|
G |
Actmap |
actin maturation protease |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,490,313...82,499,841
Ensembl chr 1:82,490,363...82,499,841
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|
G |
Akt2 |
AKT serine/threonine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817
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|
G |
Alox12b |
arachidonate 12-lipoxygenase, 12R type |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
|
|
NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
|
|
G |
Alox15b |
arachidonate 15-lipoxygenase, type B |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
|
|
NCBI chr10:53,892,496...53,901,812
Ensembl chr10:53,892,466...53,901,812
|
|
G |
Aloxe3 |
arachidonate lipoxygenase 3 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
|
|
NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
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|
G |
Arhgef1 |
Rho guanine nucleotide exchange factor 1 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,499,026...80,520,954
Ensembl chr 1:80,499,131...80,520,953
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|
G |
Arhgef15 |
Rho guanine nucleotide exchange factor 15 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 PMID:23172776 PMID:28492532 More...
|
|
NCBI chr10:53,650,521...53,663,269
Ensembl chr10:53,650,553...53,663,913
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|
G |
Atp1a3 |
ATPase Na+/K+ transporting subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
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|
G |
Aurkb |
aurora kinase B |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
|
|
NCBI chr10:53,744,290...53,750,831
Ensembl chr10:53,745,142...53,750,837
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|
G |
Axl |
Axl receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,265,088...81,296,278
Ensembl chr 1:81,265,088...81,296,265
|
|
G |
B3gnt8 |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,135,602...81,138,501
Ensembl chr 1:81,135,499...81,142,263
|
|
G |
B9d2 |
B9 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356
|
|
G |
Bckdha |
branched chain keto acid dehydrogenase E1 subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862
|
|
G |
Blvrb |
biliverdin reductase B |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,738,646...82,756,312
Ensembl chr 1:82,738,695...82,770,375
|
|
G |
Borcs6 |
BLOC-1 related complex subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
|
|
NCBI chr10:53,760,504...53,762,358
Ensembl chr10:53,758,093...53,762,632
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|
G |
C1h19orf47 |
similar to human chromosome 19 open reading frame 47 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,844,309...82,871,187
Ensembl chr 1:82,844,286...82,868,320
|
|
G |
Ccdc97 |
coiled-coil domain containing 97 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,219,225...81,227,017
Ensembl chr 1:81,219,230...81,226,986
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|
G |
Cd79a |
CD79a molecule |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,493,581...80,497,936
Ensembl chr 1:80,493,581...80,497,935
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|
G |
Ceacam15 |
CEA cell adhesion molecule 15 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:77,368,376...77,373,343
Ensembl chr 1:77,368,966...77,372,663
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|
G |
Ceacam4 |
CEA cell adhesion molecule 4 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,376,667...80,382,943
Ensembl chr 1:80,376,648...80,382,915
|
|
G |
Ceacam6 |
CEA cell adhesion molecule 6 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,416,531...80,434,668
Ensembl chr 1:80,416,531...80,434,668
|
|
G |
Chd3 |
chromodomain helicase DNA binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
|
|
NCBI chr10:54,063,629...54,090,030
Ensembl chr10:54,063,629...54,090,047
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|
G |
Cic |
capicua transcriptional repressor |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,853,920...80,880,537
Ensembl chr 1:80,853,920...80,880,532
|
|
G |
Cnfn |
cornifelin |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,949,699...80,953,747
Ensembl chr 1:80,951,600...80,953,747
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|
G |
Cntrob |
centrobin, centriole duplication and spindle assembly protein |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
|
|
NCBI chr10:54,022,523...54,047,793
Ensembl chr10:54,022,852...54,044,849
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|
G |
Coq8b |
coenzyme Q8B |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,525,578...82,549,182
Ensembl chr 1:82,526,568...82,549,180
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|
G |
Ctc1 |
CST telomere replication complex component 1 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 PMID:23172776 PMID:28492532 More...
|
|
NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
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|
G |
Cyb5d1 |
cytochrome b5 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
|
|
NCBI chr10:54,113,428...54,117,744
Ensembl chr10:54,113,438...54,117,911
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|
G |
Cyp2a1 |
cytochrome P450, family 2, subfamily a, polypeptide 1 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,231,611...82,244,887
Ensembl chr 1:82,231,611...82,244,887
|
|
G |
Cyp2a3 |
cytochrome P450, family 2, subfamily a, polypeptide 3 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,171,914...82,179,980
Ensembl chr 1:82,169,949...82,179,979
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|
G |
Cyp2b3 |
cytochrome P450, family 2, subfamily b, polypeptide 3 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,652,762...81,732,153
Ensembl chr 1:81,652,787...81,732,143
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|
G |
Cyp2f4 |
cytochrome P450, family 2, subfamily f, polypeptide 4 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,416,107...82,429,897
Ensembl chr 1:82,416,130...82,429,896
|
|
G |
Cyp2s1 |
cytochrome P450, family 2, subfamily s, polypeptide 1 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,309,948...81,325,303
Ensembl chr 1:81,310,451...81,325,303
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|
G |
Dedd2 |
death effector domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,789,084...80,807,789
Ensembl chr 1:80,792,000...80,807,714
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|
G |
Dipk1a |
divergent protein kinase domain 1A |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 PMID:22689679 PMID:23718193 PMID:23744582 PMID:25741868 PMID:25946618 PMID:27432187 PMID:28492532 PMID:28694211 PMID:28991257 PMID:30183354 PMID:30503522 More...
