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G |
Krt13 |
keratin 13 |
susceptibility |
ISO |
DNA:missense mutation: ; white sponge nevus, OMIM:193900 |
RGD |
PMID:7493031 |
RGD:1304472 |
NCBI chr10:85,052,122...85,056,032
Ensembl chr10:85,051,889...85,056,084
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G |
Krt4 |
keratin 4 |
susceptibility |
ISO |
DNA:deletion: ; white sponge nevus, OMIM:193900 |
RGD |
PMID:7493030 |
RGD:1600193 |
NCBI chr 7:133,046,067...133,052,027
Ensembl chr 7:133,046,515...133,052,019
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G |
Uba2 |
ubiquitin-like modifier activating enzyme 2 |
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ISO |
ClinVar Annotator: match by term: ACCES syndrome | ClinVar Annotator: match by term: APLASIA CUTIS CONGENITA WITH ECTRODACTYLY SKELETAL SYNDROME |
ClinVar OMIM |
PMID:11920840 PMID:25741868 PMID:28110515 PMID:28492532 PMID:31332306 PMID:31587267 PMID:32758660 PMID:34040189 More...
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NCBI chr 1:86,775,239...86,802,685
Ensembl chr 1:86,775,244...86,802,682
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
susceptibility |
ISO |
DNA:Polymorphism: :HLA-DRB1*14(human) |
RGD |
PMID:11369906 |
RGD:7365088 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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G |
Abcb6 |
ATP binding cassette subfamily B member 6 |
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ISO |
ClinVar Annotator: match by term: Acute intermittent porphyria | ClinVar Annotator: match by term: Hydroxymethylbilane Synthase Deficiency |
ClinVar |
PMID:22958180 PMID:24281366 PMID:25741868 PMID:28492532 |
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NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
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G |
Alas2 |
5'-aminolevulinate synthase 2 |
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ISO |
mRNA:increased expression:peripheral blood mononuclear cell (human) |
RGD |
PMID:23650938 |
RGD:18337288 |
NCBI chr X:19,463,146...19,486,526
Ensembl chr X:19,463,171...19,486,519
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G |
Cpox |
coproporphyrinogen oxidase |
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ISO |
ClinVar Annotator: match by term: Acute intermittent porphyria |
ClinVar |
PMID:28492532 |
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NCBI chr11:41,936,585...41,946,568
Ensembl chr11:41,936,591...41,946,746
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G |
Dpagt1 |
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 |
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ISO |
ClinVar Annotator: match by term: Acute intermittent porphyria | ClinVar Annotator: match by term: Porphyria, Swedish type |
ClinVar |
PMID:18414213 PMID:25741868 PMID:28492532 |
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NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087
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G |
Hmbs |
hydroxymethylbilane synthase |
severity treatment susceptibility |
ISO |
ClinVar Annotator: match by term: Abnormality of the heme biosynthetic pathway | ClinVar Annotator: match by term: Acute intermittent porphyria | ClinVar Annotator: match by term: Porphyria, Swedish type DNA:mutations:multiple DNA:mutations:multiple DNA:splice-site mutation, missense mutation:intron 9, exon 10: IVS9-1G>A, p.R201W (human) DNA:missense mutation:cds: p.R167Q (c.500G>A) (mouse) DNA:missense mutation:exon 10: p.R173W (173C>T) (human) human mRNA in a mouse model DNA:deletion:exon 12:669-698del (p.E223_L232del) (human) DNA:SNPs, deletion, haplotype:multiple DNA:missense mutation:cds: p.V215M (human) human gene in a mouse model DNA:SNPs, haplotype:multiple DNA:missense mutation:exon 10: p.R173W (c.517C>T) (human) DNA:transversion:intron:IVS11-3C>G (human) DNA:missense mutation:cd: p.A330P (human) CTD Direct Evidence: marker/mechanism DNA:transition, transversions:intron:IVS1+1G>A, +2T>A, +5C>G (human) |
ClinVar CTD OMIM RGD |
PMID:1301948 PMID:1427766 PMID:1496994 PMID:1577472 PMID:1714233 PMID:1961762 PMID:2025226 PMID:2227955 PMID:2243128 PMID:2789372 PMID:2864531 PMID:6132132 PMID:6985467 PMID:7635464 PMID:7757070 PMID:7962538 PMID:8081367 PMID:8096492 PMID:8168829 PMID:8262514 PMID:8262523 PMID:8268934 PMID:8270254 PMID:8270256 PMID:8401516 PMID:8565205 PMID:8772850 PMID:9067752 PMID:9199558 PMID:9225970 PMID:9238757 PMID:9281416 PMID:9350165 PMID:9463797 PMID:9536098 PMID:9702975 PMID:10408772 PMID:10453740 PMID:10494093 PMID:10502788 PMID:10782018 PMID:10944860 PMID:11055586 PMID:11399210 PMID:11831862 PMID:11857754 PMID:12357456 PMID:12372055 PMID:12566739 PMID:12773194 PMID:14970743 PMID:15003823 PMID:15469427 PMID:15534187 PMID:15643298 PMID:16025832 PMID:16199547 PMID:16211556 PMID:16817012 PMID:17298217 PMID:17576681 PMID:18414213 PMID:18627369 PMID:19138865 PMID:19267997 PMID:19292878 PMID:19401933 PMID:19460837 PMID:19656452 PMID:19656453 PMID:19694018 PMID:20301372 PMID:20978940 PMID:23815679 PMID:24997713 PMID:25016127 PMID:25118551 PMID:25637381 PMID:25741868 PMID:26075277 PMID:26095755 PMID:26582343 PMID:27507172 PMID:27539938 PMID:27558376 PMID:27849156 PMID:27884173 PMID:28492532 PMID:29360981 PMID:30740734 PMID:31044425 PMID:31073229 PMID:32581362 PMID:33445488 PMID:34089223 PMID:8563760 PMID:24997713 PMID:30385147 PMID:8270256 PMID:30615115 PMID:26071363 PMID:10453740 PMID:9455613 PMID:30297912 PMID:15469427 PMID:14757946 PMID:19138865 PMID:19656452 PMID:28990424 PMID:19656453 PMID:9523350 PMID:10667475 PMID:25870942 PMID:19664584 PMID:9860299 More...
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RGD:4145271, RGD:19165346, RGD:21079461, RGD:19165358, RGD:21079460, RGD:21079459, RGD:21079458, RGD:21079457, RGD:21079456, RGD:21079455, RGD:21079454, RGD:21079453, RGD:19165351, RGD:21079452, RGD:19165352, RGD:19165353, RGD:21079451, RGD:21079450, RGD:21079449, RGD:4144787 |
NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
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Ppox |
protoporphyrinogen oxidase |
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ISO |
DNA:missense mutation:exon:p.R59W (mouse) |
RGD |
PMID:11929050 |
RGD:4145363 |
NCBI chr13:83,697,661...83,701,998
Ensembl chr13:83,664,891...83,701,805
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G |
Hmbs |
hydroxymethylbilane synthase |
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ISO |
ClinVar Annotator: match by term: Porphyria, acute intermittent, nonerythroid variant |
ClinVar |
PMID:2511016 PMID:2563167 PMID:2915972 PMID:7757070 PMID:7962538 PMID:9199558 PMID:9860299 PMID:10343207 PMID:11071386 PMID:12406973 PMID:16199547 PMID:25923088 PMID:27539938 PMID:28492532 More...
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NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
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G |
Arhgap31 |
Rho GTPase activating protein 31 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adams-Oliver syndrome |
CTD ClinVar |
PMID:28492532 |
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NCBI chr11:62,038,635...62,151,564
Ensembl chr11:62,038,635...62,151,564
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G |
Dll4 |
delta like canonical Notch ligand 4 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adams-Oliver syndrome |
CTD ClinVar RGD |
PMID:26299364 PMID:29924900 PMID:33899511 |
RGD:155663357 |
NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931
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G |
Dock6 |
dedicator of cytokinesis 6 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adams-Oliver syndrome DNA:mutations:cds: |
CTD ClinVar RGD |
PMID:21820096 PMID:24033266 PMID:25558065 PMID:25824905 PMID:28492532 PMID:25824905 More...
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RGD:155791566 |
NCBI chr 8:20,342,089...20,394,660
Ensembl chr 8:20,342,089...20,394,552
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G |
Eogt |
EGF domain specific O-linked N-acetylglucosamine transferase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adams-Oliver syndrome |
CTD ClinVar |
PMID:23522784 PMID:25558065 PMID:25741868 |
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NCBI chr 4:129,718,897...129,756,558
Ensembl chr 4:129,718,901...129,756,445
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G |
Notch1 |
notch receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adams-Oliver syndrome |
CTD ClinVar |
PMID:24728327 PMID:25741868 PMID:28492532 |
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NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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G |
Rbpj |
recombination signal binding protein for immunoglobulin kappa J region |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr14:57,338,493...57,523,330
Ensembl chr14:57,338,507...57,523,353
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G |
Arhgap31 |
Rho GTPase activating protein 31 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 1 |
OMIM ClinVar |
PMID:474617 PMID:16451141 PMID:21565291 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29924900 More...
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NCBI chr11:62,038,635...62,151,564
Ensembl chr11:62,038,635...62,151,564
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G |
Dock6 |
dedicator of cytokinesis 6 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 1 |
ClinVar |
PMID:25741868 PMID:26457590 PMID:29924900 |
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NCBI chr 8:20,342,089...20,394,660
Ensembl chr 8:20,342,089...20,394,552
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G |
Dock6 |
dedicator of cytokinesis 6 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 2 |
OMIM ClinVar |
PMID:8849019 PMID:16199547 PMID:17159513 PMID:21820096 PMID:23522784 PMID:25091416 PMID:25558065 PMID:25741868 PMID:25824905 PMID:26457590 PMID:28135719 PMID:28492532 PMID:28884918 PMID:29924900 PMID:29961505 PMID:30111349 More...
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NCBI chr 8:20,342,089...20,394,660
Ensembl chr 8:20,342,089...20,394,552
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G |
Notch1 |
notch receptor 1 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 2 |
ClinVar |
PMID:18593716 PMID:20981092 PMID:25741868 PMID:28492532 PMID:29641532 PMID:30582441 More...
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NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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G |
Rbpj |
recombination signal binding protein for immunoglobulin kappa J region |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 3 |
OMIM ClinVar |
PMID:22883147 PMID:25741868 PMID:28492532 PMID:29924900 |
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NCBI chr14:57,338,493...57,523,330
Ensembl chr14:57,338,507...57,523,353
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G |
Eogt |
EGF domain specific O-linked N-acetylglucosamine transferase |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 4 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23522784 PMID:23860037 PMID:25488668 PMID:25558065 PMID:25741868 PMID:28492532 PMID:29924900 PMID:31368252 PMID:31654484 PMID:34782754 More...
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NCBI chr 4:129,718,897...129,756,558
Ensembl chr 4:129,718,901...129,756,445
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G |
Abca2 |
ATP binding cassette subfamily A member 2 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,244,515...8,264,545
Ensembl chr 3:8,244,639...8,264,537
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G |
Agpat2 |
1-acylglycerol-3-phosphate O-acyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,416,842...9,428,567
Ensembl chr 3:9,416,843...9,428,371
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G |
Ajm1 |
apical junction component 1 homolog |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,394,942...8,401,559
Ensembl chr 3:8,392,889...8,401,321
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G |
Anapc2 |
anaphase promoting complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,086,434...8,098,182
Ensembl chr 3:8,086,462...8,098,178
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G |
Arrdc1 |
arrestin domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,735,002...7,742,195
Ensembl chr 3:7,735,011...7,742,197
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G |
C8g |
complement C8 gamma chain |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,320,495...8,323,495
Ensembl chr 3:8,305,920...8,323,495
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G |
Cacna1b |
calcium voltage-gated channel subunit alpha1 B |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,380,892...7,546,104
Ensembl chr 3:7,380,922...7,546,091
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Camsap1 |
calmodulin regulated spectrin-associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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NCBI chr 3:8,746,176...8,806,072
Ensembl chr 3:8,746,176...8,806,072
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G |
Card9 |
caspase recruitment domain family, member 9 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237
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G |
Ccdc183 |
coiled-coil domain containing 183 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,428,784...8,438,948
Ensembl chr 3:8,428,787...8,437,194
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G |
Cimip2a |
ciliary microtubule inner protein 2A |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,030,548...8,038,370
Ensembl chr 3:8,033,246...8,037,961
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G |
Clic3 |
chloride intracellular channel 3 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,271,416...8,274,023
Ensembl chr 3:8,272,097...8,274,018
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G |
Col5a1 |
collagen type V alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:28492532 PMID:29907982 |
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NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
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G |
Cysrt1 |
cysteine rich tail 1 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,054,195...8,057,846
Ensembl chr 3:8,053,482...8,059,721
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G |
Dipk1b |
divergent protein kinase domain 1B |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,455,914...9,464,169
Ensembl chr 3:9,456,409...9,464,161
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G |
Dnlz |
DNL-type zinc finger |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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NCBI chr 3:9,169,948...9,171,881
Ensembl chr 3:9,169,793...9,180,551
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G |
Dph7 |
diphthamide biosynthesis 7 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,770,385...7,778,994
Ensembl chr 3:7,770,379...7,778,982
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G |
Dpp7 |
dipeptidylpeptidase 7 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,165,091...8,169,343
Ensembl chr 3:8,165,091...8,169,355
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G |
Edf1 |
endothelial differentiation-related factor 1 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,377,058...8,381,363
Ensembl chr 3:8,366,613...8,381,363
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G |
Egfl7 |
EGF-like-domain, multiple 7 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,404,622...9,416,879
Ensembl chr 3:9,407,520...9,416,879
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G |
Ehmt1 |
euchromatic histone lysine methyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,580,680...7,729,046
Ensembl chr 3:7,580,683...7,729,007
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G |
Entpd2 |
ectonucleoside triphosphate diphosphohydrolase 2 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,213,575...8,219,094
Ensembl chr 3:8,213,663...8,226,866
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G |
Entpd8 |
ectonucleoside triphosphate diphosphohydrolase 8 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,885,277...7,895,517
Ensembl chr 3:7,889,909...7,895,296
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G |
Entr1 |
endosome associated trafficking regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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NCBI chr 3:9,200,967...9,207,688
Ensembl chr 3:9,200,967...9,207,688
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G |
Fbxw5 |
F-box and WD repeat domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,322,543...8,327,092
Ensembl chr 3:8,322,543...8,327,092
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G |
Fcnb |
ficolin B |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:28492532 PMID:29907982 |
|
NCBI chr 3:11,393,771...11,402,198
Ensembl chr 3:11,393,739...11,402,151
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G |
Fut7 |
fucosyltransferase 7 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,237,687...8,242,273
Ensembl chr 3:8,239,384...8,242,260
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G |
Glt6d1 |
glycosyltransferase 6 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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NCBI chr 3:8,627,793...8,638,537
Ensembl chr 3:8,627,911...8,636,335
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G |
Gpsm1 |
G-protein signaling modulator 1 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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NCBI chr 3:9,140,816...9,167,828
Ensembl chr 3:9,128,636...9,167,827
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G |
Grin1 |
glutamate ionotropic receptor NMDA type subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603
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G |
Inpp5e |
inositol polyphosphate-5-phosphatase E |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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|
NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
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G |
Kcnt1 |
potassium sodium-activated channel subfamily T member 1 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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NCBI chr 3:8,682,964...8,736,615
Ensembl chr 3:8,682,113...8,736,667
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G |
Lcn1 |
lipocalin 1 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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|
NCBI chr 3:9,532,860...9,537,859
Ensembl chr 3:9,532,915...9,536,577
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G |
Lcn10 |
lipocalin 10 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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|
NCBI chr 3:8,490,781...8,494,334
Ensembl chr 3:8,490,781...8,494,333
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G |
Lcn12 |
lipocalin 12 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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|
NCBI chr 3:8,312,404...8,320,206
Ensembl chr 3:8,305,920...8,323,495
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G |
Lcn6 |
lipocalin 6 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,484,013...8,489,577
Ensembl chr 3:8,484,013...8,489,574
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|
G |
Lcn8 |
lipocalin 8 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,467,934...8,473,691
Ensembl chr 3:8,467,934...8,470,918
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G |
Lcn9 |
lipocalin 9 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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NCBI chr 3:8,644,427...8,646,782
Ensembl chr 3:8,636,548...8,652,200
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G |
Lhx3 |
LIM homeobox 3 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480
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G |
Lrrc26 |
leucine rich repeat containing 26 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,102,361...8,103,687
Ensembl chr 3:8,102,361...8,103,687
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G |
Mamdc4 |
MAM domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,382,387...8,391,003
Ensembl chr 3:8,382,387...8,391,003
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G |
Man1b1 |
mannosidase, alpha, class 1B, member 1 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,143,877...8,165,007
Ensembl chr 3:8,143,381...8,165,006
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G |
Mir126b |
microRNA 126b |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,415,087...9,415,159
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G |
Mrpl41 |
mitochondrial ribosomal protein L41 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,780,658...7,781,576
Ensembl chr 3:7,779,143...7,782,818
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G |
Mrps2 |
mitochondrial ribosomal protein S2 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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NCBI chr 3:11,801,310...11,806,341
Ensembl chr 3:11,801,310...11,806,313
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G |
Nacc2 |
NACC family member 2 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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NCBI chr 3:8,879,952...8,946,660
Ensembl chr 3:8,883,065...8,946,660
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G |
Ndor1 |
NADPH dependent diflavin oxidoreductase 1 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,062,629...8,070,873
Ensembl chr 3:8,062,630...8,070,860
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G |
Nelfb |
negative elongation factor complex member B |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,010,883...8,027,403
Ensembl chr 3:8,010,888...8,027,403
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G |
Notch1 |
notch receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
OMIM ClinVar |
PMID:1621771 PMID:9536098 PMID:15959515 PMID:16025100 PMID:16199547 PMID:16729972 PMID:17576681 PMID:17662764 PMID:18593716 PMID:19597493 PMID:19668216 PMID:20007775 PMID:20951801 PMID:20981092 PMID:21457232 PMID:22307742 PMID:22318994 PMID:23034536 PMID:23040356 PMID:23102684 PMID:23386033 PMID:23578328 PMID:23798201 PMID:24033266 PMID:24113472 PMID:24418111 PMID:24728327 PMID:25132448 PMID:25194568 PMID:25260786 PMID:25500235 PMID:25516202 PMID:25587027 PMID:25741868 PMID:25907466 PMID:25931334 PMID:25963545 PMID:26188975 PMID:26580448 PMID:26699486 PMID:26708639 PMID:26820064 PMID:26893459 PMID:27077170 PMID:27760138 PMID:27989580 PMID:27993330 PMID:28074886 PMID:28125082 PMID:28387797 PMID:28492532 PMID:28649221 PMID:28659821 PMID:28776427 PMID:28991257 PMID:29447731 PMID:29555671 PMID:29641532 PMID:29706348 PMID:29907982 PMID:29924900 PMID:30059548 PMID:30115950 PMID:30511478 PMID:30582441 PMID:30609409 PMID:30919572 PMID:31624253 PMID:31633846 PMID:31654484 PMID:31866570 PMID:32277046 PMID:32748548 PMID:33064175 PMID:33110418 PMID:33208564 PMID:33247628 PMID:33914609 PMID:33994118 PMID:34498425 PMID:35101336 PMID:35288444 More...
