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G |
Arpc1b |
actin related protein 2/3 complex, subunit 1B |
treatment |
ISO |
|
RGD |
PMID:22608605 |
RGD:11046272 |
NCBI chr12:9,482,176...9,495,772
Ensembl chr12:9,480,831...9,495,747
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G |
Asxl1 |
ASXL transcriptional regulator 1 |
treatment disease_progression |
ISO |
ClinVar Annotator: match by term: Myelodysplasia | ClinVar Annotator: match by term: Myelodysplastic syndrome CTD Direct Evidence: marker/mechanism DNA:mutations:cds: |
OMIM ClinVar CTD RGD |
PMID:21706002 PMID:22237106 PMID:25741868 PMID:27992414 PMID:24045501 PMID:23099237 PMID:24216483 PMID:21576631 More...
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RGD:11038769, RGD:10450876, RGD:11038712, RGD:11038707 |
NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538
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G |
Atg7 |
autophagy related 7 |
|
ISS |
OMIM:614286 |
MouseDO |
|
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NCBI chr 4:147,718,663...147,925,656
Ensembl chr 4:147,718,752...147,925,593
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G |
Atrx |
ATRX, chromatin remodeler |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19157545 |
|
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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G |
Bap1 |
Brca1 associated protein 1 |
|
ISS |
OMIM:614286 |
MouseDO |
|
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NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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G |
Bcl2l10 |
Bcl2-like 10 |
susceptibility treatment |
ISO |
DNA:SNP:cds:p.Leu21Arg rs2231292)(human) |
RGD |
PMID:24047476 PMID:21760590 |
RGD:11058140, RGD:14392809 |
NCBI chr 8:76,107,326...76,113,373
Ensembl chr 8:76,107,326...76,113,367
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G |
Bmi1 |
BMI1 proto-oncogene, polycomb ring finger |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24571310 |
|
NCBI chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690
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G |
Cd40 |
CD40 molecule |
|
ISO |
protein:increased expression:peripheral blood, monocyte (human) |
RGD |
PMID:17805323 |
RGD:11520793 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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|
G |
Cdkn1b |
cyclin-dependent kinase inhibitor 1B |
|
ISO |
DNA:deletion: : |
RGD |
PMID:9171997 |
RGD:10450601 |
NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
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G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
severity |
ISO |
DNA:hypermethylation: : |
RGD |
PMID:20658957 |
RGD:11251750 |
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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|
G |
Cdkn2b |
cyclin-dependent kinase inhibitor 2B |
disease_progression treatment |
ISO |
DNA:altered methylation: : CTD Direct Evidence: marker/mechanism DNA:hypermethylation: : DNA:altered methylation:promoter: |
CTD RGD |
PMID:17294728 PMID:20658957 PMID:23683424 PMID:17611569 |
RGD:11251750, RGD:11252195, RGD:11252169 |
NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
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G |
Cflar |
CASP8 and FADD-like apoptosis regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16105982 PMID:14562111 |
RGD:11341680 |
NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034
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G |
Crebbp |
CREB binding protein |
|
ISS |
OMIM:614286 |
MouseDO |
|
|
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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|
G |
Csf3r |
colony stimulating factor 3 receptor |
disease_progression |
ISO |
DNA:SNP:cds:p.E785K(human) Protein:decreased expression:CD34++ cell: |
RGD |
PMID:15644419 PMID:12670333 |
RGD:10450471, RGD:10450504 |
NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881
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G |
Ctnna1 |
catenin alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
|
NCBI chr18:26,728,246...26,860,911
Ensembl chr18:26,728,485...26,860,910
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G |
Dapk1 |
death associated protein kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19874806 |
|
NCBI chr17:3,930,223...4,090,991
Ensembl chr17:3,930,213...4,090,991
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G |
Ddx41 |
DEAD-box helicase 41 |
|
ISO |
ClinVar Annotator: match by term: Myelodysplasia |
ClinVar |
PMID:25741868 PMID:26712909 PMID:27133828 PMID:28547672 PMID:30963592 PMID:31484648 PMID:32098966 PMID:33585199 More...
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NCBI chr17:9,102,926...9,108,415
Ensembl chr17:9,103,010...9,108,415
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G |
Ddx42 |
DEAD-box helicase 42 |
|
ISO |
mRNA:decreased expression:bone marrow mononuclear cell (human) |
RGD |
PMID:16211284 |
RGD:9850279 |
NCBI chr10:91,148,926...91,180,940
Ensembl chr10:91,148,254...91,180,939
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G |
Dlk1 |
delta like non-canonical Notch ligand 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18575777 |
|
NCBI chr 6:128,410,216...128,417,518
Ensembl chr 6:128,410,316...128,417,522
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G |
Dnmt1 |
DNA methyltransferase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32431489 |
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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 |
Dnmt3a |
DNA methyltransferase 3 alpha |
disease_progression |
ISO |
DNA:mutations:cds: ClinVar Annotator: match by term: Myelodysplastic syndrome | ClinVar Annotator: match by term: Myelodysplastic syndromes CTD Direct Evidence: marker/mechanism DNA:missense mutation:exon:p.R882 (human) |
ClinVar CTD RGD |
PMID:21067377 PMID:21518476 PMID:22160010 PMID:22722925 PMID:22744846 PMID:22898539 PMID:22898541 PMID:24606448 PMID:24622842 PMID:24656771 PMID:25741868 PMID:26619011 PMID:26876596 PMID:27991732 PMID:28166811 PMID:28432085 PMID:28492532 PMID:28941052 PMID:32431489 PMID:21415852 PMID:22066015 More...
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RGD:11041122, RGD:11041124 |
NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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G |
Dnmt3b |
DNA methyltransferase 3 beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32431489 |
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NCBI chr 3:142,130,592...142,169,124
Ensembl chr 3:142,130,592...142,169,124
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G |
Egr1 |
early growth response 1 |
|
ISS |
OMIM:614286 |
MouseDO |
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NCBI chr18:26,463,333...26,465,531
Ensembl chr18:26,462,981...26,466,766
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G |
Epo |
erythropoietin |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:12670338 PMID:16076383 |
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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 |
Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
disease_progression |
ISO |
DNA:SNP: :p.K751Q (rs13181) (human) |
RGD |
PMID:25154760 PMID:26482462 |
RGD:11252197, RGD:11075607 |
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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G |
Etv6 |
ETS variant transcription factor 6 |
|
ISO |
DNA:translocation: : DNA:deletion: : |
RGD |
PMID:12203785 PMID:18476590 PMID:9171997 |
RGD:1581019, RGD:10450605, RGD:10450601 |
NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992
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G |
Ezh2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
severity |
ISO |
DNA:mutations:multiple (human) CTD Direct Evidence: marker/mechanism mRNA:increased expression:bone marrow, mononuclear cell (human) |
CTD RGD |
PMID:20601954 PMID:22869879 PMID:21125401 |
RGD:10450880, RGD:10450887 |
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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G |
Fas |
Fas cell surface death receptor |
|
ISO |
mRNA,protein:increased expression:bone marrow: protein:increased expression:peripheral blood mononuclear cell: |
RGD |
PMID:9557605 PMID:15686130 |
RGD:11049447, RGD:11049448 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Faslg |
Fas ligand |
|
ISO |
mRNA,protein:increased expression:bone marrow: protein:decreased expression:peripheral blood mononuclear cell: |
RGD |
PMID:9557605 PMID:15686130 |
RGD:11049447, RGD:11049448 |
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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G |
Fcgr3a |
Fc gamma receptor 3A |
|
ISO |
|
RGD |
PMID:24264604 |
RGD:11352253 |
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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G |
Flt3 |
Fms related receptor tyrosine kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Myelodysplastic syndrome progressed to acute myeloid leukemia |
ClinVar |
PMID:22417203 |
|
NCBI chr12:7,623,658...7,699,474
Ensembl chr12:7,623,930...7,699,474
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G |
Gata1 |
GATA binding protein 1 |
severity disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism mRNA:increased expression:bone marrow |
CTD RGD |
PMID:28963909 PMID:15572684 PMID:12145700 PMID:17570514 |
RGD:10450734, RGD:10450753, RGD:10450752 |
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
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G |
Gata2 |
GATA binding protein 2 |
severity |
ISO |
ClinVar Annotator: match by term: Myelodysplastic syndrome | ClinVar Annotator: match by term: Myelodysplastic syndromes CTD Direct Evidence: marker/mechanism mRNA:increased expression:bone marrow: |
OMIM ClinVar CTD RGD |
PMID:4508672 PMID:20040766 PMID:21242295 PMID:21670465 PMID:21765025 PMID:21810969 PMID:21892158 PMID:21892162 PMID:22147895 PMID:22271902 PMID:22533337 PMID:23365458 PMID:23502222 PMID:24077845 PMID:24227816 PMID:24345756 PMID:25359990 PMID:25676417 PMID:25741868 PMID:26492932 PMID:27288520 PMID:27577878 PMID:27992414 PMID:28166811 PMID:28492532 PMID:28747912 PMID:28947108 PMID:29588856 PMID:30578959 PMID:31035956 PMID:31340620 PMID:31350183 PMID:33510405 PMID:12145700 More...