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|
NCBI chr14:1,772,412...1,843,508
Ensembl chr14:1,772,422...1,843,743
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G |
Dll3 |
delta like canonical Notch ligand 3 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750
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G |
Dmac2 |
distal membrane arm assembly component 2 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,128,760...81,134,810
Ensembl chr 1:81,128,857...81,134,812
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|
G |
Dmrtc2 |
DMRT-like family C2 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,466,259...80,473,883
Ensembl chr 1:80,466,132...80,473,531
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|
G |
Dnah2 |
dynein, axonemal, heavy chain 2 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
|
|
NCBI chr10:54,142,648...54,268,901
Ensembl chr10:54,142,737...54,267,298
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|
G |
Dyrk1b |
dual specificity tyrosine phosphorylation regulated kinase 1B |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,479,168...83,497,011
Ensembl chr 1:83,479,147...83,487,169
|
|
G |
Efnb3 |
ephrin B3 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
|
|
NCBI chr10:54,274,506...54,281,951
Ensembl chr10:54,274,506...54,280,471
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G |
Egln2 |
egl-9 family hypoxia-inducible factor 2 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,451,554...82,459,809
Ensembl chr 1:82,451,555...82,459,751
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|
G |
Eid2 |
EP300 interacting inhibitor of differentiation 2 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,538,274...83,539,599
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G |
Eid2b |
EP300 interacting inhibitor of differentiation 2B |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,545,530...83,547,338
Ensembl chr 1:83,545,563...83,546,734
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|
G |
Erf |
Ets2 repressor factor |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
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|
G |
Erich4 |
glutamate-rich 4 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,123,556...81,125,296
Ensembl chr 1:81,123,556...81,125,296
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G |
Exosc5 |
exosome component 5 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,168,128...81,177,266
Ensembl chr 1:81,166,023...81,177,265
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G |
Fbl |
fibrillarin |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,469,832...83,478,932
Ensembl chr 1:83,469,832...83,478,932
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|
G |
Fcgbp |
Fc gamma binding protein |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,374,979...83,413,082
Ensembl chr 1:83,372,127...83,413,083
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G |
Flvcr1 |
FLVCR choline and heme transporter 1 |
|
ISS |
OMIM:105650 | OMIM:606129 | OMIM:610629 | OMIM:612527 | OMIM:612528 | OMIM:612561 | OMIM:612562 | OMIM:612563 | OMIM:613308 | OMIM:613309 | OMIM:614900 | OMIM:615550 | OMIM:615909 |
MouseDO |
|
|
NCBI chr13:102,586,263...102,608,647
Ensembl chr13:102,586,257...102,608,661
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G |
Gata1 |
GATA binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:871527 PMID:3164080 PMID:8628290 PMID:9536098 PMID:11566888 PMID:12200364 PMID:14691578 PMID:15070711 PMID:15895080 PMID:15920471 PMID:16095949 PMID:16199547 PMID:16783379 PMID:17209061 PMID:17576681 PMID:17881640 PMID:19172521 PMID:20301538 PMID:20729467 PMID:22706301 PMID:23704091 PMID:24255919 PMID:24453067 PMID:24728327 PMID:24766296 PMID:24952648 PMID:25741868 PMID:27993330 PMID:28492532 PMID:29146883 PMID:35030251 More...
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|
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
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G |
Gh1 |
growth hormone 1 |
treatment |
ISO |
|
RGD |
PMID:25492299 |
RGD:11352737 |
NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
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|
G |
Glod5 |
glyoxalase domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:28492532 |
|
NCBI chr X:14,473,994...14,488,797
Ensembl chr X:14,473,994...14,488,683
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G |
Grik5 |
glutamate ionotropic receptor kainate type subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,605,878...80,667,896
Ensembl chr 1:80,605,892...80,667,125
|
|
G |
Gsk3a |
glycogen synthase kinase 3 alpha |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,815,843...80,825,732
Ensembl chr 1:80,815,850...80,825,802
|
|
G |
Gucy2d |
guanylate cyclase 2D, retinal |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
|
|
NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
|
|
G |
Heatr3 |
HEAT repeat containing 3 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:35213692 |
|
NCBI chr19:18,892,477...18,930,502
Ensembl chr19:18,893,144...18,930,509
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|
G |
Hes7 |
hes family bHLH transcription factor 7 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
|
|
NCBI chr10:53,824,124...53,828,934
Ensembl chr10:53,825,574...53,828,097
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|
G |
Hipk4 |
homeodomain interacting protein kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,810,708...82,821,080
Ensembl chr 1:82,810,708...82,821,077
|
|
G |
Hnrnpul1 |
heterogeneous nuclear ribonucleoprotein U-like 1 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,228,404...81,264,121
Ensembl chr 1:81,228,404...81,262,592
|
|
G |
Iqcg |
IQ motif containing G |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:18535205 PMID:25424902 PMID:25741868 PMID:25946618 PMID:28492532 PMID:29146883 More...
