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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:anemia
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Accession:DOID:2355 term browser browse the term
Definition:A reduction in the number of circulating ERYTHROCYTES or in the quantity of HEMOGLOBIN.
Synonyms:exact_synonym: Anemias;   anaemia
 primary_id: MESH:D000740;   RDO:0004828
 xref: ICD10CM:D64.9;   ICD9CM:285.9;   NCI:C2869
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO associated with Carcinoma, Non-Small-Cell Lung;DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:18156303, PMID:23141116 RGD:11038916, RGD:11038919 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Ache acetylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:31170385 NCBI chr12:22,472,358...22,477,052
Ensembl chr12:22,472,358...22,478,753
JBrowse link
G Acvrl1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Anemia ClinVar PMID:30311386 NCBI chr 7:142,769,942...142,787,336
Ensembl chr 7:142,776,252...142,787,335
JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:3524928 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Alad aminolevulinate dehydratase IDA associated with Trypanosomiasis;protein:increased activity:erythrocyte RGD PMID:21854703 RGD:12904694 NCBI chr 5:78,368,867...78,379,206
Ensembl chr 5:78,368,867...78,379,346
JBrowse link
G Alas2 5'-aminolevulinate synthase 2 IEP mRNA:decreased expression:liver: RGD PMID:21296123 RGD:10449049 NCBI chr  X:23,167,576...23,187,356
Ensembl chr  X:23,167,696...23,187,341
JBrowse link
G Ank1 ankyrin 1 severity ISO associated with Spherocytosis, Hereditary;DNA:nonsense, frameshift,splice mutations:exons,introns:
ClinVar Annotator: match by term: Anemia
ClinVar PMID:30311386, PMID:11372755 RGD:11251706 NCBI chr16:73,681,422...73,912,605
Ensembl chr16:73,681,422...73,827,488
JBrowse link
G Apoa4 apolipoprotein A4 ISO associated with Inflammation; protein:increased expression:blood plasma (mouse) RGD PMID:22146476 RGD:5685688 NCBI chr 8:50,536,983...50,539,371
Ensembl chr 8:50,537,009...50,539,376
JBrowse link
G Aspg asparaginase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2187653 NCBI chr 6:136,682,279...136,701,673
Ensembl chr 6:136,682,126...136,701,628
JBrowse link
G Atg5 autophagy related 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26568842 NCBI chr20:49,301,783...49,393,147
Ensembl chr20:49,318,308...49,393,140
JBrowse link
G Atg7 autophagy related 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26568842 NCBI chr 4:146,570,113...146,777,093
Ensembl chr 4:146,598,413...146,777,124
JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Anaemia ClinVar PMID:2842249 PMID:8496742 PMID:11020638 PMID:15260953 PMID:16632466 PMID:19652145 PMID:22534615 PMID:22842232 PMID:22850527 PMID:22924536 PMID:22933743 PMID:23409136 PMID:23483595 PMID:24088041 PMID:24100174 PMID:24123283 PMID:24431296 PMID:24436111 PMID:24468074 PMID:24631656 PMID:24739246 PMID:24842602 PMID:24996492 PMID:25359261 PMID:25523819 PMID:25656163 PMID:25681536 PMID:25741868 PMID:25895915 PMID:25996915 PMID:26297560 PMID:26400718 PMID:26410222 PMID:26633545 PMID:27091223 PMID:28293679 PMID:28492532 PMID:29184165 PMID:30311386 PMID:32581362 NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
JBrowse link
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Anemia ClinVar PMID:30311386 NCBI chr12:39,553,903...39,603,326
Ensembl chr12:39,553,903...39,603,326
JBrowse link
G Atp7a ATPase copper transporting alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23776592 NCBI chr  X:77,076,085...77,193,644
Ensembl chr  X:77,076,106...77,193,644
JBrowse link
G Bmp6 bone morphogenetic protein 6 IEP mRNA,protein:decreased expression:liver RGD PMID:21859731 RGD:7242407 NCBI chr17:26,955,142...27,112,820
Ensembl chr17:26,955,142...27,112,820
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 treatment ISO associated with Colonic Neoplasms RGD PMID:24963216 RGD:11528557 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Cdk6 cyclin-dependent kinase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28255017 NCBI chr 4:27,781,728...27,969,653
Ensembl chr 4:27,785,647...27,966,398
JBrowse link
G Cdkn1c cyclin-dependent kinase inhibitor 1C ISO ClinVar Annotator: match by term: Anemia ClinVar PMID:28492532 PMID:30311386 NCBI chr 1:216,661,067...216,663,791
Ensembl chr 1:216,661,080...216,663,721
JBrowse link
G Clec11a C-type lectin domain containing 11A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19884328 NCBI chr 1:100,290,374...100,293,515
Ensembl chr 1:100,289,295...100,293,558
JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Anemia ClinVar PMID:8787673 PMID:14582039 PMID:26467025 PMID:26809805 PMID:28492532 PMID:30311386 NCBI chr 9:88,314,763...88,357,183
Ensembl chr 9:88,232,455...88,357,182
JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Anemia ClinVar PMID:30311386 NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8297739 PMID:11732872 NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12085204 PMID:16076697 PMID:17047649 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO RGD PMID:12522253 RGD:11251731 NCBI chr  X:155,844,914...155,862,363
Ensembl chr  X:155,844,857...155,862,475
JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Anemia ClinVar PMID:30311386 NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
JBrowse link
G Ephx1 epoxide hydrolase 1 treatment ISO associated with Ovarian Neoplasms RGD PMID:24533712 RGD:11097078 NCBI chr13:99,271,390...99,300,580
Ensembl chr13:99,271,366...99,300,579
JBrowse link
G Epo erythropoietin ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:serum
CTD Direct Evidence: marker/mechanism|therapeutic
associated with Diabetic Nephropathies;protein:decreased expression:serum
CTD PMID:1516988 PMID:1574960 PMID:1893952 PMID:1982298 PMID:2186273 PMID:2206997 PMID:7529132 PMID:7602351 PMID:7631396 PMID:7732690 PMID:8202718 PMID:8250662 PMID:8260696 PMID:8418619 PMID:8504984 PMID:9118049 PMID:9616293 PMID:9617462 PMID:9743294 PMID:10506726 PMID:10713657 PMID:11245434 PMID:11273875 PMID:11454181 PMID:11569724 PMID:11828949 PMID:11981781 PMID:12670280 PMID:12713065 PMID:12820454 PMID:12897097 PMID:12899718 PMID:14568602 PMID:14706663 PMID:15160343 PMID:15232364 PMID:15660393 PMID:16434484 PMID:16511603 PMID:16637862 PMID:16707910 PMID:16798232 PMID:16949463 PMID:16970215 PMID:16970600 PMID:17058596 PMID:17168855 PMID:17180133 PMID:17288690 PMID:17397412 PMID:17409018 PMID:17559739 PMID:18265628 PMID:18403296 PMID:18611800 PMID:18695134 PMID:19015056 PMID:19212639 PMID:19787831 PMID:20189893 PMID:20303990 PMID:21860424 PMID:22174104 PMID:23077460, PMID:15855576, PMID:16681558 RGD:2313896, RGD:2313843 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G Epor erythropoietin receptor susceptibility ISO associated with Lupus Erythematosus, Systemic; RGD PMID:23080113, PMID:9808048 RGD:11041607, RGD:11041637 NCBI chr 8:22,969,737...22,974,468
Ensembl chr 8:22,969,745...22,974,321
JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit treatment ISO associated with Ovarian Neoplasms;DNA:SNP: :rs11615 (human) RGD PMID:25881102 RGD:11252176 NCBI chr 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
JBrowse link
G Evc2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by term: Anemia ClinVar PMID:30311386 NCBI chr14:78,128,620...78,212,394
Ensembl chr14:78,129,749...78,211,931
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Anaemia ClinVar PMID:25741868 PMID:30311386 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: Anemia ClinVar PMID:25741868 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase treatment ISO associated with Malaria, Falciparum;DNA:SNPs: :rs1050828, rs1050829 (human)
associated with Kidney Failure, Chronic
RGD PMID:25940869, PMID:24934404, PMID:25261071 RGD:10449105, RGD:10449114, RGD:10449108 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Anemia ClinVar PMID:32581362 NCBI chr  X:15,273,937...15,281,759
Ensembl chr  X:15,378,789...15,382,066
JBrowse link
G Gata2 GATA binding protein 2 ISO ClinVar Annotator: match by term: Anemia ClinVar PMID:25741868, PMID:22996665 RGD:11049511 NCBI chr 4:120,129,028...120,142,490
Ensembl chr 4:120,133,713...120,142,488
JBrowse link
G Gdf15 growth differentiation factor 15 treatment ISO associated with Multiple Myeloma RGD PMID:25052873 RGD:11041612 NCBI chr16:20,555,395...20,557,978
Ensembl chr16:20,555,395...20,557,978
JBrowse link
G Gh1 growth hormone 1 treatment ISO RGD PMID:11895216 RGD:11352732 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Gpx1 glutathione peroxidase 1 treatment IDA
ISO
associated with Kidney Failure, Chronic RGD PMID:21422078, PMID:8939405 RGD:11352776, RGD:11352778 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Gsr glutathione-disulfide reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:5984971 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO associated with kidney transplantation; RGD PMID:19096080 RGD:10450867 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Hamp hepcidin antimicrobial peptide treatment ISO
IEP
IMP
IDA
associated with Multiple Myeloma
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver
associated with Malaria, Falciparum
associated with Inflammation
CTD PMID:16434484 PMID:16627556 PMID:24086573, PMID:25052873, PMID:21411831, PMID:22689680, PMID:21730356, PMID:24895335, PMID:24357729 RGD:11041612, RGD:11041773, RGD:11041620, RGD:11041619, RGD:11041618, RGD:11041614 NCBI chr 1:89,368,021...89,369,960
Ensembl chr 1:89,368,021...89,369,960
JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: Anemia ClinVar PMID:5639009 PMID:7558871 PMID:25741868 NCBI chr10:15,589,364...15,590,207
Ensembl chr10:15,589,364...15,590,220
JBrowse link
G Hbb hemoglobin subunit beta IEP
ISO
ClinVar Annotator: match by term: Anaemia
ClinVar Annotator: match by term: Anemia
ClinVar PMID:49057 PMID:81926 PMID:700140 PMID:893136 PMID:909565 PMID:1301203 PMID:1347969 PMID:1376298 PMID:1693293 PMID:1734721 PMID:1802884 PMID:1960615 PMID:1986365 PMID:2296310 PMID:2442092 PMID:2579336 PMID:2582106 PMID:2867271 PMID:2888754 PMID:2891298 PMID:2893541 PMID:2898142 PMID:2898460 PMID:3031297 PMID:3048433 PMID:3354556 PMID:3690667 PMID:3752087 PMID:3821796 PMID:4232783 PMID:4351905 PMID:4625560 PMID:5658717 PMID:5660684 PMID:5863839 PMID:5964983 PMID:6162860 PMID:6166632 PMID:6198908 PMID:6268660 PMID:6272289 PMID:6275383 PMID:6280057 PMID:6285354 PMID:6457059 PMID:6583683 PMID:6584911 PMID:6859036 PMID:6896219 PMID:7177196 PMID:7395858 PMID:7993409 PMID:8095930 PMID:8199597 PMID:8462981 PMID:8839873 PMID:9653159 PMID:9859938 PMID:10602954 PMID:11425418 PMID:11545326 PMID:11741197 PMID:11830454 PMID:11880644 PMID:12124399 PMID:12149194 PMID:12850492 PMID:13066514 PMID:13115700 PMID:13369537 PMID:13464827 PMID:13716853 PMID:13852872 PMID:13892631 PMID:14133899 PMID:14734204 PMID:15114532 PMID:15470211 PMID:15481886 PMID:16001361 PMID:16114182 PMID:16750922 PMID:17278112 PMID:17287491 PMID:18024613 PMID:18048408 PMID:18192399 PMID:18568278 PMID:19061217 PMID:19440680 PMID:19758965 PMID:19841268 PMID:19958185 PMID:20301551 PMID:20301599 PMID:20305663 PMID:20492708 PMID:20642331 PMID:20861612 PMID:20954261 PMID:21131035 PMID:21228398 PMID:21389146 PMID:21417574 PMID:21529713 PMID:21732929 PMID:22010933 PMID:22028795 PMID:22075726 PMID:22260787 PMID:22271886 PMID:22625666 PMID:22975760 PMID:23321370 PMID:23647352 PMID:23729725 PMID:24033266 PMID:24368026 PMID:24493127 PMID:24581976 PMID:25023084 PMID:25023085 PMID:25087612 PMID:25370867 PMID:25572186 PMID:25741868 PMID:26275168 PMID:26372199 PMID:26554862 PMID:27427187 PMID:27821015 PMID:28356267 PMID:28366028 PMID:28492532 PMID:28670940 PMID:30311386, PMID:21296123 RGD:10449049 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: Anemia ClinVar PMID:1347969 PMID:1693293 PMID:2442092 PMID:4625560 PMID:5660684 PMID:5964983 PMID:13892631 PMID:14133899 PMID:25741868 PMID:30311386 NCBI chr 1:168,945,531...168,953,023
Ensembl chr 1:168,945,449...168,965,566
JBrowse link
G Hk1 hexokinase 1 ISO DNA:SNP: :rs7072268 (human) RGD PMID:19651813 RGD:11353879 NCBI chr20:31,911,460...31,979,780
Ensembl chr20:31,912,262...31,956,649
JBrowse link
G Hoxd13 homeo box D13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692
JBrowse link
G Hp haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16637741 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:12090760 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Il10 interleukin 10 severity ISO associated with Malaria;protein:decreased expression:plasma RGD PMID:9635949 RGD:11049182 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il1b interleukin 1 beta ISO associated with Arthritis, Rheumatoid;protein:increased expression:serum RGD PMID:3264697 RGD:10450886 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:7678812 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il3 interleukin 3 ISO CTD Direct Evidence: therapeutic CTD PMID:8202718 PMID:12090760 NCBI chr10:39,620,535...39,622,973
Ensembl chr10:39,620,563...39,622,973
JBrowse link
G Il6 interleukin 6 ISO associated with Inflammation
associated with Colonic Neoplasms;protein:increased expression:serum (mouse)
RGD PMID:24357729, PMID:19265263 RGD:11041614, RGD:11060277 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Ireb2 iron responsive element binding protein 2 treatment IEP
IDA
mRNA:decreased expression:brain (rat) RGD PMID:27602087, PMID:26584806 RGD:12903962, RGD:12903965 NCBI chr 8:59,450,974...59,503,634
Ensembl chr 8:59,420,123...59,501,118
JBrowse link
G Itpa inosine triphosphatase treatment ISO associated with Hepatitis C, Chronic:DNA:SNPs: :rs7270101, rs1127354 (human)
associated with Hepatitis C, Chronic:DNA:SNP: :rs1127354 (human)
RGD PMID:26154744, PMID:22571903 RGD:11074414, RGD:14975306 NCBI chr 3:123,209,611...123,221,266
Ensembl chr 3:123,209,608...123,221,269
JBrowse link
G Jak2 Janus kinase 2 ISO RGD PMID:9590174 RGD:737719 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G LOC100361854 ribosomal protein S26-like ISO ClinVar Annotator: match by term: Anemia ClinVar PMID:32581362 NCBI chr  X:115,495,660...115,496,062
Ensembl chr  X:115,495,698...115,496,045
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma; DNA:SNP:: rs1801133(human)
CTD Direct Evidence: marker/mechanism
CTD PMID:19391036 PMID:25007187, PMID:25007187 RGD:11080979 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Nipbl NIPBL, cohesin loading factor ISO ClinVar Annotator: match by term: Anaemia ClinVar PMID:30311386 NCBI chr 2:57,508,830...57,676,197
Ensembl chr 2:57,509,428...57,600,820
JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Anemia ClinVar PMID:25741868 PMID:30311386 NCBI chr 5:59,128,186...59,147,321
Ensembl chr 5:59,128,315...59,147,255
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Anemia ClinVar PMID:32581362 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
JBrowse link
G Nup98 nucleoporin 98 and 96 precursor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr 1:167,213,866...167,308,851
Ensembl chr 1:167,213,866...167,308,851
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20561897 NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
JBrowse link
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Anaemia ClinVar PMID:30311386 NCBI chr  X:35,970,650...36,926,616 JBrowse link
G Pon1 paraoxonase 1 severity
treatment
ISO associated with Gastrointestinal Neoplasms;protein:decreased activity:serum (human)
associated with Renal Insufficiency, Chronic
RGD PMID:18423402, PMID:17324148 RGD:11552571, RGD:11552579 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Prl prolactin ISO CTD Direct Evidence: therapeutic CTD PMID:10340396 NCBI chr17:39,814,236...39,824,299