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NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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G |
Noxa1 |
NADPH oxidase activator 1 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,895,488...7,907,011
Ensembl chr 3:7,895,488...7,905,967
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G |
Npdc1 |
neural proliferation, differentiation and control, 1 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,220,446...8,226,446
Ensembl chr 3:8,213,663...8,226,866
|
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G |
Nrarp |
Notch-regulated ankyrin repeat protein |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,992,582...7,995,136
Ensembl chr 3:7,992,552...7,995,133
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G |
Nsmf |
NMDA receptor synaptonuclear signaling and neuronal migration factor |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,861,846...7,870,615
Ensembl chr 3:7,861,872...7,870,614
|
|
G |
Obp2a |
odorant binding protein 2A |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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|
NCBI chr 3:8,505,990...8,509,269
Ensembl chr 3:8,505,990...8,509,269
|
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G |
Olfm1 |
olfactomedin 1 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:28492532 PMID:29907982 |
|
NCBI chr 3:11,520,522...11,558,240
Ensembl chr 3:11,520,729...11,558,239
|
|
G |
Paep |
progestagen associated endometrial protein |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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|
NCBI chr 3:8,531,136...8,534,430
Ensembl chr 3:8,531,138...8,534,430
|
|
G |
Paxx |
PAXX, non-homologous end joining factor |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
|
|
NCBI chr 3:8,274,762...8,276,338
Ensembl chr 3:8,274,762...8,276,521
|
|
G |
Phpt1 |
phosphohistidine phosphatase 1 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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|
NCBI chr 3:8,392,926...8,394,325
|
|
G |
Pierce1 |
piercer of microtubule wall 1 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:28492532 PMID:29907982 |
|
NCBI chr 3:11,797,031...11,801,568
Ensembl chr 3:11,797,031...11,801,568
|
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G |
Pmpca |
peptidase, mitochondrial processing subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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|
NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844
|
|
G |
Pnpla7 |
patatin-like phospholipase domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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|
NCBI chr 3:7,782,572...7,861,504
Ensembl chr 3:7,782,572...7,861,497
|
|
G |
Ppp1r26 |
protein phosphatase 1, regulatory subunit 26 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:28492532 PMID:29907982 |
|
NCBI chr 3:11,781,504...11,790,076
Ensembl chr 3:11,781,295...11,790,073
|
|
G |
Ptgds |
prostaglandin D2 synthase |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,281,899...8,284,833
Ensembl chr 3:8,281,899...8,284,833
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G |
Qsox2 |
quiescin sulfhydryl oxidase 2 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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NCBI chr 3:9,034,994...9,064,649
Ensembl chr 3:9,034,994...9,064,664
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G |
Rabl6 |
RAB, member RAS oncogene family-like 6 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,402,666...8,428,588
Ensembl chr 3:8,402,672...8,428,611
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G |
Rnf208 |
ring finger protein 208 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,057,808...8,059,721
Ensembl chr 3:8,043,685...8,059,844
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G |
Rnf224 |
ring finger protein 224 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,050,353...8,052,861
Ensembl chr 3:8,051,475...8,051,945
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G |
Sapcd2 |
suppressor APC domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,186,089...8,195,119
Ensembl chr 3:8,187,266...8,192,546
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G |
Sec16a |
SEC16 homolog A, endoplasmic reticulum export factor |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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NCBI chr 3:9,229,687...9,264,837
Ensembl chr 3:9,229,687...9,264,273
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G |
Slc34a3 |
solute carrier family 34 member 3 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,044,294...8,050,034
Ensembl chr 3:8,044,296...8,049,970
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G |
Snapc4 |
small nuclear RNA activating complex, polypeptide 4 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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NCBI chr 3:9,182,061...9,200,819
Ensembl chr 3:9,182,067...9,199,518
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G |
Sohlh1 |
spermatogenesis and oogenesis specific basic helix-loop-helix 1 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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NCBI chr 3:8,662,995...8,667,521
Ensembl chr 3:8,663,318...8,667,388
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G |
Ssna1 |
SS nuclear autoantigen 1 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,084,949...8,086,417
Ensembl chr 3:8,084,974...8,086,356
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G |
Stpg3 |
sperm-tail PG-rich repeat containing 3 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,028,122...8,030,546
Ensembl chr 3:8,028,131...8,034,601
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G |
Tmem141 |
transmembrane protein 141 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,439,533...8,441,491
Ensembl chr 3:8,439,533...8,441,491
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G |
Tmem203 |
transmembrane protein 203 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,070,904...8,071,732
Ensembl chr 3:8,070,914...8,071,867
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G |
Tmem210 |
transmembrane protein 210 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,100,595...8,101,643
Ensembl chr 3:8,100,590...8,101,643
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G |
Tmem250 |
transmembrane protein 250 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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NCBI chr 3:8,962,657...8,966,349
Ensembl chr 3:8,962,657...8,966,349
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G |
Tor4a |
torsin family 4, member A |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,004,292...8,007,979
Ensembl chr 3:8,002,023...8,008,042
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G |
Tprn |
taperin |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,076,164...8,083,642
Ensembl chr 3:8,075,137...8,083,642
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G |
Traf2 |
Tnf receptor-associated factor 2 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,341,950...8,366,609
Ensembl chr 3:8,341,951...8,366,538
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G |
Tubb4b |
tubulin, beta 4B class IVb |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,037,844...8,040,294
Ensembl chr 3:8,037,799...8,040,296
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G |
Uap1l1 |
UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,172,335...8,180,505
Ensembl chr 3:8,173,216...8,180,443
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G |
Ubac1 |
UBA domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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NCBI chr 3:8,825,444...8,848,055
Ensembl chr 3:8,825,447...8,848,028
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G |
Zmynd19 |
zinc finger, MYND-type containing 19 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,758,086...7,778,982
Ensembl chr 3:7,758,133...7,767,514
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G |
Dll4 |
delta like canonical Notch ligand 4 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 6 |
OMIM ClinVar |
PMID:616589 PMID:25741868 PMID:26299364 PMID:28492532 PMID:29924900 PMID:32860008 More...
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NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931
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G |
Smarcad1 |
SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1` |
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ISO |
ClinVar Annotator: match by term: Adermatoglyphia |
OMIM ClinVar |
PMID:10631162 PMID:20619487 PMID:21820097 PMID:24909267 PMID:25741868 PMID:26932190 PMID:29409814 More...
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NCBI chr 4:94,311,441...94,379,184
Ensembl chr 4:94,311,489...94,372,563
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G |
Tp63 |
tumor protein p63 |
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ISO |
ClinVar Annotator: match by term: ADULT syndrome | ClinVar Annotator: match by term: Acro-dermato-ungual-lacrimal-tooth syndrome |
OMIM ClinVar |
PMID:8456838 PMID:8737655 PMID:9443880 PMID:9536098 PMID:11462173 PMID:11528512 PMID:11929852 PMID:16114047 PMID:16724007 PMID:16740912 PMID:17041931 PMID:17224651 PMID:17431922 PMID:17576681 PMID:18603493 PMID:18626511 PMID:19530185 PMID:19781362 PMID:20543567 PMID:21204238 PMID:24309930 PMID:25741868 PMID:27469932 PMID:28492532 More...
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NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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G |
Alad |
aminolevulinate dehydratase |
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ISO |
ClinVar Annotator: match by term: Porphobilinogen synthase deficiency | ClinVar Annotator: match by term: Porphyria, acute hepatic, digenic |
ClinVar OMIM |
PMID:513604 PMID:1569184 PMID:1716854 PMID:1905639 PMID:2063868 PMID:3684400 PMID:9536098 PMID:10519994 PMID:11071662 PMID:11342419 PMID:15303011 PMID:16398658 PMID:17236137 PMID:17576681 PMID:19015748 PMID:24033266 PMID:25741868 PMID:28492532 PMID:33199206 More...
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NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474
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G |
G6pd |
glucose-6-phosphate dehydrogenase |
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IEP |
protein:increased expression:liver |
RGD |
PMID:23390166 |
RGD:10449130 |
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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G |
Cabp4 |
calcium binding protein 4 |
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ISO |
ClinVar Annotator: match by term: Ocular albinism, type II |
ClinVar |
PMID:30718709 |
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NCBI chr 1:201,428,671...201,442,950
Ensembl chr 1:201,428,672...201,433,172
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G |
Cacna1f |
calcium voltage-gated channel subunit alpha1 F |
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ISO |
ClinVar Annotator: match by term: Ocular albinism, type II DNA:deletion:exon: |
OMIM ClinVar RGD |
PMID:9662399 PMID:11281458 PMID:14230113 PMID:16199547 PMID:17525176 PMID:22183355 PMID:22194652 PMID:24124559 PMID:25307992 PMID:25741868 PMID:26747767 PMID:26992781 PMID:28002560 PMID:28341476 PMID:28492532 PMID:28838317 PMID:30718709 PMID:30825406 PMID:17525176 More...
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RGD:13782379 |
NCBI chr X:14,868,096...14,896,413
Ensembl chr X:14,868,024...14,896,413
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G |
Whrn |
whirlin |
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ISO |
ClinVar Annotator: match by term: Ocular albinism, type II |
ClinVar |
PMID:28492532 PMID:30718709 |
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NCBI chr 5:76,828,308...76,911,945
Ensembl chr 5:76,828,301...76,912,223
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G |
Dct |
dopachrome tautomerase |
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ISO |
ClinVar Annotator: match by term: Albinism |
ClinVar |
PMID:33100333 |
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NCBI chr15:95,062,006...95,100,863
Ensembl chr15:95,062,003...95,100,836
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G |
Gpr143 |
G protein-coupled receptor 143 |
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ISO |
ClinVar Annotator: match by term: Albinism |
ClinVar |
PMID:8634705 PMID:28041643 |
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NCBI chr X:22,002,914...22,027,720
Ensembl chr X:22,002,914...22,027,715
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G |
Hps4 |
HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 |
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ISO |
ClinVar Annotator: match by term: Albinism |
ClinVar |
PMID:12664304 PMID:16199547 PMID:25741868 PMID:28492532 PMID:29600982 |
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NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632
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G |
Oca2 |
OCA2 melanosomal transmembrane protein |
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ISO |
ClinVar Annotator: match by term: Albinism |
ClinVar |
PMID:19060277 PMID:23824587 PMID:25741868 PMID:27734839 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28667292 PMID:28976636 PMID:29345414 PMID:32741191 More...
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NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074
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G |
Tyr |
tyrosinase |
treatment |
ISO IMP |
DNA:missense mutation:cds:p.H420R(mouse) ClinVar Annotator: match by term: Albinism |
ClinVar RGD |
PMID:666627 PMID:1429711 PMID:1820207 PMID:1832718 PMID:1899321 PMID:1903591 PMID:1970634 PMID:2903492 PMID:7704033 PMID:7849740 PMID:7955413 PMID:8434585 PMID:9158138 PMID:9163730 PMID:10766867 PMID:10987646 PMID:12753405 PMID:13680365 PMID:15146472 PMID:15381243 PMID:16517127 PMID:17952075 PMID:18326704 PMID:18463683 PMID:18488027 PMID:18488028 PMID:18821858 PMID:18925668 PMID:19060277 PMID:19208379 PMID:19533789 PMID:19626598 PMID:19865097 PMID:20301345 PMID:20861488 PMID:21541274 PMID:22294196 PMID:23504663 PMID:24033266 PMID:24721949 PMID:25216246 PMID:25741868 PMID:25919014 PMID:27734839 PMID:28041643 PMID:28266639 PMID:28378818 PMID:28451379 PMID:28492532 PMID:28629449 PMID:28976636 PMID:29345414 PMID:30472657 PMID:31077556 PMID:33223529 PMID:34008892 PMID:35803923 PMID:2567165 PMID:23409244 PMID:2112453 More...
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RGD:8694353, RGD:12792973, RGD:8694355 |
NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
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G |
Tyrem1Kyo |
tyrosinase; TALEN induced mutant1, Kyo |
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IMP |
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RGD |
PMID:23409244 |
RGD:12792973 |
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G |
Tyrp1 |
tyrosinase-related protein 1 |
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ISO |
ClinVar Annotator: match by term: Albinism |
ClinVar |
PMID:8651291 PMID:9345097 PMID:16199547 PMID:25741868 PMID:28041643 PMID:28492532 More...
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NCBI chr 5:95,280,982...95,299,516
Ensembl chr 5:95,280,982...95,299,516
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G |
Tp63 |
tumor protein p63 |
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ISO |
ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate | ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome DNA:missense mutations:exon:multiple CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:9536098 PMID:9774969 PMID:10886756 PMID:11159940 PMID:15200513 PMID:16740912 PMID:17576681 PMID:19239083 PMID:19353588 PMID:19676059 PMID:19793345 PMID:21615690 PMID:24309930 PMID:25741868 PMID:28492532 PMID:11159940 More...