|
|
NCBI chr11:67,730,117...67,771,170
Ensembl chr11:67,730,247...67,771,168
|
|
G |
Itpkc |
inositol-trisphosphate 3-kinase C |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,500,957...82,522,533
Ensembl chr 1:82,500,957...82,522,779
|
|
G |
Kcnab3 |
potassium voltage-gated channel subfamily A regulatory beta subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
|
|
NCBI chr10:54,047,830...54,056,401
Ensembl chr10:54,047,825...54,054,174
|
|
G |
Kdm6b |
lysine demethylase 6B |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
|
|
NCBI chr10:54,120,716...54,142,212
Ensembl chr10:54,121,848...54,130,794
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|
G |
Klf1 |
KLF transcription factor 1 |
|
ISO |
mRNA:decreased expression:bone marrow, blood |
RGD |
PMID:22965552 |
RGD:10769343 |
NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758
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|
G |
Lgals5 |
galectin 5 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:63,853,949...63,857,198
Ensembl chr10:63,853,935...63,857,153
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|
G |
Lipe |
lipase E, hormone sensitive type |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,965,612...80,984,313
Ensembl chr 1:80,965,627...80,984,310
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|
G |
Ltbp4 |
latent transforming growth factor beta binding protein 4 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,600,136...82,634,346
Ensembl chr 1:82,600,136...82,632,178
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|
G |
Lypd4 |
Ly6/Plaur domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,460,487...80,466,105
Ensembl chr 1:80,460,487...80,466,011
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|
G |
Map3k10 |
mitogen activated protein kinase kinase kinase 10 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,955,784...82,974,084
Ensembl chr 1:82,955,207...82,974,084
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|
G |
Megf8 |
multiple EGF-like-domains 8 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,902,236...80,951,614
Ensembl chr 1:80,902,574...80,951,613
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G |
Mia |
MIA SH3 domain containing |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,473,677...82,476,378
Ensembl chr 1:82,473,678...82,475,370
|
|
G |
Naa38 |
N(alpha)-acetyltransferase 38, NatC auxiliary subunit |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
|
|
NCBI chr10:54,117,754...54,118,913
Ensembl chr10:54,117,163...54,119,494
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|
G |
Numbl |
NUMB-like, endocytic adaptor protein |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,549,814...82,573,788
Ensembl chr 1:82,550,054...82,573,776
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|
G |
Odf4 |
outer dense fiber of sperm tails 4 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 PMID:23172776 PMID:28492532 More...
|
|
NCBI chr10:53,628,592...53,634,525
Ensembl chr10:53,628,759...53,634,359
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|
G |
Pafah1b3 |
platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,881,263...80,883,789
Ensembl chr 1:80,881,309...80,883,893
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|
G |
Per1 |
period circadian regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
|
|
NCBI chr10:53,800,126...53,814,963
Ensembl chr10:53,805,535...53,814,431
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|
G |
Pfas |
phosphoribosylformylglycinamidine synthase |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 PMID:23172776 PMID:28492532 More...
|
|
NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420
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G |
Pld3 |
phospholipase D family, member 3 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,821,863...82,844,280
Ensembl chr 1:82,821,875...82,844,072
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|
G |
Plekhg2 |
pleckstrin homology and RhoGEF domain containing G2 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,651,902...83,665,063
Ensembl chr 1:83,647,748...83,665,063
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|
G |
Polr3a |
RNA polymerase III subunit A |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22855961 PMID:25741868 PMID:27029625 |
|
NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
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|
G |
Pou2f2 |
POU class 2 homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,682,330...80,769,756
Ensembl chr 1:80,685,741...80,724,261
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|
G |
Prr19 |
proline rich 19 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,884,529...80,890,712
Ensembl chr 1:80,887,151...80,890,168
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|
G |
Prx |
periaxin |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407
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|
G |
Psmc4 |
proteasome 26S subunit, ATPase 4 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,349,127...83,357,497
Ensembl chr 1:83,348,592...83,357,494
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|
G |
Rab4b |
RAB4B, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,461,396...82,472,784
Ensembl chr 1:82,461,396...82,472,763
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G |
Rabac1 |
Rab acceptor 1 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,564,029...80,567,164
Ensembl chr 1:80,564,033...80,567,163
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|
G |
Rangrf |
RAN guanine nucleotide release factor |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 PMID:23172776 PMID:28492532 More...