Ensembl chr17:39,814,244...39,824,299
JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:15354979 PMID:19578808 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:3524928 NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151
JBrowse link
G Rpl11 ribosomal protein L11 ISO ClinVar Annotator: match by term: Anemia ClinVar PMID:32581362 NCBI chr 5:154,390,809...154,394,412
Ensembl chr 5:154,388,140...154,394,328
JBrowse link
G Rps29 ribosomal protein S29 ISO ClinVar Annotator: match by term: Anaemia ClinVar PMID:24829207 PMID:30311386 NCBI chr 6:91,455,333...91,456,709
Ensembl chr 6:91,455,333...91,456,696
Ensembl chr 3:91,455,333...91,456,696
Ensembl chr 7:91,455,333...91,456,696
JBrowse link
G Septin9 septin 9 ISO ClinVar Annotator: match by term: Anaemia ClinVar PMID:30311386 NCBI chr10:106,208,308...106,340,747
Ensembl chr10:106,264,434...106,348,490
JBrowse link
G Slc11a2 solute carrier family 11 member 2 ISO associated with Restless leg syndrome: DNA:SNPs:introns: RGD PMID:17510944 RGD:5688718 NCBI chr 7:142,025,812...142,062,892
Ensembl chr 7:142,025,815...142,063,212
JBrowse link
G Slc25a37 solute carrier family 25 member 37 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22253756 NCBI chr15:51,125,764...51,168,384
Ensembl chr15:51,128,268...51,168,384
JBrowse link
G Slc40a1 solute carrier family 40 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16434484 NCBI chr 9:52,819,451...52,830,461
Ensembl chr 9:52,894,365...52,912,293
JBrowse link
G Slc46a1 solute carrier family 46 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21346251 NCBI chr10:65,728,508...65,741,708
Ensembl chr10:65,733,991...65,740,828
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20800516, PMID:8790408 RGD:1581262 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Anemia ClinVar PMID:30311386 PMID:32581362 NCBI chr13:92,264,231...92,340,091
Ensembl chr13:92,264,231...92,340,083
JBrowse link
G Tf transferrin treatment ISO
IEP
associated with Heart Failure
associated with Trypanosomiasis;protein:increased expression:serum
RGD PMID:23680589, PMID:23270806 RGD:7244154, RGD:7244377 NCBI chr 8:111,694,570...111,721,275
Ensembl chr 8:111,673,547...111,721,333
JBrowse link
G Thoc5 THO complex 5 ISO RGD PMID:20051105 RGD:2317224 NCBI chr14:85,138,219...85,171,729
Ensembl chr14:85,142,279...85,171,726
JBrowse link
G Tnf tumor necrosis factor ISO associated with Arthritis, Rheumatoid
CTD Direct Evidence: marker/mechanism
associated with HIV Infections;protein:increased expression:serum
CTD PMID:16566752, PMID:14613268, PMID:2324681 RGD:10450570, RGD:10450888 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf10b TNF receptor superfamily member 10b ISO CTD Direct Evidence: marker/mechanism CTD PMID:19652058 NCBI chr15:51,433,853...51,464,215 JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO associated with Arthritis, Rheumatoid RGD PMID:14613268 RGD:10450570 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Anaemia ClinVar PMID:1351039 PMID:1358785 PMID:1997217 PMID:2002274 PMID:2063870 PMID:2237288 PMID:2320592 PMID:2349941 PMID:2590199 PMID:2646319 PMID:3030336 PMID:3229002 PMID:3627183 PMID:3934968 PMID:7868124 PMID:8698351 PMID:9017939 PMID:10762172 PMID:10842715 PMID:11385707 PMID:11752419 PMID:11752443 PMID:12050338 PMID:12217248 PMID:12874413 PMID:12874414 PMID:14569203 PMID:14640030 PMID:15123043 PMID:15299606 PMID:15820680 PMID:16011990 PMID:16432141 PMID:16631014 PMID:16631015 PMID:17251346 PMID:17503405 PMID:18276611 PMID:18318779 PMID:18830126 PMID:19781421 PMID:20301373 PMID:20435197 PMID:21600538 PMID:22083004 PMID:22184092 PMID:22745357 PMID:22877808 PMID:22995991 PMID:23414091 PMID:23713495 PMID:23716704 PMID:24073013 PMID:24184229 PMID:24474780 PMID:24517438 PMID:24633258 PMID:24818650 PMID:24945718 PMID:25225131 PMID:25395306 PMID:25551524 PMID:25741868 PMID:25819286 PMID:25846356 PMID:26123279 PMID:26428663 PMID:26467025 PMID:26537620 PMID:28492532 NCBI chr18:15,532,963...15,542,180
Ensembl chr18:15,532,963...15,540,177
JBrowse link
G Tyms thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19648163 NCBI chr 9:121,918,875...121,931,564
Ensembl chr 9:121,918,947...121,931,564
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO associated with Renal Insufficiency,Chronic;protein:increased expression:serum: RGD PMID:18974656 RGD:7241202 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
JBrowse link
acute chest syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO associated with sickle cell anemia; RGD PMID:23590899 RGD:10450838 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO associated with Anemia, Sickle Cell;DNA:deletion:: (human) RGD PMID:23590899 RGD:10450838 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Hbb hemoglobin subunit beta ISO DNA:SNPs, haplotypes RGD PMID:23952145 RGD:10449047 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
G Hmox1 heme oxygenase 1 ISO associated with Anemia, Sickle Cell;DNA:repeat:promoter RGD PMID:22966170 RGD:10755560 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO associated with Anemia, Sickle Cell;DNA:repeats:intron:
associated with Anemia, Sickle Cell;DNA:polymorphism: :-786T>C(human)
RGD PMID:25263931, PMID:14687036 RGD:11533931, RGD:11533934 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Vegfa vascular endothelial growth factor A susceptibility ISO associated with Anemia, Sickle Cell;DNA:polymorphism:583C > T (human)
associated with Anemia, Sickle Cell;DNA:SNPs: : rs2010963, rs833068,rs3025020(human)
RGD PMID:25130874, PMID:22925497 RGD:11075233, RGD:11075235 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
alpha thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:24577940 RGD:11352811 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Hba-a1 hemoglobin alpha, adult chain 1 severity ISO
IAGP
DNA:mutations:cds:c.179G>A (p.G60D);c.427¿¿¿T>C(human)
DNA:deletion:cds:c.del-2_-3del(human)
associated with Anemia, Sickle Cell;
DNA:missense mutation:cds: c.2T>C(human)
RGD PMID:4044827, PMID:14555303, PMID:24829075, PMID:4006915, PMID:9604545, PMID:3680504 RGD:10449442, RGD:11353869, RGD:10755575, RGD:10755570, RGD:10755568, RGD:10755567 NCBI chr10:15,602,794...15,603,649
Ensembl chr10:15,602,794...15,603,649
JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO DNA:point mutation:exon:p.M1T (human)
ClinVar Annotator: match by term: alpha Thalassemia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:604131
ClinVar
CTD
OMIM
PMID:508945 PMID:538560 PMID:640847 PMID:1428945 PMID:1487419 PMID:1553958 PMID:2197725 PMID:2318293 PMID:2544542 PMID:2566576 PMID:2882671 PMID:2986746 PMID:3191033 PMID:3793931 PMID:5410724 PMID:5460202 PMID:5475469 PMID:5960254 PMID:6158051 PMID:6255436 PMID:6725558 PMID:6882779 PMID:7440717 PMID:7448125 PMID:7639274 PMID:7910813 PMID:8192150 PMID:8460633 PMID:8781536 PMID:9099846 PMID:10569720 PMID:10602170 PMID:11017952 PMID:12393486 PMID:13510789 PMID:13703277 PMID:14978697 PMID:15008259 PMID:15365991 PMID:15650030 PMID:16798638 PMID:20154289 PMID:20615730 PMID:21599435 PMID:22924376 PMID:23590659 PMID:23668236 PMID:24025420 PMID:24432778 PMID:24826792 PMID:25370869 PMID:25741868 PMID:26114741 PMID:26467025 PMID:26911300 PMID:28791910 PMID:29484903 PMID:30864493, PMID:6490612, PMID:4044827 RGD:1599361, RGD:10449442 NCBI chr10:15,589,364...15,590,207
Ensembl chr10:15,589,364...15,590,220
JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO OMIM NCBI chr10:15,577,249...15,577,977
Ensembl chr10:15,577,249...15,577,977
JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: A-Thalassemia
ClinVar Annotator: match by term: alpha Thalassemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:88735 PMID:1390250 PMID:1427786 PMID:1463768 PMID:1483699 PMID:1634236 PMID:1634368 PMID:1734721 PMID:1769663 PMID:1917531 PMID:1967205 PMID:2004023 PMID:2200760 PMID:2298457 PMID:2446680 PMID:2577233 PMID:2713503 PMID:2867271 PMID:2898955 PMID:2903765 PMID:3422218 PMID:3462712 PMID:6162860 PMID:6188062 PMID:6189507 PMID:6190800 PMID:6264391 PMID:6264477 PMID:6270663 PMID:6280057 PMID:6304979 PMID:6457059 PMID:6583702 PMID:6585831 PMID:6714226 PMID:6896219 PMID:7151176 PMID:7312624 PMID:7522523 PMID:7558878 PMID:7668219 PMID:8095930 PMID:8330981 PMID:8373896 PMID:8602996 PMID:8619407 PMID:8917506 PMID:9048934 PMID:9101288 PMID:9140720 PMID:9401495 PMID:9490703 PMID:10335989 PMID:10612821 PMID:11559932 PMID:11857746 PMID:11939510 PMID:12144057 PMID:12764548 PMID:14576320 PMID:15108284 PMID:15654898 PMID:16291734 PMID:16311287 PMID:16470532 PMID:17331080 PMID:17365006 PMID:18294253 PMID:18603555 PMID:19000664 PMID:19254853 PMID:20132300 PMID:20301599 PMID:20395516 PMID:20412082 PMID:20437613 PMID:20704537 PMID:21119755 PMID:21228398 PMID:21389146 PMID:21417574 PMID:21797703 PMID:22271886 PMID:22335963 PMID:22392582 PMID:22975760 PMID:23162295 PMID:23234478 PMID:23321370 PMID:23348723 PMID:23425204 PMID:23590658 PMID:23637309 PMID:24033266 PMID:24857915 PMID:25087612 PMID:25089872 PMID:25155404 PMID:25332589 PMID:25525159 PMID:25572186 PMID:25741868 PMID:25849334 PMID:25856402 PMID:26029792 PMID:26097845 PMID:26193974 PMID:26467025 PMID:27263053 PMID:27427187 PMID:27690257 PMID:27821015 PMID:28366028 PMID:28391758 PMID:28492532 PMID:28635337 PMID:28670940 PMID:29695942 PMID:30311386 PMID:31714438 PMID:32581362 PMID:32860008, PMID:14555303 RGD:11353869 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
G Hbq1b hemoglobin subunit theta 1B ISO ClinVar Annotator: match by term: alpha Thalassemia ClinVar PMID:538560 PMID:2318293 PMID:3191033 PMID:7910813 PMID:8781536 PMID:10602170 PMID:11017952 PMID:12393486 PMID:15650030 PMID:20154289 PMID:21599435 PMID:23590659 PMID:24025420 NCBI chr10:15,599,821...15,602,680
Ensembl chr10:15,600,220...15,600,858
JBrowse link
G Hbz hemoglobin subunit zeta ISO ClinVar Annotator: match by term: alpha Thalassemia ClinVar PMID:2566576 PMID:2986746 PMID:3191033 PMID:8460633 PMID:9099846 PMID:10602170 PMID:11017952 PMID:24025420 PMID:26114741 PMID:28791910 NCBI chr10:15,609,348...15,610,826
Ensembl chr10:15,609,358...15,610,826
JBrowse link
G Hp haptoglobin ISO RGD PMID:16760505 RGD:11041792 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
alpha thalassemia-X-linked intellectual disability syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atr ATR serine/threonine kinase ISO ClinVar Annotator: match by term: ATR-X-related syndrome ClinVar PMID:25741868 NCBI chr 8:103,673,578...103,770,886
Ensembl chr 8:103,673,411...103,770,947
JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome
ClinVar Annotator: match by term: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome
ClinVar Annotator: match by term: ATR-X syndrome
ClinVar Annotator: match by OMIM:301040
ClinVar Annotator: match by null
DNA:missense mutations:exons: c.6253C>T (p.R2085C), c.6254G>A (p.R2085H)(human)
DNA:missense mutations:exons: c.736C>T (p.R246C), c.736C>T (p.R246C)(human)
DNA:nonsense mutation:exon: c.109C>T (p.R37X)(human)
OMIM
ClinVar
PMID:1415255 PMID:3239563 PMID:3658675 PMID:6682021 PMID:7506096 PMID:7697714 PMID:7726225 PMID:8630485 PMID:8644709 PMID:8968741 PMID:9244431 PMID:9326931 PMID:9598720 PMID:10204841 PMID:10398237 PMID:10417298 PMID:10570185 PMID:10602370 PMID:10632111 PMID:10995512 PMID:11015451 PMID:11050622 PMID:12032728 PMID:12116232 PMID:12673795 PMID:12858175 PMID:15508018 PMID:15591283 PMID:16118346 PMID:16722615 PMID:16763962 PMID:16813605 PMID:16955409 PMID:17579672 PMID:18409179 PMID:18414213 PMID:19005673 PMID:20500465 PMID:21505078 PMID:21653732 PMID:22995991 PMID:23681356 PMID:24082139 PMID:24289169 PMID:24327140 PMID:24728327 PMID:24759409 PMID:24805811 PMID:25167861 PMID:25326635 PMID:25326637 PMID:25741868 PMID:26467025 PMID:28293299 PMID:28371197 PMID:28371217 PMID:28492530 PMID:28492532 PMID:28708303 PMID:29304373 PMID:29602769 PMID:29910053, PMID:24289169, PMID:24327140, PMID:24805811 RGD:9586030, RGD:9586029, RGD:9586027 NCBI chr  X:76,820,110...76,979,155
Ensembl chr  X:76,692,970...76,708,878
Ensembl chr  X:76,692,970...76,708,878
JBrowse link
Alpha-Thalassemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: Alpha-plus-thalassemia ClinVar PMID:11791872 NCBI chr10:15,589,364...15,590,207
Ensembl chr10:15,589,364...15,590,220
JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN RIO CLARO ClinVar PMID:10335985 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
alpha-thalassemia myelodysplasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Acquired hemoglobin H disease
ClinVar Annotator: match by OMIM:300448
OMIM
ClinVar
PMID:1415255 PMID:9326931 PMID:10398237 PMID:10417298 PMID:10570185 PMID:10602370 PMID:11015451 PMID:11050622 PMID:12032728 PMID:12116232 PMID:12673795 PMID:12858175 PMID:16118346 PMID:16722615 PMID:16813605 PMID:16955409 PMID:18409179 PMID:19005673 PMID:20500465 PMID:21653732 PMID:24289169 PMID:24327140 PMID:24805811 PMID:25741868 PMID:28371197 PMID:28371217 PMID:28492532 NCBI chr  X:76,820,110...76,979,155
Ensembl chr  X:76,692,970...76,708,878
Ensembl chr  X:76,692,970...76,708,878
JBrowse link
Alpha-Thalassemia-2, Nondeletional term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional ClinVar PMID:8237999 PMID:9029003 PMID:10569720 PMID:19636270 PMID:20147853 PMID:25342395 PMID:26467025 PMID:27173219 PMID:29749692 NCBI chr10:15,589,364...15,590,207
Ensembl chr10:15,589,364...15,590,220
JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional ClinVar PMID:2372512 PMID:4422784 PMID:8193381 PMID:8602995 PMID:21637442 PMID:26467025 NCBI chr10:15,577,249...15,577,977
Ensembl chr10:15,577,249...15,577,977
JBrowse link
AMME complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a6 collagen type IV alpha 6 chain ISO OMIM NCBI chr  X:112,405,647...112,768,337
Ensembl chr  X:112,405,647...112,473,822
JBrowse link
Anemia, Refractory, with Excess of Blasts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Birc5 baculoviral IAP repeat-containing 5 ISO RGD PMID:18426652 RGD:11038658 NCBI chr10:106,856,097...106,864,419
Ensembl chr10:106,856,097...106,864,413
JBrowse link
G C3 complement C3 disease_progression ISO RGD PMID:9741227 RGD:11041158 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Cfb complement factor B disease_progression ISO RGD PMID:9741227 RGD:11041158 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Tert telomerase reverse transcriptase ISO RGD PMID:18426652 RGD:11038658 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 disease_progression ISO RGD PMID:25200248 RGD:11038682 NCBI chr 2:238,719,389...238,802,975
Ensembl chr 2:238,720,835...238,803,024
JBrowse link
aplastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anapc2 anaphase promoting complex subunit 2 ISO protein:decreased expression:bone marrow (human) RGD PMID:28968996 RGD:14696669 NCBI chr 3:2,490,496...2,502,247
Ensembl chr 3:2,490,518...2,502,248
JBrowse link
G Cd40lg CD40 ligand ISO protein:decreased expression:serum (human) RGD PMID:22537155 RGD:11352267 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cd86 CD86 molecule ISO protein:increased expression:blood, dendritic cell (human) RGD PMID:21234821 RGD:11354968 NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:9885444 PMID:12221670 NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:1642096 PMID:9777751 PMID:10544668 PMID:10629575 PMID:15863969 PMID:16553037 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
G Ddx41 DEAD-box helicase 41 ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar NCBI chr17:9,631,925...9,637,317
Ensembl chr17:9,631,925...9,637,316
JBrowse link