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RGD:10450753 |
NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761
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G |
Gfi1 |
growth factor independent 1 transcriptional repressor |
|
ISO |
mRNA:decreased expression:bone marrow: |
RGD |
PMID:18371060 |
RGD:11040459 |
NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814
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G |
Gnb1 |
G protein subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Myelodysplastic syndrome |
OMIM ClinVar |
PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:28492532 PMID:30194818 PMID:31735425 PMID:32134617 PMID:32963807 More...
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NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
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G |
Gstm1 |
glutathione S-transferase mu 1 |
susceptibility treatment |
ISO |
|
RGD |
PMID:16620556 PMID:15595630 |
RGD:10450800, RGD:10450836 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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G |
Gstp1 |
glutathione S-transferase pi 1 |
susceptibility |
ISO |
DNA:missense mutation:cds:313A>G (p.I105V)(human) |
RGD |
PMID:23278642 |
RGD:10755416 |
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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|
G |
Gstt1 |
glutathione S-transferase theta 1 |
disease_progression no_association |
ISO |
|
RGD |
PMID:8569364 PMID:23859717 PMID:9164324 |
RGD:10450772, RGD:10450840, RGD:10450779 |
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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G |
Hdac1 |
histone deacetylase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28963909 |
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NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
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G |
Hfe |
homeostatic iron regulator |
|
ISO |
DNA:missense mutations:cds:p.H63D, p.C282Y (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17001480 PMID:12624489 |
RGD:10755559 |
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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G |
Hras |
HRas proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Myelodysplastic syndromes |
ClinVar |
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17979197 PMID:18039947 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759 PMID:34008892 More...
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NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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G |
Idh1 |
isocitrate dehydrogenase (NADP(+)) 1 |
disease_progression |
ISO |
DNA:mutation: : ClinVar Annotator: match by term: Myelodysplastic syndromes |
ClinVar RGD |
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 PMID:24936872 More...
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RGD:11522722 |
NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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G |
Idh2 |
isocitrate dehydrogenase (NADP(+)) 2 |
|
ISO |
ClinVar Annotator: match by term: Myelodysplastic syndromes |
ClinVar |
PMID:20171147 PMID:20847235 PMID:20946881 PMID:21250968 PMID:21596855 PMID:21889589 PMID:21997850 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22616558 PMID:22898539 PMID:23558173 PMID:23815907 PMID:23949315 PMID:24049096 PMID:24606448 PMID:25157968 PMID:25326635 PMID:25398939 PMID:25741868 PMID:26619011 PMID:28166811 PMID:28492532 More...
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NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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G |
Il1b |
interleukin 1 beta |
|
ISO |
mRNA:increased expression:bone marrow |
RGD |
PMID:10697556 |
RGD:10450881 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Itgb3 |
integrin subunit beta 3 |
|
ISO |
|
RGD |
PMID:16121636 |
RGD:10755468 |
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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G |
Kmt2e |
lysine methyltransferase 2E |
|
ISO |
|
RGD |
PMID:18952892 |
RGD:9588548 |
NCBI chr 4:11,657,811...11,727,373
Ensembl chr 4:11,658,979...11,727,373
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G |
Kras |
KRAS proto-oncogene, GTPase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27992414 |
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NCBI chr 4:178,185,418...178,218,484
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G |
Lgr6 |
leucine-rich repeat-containing G protein-coupled receptor 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32215045 |
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NCBI chr13:46,424,382...46,544,074
Ensembl chr13:46,424,383...46,543,945
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G |
Lrrc56 |
leucine rich repeat containing 56 |
|
ISO |
ClinVar Annotator: match by term: Myelodysplastic syndromes |
ClinVar |
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17979197 PMID:18039947 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759 PMID:34008892 More...
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NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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G |
Lyl1 |
LYL1, basic helix-loop-helix family member |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16094422 |
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NCBI chr19:23,452,140...23,455,007
Ensembl chr19:23,452,140...23,455,007
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G |
Macroh2a1 |
macroH2A.1 histone |
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ISS |
OMIM:614286 |
MouseDO |
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NCBI chr17:8,479,331...8,542,071
Ensembl chr17:8,479,372...8,542,072
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G |
Mdm2 |
MDM2 proto-oncogene |
no_association |
ISO |
DNA:SNP:cds:309T>G(rs2279744)(human) |
RGD |
PMID:22668018 |
RGD:11073731 |
NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
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G |
Mefv |
MEFV innate immuity regulator, pyrin |
susceptibility |
ISO |
DNA:polymorphisms:cds:p.M694V,E148Q(human) |
RGD |
PMID:22351163 |
RGD:11531114 |
NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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G |
Mtrr |
5-methyltetrahydrofolate-homocysteine methyltransferase reductase |
susceptibility |
ISO |
DNA:polymorphism: :66A>G(human) |
RGD |
PMID:18774170 |
RGD:11075096 |
NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
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G |
Mybl2 |
MYB proto-oncogene like 2 |
|
ISS |
OMIM:614286 |
MouseDO |
|
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NCBI chr 3:151,705,254...151,733,714
Ensembl chr 3:151,705,288...151,733,708
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G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10914558 |
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NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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G |
Npm1 |
nucleophosmin 1 |
|
ISS ISO |
OMIM:614286 ClinVar Annotator: match by term: Myelodysplastic syndrome progressed to acute myeloid leukemia |
MouseDO ClinVar |
PMID:15659725 PMID:20026798 PMID:32581362 |
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NCBI chr10:17,741,512...17,751,626
Ensembl chr10:17,739,941...17,751,645
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G |
Nqo1 |
NAD(P)H quinone dehydrogenase 1 |
no_association |
ISO |
DNA:missense mutation:cds:609C>T (p.P187S) (human) |
RGD |
PMID:23643325 |
RGD:10769356 |
NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
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G |
Nras |
NRAS proto-oncogene, GTPase |
disease_progression |
ISO |
ClinVar Annotator: match by term: Myelodysplastic syndromes |
ClinVar RGD |
PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:3122217 PMID:8120410 PMID:10598665 PMID:12460918 PMID:14982869 PMID:15046639 PMID:15831708 PMID:15951308 PMID:16273091 PMID:16291983 PMID:16434492 PMID:16518851 PMID:17332249 PMID:17384584 PMID:17517660 PMID:17699718 PMID:18375819 PMID:18390968 PMID:18633438 PMID:18794081 PMID:18948947 PMID:18952898 PMID:19047918 PMID:19075190 PMID:19657110 PMID:19775298 PMID:19966803 PMID:20130576 PMID:20179705 PMID:20619739 PMID:20736745 PMID:21079152 PMID:21263000 PMID:21305640 PMID:21729679 PMID:21829508 PMID:22144181 PMID:22407852 PMID:22499344 PMID:22962325 PMID:23134356 PMID:23334668 PMID:23414587 PMID:23431193 PMID:23515407 PMID:23614898 PMID:24033266 PMID:24284627 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 PMID:28098151 PMID:28492532 PMID:28594414 PMID:30417923 PMID:32888943 PMID:23708912 More...