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RGD:11568643 |
NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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G |
Krt1 |
keratin 1 |
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ISO |
ClinVar Annotator: match by term: Annular epidermolytic ichthyosis |
ClinVar |
PMID:8751983 PMID:10053007 PMID:14708600 PMID:15214894 PMID:22250628 PMID:25741868 PMID:28492532 PMID:30152556 PMID:31046801 More...
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NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
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G |
Krt10 |
keratin 10 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Annular epidermolytic ichthyosis |
CTD ClinVar |
PMID:22035476 PMID:25741868 PMID:28492532 |
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NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701
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G |
Krt10 |
keratin 10 |
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ISO |
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OMIM |
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NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701
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G |
Krt1 |
keratin 1 |
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ISO |
ClinVar Annotator: match by term: Ichthyosis, annular epidermolytic, 2 |
OMIM ClinVar |
PMID:10053007 PMID:15214894 PMID:22250628 PMID:25741868 PMID:28492532 PMID:30152556 More...
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NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
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G |
Acta2 |
actin alpha 2, smooth muscle |
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ISO |
ClinVar Annotator: match by term: Arterial tortuosity |
ClinVar |
PMID:25741868 |
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NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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G |
Efemp2 |
EGF containing fibulin extracellular matrix protein 2 |
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ISO |
DNA:missense mutation:CDS:p.D203A (human) |
RGD |
PMID:22943132 |
RGD:42722010 |
NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414
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G |
Emilin1 |
elastin microfibril interfacer 1 |
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ISO |
ClinVar Annotator: match by term: Arterial tortuosity |
ClinVar |
PMID:28492532 |
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NCBI chr 6:25,455,974...25,463,736
Ensembl chr 6:25,445,298...25,463,698
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G |
Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: Arterial tortuosity |
ClinVar |
PMID:25741868 |
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NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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G |
Mus81 |
MUS81 structure-specific endonuclease subunit |
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ISS |
OMIM:208050 |
MouseDO |
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NCBI chr 1:202,790,295...202,796,008
Ensembl chr 1:202,790,466...202,795,843
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G |
Slc2a10 |
solute carrier family 2 member 10 |
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ISO |
ClinVar Annotator: match by term: Arterial tortuosity syndrome |
OMIM ClinVar |
PMID:9536098 PMID:12801113 PMID:14569121 PMID:16199547 PMID:16550171 PMID:17163528 PMID:17576681 PMID:17935213 PMID:18565096 PMID:18774132 PMID:18818946 PMID:19028722 PMID:19622975 PMID:19781076 PMID:22488877 PMID:23142374 PMID:23410549 PMID:23494979 PMID:24033266 PMID:25326637 PMID:25373504 PMID:25741868 PMID:25907466 PMID:25944730 PMID:27153185 PMID:28492532 PMID:28726533 PMID:28829359 PMID:28855619 PMID:29323665 PMID:29543232 PMID:29907982 PMID:30090112 PMID:30425910 PMID:32368696 PMID:33144682 PMID:34668355 More...
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NCBI chr 3:154,240,395...154,252,690
Ensembl chr 3:154,240,391...154,252,690
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G |
Otof |
otoferlin |
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ISO |
ClinVar Annotator: match by term: Trichooculodermovertebral syndrome |
ClinVar |
PMID:35802133 PMID:36633841 |
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NCBI chr 6:25,928,018...26,024,631
Ensembl chr 6:25,928,055...26,024,631
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G |
Abcg5 |
ATP binding cassette subfamily G member 5 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 |
ClinVar |
PMID:26077881 |
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NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
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G |
Csrnp3 |
cysteine and serine rich nuclear protein 3 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,498,379...50,695,598
Ensembl chr 3:50,498,633...50,685,950
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G |
Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:28492532 PMID:29068549 More...
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NCBI chr 8:4,189,257...4,412,183
Ensembl chr 8:4,189,257...4,412,183
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G |
Dync2li1 |
dynein cytoplasmic 2 light intermediate chain 1 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:26077881 PMID:26130459 PMID:28492532 PMID:32815859 More...
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NCBI chr 6:9,992,537...10,025,403
Ensembl chr 6:9,992,541...10,025,336
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G |
Galnt3 |
polypeptide N-acetylgalactosaminyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268
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G |
Ift140 |
intraflagellar transport 140 |
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ISS |
OMIM:208500 |
MouseDO |
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NCBI chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433
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G |
Lbr |
lamin B receptor |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28600779 PMID:29068549 |
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NCBI chr13:93,539,360...93,564,065
Ensembl chr13:93,538,920...93,564,017
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G |
Nek1 |
NIMA-related kinase 1 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 |
ClinVar |
PMID:25741868 |
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NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723
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G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
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G |
Scn3a |
sodium voltage-gated channel alpha subunit 3 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119
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G |
Scn9a |
sodium voltage-gated channel alpha subunit 9 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
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G |
Ttc21b |
tetratricopeptide repeat domain 21B |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
CTD ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:25741868 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903
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G |
Wdr19 |
WD repeat domain 19 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:22019273 PMID:23559409 PMID:23683095 PMID:25741868 PMID:26275793 PMID:27241786 PMID:28492532 PMID:28973083 PMID:29068549 More...
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NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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G |
Wdr35 |
WD repeat domain 35 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:22486404 PMID:24033266 PMID:25741868 PMID:25914204 PMID:28332779 PMID:28492532 PMID:29068549 More...
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NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029
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G |
Ift80 |
intraflagellar transport 80 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17468754 PMID:17576681 PMID:19610081 PMID:19648123 PMID:21227999 PMID:23339108 PMID:25741868 PMID:28492532 PMID:29068549 PMID:30266093 PMID:30767363 More...
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NCBI chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024
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G |
Aasdhppt |
aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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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 |
Acat1 |
acetyl-CoA acetyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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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 |
Alg9 |
ALG9, alpha-1,2-mannosyltransferase |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 6:378,779...449,382
Ensembl chr 6:378,100...452,165
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G |
Amotl1 |
angiomotin-like 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:11,348,651...11,467,564
Ensembl chr 8:11,353,674...11,467,573
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G |
Ankrd49 |
ankyrin repeat domain 49 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:11,627,512...11,632,200
Ensembl chr 8:11,627,518...11,632,207
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G |
Arhgap20 |
Rho GTPase activating protein 20 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:52,074,472...52,155,739
Ensembl chr 8:52,074,158...52,155,739
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G |
Arhgap42 |
Rho GTPase activating protein 42 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:6,154,759...6,384,497
Ensembl chr 8:6,156,865...6,384,870
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G |
Atm |
ATM serine/threonine kinase |
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ISO IMP |
ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome DNA:deletion:exon: CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:133608 PMID:1098053 PMID:1160401 PMID:1300551 PMID:1632451 PMID:1739330 PMID:1849795 PMID:1943118 PMID:1953577 PMID:2166257 PMID:2491181 PMID:2557216 PMID:2677459 PMID:3149931 PMID:3217261 PMID:3280694 PMID:3338800 PMID:3347199 PMID:6504056 PMID:7792600 PMID:8321536 PMID:8659541 PMID:8665503 PMID:8698354 PMID:8755918 PMID:8789452 PMID:8797579 PMID:8808599 PMID:8845835 PMID:8923007 PMID:8958160 PMID:8968760 PMID:9000145 PMID:9043869 PMID:9054948 PMID:9121450 PMID:9150358 PMID:9244351 PMID:9259193 PMID:9288106 PMID:9334731 PMID:9443866 PMID:9450874 PMID:9450906 PMID:9463314 PMID:9488043 PMID:9497252 PMID:9536098 PMID:9537233 PMID:9600235 PMID:9622061 PMID:9682216 PMID:9711876 PMID:9733514 PMID:9764584 PMID:9792409 PMID:9792410 PMID:9872980 PMID:9887333 PMID:9892178 PMID:10023947 PMID:10234507 PMID:10330348 PMID:10397742 PMID:10416970 PMID:10425038 PMID:10464642 PMID:10534763 PMID:10677309 PMID:10706620 PMID:10738255 PMID:10767628 PMID:10817650 PMID:10864201 PMID:10873394 PMID:10980530 PMID:11054065 PMID:11078475 PMID:11173867 PMID:11298136 PMID:11382771 PMID:11443540 PMID:11468183 PMID:11505391 PMID:11507241 PMID:11507245 PMID:11516106 PMID:11526498 PMID:11606401 PMID:11746755 PMID:11756177 PMID:11756185 PMID:11805335 PMID:11821961 PMID:11826028 PMID:11830610 PMID:11839094 PMID:11849780 PMID:11857346 PMID:11889466 PMID:11897820 PMID:11897822 PMID:11996792 PMID:12072877 PMID:12091354 PMID:12105990 PMID:12149228 PMID:12195425 PMID:12362033 PMID:12400598 PMID:12473176 PMID:12473594 PMID:12497634 PMID:12511424 PMID:12552559 PMID:12552566 PMID:12637545 PMID:12646636 PMID:12655570 PMID:12673794 PMID:12673797 PMID:12673804 PMID:12697903 PMID:12708462 PMID:12745884 PMID:12810666 PMID:12815592 PMID:12882767 PMID:12883528 PMID:12917204 PMID:12935922 PMID:12935933 PMID:12969974 PMID:12970738 PMID:14562025 PMID:14576320 PMID:14586414 PMID:14627829 PMID:14634505 PMID:14643952 PMID:14654357 PMID:14695186 PMID:14695534 PMID:14695997 PMID:14706517 PMID:14735203 PMID:14754616 PMID:14970866 PMID:15039971 PMID:15042666 PMID:15054841 PMID:15101044 PMID:15159313 PMID:15164409 PMID:15174027 PMID:15177039 PMID:15196260 PMID:15217508 PMID:15279808 PMID:15280931 PMID:15390180 PMID:15450731 PMID:15498871 PMID:15629612 PMID:15643608 PMID:15696190 PMID:15713674 PMID:15756685 PMID:15824023 PMID:15824150 PMID:15843990 PMID:15880680 PMID:15880721 PMID:15928302 PMID:16014569 PMID:16029571 PMID:16035317 PMID:16112413 PMID:16140923 PMID:16167060 PMID:16189143 PMID:16199547 PMID:16238588 PMID:16266405 PMID:16380133 PMID:16387360 PMID:16411093 PMID:16461462 PMID:16574953 PMID:16603769 PMID:16622469 PMID:16631465 PMID:16652348 PMID:16741161 PMID:16832357 PMID:16864838 PMID:16914028 PMID:16941484 PMID:16953663 PMID:16958054 PMID:16998505 PMID:17000706 PMID:17001622 PMID:17001642 PMID:17023046 PMID:17124347 PMID:17132159 PMID:17166884 PMID:17187232 PMID:17203191 PMID:17293864 PMID:17298726 PMID:17333338 PMID:17341484 PMID:17344846 PMID:17351744 PMID:17376192 PMID:17389389 PMID:17393301 PMID:17490827 PMID:17502119 PMID:17517479 PMID:17535973 PMID:17540590 PMID:17576681 PMID:17600866 PMID:17623063 PMID:17640065 