G Dipk1a divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:25741868 NCBI chr14:2,789,699...2,860,354
Ensembl chr14:2,789,650...2,860,333
JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO DNA:missense mutations:exon:p.V105G, p.S121A (human) RGD PMID:26360549 RGD:11251733 NCBI chr  X:155,844,914...155,862,363
Ensembl chr  X:155,844,857...155,862,475
JBrowse link
G Ephx1 epoxide hydrolase 1 susceptibility
disease_progression
ISO DNA:missense mutation:exon:p.H139R (human)
DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human)
RGD PMID:21228718, PMID:26999617 RGD:11252118, RGD:11252120 NCBI chr13:99,271,390...99,300,580
Ensembl chr13:99,271,366...99,300,579
JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:CD34+ bone marrow cell
protein:decreased expression:plasma:
RGD PMID:7577642, PMID:11876982 RGD:11049159, RGD:11049449 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Faslg Fas ligand ISO RGD PMID:16212902 RGD:1582425 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Flt3lg Fms related receptor tyrosine kinase 3 ligand ISO protein:increased expression:serum,plasma: RGD PMID:7492765 RGD:11049505 NCBI chr 1:101,126,006...101,131,413
Ensembl chr 1:101,124,479...101,131,413
JBrowse link
G Gata2 GATA binding protein 2 ISO mRNA:decreased expression:CD34+ cell RGD PMID:11328281 RGD:11049519 NCBI chr 4:120,129,028...120,142,490
Ensembl chr 4:120,133,713...120,142,488
JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO mRNA:decreased expression:bone marrow cell: RGD PMID:17156408 RGD:11040507 NCBI chr 3:7,190,721...7,203,444
Ensembl chr 3:7,190,722...7,203,420
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO in male RGD PMID:16079101 RGD:10450858 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility
no_association
ISO RGD PMID:14681495, PMID:16227674 RGD:10450790, RGD:10450878 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Ifng interferon gamma susceptibility
treatment
ISO ClinVar Annotator: match by OMIM:609135
DNA:polymorphism: : 874A>T(human)
DNA:repeats,haplotype:intron: -2,353 A>T(human)
DNA:repeats:intron:
OMIM
ClinVar
PMID:18426658, PMID:20953611, PMID:15327519 RGD:10755710, RGD:10755690, RGD:10755688 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase severity IMP RGD PMID:7694680 RGD:12910751 NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
JBrowse link
G KitWs KIT proto-oncogene receptor tyrosine kinase; mutant 1 severity IMP RGD PMID:7694680 RGD:12910751
G Nbn nibrin ISO ClinVar Annotator: match by term: Aplastic anemia OMIM
ClinVar
PMID:11325820 PMID:14559852 PMID:15338273 PMID:16474176 PMID:16810201 PMID:17695489 PMID:17894553 PMID:17899368 PMID:18049891 PMID:18280732 PMID:19393249 PMID:19452044 PMID:19523210 PMID:19813148 PMID:19908051 PMID:21212067 PMID:21698754 PMID:22131123 PMID:22373003 PMID:23317186 PMID:23555315 PMID:24093751 PMID:24113799 PMID:24728327 PMID:24830725 PMID:25619955 PMID:25712764 PMID:25741868 PMID:26083025 PMID:26315354 PMID:26467025 PMID:26722329 PMID:27153395 PMID:27616075 PMID:27621404 PMID:28261280 PMID:28492532 PMID:29335925 PMID:30441849 PMID:32566746 NCBI chr 5:29,622,347...29,656,877
Ensembl chr 5:29,622,281...29,656,864
JBrowse link
G Prf1 perforin 1 ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar
OMIM
PMID:17311987 PMID:25741868 PMID:28492532 NCBI chr20:30,915,294...30,920,804
Ensembl chr20:30,915,213...30,921,382
JBrowse link
G Rasa3 RAS p21 protein activator 3 ISS OMIM:609135 MouseDO NCBI chr16:81,320,090...81,434,239
Ensembl chr16:81,318,633...81,434,363
JBrowse link
G Rpl5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:25741868 NCBI chr14:2,860,963...2,867,397
Ensembl chr14:2,860,965...2,867,397
JBrowse link
G RT1-Ba RT1 class II, locus Ba treatment ISO DNA:polymorphism, haplotype RGD PMID:12070003, PMID:7994040 RGD:11041765, RGD:11041775 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb severity
treatment
ISO DNA:polymorphism, haplotype RGD PMID:24979673, PMID:7994040, PMID:12070003 RGD:11041757, RGD:11041775, RGD:11041765 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G Sbds SBDS, ribosome maturation factor ISO ClinVar Annotator: match by term: Aplastic anemia, susceptibility to OMIM
ClinVar
PMID:10393609 PMID:10556188 PMID:11553003 PMID:12496757 PMID:14749921 PMID:14984468 PMID:15769891 PMID:15860664 PMID:15942154 PMID:16047374 PMID:17478638 PMID:19148133 PMID:21536732 PMID:21695142 PMID:22191555 PMID:22934832 PMID:22935661 PMID:23351992 PMID:24033266 PMID:24388329 PMID:24629175 PMID:25525159 PMID:25741868 PMID:26822237 PMID:32581362 NCBI chr12:29,921,443...29,930,602
Ensembl chr12:29,921,443...29,930,600
JBrowse link
G Terc telomerase RNA component ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:12090986 PMID:12676774 PMID:12972604 PMID:15082312 PMID:15098033 PMID:15319288 PMID:15550482 PMID:17640862 PMID:19095616 PMID:19835419 PMID:20022961 PMID:21844345 PMID:22341970 PMID:24033266 PMID:25612863 PMID:28492532 NCBI chr 2:116,432,723...116,433,110
Ensembl chr 2:116,432,691...116,433,110
JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by OMIM:609135
ClinVar Annotator: match by term: Aplastic anemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12167716 PMID:15814878 PMID:15885610 PMID:16627250 PMID:17460043 PMID:18042801 PMID:18635888 PMID:18753630 PMID:18931339 PMID:19147845 PMID:19561322 PMID:19674077 PMID:19760749 PMID:19796246 PMID:20858879 PMID:20966039 PMID:21258621 PMID:21520173 PMID:21602826 PMID:21635204 PMID:22424236 PMID:22476886 PMID:23538340 PMID:23716176 PMID:23901009 PMID:24033266 PMID:24983628 PMID:25108601 PMID:25741868 PMID:25785092 PMID:26024875 PMID:26360549 PMID:26365799 PMID:28154186 PMID:28492532 PMID:28677271 PMID:28813500 PMID:30426156, PMID:23336163 RGD:11038668 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
G Tgfb1 transforming growth factor, beta 1 susceptibility
severity
ISO DNA:polymorphism: :509C>T(human)
protein:decreased expression: :
RGD PMID:24362456, PMID:24028718 RGD:11073601, RGD:11073606 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Thpo thrombopoietin no_association ISO DNA:SNPs:exons:
DNA:mutation:cds:c.112C>T(human)
RGD PMID:22686250, PMID:24085763 RGD:11073679, RGD:11073680 NCBI chr11:82,845,676...82,853,439
Ensembl chr11:83,868,655...83,873,910
Ensembl chr11:83,868,655...83,873,910
JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar NCBI chr15:34,358,697...34,365,085
Ensembl chr15:34,360,974...34,364,081
JBrowse link
G Tnf tumor necrosis factor ISO DNA:SNP:promoter:-308G>A (human) RGD PMID:12941546 RGD:10449452 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
atypical hemolytic-uremic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO protein:decreased activity:serum (human) RGD PMID:12640381 RGD:10449096 NCBI chr 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
JBrowse link
G Baat bile acid CoA:amino acid N-acyltransferase ISO ClinVar Annotator: match by term: atypical hemolytic uremic syndrome ClinVar NCBI chr 5:64,768,397...64,777,368
Ensembl chr 5:64,768,401...64,777,368
JBrowse link
G C2 complement C2 ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
ClinVar PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 PMID:18806293 PMID:20108004 PMID:20513133 PMID:21541267 PMID:22440158 PMID:24033266 PMID:24652797 PMID:25741868 NCBI chr20:4,542,340...4,561,152
Ensembl chr20:4,542,340...4,561,152
JBrowse link
G C3 complement C3 susceptibility ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:612925
DNA:missense mutations: :p.F603V, p.R1042L, p.I1157T (human)
ClinVar
CTD
OMIM
PMID:1976733 PMID:14639503 PMID:17634448 PMID:18325906 PMID:18796626 PMID:19168221 PMID:20301541 PMID:20595690 PMID:23314101 PMID:23431077 PMID:24036949 PMID:24036950 PMID:24036952 PMID:24736606 PMID:24845532 PMID:25608561 PMID:25741868 PMID:25951460 PMID:26613027 PMID:28492532, PMID:17517971, PMID:20513133 RGD:7364995, RGD:11040768 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 ClinVar NCBI chr 4:155,681,767...155,691,240
Ensembl chr 4:155,684,029...155,690,869
JBrowse link
G Cd46 CD46 molecule susceptibility
severity
ISO ClinVar Annotator: match by OMIM:612922
ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
protein:increased expression:peripheral blood mononuclear cell (human)
DNA:snp:intron:c.IVS8+23T>G (rs2724374) (human)
DNA:missense mutations:cds:p.R69W, p.A304V (human)
DNA:mutations:cds:multiple (human)
ClinVar
OMIM
CTD
PMID:270646 PMID:3480783 PMID:9551389 PMID:10528197 PMID:14566051 PMID:14615110 PMID:16621965 PMID:16762990 PMID:16882452 PMID:17089378 PMID:20513133 PMID:21706448 PMID:23431077 PMID:23731345 PMID:24033266 PMID:24161037 PMID:24247905 PMID:24944786 PMID:25381125 PMID:25525159 PMID:25741868 PMID:25899302 PMID:26054645 PMID:26307634 PMID:26559391 PMID:28056875 PMID:28492532, PMID:16353080, PMID:20513133, PMID:17914026, PMID:20595690 RGD:11352810, RGD:11040768, RGD:11352768, RGD:11038684 NCBI chr13:113,786,525...113,818,741
Ensembl chr13:113,787,349...113,817,995
JBrowse link
G Cfb complement factor B susceptibility ISO DNA, protein:mutations:cds: c.858C>G, F286L, c.967A>G, K323E (human)
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations: :multiple
ClinVar Annotator: match by OMIM:612924
ClinVar
OMIM
CTD
PMID:2249879 PMID:6308626 PMID:7452889 PMID:8181962 PMID:15661753 PMID:16518403 PMID:16936732 PMID:17182750 PMID:18806293 PMID:20108004 PMID:20513133 PMID:21541267 PMID:22440158 PMID:23847193 PMID:24033266 PMID:24652797 PMID:25741868 PMID:26054779, PMID:17182750, PMID:20513133 RGD:7242707, RGD:11040768 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Cfh complement factor H susceptibility ISO
IMP
DNA:missense mutation
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations, missense mutations, splice-site mutation: :multiple
ClinVar Annotator: match by OMIM:235400
DNA:deletion:Cds:
DNA:SNPs,Haplotype::
ClinVar
OMIM
CTD
PMID:646435 PMID:8072530 PMID:9551389 PMID:9811382 PMID:9848786 PMID:10577907 PMID:10762557 PMID:11158219 PMID:11170895 PMID:11170896 PMID:11978762 PMID:12424708 PMID:12697737 PMID:14978182 PMID:15761120 PMID:15870199 PMID:16299065 PMID:16619239 PMID:17018561 PMID:17947292 PMID:18252712 PMID:18268093 PMID:18557729 PMID:19190809 PMID:19259132 PMID:19297022 PMID:21415311 PMID:21909106 PMID:22019782 PMID:22171659 PMID:22223606 PMID:22389686 PMID:22403278 PMID:22456601 PMID:23852337 PMID:24036949 PMID:24498017 PMID:25037630 PMID:25741868 PMID:25814826 PMID:25880396 PMID:26559391 PMID:28492532, PMID:10577907, PMID:9811382, PMID:23243267, PMID:20513133, PMID:17517971, PMID:17517971, PMID:17517971 RGD:1599886, RGD:11041172, RGD:11041162, RGD:11040768, RGD:7364995, RGD:7364995, RGD:7364995 NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
JBrowse link
G Cfhr1 complement factor H-related 1 susceptibility ISO ClinVar Annotator: match by OMIM:235400
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to
DNA:deletion
ClinVar
CTD
OMIM
PMID:16998489 PMID:17367211 PMID:18006700 PMID:20843825, PMID:23243267 RGD:11041162 NCBI chr13:56,862,666...56,877,650
Ensembl chr13:56,836,994...56,877,650
JBrowse link
G Cfi complement factor I susceptibility ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:612923
ClinVar
CTD
OMIM
PMID:15173250 PMID:16621965 PMID:18557729 PMID:18825487 PMID:19877009 PMID:20016463 PMID:20106822 PMID:20203157 PMID:20513133 PMID:20595690 PMID:22710145 PMID:23307876 PMID:23314101 PMID:23431077 PMID:23685748 PMID:23787556 PMID:24033266 PMID:24034049 PMID:24036952 PMID:24161037 PMID:25037630 PMID:25135378 PMID:25741868 PMID:25758434 PMID:27268256 PMID:28282489 PMID:28492532, PMID:15173250 RGD:6906889 NCBI chr 2:235,264,149...235,305,779
Ensembl chr 2:235,264,219...235,305,781
JBrowse link
G Dgke diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 7
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: atypical hemolytic-uremic syndrome
ClinVar
CTD
PMID:23542698 PMID:24511134 PMID:24747643 PMID:25741868 PMID:29590070 PMID:30311386 NCBI chr10:76,375,981...76,408,224
Ensembl chr10:76,386,471...76,407,989
JBrowse link
G RGD1564614 similar to complement factor H-related protein susceptibility ISO ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to
ClinVar
CTD
OMIM
PMID:16998489 PMID:17367211 PMID:18006700 PMID:20843825 NCBI chr13:56,889,669...56,958,549
Ensembl chr13:56,889,669...56,958,561
JBrowse link
G Thbd thrombomodulin susceptibility
no_association
severity
ISO ClinVar Annotator: match by OMIM:612926
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
DNA:SNPs:5' utr, 3' utr:multiple
DNA:missense mutations:CDS:multiple
ClinVar
OMIM
CTD
PMID:7811989 PMID:10460600 PMID:11986219 PMID:12139752 PMID:17677000 PMID:19625716 PMID:23332921 PMID:24933457 PMID:25135378 PMID:25741868 PMID:28492532, PMID:19625716, PMID:19625716, PMID:20595690 RGD:11038691, RGD:11038691, RGD:11038684 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
autoimmune hemolytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:polymorphism:exon:49G>A(p.T17A)(human) RGD PMID:12555221 RGD:11352242 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO RGD PMID:18209093, PMID:9834201 RGD:11040887, RGD:11054970 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:12093879 RGD:11049457 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Slc14a1 solute carrier family 14 member 1 (Kidd blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:6427987 NCBI chr18:74,461,064...74,504,475
Ensembl chr18:74,461,055...74,485,139
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO RGD PMID:8325343 RGD:10450476 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: Autoimmune hemolytic anemia ClinVar NCBI chr10:4,956,795...4,958,472
Ensembl chr10:4,957,326...4,958,461
JBrowse link
G Tslp thymic stromal lymphopoietin ISS OMIM:205700 MouseDO NCBI chr18:25,613,601...25,618,066
Ensembl chr18:25,613,831...25,617,361
JBrowse link
autosomal dominant beta thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, CONGENITAL, IRISH OR WEATHERALL TYPE
ClinVar Annotator: match by term: Beta-thalassemia, dominant inclusion body type
ClinVar Annotator: match by OMIM:603902
OMIM
ClinVar
