911...11,019,386
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Trap1 |
TNF receptor-associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr10:11,464,882...11,498,931
Ensembl chr10:11,464,821...11,498,981
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Vasn |
vasorin |
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ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr10:10,917,750...10,928,259
Ensembl chr10:10,917,605...10,928,357
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Brca1 |
BRCA1, DNA repair associated |
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ISO |
ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 1 |
ClinVar |
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NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
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Brca2 |
BRCA2, DNA repair associated |
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ISO |
ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 1 |
ClinVar |
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NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
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Ctnna1 |
catenin alpha 1 |
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ISO |
ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 1 |
ClinVar |
PMID:28492532 PMID:32051609 |
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NCBI chr18:26,728,246...26,860,911
Ensembl chr18:26,728,485...26,860,910
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Scg5 |
secretogranin V |
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ISO |
ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 1 |
ClinVar |
PMID:22561515 |
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NCBI chr 3:100,544,101...100,588,558
Ensembl chr 3:100,544,099...100,588,463
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Anos1 |
anosmin 1 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
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NCBI chr10:68,561,954...68,562,801
Ensembl chr10:68,561,954...68,562,801
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Ccdc141 |
coiled-coil domain containing 141 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
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NCBI chr 3:61,948,614...62,109,968
Ensembl chr 3:61,948,646...62,110,079
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Chd7 |
chromodomain helicase DNA binding protein 7 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:15300250 PMID:16155193 PMID:18073582 PMID:20884005 PMID:21158681 PMID:22539353 PMID:25472840 PMID:25741868 PMID:28492532 More...
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NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
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Fgfr1 |
Fibroblast growth factor receptor 1 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:12627230 PMID:17200176 PMID:25636053 PMID:25741868 PMID:28492532 PMID:32853167 PMID:33548149 More...
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NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
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Gnrhr |
gonadotropin releasing hormone receptor |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:9371856 PMID:9425890 PMID:10022417 PMID:10084584 PMID:10690855 PMID:12574221 PMID:16968799 PMID:22724017 PMID:22745237 PMID:24732674 PMID:25741868 PMID:26207952 PMID:28492532 PMID:28611058 PMID:29182666 PMID:32870266 PMID:33223529 More...
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NCBI chr14:21,856,871...21,874,861
Ensembl chr14:21,856,871...21,874,861
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Hs6st1 |
heparan sulfate 6-O-sulfotransferase 1 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
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NCBI chr 9:38,283,502...38,322,684
Ensembl chr 9:38,282,395...38,322,683
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Kiss1r |
KISS1 receptor |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
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NCBI chr 7:9,785,135...9,790,283
Ensembl chr 7:9,785,135...9,788,793
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Nhlh2 |
nescient helix loop helix 2 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 PMID:35066646 |
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NCBI chr 2:189,444,287...189,449,625
Ensembl chr 2:189,442,711...189,449,625
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Nlgn3 |
neuroligin 3 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
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NCBI chr X:66,427,926...66,457,378
Ensembl chr X:66,429,458...66,451,876
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Plxna3 |
plexin A3 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
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NCBI chr X:152,115,699...152,131,608
Ensembl chr X:152,115,819...152,131,603
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Polr3b |
RNA polymerase III subunit B |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25339210 PMID:25741868 PMID:26045207 PMID:26204956 PMID:27512013 PMID:28492532 PMID:28589944 PMID:32319736 More...
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NCBI chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598
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Pou6f2 |
POU class 6 homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
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NCBI chr17:46,471,819...46,922,406
Ensembl chr17:46,472,181...46,921,039
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Prok2 |
prokineticin 2 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
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NCBI chr 4:132,346,681...132,361,754
Ensembl chr 4:132,347,103...132,361,385
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Sema3f |
semaphorin 3F |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
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NCBI chr 8:108,357,629...108,387,083
Ensembl chr 8:108,357,629...108,387,083
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Spry4 |
sprouty RTK signaling antagonist 4 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
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NCBI chr18:30,436,513...30,451,426
Ensembl chr18:30,436,443...30,453,004
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Tacr3 |
tachykinin receptor 3 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
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NCBI chr 2:223,266,536...223,363,791
Ensembl chr 2:223,266,536...223,363,791
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Wdr11 |
WD repeat domain 11 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:20887964 PMID:25741868 PMID:28492532 |
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NCBI chr 1:184,165,260...184,210,834
Ensembl chr 1:184,165,571...184,210,846
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Fgf10 |
fibroblast growth factor 10 |
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ISS ISO |
OMIM:149730 ClinVar Annotator: match by term: LACRIMOAURICULODENTODIGITAL SYNDROME | ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome |
MouseDO ClinVar |
PMID:16630169 PMID:17213838 PMID:25741868 PMID:26955834 PMID:28492532 |
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NCBI chr 2:50,801,897...50,875,428
Ensembl chr 2:50,800,992...50,876,866
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Fgfr2 |
fibroblast growth factor receptor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: LACRIMOAURICULODENTODIGITAL SYNDROME | ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome |
CTD ClinVar |
PMID:1641873 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8651276 PMID:8946174 PMID:8957519 PMID:9002682 PMID:9462761 PMID:9719378 PMID:10851026 PMID:11121055 PMID:11390973 PMID:11781872 PMID:12124745 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15975938 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16501574 PMID:16838304 PMID:17525745 PMID:18056630 PMID:18414213 PMID:18552176 PMID:20301628 PMID:21367659 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23787031 PMID:24016645 PMID:24127277 PMID:24489893 PMID:24728327 PMID:25157968 PMID:25741868 PMID:25867380 PMID:26380986 PMID:26467025 PMID:26619011 PMID:28492532 PMID:31145570 PMID:31502745 More...