PMID:17699107 PMID:17876757 PMID:17910737 PMID:17968022 PMID:17985259 PMID:18066086 PMID:18164969 PMID:18174244 PMID:18261794 PMID:18321536 PMID:18384426 PMID:18414213 PMID:18431795 PMID:18433505 PMID:18497957 PMID:18502988 PMID:18504682 PMID:18560558 PMID:18565893 PMID:18573109 PMID:18575927 PMID:18634022 PMID:18701470 PMID:18807267 PMID:18813293 PMID:18846412 PMID:19018867 PMID:19081671 PMID:19147735 PMID:19347964 PMID:19404735 PMID:19431188 PMID:19440741 PMID:19535770 PMID:19605768 PMID:19638463 PMID:19683821 PMID:19691550 PMID:19705055 PMID:19763152 PMID:19770270 PMID:19773425 PMID:19779456 PMID:19781682 PMID:19823873 PMID:19931588 PMID:20051774 PMID:20077034 PMID:20111735 PMID:20124459 PMID:20153123 PMID:20232390 PMID:20301790 PMID:20305132 PMID:20307669 PMID:20308662 PMID:20346647 PMID:20480175 PMID:20544271 PMID:20678261 PMID:20717907 PMID:20826828 PMID:20840352 PMID:20927582 PMID:20945614 PMID:20966255 PMID:20981092 PMID:21150274 PMID:21164480 PMID:21346221 PMID:21354641 PMID:21396839 PMID:21445571 PMID:21447618 PMID:21459046 PMID:21514219 PMID:21520333 PMID:21593342 PMID:21665257 PMID:21665297 PMID:21681852 PMID:21778326 PMID:21787400 PMID:21792198 PMID:21833744 PMID:21893220 PMID:21910157 PMID:21933854 PMID:21965147 PMID:21993670 PMID:22006793 PMID:22017321 PMID:22071889 PMID:22130802 PMID:22146522 PMID:22200977 PMID:22213089 PMID:22234840 PMID:22250480 PMID:22345219 PMID:22354567 PMID:22369572 PMID:22406018 PMID:22420423 PMID:22438227 PMID:22527104 PMID:22529920 PMID:22585167 PMID:22585170 PMID:22649200 PMID:22674506 PMID:22763152 PMID:22869595 PMID:22895193 PMID:22927201 PMID:22927308 PMID:22952040 PMID:22995991 PMID:23074045 PMID:23075580 PMID:23091097 PMID:23114601 PMID:23142947 PMID:23143971 PMID:23211698 PMID:23242139 PMID:23264026 PMID:23322442 PMID:23360865 PMID:23369113 PMID:23376243 PMID:23454770 PMID:23509889 PMID:23532176 PMID:23555315 PMID:23561644 PMID:23566627 PMID:23585368 PMID:23585524 PMID:23612382 PMID:23632773 PMID:23640770 PMID:23652012 PMID:23667852 PMID:23671275 PMID:23726790 PMID:23761041 PMID:23774824 PMID:23807571 PMID:23810757 PMID:23836671 PMID:23946315 PMID:23960188 PMID:24033266 PMID:24088041 PMID:24090759 PMID:24113346 PMID:24120321 PMID:24142997 PMID:24172824 PMID:24197801 PMID:24201163 PMID:24204193 PMID:24325359 PMID:24326041 PMID:24356096 PMID:24368146 PMID:24405665 PMID:24416720 PMID:24422204 PMID:24448499 PMID:24506781 PMID:24512911 PMID:24549055 PMID:24556621 PMID:24568663 PMID:24628946 PMID:24643969 PMID:24667671 PMID:24682267 PMID:24695838 PMID:24728327 PMID:24733792 PMID:24763289 PMID:24789685 PMID:24825865 PMID:24831771 PMID:24834793 PMID:24853695 PMID:24886963 PMID:24920063 PMID:24935205 PMID:24951259 PMID:24954719 PMID:24970356 PMID:24983367 PMID:25032865 PMID:25037873 PMID:25040471 PMID:25042771 PMID:25058500 PMID:25077176 PMID:25101980 PMID:25117502 PMID:25122203 PMID:25133958 PMID:25148578 PMID:25151137 PMID:25159481 PMID:25182519 PMID:25186627 PMID:25231023 PMID:25232094 PMID:25257301 PMID:25275298 PMID:25303977 PMID:25318351 PMID:25320358 PMID:25326635 PMID:25326637 PMID:25330149 PMID:25356970 PMID:25374739 PMID:25428789 PMID:25452441 PMID:25460276 PMID:25479140 PMID:25480502 PMID:25502423 PMID:25503501 PMID:25523272 PMID:25525159 PMID:25572163 PMID:25587027 PMID:25589003 PMID:25600502 PMID:25614872 PMID:25625042 PMID:25640679 PMID:25741868 PMID:25749350 PMID:25793145 PMID:25862857 PMID:25877891 PMID:25882375 PMID:25892863 PMID:25914063 PMID:25925381 PMID:25925954 PMID:25938944 PMID:25957637 PMID:25980754 PMID:26009992 PMID:26010451 PMID:26022348 PMID:26023681 PMID:26053404 PMID:26085511 PMID:26094658 PMID:26098866 PMID:26112015 PMID:26123645 PMID:26155992 PMID:26164066 PMID:26181193 PMID:26182300 PMID:26193622 PMID:26206375 PMID:26207792 PMID:26214590 PMID:26220245 PMID:26238431 PMID:26246601 PMID:26247737 PMID:26250988 PMID:26270727 PMID:26296696 PMID:26296701 PMID:26317927 PMID:26320869 PMID:26344566 PMID:26380989 PMID:26439923 PMID:26466571 PMID:26467025 PMID:26483394 PMID:26506520 PMID:26517685 PMID:26530882 PMID:26534844 PMID:26556299 PMID:26580448 PMID:26628246 PMID:26630574 PMID:26633542 PMID:26633545 PMID:26635394 PMID:26658419 PMID:26662178 PMID:26667234 PMID:26677768 PMID:26681312 PMID:26689913 PMID:26692440 PMID:26693373 PMID:26757417 PMID:26771497 PMID:26774591 PMID:26778106 PMID:26786923 PMID:26787654 PMID:26822949 PMID:26824983 PMID:26837699 PMID:26845104 PMID:26846839 PMID:26854966 PMID:26878173 PMID:26896183 PMID:26898890 PMID:26901136 PMID:26911350 PMID:26915675 PMID:26917275 PMID:26976419 PMID:27016235 PMID:27034805 PMID:27039262 PMID:27043212 PMID:27064202 PMID:27067391 PMID:27083775 PMID:27093186 PMID:27097373 PMID:27121310 PMID:27146902 PMID:27149842 PMID:27150160 PMID:27153395 PMID:27159176 PMID:27175599 PMID:27200287 PMID:27224988 PMID:27276934 PMID:27304073 PMID:27322425 PMID:27365426 PMID:27375234 PMID:27413114 PMID:27433846 PMID:27443514 PMID:27449771 PMID:27460089 PMID:27468087 PMID:27479817 PMID:27484032 PMID:27498913 PMID:27528516 PMID:27535334 PMID:27553368 PMID:27568332 PMID:27581129 PMID:27595995 PMID:27599564 PMID:27602502 PMID:27613453 PMID:27616075 PMID:27621404 PMID:27664052 PMID:27671921 PMID:27720647 PMID:27732944 PMID:27756406 PMID:27779110 PMID:27782108 PMID:27798748 PMID:27803004 PMID:27844328 PMID:27871447 PMID:27873105 PMID:27878467 PMID:27884168 PMID:27896999 PMID:27913932 PMID:27932211 PMID:27959900 PMID:27978560 PMID:27980538 PMID:27988859 PMID:27989354 PMID:27997549 PMID:28007021 PMID:28008555 PMID:28051113 PMID:28054583 PMID:28055970 PMID:28076423 PMID:28087566 PMID:28093192 PMID:28093616 PMID:28119368 PMID:28120234 PMID:28123174 PMID:28125075 PMID:28126470 PMID:28135048 PMID:28135145 PMID:28139868 PMID:28152038 PMID:28170084 PMID:28182994 PMID:28195393 PMID:28196074 PMID:28202063 PMID:28211887 PMID:28259476 PMID:28281021 PMID:28281318 PMID:28282032 PMID:28338653 PMID:28423360 PMID:28423363 PMID:28423702 PMID:28440963 PMID:28451460 PMID:28486781 PMID:28488180 PMID:28492530 PMID:28492532 PMID:28497333 PMID:28503720 PMID:28508083 PMID:28528518 PMID:28569218 PMID:28580595 PMID:28591191 PMID:28608266 PMID:28640387 PMID:28652578 PMID:28657667 PMID:28687356 PMID:28687971 PMID:28716242 PMID:28717660 PMID:28724667 PMID:28726808 PMID:28767289 PMID:28779002 PMID:28825054 PMID:28828701 PMID:28830922 PMID:28843361 PMID:28849312 PMID:28873162 PMID:28875981 PMID:28878254 PMID:28894253 PMID:28898322 PMID:28956312 PMID:28975018 PMID:28975465 PMID:29036293 PMID:29053726 PMID:29058119 PMID:29059438 PMID:29101607 PMID:29127364 PMID:29141312 PMID:29144541 PMID:29163336 PMID:29263802 PMID:29271107 PMID:29335925 PMID:29356034 PMID:29360161 PMID:29368341 PMID:29371908 PMID:29415044 PMID:29423082 PMID:29449433 PMID:29458332 PMID:29470806 PMID:29478780 PMID:29482223 PMID:29486991 PMID:29487225 PMID:29492593 PMID:29506079 PMID:29506128 PMID:29522266 PMID:29555025 PMID:29555771 PMID:29596542 PMID:29600275 PMID:29625052 PMID:29641532 PMID:29642553 PMID:29659569 PMID:29659587 PMID:29664460 PMID:29665859 PMID:29667044 PMID:29678143 PMID:29684080 PMID:29719442 PMID:29731985 PMID:29752822 PMID:29753700 PMID:29754934 PMID:29778231 PMID:29785153 PMID:29789584 PMID:29866652 PMID:29888287 PMID:29895855 PMID:29905759 PMID:29906526 PMID:29909963 PMID:29915322 PMID:29915382 PMID:29922827 PMID:29945567 PMID:29946849 PMID:29954938 PMID:29958926 PMID:29961768 PMID:29967250 PMID:30067863 PMID:30086788 PMID:30093976 PMID:30124550 PMID:30128536 PMID:30154229 PMID:30181556 PMID:30192042 PMID:30197789 PMID:30214756 PMID:30233647 PMID:30253992 PMID:30256826 PMID:30262796 PMID:30267214 PMID:30274973 PMID:30283815 PMID:30287823 PMID:30303537 PMID:30306255 PMID:30309722 PMID:30311369 PMID:30322717 PMID:30338439 PMID:30339652 PMID:30340782 PMID:30363071 PMID:30374176 PMID:30385609 PMID:30389154 PMID:30402232 PMID:30413523 PMID:30420857 PMID:30426508 PMID:30441849 PMID:30447919 PMID:30455982 PMID:30482293 PMID:30504431 PMID:30537493 PMID:30541756 PMID:30549301 PMID:30553997 PMID:30563988 PMID:30579816 PMID:30584090 PMID:30607632 PMID:30612635 PMID:30613976 PMID:30620386 PMID:30625039 PMID:30639167 PMID:30651582 PMID:30662270 PMID:30666157 PMID:30697212 PMID:30713859 PMID:30713931 PMID:30716324 PMID:30723761 PMID:30730459 PMID:30772474 PMID:30814645 PMID:30816533 PMID:30819809 PMID:30833958 PMID:30851086 PMID:30883245 PMID:30888062 PMID:30927251 PMID:30938815 PMID:30957677 PMID:30963573 PMID:30982232 PMID:30995915 PMID:31050087 PMID:31054420 PMID:31056428 PMID:31097817 PMID:31101757 PMID:31118792 PMID:31125277 PMID:31130284 PMID:31139954 PMID:31159747 PMID:31160347 PMID:31169336 PMID:31173646 PMID:31173964 PMID:31206626 PMID:31214250 PMID:31214711 PMID:31216378 PMID:31227566 PMID:31248605 PMID:31263571 PMID:31273614 PMID:31275557 PMID:31285527 PMID:31319225 PMID:31325073 PMID:31341520 PMID:31350202 PMID:31352369 PMID:31360874 PMID:31382929 PMID:31403082 PMID:31407689 PMID:31415627 PMID:31422574 PMID:31428572 PMID:31429931 PMID:31432501 PMID:31447099 PMID:31465090 PMID:31470354 PMID:31472684 PMID:31497750 PMID:31589614 PMID:31611883 PMID:31617914 PMID:31638252 PMID:31642931 PMID:31658756 PMID:31666926 PMID:31671381 PMID:31691010 PMID:31704732 PMID:31719806 PMID:31729406 PMID:31731261 PMID:31740029 PMID:31741144 PMID:31742824 PMID:31754145 PMID:31776720 PMID:31780696 PMID:31780705 PMID:31784482 PMID:31784493 PMID:31794323 PMID:31811167 PMID:31815095 PMID:31843900 PMID:31867841 PMID:31871109 PMID:31874108 PMID:31882575 PMID:31911633 PMID:31919090 PMID:31920950 PMID:31921190 PMID:31921681 PMID:31942411 PMID:31948886 PMID:31966388 PMID:31970404 PMID:32002120 PMID:32008151 PMID:32019284 PMID:32039725 PMID:32066632 PMID:32068069 PMID:32081490 PMID:32091409 PMID:32107087 PMID:32125938 PMID:32133419 PMID:32172615 PMID:32183301 PMID:32183364 PMID:32255556 PMID:32283892 PMID:32295079 PMID:32325837 PMID:32338768 PMID:32365829 PMID:32368696 PMID:32427313 PMID:32471518 PMID:32488064 PMID:32521533 PMID:32522261 PMID:32531373 PMID:32566746 PMID:32601921 PMID:32606146 PMID:32658311 PMID:32659497 PMID:32676327 PMID:32694154 PMID:32748564 PMID:32754152 PMID:32756499 PMID:32772458 PMID:32775531 PMID:32782288 PMID:32810930 PMID:32830346 PMID:32832836 PMID:32842532 PMID:32853339 PMID:32854451 PMID:32860008 PMID:32866190 PMID:32866655 PMID:32885271 PMID:32888943 PMID:32901917 PMID:32906206 PMID:32918381 PMID:32923906 PMID:32936981 PMID:32957588 PMID:32958592 PMID:32959997 PMID:32963463 PMID:32973888 PMID:32980694 PMID:32984025 PMID:32986223 PMID:32994724 PMID:32999401 PMID:33011440 PMID:33047316 PMID:33050356 PMID:33054084 PMID:33084218 PMID:33095795 PMID:33098801 PMID:33128190 PMID:33134171 PMID:33150793 PMID:33163394 PMID:33176972 PMID:33181636 PMID:33191115 PMID:33206719 PMID:33280026 PMID:33302456 PMID:33309985 PMID:33332384 PMID:33376610 PMID:33395407 PMID:33421217 PMID:33436325 PMID:33442023 PMID:33471991 PMID:33479248 PMID:33509806 PMID:33544757 PMID:33547824 PMID:33552952 PMID:33558524 PMID:33588785 PMID:33606809 PMID:33608381 PMID:33630411 PMID:33646313 PMID:33747920 PMID:33750258 PMID:33785725 PMID:33804961 PMID:33850299 PMID:33875564 PMID:33893081 PMID:33919281 PMID:33939675 PMID:33980423 PMID:34008015 PMID:34067464 PMID:34130653 PMID:34204722 PMID:34250389 PMID:34250417 PMID:34262154 PMID:34270679 PMID:34283047 PMID:34284872 PMID:34299313 PMID:34359559 PMID:34371384 PMID:34377931 PMID:34399810 PMID:34426522 PMID:34433815 PMID:34445196 PMID:34453918 PMID:34570441 PMID:34573280 PMID:34600502 PMID:34606182 PMID:34646395 PMID:34653963 PMID:34654685 PMID:34663476 PMID:34761457 PMID:34771661 PMID:34820595 PMID:34873480 PMID:34884835 PMID:34994613 PMID:35039564 PMID:35047863 PMID:35078243 PMID:35145552 PMID:35186721 PMID:35201558 PMID:35245693 PMID:35260754 PMID:35264596 PMID:35284771 PMID:35309086 PMID:35365198 PMID:35402282 PMID:35467778 PMID:35483985 PMID:35534218 PMID:35666082 PMID:35716007 PMID:35806449 PMID:35892882 PMID:35893033 PMID:35980532 PMID:36200007 PMID:36988593 PMID:197781682 PMID:19626507 PMID:28007901 More...
|
RGD:10053611, RGD:12879399 |
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
|
|
G |
Atmem1Kyo |
ATM serine/threonine kinase; ZFN induced mutant 1, Kyo |
|
IMP |
|
RGD |
PMID:28007901 |
RGD:12879399 |
|
|
G |
Bak1 |
BCL2-antagonist/killer 1 |
|
ISO |
DNA:mutation:exon:c.342C>T(human) |
RGD |
PMID:19898928 |
RGD:14394817 |
NCBI chr20:5,100,480...5,109,669
Ensembl chr20:5,100,480...5,109,264
|
|
G |
Bax |
BCL2 associated X, apoptosis regulator |
susceptibility |
ISO |
DNA:mutations:introns:IVS1146C>T, IVS3+14A>G(human) |
RGD |
PMID:19898928 |
RGD:14394817 |
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
|
|
G |
Bik |
BCL2-interacting killer |
susceptibility |
ISO |
DNA:deletion:intron:IVS4-12delTC(human) |
RGD |
PMID:19898928 |
RGD:14394817 |
NCBI chr 7:114,672,277...114,691,296
Ensembl chr 7:114,672,277...114,691,296
|
|
G |
Birc2 |
baculoviral IAP repeat-containing 2 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732
|
|
G |
Birc3 |
baculoviral IAP repeat-containing 3 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
|
|
G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:16439621 PMID:16474404 PMID:18039235 PMID:18413255 PMID:18953432 PMID:19206169 PMID:22495831 PMID:24446311 PMID:24920063 PMID:25157968 PMID:25348715 PMID:25741868 PMID:26732095 PMID:27276561 PMID:28492532 PMID:28524057 PMID:28947956 PMID:31475041 More...