PMID:49057 PMID:81926 PMID:88735 PMID:909565 PMID:1301203 PMID:1353069 PMID:1376298 PMID:1390250 PMID:1427786 PMID:1428943 PMID:1463768 PMID:1483699 PMID:1517108 PMID:1634236 PMID:1634368 PMID:1734721 PMID:1740317 PMID:1769663 PMID:1802884 PMID:1814858 PMID:1917531 PMID:1967205 PMID:1971109 PMID:1986365 PMID:1986379 PMID:2004023 PMID:2014803 PMID:2123063 PMID:2200760 PMID:2207008 PMID:2296310 PMID:2298457 PMID:2446680 PMID:2458145 PMID:2467892 PMID:2563949 PMID:2577233 PMID:2579336 PMID:2582106 PMID:2713503 PMID:2867271 PMID:2875755 PMID:2888754 PMID:2891298 PMID:2893541 PMID:2898142 PMID:2898460 PMID:2898955 PMID:2903765 PMID:3014870 PMID:3021607 PMID:3048433 PMID:3170235 PMID:3354556 PMID:3417300 PMID:3422218 PMID:3457470 PMID:3462712 PMID:3690667 PMID:3752087 PMID:3821796 PMID:3957690 PMID:4129558 PMID:4232783 PMID:4351905 PMID:4361439 PMID:6019668 PMID:6162860 PMID:6188062 PMID:6189507 PMID:6190800 PMID:6264391 PMID:6264477 PMID:6268660 PMID:6270663 PMID:6272289 PMID:6280057 PMID:6285354 PMID:6304979 PMID:6434492 PMID:6457059 PMID:6583683 PMID:6583702 PMID:6584911 PMID:6585831 PMID:6714226 PMID:6896219 PMID:7151176 PMID:7312624 PMID:7522523 PMID:7558878 PMID:7632967 PMID:7668219 PMID:7993409 PMID:8095930 PMID:8161774 PMID:8199597 PMID:8330981 PMID:8373896 PMID:8435318 PMID:8462981 PMID:8602996 PMID:8619407 PMID:8917506 PMID:8978308 PMID:9048934 PMID:9101288 PMID:9140720 PMID:9163586 PMID:9401495 PMID:9490703 PMID:9859938 PMID:9875660 PMID:10335989 PMID:10367791 PMID:10602954 PMID:10612821 PMID:11545326 PMID:11559932 PMID:11741197 PMID:11830454 PMID:11857738 PMID:11857746 PMID:11880644 PMID:11939510 PMID:12124399 PMID:12144057 PMID:12368169 PMID:12764548 PMID:12779270 PMID:13066514 PMID:13115700 PMID:13369537 PMID:13464827 PMID:13852872 PMID:14576320 PMID:15108284 PMID:15654898 PMID:16001361 PMID:16291734 PMID:16311287 PMID:16470532 PMID:17287491 PMID:17331080 PMID:17365006 PMID:17932132 PMID:18048408 PMID:18192399 PMID:18294253 PMID:18603555 PMID:18654889 PMID:19000664 PMID:19061217 PMID:19254853 PMID:19372376 PMID:19437135 PMID:19460936 PMID:19758965 PMID:19958185 PMID:20132300 PMID:20233970 PMID:20301551 PMID:20301599 PMID:20305663 PMID:20395516 PMID:20412082 PMID:20437613 PMID:20492708 PMID:20532507 PMID:20642331 PMID:20704537 PMID:20861612 PMID:20954261 PMID:21119755 PMID:21131035 PMID:21228398 PMID:21232998 PMID:21302591 PMID:21389146 PMID:21417574 PMID:21529713 PMID:21797703 PMID:22010933 PMID:22028795 PMID:22074124 PMID:22075726 PMID:22180324 PMID:22271886 PMID:22335963 PMID:22392582 PMID:22625666 PMID:22975760 PMID:23162295 PMID:23234478 PMID:23321370 PMID:23348723 PMID:23425204 PMID:23590658 PMID:23637309 PMID:23647352 PMID:23729725 PMID:24033266 PMID:24080465 PMID:24265529 PMID:24450243 PMID:24493127 PMID:24828949 PMID:24857915 PMID:24880717 PMID:25023084 PMID:25023085 PMID:25087612 PMID:25089872 PMID:25113778 PMID:25155404 PMID:25332589 PMID:25408857 PMID:25525159 PMID:25572186 PMID:25741868 PMID:25849334 PMID:25856402 PMID:26029792 PMID:26076395 PMID:26076396 PMID:26079343 PMID:26097845 PMID:26193974 PMID:26275168 PMID:26372199 PMID:26436569 PMID:26467025 PMID:26877226 PMID:26901597 PMID:26948378 PMID:26956563 PMID:27263053 PMID:27427187 PMID:27690257 PMID:27756326 PMID:27821015 PMID:28356267 PMID:28366028 PMID:28385923 PMID:28391758 PMID:28492532 PMID:28635337 PMID:28670940 PMID:29695942 PMID:30311386 PMID:31714438 PMID:32581362 PMID:32860008 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
autosomal dominant sideroblastic anemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspa9 heat shock protein family A (Hsp70) member 9 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, autosomal dominant ClinVar
OMIM
PMID:3653362 PMID:26491070 NCBI chr18:27,731,072...27,749,235
Ensembl chr18:27,731,072...27,749,235
JBrowse link
autosomal recessive pyridoxine-refractory sideroblastic anemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glrx5 glutaredoxin 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:128,750,503...128,760,880
Ensembl chr 6:128,750,795...128,760,880
JBrowse link
G Slc25a38 solute carrier family 25, member 38 ISO ClinVar Annotator: match by term: Sideroblastic anemia pyridoxine-refractory autosomal recessive
ClinVar Annotator: match by term: Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
ClinVar Annotator: match by OMIM:205950
OMIM
ClinVar
PMID:19412178 PMID:21393332 PMID:25326635 PMID:25741868 PMID:25985931 PMID:28492532 NCBI chr 8:128,790,348...128,802,988
Ensembl chr 8:128,790,348...128,802,989
JBrowse link
autosomal recessive pyridoxine-refractory sideroblastic anemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glrx5 glutaredoxin 5 ISO ClinVar Annotator: match by term: Sideroblastic anemia 3, pyridoxine-refractory ClinVar
OMIM
PMID:17485548 PMID:20364084 PMID:25342667 PMID:26100117 PMID:30660387 NCBI chr 6:128,750,503...128,760,880
Ensembl chr 6:128,750,795...128,760,880
JBrowse link
Autosomal Sideroblastic Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Autosomal recessive sideroblastic anemia ClinVar PMID:25741868 NCBI chr 7:130,446,644...130,452,632
Ensembl chr 7:130,446,668...130,451,283
JBrowse link
Banti's Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO protein:increased expression:serum (human) RGD PMID:21290180 RGD:25671452 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Itgb3 integrin subunit beta 3 ISO DNA:missense mutation: :p.L33P (human) RGD PMID:18685811 RGD:10755472 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) RGD PMID:18685811 RGD:10755472 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO DNA:polymorphism:promoter: RGD PMID:18685811 RGD:10755472 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
beta thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc6 ATP binding cassette subfamily C member 6 ISO mRNA, protein:decreased expression:liver RGD PMID:21281810 RGD:11038787 NCBI chr 1:101,954,786...102,013,252
Ensembl chr 1:101,959,540...102,013,243
JBrowse link
G Apob apolipoprotein B ISO protein:decreased expression:plasma (human) RGD PMID:9180253 RGD:11354944 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Apoe apolipoprotein E ISO RGD PMID:22705320 RGD:11039491 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Bcl11a BAF chromatin remodeling complex subunit BCL11A severity
treatment
ISO DNA:snps:intron:c. 386-24002G>T, c.386-24278G>A (rs766432, rs11886868) (human)
DNA:snp:intron:c.386-17267T>C (rs10189857) (human)
DNA:snp, haplotype:intron:c.386-24983T>C (rs4671393) (human)
RGD PMID:23541515, PMID:25574177, PMID:25751242, PMID:22258351 RGD:11099969, RGD:11100011, RGD:11100008, RGD:11100005 NCBI chr14:108,826,717...108,921,197
Ensembl chr14:108,826,831...108,921,669
JBrowse link
G Cacna1h calcium voltage-gated channel subunit alpha1 H ISO CTD Direct Evidence: marker/mechanism CTD PMID:31542421 NCBI chr10:14,730,932...14,789,201
Ensembl chr10:14,730,941...14,788,617
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 6:26,657,507...26,680,459
Ensembl chr 6:26,657,780...26,680,284
JBrowse link
G Cfb complement factor B ISO protein:decreased expression:serum RGD PMID:6914868 RGD:11041572 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO DNA:SNP RGD PMID:12803121 RGD:11041179 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr19:42,066,103...42,087,906
Ensembl chr19:42,066,351...42,082,012
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:16225658 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G Gata1 GATA binding protein 1 treatment ISO RGD PMID:16696909 RGD:10450613 NCBI chr  X:15,273,937...15,281,759
Ensembl chr  X:15,378,789...15,382,066
JBrowse link
G Gh1 growth hormone 1 treatment ISO RGD PMID:2045623 RGD:11352730 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:decreased activity:erythrocyte: RGD PMID:20126808 RGD:11052141 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:deletion:: (human) RGD PMID:19838709 RGD:10755320 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Hamp hepcidin antimicrobial peptide treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:16755567, PMID:17299088, PMID:23905873 RGD:11041616, RGD:11041617 NCBI chr 1:89,368,021...89,369,960
Ensembl chr 1:89,368,021...89,369,960
JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: HEMOGLOBIN Q (INDIA) ClinVar PMID:949043 PMID:4646552 PMID:7803274 PMID:21045395 PMID:25354131 PMID:26467025 PMID:27207683 PMID:28526955 NCBI chr10:15,589,364...15,590,207
Ensembl chr10:15,589,364...15,590,220
JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17292142 NCBI chr10:15,577,249...15,577,977
Ensembl chr10:15,577,249...15,577,977
JBrowse link
G Hbb hemoglobin subunit beta treatment ISO DNA:nonsense mutation:CDS:168C>T, p.Q39X (human)
ClinVar Annotator: match by term: beta Thalassemia
ClinVar Annotator: match by term: beta^0^ Thalassemia
ClinVar Annotator: match by term: HEMOGLOBIN DURHAM-N.C.
ClinVar Annotator: match by term: HEMOGLOBIN SAKI
ClinVar Annotator: match by term: HEMOGLOBIN HOFU
ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON)
ClinVar Annotator: match by term: HEMOGLOBIN AGENOGI
ClinVar Annotator: match by term: Beta-thalassemia dominant
ClinVar Annotator: match by term: Beta-Houston-thalassemia
ClinVar Annotator: match by term: Beta thalassemia major
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:613985
DNA:nonsense mutation, haplotypes: :p.Q39X (human)
DNA:mutations, haplotypes: :multiple
ClinVar
CTD
OMIM
PMID:14973 PMID:49057 PMID:81926 PMID:88735 PMID:237566 PMID:287080 PMID:291719 PMID:429843 PMID:457425 PMID:640855 PMID:700140 PMID:711920 PMID:721611 PMID:721614 PMID:750553 PMID:750554 PMID:893136 PMID:909565 PMID:932531 PMID:998617 PMID:1052173 PMID:1112610 PMID:1163074 PMID:1177278 PMID:1244906 PMID:1301199 PMID:1301203 PMID:1301930 PMID:1301952 PMID:1353069 PMID:1374896 PMID:1376298 PMID:1384315 PMID:1390250 PMID:1398296 PMID:1420507 PMID:1427786 PMID:1428943 PMID:1428944 PMID:1428946 PMID:1428947 PMID:1463768 PMID:1483699 PMID:1487424 PMID:1511973 PMID:1515453 PMID:1515649 PMID:1517107 PMID:1517108 PMID:1517110 PMID:1517111 PMID:1520612 PMID:1536956 PMID:1545796 PMID:1550780 PMID:1577489 PMID:1581247 PMID:1586746 PMID:1610915 PMID:1634236 PMID:1634366 PMID:1634368 PMID:1680789 PMID:1686262 PMID:1698102 PMID:1705411 PMID:1709134 PMID:1716997 PMID:1719807 PMID:1728311 PMID:1729892 PMID:1732017 PMID:1734721 PMID:1740317 PMID:1769663 PMID:1772786 PMID:1777603 PMID:1787101 PMID:1802884 PMID:1814858 PMID:1850955 PMID:1856830 PMID:1873227 PMID:1897518 PMID:1917531 PMID:1951306 PMID:1954392 PMID:1960615 PMID:1971109 PMID:1974422 PMID:1986365 PMID:1986379 PMID:1995096 PMID:2001456 PMID:2004023 PMID:2005117 PMID:2014803 PMID:2018842 PMID:2043469 PMID:2070092 PMID:2071159 PMID:2079434 PMID:2079437 PMID:2120891 PMID:2123063 PMID:2197725 PMID:2200760 PMID:2200762 PMID:2207008 PMID:2239966 PMID:2265836 PMID:2272839 PMID:2272840 PMID:2283297 PMID:2283299 PMID:2283303 PMID:2291577 PMID:2296310 PMID:2298457 PMID:2298920 PMID:2306523 PMID:2307460 PMID:2310691 PMID:2346726 PMID:2375910 PMID:2375912 PMID:2393018 PMID:2393712 PMID:2399911 PMID:2412200 PMID:2424301 PMID:2430648 PMID:2434529 PMID:2439149 PMID:2440502 PMID:2446680 PMID:2456798 PMID:2458145 PMID:2467892 PMID:2525253 PMID:2539344 PMID:2542242 PMID:2563949 PMID:2577233 PMID:2579336 PMID:2582106 PMID:2606727 PMID:2634667 PMID:2634674 PMID:2665856 PMID:2703241 PMID:2703363 PMID:2703366 PMID:2703368 PMID:2713503 PMID:2730955 PMID:2736244 PMID:2741940 PMID:2753736 PMID:2775294 PMID:2804366 PMID:2822177 PMID:2837728 PMID:2867271 PMID:2875755 PMID:2887538 PMID:2888754 PMID:2891298 PMID:2893541 PMID:2895770 PMID:2897787 PMID:2898142 PMID:2898460 PMID:2898955 PMID:2901867 PMID:2903765 PMID:2915972 PMID:2917118 PMID:2917193 PMID:2920213 PMID:2920214 PMID:2921044 PMID:2987224 PMID:2987809 PMID:3002527 PMID:3006832 PMID:3014870 PMID:3021139 PMID:3021607 PMID:3024968 PMID:3031297 PMID:3048433 PMID:3114175 PMID:3115700 PMID:3170235 PMID:3354556 PMID:3382401 PMID:3387213 PMID:3403716 PMID:3408672 PMID:3417300 PMID:3422218 PMID:3446652 PMID:3457470 PMID:3462712 PMID:3557993 PMID:3557998 PMID:3623977 PMID:3671081 PMID:3683554 PMID:3689700 PMID:3690667 PMID:3752087 PMID:3780671 PMID:3821796 PMID:3828533 PMID:3840039 PMID:3859465 PMID:3923770 PMID:3942130 PMID:3955238 PMID:3957690 PMID:3957694 PMID:4018033 PMID:4078867 PMID:4129558 PMID:4232783 PMID:4351905 PMID:4361439 PMID:4413625 PMID:4512457 PMID:4808644 PMID:4991321 PMID:5050915 PMID:5097135 PMID:5129589 PMID:5481775 PMID:5609824 PMID:5619995 PMID:5634912 PMID:5658717 PMID:5672850 PMID:5791015 PMID:5851873 PMID:5856115 PMID:5863839 PMID:5915974 PMID:5925329 PMID:5972415 PMID:5996551 PMID:6019668 PMID:6021187 PMID:6033745 PMID:6054484 PMID:6086605 PMID:6089938 PMID:6101206 PMID:6162860 PMID:6166632 PMID:6188062 PMID:6189507 PMID:6190800 PMID:6198908 PMID:6246994 PMID:6248489 PMID:6251466 PMID:6268660 PMID:6270663 PMID:6272289 PMID:6275383 PMID:6280057 PMID:6280138 PMID:6285354 PMID:6292840 PMID:6298782 PMID:6304979 PMID:6308558 PMID:6310991 PMID:6316272 PMID:6318797 PMID:6322284 PMID:6434492 PMID:6457059 PMID:6469698 PMID:6500990 PMID:6572978 PMID:6583683 PMID:6583702 PMID:6584911 PMID:6585381 PMID:6585831 PMID:6646217 PMID:6664996 PMID:6668188 PMID:6695908 PMID:6714226 PMID:6733281 PMID:6826539 PMID:6852251 PMID:6859036 PMID:6896219 PMID:6985481 PMID:7076659 PMID:7104238 PMID:7137165 PMID:7151176 PMID:7173395 PMID:7177196 PMID:7204093 PMID:7204096 PMID:7204097 PMID:7229029 PMID:7338475 PMID:7395858 PMID:7507641 PMID:7522523 PMID:7530406 PMID:7558874 PMID:7558878 PMID:7558879 PMID:7599641 PMID:7615400 PMID:7632967 PMID:7655036 PMID:7663000 PMID:7668219 PMID:7668221 PMID:7669681 PMID:7683931 PMID:7713749 PMID:7759073 PMID:7794779 PMID:7795641 PMID:7819068 PMID:7852087 PMID:7864023 PMID:7899267 PMID:7908281 PMID:7909640 PMID:7928376 PMID:7993409 PMID:8019567 PMID:8037185 PMID:8037197 PMID:8081396 PMID:8091935 PMID:8094943 PMID:8095930 PMID:8111050 PMID:8112743 PMID:8144356 PMID:8144358 PMID:8161774 PMID:8172199 PMID:8199027 PMID:8199597 PMID:8201467 PMID:8225319 PMID:8226099 PMID:8251381 PMID:8257991 PMID:8262525 PMID:8270260 PMID:8318995 PMID:8330972 PMID:8330981 PMID:8338769 PMID:8373896 PMID:8435318 PMID:8438884 PMID:8462981 PMID:8477263 PMID:8485062 PMID:8518184 PMID:8537236 PMID:8562944 PMID:8602996 PMID:8619407 PMID:8629112 PMID:8638609 PMID:8682512 PMID:8703815 PMID:8718699 PMID:8718703 PMID:8839873 PMID:8856098 PMID:8874232 PMID:8889595 PMID:8917506 PMID:8952150 PMID:8978308 PMID:8980256 PMID:9028819 PMID:9028827 PMID:9048934 PMID:9101282 PMID:9101288 PMID:9113933 PMID:9140720 PMID:9160698 PMID:9163586 PMID:9223924 PMID:9225979 PMID:9340427 PMID:9342003 PMID:9353871 PMID:9371531 PMID:9401495 PMID:9415845 PMID:9427726 PMID:9450794 PMID:9490703 PMID:9494052 PMID:9494053 PMID:9495372 PMID:9556665 PMID:9560205 PMID:9629504 PMID:9653159 PMID:9730368 PMID:9792288 PMID:9834244 PMID:9845707 PMID:9859938 PMID:9875660 PMID:9949622 PMID:10081986 PMID:10203101 PMID:10233364 PMID:10335988 PMID:10335989 PMID:10367791 PMID:10520021 PMID:10569722 PMID:10583251 PMID:10602954 PMID:10606872 PMID:10612821 PMID:10706767 PMID:10756381 PMID:10776695 PMID:10815781 PMID:10840054 PMID:10861818 PMID:10870887 PMID:10997336 PMID:11001883 PMID:11179419 PMID:11186262 PMID:11186264 PMID:11300343 PMID:11300348 PMID:11300352 PMID:11425418 PMID:11480785 PMID:11532628 PMID:11545326 PMID:11559932 PMID:11570721 PMID:11713529 PMID:11722417 PMID:11741197 PMID:11791873 PMID:11791874 PMID:11791878 PMID:11830454 PMID:11857738 PMID:11857746 PMID:11880644 PMID:11939510 PMID:11939518 PMID:12000828 PMID:12124399 PMID:12144056 PMID:12144057 PMID:12144066 PMID:12149194 PMID:12172041 PMID:12189174 PMID:12210807 PMID:12324499 PMID:12353305 PMID:12368169 PMID:12383672 PMID:12403488 PMID:12403491 PMID:12403498 PMID:12430907 PMID:12488606 PMID:12508270 PMID:12709369 PMID:12752111 PMID:12764548 PMID:12779270 PMID:12779277 PMID:12850492 PMID:12885342 PMID:12908806 PMID:12955718 PMID:13066514 PMID:13108995 PMID:13115700 PMID:13369537 PMID:13464827 PMID:13509426 PMID:13590135 PMID:13618691 PMID:13634986 PMID:13685866 PMID:13716727 PMID:13716853 PMID:13852872 PMID:13872094 PMID:13897827 PMID:13911805 PMID:14081243 PMID:14160125 PMID:14282052 PMID:14343445 PMID:14405428 PMID:14452533 PMID:14492555 PMID:14555318 PMID:14576320 PMID:14613965 PMID:14649318 PMID:14715623 PMID:14734204 PMID:14808148 PMID:15000665 PMID:15008262 PMID:15008267 PMID:15009072 PMID:15108284 PMID:15114532 PMID:15153712 PMID:15181845 PMID:15257926 PMID:15278762 PMID:15315794 PMID:15470211 PMID:15481884 PMID:15481885 PMID:15481886 PMID:15481893 PMID:15481896 PMID:15641237 PMID:15654898 PMID:15658184 PMID:15658193 PMID:15697092 PMID:15761692 PMID:15768552 PMID:15929117 PMID:15933066 PMID:15973412 PMID:16001361 PMID:16044458 PMID:16103715 PMID:16114182 PMID:16114184 PMID:16114187 PMID:16126871 PMID:16175509 PMID:16178917 PMID:16225661 PMID:16266911 PMID:16291734 PMID:16311287 PMID:16370495 PMID:16466947 PMID:16470532 PMID:16540414 PMID:16540415 PMID:16732578 PMID:16750922 PMID:16755567 PMID:16821247 PMID:16987798 PMID:16987801 PMID:17007829 PMID:17008283 PMID:17018382 PMID:17145605 PMID:17278112 PMID:17287491 PMID:17331080 PMID:17365003 PMID:17365006 PMID:17486493 PMID:17486497 PMID:17486505 PMID:17565724 PMID:17598223 PMID:17606453 