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NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: LACRIMOAURICULODENTODIGITAL SYNDROME | ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome |
ClinVar |
PMID:1908846 PMID:7647778 PMID:7773297 PMID:8589699 PMID:8723106 PMID:8841188 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9677066 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10425034 PMID:10471491 PMID:10671061 PMID:10696568 PMID:10861678 PMID:11038465 PMID:11055896 PMID:11241532 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11879084 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15772091 PMID:15915095 PMID:16501574 PMID:16841094 PMID:17384684 PMID:17552943 PMID:17875876 PMID:18076102 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19381019 PMID:19749790 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20453470 PMID:21510009 PMID:22016144 PMID:22622662 PMID:24728327 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25728633 PMID:25741868 PMID:25809207 PMID:26619011 PMID:26740388 PMID:26818779 PMID:28483234 PMID:28492532 PMID:32238909 More...
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NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Fgfr2 |
fibroblast growth factor receptor 2 |
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ISO |
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OMIM |
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NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
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OMIM |
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NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Fgf10 |
fibroblast growth factor 10 |
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ISO |
ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 3 |
OMIM ClinVar |
PMID:15654336 PMID:16501574 PMID:16630169 |
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NCBI chr 2:50,801,897...50,875,428
Ensembl chr 2:50,800,992...50,876,866
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Bhlha9 |
basic helix-loop-helix family, member a9 |
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ISO |
ClinVar Annotator: match by term: Mesoaxial synostotic syndactyly with phalangeal reduction |
OMIM ClinVar |
PMID:9783716 PMID:15039974 PMID:25466284 PMID:25741868 PMID:28492532 |
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NCBI chr10:61,513,609...61,514,301
Ensembl chr10:61,513,609...61,514,301
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Ctcf |
CCCTC-binding factor |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome |
CTD ClinVar |
PMID:24056718 PMID:27993330 |
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NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123
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Dcaf7 |
DDB1 and CUL4 associated factor 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24056718 |
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NCBI chr10:90,974,095...90,996,275
Ensembl chr10:90,974,095...90,996,275
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Ezh2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24056718 |
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NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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Gata1 |
GATA binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome | ClinVar Annotator: match by term: Leukemia, megakaryoblastic, of Down syndrome |
ClinVar RGD |
PMID:12172547 PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:27993330 PMID:28492532 PMID:14636651 More...
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RGD:10450612 |
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
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Jak1 |
Janus kinase 1 |
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ISO |
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome |
ClinVar |
PMID:27993330 |
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NCBI chr 5:115,780,248...115,888,841
Ensembl chr 5:115,780,248...115,888,926
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Kansl1 |
KAT8 regulatory NSL complex subunit 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24056718 |
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NCBI chr10:89,237,667...89,368,735
Ensembl chr10:89,237,667...89,366,951
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Mfsd11 |
major facilitator superfamily domain containing 11 |
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ISO |
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome |
ClinVar |
PMID:27993330 |
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NCBI chr10:102,055,516...102,075,064
Ensembl chr10:102,056,051...102,075,064
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Nras |
NRAS proto-oncogene, GTPase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome |
CTD ClinVar |
PMID:2407301 PMID:2674680 PMID:2989702 PMID:8120410 PMID:16291983 PMID:17332249 PMID:17517660 PMID:18375819 PMID:18390968 PMID:19657110 PMID:19775298 PMID:20130576 PMID:20179705 PMID:21079152 PMID:23414587 PMID:23431193 PMID:24056718 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 More...
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NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
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ISO |
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome |
ClinVar |
PMID:15384080 PMID:16358218 PMID:24803665 PMID:25741868 PMID:27993330 PMID:28492532 More...