|
|
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
|
|
G |
Btg4 |
BTG anti-proliferation factor 4 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:51,410,774...51,425,802
Ensembl chr 8:51,422,061...51,425,796
|
|
G |
C8h11orf52 |
similar to human chromosome 11 open reading frame 52 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:51,081,342...51,088,333
Ensembl chr 8:51,081,342...51,094,533
|
|
G |
C8h11orf65 |
similar to human chromosome 11 open reading frame 65 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome |
ClinVar |
PMID:1098053 PMID:1160401 PMID:1849795 PMID:1943118 PMID:2166257 PMID:2557216 PMID:3338800 PMID:6504056 PMID:7792600 PMID:8659541 PMID:8665503 PMID:8698354 PMID:8755918 PMID:8797579 PMID:8808599 PMID:8845835 PMID:8923007 PMID:9000145 PMID:9043869 PMID:9054948 PMID:9150358 PMID:9244351 PMID:9259193 PMID:9288106 PMID:9334731 PMID:9443866 PMID:9450874 PMID:9450906 PMID:9463314 PMID:9488043 PMID:9497252 PMID:9536098 PMID:9537233 PMID:9622061 PMID:9682216 PMID:9711876 PMID:9733514 PMID:9764584 PMID:9792409 PMID:9792410 PMID:9872980 PMID:9887333 PMID:9892178 PMID:10023947 PMID:10330348 PMID:10397742 PMID:10416970 PMID:10425038 PMID:10464642 PMID:10534763 PMID:10706620 PMID:10738255 PMID:10817650 PMID:10864201 PMID:10873394 PMID:10980530 PMID:11054065 PMID:11298136 PMID:11382771 PMID:11443540 PMID:11468183 PMID:11505391 PMID:11606401 PMID:11746755 PMID:11756177 PMID:11756185 PMID:11805335 PMID:11826028 PMID:11830610 PMID:11839094 PMID:11849780 PMID:11857346 PMID:11897822 PMID:12072877 PMID:12091354 PMID:12149228 PMID:12195425 PMID:12400598 PMID:12473594 PMID:12497634 PMID:12511424 PMID:12552559 PMID:12552566 PMID:12646636 PMID:12655570 PMID:12673797 PMID:12673804 PMID:12697903 PMID:12745884 PMID:12810666 PMID:12815592 PMID:12882767 PMID:12883528 PMID:12917204 PMID:12935922 PMID:12969974 PMID:14576320 PMID:14586414 PMID:14627829 PMID:14643952 PMID:14654357 PMID:14695534 PMID:14706517 PMID:14754616 PMID:14970866 PMID:15039971 PMID:15101044 PMID:15159313 PMID:15174027 PMID:15196260 PMID:15279808 PMID:15390180 PMID:15450731 PMID:15696190 PMID:15756685 PMID:15843990 PMID:15880721 PMID:15928302 PMID:16014569 PMID:16140923 PMID:16167060 PMID:16189143 PMID:16199547 PMID:16238588 PMID:16266405 PMID:16380133 PMID:16387360 PMID:16411093 PMID:16461462 PMID:16603769 PMID:16622469 PMID:16631465 PMID:16652348 PMID:16832357 PMID:16864838 PMID:16914028 PMID:16941484 PMID:16953663 PMID:16958054 PMID:17001622 PMID:17124347 PMID:17132159 PMID:17166884 PMID:17298726 PMID:17333338 PMID:17344846 PMID:17376192 PMID:17389389 PMID:17393301 PMID:17517479 PMID:17540590 PMID:17576681 PMID:17600866 PMID:17623063 PMID:17640065 PMID:17910737 PMID:17968022 PMID:18066086 PMID:18321536 PMID:18384426 PMID:18414213 PMID:18431795 PMID:18497957 PMID:18504682 PMID:18560558 PMID:18573109 PMID:18575927 PMID:18634022 PMID:18807267 PMID:18813293 PMID:19018867 PMID:19147735 PMID:19347964 PMID:19404735 PMID:19431188 PMID:19440741 PMID:19535770 PMID:19605768 PMID:19691550 PMID:19763152 PMID:19779456 PMID:19781682 PMID:19823873 PMID:19931588 PMID:20077034 PMID:20153123 PMID:20232390 PMID:20301790 PMID:20305132 PMID:20307669 PMID:20346647 PMID:20480175 PMID:20840352 PMID:20945614 PMID:20966255 PMID:21150274 PMID:21346221 PMID:21354641 PMID:21445571 PMID:21459046 PMID:21665257 PMID:21665297 PMID:21778326 PMID:21787400 PMID:21792198 PMID:21833744 PMID:21933854 PMID:21965147 PMID:21993670 PMID:22006793 PMID:22017321 PMID:22071889 PMID:22146522 PMID:22213089 PMID:22234840 PMID:22250480 PMID:22345219 PMID:22369572 PMID:22406018 PMID:22420423 PMID:22529920 PMID:22585167 PMID:22585170 PMID:22649200 PMID:22674506 PMID:22869595 PMID:22895193 PMID:22927201 PMID:22952040 PMID:22995991 PMID:23091097 PMID:23142947 PMID:23143971 PMID:23211698 PMID:23264026 PMID:23322442 PMID:23454770 PMID:23532176 PMID:23555315 PMID:23585368 PMID:23585524 PMID:23632773 PMID:23640770 PMID:23667852 PMID:23671275 PMID:23761041 PMID:23774824 PMID:23807571 PMID:23836671 PMID:23946315 PMID:24033266 PMID:24088041 PMID:24090759 PMID:24172824 PMID:24326041 PMID:24356096 PMID:24405665 PMID:24416720 PMID:24448499 PMID:24506781 PMID:24549055 PMID:24556621 PMID:24628946 PMID:24643969 PMID:24667671 PMID:24728327 PMID:24733792 PMID:24763289 PMID:24789685 PMID:24825865 PMID:24853695 PMID:24920063 PMID:24951259 PMID:24970356 PMID:24983367 PMID:25032865 PMID:25037873 PMID:25040471 PMID:25042771 PMID:25058500 PMID:25077176 PMID:25117502 PMID:25122203 PMID:25133958 PMID:25148578 PMID:25151137 PMID:25182519 PMID:25186627 PMID:25232094 PMID:25318351 PMID:25320358 PMID:25326635 PMID:25326637 PMID:25330149 PMID:25374739 PMID:25428789 PMID:25452441 PMID:25460276 PMID:25479140 PMID:25480502 PMID:25502423 PMID:25503501 PMID:25523272 PMID:25525159 PMID:25572163 PMID:25587027 PMID:25589003 PMID:25614872 PMID:25625042 PMID:25640679 PMID:25741868 PMID:25793145 PMID:25877891 PMID:25914063 PMID:25925381 PMID:25925954 PMID:25938944 PMID:25957637 PMID:25980754 PMID:26009992 PMID:26010451 PMID:26022348 PMID:26053404 PMID:26094658 PMID:26098866 PMID:26182300 PMID:26193622 PMID:26206375 PMID:26220245 PMID:26238431 PMID:26246601 PMID:26247737 PMID:26270727 PMID:26296696 PMID:26296701 PMID:26344566 PMID:26380989 PMID:26466571 PMID:26467025 PMID:26483394 PMID:26506520 PMID:26530882 PMID:26534844 PMID:26556299 PMID:26580448 PMID:26628246 PMID:26630574 PMID:26633542 PMID:26633545 PMID:26662178 PMID:26677768 PMID:26681312 PMID:26689913 PMID:26692440 PMID:26693373 PMID:26786923 PMID:26787654 PMID:26822949 PMID:26824983 PMID:26837699 PMID:26845104 PMID:26896183 PMID:26898890 PMID:26901136 PMID:26915675 PMID:26917275 PMID:26976419 PMID:27067391 PMID:27083775 PMID:27097373 PMID:27121310 PMID:27153395 PMID:27159176 PMID:27175599 PMID:27200287 PMID:27304073 PMID:27433846 PMID:27443514 PMID:27449771 PMID:27479817 PMID:27498913 PMID:27528516 PMID:27581129 PMID:27595995 PMID:27602502 PMID:27616075 PMID:27621404 PMID:27664052 PMID:27720647 PMID:27732944 PMID:27798748 PMID:27873105 PMID:27878467 PMID:27884168 PMID:27913932 PMID:27932211 PMID:27959900 PMID:27978560 PMID:27988859 PMID:27989354 PMID:28007021 PMID:28008555 PMID:28051113 PMID:28076423 PMID:28093192 PMID:28093616 PMID:28120234 PMID:28125075 PMID:28126470 PMID:28135145 PMID:28139868 PMID:28152038 PMID:28170084 PMID:28188106 PMID:28195393 PMID:28259476 PMID:28338653 PMID:28423363 PMID:28486781 PMID:28492532 PMID:28503720 PMID:28508083 PMID:28580595 PMID:28591191 PMID:28608266 PMID:28652578 PMID:28687356 PMID:28716242 PMID:28717660 PMID:28724667 PMID:28726808 PMID:28767289 PMID:28779002 PMID:28825054 PMID:28828701 PMID:28843361 PMID:28873162 PMID:28875981 PMID:28898322 PMID:28975465 PMID:29036293 PMID:29058119 PMID:29141312 PMID:29163336 PMID:29263802 PMID:29335925 PMID:29356034 PMID:29360161 PMID:29368341 PMID:29371908 PMID:29415044 PMID:29470806 PMID:29478780 PMID:29482223 PMID:29506128 PMID:29522266 PMID:29555025 PMID:29555771 PMID:29596542 PMID:29600275 PMID:29625052 PMID:29641532 PMID:29659569 PMID:29664460 PMID:29665859 PMID:29667044 PMID:29678143 PMID:29684080 PMID:29719442 PMID:29752822 PMID:29753700 PMID:29785153 PMID:29888287 PMID:29905759 PMID:29906526 PMID:29909963 PMID:29915322 PMID:29915382 PMID:29922827 PMID:29945567 PMID:29946849 PMID:29954938 PMID:29958926 PMID:29961768 PMID:30067863 PMID:30086788 PMID:30093976 PMID:30128536 PMID:30154229 PMID:30192042 PMID:30197789 PMID:30214756 PMID:30253992 PMID:30256826 PMID:30267214 PMID:30287823 PMID:30303537 PMID:30306255 PMID:30311369 PMID:30322717 PMID:30338439 PMID:30339652 PMID:30363071 PMID:30374176 PMID:30385609 PMID:30413523 PMID:30426508 PMID:30441849 PMID:30447919 PMID:30482293 PMID:30504431 PMID:30549301 PMID:30579816 PMID:30607632 PMID:30612635 PMID:30613976 PMID:30620386 PMID:30651582 PMID:30697212 PMID:30723761 PMID:30730459 PMID:30772474 PMID:30814645 PMID:30819809 PMID:30851086 PMID:30883245 PMID:30888062 PMID:30927251 PMID:30982232 PMID:31050087 PMID:31054420 PMID:31056428 PMID:31097817 PMID:31101757 PMID:31118792 PMID:31125277 PMID:31130284 PMID:31139954 PMID:31159747 PMID:31160347 PMID:31173646 PMID:31206626 PMID:31214250 PMID:31214711 PMID:31216378 PMID:31248605 PMID:31263571 PMID:31273614 PMID:31275557 PMID:31285527 PMID:31319225 PMID:31325073 PMID:31341520 PMID:31352369 PMID:31403082 PMID:31407689 PMID:31429931 PMID:31447099 PMID:31465090 PMID:31611883 PMID:31617914 PMID:31691010 PMID:31731261 PMID:31740029 PMID:31741144 PMID:31742824 PMID:31754145 PMID:31780696 PMID:31784493 PMID:31815095 PMID:31843900 PMID:31871109 PMID:31882575 PMID:31911633 PMID:31919090 PMID:31920950 PMID:31921190 PMID:31921681 PMID:31948886 PMID:31966388 PMID:31970404 PMID:32002120 PMID:32008151 PMID:32039725 PMID:32068069 PMID:32091409 PMID:32107087 PMID:32125938 PMID:32133419 PMID:32183364 PMID:32255556 PMID:32295079 PMID:32338768 PMID:32365829 PMID:32427313 PMID:32471518 PMID:32488064 PMID:32522261 PMID:32566746 PMID:32601921 PMID:32606146 PMID:32658311 PMID:32676327 PMID:32694154 PMID:32748564 PMID:32754152 PMID:32756499 PMID:32772458 PMID:32782288 PMID:32810930 PMID:32832836 PMID:32853339 PMID:32854451 PMID:32860008 PMID:32885271 PMID:32906206 PMID:32918381 PMID:32936981 PMID:32957588 PMID:32963463 PMID:32980694 PMID:32986223 PMID:32994724 PMID:32999401 PMID:33011440 PMID:33054084 PMID:33095795 PMID:33098801 PMID:33128190 PMID:33134171 PMID:33163394 PMID:33280026 PMID:33309985 PMID:33332384 PMID:33376610 PMID:33421217 PMID:33436325 PMID:33442023 PMID:33471991 PMID:33509806 PMID:33552952 PMID:33558524 PMID:33606809 PMID:33608381 PMID:33630411 PMID:33646313 PMID:33747920 PMID:33750258 PMID:33850299 PMID:33919281 PMID:34067464 PMID:34130653 PMID:34204722 PMID:34250417 PMID:34262154 PMID:34270679 PMID:34299313 PMID:34359559 PMID:34371384 PMID:34570441 PMID:34573280 PMID:34600502 PMID:34606182 PMID:34646395 PMID:34653963 PMID:34663476 PMID:34761457 PMID:34771661 PMID:34873480 PMID:35039564 PMID:35186721 PMID:35201558 PMID:35245693 PMID:35260754 PMID:35264596 PMID:35309086 PMID:35365198 PMID:35402282 PMID:35806449 PMID:35892882 PMID:35893033 PMID:36988593 More...
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NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
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G |
Casp1 |
caspase 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:2,599,017...2,635,097
Ensembl chr 8:2,598,876...2,635,092
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G |
Ccdc82 |
coiled-coil domain containing 82 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:10,227,727...10,265,963
Ensembl chr 8:10,228,430...10,265,963
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G |
Cep126 |
centrosomal protein 126 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:5,200,576...5,267,740
Ensembl chr 8:5,218,509...5,267,467
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G |
Cep57 |
centrosomal protein 57 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:10,669,588...10,689,257
Ensembl chr 8:10,669,590...10,689,249
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G |
Cfap300 |
cilia and flagella associated protein 300 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:5,180,180...5,198,840
Ensembl chr 8:5,180,675...5,198,807
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G |
Cfap68 |
cilia and flagella associated protein 68 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,107,663...51,113,192
Ensembl chr 8:51,107,721...51,113,420
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G |
Cntn5 |
contactin 5 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:6,735,715...7,967,727
Ensembl chr 8:6,738,239...7,967,957
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G |
Cryab |
crystallin, alpha B |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:54,012,963...54,066,751
Ensembl chr 8:54,016,006...54,066,666
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G |
Cwc15 |
CWC15 spliceosome-associated protein |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:11,305,401...11,316,326
Ensembl chr 8:11,305,424...11,316,325
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G |
Cwf19l2 |
CWF19 like cell cycle control factor 2 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 6:290,148...356,636
Ensembl chr 6:281,685...356,604
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G |
Dcun1d5 |
defective in cullin neddylation 1 domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,412,266...4,433,380
Ensembl chr 8:4,412,221...4,433,367
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G |
Ddi1 |
DNA-damage inducible 1 homolog 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:3,596,658...3,598,505
Ensembl chr 8:3,595,149...3,598,533
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G |
Ddx10 |
DEAD-box helicase 10 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:53,488,656...53,643,373
Ensembl chr 8:53,488,656...53,643,373
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G |
Dixdc1 |
DIX domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479
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G |
Dnmt1 |
DNA methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia |
ClinVar |
PMID:27884168 PMID:28492532 |
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NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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G |
Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,189,257...4,412,183
Ensembl chr 8:4,189,257...4,412,183
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G |
Elmod1 |
ELMO domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:54,298,363...54,355,348
Ensembl chr 8:54,298,363...54,355,140
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G |
Endod1 |
endonuclease domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:11,209,123...11,238,680
Ensembl chr 8:11,211,110...11,238,892
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G |
Exph5 |
exophilin 5 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:53,698,825...53,775,371
Ensembl chr 8:53,698,852...53,773,169
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G |
Fam76b |
family with sequence similarity 76, member B |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:10,689,396...10,711,847
Ensembl chr 8:10,688,963...10,711,861
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G |
Fdx1 |
ferredoxin 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:52,268,536...52,287,344
Ensembl chr 8:52,268,536...52,287,414
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G |
Fdxacb1 |
ferredoxin-fold anticodon binding domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,111,831...51,118,253
Ensembl chr 8:51,113,397...51,118,308
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G |
Fut4 |
fucosyltransferase 4 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:11,586,721...11,590,682
Ensembl chr 8:11,586,721...11,590,682
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G |
Gria4 |
glutamate ionotropic receptor AMPA type subunit 4 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:1,562,118...2,035,035
Ensembl chr 8:1,562,119...2,034,979
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G |
Gucy1a2 |
guanylate cyclase 1 soluble subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:500,212...900,201
Ensembl chr 8:500,212...889,203
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G |
Hdac4 |
histone deacetylase 4 |
treatment |
ISO |
protein:altered localization:nucleus: |
RGD |
PMID:22466704 PMID:22466704 PMID:22466704 |
RGD:9681455, RGD:9681455, RGD:9681455 |
NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
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G |
Hoatz |
HOATZ cilia and flagella associated protein |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,385,931...51,409,796
Ensembl chr 8:51,388,382...51,412,514
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G |
Hspb2 |
heat shock protein family B (small) member 2 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,093,267...51,094,864
Ensembl chr 8:51,081,342...51,094,533
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G |
Ifng |
interferon gamma |
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ISO |