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RGD:11535060 |
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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G |
Plcb1 |
phospholipase C beta 1 |
severity treatment |
ISO |
mRNA:decreased expression:bone marrow, blood, mononuclear cell (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:19805378 PMID:16820933 PMID:21109771 |
RGD:11535164, RGD:11535956 |
NCBI chr 3:122,059,968...122,772,896
Ensembl chr 3:122,060,031...122,772,869
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G |
Pmepa1 |
prostate transmembrane protein, androgen induced 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32215045 |
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NCBI chr 3:162,011,884...162,060,137
Ensembl chr 3:162,012,751...162,060,454
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
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ISS |
OMIM:614286 |
MouseDO |
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NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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G |
Prame |
PRAME nuclear receptor transcriptional regulator |
|
ISO |
mRNA:increased expression:bone marrow, blood (human) |
RGD |
PMID:24763007 |
RGD:11535028 |
NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
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G |
Rap1gap |
Rap1 GTPase-activating protein |
|
ISO |
mRNA:increased expression:bone marrow, mononuclear cells (human) |
RGD |
PMID:18551404 |
RGD:9835346 |
NCBI chr 5:149,873,987...149,939,254
Ensembl chr 5:149,892,019...149,939,253
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G |
Runx1 |
RUNX family transcription factor 1 |
disease_progression |
ISO |
DNA:missense mutations, nonsense mutation, frameshift mutations: :multiple ClinVar Annotator: match by term: Myelodysplasia CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:18723428 PMID:25741868 PMID:27992414 PMID:17910630 |
RGD:11251705 |
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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G |
Samd9 |
sterile alpha motif domain containing 9 |
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ISO ISS |
CTD Direct Evidence: marker/mechanism OMIM:614286 |
CTD MouseDO |
PMID:27182967 |
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NCBI chr 4:31,164,639...31,184,325
Ensembl chr 4:31,164,510...31,184,322
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G |
Sf3b1 |
splicing factor 3b, subunit 1 |
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ISO |
ClinVar Annotator: match by term: Myelodysplastic syndrome progressed to acute myeloid leukemia |
OMIM ClinVar |
PMID:21909114 PMID:21995386 PMID:23395771 |
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NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300
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G |
Sf3b2 |
splicing factor 3b, subunit 2 |
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ISO |
ClinVar Annotator: match by term: Myelodysplastic syndrome |
ClinVar |
PMID:26619011 |
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NCBI chr 1:202,570,423...202,590,774
Ensembl chr 1:202,570,423...202,590,759
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G |
Slc22a5 |
solute carrier family 22 member 5 |
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ISO |
mRNA:decreased expression:PBMCs (human) |
RGD |
PMID:12802501 |
RGD:1580610 |
NCBI chr10:38,008,303...38,035,474
Ensembl chr10:38,008,311...38,035,309
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G |
Smpd3 |
sphingomyelin phosphodiesterase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18283525 |
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NCBI chr19:34,162,337...34,245,786
Ensembl chr19:34,162,341...34,245,749
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G |
Sphk1 |
sphingosine kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18283525 |
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NCBI chr10:101,758,567...101,764,240
Ensembl chr10:101,758,711...101,764,240
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G |
Srsf11 |
serine and arginine rich splicing factor 11 |
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ISO |
mRNA:splice variant:bone marrow, hematopoietic stem cell (human) |
RGD |
PMID:24244432 |
RGD:11038800 |
NCBI chr 2:247,074,623...247,101,460
Ensembl chr 2:247,074,631...247,101,425
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G |
Srsf2 |
serine and arginine rich splicing factor 2 |
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ISO ISS |
DNA:missense mutations:cds:multiple (human) OMIM:614286 |
MouseDO RGD |
PMID:23280334 |
RGD:11039052 |
NCBI chr10:102,052,158...102,055,365
Ensembl chr10:102,052,314...102,055,338
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G |
Stag2 |
stromal antigen 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27992414 |
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NCBI chr X:120,974,687...121,105,677
Ensembl chr X:120,974,857...121,105,677
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G |
Tert |
telomerase reverse transcriptase |
severity |
ISO |
mRNA:splice variants:cds ClinVar Annotator: match by term: Myelodysplasia |
ClinVar RGD |
PMID:25741868 PMID:28492532 PMID:29463756 PMID:33718801 PMID:24844605 PMID:19270495 More...
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RGD:11038659, RGD:11038661 |
NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
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G |
Tet2 |
tet methylcytosine dioxygenase 2 |
severity |
ISO |
ClinVar Annotator: match by term: Myelodysplastic syndrome CTD Direct Evidence: marker/mechanism DNA:mutations:multiple DNA:missense mutations, nonsense mutations, splice-site mutation:multiple |
OMIM ClinVar CTD RGD |
PMID:19483684 PMID:25741868 PMID:27992414 PMID:23099237 PMID:20693430 |
RGD:10450876, RGD:11038679 |
NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
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G |
Tlr2 |
toll-like receptor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28963909 |
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NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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G |
Tnf |
tumor necrosis factor |
disease_progression |
ISO |
protein:increased expression:serum mRNA:increased expression:bone marrow |
RGD |
PMID:15888251 PMID:10697556 |
RGD:10450530, RGD:10450881 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Tp53 |
tumor protein p53 |
disease_progression treatment no_association |
ISO |
DNA:mutation: : ClinVar Annotator: match by term: Myelodysplastic syndromes CTD Direct Evidence: marker/mechanism DNA:mutations: : DNA:SNP:cds: p.R72P(rs1042522)(human) |
ClinVar CTD RGD |
PMID:1359493 PMID:1565143 PMID:1631137 PMID:1683921 PMID:1978757 PMID:2046748 PMID:7887414 PMID:8062826 PMID:8099841 PMID:8425176 PMID:8527048 PMID:9242456 PMID:9290701 PMID:9546439 PMID:9569050 PMID:9598730 PMID:9825943 PMID:10411893 PMID:10797439 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11479205 PMID:11782540 PMID:11793474 PMID:11920959 PMID:12826609 PMID:15004724 PMID:15381368 PMID:15722483 PMID:15825182 PMID:16489069 PMID:16682957 PMID:16818505 PMID:16861262 PMID:17417627 PMID:17427234 PMID:17606709 PMID:18511570 PMID:19378321 PMID:19556618 PMID:20013323 PMID:20113312 PMID:20128691 PMID:20407015 PMID:20522432 PMID:21187651 PMID:21305319 PMID:21343334 PMID:21519010 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22110706 PMID:22186996 PMID:22265402 PMID:22713868 PMID:22915647 PMID:22919068 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23538418 PMID:23667202 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24810334 PMID:25157968 PMID:25525159 PMID:25584008 PMID:25741868 PMID:25925845 PMID:25952993 PMID:26230955 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26787237 PMID:26822237 PMID:26845104 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27680515 PMID:27683180 PMID:27895058 PMID:27959731 PMID:27992414 PMID:28152038 PMID:28369373 PMID:28472496 PMID:28492532 PMID:28724667 PMID:29025599 PMID:29478780 PMID:29489754 PMID:29752822 PMID:30076369 PMID:30327374 PMID:30816478 PMID:31775759 PMID:32000721 PMID:24836762 PMID:25412846 PMID:25573287 PMID:22668018 PMID:24043769 More...
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RGD:11073714, RGD:11057925, RGD:11075071, RGD:11073731, RGD:11073729 |
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
U2af1 |
U2 small nuclear RNA auxiliary factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Myelodysplastic syndrome |
CTD ClinVar |
PMID:22158538 PMID:23029227 PMID:23861105 PMID:24498085 PMID:26619011 |
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NCBI chr20:9,742,904...9,753,840
Ensembl chr20:9,742,905...9,753,832
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G |
Xrcc1 |
X-ray repair cross complementing 1 |
no_association |
ISO |
DNA:SNP: :p.R280H (human) DNA:SNP: :p.R194W, p.R399Q (human) |
RGD |
PMID:26482462 PMID:26482462 |
RGD:11075607, RGD:11075607 |
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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G |
Zfpm2 |
zinc finger protein, multitype 2 |
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ISO |
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RGD |
PMID:15705784 |
RGD:1580640 |
NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205
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G |
Zrsr2 |
zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 |
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ISO |
CTD Direct Evidence: marker/mechanism DNA:missense mutations:multiple (human) DNA:missense mutation:multiple (human) |
CTD RGD |
PMID:27992414 PMID:28220884 PMID:22343920 PMID:28942350 PMID:25586593 |
RGD:151347177, RGD:151232292, RGD:151232291, RGD:151232290 |
NCBI chr X:30,547,424...30,571,613
Ensembl chr X:30,547,536...30,570,125
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G |
Atrx |
ATRX, chromatin remodeler |
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ISO |
ClinVar Annotator: match by term: Acquired hemoglobin H disease | ClinVar Annotator: match by term: Alpha-thalassemia myelodysplasia syndrome |
OMIM ClinVar |
PMID:9326931 PMID:10995512 PMID:12858175 PMID:16955409 PMID:20500465 PMID:24327140 PMID:25590979 PMID:25741868 PMID:28492532 PMID:31130284 More...