PMID:17654075 PMID:17655700 PMID:17768122 PMID:17774955 PMID:17900295 PMID:17932132 PMID:17949282 PMID:17994377 PMID:17994378 PMID:18024613 PMID:18048408 PMID:18056002 PMID:18076350 PMID:18081706 PMID:18096416 PMID:18105244 PMID:18192399 PMID:18266208 PMID:18294253 PMID:18339318 PMID:18403562 PMID:18473247 PMID:18473248 PMID:18495504 PMID:18523401 PMID:18568278 PMID:18591626 PMID:18603555 PMID:18619001 PMID:18654889 PMID:18694524 PMID:18818920 PMID:18829352 PMID:18932067 PMID:18932071 PMID:18954999 PMID:18976160 PMID:19000664 PMID:19061217 PMID:19092326 PMID:19103851 PMID:19125249 PMID:19205970 PMID:19205975 PMID:19254853 PMID:19372376 PMID:19429541 PMID:19437135 PMID:19440680 PMID:19460936 PMID:19486366 PMID:19488752 PMID:19631632 PMID:19657836 PMID:19657842 PMID:19727720 PMID:19758965 PMID:19841268 PMID:19843386 PMID:19958184 PMID:19958185 PMID:19960060 PMID:20035706 PMID:20110664 PMID:20113284 PMID:20113289 PMID:20113295 PMID:20113296 PMID:20132300 PMID:20181291 PMID:20230396 PMID:20233970 PMID:20301551 PMID:20301599 PMID:20305663 PMID:20324533 PMID:20353354 PMID:20395516 PMID:20406103 PMID:20412082 PMID:20437613 PMID:20492708 PMID:20524821 PMID:20532507 PMID:20642331 PMID:20642337 PMID:20704537 PMID:20737602 PMID:20788973 PMID:20854126 PMID:20861612 PMID:20954261 PMID:20975770 PMID:21119755 PMID:21131035 PMID:21194254 PMID:21194265 PMID:21228398 PMID:21232998 PMID:21250876 PMID:21250885 PMID:21302591 PMID:21333566 PMID:21389146 PMID:21417574 PMID:21423179 PMID:21509314 PMID:21529713 PMID:21599435 PMID:21704277 PMID:21732929 PMID:21797702 PMID:21797703 PMID:21801233 PMID:21845419 PMID:21879898 PMID:21892914 PMID:21931510 PMID:21978377 PMID:22010933 PMID:22028795 PMID:22074124 PMID:22075726 PMID:22109911 PMID:22110956 PMID:22122796 PMID:22145566 PMID:22180324 PMID:22188014 PMID:22200002 PMID:22233277 PMID:22239493 PMID:22260787 PMID:22271886 PMID:22335963 PMID:22356097 PMID:22392582 PMID:22409273 PMID:22563936 PMID:22625666 PMID:22675570 PMID:22690826 PMID:22734587 PMID:22738610 PMID:22738642 PMID:22851993 PMID:22875618 PMID:22896714 PMID:22898041 PMID:22975760 PMID:22981786 PMID:22983591 PMID:23001606 PMID:23106651 PMID:23162295 PMID:23234478 PMID:23297836 PMID:23321370 PMID:23348723 PMID:23362932 PMID:23383304 PMID:23398055 PMID:23425204 PMID:23457306 PMID:23510507 PMID:23525874 PMID:23586372 PMID:23590330 PMID:23590658 PMID:23606168 PMID:23637309 PMID:23647352 PMID:23651435 PMID:23665927 PMID:23729725 PMID:23806067 PMID:23812938 PMID:23859443 PMID:23878091 PMID:23889802 PMID:23975182 PMID:24033266 PMID:24052702 PMID:24052746 PMID:24055728 PMID:24065537 PMID:24080465 PMID:24086942 PMID:24099628 PMID:24200101 PMID:24200214 PMID:24245819 PMID:24265529 PMID:24368026 PMID:24369358 PMID:24401016 PMID:24450243 PMID:24493127 PMID:24581976 PMID:24616059 PMID:24616209 PMID:24682197 PMID:24719849 PMID:24744638 PMID:24754789 PMID:24814631 PMID:24828949 PMID:24857915 PMID:24880717 PMID:24986053 PMID:25000193 PMID:25016698 PMID:25023084 PMID:25023085 PMID:25087612 PMID:25089872 PMID:25113778 PMID:25130136 PMID:25135424 PMID:25155404 PMID:25244406 PMID:25268796 PMID:25332589 PMID:25370867 PMID:25408857 PMID:25412720 PMID:25469539 PMID:25480500 PMID:25525159 PMID:25525381 PMID:25541274 PMID:25572182 PMID:25572186 PMID:25572187 PMID:25617386 PMID:25657036 PMID:25666204 PMID:25669128 PMID:25677748 PMID:25682598 PMID:25741868 PMID:25754248 PMID:25762031 PMID:25806420 PMID:25818823 PMID:25825561 PMID:25849334 PMID:25856402 PMID:25905082 PMID:25910213 PMID:25976460 PMID:26029792 PMID:26041423 PMID:26044735 PMID:26076395 PMID:26076396 PMID:26079343 PMID:26084319 PMID:26096710 PMID:26097845 PMID:26182339 PMID:26193974 PMID:26202972 PMID:26275168 PMID:26290351 PMID:26291967 PMID:26351951 PMID:26372199 PMID:26372288 PMID:26402558 PMID:26410419 PMID:26418075 PMID:26436569 PMID:26467025 PMID:26524961 PMID:26554253 PMID:26554738 PMID:26554862 PMID:26594346 PMID:26635043 PMID:26715484 PMID:26850598 PMID:26877226 PMID:26901597 PMID:26948378 PMID:26956563 PMID:27117567 PMID:27117572 PMID:27207683 PMID:27251090 PMID:27258795 PMID:27263053 PMID:27339814 PMID:27351925 PMID:27408413 PMID:27427187 PMID:27453201 PMID:27492766 PMID:27535164 PMID:27690257 PMID:27718361 PMID:27756326 PMID:27765567 PMID:27785405 PMID:27821015 PMID:27828729 PMID:27829298 PMID:27848919 PMID:27981798 PMID:28125089 PMID:28276871 PMID:28356267 PMID:28366028 PMID:28379995 PMID:28385923 PMID:28391758 PMID:28460555 PMID:28475449 PMID:28492532 PMID:28503568 PMID:28603845 PMID:28635337 PMID:28643346 PMID:28670940 PMID:28670947 PMID:28671035 PMID:28680605 PMID:28768465 PMID:28794124 PMID:28800727 PMID:28865746 PMID:29157184 PMID:29171316 PMID:29182041 PMID:29188602 PMID:29251008 PMID:29313434 PMID:29484903 PMID:29695942 PMID:29893155 PMID:30047296 PMID:30173596 PMID:30311386 PMID:30422720 PMID:30489691 PMID:30626236 PMID:30843739 PMID:31108495 PMID:31240559 PMID:31395865 PMID:31714438 PMID:32581362 PMID:32860008, PMID:6457059, PMID:16631345, PMID:3033668, PMID:6280057 RGD:1600893, RGD:11353868, RGD:1600575, RGD:1600895 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
G Hbs1l HBS1-like translational GTPase ISO DNA:SNP:exon:32C>T (human) RGD PMID:18839276 RGD:11353877 NCBI chr 1:16,819,170...16,896,234
Ensembl chr 1:16,819,170...16,896,219
JBrowse link
G Hfe homeostatic iron regulator no_association ISO DNA:missense mutations: :p.H63D, p.S65C (human)
DNA:missense mutation: :p.C282Y (human)
RGD PMID:14703689, PMID:17160266, PMID:17160266 RGD:10755489, RGD:10755537, RGD:10755537 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Hp haptoglobin ISO RGD PMID:22885163 RGD:11041795 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:decreased expression:serum: RGD PMID:9666877 RGD:12743604 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Il1a interleukin 1 alpha ISO mRNA:decreased expression:blood, mononuclear cell RGD PMID:21576933 RGD:11051969 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:plasma RGD PMID:23905873 RGD:11041617 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Klf1 Kruppel like factor 1 ISS OMIM:187550 | OMIM:603902 | OMIM:613985 MouseDO NCBI chr19:26,016,289...26,019,557
Ensembl chr19:26,016,382...26,019,553
JBrowse link
G Lcn2 lipocalin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16755567 NCBI chr 3:11,414,189...11,417,534
Ensembl chr 3:11,414,186...11,417,546
JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:26608512 RGD:11552583 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO RGD PMID:12513847 RGD:11041746 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G Tert telomerase reverse transcriptase ISO mRNA:increased expression:bone marrow RGD PMID:18466174 RGD:11038664 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
G Tfr2 transferrin receptor 2 ISO mRNA:decreased expression:liver:
CTD Direct Evidence: marker/mechanism
CTD PMID:16755567, PMID:16755567 RGD:11062138 NCBI chr12:22,177,382...22,194,330
Ensembl chr12:22,177,382...22,194,299
JBrowse link
G Tfrc transferrin receptor ISO mRNA:increased expression:liver:
CTD Direct Evidence: marker/mechanism
CTD PMID:16755567, PMID:16755567 RGD:11062138 NCBI chr11:71,397,423...71,419,263
Ensembl chr11:71,397,383...71,419,223
JBrowse link
G Tnf tumor necrosis factor ISO DNA:polymorphisms:3' utr RGD PMID:19103526 RGD:10449458 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr11:70,034,181...70,044,590
Ensembl chr11:70,034,139...70,044,628
JBrowse link
beta-thalassemia intermedia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Beta thalassemia intermedia
ClinVar Annotator: match by term: Thalassemia intermedia
ClinVar PMID:291719 PMID:1301199 PMID:1463768 PMID:1586746 PMID:1634236 PMID:1917531 PMID:1954392 PMID:2200760 PMID:2310691 PMID:2375912 PMID:2399911 PMID:2446680 PMID:2458145 PMID:2634667 PMID:2634674 PMID:2837728 PMID:2917193 PMID:2920213 PMID:3002527 PMID:3446652 PMID:6188062 PMID:6280057 PMID:7507641 PMID:7530406 PMID:7599641 PMID:7655036 PMID:7794779 PMID:8037185 PMID:8111050 PMID:8438884 PMID:8477263 PMID:8874232 PMID:8980256 PMID:9028819 PMID:9101288 PMID:9140720 PMID:10870887 PMID:11300352 PMID:11532628 PMID:11809258 PMID:11857738 PMID:11857746 PMID:12144056 PMID:12324499 PMID:12709369 PMID:14555318 PMID:15658193 PMID:17007829 PMID:17145605 PMID:17365006 PMID:17606453 PMID:17994378 PMID:18076350 PMID:18294253 PMID:18339318 PMID:18603555 PMID:19103851 PMID:19460936 PMID:20437613 PMID:20704537 PMID:21119755 PMID:21228398 PMID:21845419 PMID:22975760 PMID:23525874 PMID:25087612 PMID:25155404 PMID:25370867 PMID:25480500 PMID:25617386 PMID:25825561 PMID:25910213 PMID:26029792 PMID:26041423 PMID:26467025 PMID:27263053 PMID:27756326 PMID:27828729 PMID:28125089 PMID:28276871 PMID:28385923 PMID:28492532 PMID:29893155 PMID:31240559 PMID:31395865 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
beta-thalassemia major term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Beta-plus-thalassemia
ClinVar Annotator: match by term: Cooley's anemia
ClinVar Annotator: match by term: Hemoglobin E
ClinVar Annotator: match by term: HEMOGLOBIN KNOSSOS
ClinVar Annotator: match by term: Hemoglobin E - beta-thalassemia
ClinVar Annotator: match by term: HEMOGLOBIN SHOWA-YAKUSHIJI
ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI
ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant
ClinVar PMID:14973 PMID:49057 PMID:81926 PMID:88735 PMID:291719 PMID:429843 PMID:700140 PMID:721609 PMID:721611 PMID:721614 PMID:750553 PMID:893136 PMID:909565 PMID:932531 PMID:1052173 PMID:1112610 PMID:1177278 PMID:1244906 PMID:1301203 PMID:1353069 PMID:1374896 PMID:1376298 PMID:1384315 PMID:1390250 PMID:1420507 PMID:1427786 PMID:1428944 PMID:1428947 PMID:1463768 PMID:1483699 PMID:1487424 PMID:1517108 PMID:1517111 PMID:1550780 PMID:1581247 PMID:1586746 PMID:1610915 PMID:1634236 PMID:1634366 PMID:1634368 PMID:1680789 PMID:1705411 PMID:1709134 PMID:1729892 PMID:1732017 PMID:1734721 PMID:1740317 PMID:1769663 PMID:1787101 PMID:1802884 PMID:1850955 PMID:1856830 PMID:1873227 PMID:1917531 PMID:1960615 PMID:1967205 PMID:1971109 PMID:1985702 PMID:1986365 PMID:1986379 PMID:2001456 PMID:2004023 PMID:2005117 PMID:2014803 PMID:2018842 PMID:2079437 PMID:2123063 PMID:2197725 PMID:2200760 PMID:2200762 PMID:2207008 PMID:2239966 PMID:2265836 PMID:2291577 PMID:2296310 PMID:2298457 PMID:2298920 PMID:2306523 PMID:2307460 PMID:2310691 PMID:2346726 PMID:2375910 PMID:2375912 PMID:2393018 PMID:2393712 PMID:2412200 PMID:2430648 PMID:2434529 PMID:2439149 PMID:2446680 PMID:2458145 PMID:2467892 PMID:2539344 PMID:2563949 PMID:2577233 PMID:2579336 PMID:2582106 PMID:2606727 PMID:2634667 PMID:2634674 PMID:2703241 PMID:2703363 PMID:2703366 PMID:2713503 PMID:2736244 PMID:2753736 PMID:2775294 PMID:2822177 PMID:2837728 PMID:2867271 PMID:2875755 PMID:2887538 PMID:2888754 PMID:2891298 PMID:2893541 PMID:2895770 PMID:2898142 PMID:2898460 PMID:2898955 PMID:2903765 PMID:2915972 PMID:2917193 PMID:2920213 PMID:2987224 PMID:2987809 PMID:3002527 PMID:3014870 PMID:3021139 PMID:3021607 PMID:3024968 PMID:3031297 PMID:3048433 PMID:3114175 PMID:3115700 PMID:3170235 PMID:3354556 PMID:3382401 PMID:3387213 PMID:3403716 PMID:3417300 PMID:3422218 PMID:3457470 PMID:3462712 PMID:3557993 PMID:3557998 PMID:3623977 PMID:3671081 PMID:3683554 PMID:3690667 PMID:3752087 PMID:3821796 PMID:3828533 PMID:3840039 PMID:3859465 PMID:3942130 PMID:3955238 PMID:3957690 PMID:4018033 PMID:4078867 PMID:4129558 PMID:4232783 PMID:4351905 PMID:4361439 PMID:4991321 PMID:5050915 PMID:5129589 PMID:5481775 PMID:5609824 PMID:5619995 PMID:5658717 PMID:5672850 PMID:5791015 PMID:5863839 PMID:5915974 PMID:6019668 PMID:6021187 PMID:6033745 PMID:6054484 PMID:6086605 PMID:6162860 PMID:6166632 PMID:6188062 PMID:6189507 PMID:6190800 PMID:6198908 PMID:6246994 PMID:6264391 PMID:6264477 PMID:6268660 PMID:6270663 PMID:6272289 PMID:6275383 PMID:6280057 PMID:6285354 PMID:6292840 PMID:6298782 PMID:6304979 PMID:6308558 PMID:6310991 PMID:6316272 PMID:6322284 PMID:6434492 PMID:6457059 PMID:6469698 PMID:6500990 PMID:6572978 PMID:6583683 PMID:6583702 PMID:6584911 PMID:6585381 PMID:6585831 PMID:6646217 PMID:6664996 PMID:6668188 PMID:6695908 PMID:6714226 PMID:6733281 PMID:6826539 PMID:6852251 PMID:6859036 PMID:6896219 PMID:6985481 PMID:7076659 PMID:7104238 PMID:7137165 PMID:7151176 PMID:7173395 PMID:7177196 PMID:7204096 PMID:7229029 PMID:7312624 PMID:7338475 PMID:7395858 PMID:7507641 PMID:7522523 PMID:7558878 PMID:7599641 PMID:7655036 PMID:7668219 PMID:7668221 PMID:7683931 PMID:7794779 PMID:7795641 PMID:7852087 PMID:7908281 PMID:7909640 PMID:7993409 PMID:8091935 PMID:8095930 PMID:8112743 PMID:8161774 PMID:8172199 PMID:8199027 PMID:8199597 PMID:8201467 PMID:8262525 PMID:8330981 PMID:8373896 PMID:8435318 PMID:8438884 PMID:8462981 PMID:8477263 PMID:8518184 PMID:8602996 PMID:8619407 PMID:8718703 PMID:8839873 PMID:8874232 PMID:8917506 PMID:8978308 PMID:8980256 PMID:9028827 PMID:9048934 PMID:9101288 PMID:9113933 PMID:9140720 PMID:9160698 PMID:9163586 PMID:9223924 PMID:9225979 PMID:9340427 PMID:9342003 PMID:9401495 PMID:9427726 PMID:9450794 PMID:9490703 PMID:9495372 PMID:9556665 PMID:9653159 PMID:9834244 PMID:9845707 PMID:9859938 PMID:9875660 PMID:9949622 PMID:10081986 PMID:10203101 PMID:10335989 PMID:10367791 PMID:10520021 PMID:10583251 PMID:10602954 PMID:10606872 PMID:10612821 PMID:10815781 PMID:10861818 PMID:11001883 PMID:11179419 PMID:11300348 PMID:11425418 PMID:11545326 PMID:11559932 PMID:11713529 PMID:11741197 PMID:11791878 PMID:11830454 PMID:11857738 PMID:11857746 PMID:11880644 PMID:11939510 PMID:12000828 PMID:12124399 PMID:12144056 PMID:12144057 PMID:12149194 PMID:12172041 PMID:12210807 PMID:12324499 PMID:12368169 PMID:12383672 PMID:12403491 PMID:12488606 PMID:12709369 PMID:12764548 PMID:12850492 PMID:12955718 PMID:13066514 PMID:13108995 PMID:13115700 PMID:13369537 PMID:13464827 PMID:13590135 PMID:13618691 PMID:13685866 PMID:13716853 PMID:13852872 PMID:13872094 PMID:14081243 PMID:14160125 PMID:14282052 PMID:14405428 PMID:14492555 PMID:14555318 PMID:14576320 PMID:14613965 PMID:14649318 PMID:14715623 PMID:14734204 PMID:14808148 PMID:15000665 PMID:15108284 PMID:15114532 PMID:15181845 PMID:15257926 PMID:15278762 PMID:15315794 PMID:15352994 PMID:15470211 PMID:15481886 PMID:15481893 PMID:15481896 PMID:15654898 PMID:15658184 PMID:15697092 PMID:15761692 PMID:15768552 PMID:15973412 PMID:16001361 PMID:16044458 PMID:16103715 PMID:16114182 PMID:16175509 PMID:16291734 PMID:16311287 PMID:16370495 PMID:16470532 PMID:16540414 PMID:16540415 PMID:16732578 PMID:16750922 PMID:16821247 PMID:17008283 PMID:17145605 PMID:17278112 PMID:17287491 PMID:17331080 PMID:17365006 PMID:17486493 PMID:17486505 PMID:17565724 PMID:17655700 PMID:17774955 PMID:17932132 PMID:17949282 PMID:17994378 PMID:18024613 PMID:18048408 PMID:18056002 PMID:18076350 PMID:18081706 PMID:18096416 PMID:18192399 PMID:18266208 PMID:18294253 PMID:18339318 PMID:18403562 PMID:18495504 PMID:18523401 PMID:18568278 PMID:18603555 PMID:18619001 PMID:18976160 PMID:19000664 PMID:19061217 PMID:19092326 PMID:19103851 PMID:19205970 PMID:19254853 PMID:19372376 PMID:19429541 PMID:19440680 PMID:19460936 PMID:19631632 PMID:19657836 PMID:19657842 PMID:19727720 PMID:19758965 PMID:19841268 PMID:19843386 PMID:19958184 PMID:19958185 PMID:19960060 PMID:20035706 PMID:20110664 PMID:20113284 PMID:20132300 PMID:20233970 PMID:20301551 PMID:20301599 PMID:20305663 PMID:20353354 PMID:20395516 PMID:20412082 PMID:20437613 PMID:20492708 PMID:20524821 PMID:20642331 PMID:20704537 PMID:20737602 PMID:20788973 PMID:20854126 PMID:20861612 PMID:20954261 PMID:21119755 PMID:21131035 PMID:21194254 PMID:21194265 PMID:21228398 PMID:21250876 PMID:21302591 PMID:21389146 PMID:21417574 PMID:21423179 PMID:21509314 PMID:21529713 PMID:21599435 PMID:21732929 PMID:21797702 PMID:21797703 PMID:21931510 PMID:22010933 PMID:22028795 PMID:22075726 PMID:22110956 PMID:22145566 PMID:22188014 PMID:22200002 PMID:22260787 PMID:22271886 PMID:22335963 PMID:22392582 PMID:22563936 PMID:22625666 PMID:22690826 PMID:22851993 PMID:22975760 PMID:23001606 PMID:23162295 PMID:23234478 PMID:23297836 PMID:23321370 PMID:23348723 PMID:23383304 PMID:23425204 PMID:23457306 PMID:23590658 PMID:23637309 PMID:23647352 PMID:23651435 PMID:23729725 PMID:23806067 PMID:24033266 PMID:24052702 PMID:24055728 PMID:24080465 PMID:24086942 PMID:24099628 PMID:24200214 PMID:24245819 PMID:24265529 PMID:24368026 PMID:24369358 PMID:24401016 PMID:24493127 PMID:24581976 PMID:24616059 PMID:24616209 PMID:24719849 PMID:24814631 PMID:24857915 PMID:24880717 PMID:25000193 PMID:25016698 PMID:25023084 PMID:25023085 PMID:25087612 PMID:25089872 PMID:25113778 PMID:25130136 PMID:25135424 PMID:25155404 PMID:25244406 PMID:25332589 PMID:25370867 PMID:25408857 PMID:25412720 PMID:25480500 PMID:25525159 PMID:25525381 PMID:25572186 PMID:25572187 PMID:25617386 PMID:25666204 PMID:25669128 PMID:25677748 PMID:25741868 PMID:25754248 PMID:25818823 PMID:25825561 PMID:25849334 PMID:25856402 PMID:25910213 PMID:25976460 PMID:26029792 PMID:26041423 PMID:26044735 PMID:26076395 PMID:26076396 PMID:26079343 PMID:26084319 PMID:26097845 PMID:26193974 PMID:26275168 PMID:26290351 PMID:26291967 PMID:26351951 PMID:26372199 PMID:26372288 PMID:26418075 PMID:26436569 PMID:26467025 PMID:26554253 PMID:26554862 PMID:26715484 PMID:26877226 PMID:26956563 PMID:27117567 PMID:27117572 PMID:27207683 PMID:27251090 PMID:27263053 PMID:27408413 PMID:27427187 PMID:27690257 PMID:27718361 PMID:27756326 PMID:27765567 PMID:27821015 PMID:27828729 PMID:27829298 PMID:28276871 PMID:28356267 PMID:28366028 PMID:28379995 PMID:28385923 PMID:28391758 PMID:28492532 PMID:28635337 PMID:28670940 PMID:28865746 PMID:29157184 PMID:29484903 PMID:29695942 PMID:29893155 PMID:30173596 PMID:30311386 PMID:31395865 PMID:31714438 PMID:32581362 PMID:32860008 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:plasma (human) RGD PMID:17617032 RGD:11553831 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