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RGD |
PMID:6432389 |
RGD:8693328 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Il2 |
interleukin 2 |
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ISO |
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RGD |
PMID:6432389 |
RGD:8693328 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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G |
Il6 |
interleukin 6 |
severity |
ISO |
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RGD |
PMID:26851119 |
RGD:11529801 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Jrkl |
JRK-like |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:10,224,172...10,227,068
Ensembl chr 8:10,224,172...10,227,068
|
|
G |
Kbtbd3 |
kelch repeat and BTB domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:1,464,162...1,491,144
Ensembl chr 8:1,473,247...1,487,943
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G |
Kdm4d |
lysine demethylase 4D |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:11,279,756...11,304,920
Ensembl chr 8:11,268,859...11,305,290
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G |
Layn |
layilin |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:51,363,928...51,384,748
Ensembl chr 8:51,367,091...51,384,330
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|
G |
LOC100125362 |
hypothetical protein LOC100125362 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:53,062,361...53,069,882
Ensembl chr 8:53,062,360...53,069,538
|
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G |
Maml2 |
mastermind-like transcriptional coactivator 2 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:10,268,611...10,588,307
Ensembl chr 8:10,268,665...10,587,107
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G |
Mir34b |
microRNA 34b |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:51,410,244...51,410,327
Ensembl chr 8:51,410,244...51,410,327
|
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G |
Mir34c |
microRNA 34c |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,409,726...51,409,802
Ensembl chr 8:51,409,726...51,409,802
|
|
G |
Mmp1 |
matrix metallopeptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
|
|
G |
Mmp10 |
matrix metallopeptidase 10 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,689,840...4,697,748
Ensembl chr 8:4,689,840...4,697,748
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G |
Mmp12 |
matrix metallopeptidase 12 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611
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G |
Mmp13 |
matrix metallopeptidase 13 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
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G |
Mmp20 |
matrix metallopeptidase 20 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:4,789,415...4,830,035
Ensembl chr 8:4,789,415...4,830,035
|
|
G |
Mmp27 |
matrix metallopeptidase 27 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:4,745,887...4,755,806
Ensembl chr 8:4,745,883...4,755,806
|
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G |
Mmp3 |
matrix metallopeptidase 3 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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G |
Mmp7 |
matrix metallopeptidase 7 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902
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G |
Mmp8 |
matrix metallopeptidase 8 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:4,724,009...4,732,956
Ensembl chr 8:4,724,029...4,733,520
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|
G |
Mre11 |
MRE11 homolog, double strand break repair nuclease |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:11,618,876...11,680,451
Ensembl chr 8:11,632,354...11,678,279
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G |
Msantd4 |
Myb/SANT DNA binding domain containing 4 with coiled-coils |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:1,516,979...1,527,587
Ensembl chr 8:1,516,979...1,527,587
|
|
G |
Mtmr2 |
myotubularin related protein 2 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:10,617,993...10,670,724
Ensembl chr 8:10,617,993...10,668,172
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G |
Nkapd1 |
NKAP domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:50,955,650...50,966,915
Ensembl chr 8:50,955,654...50,966,830
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|
G |
Npat |
nuclear protein, co-activator of histone transcription |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 PMID:31671381 |
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NCBI chr 8:53,932,993...53,970,875
Ensembl chr 8:53,932,993...53,970,875
|
|
G |
Pdgfd |
platelet derived growth factor D |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:3,488,448...3,722,395
Ensembl chr 8:3,488,423...3,722,395
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G |
Pgr |
progesterone receptor |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:6,073,216...6,131,552
Ensembl chr 8:6,072,673...6,131,344
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G |
Pih1d2 |
PIH1 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:50,966,885...50,976,901
Ensembl chr 8:50,966,885...50,975,656
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|
G |
Piwil4 |
piwi-like RNA-mediated gene silencing 4 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:11,536,520...11,579,883
Ensembl chr 8:11,536,520...11,579,761
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|
G |
Poglut3 |
protein O-glucosyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:53,777,614...53,795,404
Ensembl chr 8:53,777,785...53,795,399
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G |
Pou2af1 |
POU class 2 homeobox associating factor 1 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:51,521,813...51,548,819
Ensembl chr 8:51,474,015...51,548,819
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|
G |
Pou2af2 |
POU class 2 homeobox associating factor 2 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:51,607,780...51,648,790
Ensembl chr 8:51,607,763...51,648,628
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|
G |
Pou2af3 |
POU class 2 homeobox associating factor 3 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:51,588,237...51,597,114
Ensembl chr 8:51,588,237...51,603,855
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G |
Ppp2r1b |
protein phosphatase 2 scaffold subunit A beta |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:51,195,860...51,228,442
Ensembl chr 8:51,186,717...51,228,485
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|
G |
Rab39a |
RAB39A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:54,088,744...54,105,756
Ensembl chr 8:54,088,129...54,106,483
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G |
Rdx |
radixin |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:52,379,494...52,437,673
Ensembl chr 8:52,379,494...52,437,678
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G |
Sdhd |
succinate dehydrogenase complex subunit D |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:50,944,717...50,954,298
Ensembl chr 8:50,944,704...50,954,238
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G |
Sesn3 |
sestrin 3 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:11,133,822...11,189,436
Ensembl chr 8:11,133,678...11,185,842
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G |
Sik2 |
salt-inducible kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:51,225,543...51,325,343
Ensembl chr 8:51,225,543...51,325,415
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G |
Slc35f2 |
solute carrier family 35, member F2 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:54,159,970...54,203,614
Ensembl chr 8:54,159,970...54,203,612
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G |
Sln |
sarcolipin |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:54,221,389...54,248,110
Ensembl chr 8:54,243,542...54,247,791
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G |
Timm8b |
translocase of inner mitochondrial membrane 8 homolog B |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:50,954,350...50,955,730
Ensembl chr 8:50,954,342...50,955,729
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G |
Tmem123 |
transmembrane protein 123 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:4,922,098...4,952,228
Ensembl chr 8:4,922,098...4,952,224
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G |
Trpc6 |
transient receptor potential cation channel, subfamily C, member 6 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
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G |
Yap1 |
Yes1 associated transcriptional regulator |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010
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G |
Zc3h12c |
zinc finger CCCH type containing 12C |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:52,443,791...52,508,643
Ensembl chr 8:52,448,320...52,504,315
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G |
Mre11 |
MRE11 homolog, double strand break repair nuclease |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder |
CTD ClinVar |
PMID:2433832 PMID:8445618 PMID:8684395 PMID:9536098 PMID:9845372 PMID:10612394 PMID:11196167 PMID:11238951 PMID:11371508 PMID:12966088 PMID:14684699 PMID:14690604 PMID:15269180 PMID:16199547 PMID:16858402 PMID:17576681 PMID:18854157 PMID:19383352 PMID:19732584 PMID:19763152 PMID:20052722 PMID:20307669 PMID:20805886 PMID:21227757 PMID:21252998 PMID:22006311 PMID:22078559 PMID:22139912 PMID:22406018 PMID:22705791 PMID:22863007 PMID:23028188 PMID:23080121 PMID:23436002 PMID:23718828 PMID:23755103 PMID:23912341 PMID:24030952 PMID:24033266 PMID:24093751 PMID:24332946 PMID:24549055 PMID:24556621 PMID:24733832 PMID:24763289 PMID:24894818 PMID:25040471 PMID:25133958 PMID:25326635 PMID:25326637 PMID:25452441 PMID:25503501 PMID:25640679 PMID:25741868 PMID:26057807 PMID:26122175 PMID:26467025 PMID:26483394 PMID:26534844 PMID:26556299 PMID:26580448 PMID:26633542 PMID:26680607 PMID:26757417 PMID:26786923 PMID:26787654 PMID:26845104 PMID:26878173 PMID:26898890 PMID:27153395 PMID:27329137 PMID:27433846 PMID:27621404 PMID:27783279 PMID:27878467 PMID:28008555 PMID:28051113 PMID:28125075 PMID:28152038 PMID:28202063 PMID:28486781 PMID:28492532 PMID:28524162 PMID:28559769 PMID:28699156 PMID:28715532 PMID:28849312 PMID:28873162 PMID:28888541 PMID:29170652 PMID:29348823 PMID:29371908 PMID:29478780 PMID:29752822 PMID:29922827 PMID:30093976 PMID:30306255 PMID:30441849 PMID:30613976 PMID:30924587 PMID:31033087 PMID:31159747 PMID:31273614 PMID:31360874 PMID:31780696 PMID:31887429 PMID:32039725 PMID:32427313 PMID:32449991 PMID:32521533 PMID:32566746 PMID:32658311 PMID:32832836 PMID:32959997 PMID:33098801 PMID:33426167 PMID:33471991 PMID:33479248 PMID:33510186 PMID:33956305 PMID:35089076 PMID:36091175 More...
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NCBI chr 8:11,618,876...11,680,451
Ensembl chr 8:11,632,354...11,678,279
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G |
Pcna |
proliferating cell nuclear antigen |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
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NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
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G |
Pik3r5 |
phosphoinositide-3-kinase, regulatory subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Ataxia with oculomotor apraxia type 3 |
OMIM ClinVar |
PMID:22065524 PMID:25741868 PMID:28492532 PMID:33116287 |
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NCBI chr10:53,132,585...53,200,663
Ensembl chr10:53,132,603...53,199,374
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G |
Pnkp |
polynucleotide kinase 3'-phosphatase |
|
ISO |
ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4 |
OMIM ClinVar |
PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:17576681 PMID:18005052 PMID:18266750 PMID:18678442 PMID:18845387 PMID:20118933 PMID:21307862 PMID:21560189 PMID:22508754 PMID:23224214 PMID:24033266 PMID:24938145 PMID:25558065 PMID:25728773 PMID:25741868 PMID:26467025 PMID:27066567 PMID:27125728 PMID:27890643 PMID:28492532 PMID:29261713 PMID:29652299 PMID:29655203 PMID:29720203 PMID:30039206 PMID:31061747 PMID:31436889 PMID:31707899 PMID:32010037 PMID:32347949 PMID:33654647 More...
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NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920
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G |
Atm |
ATM serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Ataxia - telangiectasia variant |
ClinVar |
PMID:8755918 PMID:8808599 PMID:9000145 PMID:9288106 PMID:9463314 PMID:9536098 PMID:9792410 PMID:9887333 PMID:10330348 PMID:11382771 PMID:11826028 PMID:11830610 PMID:14654357 PMID:15054841 PMID:15174027 PMID:16958054 PMID:17001622 PMID:17576681 PMID:18575927 PMID:18634022 PMID:19431188 PMID:19535770 PMID:19781682 PMID:19823873 PMID:20301790 PMID:21787400 PMID:21792198 PMID:22345219 PMID:22529920 PMID:22585167 PMID:23143971 PMID:24088041 PMID:24733792 PMID:25037873 PMID:25040471 PMID:25077176 PMID:25186627 PMID:25741868 PMID:25914063 PMID:25980754 PMID:26506520 PMID:26633545 PMID:26662178 PMID:26681312 PMID:27528516 PMID:27595995 PMID:27798748 PMID:27884168 PMID:27978560 PMID:27988859 PMID:28008555 PMID:28492532 PMID:28779002 PMID:29719442 PMID:29915382 PMID:30504431 PMID:30549301 PMID:33509806 More...
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NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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G |
C8h11orf65 |
similar to human chromosome 11 open reading frame 65 |
|
ISO |
ClinVar Annotator: match by term: Ataxia - telangiectasia variant |
ClinVar |
PMID:8755918 PMID:8808599 PMID:9000145 PMID:9288106 PMID:9463314 PMID:9792410 PMID:9887333 PMID:10330348 PMID:11382771 PMID:11826028 PMID:11830610 PMID:14654357 PMID:15174027 PMID:16958054 PMID:17001622 PMID:18575927 PMID:18634022 PMID:19431188 PMID:19781682 PMID:19823873 PMID:20301790 PMID:21787400 PMID:21792198 PMID:22345219 PMID:22529920 PMID:22585167 PMID:23143971 PMID:24088041 PMID:24733792 PMID:25037873 PMID:25040471 PMID:25077176 PMID:25186627 PMID:25741868 PMID:25914063 PMID:25980754 PMID:26506520 PMID:26633545 PMID:26662178 PMID:26681312 PMID:27528516 PMID:27595995 PMID:27798748 PMID:27884168 PMID:27978560 PMID:27988859 PMID:28008555 PMID:28492532 PMID:28779002 PMID:29719442 PMID:29915382 PMID:30504431 PMID:30549301 PMID:33509806 More...
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NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
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G |
Mre11 |
MRE11 homolog, double strand break repair nuclease |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 1 |
OMIM ClinVar |
PMID:2433832 PMID:8445618 PMID:8684395 PMID:9845372 PMID:10612394 PMID:11196167 PMID:11238951 PMID:11371508 PMID:12966088 PMID:14684699 PMID:14690604 PMID:15269180 PMID:15574463 PMID:16199547 PMID:16858402 PMID:18652530 PMID:18854157 PMID:19383352 PMID:19732584 PMID:20052722 PMID:20805886 PMID:21227757 PMID:21252998 PMID:21324166 PMID:22006311 PMID:22078559 PMID:22139912 PMID:22705791 PMID:22863007 PMID:23080121 PMID:23436002 PMID:23718828 PMID:23755103 PMID:23912341 PMID:24030952 PMID:24033266 PMID:24332946 PMID:24549055 PMID:24733832 PMID:24763289 PMID:24894818 PMID:25040471 PMID:25326635 PMID:25452441 PMID:25503501 PMID:25640679 PMID:25741868 PMID:26057807 PMID:26122175 PMID:26467025 PMID:26483394 PMID:26534844 PMID:26556299 PMID:26580448 PMID:26633542 PMID:26680607 PMID:26786923 PMID:26787654 PMID:26845104 PMID:26878173 PMID:26898890 PMID:27124789 PMID:27153395 PMID:27329137 PMID:27621404 PMID:27783279 PMID:27878467 PMID:28008555 PMID:28051113 PMID:28125075 PMID:28152038 PMID:28202063 PMID:28486781 PMID:28492532 PMID:28559769 PMID:28715532 PMID:28849312 PMID:28873162 PMID:28888541 PMID:29170652 PMID:29348823 PMID:29478780 PMID:29752822 PMID:29922827 PMID:30306255 PMID:30441849 PMID:30613976 PMID:31033087 PMID:31159747 PMID:31780696 PMID:32039725 PMID:32427313 PMID:32449991 PMID:32521533 PMID:32566746 PMID:32658311 PMID:32832836 PMID:33098801 PMID:33426167 PMID:33471991 PMID:33479248 PMID:33956305 More...