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NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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G |
Aldh2 |
aldehyde dehydrogenase 2 family member |
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ISO |
ClinVar Annotator: match by term: BONE MARROW FAILURE SYNDROME 7, DIGENIC |
ClinVar |
PMID:2987944 PMID:4065146 PMID:6650498 PMID:7180842 PMID:7593603 PMID:8903321 PMID:10627091 PMID:10780266 PMID:15654505 PMID:15902904 PMID:16046871 PMID:16440063 PMID:16679777 PMID:17885622 PMID:18056758 PMID:20010786 PMID:22992668 PMID:33355142 More...
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NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521
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G |
Hspa9 |
heat shock protein family A (Hsp70) member 9 |
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ISO |
ClinVar Annotator: match by term: Anemia, sideroblastic, 4 |
OMIM ClinVar |
PMID:3653362 PMID:20817635 PMID:25741868 PMID:26491070 |
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NCBI chr18:26,536,131...26,554,294
Ensembl chr18:26,535,798...26,554,292
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G |
Glrx5 |
glutaredoxin 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 6:123,988,169...123,998,545
Ensembl chr 6:123,988,134...123,998,545
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G |
Slc25a38 |
solute carrier family 25, member 38 |
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ISO |
ClinVar Annotator: match by term: Anemia, sideroblastic, 2, pyridoxine-refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive | ClinVar Annotator: match by term: Sideroblastic anemia pyridoxine-refractory autosomal recessive |
OMIM ClinVar |
PMID:19412178 PMID:21393332 PMID:24323989 PMID:25326635 PMID:25512395 PMID:25741868 PMID:25985931 PMID:26636621 PMID:28492532 PMID:28772256 PMID:29499877 PMID:29786897 PMID:30735661 PMID:31338833 PMID:31642437 PMID:32605921 PMID:32790119 PMID:33256393 More...
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NCBI chr 8:119,835,546...119,848,334
Ensembl chr 8:119,835,634...119,848,332
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G |
Glrx5 |
glutaredoxin 5 |
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ISO |
ClinVar Annotator: match by term: Sideroblastic anemia 3 |
OMIM ClinVar |
PMID:17485548 PMID:20364084 PMID:25342667 PMID:25741868 PMID:26100117 PMID:30660387 More...
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NCBI chr 6:123,988,169...123,998,545
Ensembl chr 6:123,988,134...123,998,545
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G |
Arsa |
arylsulfatase A |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive sideroblastic anemia |
ClinVar |
PMID:25741868 |
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NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783
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G |
Srp72 |
signal recognition particle 72 |
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ISO |
ClinVar Annotator: match by term: Bone marrow failure syndrome 1 |
OMIM ClinVar |
PMID:22541560 PMID:25741868 PMID:28492532 |
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NCBI chr14:31,168,175...31,195,717
Ensembl chr14:31,168,293...31,195,729
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G |
Tbxas1 |
thromboxane A synthase 1 |
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ISO |
ClinVar Annotator: match by term: Ghosal hematodiaphyseal dysplasia | ClinVar Annotator: match by term: Ghosal hematodiaphyseal syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8702713 PMID:17203301 PMID:18264100 PMID:25741868 PMID:27156553 PMID:28492532 PMID:33185009 More...
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NCBI chr 4:67,664,963...67,837,096
Ensembl chr 4:67,665,007...67,837,096
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G |
Lars2 |
leucyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia |
OMIM ClinVar |
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 PMID:28492532 PMID:30737337 PMID:32442335 PMID:32747562 More...
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NCBI chr 8:123,010,271...123,108,957
Ensembl chr 8:123,010,293...123,106,395
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G |
Slc11a2 |
solute carrier family 11 member 2 |
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ISO |
|
OMIM |
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NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145
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G |
Samd9l |
sterile alpha motif domain containing 9-like |
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ISO |
ClinVar Annotator: match by term: Monosomy 7 myelodysplasia and leukemia syndrome 1 |
OMIM ClinVar |
PMID:2569483 PMID:25741868 PMID:27259050 PMID:28202457 PMID:28492532 PMID:28570036 PMID:29146883 PMID:30046003 PMID:33884299 More...
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NCBI chr 4:31,362,054...31,376,412
Ensembl chr 4:31,361,669...31,376,415
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G |
Samd9 |
sterile alpha motif domain containing 9 |
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ISO |
ClinVar Annotator: match by term: Monosomy 7 myelodysplasia and leukemia syndrome 2 |
OMIM ClinVar |
PMID:2569483 PMID:28487541 PMID:30046003 |
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NCBI chr 4:31,164,639...31,184,325
Ensembl chr 4:31,164,510...31,184,322
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G |
Dnm1l |
dynamin 1-like |
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ISO |
ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
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G |
Pus1 |
pseudouridine synthase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia |
CTD ClinVar |
PMID:28492532 |
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NCBI chr12:45,880,364...45,889,196
Ensembl chr12:45,880,440...45,889,196
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G |
Yars2 |
tyrosyl-tRNA synthetase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia |
CTD ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:84,632,350...84,638,138
Ensembl chr11:84,624,369...84,638,125
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G |
Pus1 |
pseudouridine synthase 1 |
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ISO |
ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 1 |
OMIM ClinVar |
PMID:7726239 PMID:14981724 PMID:15108122 PMID:15971356 PMID:17056637 PMID:23707380 PMID:25227147 PMID:25741868 PMID:28492532 More...
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NCBI chr12:45,880,364...45,889,196
Ensembl chr12:45,880,440...45,889,196
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G |
Dnm1l |
dynamin 1-like |
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ISO |
ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 |
ClinVar |
PMID:28492532 |
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NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
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G |
Yars2 |
tyrosyl-tRNA synthetase 2 |
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ISO |
ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 |
OMIM ClinVar |
PMID:12075011 PMID:20598274 PMID:22504945 PMID:23918765 PMID:24088041 PMID:24344687 PMID:24430573 PMID:25741868 PMID:26633545 PMID:28492532 PMID:30026338 More...
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NCBI chr11:84,632,350...84,638,138
Ensembl chr11:84,624,369...84,638,125
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G |
Mt-atp6 |
mitochondrially encoded ATP synthase membrane subunit 6 |
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ISO |
ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 3 |
ClinVar |
PMID:25037980 PMID:27812026 PMID:29350304 |
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NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
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G |
C3 |
complement C3 |
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ISO |
protein:increased processing:erythrocyte |
RGD |
PMID:6915939 |
RGD:11040769 |
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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G |
C5 |
complement C5 |
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ISO |
ClinVar Annotator: match by term: Eculizumab, poor response to |
OMIM ClinVar |
PMID:24521109 PMID:28492532 |
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NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994
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G |
Cxcr4 |
C-X-C motif chemokine receptor 4 |
treatment |
ISO |
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RGD |
PMID:22206707 |
RGD:11352266 |
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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G |
Piga |
phosphatidylinositol glycan anchor biosynthesis, class A |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria | ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1 CTD Direct Evidence: marker/mechanism associated with Anemia, Aplastic;DNA:deletion:exon:del662_666GTACT (human) |
OMIM ClinVar CTD RGD |
PMID:8167330 PMID:8500164 PMID:8541558 PMID:8557259 PMID:9019395 PMID:9233558 PMID:9787183 PMID:10220445 PMID:15720958 PMID:16767100 PMID:25741868 PMID:28492532 PMID:34355501 PMID:12424196 More...
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RGD:11087560 |
NCBI chr X:30,043,033...30,055,861
Ensembl chr X:30,042,343...30,055,804
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G |
Pigt |
phosphatidylinositol glycan anchor biosynthesis, class T |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1 |
CTD ClinVar |
PMID:25417052 PMID:25741868 |
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NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887
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G |
RT1-Ba |
RT1 class II, locus Ba |
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ISO |
DNA:polymorphism, haplotype |
RGD |
PMID:12070003 |
RGD:11041765 |
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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G |
RT1-Bb |
RT1 class II, locus Bb |
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ISO |
DNA:polymorphism, haplotype |
RGD |
PMID:12070003 |
RGD:11041765 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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G |
Pigt |
phosphatidylinositol glycan anchor biosynthesis, class T |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 2 |
OMIM ClinVar |
PMID:23733340 PMID:25741868 PMID:28492532 |
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NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887
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G |
Abtb1 |
ankyrin repeat and BTB domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
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NCBI chr 4:121,299,302...121,305,667
Ensembl chr 4:121,299,304...121,305,620
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G |
Acad11 |
acyl-CoA dehydrogenase family, member 11 |
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ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:22147895 PMID:25741868 |
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NCBI chr 8:104,681,346...104,746,559
Ensembl chr 8:104,681,396...104,746,560
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G |
Acad9 |
acyl-CoA dehydrogenase family, member 9 |
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ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 PMID:28492532 More...