|
|
NCBI chr10:53,677,467...53,678,880
Ensembl chr10:53,677,467...53,678,840
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|
G |
Rnf227 |
ring finger protein 227 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
|
|
NCBI chr10:54,061,054...54,063,015
Ensembl chr10:54,059,947...54,063,010
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|
G |
Rpl11 |
ribosomal protein L11 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:19773262 PMID:20960466 PMID:22689679 PMID:23718193 PMID:25741868 PMID:26136524 PMID:26185635 PMID:28492532 PMID:30503522 More...
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|
NCBI chr 5:148,274,060...148,277,708
Ensembl chr 5:148,274,069...148,277,599
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G |
Rpl19 |
ribosomal protein L19 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:83,022,503...83,026,030
Ensembl chr10:83,019,257...83,052,112
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G |
Rpl26 |
ribosomal protein L26 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 PMID:23172776 PMID:25741868 PMID:28492532 More...
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|
NCBI chr10:53,610,836...53,613,966
Ensembl chr10:53,610,421...53,613,966
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|
G |
Rpl35a |
ribosomal protein L35A |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:18535205 PMID:25424902 PMID:25741868 PMID:25946618 PMID:28492532 PMID:29146883 More...
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|
NCBI chr11:67,726,031...67,729,953
Ensembl chr11:67,726,032...67,729,942 Ensembl chr 5:67,726,032...67,729,942
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|
G |
Rpl5 |
ribosomal protein L5 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20378560 PMID:20960466 PMID:22689679 PMID:23718193 PMID:23744582 PMID:25741868 PMID:25946618 PMID:27432187 PMID:28492532 PMID:28694211 PMID:28991257 PMID:30183354 PMID:30503522 PMID:33718801 More...
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|
NCBI chr14:1,843,856...1,850,301
Ensembl chr14:1,843,770...1,850,290
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|
G |
Rps10 |
ribosomal protein S10 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20116044 PMID:20159986 PMID:23718193 PMID:25741868 PMID:28065601 PMID:28132843 PMID:28492532 More...
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|
NCBI chr20:5,694,313...5,698,922
Ensembl chr20:5,694,313...5,699,044 Ensembl chr 6:5,694,313...5,699,044
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G |
Rps10l6 |
ribosomal protein S10-like 6 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20116044 PMID:23718193 PMID:25741868 PMID:28492532 More...
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|
NCBI chr15:18,308,287...18,309,139
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|
G |
Rps16 |
ribosomal protein S16 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,643,066...83,646,056
Ensembl chr 1:83,643,130...83,646,206
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|
G |
Rps17 |
ribosomal protein S17 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diamond-Blackfan anemia |
CTD ClinVar |
PMID:17647292 PMID:19953637 PMID:25741868 |
|
NCBI chr 1:135,295,920...135,298,506
Ensembl chr 1:135,295,919...135,298,535 Ensembl chr 8:135,295,919...135,298,535
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G |
Rps19 |
ribosomal protein S19 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia |
CTD ClinVar |
PMID:3769971 PMID:9536098 PMID:9988267 PMID:10590074 PMID:10598818 PMID:10753603 PMID:11112378 PMID:12586610 PMID:12750732 PMID:15059149 PMID:15075082 PMID:15384984 PMID:15523650 PMID:16159874 PMID:16199547 PMID:17053056 PMID:17082006 PMID:17376718 PMID:17517689 PMID:17576681 PMID:17726054 PMID:18217898 PMID:18412286 PMID:18768533 PMID:19689926 PMID:20378560 PMID:20395159 PMID:20603584 PMID:20606162 PMID:20960466 PMID:22045982 PMID:22262766 PMID:22381658 PMID:22783360 PMID:23349008 PMID:24033266 PMID:24675553 PMID:24952648 PMID:25042156 PMID:25132370 PMID:25381059 PMID:25703294 PMID:25741868 PMID:25946618 PMID:26136524 PMID:26604301 PMID:27329125 PMID:27882484 PMID:28102861 PMID:28376382 PMID:28492532 PMID:29114930 PMID:29766597 PMID:30503522 PMID:31574871 PMID:33718801 PMID:35923690 PMID:36321656 More...