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NCBI chr 8:11,618,876...11,680,451
Ensembl chr 8:11,632,354...11,678,279
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Pcna |
proliferating cell nuclear antigen |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 2 |
OMIM ClinVar |
PMID:24911150 PMID:25741868 |
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NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
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Actl9 |
actin-like 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23042114 |
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NCBI chr 7:14,234,504...14,235,881
Ensembl chr 7:14,234,504...14,235,881
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Adam17 |
ADAM metallopeptidase domain 17 |
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ISS |
OMIM:603165 |
MouseDO |
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NCBI chr 6:40,872,936...40,920,700
Ensembl chr 6:40,872,856...40,920,639
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Ahr |
aryl hydrocarbon receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27869817 |
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NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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Apoe |
apolipoprotein E |
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ISO |
protein:decreased expression:plasma |
RGD |
PMID:19116453 |
RGD:11040546 |
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Artn |
artemin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27869817 |
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NCBI chr 5:131,458,596...131,470,193
Ensembl chr 5:131,464,756...131,468,025
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Bdnf |
brain-derived neurotrophic factor |
susceptibility no_association |
ISO |
DNA:polymorphism::C270T(human) protein:increased expression:serum: DNA:polymorphism:cds:p.V66M(human) mRNA:decreased expression:mast cell |
RGD |
PMID:19522715 PMID:17073871 PMID:19038326 PMID:17845420 |
RGD:8657028, RGD:8657069, RGD:8657067, RGD:8657065 |
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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C3 |
complement C3 |
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ISO |
protein:increased expression:plasma |
RGD |
PMID:3923750 |
RGD:7401273 |
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Card11 |
caspase recruitment domain family, member 11 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23042114 PMID:28628108 |
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NCBI chr12:13,620,979...13,758,115
Ensembl chr12:13,621,087...13,758,112
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Casp8 |
caspase 8 |
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ISS |
OMIM:603165 |
MouseDO |
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NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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Ccdc80 |
coiled-coil domain containing 80 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23042114 |
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NCBI chr11:55,685,165...55,718,827
Ensembl chr11:55,685,872...55,719,137
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Ccl11 |
C-C motif chemokine ligand 11 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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Ccl17 |
C-C motif chemokine ligand 17 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr19:10,202,317...10,203,768
Ensembl chr19:10,202,128...10,203,819
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Ccl20 |
C-C motif chemokine ligand 20 |
severity treatment |
ISO |
protein:increased expression:plasma |
RGD |
PMID:11133838 PMID:19162238 |
RGD:7483580, RGD:7483583 |
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
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Ccl22 |
C-C motif chemokine ligand 22 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 PMID:22125604 |
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NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
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Ccl24 |
C-C motif chemokine ligand 24 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr12:21,100,835...21,104,832
Ensembl chr12:21,100,835...21,104,893
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Ccl26 |
C-C motif chemokine ligand 26 |
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ISO |
protein:increased expression:serum (human) |
RGD |
PMID:14616792 |
RGD:11087554 |
NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335
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Ccl27 |
C-C motif chemokine ligand 27 |
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ISO |
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RGD |
PMID:12642842 |
RGD:1626250 |
NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506
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Ccl28 |
C-C motif chemokine ligand 28 |
severity |
ISO |
associated with Asthma; protein: increased secretion:serum (human) |
RGD |
PMID:20161852 |
RGD:4892193 |
NCBI chr 2:51,601,354...51,625,999
Ensembl chr 2:51,601,331...51,625,997
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Ccl5 |
C-C motif chemokine ligand 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
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Ccr2 |
C-C motif chemokine receptor 2 |
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ISO |
protein:increased expression:skin,monocyte: |
RGD |
PMID:15370700 |
RGD:8661734 |
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Ccr3 |
C-C motif chemokine receptor 3 |
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ISO |
protein:increased expression:skin CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18249437 PMID:16449815 |
RGD:6893391 |
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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Ccr5 |
C-C motif chemokine receptor 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18249437 PMID:16449815 |
RGD:6893391 |
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd40 |
CD40 molecule |
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ISO |
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RGD |
PMID:18693155 |
RGD:5132274 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cdsn |
corneodesmosin |
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ISO |
protein:decreased expression:skin of body (human) |
RGD |
PMID:21211653 |
RGD:42721970 |
NCBI chr20:3,179,432...3,185,854
Ensembl chr20:3,179,438...3,184,250
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Cldn1 |
claudin 1 |
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ISO |
mRNA,protein:decreased expression:epidermis; DNA:SNPs:intron,promoter :rs17501010,rs9290927,rs893051,rs9290929,rs16865373(human) |
RGD |
PMID:21163515 |
RGD:11344875 |
NCBI chr11:74,421,569...74,436,728
Ensembl chr11:74,421,569...74,436,724
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Cldn23 |
claudin 23 |
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ISO |
mRNA:decreased expression:epidermis: |
RGD |
PMID:21163515 |
RGD:11344875 |
NCBI chr16:56,413,677...56,415,401
Ensembl chr16:56,413,381...56,415,523
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Cma1 |
chymase 1 |
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ISO |
DNA:polymorphism:5' utr:g.-1903G>A rs1800875 (human) |
RGD |
PMID:16134991 |
RGD:1625394 |
NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233
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Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
susceptibility |
ISO |
DNA:SNP,haplotype:exon,3'UTR:rs3087243,rs231775 (human) mRNA:increased expression:blood: |
RGD |
PMID:16445777 PMID:22357516 |
RGD:7411698, RGD:7411700 |
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Ctse |
cathepsin E |
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ISS |
OMIM:603165 |
MouseDO |
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NCBI chr13:43,091,954...43,114,509
Ensembl chr13:43,092,128...43,114,502
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Cx3cl1 |
C-X3-C motif chemokine ligand 1 |
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ISO |
protein:increased expression:serum |
RGD |
PMID:15131578 |
RGD:9491761 |
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
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Cx3cr1 |
C-X3-C motif chemokine receptor 1 |
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ISO |
protein:decreased expression:blood, leukocyte |
RGD |
PMID:24821910 PMID:15131578 |
RGD:9491393, RGD:9491761 |
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
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Cxcl10 |
C-X-C motif chemokine ligand 10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Cxcr3 |
C-X-C motif chemokine receptor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27869817 |
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NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Cyp4f39 |
cytochrome P450, family 4, subfamily f, polypeptide 39 |
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ISO |
ClinVar Annotator: match by term: Atopic eczema |
ClinVar |
PMID:25741868 |
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NCBI chr 7:11,426,806...11,505,553
Ensembl chr 7:11,433,371...11,536,181
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Dock8 |
dedicator of cytokinesis 8 |
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ISO |
DNA:mutations:cds: |
RGD |
PMID:22476911 |
RGD:40903056 |
NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
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Emsy |
EMSY transcriptional repressor, BRCA2 interacting |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23042114 |
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NCBI chr 1:152,881,485...152,960,420
Ensembl chr 1:152,883,992...152,953,528
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F2 |
coagulation factor II |
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ISO |
protein:increased expression:plasma |
RGD |
PMID:21488867 |
RGD:5147756 |
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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Fcgr2a |
Fc gamma receptor 2A |
severity |
ISO |
protein:increased expression:eosinophil |
RGD |
PMID:7564170 PMID:19414806 |
RGD:5147985, RGD:5508430 |
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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Flg |
filaggrin |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Atopic eczema |
CTD ClinVar |
PMID:16444271 PMID:16550169 PMID:16815158 PMID:17030239 PMID:18325573 PMID:19349982 PMID:19501237 PMID:19839980 PMID:19874431 PMID:21514438 PMID:22403702 PMID:23042114 PMID:23348739 PMID:23947670 PMID:24033266 PMID:24061166 PMID:24920311 PMID:25741868 PMID:27279822 PMID:27363669 PMID:31637781 More...
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NCBI chr 2:178,888,688...178,912,731
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Glb1 |
galactosidase, beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23042114 |
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NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
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Gstm1 |
glutathione S-transferase mu 1 |
susceptibility |
ISO |
DNA:deletion: : |
RGD |
PMID:21176116 PMID:20674822 |
RGD:5490539, RGD:5490981 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstp1 |
glutathione S-transferase pi 1 |
susceptibility |
ISO |
DNA:polymorphism:exon:p.I105V (rs1695) (human) |
RGD |
PMID:19842992 PMID:20674822 |
RGD:5490540, RGD:5490981 |
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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Gstt1 |
glutathione S-transferase theta 1 |
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ISO |
DNA:deletion, haplotype: : |
RGD |
PMID:19842992 |
RGD:5490540 |
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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Havcr1 |
hepatitis A virus cellular receptor 1 |
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ISO |
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RGD |
PMID:16159638 |
RGD:5128852 |
NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
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Hnmt |
histamine N-methyltransferase |
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ISO |
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RGD |
PMID:19025430 |
RGD:5128889 |
NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012
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Ifng |
interferon gamma |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18249437 PMID:33274957 PMID:22101570 |
RGD:8157618 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Ifnl3 |
interferon, lambda 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22295096 |
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NCBI chr 1:83,814,456...83,816,096
Ensembl chr 1:83,814,564...83,816,096
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Il10 |
interleukin 10 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18249437 PMID:23843958 |
RGD:7364805 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il13 |
interleukin 13 |
severity treatment |
ISO |
DNA:SNPs: :rs3091307, rs20541 (human) CTD Direct Evidence: marker/mechanism DNA:SNP:exon:4257G>A (human) DNA, protein:SNP, increased expression:promoter, serum:-1112C>T (human) |
CTD RGD |
PMID:18249437 PMID:22355542 PMID:21913997 PMID:16672002 PMID:17313488 PMID:19006098 PMID:10887320 PMID:23317483 More...
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RGD:5684364, RGD:8549583, RGD:8549539, RGD:8549531, RGD:8549529, RGD:8549509 |
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il13ra1 |
interleukin 13 receptor subunit alpha 1 |
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ISO |
mRNA:increased expression:skin |
RGD |
PMID:14527737 |
RGD:8549525 |
NCBI chr X:115,348,860...115,408,682
Ensembl chr X:115,348,860...115,408,681
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Il13ra2 |
interleukin 13 receptor subunit alpha 2 |
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ISO |
protein:increased expression:serum |
RGD |
PMID:21462799 PMID:20971924 |
RGD:8549521, RGD:8549556 |
NCBI chr X:111,002,590...111,074,053
Ensembl chr X:111,002,592...111,072,381
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Il17a |
interleukin 17A |
treatment severity |
ISO |
protein:increased expression:dermis, lymphocyte (human) protein:increased expression:epidermis (mouse) |
RGD |
PMID:24337738 PMID:18432274 PMID:22848348 |
RGD:8698670, RGD:9068436, RGD:9068417 |
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il18 |
interleukin 18 |
severity no_association |
ISO ISS |
protein:increased expression:serum OMIM:603165 DNA:SNP:promoter:-140C>G (rs360721) (human) DNA:SNP:promoter:-137G>C (rs187238) (human) DNA:SNPs, haplotype: :rs795467, rs4937113, rs5744247 (human) |
MouseDO RGD |
PMID:15317323 PMID:22840759 PMID:22840759 PMID:11490156 PMID:17517100 |
RGD:8655872, RGD:8655914, RGD:8655914, RGD:8655908, RGD:8655876 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il1b |
interleukin 1 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il2 |
interleukin 2 |
susceptibility |
ISO |
associated with food hypersensitivity; protein:increased expression:CD8+ T cell: DNA:SNP:promoter:rs2069762(human) |
RGD |
PMID:7547077 PMID:1673687 PMID:16672002 PMID:16333313 PMID:21982597 |
RGD:8662961, RGD:8693325, RGD:8549583, RGD:8663473, RGD:8663444 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il21r |
interleukin 21 receptor |
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ISO |
protein:increased expression:skin |
RGD |
PMID:19075398 PMID:19075398 |
RGD:6892938, RGD:6892938 |
NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
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Il23a |
interleukin 23 subunit alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33274957 |
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NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
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Il25 |
interleukin 25 |
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ISO |
protein:increased expression:arm skin |
RGD |
PMID:23657503 |
RGD:39128244 |
NCBI chr15:28,408,842...28,411,676
Ensembl chr15:28,408,842...28,411,893
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Il31 |
interleukin 31 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr12:33,095,108...33,105,026
Ensembl chr12:33,092,097...33,105,037
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Il33 |
interleukin 33 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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Il4 |
interleukin 4 |
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ISO |
DNA:SNP:promoter:-590C>T (human) CTD Direct Evidence: marker/mechanism protein:increased expression:serum |
CTD RGD |
PMID:11886533 PMID:12230500 PMID:18249437 PMID:9643293 PMID:8363440 |
RGD:7829786, RGD:7829795 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il4r |
interleukin 4 receptor |
susceptibility |
ISO |
DNA:mutation:cds:p.Q576R(human) |
RGD |
PMID:9392697 |
RGD:11530001 |
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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Il5 |
interleukin 5 |
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ISO |
mRNA: increased expression: skin CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11886533 PMID:18249437 PMID:33274957 PMID:22299064 |
RGD:5687175 |
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
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G |
Il6 |
interleukin 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18249437 |
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NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Kcnj11 |
potassium inwardly-rectifying channel, subfamily J, member 11 |
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ISO |
ClinVar Annotator: match by term: Atopic eczema |
ClinVar |
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NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
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G |
Mapk8 |
mitogen-activated protein kinase 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24046278 |
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NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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G |
Mbl2 |
mannose binding lectin 2 |
susceptibility |
ISO |
DNA:polymorphisms:promoter, exon: |
RGD |
PMID:20642202 |
RGD:8693720 |
NCBI chr 1:228,016,439...228,024,736
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G |
Mc1r |
melanocortin 1 receptor |
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ISO |
protein: increased expression: skin |
RGD |
PMID:19889022 |
RGD:5687321 |
NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192
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G |
Mmp9 |
matrix metallopeptidase 9 |
treatment |
ISO |
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RGD |
PMID:27776525 |
RGD:13204759 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Ms4a2 |
membrane spanning 4-domains A2 |
susceptibility |
ISO |
Atopy and bronchial hyperresponsiveness, OMIM:147050 Atopy and bronchial hyperresponsiveness, OMIM:147050 DNA:polymorphism:CDS:amino acid E237G |
RGD |
PMID:8817330 PMID:8817330 |
RGD:1599903, RGD:1599903 |
NCBI chr 1:208,440,179...208,448,716
Ensembl chr 1:208,440,361...208,448,310
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G |
Nat2 |
N-acetyltransferase 2 |
susceptibility no_association |
ISO |
DNA:polymorphisms: :481C>T, 590G>A(human) DNA:polymorphisms: :481C>T,590G>A,857G>A(human) |
RGD |
PMID:16224574 PMID:14528063 |
RGD:8552664, RGD:8552668 |
NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
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G |
Nfkbia |
NFKB inhibitor alpha |
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ISS |
OMIM:603165 |
MouseDO |
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NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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G |
Nfkbiz |
NFKB inhibitor zeta |
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ISS |
OMIM:603165 |
MouseDO |
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NCBI chr11:44,782,676...44,810,723
Ensembl chr11:44,782,676...44,810,723
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G |
Ngf |
nerve growth factor |
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ISO |
protein:increased expression:serum: |
RGD |
PMID:17073871 |
RGD:8657069 |
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
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G |
Ngfr |
nerve growth factor receptor |
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ISO |
protein:increased expression:nerve fibers of the papillary dermis (human) |
RGD |
PMID:16586073 |
RGD:5508452 |
NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
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G |
Ntrk1 |
neurotrophic receptor tyrosine kinase 1 |
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ISO |
protein:increased expression:eosinophil |
RGD |
PMID:18647313 PMID:17223862 |
RGD:5144116, RGD:5684771 |
NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
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G |
Ovol1 |
ovo like transcriptional repressor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23042114 |
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NCBI chr 1:202,855,261...202,868,858
Ensembl chr 1:202,855,265...202,866,831
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G |
Ppara |
peroxisome proliferator activated receptor alpha |
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ISO |
potential therapeutic target with or without glucocorticoid therapy (mouse) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18249437 PMID:21633371 |
RGD:5509940 |
NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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G |
Ppia |
peptidylprolyl isomerase A |
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ISO |
mRNA:increased expression:zone of skin (human) |
RGD |
PMID:32496587 |
RGD:150383342 |
NCBI chr14:81,279,292...81,282,960
Ensembl chr14:81,275,091...81,299,601
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G |
Relb |
RELB proto-oncogene, NF-kB subunit |
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ISO ISS |
OMIM:603165 |
MouseDO RGD |
PMID:10940923 |
RGD:7777149 |
NCBI chr 1:79,257,738...79,285,490
Ensembl chr 1:79,257,725...79,285,507
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G |
S100a8 |
S100 calcium binding protein A8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18336422 |
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NCBI chr 2:176,166,517...176,167,645
Ensembl chr 2:176,167,124...176,167,643
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G |
Sele |
selectin E |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12410700 |
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NCBI chr13:76,402,841...76,412,741
Ensembl chr13:76,403,304...76,412,741
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G |
Selp |
selectin P |
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ISO |
atopy and bronchial hyperresponsiveness, OMIM:147050 |
RGD |
PMID:12929084 |
RGD:1599904 |
NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
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G |
Sharpin |
SHANK-associated RH domain interactor |
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ISS |
OMIM:603165 |
MouseDO |
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NCBI chr 7:108,070,681...108,075,012
Ensembl chr 7:108,070,687...108,074,955
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G |
Shoc2 |
SHOC2 leucine-rich repeat scaffold protein |
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ISO |
associated with Noonan syndrome and related diseases; DNA:mutation:cds:c.4A>G (p.S2G)(human) |
RGD |
PMID:20882035 |
RGD:11071178 |
NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337
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G |
Slc11a1 |
solute carrier family 11 member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16597321 |
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NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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G |
Stat6 |
signal transducer and activator of transcription 6 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:15306842 |
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NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495
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G |
Tgfb1 |
transforming growth factor, beta 1 |
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ISO |
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GAD RGD |
PMID:15118671 PMID:11496247 |
RGD:1331525, RGD:7394812 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Tlr2 |
toll-like receptor 2 |
severity |
ISO |
DNA:polymorphism: :-16934A>T(human) DNA:polymorphism:cds:p.R753Q(human) |
RGD |
PMID:19627277 PMID:22032785 PMID:17531301 |
RGD:8552997, RGD:8553048, RGD:8552999 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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G |
Tlr4 |
toll-like receptor 4 |
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ISO |
DNA:polymorphism: :896G>A(human) mRNA:increased expression:blood cell: |
RGD |
PMID:23821954 PMID:19764566 |
RGD:7794689, RGD:7794745 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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G |
Tmem79 |
transmembrane protein 79 |
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ISS |
OMIM:603165 |
MouseDO |
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NCBI chr 2:173,798,267...173,803,151
Ensembl chr 2:173,798,267...173,803,046
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G |
Tnf |
tumor necrosis factor |
susceptibility |
ISO |
DNA:haplotype:promoter:−308G>A,-238G>A(human) |
RGD |
PMID:22533231 |
RGD:7401246 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Tnfaip6 |
TNF alpha induced protein 6 |
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ISO |
mRNA:altered expression:fibroblast |
RGD |
PMID:16650051 |
RGD:7777183 |
NCBI chr 3:36,502,250...36,521,652
Ensembl chr 3:36,502,188...36,521,649
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G |
Traf3ip2 |
Traf3 interacting protein 2 |
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ISS |
OMIM:603165 |
MouseDO |
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NCBI chr20:43,011,405...43,054,654
Ensembl chr20:43,011,450...43,054,667
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G |
Trpv3 |
transient receptor potential cation channel, subfamily V, member 3 |
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ISS |
OMIM:603165 |
MouseDO |
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NCBI chr10:57,883,546...57,915,865
Ensembl chr10:57,883,546...57,913,296
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G |
Tslp |
thymic stromal lymphopoietin |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16880407 PMID:22355542 PMID:23688403 PMID:27869817 PMID:29310423 |
RGD:38549374 |
NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
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G |
Vdr |
vitamin D receptor |
severity no_association |
ISO |
DNA:SNPs, haplotype: :rs731236, rs1544410, rs7975232 (human) DNA:SNP: :rs2228570 (human) |
RGD |
PMID:23034014 PMID:23034014 |
RGD:8157625, RGD:8157625 |
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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G |
Vnn1 |
vanin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19322213 |
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NCBI chr 1:21,537,084...21,547,395
Ensembl chr 1:21,537,094...21,547,395
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G |
Wasl |
WASP like actin nucleation promoting factor |
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ISS |
OMIM:603165 |
MouseDO |
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NCBI chr 4:53,083,536...53,132,061
Ensembl chr 4:53,083,536...53,132,022
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G |
Flg |
filaggrin |
susceptibility |
ISO |
ClinVar Annotator: match by term: Dermatitis, atopic, 2 | ClinVar Annotator: match by term: Dermatitis, atopic, 2, susceptibility to |
ClinVar OMIM |
PMID:16444271 PMID:16550169 PMID:16815158 PMID:17030239 PMID:17291859 PMID:17417636 PMID:17657246 PMID:18325573 PMID:18396323 PMID:19183181 PMID:19501237 PMID:19538357 PMID:19733298 PMID:19785597 PMID:19839980 PMID:19874431 PMID:20426775 PMID:20573035 PMID:20674819 PMID:21039602 PMID:21365004 PMID:21377035 PMID:21514438 PMID:21564328 PMID:21777221 PMID:22403702 PMID:22407025 PMID:22951058 PMID:22995991 PMID:23039796 PMID:23166590 PMID:23301728 PMID:23343419 PMID:23352160 PMID:23947670 PMID:23993222 PMID:24033266 PMID:24077912 PMID:24251354 PMID:24565632 PMID:24608987 PMID:24920311 PMID:25314673 PMID:25333069 PMID:25741868 PMID:26451970 PMID:27279822 PMID:27363669 PMID:27462351 PMID:28143684 PMID:28164424 PMID:28213896 PMID:28730607 PMID:29054605 PMID:29068602 PMID:29428354 PMID:29431110 PMID:29444371 PMID:29791750 PMID:30665703 PMID:31365035 PMID:31637781 PMID:32066784 More...