Bone Marrow Failure Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srp72 signal recognition particle 72 ISO ClinVar Annotator: match by OMIM:614675
ClinVar Annotator: match by term: Bone marrow failure syndrome 1
ClinVar
OMIM
PMID:22541560 PMID:25741868 PMID:28492532 NCBI chr14:33,447,583...33,453,788 JBrowse link
CD59 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd59 CD59 molecule ISO ClinVar Annotator: match by term: Cd59 deficiency
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:612300
OMIM
ClinVar
PMID:1382994 PMID:23149847 PMID:24382084 PMID:25741868 NCBI chr 3:94,010,481...94,028,660
Ensembl chr 3:94,010,475...94,028,621
JBrowse link
chromosome 5q deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klf1 Kruppel like factor 1 ISO mRNA:decreased expression:bone marrow, blood RGD PMID:22965552 RGD:10769343 NCBI chr19:26,016,289...26,019,557
Ensembl chr19:26,016,382...26,019,553
JBrowse link
G Rps14 ribosomal protein S14 ISO OMIM NCBI chr18:56,042,532...56,047,316
Ensembl chr18:56,044,369...56,047,316
JBrowse link
Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 ISO ClinVar Annotator: match by term: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
ClinVar Annotator: match by term: METHYLENETETRAHYDROFOLATE DEHYDROGENASE 1 DEFICIENCY
ClinVar
OMIM
PMID:11004530 PMID:21813566 PMID:23402911 PMID:25633902 PMID:25741868 PMID:27707659 PMID:32414565 NCBI chr 6:99,282,850...99,350,367
Ensembl chr 6:99,282,850...99,350,340
JBrowse link
congenital dyserythropoietic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdan1 codanin 1 susceptibility ISO DNA:mutations
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
ClinVar Annotator: match by OMIM:224120
CTD
ClinVar
PMID:12434312, PMID:16098079 RGD:1600473, RGD:11081155 NCBI chr 3:112,660,839...112,676,596
Ensembl chr 3:112,663,383...112,676,556
JBrowse link
G Cdin1 CDAN1 interacting nuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:107,142,734...107,347,381
Ensembl chr 3:107,142,762...107,348,650
JBrowse link
G Diaph3 diaphanous-related formin 3 ISS MouseDO NCBI chr15:69,928,507...70,400,077
Ensembl chr15:70,039,424...70,399,924
JBrowse link
G Klf1 Kruppel like factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:26,016,289...26,019,557
Ensembl chr19:26,016,382...26,019,553
JBrowse link
G Man2a1 mannosidase, alpha, class 2A, member 1 ISS OMIM:105600 | OMIM:224100 | OMIM:224120 | OMIM:613673 | OMIM:615631 MouseDO NCBI chr 9:112,293,388...112,451,677
Ensembl chr 9:112,293,388...112,451,677
JBrowse link
G Sec23b Sec23 homolog B, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital dyserythropoietic anemia
CTD
ClinVar
PMID:19561605 PMID:24033266 PMID:25741868 NCBI chr 3:138,715,118...138,757,111
Ensembl chr 3:138,715,570...138,757,111
JBrowse link
congenital dyserythropoietic anemia type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdan1 codanin 1 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type I ClinVar PMID:12434312 PMID:12825070 PMID:16098079 PMID:16141353 PMID:16754775 PMID:18575862 PMID:20301759 PMID:22407294 PMID:23065504 PMID:25741868 PMID:25741869 PMID:27827297 PMID:28132690 PMID:28492532 PMID:29901818 NCBI chr 3:112,660,839...112,676,596
Ensembl chr 3:112,663,383...112,676,556
JBrowse link
congenital dyserythropoietic anemia type Ia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdan1 codanin 1 ISO OMIM NCBI chr 3:112,660,839...112,676,596
Ensembl chr 3:112,663,383...112,676,556
JBrowse link
congenital dyserythropoietic anemia type Ib term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdin1 CDAN1 interacting nuclease 1 ISO ClinVar Annotator: match by term: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib OMIM
ClinVar
PMID:9220189 PMID:16643456 PMID:23716552 PMID:25741868 PMID:29885034 PMID:31191338 NCBI chr 3:107,142,734...107,347,381
Ensembl chr 3:107,142,762...107,348,650
JBrowse link
congenital dyserythropoietic anemia type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sec23b Sec23 homolog B, COPII coat complex component ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II
ClinVar Annotator: match by term: HEMPAS anemia
ClinVar Annotator: match by term: CDA II
ClinVar
OMIM
PMID:19561605 PMID:19621418 PMID:20015893 PMID:20941788 PMID:21252497 PMID:21850656 PMID:22208203 PMID:22428539 PMID:23453696 PMID:25044164 PMID:25741868 PMID:26522472 PMID:28492532 PMID:29031773 PMID:29901818 PMID:30311386 PMID:32581362 NCBI chr 3:138,715,118...138,757,111
Ensembl chr 3:138,715,570...138,757,111
JBrowse link
congenital dyserythropoietic anemia type IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klf1 Kruppel like factor 1 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type IV ClinVar
OMIM
PMID:1659863 PMID:21055716 PMID:23125034 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr19:26,016,289...26,019,557
Ensembl chr19:26,016,382...26,019,553
JBrowse link
congenital hemolytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg8 ATP binding cassette subfamily G member 8 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 6:7,961,413...7,980,708
Ensembl chr 6:7,961,413...7,980,708
JBrowse link
G C3 complement C3 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Cd46 CD46 molecule ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr13:113,786,525...113,818,741
Ensembl chr13:113,787,349...113,817,995
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO Severe GPI deficiency with neurologic deficits RGD PMID:8499925, PMID:9856489 RGD:1600631, RGD:1600632 NCBI chr 1:90,063,411...90,091,287
Ensembl chr 1:90,063,411...90,091,287
JBrowse link
G Gsr glutathione-disulfide reductase ISO RGD PMID:947404 RGD:1600697 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN WASHTENAW
ClinVar Annotator: match by term: HEMOGLOBIN SANTA ANA
ClinVar Annotator: match by term: HEMOGLOBIN CHEVERLY
ClinVar PMID:3839771 PMID:5713642 PMID:6877904 PMID:7852083 PMID:26467025, PMID:1520632 RGD:1600886 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr19:55,305,494...55,367,680
Ensembl chr19:55,305,496...55,367,353
JBrowse link
G Plekhg3 pleckstrin homology and RhoGEF domain containing G3 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 6:99,612,993...99,655,753
Ensembl chr 6:99,625,306...99,655,362
JBrowse link
G Rhd Rh blood group, D antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:9657769 NCBI chr 5:153,197,416...153,232,009
Ensembl chr 5:153,197,459...153,232,687
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO DNA:missense mutations:cds:multiple (human) RGD PMID:16227998, PMID:8841202 RGD:10450505, RGD:10450509 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 PMID:26002053 NCBI chr13:92,264,231...92,340,091
Ensembl chr13:92,264,231...92,340,083
JBrowse link
G Sptb spectrin, beta, erythrocytic ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 6:99,657,144...99,783,189
Ensembl chr 6:99,659,651...99,783,047
JBrowse link
congenital hypoplastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 6:26,657,507...26,680,459
Ensembl chr 6:26,657,780...26,680,284
JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr11:70,034,181...70,044,590
Ensembl chr11:70,034,139...70,044,628
JBrowse link
congenital intrinsic factor deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cblif cobalamin binding intrinsic factor ISO ClinVar Annotator: match by term: Intrinsic factor deficiency
ClinVar Annotator: match by OMIM:261000
DNA:mutations:cds:c.68A>G,67C>G, deletion,p.Q5R,p.Q5G(human)
OMIM
ClinVar
PMID:14576042 PMID:14695536 PMID:15738392 PMID:19036097 PMID:20408840 PMID:22854512 PMID:22929189 PMID:24033266 PMID:25308559 PMID:27577878 PMID:28492532 PMID:30311386, PMID:14695536 RGD:11049582 NCBI chr 1:228,118,048...228,132,296
Ensembl chr 1:228,118,048...228,132,404
JBrowse link
Congenital Methemoglobinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyb5a cytochrome b5 type A ISO protein:decreased activity:erythrocyte membrane:
DNA:missense, nonsense mutations:splice junction,cds:multiple
RGD PMID:7451647, PMID:18343696 RGD:11352693, RGD:11352695 NCBI chr18:81,694,818...81,726,821
Ensembl chr18:81,694,808...81,726,821
JBrowse link
congenital nonspherocytic hemolytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak1 adenylate kinase 1 ISO DNA:missense, deletion mutations:cds: RGD PMID:17662886 RGD:11100022 NCBI chr 3:11,652,143...11,659,135 JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISS OMIM:206300 | OMIM:206400 | OMIM:300908 | OMIM:613470 MouseDO NCBI chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO DNA:point mutations:exon:637G>T, 1178G>A, 1089C>A (human)
CTD Direct Evidence: marker/mechanism
DNA:point mutations: :1376G>T, 1502T>G (human)
CTD PMID:4125296 PMID:10666231, PMID:1999409, PMID:24923766 RGD:1599812, RGD:10449107 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO
ISS
OMIM:206300 | OMIM:206400 | OMIM:300908 | OMIM:613470
DNA:mutations:cds:
MouseDO PMID:17041899, PMID:8417789, PMID:9446754 RGD:1600633, RGD:11051955, RGD:11051849 NCBI chr 1:90,063,411...90,091,287
Ensembl chr 1:90,063,411...90,091,287
JBrowse link
G Hk1 hexokinase 1 ISO DNA:deletion, missense mutation:CDS:577_672del, 1677T>C (p.L529S) (human)
DNA, protein:insertion, decreased activity:intron, kidney, spleen, erythrocyte
RGD PMID:7655856, PMID:11783948 RGD:1601519, RGD:11353878 NCBI chr20:31,911,460...31,979,780
Ensembl chr20:31,912,262...31,956,649
JBrowse link
G Nt5c3a 5'-nucleotidase, cytosolic IIIA ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672222 NCBI chr 4:87,238,325...87,281,234
Ensembl chr 4:87,237,949...87,281,157
JBrowse link
G Pklr pyruvate kinase L/R ISO DNA:missense mutations:cds:p.A468V, p.I314T (human)
DNA:snp:promoter:g.-72A>G (human)
DNA:missense mutation:cds:p.R479H (human)
DNA:missense mutations:cds:p.T384M, p.Q421K (human)
RGD PMID:7949104, PMID:11054094, PMID:8161798, PMID:1536957 RGD:11535979, RGD:11535987, RGD:11535983, RGD:11535981 NCBI chr 2:188,449,158...188,458,034
Ensembl chr 2:188,449,210...188,459,592
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8503454 NCBI chr 4:157,328,375...157,331,905
Ensembl chr 4:157,328,379...157,331,905
JBrowse link
dehydrated hereditary stomatocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnn4 potassium calcium-activated channel subfamily N member 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:81,227,855...81,245,986
Ensembl chr 1:81,230,612...81,245,996
JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Xerocytosis hereditary ClinVar PMID:16898969 PMID:21944700 PMID:22529292 PMID:23479567 PMID:23695678 PMID:24033266 PMID:25741868 NCBI chr19:55,305,494...55,367,680
Ensembl chr19:55,305,496...55,367,353
JBrowse link
dehydrated hereditary stomatocytosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema
ClinVar Annotator: match by OMIM:194380
OMIM
ClinVar
PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 PMID:21944700 PMID:22529292 PMID:23479567 PMID:23695678 PMID:24033266 PMID:25741868 PMID:29576450 NCBI chr19:55,305,494...55,367,680
Ensembl chr19:55,305,496...55,367,353
JBrowse link
dehydrated hereditary stomatocytosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnn4 potassium calcium-activated channel subfamily N member 4 ISO ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 2 ClinVar
OMIM
PMID:652816 PMID:687829 PMID:4851153 PMID:6473461 PMID:26148990 PMID:26178367 PMID:26198474 NCBI chr 1:81,227,855...81,245,986
Ensembl chr 1:81,230,612...81,245,996
JBrowse link
delta beta-thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Fetal hemoglobin quantitative trait locus 1
ClinVar Annotator: match by OMIM:141749
OMIM
ClinVar
PMID:49057 PMID:81926 PMID:88735 PMID:750553 PMID:909565 PMID:1177278 PMID:1186896 PMID:1244906 PMID:1301203 PMID:1353069 PMID:1376298 PMID:1390250 PMID:1427786 PMID:1428944 PMID:1463768 PMID:1483699 PMID:1610915 PMID:1634236 PMID:1634368 PMID:1734721 PMID:1769663 PMID:1802884 PMID:1917531 PMID:1967205 PMID:1986365 PMID:2004023 PMID:2079437 PMID:2200760 PMID:2296310 PMID:2298457 PMID:2307460 PMID:2446680 PMID:2467892 PMID:2577233 PMID:2579336 PMID:2582106 PMID:2713503 PMID:2867271 PMID:2887538 PMID:2888754 PMID:2891298 PMID:2893541 PMID:2895770 PMID:2898142 PMID:2898460 PMID:2898955 PMID:2903765 PMID:3048433 PMID:3170235 PMID:3354556 PMID:3422218 PMID:3462712 PMID:3557993 PMID:3557998 PMID:3623977 PMID:3690667 PMID:3752087 PMID:3821796 PMID:3957690 PMID:4078867 PMID:4232783 PMID:4991321 PMID:5050915 PMID:5672850 PMID:6019668 PMID:6162860 PMID:6188062 PMID:6189507 PMID:6190800 PMID:6264391 PMID:6264477 PMID:6268660 PMID:6270663 PMID:6272289 PMID:6280057 PMID:6285354 PMID:6304979 PMID:6322284 PMID:6434492 PMID:6457059 PMID:6583683 PMID:6583702 PMID:6584911 PMID:6585831 PMID:6695908 PMID:6714226 PMID:6826539 PMID:6896219 PMID:7151176 PMID:7312624 PMID:7338475 PMID:7522523 PMID:7558878 PMID:7668219 PMID:7993409 PMID:8091935 PMID:8095930 PMID:8199597 PMID:8330981 PMID:8373896 PMID:8435318 PMID:8462981 PMID:8602996 PMID:8619407 PMID:8917506 PMID:9048934 PMID:9101288 PMID:9113933 PMID:9140720 PMID:9401495 PMID:9490703 PMID:9845707 PMID:9859938 PMID:10335989 PMID:10602954 PMID:10612821 PMID:11300348 PMID:11545326 PMID:11559932 PMID:11741197 PMID:11830454 PMID:11857746 PMID:11880644 PMID:11939510 PMID:12000828 PMID:12124399 PMID:12144056 PMID:12144057 PMID:12383672 PMID:12403491 PMID:12709369 PMID:12764548 PMID:13066514 PMID:13115700 PMID:13369537 PMID:13464827 PMID:13590135 PMID:13852872 PMID:13872094 PMID:14160125 PMID:14576320 PMID:15108284 PMID:15181845 PMID:15654898 PMID:16001361 PMID:16291734 PMID:16311287 PMID:16370495 PMID:16470532 PMID:16540414 PMID:17287491 PMID:17331080 PMID:17365006 PMID:17932132 PMID:18048408 PMID:18192399 PMID:18294253 PMID:18603555 PMID:19000664 PMID:19061217 PMID:19254853 PMID:19429541 PMID:19657842 PMID:19727720 PMID:19758965 PMID:19958184 PMID:19958185 PMID:20110664 PMID:20132300 PMID:20301551 PMID:20301599 PMID:20305663 PMID:20395516 PMID:20412082 PMID:20437613 PMID:20492708 PMID:20642331 PMID:20704537 PMID:20861612 PMID:20954261 PMID:21119755 PMID:21131035 PMID:21194265 PMID:21228398 PMID:21302591 PMID:21389146 PMID:21417574 PMID:21529713 PMID:21797703 PMID:22010933 PMID:22028795 PMID:22075726 PMID:22188014 PMID:22271886 PMID:22335963 PMID:22392582 PMID:22625666 PMID:22975760 PMID:23162295 PMID:23234478 PMID:23321370 PMID:23348723 PMID:23425204 PMID:23590658 PMID:23637309 PMID:23647352 PMID:23729725 PMID:24033266 PMID:24055728 PMID:24099628 PMID:24200214 PMID:24245819 PMID:24401016 PMID:24493127 PMID:24616059 PMID:24814631 PMID:24857915 PMID:25000193 PMID:25016698 PMID:25023084 PMID:25023085 PMID:25087612 PMID:25089872 PMID:25113778 PMID:25135424 PMID:25155404 PMID:25332589 PMID:25480500 PMID:25525159 PMID:25572186 PMID:25666204 PMID:25741868 PMID:25818823 PMID:25849334 PMID:25856402 PMID:26029792 PMID:26084319 PMID:26097845 PMID:26193974 PMID:26275168 PMID:26290351 PMID:26291967 PMID:26372199 PMID:26436569 PMID:26467025 PMID:27263053 PMID:27427187 PMID:27690257 PMID:27821015 PMID:28356267 PMID:28366028 PMID:28379995 PMID:28391758 PMID:28492532 PMID:28635337 PMID:28670940 PMID:28865746 PMID:29484903 PMID:29695942 PMID:30311386 PMID:31714438 PMID:32581362 PMID:32860008 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: Fetal hemoglobin quantitative trait locus 1