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NCBI chr 1:80,480,718...80,486,511
Ensembl chr 1:80,480,951...80,486,508
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G |
Rps20 |
ribosomal protein S20 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:25741868 PMID:32790018 |
|
NCBI chr 5:16,819,095...16,820,476
Ensembl chr 5:16,819,304...16,820,475 Ensembl chr 9:16,819,304...16,820,475 Ensembl chr 3:16,819,304...16,820,475
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G |
Rps24 |
ribosomal protein S24 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:9536098 PMID:17186470 PMID:17576681 PMID:19689926 PMID:20960466 PMID:22855961 PMID:25741868 PMID:26136524 PMID:27029625 PMID:28492532 PMID:29748317 More...
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NCBI chr16:89,538...94,267
Ensembl chr16:89,604...94,279
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|
G |
Rps26 |
ribosomal protein S26 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:19816270 PMID:20116044 PMID:22381658 PMID:23718193 PMID:24675553 PMID:24942156 PMID:25741868 PMID:26136524 PMID:26604301 PMID:27329125 PMID:28102861 PMID:28492532 More...
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NCBI chr 7:1,057,332...1,058,882
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|
G |
Rps7 |
ribosomal protein S7 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:25741868 PMID:26136524 PMID:28492532 |
|
NCBI chr 6:45,266,200...45,271,064
Ensembl chr 6:45,223,980...45,271,145
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G |
Rpsa |
ribosomal protein SA |
|
ISS |
OMIM:105650 | OMIM:606129 | OMIM:610629 | OMIM:612527 | OMIM:612528 | OMIM:612561 | OMIM:612562 | OMIM:612563 | OMIM:613308 | OMIM:613309 | OMIM:614900 | OMIM:615550 | OMIM:615909 |
MouseDO |
|
|
NCBI chr 8:119,851,225...119,855,103
Ensembl chr 8:119,851,225...119,855,247
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|
G |
Scarna21 |
small Cajal body-specific RNA 21 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
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NCBI chr10:54,070,959...54,071,098
Ensembl chr10:54,070,959...54,071,098
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G |
Selenov |
selenoprotein V |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,551,473...83,558,756
Ensembl chr 1:83,551,473...83,558,756
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G |
Sertad1 |
SERTA domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,775,692...82,778,961
Ensembl chr 1:82,775,252...82,779,091
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G |
Sertad3 |
SERTA domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,763,535...82,767,271
Ensembl chr 1:82,763,149...82,769,001
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G |
Shkbp1 |
Sh3kbp1 binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,636,797...82,650,330
Ensembl chr 1:82,636,797...82,650,375
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G |
Slc25a35 |
solute carrier family 25, member 35 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 PMID:23172776 PMID:28492532 More...
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NCBI chr10:53,672,851...53,677,501
Ensembl chr10:53,673,340...53,698,160
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G |
Snora66 |
small nucleolar RNA, H/ACA box 66 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
|
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NCBI chr14:1,844,373...1,844,504
Ensembl chr14:1,844,373...1,844,504
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G |
Snord118 |
small nucleolar RNA, C/D box 118 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
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|
NCBI chr10:53,774,811...53,774,946
Ensembl chr10:53,774,811...53,774,946
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G |
Snord21 |
small nucleolar RNA, C/D box 21 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 |
|
NCBI chr14:1,847,134...1,847,227
Ensembl chr14:1,847,134...1,847,227
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G |
Snrpa |
small nuclear ribonucleoprotein polypeptide A |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,481,770...82,490,540
Ensembl chr 1:82,481,770...82,490,538
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G |
Sptbn4 |
spectrin, beta, non-erythrocytic 4 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:82,650,750...82,738,345
Ensembl chr 1:82,650,751...82,737,228
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G |
Supt5h |
SPT5 homolog, DSIF elongation factor subunit |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,586,713...83,616,971
Ensembl chr 1:83,586,718...83,616,892
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G |
Suv39h1 |
SUV39H1 histone lysine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:28492532 |
|
NCBI chr X:14,421,028...14,433,993
Ensembl chr X:14,421,109...14,433,982
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G |
Suv39h1-ps1 |
SUV39H1 histone lysine methyltransferase, pseudogene 1 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:28492532 |
|
NCBI chr X:141,792,589...141,795,257
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G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Timm50 |
translocase of inner mitochondrial membrane 50 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:83,574,872...83,582,748
Ensembl chr 1:83,556,757...83,582,793
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G |
Tmem107 |
transmembrane protein 107 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
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|
NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676
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G |
Tmem145 |
transmembrane protein 145 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:80,891,888...80,901,615
Ensembl chr 1:80,891,927...80,901,611
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G |
Tmem88 |
transmembrane protein 88 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
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|
NCBI chr10:54,118,752...54,120,447
Ensembl chr10:54,118,752...54,120,447
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G |
Tmem91 |
transmembrane protein 91 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:81,179,483...81,187,005
Ensembl chr 1:81,179,156...81,185,164
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G |
Tp53 |
tumor protein p53 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:25741868 PMID:28492532 PMID:30146126 More...