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NCBI chr 2:118,943,170...118,966,150
Ensembl chr 2:118,943,174...118,966,547
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G |
Ackr4 |
atypical chemokine receptor 4 |
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ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:22147895 PMID:25741868 |
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NCBI chr 8:104,716,537...104,720,972
Ensembl chr 8:104,716,067...104,723,617
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G |
Acp3 |
acid phosphatase 3 |
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ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:22147895 PMID:25741868 |
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NCBI chr 8:104,905,570...104,956,146
Ensembl chr 8:104,905,586...104,954,236
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G |
Adcy5 |
adenylate cyclase 5 |
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ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
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NCBI chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974
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G |
Aldh1l1 |
aldehyde dehydrogenase 1 family, member L1 |
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ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
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NCBI chr 4:123,059,989...123,106,471
Ensembl chr 4:123,060,008...123,106,465
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G |
Amotl2 |
angiomotin like 2 |
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ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:22147895 PMID:25741868 |
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NCBI chr 8:103,303,368...103,319,161
Ensembl chr 8:103,302,992...103,318,910
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G |
Anapc13 |
anaphase promoting complex subunit 13 |
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ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:22147895 PMID:25741868 |
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NCBI chr 8:103,205,520...103,213,936
Ensembl chr 8:103,205,520...103,213,936
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G |
Aste1 |
asteroid homolog 1 |
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ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:22147895 PMID:25741868 |
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NCBI chr 8:106,026,570...106,044,694
Ensembl chr 8:106,026,515...106,044,430
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G |
Atp2c1 |
ATPase secretory pathway Ca2+ transporting 1 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:22147895 PMID:25741868 |
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NCBI chr 8:106,034,777...106,155,854
Ensembl chr 8:106,034,636...106,156,006
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G |
Bfsp2 |
beaded filament structural protein 2 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:22147895 PMID:25741868 |
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NCBI chr 8:104,006,226...104,063,399
Ensembl chr 8:104,006,226...104,063,399
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G |
Casr |
calcium-sensing receptor |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 |
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NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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G |
Ccdc14 |
coiled-coil domain containing 14 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
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NCBI chr11:66,052,063...66,087,915
Ensembl chr11:66,052,620...66,087,956
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G |
Cd86 |
CD86 molecule |
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ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 |
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NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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G |
Cdv3 |
CDV3 homolog |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:22147895 PMID:25741868 |
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NCBI chr 8:103,934,006...103,947,173
Ensembl chr 8:103,933,996...103,947,192
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G |
Cep63 |
centrosomal protein 63 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:22147895 PMID:25741868 |
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NCBI chr 8:103,162,639...103,214,177
Ensembl chr 8:103,162,700...103,214,177
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G |
Cfap100 |
cilia and flagella associated protein 100 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
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NCBI chr 4:122,914,693...122,938,994
Ensembl chr 4:122,914,698...122,938,580
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G |
Cfap92 |
cilia and flagella associated protein 92 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
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NCBI chr 4:120,126,565...120,181,575
Ensembl chr 4:120,126,567...120,181,546
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G |
Chchd6 |
coiled-coil-helix-coiled-coil-helix domain containing 6 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
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NCBI chr 4:121,803,501...122,024,209
Ensembl chr 4:121,792,717...122,024,216
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G |
Chst13 |
carbohydrate sulfotransferase 13 |
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ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
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NCBI chr 4:122,824,712...122,837,935
Ensembl chr 4:122,824,022...122,838,019
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G |
Cnbp |
CCHC-type zinc finger, nucleic acid binding protein |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
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NCBI chr 4:120,302,768...120,311,694
Ensembl chr 4:120,302,771...120,311,637
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G |
Col6a5 |
collagen type VI alpha 5 chain |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:22147895 PMID:25741868 |
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NCBI chr 8:106,483,806...106,584,114
Ensembl chr 8:106,483,799...106,584,113
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G |
Col6a6 |
collagen type VI alpha 6 chain |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:22147895 PMID:25741868 |
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NCBI chr 8:106,318,010...106,473,419
Ensembl chr 8:106,306,422...106,473,472
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G |
Copg1 |
COPI coat complex subunit gamma 1 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
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NCBI chr 4:120,366,540...120,392,502
Ensembl chr 4:120,366,542...120,415,616
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G |
Cpne4 |
copine 4 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:22147895 PMID:25741868 |
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NCBI chr 8:105,177,376...105,653,075
Ensembl chr 8:105,177,376...105,653,068
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G |
Csta |
cystatin A |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 |
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NCBI chr11:64,620,483...64,631,488
Ensembl chr11:64,620,483...64,631,488
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G |
Dnajb8 |
DnaJ heat shock protein family (Hsp40) member B8 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia |
ClinVar |
PMID:2322343 PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 PMID:29146883 PMID:29724903 PMID:31710708 More...
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NCBI chr 4:120,681,918...120,685,108
Ensembl chr 4:120,681,926...120,687,552
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G |
Dnajc13 |
DnaJ heat shock protein family (Hsp40) member C13 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:22147895 PMID:25741868 |
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NCBI chr 8:104,767,785...104,877,317
Ensembl chr 8:104,767,788...104,877,317
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G |
Dtx3l |
deltex E3 ubiquitin ligase 3L |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 |
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NCBI chr11:64,814,926...64,824,538
Ensembl chr11:64,814,926...64,824,538
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G |
Eaf2 |
ELL associated factor 2 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 |
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NCBI chr11:63,960,200...64,004,610
Ensembl chr11:63,960,200...64,004,610
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G |
Eefsec |
eukaryotic elongation factor, selenocysteine-tRNA-specific |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 PMID:31710708 More...
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NCBI chr 4:120,719,616...120,915,801
Ensembl chr 4:120,707,133...120,915,779
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G |
Efcab12 |
EF-hand calcium binding domain 12 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
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NCBI chr 4:148,869,381...148,892,922
Ensembl chr 4:148,869,387...148,890,560
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G |
Efcc1 |
EF-hand and coiled-coil domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
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NCBI chr 4:120,188,202...120,223,464
Ensembl chr 4:120,188,470...120,217,516
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G |
Ephb1 |
Eph receptor B1 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:22147895 PMID:25741868 |
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NCBI chr 8:102,507,549...102,944,839
Ensembl chr 8:102,507,549...102,944,839
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G |
Fam162a |
family with sequence similarity 162, member A |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 |
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NCBI chr11:64,680,937...64,711,239
Ensembl chr11:64,680,323...64,711,239
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G |
Fbxo40 |
F-box protein 40 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 |
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NCBI chr11:63,794,452...63,812,697
Ensembl chr11:63,794,624...63,812,697
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G |
Fstl1 |
follistatin-like 1 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 |
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NCBI chr11:62,895,391...62,948,581
Ensembl chr11:62,779,783...62,948,677
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G |
Gata2 |
GATA binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia |
OMIM ClinVar |
PMID:453969 PMID:2322343 PMID:2543925 PMID:4508672 PMID:8701948 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19449416 PMID:20040766 PMID:20803646 PMID:21242295 PMID:21670465 PMID:21765025 PMID:21810969 PMID:21816832 PMID:21892158 PMID:21892162 PMID:21956389 PMID:22147895 PMID:22271902 PMID:22430350 PMID:22533337 PMID:22996659 PMID:23223431 PMID:23365458 PMID:23443460 PMID:23502222 PMID:23563236 PMID:23728141 PMID:24033149 PMID:24033266 PMID:24077845 PMID:24167460 PMID:24227816 PMID:24266605 PMID:24345756 PMID:24359037 PMID:24514424 PMID:24578498 PMID:24728327 PMID:24754962 PMID:24782121 PMID:25239263 PMID:25326637 PMID:25359990 PMID:25619630 PMID:25624456 PMID:25676417 PMID:25741868 PMID:25879889 PMID:25955867 PMID:26022708 PMID:26214525 PMID:26264606 PMID:26445707 PMID:26492932 PMID:26702063 PMID:26710799 PMID:26716079 PMID:26748574 PMID:26767875 PMID:26812071 PMID:27013649 PMID:27232273 PMID:27266944 PMID:27288520 PMID:27375010 PMID:27416790 PMID:27418648 PMID:27577878 PMID:27680514 PMID:27799394 PMID:27876779 PMID:27894982 PMID:27924436 PMID:28066994 PMID:28104920 PMID:28126493 PMID:28166811 PMID:28209719 PMID:28234738 PMID:28271814 PMID:28373026 PMID:28440875 PMID:28492532 PMID:28602958 PMID:28642594 PMID:28747912 PMID:28825694 PMID:28947108 PMID:29146883 PMID:29146900 PMID:29156497 PMID:29178327 PMID:29189513 PMID:29230432 PMID:29279357 PMID:29365323 PMID:29588856 PMID:29680795 PMID:29724903 PMID:29882021 PMID:29947977 PMID:30030275 PMID:30190467 PMID:30280306 PMID:30564229 PMID:30578959 PMID:30620726 PMID:30697248 PMID:30802360 PMID:30894283 PMID:31035956 PMID:31106410 PMID:31203817 PMID:31245276 PMID:31256854 PMID:31309983 PMID:31340620 PMID:31350183 PMID:31710708 PMID:31785092 PMID:32088370 PMID:32098966 PMID:32135276 PMID:32488879 PMID:32555368 PMID:32865708 PMID:32914014 PMID:33363905 PMID:33370941 PMID:33417088 PMID:33510405 PMID:33560389 PMID:33684095 PMID:33715335 PMID:33759087 PMID:33957466 More...