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NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Rad21 |
RAD21 cohesin complex component |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome |
CTD ClinVar |
PMID:24056718 PMID:27993330 |
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NCBI chr 7:83,287,867...83,314,810
Ensembl chr 7:83,287,870...83,314,817
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Srsf2 |
serine and arginine rich splicing factor 2 |
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ISO |
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome |
ClinVar |
PMID:27993330 |
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NCBI chr10:102,052,158...102,055,365
Ensembl chr10:102,052,314...102,055,338
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Stag2 |
STAG2 cohesin complex component |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24056718 |
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NCBI chr X:120,974,687...121,105,677
Ensembl chr X:120,974,857...121,105,677
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Tp53 |
tumor protein p53 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24056718 |
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NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Gja1 |
gap junction protein, alpha 1 |
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ISO |
DNA:missense mutation:cds:p.P59H (human) ClinVar Annotator: match by term: Oculodentodigital dysplasia 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) |
ClinVar CTD OMIM RGD |
PMID:220941 PMID:1057461 PMID:2309863 PMID:4209752 PMID:7815444 PMID:10331943 PMID:11470490 PMID:12457340 PMID:15108203 PMID:15192806 PMID:15551259 PMID:15637728 PMID:15879313 PMID:16155213 PMID:16211004 PMID:16378922 PMID:16531323 PMID:16709485 PMID:17256797 PMID:17420259 PMID:17509830 PMID:17687502 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:28492532 PMID:30628995 PMID:32318302 PMID:34630166 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 chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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G |
Gja1 |
gap junction protein, alpha 1 |
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ISO |
ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive |
OMIM ClinVar |
PMID:2309863 PMID:11146471 PMID:11470490 PMID:12457340 PMID:14729836 PMID:14974090 PMID:14981729 PMID:15192806 PMID:15879313 PMID:16531323 PMID:16813608 PMID:16816024 PMID:17509830 PMID:18003637 PMID:18079109 PMID:18946008 PMID:19057520 PMID:19338053 PMID:19615768 PMID:21215473 PMID:21670345 PMID:22090377 PMID:22179534 PMID:23103513 PMID:23304551 PMID:23465283 PMID:23606748 PMID:23951358 PMID:24115525 PMID:24508941 PMID:25327171 PMID:25388818 PMID:25398053 PMID:25741868 PMID:26537360 PMID:27226478 PMID:28492532 PMID:29927410 PMID:30628963 PMID:30628995 PMID:30631135 PMID:30653986 PMID:30811667 PMID:32318302 PMID:32449269 PMID:34630166 More...
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NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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G |
Tbc1d32 |
TBC1 domain family, member 32 |
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ISO |
ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive |
ClinVar |
PMID:28492532 |
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NCBI chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415
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G |
Nectin1 |
nectin cell adhesion molecule 1 |
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ISO |
ClinVar Annotator: match by term: Orofacial cleft 7 |
ClinVar |
PMID:10932188 PMID:11559849 |
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NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
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G |
Nedd4l |
NEDD4 like E3 ubiquitin protein ligase |
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ISO |
ClinVar Annotator: match by term: Periventricular nodular heterotopia 7 | ClinVar Annotator: match by term: Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay |
OMIM ClinVar |
PMID:25741868 PMID:27694961 PMID:28492532 PMID:28515470 PMID:32117442 PMID:32238909 More...
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NCBI chr18:58,393,759...58,726,709
Ensembl chr18:58,393,509...58,723,137
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
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ISO |
ClinVar Annotator: match by term: Acrocephalosyndactyly, type 5 | ClinVar Annotator: match by term: Pfeiffer syndrome |
OMIM ClinVar |
PMID:1456217 PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 PMID:11173846 PMID:14513299 PMID:14564217 PMID:14613973 PMID:15605412 PMID:15793702 PMID:16764984 PMID:16957473 PMID:18034870 PMID:23657145 PMID:23812909 PMID:24127277 PMID:24497711 PMID:25064402 PMID:25251565 PMID:25741868 PMID:26931467 PMID:26942290 PMID:28492532 PMID:31837199 More...
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NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
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G |
Fgfr2 |
fibroblast growth factor receptor 2 |
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ISO |
ClinVar Annotator: match by term: Acrocephalosyndactyly, type 5 | ClinVar Annotator: match by term: Pfeiffer syndrome DNA:mutations:CDS:multiple (human) DNA:SNPs, missense mutation:splice junction, CDS:multiple (human) |
OMIM ClinVar RGD |
PMID:1641873 PMID:7581378 PMID:7607643 PMID:7655462 PMID:7719333 PMID:7719344 PMID:7719345 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8434615 PMID:8528214 PMID:8644708 PMID:8650126 PMID:8651276 PMID:8755573 PMID:8946174 PMID:8957519 PMID:8958319 PMID:9002682 PMID:9150725 PMID:9385368 PMID:9462761 PMID:9475591 PMID:9531645 PMID:9536098 PMID:9586546 PMID:9605588 PMID:9700203 PMID:9714439 PMID:9719378 PMID:10076886 PMID:10076887 PMID:10394936 PMID:10406670 PMID:10541159 PMID:10633130 PMID:10851026 PMID:10874645 PMID:10945669 PMID:11121055 PMID:11325814 PMID:11390973 PMID:11781872 PMID:11807866 PMID:12124745 PMID:12400058 PMID:12884424 PMID:12884434 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15282208 PMID:15286168 PMID:15316116 PMID:15523615 PMID:15975938 PMID:15996217 PMID:16158432 PMID:16199547 PMID:16418739 PMID:16440883 PMID:16838304 PMID:17525745 PMID:17576681 PMID:17803937 PMID:18541976 PMID:18552176 PMID:18618990 PMID:19066959 PMID:20133659 PMID:20301628 PMID:20503384 PMID:20643727 PMID:21367659 PMID:22238366 PMID:22558232 PMID:22664175 PMID:23002168 PMID:23348274 PMID:23430493 PMID:23431754 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23754559 | |