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|
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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|
G |
Trappc1 |
trafficking protein particle complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
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|
NCBI chr10:54,045,598...54,047,184
Ensembl chr10:54,045,537...54,047,331
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|
G |
Ttc9b |
tetratricopeptide repeat domain 9B |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,953,434...82,955,659
Ensembl chr 1:82,953,434...82,955,616
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Vamp2 |
vesicle-associated membrane protein 2 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
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NCBI chr10:53,793,581...53,797,815
Ensembl chr10:53,793,923...53,797,809
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Was |
WASP actin nucleation promoting factor |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:28492532 |
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NCBI chr X:14,405,105...14,413,850
Ensembl chr X:14,405,124...14,413,849
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Wrap53 |
WD repeat containing, antisense to TP53 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
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NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929
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Zfp11 |
zinc finger protein 11 |
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ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr12:27,028,067...27,040,846
Ensembl chr12:27,028,115...27,041,365
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Zfp526 |
zinc finger protein 526 |
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ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,807,791...80,817,852
Ensembl chr 1:80,806,972...80,818,180
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Zfp574 |
zinc finger protein 574 |
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ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,667,984...80,678,257
Ensembl chr 1:80,664,259...80,679,427
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Znf780b |
zinc finger protein 780B |
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ISO |
ClinVar Annotator: match by term: Aase syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,009,174...83,030,463
Ensembl chr 1:83,009,189...83,082,107
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Dipk1a |
divergent protein kinase domain 1A |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 |
ClinVar |
PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 PMID:23718193 PMID:25741868 PMID:28492532 More...
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NCBI chr14:1,772,412...1,843,508
Ensembl chr14:1,772,422...1,843,743
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Heatr3 |
HEAT repeat containing 3 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 |
ClinVar |
PMID:25741868 PMID:35213692 |
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NCBI chr19:18,892,477...18,930,502
Ensembl chr19:18,893,144...18,930,509
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Rpl5 |
ribosomal protein L5 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 |
ClinVar |
PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 PMID:23718193 PMID:25741868 PMID:28492532 More...
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NCBI chr14:1,843,856...1,850,301
Ensembl chr14:1,843,770...1,850,290
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Rps19 |
ribosomal protein S19 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 |
OMIM ClinVar |
PMID:9988267 PMID:10590074 PMID:10598818 PMID:10753603 PMID:11112378 PMID:12586610 PMID:12750732 PMID:15384984 PMID:16159874 PMID:17053056 PMID:17082006 PMID:17517689 PMID:17726054 PMID:18412286 PMID:18768533 PMID:20378560 PMID:20395159 PMID:20606162 PMID:20960466 PMID:23812780 PMID:24033266 PMID:24675553 PMID:24952648 PMID:25741868 PMID:27329125 PMID:28102861 PMID:28376382 PMID:28492532 PMID:31574871 PMID:33718801 More...
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NCBI chr 1:80,480,718...80,486,511
Ensembl chr 1:80,480,951...80,486,508
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Ikzf4 |
IKAROS family zinc finger 4 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 |
ClinVar |
PMID:20116044 PMID:22045982 PMID:22689679 PMID:23718193 PMID:23812780 PMID:28492532 More...
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NCBI chr 7:1,063,283...1,102,940
Ensembl chr 7:1,056,890...1,084,341
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Rps26 |
ribosomal protein S26 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 |
OMIM CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17483715 PMID:17576681 PMID:19816270 PMID:20116044 PMID:21414820 PMID:22045982 PMID:22381658 PMID:22689679 PMID:23718193 PMID:23812780 PMID:24675553 PMID:24942156 PMID:25741868 PMID:26136524 PMID:28102861 PMID:28492532 PMID:29114930 More...
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NCBI chr 7:1,057,332...1,058,882
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Suox |
sulfite oxidase |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 |
ClinVar |
PMID:20116044 PMID:22045982 PMID:22689679 PMID:23718193 PMID:28492532 |
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NCBI chr 7:1,103,149...1,107,156
Ensembl chr 7:1,103,151...1,107,038
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Rpl26 |
ribosomal protein L26 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diamond-Blackfan anemia 11 |
OMIM CTD ClinVar |
PMID:22431104 PMID:25741868 PMID:28492532 |
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NCBI chr10:53,610,836...53,613,966
Ensembl chr10:53,610,421...53,613,966
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Nkiras1 |
NFKB inhibitor interacting Ras-like 1 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 12 | ClinVar Annotator: match by term: RPL15-related condition |
ClinVar |
PMID:23812780 PMID:25741868 PMID:28492532 PMID:29599205 |
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NCBI chr15:7,493,531...7,503,758
Ensembl chr15:7,493,531...7,503,854
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Rpl15 |
ribosomal protein L15 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diamond-Blackfan anemia 12 | ClinVar Annotator: match by term: RPL15-related condition |
OMIM CTD ClinVar |
PMID:23812780 PMID:25741868 PMID:28492532 PMID:29599205 |
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NCBI chr15:7,503,883...7,507,166
Ensembl chr15:7,503,883...7,507,165
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Rps29 |
ribosomal protein S29 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diamond-Blackfan anemia 13 |
OMIM CTD ClinVar |
PMID:24829207 PMID:25741868 PMID:28492532 |
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NCBI chr 6:87,635,229...87,636,627
Ensembl chr 6:87,635,230...87,636,636
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Tsr2 |
TSR2, ribosome maturation factor |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis |
OMIM CTD ClinVar |
PMID:11424144 PMID:24942156 PMID:25741868 PMID:28492532 |
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NCBI chr X:20,064,102...20,072,673
Ensembl chr X:20,064,103...20,072,620
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Rps26 |
ribosomal protein S26 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis |
ClinVar |
PMID:17483715 PMID:19816270 PMID:20116044 PMID:23718193 PMID:24675553 PMID:24942156 PMID:28492532 More...