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NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761
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G |
Golgb1 |
golgin B1 |
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ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 |
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NCBI chr11:63,843,179...63,900,665
Ensembl chr11:63,843,986...63,900,770
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G |
Gp9 |
glycoprotein IX (platelet) |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
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NCBI chr 4:120,235,539...120,236,874
Ensembl chr 4:120,235,421...120,237,110
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G |
Gtf2e1 |
general transcription factor IIE subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 |
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NCBI chr11:63,182,073...63,215,349
Ensembl chr11:63,182,349...63,213,942
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G |
H1f10 |
H1.10 linker histone |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
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NCBI chr 4:120,440,515...120,444,705
Ensembl chr 4:120,440,870...120,441,448
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G |
H1f8 |
H1.8 linker histone |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
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NCBI chr 4:148,993,133...148,998,254
Ensembl chr 4:148,993,133...148,998,254
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G |
Hacd2 |
3-hydroxyacyl-CoA dehydratase 2 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
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NCBI chr11:65,667,671...65,762,903
Ensembl chr11:65,670,281...65,762,889
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G |
Hcls1 |
hematopoietic cell specific Lyn substrate 1 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 |
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NCBI chr11:63,817,482...63,840,943
Ensembl chr11:63,817,476...63,841,014
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G |
Heg1 |
heart development protein with EGF-like domains 1 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
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NCBI chr11:67,006,954...67,095,020
Ensembl chr11:66,957,190...67,095,051
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G |
Hgd |
homogentisate 1, 2-dioxygenase |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 |
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NCBI chr11:63,086,750...63,138,325
Ensembl chr11:63,086,752...63,138,323
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G |
Hmces |
5-hydroxymethylcytosine binding, ES cell specific |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
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NCBI chr 4:120,392,812...120,415,616
Ensembl chr 4:120,366,542...120,415,616
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G |
Hspbap1 |
HSPB1 associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 |
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NCBI chr11:64,940,089...64,994,753
Ensembl chr11:64,940,091...64,994,756
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G |
Ift122 |
intraflagellar transport 122 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
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NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458
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G |
Il20rb |
interleukin 20 receptor subunit beta |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:22147895 PMID:25741868 |
|
NCBI chr 8:100,979,085...101,010,829
Ensembl chr 8:100,980,383...101,009,942
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G |
Ildr1 |
immunoglobulin-like domain containing receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 |
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NCBI chr11:64,085,774...64,118,760
Ensembl chr11:64,008,566...64,118,760
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G |
Iqcb1 |
IQ motif containing B1 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 |
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NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093
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G |
Isy1 |
ISY1 splicing factor homolog |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
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NCBI chr 4:120,276,535...120,297,227
Ensembl chr 4:120,276,292...120,297,188
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G |
Itgb5 |
integrin subunit beta 5 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
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NCBI chr11:66,828,428...66,944,231
Ensembl chr11:66,829,285...66,944,472
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G |
Kalrn |
kalirin, RhoGEF kinase |
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ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
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NCBI chr11:66,198,155...66,803,166
Ensembl chr11:66,198,173...66,797,610
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G |
Kbtbd12 |
kelch repeat and BTB domain containing 12 |
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ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
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NCBI chr 4:121,014,636...121,088,701
Ensembl chr 4:121,016,257...121,088,443
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G |
Klf15 |
Kruppel-like factor 15 |
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ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
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NCBI chr 4:122,965,718...122,978,403
Ensembl chr 4:122,965,807...122,978,374
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G |
Kpna1 |
karyopherin subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 |
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NCBI chr11:64,715,844...64,774,647
Ensembl chr11:64,717,563...64,774,623
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Ky |
kyphoscoliosis peptidase |
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ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:22147895 PMID:25741868 |
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NCBI chr 8:103,086,630...103,126,305
Ensembl chr 8:103,086,630...103,126,024
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G |
LOC685964 |
hypothetical protein LOC685964 |
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ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
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NCBI chr 4:122,817,681...122,822,175
Ensembl chr 4:122,817,681...122,822,175
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G |
Mbd4 |
methyl-CpG binding domain 4 DNA glycosylase |
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ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
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NCBI chr 4:148,893,049...148,904,833
Ensembl chr 4:148,894,280...148,904,982
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G |
Mcm2 |
minichromosome maintenance complex component 2 |
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ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
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NCBI chr 4:121,346,434...121,360,962
Ensembl chr 4:121,346,434...121,360,847
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G |
Mgll |
monoglyceride lipase |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
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NCBI chr 4:121,192,187...121,294,187
Ensembl chr 4:121,192,195...121,294,179
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G |
Mix23 |
mitochondrial matrix import factor 23 |
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ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 |
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NCBI chr11:64,660,711...64,681,000
Ensembl chr11:64,660,711...64,681,000
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G |
Mrpl3 |
mitochondrial ribosomal protein L3 |
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ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:22147895 PMID:25741868 |
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NCBI chr 8:105,670,184...105,693,544
Ensembl chr 8:105,670,184...105,693,544
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G |
Msl2 |
MSL complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:22147895 PMID:25741868 |
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NCBI chr 8:101,676,605...101,702,818
Ensembl chr 8:101,676,765...101,763,833
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G |
Muc13 |
mucin 13, cell surface associated |
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ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
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NCBI chr11:66,957,208...66,980,264
Ensembl chr11:66,960,595...66,984,727
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G |
Mylk |
myosin light chain kinase |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
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NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
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G |
Nck1 |
NCK adaptor protein 1 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:22147895 PMID:25741868 |
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NCBI chr 8:101,018,610...101,079,237
Ensembl chr 8:101,018,702...101,079,300
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G |
Ndufb4 |
NADH:ubiquinone oxidoreductase subunit B4 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 |
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NCBI chr11:63,063,802...63,070,426
Ensembl chr11:63,063,795...63,070,425
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G |
Nek11 |
NIMA-related kinase 11 |
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ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:22147895 PMID:25741868 |
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NCBI chr 8:105,767,230...106,026,676
Ensembl chr 8:105,770,548...106,026,676
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G |
Nphp3 |
nephrocystin 3 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:22147895 PMID:25741868 |
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NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
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G |
Nudt16 |
nudix hydrolase 16 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:22147895 PMID:25741868 |
|
NCBI chr 8:105,739,927...105,741,982
Ensembl chr 8:105,739,623...105,741,998
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G |
Osbpl11 |
oxysterol binding protein-like 11 |
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ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
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NCBI chr11:67,533,669...67,616,795
Ensembl chr11:67,533,672...67,596,444
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G |
Parp14 |
poly (ADP-ribose) polymerase family, member 14 |
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ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 |
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NCBI chr11:64,902,848...64,934,916
Ensembl chr11:64,902,785...64,934,916
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G |
Parp9 |
poly (ADP-ribose) polymerase family, member 9 |
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ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 |
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NCBI chr11:64,780,977...64,814,995
Ensembl chr11:64,780,981...64,815,455
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G |
Pccb |
propionyl-CoA carboxylase subunit beta |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:22147895 PMID:25741868 |
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NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234
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G |
Pdia5 |
protein disulfide isomerase family A, member 5 |
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ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 |
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NCBI chr11:65,272,152...65,359,087
Ensembl chr11:65,272,155...65,359,084
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G |
Pik3r4 |
phosphoinositide-3-kinase, regulatory subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:22147895 PMID:25741868 |
|
NCBI chr 8:106,267,908...106,316,585
Ensembl chr 8:106,267,954...106,316,584
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G |
Plxna1 |
plexin A1 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
|
NCBI chr 4:121,737,934...121,782,901
Ensembl chr 4:121,737,945...122,024,196
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G |
Plxnd1 |
plexin D1 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
|
NCBI chr 4:149,002,784...149,043,097
Ensembl chr 4:149,002,784...149,043,244
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G |
Podxl2 |
podocalyxin-like 2 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
|
NCBI chr 4:121,306,224...121,338,070
Ensembl chr 4:121,306,224...121,338,112
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G |
Polq |
DNA polymerase theta |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 |
|
NCBI chr11:63,673,796...63,775,905
Ensembl chr11:63,673,816...63,775,878
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G |
Ppp2r3a |
protein phosphatase 2, regulatory subunit B'', alpha |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:22147895 PMID:25741868 |
|
NCBI chr 8:101,703,512...101,841,530
Ensembl chr 8:101,704,778...101,841,502
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G |
Rab43 |
RAB43, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
|
NCBI chr 4:120,249,878...120,269,174
Ensembl chr 4:120,249,879...120,269,174
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G |
Rab6b |
RAB6B, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:22147895 PMID:25741868 |
|
NCBI chr 8:103,695,328...103,764,023
Ensembl chr 8:103,695,631...103,805,732
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G |
Rab7a |
RAB7A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 PMID:28492532 PMID:31710708 More...