ClinVar Annotator: match by term: Delta-plus-thalassemia
ClinVar PMID:1398286 PMID:1742490 PMID:3401592 PMID:11939506 PMID:12402333 PMID:15921167 PMID:16434382 NCBI chr 1:168,945,531...168,953,023
Ensembl chr 1:168,945,449...168,965,566
JBrowse link
G Hbg1 hemoglobin subunit gamma 1 ISO ClinVar Annotator: match by term: Sardinian hpfh
ClinVar Annotator: match by term: Fetal hemoglobin, a-gamma type, reduction in
ClinVar Annotator: match by OMIM:141749
OMIM
ClinVar
PMID:811241 PMID:1373683 PMID:1374633 PMID:1379347 PMID:1487421 PMID:1698280 PMID:1704803 PMID:1990287 PMID:2224140 PMID:2276623 PMID:2417646 PMID:2423160 PMID:2430647 PMID:2441598 PMID:2451123 PMID:2452784 PMID:2469505 PMID:3033668 PMID:3181130 PMID:3377986 PMID:3401591 PMID:9703422 NCBI chr 1:168,992,841...168,994,219
Ensembl chr 1:168,992,722...168,994,253
JBrowse link
Delta-Thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: Delta-0-thalassemia
ClinVar Annotator: match by term: delta Thalassemia
ClinVar Annotator: match by term: Delta-thalassemia
ClinVar Annotator: match by term: Delta-zero-thalassemia, knossos type
ClinVar PMID:1301204 PMID:1309671 PMID:1398286 PMID:1515647 PMID:1742490 PMID:2018846 PMID:3401592 PMID:3676110 PMID:8118467 PMID:8330984 PMID:8364213 PMID:11939506 PMID:12402333 PMID:16434382 PMID:18221842 PMID:20678137 PMID:23215833 PMID:23806011 PMID:24601842 PMID:24985928 PMID:27387985 NCBI chr 1:168,945,531...168,953,023
Ensembl chr 1:168,945,449...168,965,566
JBrowse link
Diamond Blackfan anemia 15 with mandibulofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100361854 ribosomal protein S26-like ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:17483715 PMID:19816270 PMID:23718193 PMID:24942156 PMID:28492532 NCBI chr  X:115,495,660...115,496,062
Ensembl chr  X:115,495,698...115,496,045
JBrowse link
G Rps28 ribosomal protein S28 ISO ClinVar Annotator: match by OMIM:606164 OMIM
ClinVar
PMID:24942156 NCBI chr 7:18,682,071...18,683,440
Ensembl chr 7:18,682,071...18,683,440
JBrowse link
G Tsr2 TSR2, ribosome maturation factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:11424144 PMID:24942156 NCBI chr  X:20,141,406...20,146,082
Ensembl chr  X:20,144,432...20,232,639
JBrowse link
Diamond-Blackfan anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,744,646...55,756,524
Ensembl chr10:55,744,588...55,756,566
JBrowse link
G Alox15b arachidonate 15-lipoxygenase, type B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,773,748...55,783,489
Ensembl chr10:55,774,006...55,783,489
JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,711,996...55,735,915
Ensembl chr10:55,712,043...55,735,911
JBrowse link
G Arhgef15 Rho guanine nucleotide exchange factor 15 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,532,097...55,545,675
Ensembl chr10:55,532,077...55,544,429
JBrowse link
G Aurkb aurora kinase B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,625,860...55,632,399
Ensembl chr10:55,626,741...55,634,991
JBrowse link
G Borcs6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,642,070...55,643,924
Ensembl chr10:55,642,070...55,643,923
JBrowse link
G Chd3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,943,467...55,970,417
Ensembl chr10:55,943,446...55,965,216
JBrowse link
G Cntrob centrobin, centriole duplication and spindle assembly protein ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,901,929...55,927,121
Ensembl chr10:55,901,901...55,924,158
JBrowse link
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,596,172...55,616,873
Ensembl chr10:55,596,148...55,616,889
JBrowse link
G Cyb5d1 cytochrome b5 domain containing 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,993,206...55,997,429
Ensembl chr10:55,995,823...55,997,299
JBrowse link
G Dipk1a divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:20960466 PMID:23718193 PMID:25741868 PMID:28492532 PMID:28694211 PMID:28991257 NCBI chr14:2,789,699...2,860,354
Ensembl chr14:2,789,650...2,860,333
JBrowse link
G Dnah2 dynein, axonemal, heavy chain 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:56,029,022...56,154,602
Ensembl chr10:56,029,029...56,154,548
JBrowse link
G Efnb3 ephrin B3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:56,161,431...56,168,819
Ensembl chr10:56,161,432...56,167,426
JBrowse link
G Flvcr1 FLVCR heme transporter 1 ISS OMIM:105650 | OMIM:606129 | OMIM:610629 | OMIM:612527 | OMIM:612528 | OMIM:612561 | OMIM:612562 | OMIM:612563 | OMIM:613308 | OMIM:613309 | OMIM:614900 | OMIM:615550 | OMIM:615909 MouseDO NCBI chr13:109,624,167...109,629,609
Ensembl chr13:109,578,074...109,629,482
JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr  X:15,273,937...15,281,759
Ensembl chr  X:15,378,789...15,382,066
JBrowse link
G Gh1 growth hormone 1 treatment ISO RGD PMID:25492299 RGD:11352737 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr  X:15,225,645...15,240,458
Ensembl chr  X:15,225,645...15,240,329
JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,835,695...55,851,235
Ensembl chr10:55,835,695...55,851,235
JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,704,485...55,710,523
Ensembl chr10:55,707,164...55,709,687
JBrowse link
G Kcnab3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,927,228...55,933,653
Ensembl chr10:55,927,223...55,933,653
JBrowse link
G Kdm6b lysine demethylase 6B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:56,000,494...56,009,582
Ensembl chr10:56,001,799...56,008,885
JBrowse link
G Klf1 Kruppel like factor 1 ISO mRNA:decreased expression:bone marrow, blood RGD PMID:22965552 RGD:10769343 NCBI chr19:26,016,289...26,019,557
Ensembl chr19:26,016,382...26,019,553
JBrowse link
G Naa38 N(alpha)-acetyltransferase 38, NatC auxiliary subunit ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,997,614...55,998,691
Ensembl chr10:55,997,614...55,998,691
JBrowse link
G Odf4 outer dense fiber of sperm tails 4 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,510,333...55,516,315
Ensembl chr10:55,510,340...55,515,885
JBrowse link
G Per1 period circadian regulator 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,681,761...55,696,557
Ensembl chr10:55,687,050...55,695,994
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,571,881...55,593,384
Ensembl chr10:55,571,118...55,589,978
JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Aase-Smith syndrome II
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar PMID:25741868 PMID:27029625 NCBI chr16:717,821...756,002
Ensembl chr16:716,683...755,990
JBrowse link
G Rangrf RAN guanine nucleotide release factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,559,049...55,560,420
Ensembl chr10:55,559,041...55,560,422
JBrowse link
G Rnf227 ring finger protein 227 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,940,533...55,941,205
Ensembl chr10:55,940,533...55,941,205
JBrowse link
G Rpl11 ribosomal protein L11 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 5:154,390,809...154,394,412
Ensembl chr 5:154,388,140...154,394,328
JBrowse link
G Rpl26 ribosomal protein L26 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,492,417...55,495,547
Ensembl chr10:55,492,404...55,496,012
JBrowse link
G Rpl5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:20960466 PMID:23718193 PMID:25741868 PMID:28492532 PMID:28694211 PMID:28991257 NCBI chr14:2,860,963...2,867,397
Ensembl chr14:2,860,965...2,867,397
JBrowse link
G Rps10 ribosomal protein S10 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20116044 PMID:20159986 PMID:23718193 PMID:28065601 PMID:28132843 PMID:28492532 NCBI chr20:7,215,762...7,220,331
Ensembl chr20:7,215,774...7,219,548
JBrowse link
G Rps17 ribosomal protein S17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17647292 NCBI chr 1:143,167,329...143,169,915
Ensembl chr 1:143,167,362...143,169,657
JBrowse link
G Rps19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9988267 PMID:10590074 PMID:10598818 PMID:10753603 PMID:11112378 PMID:12586610 PMID:12750732 PMID:15059149 PMID:15075082 PMID:15384984 PMID:16159874 PMID:17053056 PMID:17082006 PMID:17517689 PMID:17726054 PMID:18412286 PMID:18768533 PMID:20378560 PMID:20395159 PMID:20603584 PMID:20606162 PMID:20960466 PMID:23349008 PMID:24952648 PMID:25741868 PMID:25946618 PMID:26136524 PMID:27329125 PMID:28102861 PMID:28376382 PMID:28492532, PMID:15523650, PMID:9988267 RGD:1599572, RGD:1599571 NCBI chr 1:81,750,873...81,756,629
Ensembl chr 1:81,750,928...81,756,627
JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:17186470 PMID:19689926 PMID:25741868 PMID:27029625 PMID:28492532 NCBI chr16:757,390...762,091
Ensembl chr16:757,403...762,075
JBrowse link
G Rps7 ribosomal protein S7 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 6:47,899,525...47,904,389
Ensembl chr 6:47,899,525...47,904,437
JBrowse link
G Rpsa ribosomal protein SA ISS OMIM:105650 | OMIM:606129 | OMIM:610629 | OMIM:612527 | OMIM:612528 | OMIM:612561 | OMIM:612562 | OMIM:612563 | OMIM:613308 | OMIM:613309 | OMIM:614900 | OMIM:615550 | OMIM:615909 MouseDO NCBI chr 8:128,806,053...128,809,987
Ensembl chr 8:128,806,129...128,809,986
JBrowse link
G Slc25a35 solute carrier family 25, member 35 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,554,911...55,559,083
Ensembl chr10:55,555,089...55,559,082
JBrowse link
G Suv39h1 suppressor of variegation 3-9 homolog 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr  X:146,532,002...146,533,538 JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,653,694...55,656,270
Ensembl chr10:55,653,946...55,656,270
JBrowse link
G Tmem88 transmembrane protein 88 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,998,530...56,000,225
Ensembl chr10:55,998,530...56,000,225
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 PMID:30146126 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Trappc1 trafficking protein particle complex 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,924,996...55,926,582
Ensembl chr10:55,924,938...55,926,783
JBrowse link
G Vamp2 vesicle-associated membrane protein 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,675,171...55,679,405
Ensembl chr10:55,675,575...55,679,450
JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr  X:15,155,246...15,164,099
Ensembl chr  X:15,155,230...15,164,105
JBrowse link
G Wrap53 WD repeat containing, antisense to TP53 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:56,169,024...56,185,800
Ensembl chr10:56,169,025...56,185,857
JBrowse link
Diamond-Blackfan anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dipk1a divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar PMID:19061985 PMID:19773262 PMID:20960466 PMID:23718193 PMID:25741868 PMID:28492532 NCBI chr14:2,789,699...2,860,354
Ensembl chr14:2,789,650...2,860,333
JBrowse link
G Rpl5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar PMID:19061985 PMID:19773262 PMID:20960466 PMID:23718193 PMID:25741868 PMID:28492532 NCBI chr14:2,860,963...2,867,397
Ensembl chr14:2,860,965...2,867,397
JBrowse link
G Rps19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar
OMIM
PMID:9988267 PMID:10590074 PMID:10598818 PMID:10753603 PMID:12586610 PMID:12750732 PMID:15384984 PMID:16159874 PMID:17053056 PMID:17082006 PMID:17517689 PMID:17726054 PMID:18412286 PMID:18768533 PMID:20378560 PMID:20395159 PMID:20606162 PMID:23812780 PMID:24033266 PMID:24952648 PMID:25741868 PMID:28102861 PMID:28492532 NCBI chr 1:81,750,873...81,756,629
Ensembl chr 1:81,750,928...81,756,627
JBrowse link
Diamond-Blackfan anemia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ikzf4 IKAROS family zinc finger 4 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 ClinVar PMID:23812780 NCBI chr 7:3,061,422...3,098,142
Ensembl chr 7:3,061,469...3,074,359
JBrowse link
G LOC100361854 ribosomal protein S26-like ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 10
ClinVar Annotator: match by OMIM:613309
OMIM
ClinVar
PMID:17483715 PMID:19816270 PMID:20116044 PMID:21414820 PMID:23718193 PMID:23812780 PMID:24942156 PMID:25741868 PMID:26136524 PMID:28102861 PMID:28492532 PMID:29114930 NCBI chr  X:115,495,660...115,496,062
Ensembl chr  X:115,495,698...115,496,045
JBrowse link
Diamond-Blackfan anemia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl26 ribosomal protein L26 ISO ClinVar Annotator: match by OMIM:614900 OMIM
ClinVar
PMID:22431104 NCBI chr10:55,492,417...55,495,547
Ensembl chr10:55,492,404...55,496,012
JBrowse link
Diamond-Blackfan anemia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkiras1 NFKB inhibitor interacting Ras-like 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 12 ClinVar PMID:23812780 PMID:25741868 NCBI chr15:8,179,090...8,188,656
Ensembl chr15:8,179,102...8,183,682
JBrowse link
G Rpl15 ribosomal protein L15 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 12
ClinVar Annotator: match by OMIM:615550
OMIM
ClinVar
PMID:23812780 PMID:25741868 NCBI chr15:8,188,717...8,192,153
Ensembl chr15:8,189,253...8,192,152
JBrowse link
Diamond-Blackfan anemia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps29 ribosomal protein S29 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 13 ClinVar
OMIM
PMID:24829207 PMID:25741868 PMID:30311386 NCBI chr 6:91,455,333...91,456,709
Ensembl chr 6:91,455,333...91,456,696
Ensembl chr 3:91,455,333...91,456,696
Ensembl chr 7:91,455,333...91,456,696
JBrowse link
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tsr2 TSR2, ribosome maturation factor ISO ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS OMIM
ClinVar
PMID:11424144 PMID:24942156 NCBI chr  X:20,141,406...20,146,082
Ensembl chr  X:20,144,432...20,232,639
JBrowse link
Diamond-Blackfan anemia 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl27 ribosomal protein L27 ISO ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 16 ClinVar
OMIM
PMID:25424902 NCBI chr10:89,352,864...89,356,563
Ensembl chr10:89,352,835...89,356,547
JBrowse link
Diamond-Blackfan anemia 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps27 ribosomal protein S27 ISO ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 17 ClinVar