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NCBI chr 7:1,057,332...1,058,882
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Rps28 |
ribosomal protein S28 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis |
OMIM CTD ClinVar |
PMID:24942156 PMID:25741868 |
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NCBI chr 7:14,607,801...14,609,170
Ensembl chr 7:14,607,801...14,609,170 Ensembl chr16:14,607,801...14,609,170
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Tsr2 |
TSR2, ribosome maturation factor |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis |
ClinVar |
PMID:11424144 PMID:24942156 |
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NCBI chr X:20,064,102...20,072,673
Ensembl chr X:20,064,103...20,072,620
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Rpl27 |
ribosomal protein L27 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diamond-Blackfan anemia 16 |
OMIM CTD ClinVar |
PMID:25424902 PMID:25741868 PMID:28492532 |
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NCBI chr10:86,375,511...86,379,210
Ensembl chr10:86,375,454...86,379,193
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Rps27 |
ribosomal protein S27 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diamond-Blackfan anemia 17 |
OMIM CTD ClinVar |
PMID:25424902 PMID:25741868 |
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NCBI chr 2:175,665,858...175,666,963
Ensembl chr 2:175,665,853...175,666,964
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Rpl18 |
ribosomal protein L18 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 18 |
ClinVar OMIM |
PMID:28280134 |
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NCBI chr 1:96,188,811...96,191,452
Ensembl chr 1:96,188,112...96,191,452
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Rpl35 |
ribosomal protein L35 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 19 |
ClinVar OMIM |
PMID:28280134 |
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NCBI chr 3:22,753,255...22,756,217
Ensembl chr 3:22,753,253...22,756,243
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Rps15a |
ribosomal protein S15a |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 20 |
ClinVar OMIM |
PMID:27909223 |
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NCBI chr 1:172,420,151...172,427,021
Ensembl chr 1:172,419,761...172,426,995
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Heatr3 |
HEAT repeat containing 3 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 21 |
OMIM ClinVar |
PMID:25741868 PMID:35213692 |
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NCBI chr19:18,892,477...18,930,502
Ensembl chr19:18,893,144...18,930,509
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Polr3a |
RNA polymerase III subunit A |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 3 |
ClinVar |
PMID:25741868 |
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NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
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Rps24 |
ribosomal protein S24 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 3 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:17186470 PMID:17576681 PMID:20960466 PMID:23812780 PMID:25741868 PMID:26845104 PMID:27329125 PMID:28492532 PMID:29748317 PMID:30228860 More...
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NCBI chr16:89,538...94,267
Ensembl chr16:89,604...94,279
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Rps17 |
ribosomal protein S17 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diamond-Blackfan anemia 4 |
OMIM CTD ClinVar |
PMID:17647292 PMID:19953637 PMID:23718193 PMID:23812780 PMID:25741868 |
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NCBI chr 1:135,295,920...135,298,506
Ensembl chr 1:135,295,919...135,298,535 Ensembl chr 8:135,295,919...135,298,535
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Iqcg |
IQ motif containing G |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 | ClinVar Annotator: match by term: RPL35A-related condition |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18535205 PMID:22262766 PMID:22689679 PMID:25424902 PMID:25741868 PMID:25946618 PMID:28492532 PMID:32241839 More...
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NCBI chr11:67,730,117...67,771,170
Ensembl chr11:67,730,247...67,771,168
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Rpl35a |
ribosomal protein L35A |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 | ClinVar Annotator: match by term: RPL35A-related condition DNA:deletions, duplication:multiple (human) DNA:deletions, snps:multiple (human) |
OMIM CTD ClinVar RGD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18535205 PMID:22262766 PMID:22689679 PMID:25424902 PMID:25741868 PMID:25946618 PMID:28492532 PMID:32241839 PMID:22689679 PMID:18535205 More...