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NCBI chr 4:120,461,966...120,510,756
Ensembl chr 4:120,461,963...120,506,889
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G |
Rabl3 |
RAB, member of RAS oncogene family-like 3 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 |
|
NCBI chr11:63,153,281...63,182,240
Ensembl chr11:63,152,792...63,182,671
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G |
Rho |
rhodopsin |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
|
NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773
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G |
Ropn1 |
rhophilin associated tail protein 1 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
|
NCBI chr11:66,097,854...66,127,148
Ensembl chr11:66,097,856...66,127,148
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G |
Rpn1 |
ribophorin I |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 PMID:28492532 PMID:31710708 More...
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NCBI chr 4:120,543,667...120,565,069
Ensembl chr 4:120,543,667...120,565,069
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G |
Ruvbl1 |
RuvB-like AAA ATPase 1 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 |
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NCBI chr 4:120,932,486...120,967,400
Ensembl chr 4:120,932,417...121,029,384
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G |
Ryk |
receptor-like tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:22147895 PMID:25741868 |
|
NCBI chr 8:103,419,348...103,492,083
Ensembl chr 8:103,419,275...103,491,698
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G |
Sec22a |
SEC22 homolog A, vesicle trafficking protein |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 |
|
NCBI chr11:65,402,583...65,462,329
Ensembl chr11:65,402,684...65,462,319
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G |
Sec61a1 |
SEC61 translocon subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532 |
|
NCBI chr 4:120,973,519...120,987,871
Ensembl chr 4:120,960,626...120,987,925
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G |
Sema5b |
semaphorin 5B |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 |
|
NCBI chr11:65,102,031...65,225,456
Ensembl chr11:65,102,031...65,225,311
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G |
Slc12a8 |
solute carrier family 12, member 8 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
|
NCBI chr11:67,116,876...67,266,548
Ensembl chr11:67,116,877...67,266,834
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G |
Slc15a2 |
solute carrier family 15 member 2 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 |
|
NCBI chr11:64,014,182...64,043,228
Ensembl chr11:64,014,182...64,043,225
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G |
Slc35g2 |
solute carrier family 35, member G2 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:22147895 PMID:25741868 |
|
NCBI chr 8:101,085,576...101,113,366
Ensembl chr 8:101,085,545...101,113,349
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G |
Slc41a3 |
solute carrier family 41, member 3 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
|
NCBI chr 4:123,109,555...123,154,766
Ensembl chr 4:123,112,748...123,154,766
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G |
Slc49a4 |
solute carrier family 49 member 4 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 |
|
NCBI chr11:64,995,629...65,068,929
Ensembl chr11:64,995,679...65,068,926
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G |
Slco2a1 |
solute carrier organic anion transporter family, member 2a1 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:22147895 PMID:25741868 |
|
NCBI chr 8:103,588,916...103,672,546
Ensembl chr 8:103,588,916...103,672,546
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G |
Snx4 |
sorting nexin 4 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
|
NCBI chr11:67,460,872...67,518,143
Ensembl chr11:67,460,870...67,518,174
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G |
Srprb |
SRP receptor subunit beta |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:22147895 PMID:25741868 |
|
NCBI chr 8:103,768,685...103,782,632
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G |
Stag1 |
stromal antigen 1 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:22147895 PMID:25741868 |
|
NCBI chr 8:101,179,039...101,564,684
Ensembl chr 8:101,179,039...101,564,677
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G |
Stxbp5l |
syntaxin binding protein 5L |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 |
|
NCBI chr11:63,334,667...63,654,270
Ensembl chr11:63,334,667...63,657,014
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G |
Tf |
transferrin |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:22147895 PMID:25741868 |
|
NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511
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G |
Tmcc1 |
transmembrane and coiled-coil domain family 1 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
|
NCBI chr 4:149,069,252...149,239,585
Ensembl chr 4:149,069,260...149,239,620
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G |
Tmem108 |
transmembrane protein 108 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:22147895 PMID:25741868 |
|
NCBI chr 8:104,066,081...104,360,172
Ensembl chr 8:104,066,078...104,360,094
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G |
Topbp1 |
DNA topoisomerase II binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:22147895 PMID:25741868 |
|
NCBI chr 8:103,887,805...103,931,662
Ensembl chr 8:103,887,865...103,931,674
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G |
Tpra1 |
transmembrane protein adipocyte associated 1 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
|
NCBI chr 4:121,364,093...121,375,275
Ensembl chr 4:121,364,091...121,375,269
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G |
Trh |
thyrotropin releasing hormone |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
|
NCBI chr 4:124,742,111...124,777,094
Ensembl chr 4:124,742,111...124,744,637
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G |
Txnrd3 |
thioredoxin reductase 3 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
|
NCBI chr 4:122,072,548...122,112,493
Ensembl chr 4:122,072,548...122,112,491
|
|
G |
Uba5 |
ubiquitin-like modifier activating enzyme 5 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:22147895 PMID:25741868 |
|
NCBI chr 8:104,665,241...104,680,850
Ensembl chr 8:104,665,046...104,680,894
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G |
Umps |
uridine monophosphate synthetase |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
|
NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903
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G |
Uroc1 |
urocanate hydratase 1 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
|
NCBI chr 4:122,844,933...122,876,584
Ensembl chr 4:122,844,926...122,876,591
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G |
Wdr5b |
WD repeat domain 5B |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 |
|
NCBI chr11:64,710,945...64,712,804
Ensembl chr11:64,710,355...64,712,807
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G |
Zfp148 |
zinc finger protein 148 |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
|
NCBI chr11:67,276,455...67,385,803
Ensembl chr11:67,281,707...67,385,772
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G |
Zxdc |
ZXD family zinc finger C |
|
ISO |
ClinVar Annotator: match by term: Emberger syndrome |
ClinVar |
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 |
|
NCBI chr 4:122,882,389...122,914,486
Ensembl chr 4:122,882,336...122,916,496
|
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G |
Birc5 |
baculoviral IAP repeat-containing 5 |
|
ISO |
|
RGD |
PMID:18426652 |
RGD:11038658 |
NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
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G |
Flt3lg |
Fms related receptor tyrosine kinase 3 ligand |
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ISO |
protein:increased expression:serum: |
RGD |
PMID:10214861 |
RGD:11049479 |
NCBI chr 1:95,615,056...95,620,463
Ensembl chr 1:95,609,370...95,620,463
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G |
Hfe |
homeostatic iron regulator |
no_association |
ISO |
associated with Thrombocytosis;DNA:missense mutation: :p.C282Y (human) associated with Thrombocytosis;DNA:missense mutation: :p.H63D (human) |
RGD |
PMID:17654685 PMID:17654685 |
RGD:10755539, RGD:10755539 |
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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G |
Tcn2 |
transcobalamin 2 |
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ISO |
protein:increased expression:: |
RGD |
PMID:1059479 |
RGD:11060122 |
NCBI chr14:78,813,343...78,828,549
Ensembl chr14:78,813,343...78,828,489
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G |
Tert |
telomerase reverse transcriptase |
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ISO |
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RGD |
PMID:18426652 |
RGD:11038658 |
NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
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G |
Tnf |
tumor necrosis factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10870480 |