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NCBI chr 2:178,888,688...178,912,731
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Pla2g7 |
phospholipase A2 group VII |
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ISO |
ClinVar Annotator: match by term: Dermatitis, atopic, 2 |
ClinVar |
PMID:25741868 |
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NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
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G |
Nlrp1a |
NLR family, pyrin domain containing 1A |
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ISO |
ClinVar Annotator: match by term: Autoinflammation with arthritis and dyskeratosis CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:16918630 PMID:17377159 PMID:24033266 PMID:25741868 PMID:27965258 PMID:28492532 PMID:30291141 More...
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NCBI chr10:55,778,560...55,833,639
Ensembl chr10:55,778,560...55,825,180
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G |
Ripk1 |
receptor interacting serine/threonine kinase 1 |
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ISO |
ClinVar Annotator: match by term: Autoinflammation with episodic fever and lymphadenopathy |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31827280 PMID:31827281 |
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NCBI chr17:30,839,639...30,871,824
Ensembl chr17:30,839,650...30,871,824
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G |
Dpy30 |
dpy-30 histone methyltransferase complex regulatory subunit |
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ISO |
ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis |
ClinVar |
PMID:28492532 |
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NCBI chr 6:21,120,947...21,141,720
Ensembl chr 6:21,120,947...21,141,432
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G |
Memo1 |
mediator of cell motility 1 |
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ISO |
ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis |
ClinVar |
PMID:28492532 |
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NCBI chr 6:21,144,525...21,234,363
Ensembl chr 6:21,125,639...21,234,561
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G |
Nlrc4 |
NLR family, CARD domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis | ClinVar Annotator: match by term: Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4) |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25217959 PMID:25217960 PMID:25385754 PMID:25741868 PMID:27974463 PMID:28492532 PMID:29326099 PMID:29778503 PMID:30319625 PMID:30783801 PMID:30864118 PMID:32081864 PMID:33822359 PMID:34248956 More...
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NCBI chr 6:20,991,785...21,018,254
Ensembl chr 6:20,995,266...21,018,248
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G |
Slc30a6 |
solute carrier family 30 member 6 |
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ISO |
ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis |
ClinVar |
PMID:28492532 |
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NCBI chr 6:21,020,931...21,050,785
Ensembl chr 6:21,020,931...21,050,785
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G |
Spast |
spastin |
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ISO |
ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis |
ClinVar |
PMID:28492532 |
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NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954
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G |
Srd5a2 |
steroid 5 alpha-reductase 2 |
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ISO |
ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis |
ClinVar |
PMID:28492532 |
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NCBI chr 6:21,426,225...21,465,727
Ensembl chr 6:21,426,215...21,462,112
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G |
Xdh |
xanthine dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis |
ClinVar |
PMID:28492532 |
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NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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G |
Hck |
HCK proto-oncogene, Src family tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Autoinflammation with pulmonary and cutaneous vasculitis |
OMIM ClinVar |
PMID:34536415 |
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NCBI chr 3:141,571,587...141,614,696
Ensembl chr 3:141,571,587...141,614,693
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G |
Plcg2 |
phospholipase C, gamma 2 |
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ISO |
ClinVar Annotator: match by term: Autoinflammation, antibody deficiency, and immune dysregulation syndrome | ClinVar Annotator: match by term: Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated |
OMIM ClinVar |
PMID:23000145 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30619256 PMID:34298581 More...
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NCBI chr19:45,547,416...45,683,930
Ensembl chr19:45,547,416...45,683,930
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G |
Col9a3 |
collagen type IX alpha 3 chain |
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ISO |
Oculoskeletal dysplasia 1 |
OMIA |
PMID:830631 PMID:1525714 PMID:3204050 PMID:20686772 PMID:22065099 PMID:31415586 PMID:31595625 PMID:31746146 More...
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NCBI chr 3:167,711,776...167,734,468
Ensembl chr 3:167,711,840...167,734,465
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G |
Jak1 |
Janus kinase 1 |
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ISO |
ClinVar Annotator: match by term: ATOPIC DERMATITIS, ENTERITIS, COLITIS, AND EOSINOPHILIA |
OMIM ClinVar |
PMID:20167706 PMID:24728327 PMID:25356970 PMID:25741868 PMID:28111307 PMID:28492532 PMID:32750333 PMID:35046931 More...
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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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G |
Dnase2 |
deoxyribonuclease 2, lysosomal |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory-pancytopenia syndrome |
OMIM ClinVar |
PMID:24242851 PMID:25741868 PMID:28492532 PMID:29259162 PMID:31775019 |
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NCBI chr19:23,244,661...23,247,329
Ensembl chr19:23,244,664...23,247,376
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G |
Aldh18a1 |
aldehyde dehydrogenase 18 family, member A1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 1:239,375,657...239,407,967
Ensembl chr 1:239,375,669...239,407,890
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G |
Eln |
elastin |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cutis laxa, autosomal dominant |
CTD ClinVar |
PMID:11175284 PMID:12555228 PMID:16894468 PMID:19029017 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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G |
Fbln5 |
fibulin 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755
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G |
Eln |
elastin |
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ISO |
ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 1 |
OMIM ClinVar |
PMID:5046633 PMID:7884000 PMID:8091333 PMID:9215670 PMID:9215671 PMID:9536098 PMID:9580666 PMID:9873040 PMID:10942104 PMID:11175284 PMID:12555228 PMID:15955094 PMID:16085695 PMID:16199547 PMID:17576681 PMID:18348261 PMID:19029017 PMID:19282817 PMID:19593948 PMID:19844261 PMID:20600892 PMID:21309044 PMID:23049958 PMID:23401415 PMID:24033266 PMID:25741868 PMID:26483232 PMID:28391405 PMID:28492532 PMID:29501665 PMID:29555671 PMID:29907982 PMID:31577255 PMID:31589614 More...
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NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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G |
Fbln5 |
fibulin 5 |
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ISO |
ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 2 |
OMIM ClinVar |
PMID:12618961 PMID:21576112 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29653220 More...
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NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755
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G |
Aldh18a1 |
aldehyde dehydrogenase 18 family, member A1 |
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ISO |
ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 3 |
OMIM ClinVar |
PMID:8779323 PMID:9536098 PMID:9643297 PMID:16199547 PMID:17576681 PMID:21739576 PMID:24913064 PMID:25741868 PMID:26026163 PMID:26297558 PMID:26320891 PMID:26829900 PMID:28228640 PMID:28492532 More...
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NCBI chr 1:239,375,657...239,407,967
Ensembl chr 1:239,375,669...239,407,890
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G |
Terc |
telomerase RNA component |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 2:112,815,654...112,816,041
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G |
Tert |
telomerase reverse transcriptase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
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G |
Tinf2 |
TERF1 interacting nuclear factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
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G |
Actrt3 |
actin-related protein T3 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:112,799,061...112,801,021
Ensembl chr 2:112,799,011...112,801,075
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Gpr160 |
G protein-coupled receptor 160 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:112,483,364...112,563,072
Ensembl chr 2:112,484,935...112,563,148
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Inpp4a |
inositol polyphosphate-4-phosphatase type I A |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 |
ClinVar |
PMID:15849264 PMID:21931702 PMID:25741868 |
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NCBI chr 9:39,528,245...39,650,574
Ensembl chr 9:39,528,674...39,646,581
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Lrrc31 |
leucine rich repeat containing 31 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:112,702,844...112,725,431
Ensembl chr 2:112,700,136...112,724,322
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Lrrc34 |
leucine rich repeat containing 34 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:112,752,294...112,774,463
Ensembl chr 2:112,754,578...112,774,459
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Lrriq4 |
leucine-rich repeats and IQ motif containing 4 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:112,729,298...112,756,338
Ensembl chr 2:112,729,417...112,753,234
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Mecom |
MDS1 and EVI1 complex locus |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 |
ClinVar |
PMID:25741868 PMID:27192671 |
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NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590
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Mynn |
myoneurin |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:112,779,654...112,797,188
Ensembl chr 2:112,779,657...112,796,397
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Phc3 |
polyhomeotic homolog 3 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:112,408,709...112,483,719
Ensembl chr 2:112,408,531...112,476,540
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Prkci |
protein kinase C, iota |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:112,321,919...112,382,305
Ensembl chr 2:112,321,929...112,382,352
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Rtel1 |
regulator of telomere elongation helicase 1 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29344583 PMID:30523342 More...
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NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
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Samd7 |
sterile alpha motif domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:112,624,942...112,639,549
Ensembl chr 2:112,624,942...112,639,549
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Sec62 |
SEC62 homolog, preprotein translocation factor |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:112,570,810...112,607,576
Ensembl chr 2:112,570,819...112,601,814
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Skil |
SKI-like proto-oncogene |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:112,247,047...112,275,176
Ensembl chr 2:112,247,051...112,275,080
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Terc |
telomerase RNA component |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 |
OMIM ClinVar |
PMID:10721988 PMID:11574891 PMID:12090986 PMID:12676774 PMID:12972604 PMID:14630445 PMID:15082312 PMID:15098033 PMID:15319288 PMID:15550482 PMID:15886322 PMID:16332973 PMID:17460043 PMID:17640862 PMID:18931339 PMID:19095616 PMID:19835419 PMID:20022961 PMID:20193600 PMID:21844345 PMID:21931702 PMID:22341970 PMID:24033266 PMID:24763404 PMID:25612863 PMID:25741868 PMID:26024875 PMID:26136524 PMID:27192671 PMID:27622320 PMID:28192371 PMID:28492532 PMID:29146883 PMID:30426156 PMID:30523342 PMID:31265491 More...
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NCBI chr 2:112,815,654...112,816,041
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Tert |
telomerase reverse transcriptase |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 |
ClinVar |
PMID:12167716 PMID:15885610 PMID:16247010 PMID:18042801 PMID:18635888 PMID:18931339 PMID:20301779 PMID:21602826 PMID:23901009 PMID:24033266 PMID:25365545 PMID:25741868 PMID:26360549 PMID:27418648 PMID:28154186 PMID:28492532 PMID:30523342 More...
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NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
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Tgm1 |
transglutaminase 1 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 |
ClinVar |
PMID:18669893 PMID:20301779 PMID:21199492 PMID:22211879 PMID:25741868 PMID:28492532 More...
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NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
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Tinf2 |
TERF1 interacting nuclear factor 2 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 |
ClinVar |
PMID:18252230 PMID:18669893 PMID:19090550 PMID:20301779 PMID:21199492 PMID:21477109 PMID:21536674 PMID:22211879 PMID:23094712 PMID:25741868 PMID:26083318 PMID:26859482 PMID:28492532 PMID:29742735 More...
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NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
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Brd9 |
bromodomain containing 9 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 |
ClinVar |
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 |
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NCBI chr 1:29,329,974...29,357,285
Ensembl chr 1:29,329,985...29,357,016
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Cep72 |
centrosomal protein 72 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 |
ClinVar |
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 |
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NCBI chr 1:29,225,312...29,255,294
Ensembl chr 1:29,225,361...29,255,271
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Clptm1l |
CLPTM1-like |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 |
ClinVar |
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 |
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NCBI chr 1:29,667,545...29,683,530
Ensembl chr 1:29,667,545...29,683,530
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Irx4 |
iroquois homeobox 4 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 |
ClinVar |
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 |
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NCBI chr 1:30,030,561...30,039,549
Ensembl chr 1:30,030,561...30,039,549
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Lpcat1 |
lysophosphatidylcholine acyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 |
ClinVar |
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 |
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NCBI chr 1:29,766,070...29,816,401
Ensembl chr 1:29,766,071...29,816,401
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Mrpl36 |
mitochondrial ribosomal protein L36 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 |
ClinVar |
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 |
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NCBI chr 1:29,965,481...29,968,896
Ensembl chr 1:29,965,317...29,968,807
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Ndufs6 |
NADH:ubiquinone oxidoreductase subunit S6 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 |
ClinVar |
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 |
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NCBI chr 2:27,201,713...27,202,126
Ensembl chr 2:27,201,713...27,202,258
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Nkd2 |
NKD inhibitor of WNT signaling pathway 2 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 |
ClinVar |
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 |
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NCBI chr 1:29,442,898...29,470,839
Ensembl chr 1:29,441,328...29,470,821
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Slc12a7 |
solute carrier family 12 member 7 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 |
ClinVar |
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 |
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NCBI chr 1:29,472,692...29,554,246
Ensembl chr 1:29,472,692...29,554,302
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Slc6a18 |
solute carrier family 6 member 18 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 |
ClinVar |
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 |
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NCBI chr 1:29,607,288...29,621,925
Ensembl chr 1:29,608,077...29,621,925
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Slc6a19 |
solute carrier family 6 member 19 |
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ISO |
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 |
ClinVar |
PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 |
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NCBI chr 1:29,586,205...29,604,960
Ensembl chr 1:29,586,195...29,604,962
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