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RGD:11535072, RGD:11535069 |
NCBI chr11:67,726,031...67,729,953
Ensembl chr11:67,726,032...67,729,942 Ensembl chr 5:67,726,032...67,729,942
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Dipk1a |
divergent protein kinase domain 1A |
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ISO |
ClinVar Annotator: match by term: Aase-Smith syndrome II | ClinVar Annotator: match by term: Diamond-Blackfan anemia 6 |
ClinVar |
PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 PMID:23718193 PMID:23744582 PMID:25741868 PMID:25946618 PMID:28492532 PMID:28694211 PMID:28991257 PMID:30183354 PMID:30503522 More...
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NCBI chr14:1,772,412...1,843,508
Ensembl chr14:1,772,422...1,843,743
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Rpl5 |
ribosomal protein L5 |
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ISO ISS |
OMIM:612561 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aase-Smith syndrome II | ClinVar Annotator: match by term: Diamond-Blackfan anemia 6 DNA:mutations:multiple (human) DNA:snps, deletions, insertions:exons, introns:multiple (human) DNA:snp, insertion, deletion:exons:g.3G>T, g.37_38insT, g.473_474delAA (human) DNA:insertion, nonsense mutation, deletion:cds:c.197_198insA, c.390C>G, c.169-172delAACA (human) DNA:snps, duplication, deletions:exons:multiple (human) |
OMIM MouseDO CTD ClinVar RGD |
PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 PMID:23718193 PMID:23744582 PMID:25741868 PMID:25946618 PMID:28492532 PMID:28694211 PMID:28991257 PMID:30183354 PMID:30503522 PMID:25946618 PMID:19061985 PMID:19773262 PMID:20378560 PMID:25132370 PMID:19191325 More...
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RGD:11535969, RGD:11535967, RGD:11535132, RGD:11535130, RGD:11535128, RGD:11535122 |
NCBI chr14:1,843,856...1,850,301
Ensembl chr14:1,843,770...1,850,290
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Rpl11 |
ribosomal protein L11 |
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ISO ISS |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 7 OMIM:612562 CTD Direct Evidence: marker/mechanism DNA:deletions, snp:exons:c.60_61delCT, c.65delT, c.223C>T (human) DNA:mutations:multiple (human) DNA:deletions:exons:g.58_59delCT, g.460delA (human) DNA:deletions, snp:exons, introns:multiple (human) DNA:missense mutation, nonsense mutation:cds:p.L20H, p.Y119X (human) |
OMIM ClinVar MouseDO CTD RGD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:19773262 PMID:23718193 PMID:25741868 PMID:28492532 PMID:30503522 PMID:26489471 PMID:25946618 PMID:19061985 PMID:20378560 PMID:19773262 PMID:19191325 More...
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RGD:11535971, RGD:11535969, RGD:11535967, RGD:11535130, RGD:11535132, RGD:11535122 |
NCBI chr 5:148,274,060...148,277,708
Ensembl chr 5:148,274,069...148,277,599
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Adi1 |
acireductone dioxygenase 1 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:45,306,885...45,313,847
Ensembl chr 6:45,306,841...45,313,842
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Colec11 |
collectin sub-family member 11 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:45,223,974...45,256,640
Ensembl chr 6:45,223,980...45,271,145
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Rnaseh1 |
ribonuclease H1 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:45,282,849...45,292,258
Ensembl chr 6:45,282,854...45,292,236
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Rps7 |
ribosomal protein S7 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 | ClinVar Annotator: match by term: RPS7-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:17576681 PMID:19061985 PMID:23718193 PMID:25424902 PMID:25741868 PMID:25946618 PMID:27882484 PMID:28102861 PMID:28492532 PMID:36057918 More...
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NCBI chr 6:45,266,200...45,271,064
Ensembl chr 6:45,223,980...45,271,145
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Trappc12 |
trafficking protein particle complex subunit 12 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:45,321,496...45,386,967
Ensembl chr 6:45,321,497...45,386,952
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Rps10 |
ribosomal protein S10 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diamond-Blackfan anemia 9 |
OMIM CTD ClinVar |
PMID:20116044 PMID:23718193 PMID:25741868 PMID:28492532 |
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NCBI chr20:5,694,313...5,698,922
Ensembl chr20:5,694,313...5,699,044 Ensembl chr 6:5,694,313...5,699,044
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Rps10l6 |
ribosomal protein S10-like 6 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 9 |
ClinVar |
PMID:20116044 PMID:23718193 PMID:25741868 PMID:28492532 |
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NCBI chr15:18,308,287...18,309,139
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Epo |
erythropoietin |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia-like |
ClinVar OMIM |
PMID:28283061 |
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NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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G |
Ikzf1 |
IKAROS family zinc finger 1 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia-like |
ClinVar |
PMID:28492532 PMID:29681510 PMID:34162668 |
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NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416
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