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NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Ybx1 |
Y box binding protein 1 |
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ISO |
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RGD |
PMID:14604279 |
RGD:1580637 |
NCBI chr 5:132,882,137...132,899,108
Ensembl chr 5:132,882,145...132,898,862
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G |
Birc5 |
baculoviral IAP repeat-containing 5 |
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ISO |
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RGD |
PMID:18426652 |
RGD:11038658 |
NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
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G |
C3 |
complement C3 |
disease_progression |
ISO |
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RGD |
PMID:9741227 |
RGD:11041158 |
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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G |
Cfb |
complement factor B |
disease_progression |
ISO |
|
RGD |
PMID:9741227 |
RGD:11041158 |
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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G |
Tert |
telomerase reverse transcriptase |
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ISO |
|
RGD |
PMID:18426652 |
RGD:11038658 |
NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
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G |
Tet2 |
tet methylcytosine dioxygenase 2 |
disease_progression |
ISO |
|
RGD |
PMID:25200248 |
RGD:11038682 |
NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
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G |
Abcb7 |
ATP binding cassette subfamily B member 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16892088 PMID:18637800 PMID:18398482 |
RGD:11038732 |
NCBI chr X:69,295,598...69,436,775
Ensembl chr X:69,295,552...69,436,858
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G |
Alad |
aminolevulinate dehydratase |
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ISO |
protein:decreased activity:kidney, liver, spleen |
RGD |
PMID:5891055 |
RGD:12904678 |
NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474
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G |
Alas2 |
5'-aminolevulinate synthase 2 |
susceptibility |
ISO |
DNA:transversion:cds:p.F165L (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16716198 PMID:16892088 PMID:7949148 |
RGD:1599037 |
NCBI chr X:19,463,146...19,486,526
Ensembl chr X:19,463,171...19,486,519
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G |
Calr |
calreticulin |
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ISO |
DNA:frameshift mutations:cds:p.K385fs*47, p.L367fs*46 (human) |
RGD |
PMID:24325359 |
RGD:11352763 |
NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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G |
Gdf15 |
growth differentiation factor 15 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19036111 |
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NCBI chr16:18,805,312...18,807,893
Ensembl chr16:18,805,239...18,808,055
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G |
Glrx5 |
glutaredoxin 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18637800 |
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NCBI chr 6:123,988,169...123,998,545
Ensembl chr 6:123,988,134...123,998,545
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G |
Hspa9 |
heat shock protein family A (Hsp70) member 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr18:26,536,131...26,554,294
Ensembl chr18:26,535,798...26,554,292
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G |
Mt-co1 |
mitochondrially encoded cytochrome c oxidase I |
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ISO |
ClinVar Annotator: match by term: Acquired idiopathic sideroblastic anemia |
ClinVar |
PMID:9389715 |
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NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
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G |
Pus1 |
pseudouridine synthase 1 |
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ISO |
ClinVar Annotator: match by term: Sideroblastic anemia |
ClinVar |
PMID:28492532 |
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NCBI chr12:45,880,364...45,889,196
Ensembl chr12:45,880,440...45,889,196
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G |
Slc25a38 |
solute carrier family 25, member 38 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19412178 |
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NCBI chr 8:119,835,546...119,848,334
Ensembl chr 8:119,835,634...119,848,332
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G |
Sod2 |
superoxide dismutase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16910769 PMID:21326867 |
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NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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G |
Tfrc |
transferrin receptor |
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ISO |
mRNA,protein:increased expression:erythroblast: |
RGD |
PMID:21326867 |
RGD:11062136 |
NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
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G |
Alas2 |
5'-aminolevulinate synthase 2 |
onset |
ISO |
ClinVar Annotator: match by term: Anemia, hereditary sideroblastic 1, pyridoxine refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia CTD Direct Evidence: marker/mechanism DNA:missense mutations:cds:p.R452H, R452C, K156E(human) DNA:mutation:exon: 1236 G> A, p.C395Y (human) DNA:mutations:exons:p.K299Q,A172T(human) |
OMIM ClinVar CTD RGD |
PMID:1570328 PMID:7560104 PMID:7705839 PMID:7949148 PMID:8107717 PMID:9226183 PMID:9488633 PMID:9858242 PMID:10029606 PMID:10444183 PMID:11110715 PMID:12031592 PMID:12531813 PMID:12663458 PMID:16121195 PMID:16446107 PMID:18637800 PMID:18823803 PMID:20848343 PMID:21653323 PMID:22269113 PMID:22740690 PMID:22778251 PMID:22995991 PMID:23315997 PMID:25741868 PMID:28492532 PMID:28840292 PMID:21252495 PMID:11110715 PMID:7560104 More...
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RGD:11035244, RGD:11035243, RGD:11035241 |
NCBI chr X:19,463,146...19,486,526
Ensembl chr X:19,463,171...19,486,519
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G |
Apex2 |
apurinic/apyrimidinic endodeoxyribonuclease 2 |
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ISO |
ClinVar Annotator: match by term: Anemia, sideroblastic, 1 |
ClinVar |
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NCBI chr X:19,425,684...19,508,459
Ensembl chr X:19,487,419...19,508,439
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G |
Slc25a38 |
solute carrier family 25, member 38 |
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ISO |
ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia |
ClinVar |
PMID:28492532 |
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NCBI chr 8:119,835,546...119,848,334
Ensembl chr 8:119,835,634...119,848,332
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G |
Hscb |
HscB mitochondrial iron-sulfur cluster co-chaperone |
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ISO |
ClinVar Annotator: match by term: Anemia, sideroblastic, 5 |
OMIM ClinVar |
PMID:32634119 |
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NCBI chr12:45,821,527...45,831,902
Ensembl chr12:45,821,555...45,831,909
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G |
Trnt1 |
tRNA nucleotidyl transferase 1 |
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ISO |
ClinVar Annotator: match by term: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay |
OMIM ClinVar |
PMID:2649490 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25193871 PMID:25652405 PMID:25741868 PMID:26494905 PMID:27370603 PMID:27389523 PMID:27531075 PMID:28492532 PMID:29055896 PMID:29358286 PMID:29454993 PMID:31019026 PMID:31338833 PMID:32371413 PMID:32592741 PMID:33332575 More...
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NCBI chr 4:139,681,115...139,703,611
Ensembl chr 4:139,680,858...139,703,611
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G |
Abcb7 |
ATP binding cassette subfamily B member 7 |
susceptibility |
ISO |
DNA:missense mutation: :p.I400M (human) ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia | ClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxia CTD Direct Evidence: marker/mechanism DNA:missense mutation:exon:p.V411L (1299G>C) (human) DNA:missense mutation:exon:p.E433K (1305G>A) (human) |
ClinVar CTD OMIM RGD |
PMID:4045952 PMID:9536098 PMID:10196363 PMID:11050011 PMID:11843825 PMID:17576681 PMID:21326867 PMID:22398176 PMID:25741868 PMID:28492532 PMID:10196363 PMID:11843825 PMID:11050011 More...
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RGD:1598600, RGD:11038735, RGD:11038734 |
NCBI chr X:69,295,598...69,436,775
Ensembl chr X:69,295,552...69,436,858
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G |
Alas2 |
5'-aminolevulinate synthase 2 |
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ISO |
ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia |
ClinVar |
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NCBI chr X:19,463,146...19,486,526
Ensembl chr X:19,463,171...19,486,519
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