OMIM
PMID:25424902 NCBI chr 2:189,572,175...189,573,280
Ensembl chr 2:189,572,176...189,573,280
JBrowse link
Diamond-Blackfan anemia 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl18 ribosomal protein L18 ISO ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 18 ClinVar
OMIM
PMID:28280134 NCBI chr 1:101,700,910...101,703,551
Ensembl chr 1:101,701,975...101,703,550
JBrowse link
Diamond-Blackfan anemia 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl35 ribosomal protein L35 ISO ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 19 ClinVar
OMIM
PMID:28280134 NCBI chr 3:23,294,813...23,297,774
Ensembl chr 3:23,294,814...23,297,774
JBrowse link
Diamond-Blackfan anemia 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps15a ribosomal protein S15a ISO ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 20 ClinVar
OMIM
PMID:27909223 NCBI chr 1:187,759,865...187,766,734
Ensembl chr 1:187,759,480...187,766,709
JBrowse link
Diamond-Blackfan anemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 3 ClinVar PMID:25741868 NCBI chr16:717,821...756,002
Ensembl chr16:716,683...755,990
JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 3
ClinVar Annotator: match by OMIM:610629
OMIM
ClinVar
PMID:17186470 PMID:23812780 PMID:25741868 PMID:26845104 PMID:28492532 NCBI chr16:757,390...762,091
Ensembl chr16:757,403...762,075
JBrowse link
Diamond-Blackfan anemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps17 ribosomal protein S17 ISO ClinVar Annotator: match by OMIM:612527 OMIM
ClinVar
PMID:17647292 PMID:23718193 PMID:23812780 NCBI chr 1:143,167,329...143,169,915
Ensembl chr 1:143,167,362...143,169,657
JBrowse link
Diamond-Blackfan anemia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iqcg IQ motif containing G ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Diamond-Blackfan anemia 5
ClinVar PMID:18535205 PMID:22262766 PMID:22689679 PMID:25741868 PMID:25946618 PMID:28492532 NCBI chr11:70,967,228...71,007,708
Ensembl chr11:70,967,223...71,105,403
JBrowse link
G Rpl35a ribosomal protein L35a ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 5
DNA:deletions, duplication:multiple (human)
DNA:deletions, snps:multiple (human)
ClinVar Annotator: match by OMIM:612528
OMIM
ClinVar
PMID:18535205 PMID:22262766 PMID:22689679 PMID:25741868 PMID:25946618 PMID:28492532, PMID:22689679, PMID:18535205 RGD:11535072, RGD:11535069 NCBI chr11:70,963,223...70,967,146
Ensembl chr12:7,186,473...7,186,873
Ensembl chr 5:7,186,473...7,186,873
Ensembl chr 1:7,186,473...7,186,873
Ensembl chr 6:7,186,473...7,186,873
Ensembl chr12:7,186,473...7,186,873
JBrowse link
Diamond-Blackfan anemia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dipk1a divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 6 ClinVar PMID:19061985 PMID:23718193 PMID:25741868 PMID:28492532 PMID:28991257 NCBI chr14:2,789,699...2,860,354
Ensembl chr14:2,789,650...2,860,333
JBrowse link
G Rpl5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 6
DNA:mutations:multiple (human)
DNA:snps, deletions, insertions:exons, introns:multiple (human)
DNA:snp, insertion, deletion:exons:g.3G>T, g.37_38insT, g.473_474delAA (human)
DNA:insertion, nonsense mutation, deletion:cds:c.197_198insA, c.390C>G, c.169-172delAACA (human)
DNA:snps, duplication, deletions:exons:multiple (human)
OMIM
ClinVar
PMID:19061985 PMID:23718193 PMID:25741868 PMID:28492532 PMID:28991257, PMID:25946618, PMID:19061985, PMID:19773262, PMID:20378560, PMID:25132370, PMID:19191325 RGD:11535969, RGD:11535967, RGD:11535132, RGD:11535130, RGD:11535128, RGD:11535122 NCBI chr14:2,860,963...2,867,397
Ensembl chr14:2,860,965...2,867,397
JBrowse link
Diamond-Blackfan anemia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl11 ribosomal protein L11 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 7
DNA:deletions, snp:exons:c.60_61delCT, c.65delT, c.223C>T (human)
DNA:mutations:multiple (human)
DNA:deletions:exons:g.58_59delCT, g.460delA (human)
DNA:deletions, snp:exons, introns:multiple (human)
DNA:missense mutation, nonsense mutation:cds:p.L20H, p.Y119X (human)
OMIM
ClinVar
PMID:19061985 PMID:19773262 PMID:25741868 PMID:28492532, PMID:26489471, PMID:25946618, PMID:19061985, PMID:20378560, PMID:19773262, PMID:19191325 RGD:11535971, RGD:11535969, RGD:11535967, RGD:11535130, RGD:11535132, RGD:11535122 NCBI chr 5:154,390,809...154,394,412
Ensembl chr 5:154,388,140...154,394,328
JBrowse link
Diamond-Blackfan anemia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps7 ribosomal protein S7 ISO ClinVar Annotator: match by OMIM:612563
ClinVar Annotator: match by term: Diamond-Blackfan anemia 8
ClinVar
OMIM
PMID:19061985 PMID:23718193 PMID:25741868 PMID:27882484 PMID:28492532 NCBI chr 6:47,899,525...47,904,389
Ensembl chr 6:47,899,525...47,904,437
JBrowse link
Diamond-Blackfan anemia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps10 ribosomal protein S10 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 9
ClinVar Annotator: match by OMIM:613308
OMIM
ClinVar
PMID:20116044 PMID:23718193 PMID:25741868 PMID:28492532 NCBI chr20:7,215,762...7,220,331
Ensembl chr20:7,215,774...7,219,548
JBrowse link
Diamond-Blackfan Anemia-Like term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epo erythropoietin ISO ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA-LIKE ClinVar
OMIM
PMID:28283061 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
Distal Renal Tubular Acidosis 4 with Hemolytic Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA
ClinVar Annotator: match by term: Renal tubular acidosis, distal, with hemolytic anemia
ClinVar Annotator: match by OMIM:611590
OMIM
ClinVar
PMID:9207478 PMID:9312167 PMID:9854053 PMID:10926824 PMID:10942416 PMID:12087557 PMID:12938018 PMID:15211439 PMID:22126643 PMID:25741868 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Renal tubular acidosis, distal, with hemolytic anemia ClinVar PMID:30028003 NCBI chr 8:80,965,734...81,125,710
Ensembl chr 8:80,965,255...81,039,246
JBrowse link
Drug-induced Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO associated with breast cancer RGD PMID:23812950 RGD:10755330 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO associated with breast cancer RGD PMID:23812950 RGD:10755330 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Ifnl3 interferon, lambda 3 severity ISO associated with Hepatitis C, Chronic;DNA:SNP:enhancer: (rs12979860) (human) RGD PMID:26933517 RGD:11528554 NCBI chr 1:85,236,243...85,237,775
Ensembl chr 1:85,236,243...85,237,775
JBrowse link
Elliptocytosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epb41 erythrocyte membrane protein band 4.1 ISO ClinVar Annotator: match by term: Elliptocytosis 1
ClinVar Annotator: match by term: PROTEIN 4.1 OF ERYTHROCYTE MEMBRANE, DEFECT OF
ClinVar Annotator: match by OMIM:611804
OMIM
ClinVar
PMID:1430200 PMID:2384597 PMID:2384598 PMID:3134067 PMID:3194408 PMID:3722387 PMID:3965051 PMID:6894932 PMID:7255153 PMID:7627190 PMID:8423235 PMID:25741868 PMID:28492532 NCBI chr 5:150,081,727...150,243,186
Ensembl chr 5:150,084,611...150,167,077
JBrowse link
Elliptocytosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Olr1597 olfactory receptor 1597 ISO ClinVar Annotator: match by term: Elliptocytosis 2 ClinVar NCBI chr13:92,342,255...92,343,196
Ensembl chr13:92,342,255...92,343,196
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Elliptocytosis 2
ClinVar Annotator: match by term: ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE
ClinVar Annotator: match by OMIM:130600
OMIM
ClinVar
PMID:1191563 PMID:1541680 PMID:1638030 PMID:1642244 PMID:1845156 PMID:2043465 PMID:2328319 PMID:2346729 PMID:2384601 PMID:2567189 PMID:2568861 PMID:2794061 PMID:2895677 PMID:3597773 PMID:3708157 PMID:3922449 PMID:4077050 PMID:7074218 PMID:8081008 PMID:8434258 PMID:8435324 PMID:8444470 PMID:8490186 PMID:15071791 PMID:16150946 PMID:18218854 PMID:18783249 PMID:19593814 PMID:21212007 PMID:23241237 PMID:25741868 PMID:26002053 PMID:27667160 PMID:28492532 PMID:30311386 PMID:32581362 NCBI chr13:92,264,231...92,340,091
Ensembl chr13:92,264,231...92,340,083
JBrowse link
Elliptocytosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptb spectrin, beta, erythrocytic ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Elliptocytosis 3
ClinVar Annotator: match by term: Spectrin providence
ClinVar Annotator: match by term: ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL
ClinVar Annotator: match by term: Spectrin rouen
ClinVar
OMIM
PMID:1391962 PMID:2056132 PMID:7883966 PMID:8844207 PMID:9075575 PMID:9163587 PMID:25741868 NCBI chr 6:99,657,144...99,783,189
Ensembl chr 6:99,659,651...99,783,047
JBrowse link
Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpp2 tripeptidyl peptidase 2 ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 PMID:30533531 NCBI chr 9:50,664,048...50,744,803
NCBI chr 9:50,578,868...50,628,943
Ensembl chr 9:50,581,234...50,744,803
JBrowse link
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox4i2 cytochrome c oxidase subunit 4i2 ISO ClinVar Annotator: match by OMIM:612714
DNA:mutation:cds:c.412G>A (p.E138K)(human)
OMIM
ClinVar
PMID:19268275, PMID:19268275 RGD:11344905 NCBI chr 3:148,234,546...148,245,424
Ensembl chr 3:148,234,193...148,245,416
JBrowse link
Familial Juvenile Hyperuricemic Nephropathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ren renin ISO ClinVar Annotator: match by term: Hyperuricemic nephropathy, familial juvenile, 2
ClinVar Annotator: match by OMIM:613092
OMIM
ClinVar
PMID:19664745 PMID:25741868 PMID:28492532 NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151
JBrowse link
Fanconi anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aopep aminopeptidase O ISO ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia
ClinVar PMID:1574115 PMID:1641028 PMID:8103176 PMID:8128956 PMID:8348157 PMID:8499901 PMID:8613549 PMID:8621788 PMID:8703809 PMID:8829660 PMID:08844212 PMID:8882868 PMID:9207444 PMID:9242535 PMID:9398857 PMID:11050007 PMID:12093742 PMID:12670332 PMID:12750283 PMID:14695169 PMID:15364573 PMID:15695377 PMID:16015582 PMID:17924555 PMID:20869034 PMID:21520333 PMID:22720145 PMID:23028338 PMID:23634996 PMID:24033266 PMID:24469828 PMID:24584348 PMID:24728327 PMID:25741868 PMID:26466335 PMID:26681312 PMID:26689913 PMID:26740942 PMID:26822237 PMID:28425259 PMID:28492532 PMID:28767289 PMID:29753700 PMID:29922827 PMID:30031030 PMID:30967997 PMID:32566746 NCBI chr17:507,389...825,062
Ensembl chr17:507,377...821,582
JBrowse link
G Brca2 BRCA2, DNA repair associated susceptibility ISO DNA:mutation
ClinVar Annotator: match by term: Fanconi anemia
ClinVar PMID:9971877 PMID:11030417 PMID:11185744 PMID:12491487 PMID:12955716 PMID:12960223 PMID:15026808 PMID:15070707 PMID:15635067 PMID:15645491 PMID:15876480 PMID:16825431 PMID:17924331 PMID:17972177 PMID:18284688 PMID:18431501 PMID:18627636 PMID:18779604 PMID:19043619 PMID:20104584 PMID:20127978 PMID:20927582 PMID:21120943 PMID:21218378 PMID:21523855 PMID:21548014 PMID:21702907 PMID:21719596 PMID:21990134 PMID:22009639 PMID:22034289 PMID:22126563 PMID:22228431 PMID:22293751 PMID:22486713 PMID:22874498 PMID:23555315 PMID:23704879 PMID:23893897 PMID:24033266 PMID:24055113 PMID:24123850 PMID:24728327 PMID:25085752 PMID:25525159 PMID:25637381 PMID:25682074 PMID:25741868 PMID:26295337 PMID:26296701 PMID:26467025 PMID:26689913 PMID:26834852 PMID:26920070 PMID:27376475 PMID:28222693 PMID:28492532 PMID:28831036 PMID:29394989 PMID:29753700 PMID:29884841 PMID:30254663 PMID:31131967, PMID:12065746 RGD:734658 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
JBrowse link
G Brip1 BRCA1 interacting protein C-terminal helicase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia
CTD
ClinVar
PMID:16116421 PMID:16116423 PMID:16116424 PMID:16153896 PMID:17033622 PMID:19127258 PMID:19763819 PMID:20177395 PMID:20639400 PMID:21165771 PMID:21345144 PMID:21964575 PMID:22006311 PMID:24240112 PMID:24556621 PMID:25741868 PMID:25980754 PMID:26315354 PMID:26467025 PMID:26681312 PMID:26822949 PMID:26845104 PMID:26921362 PMID:26968956 PMID:27179029 PMID:28492532 PMID:29368626 NCBI chr10:73,507,009...73,632,742
Ensembl chr10:73,507,100...73,629,581
JBrowse link
G Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 4:145,559,206...145,574,438
Ensembl chr 4:145,559,206...145,574,438
JBrowse link
G Fanca FA complementation group A disease_progression ISO ClinVar Annotator: match by OMIM:227650
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia, complementation group A
CTD Direct Evidence: marker/mechanism
DNA:deletions, transitions:exon, intron:multiple
DNA:missense mutations, splice-site mutations:exon, intron:multiple
ClinVar
CTD
PMID:1792455 PMID:2472832 PMID:8502512 PMID:08896563 PMID:09371798 PMID:09399890 PMID:9711872 PMID:9721219 PMID:9806548 PMID:9929978 PMID:10090479 PMID:10094191 PMID:10431244 PMID:10521298 PMID:10807541 PMID:11050007 PMID:11063725 PMID:11091222 PMID:11093276 PMID:11344308 PMID:11389461 PMID:11739169 PMID:12031647 PMID:12444097 PMID:12697994 PMID:12955722 PMID:14695169 PMID:15059067 PMID:15383454 PMID:15516848 PMID:15523645 PMID:15591268 PMID:15609317 PMID:15643609 PMID:16015582 PMID:16084127 PMID:16116422 PMID:16397136 PMID:16445838 PMID:16611311 PMID:16720839 PMID:16774934 PMID:16946016 PMID:17726045 PMID:17924555 PMID:18414213 PMID:19278965 PMID:19367192 PMID:19423727 PMID:21273304 PMID:21279724 PMID:21519011 PMID:21520333 PMID:21568838 PMID:21659346 PMID:22482891 PMID:22720145 PMID:22778927 PMID:22950077 PMID:23021409 PMID:23067021 PMID:23613520 PMID:23806870 PMID:23898106 PMID:23934222 PMID:23973728 PMID:24037726 PMID:24082139 PMID:24349332 PMID:24584348 PMID:24689079 PMID:24704046 PMID:24728327 PMID:24989076 PMID:25239263 PMID:25525159 PMID:25533962 PMID:25583207 PMID:25703136 PMID:25741868 PMID:25751062 PMID:26136524 PMID:26181256 PMID:26296701 PMID:26492932 PMID:26689913 PMID:26740942 PMID:26799702 PMID:26841305 PMID:27041517 PMID:27701467 PMID:28102861 PMID:28202063 PMID:28492532 PMID:28600779 PMID:28678401 PMID:28687356 PMID:28717661 PMID:28767289 PMID:28864460 PMID:28973083 PMID:29093742 PMID:29098742 PMID:29269525 PMID:29797310 PMID:29904161 PMID:30031030 PMID:30032139 PMID:30086788 PMID:30311386, PMID:12827451, PMID:11110674, PMID:15523645 RGD:11344919, RGD:11344914, RGD:11344899 NCBI chr19:56,067,548...56,126,075
Ensembl chr19:56,067,548...56,126,063
JBrowse link
G Fancb FA complementation group B ISO ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr  X:31,124,018...31,140,790
Ensembl chr  X:31,124,018...31,140,711
JBrowse link
G Fancc FA complementation group C onset ISO ClinVar Annotator: match by term: Fanconi Anemia
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
CTD Direct Evidence: marker/mechanism
DNA:deletion: :322delG (human)
DNA:insertion, missense, substitution mutations:cds:c.455_456dupA,c.996G>A, c.1390C>T(p.Q464X)(human)
ClinVar
CTD
PMID:1574115 PMID:1641028 PMID:7492758 PMID:7689011 PMID:8081385 PMID:8103176 PMID:8128956 PMID:08348157 PMID:8499901 PMID:8613549 PMID:8621788 PMID:8639804 PMID:8703809 PMID:8829660 PMID:08844212 PMID:8882868 PMID:9207444 PMID:9242535 PMID:9398857 PMID:09452030 PMID:9521584 PMID:09616183 PMID:10666230 PMID:11050007 PMID:11110674 PMID:11427142 PMID:11520787 PMID:12093742 PMID:12670332 PMID:12750283 PMID:14695169 PMID:14726700 PMID:15364573 PMID:15516848 PMID:15695377 PMID:16015582 PMID:16429406 PMID:17909071 PMID:17924555 PMID:19622403 PMID:20301575 PMID:20507306 PMID:20509860 PMID:20869034 PMID:21520333 PMID:21659346 PMID:22482891 PMID:22701786 PMID:22720145 PMID:22778927 PMID:23028338 PMID:23613520 PMID:23634996 PMID:24033266 PMID:24469828 PMID:24584348 PMID:24728327 PMID:25168418 PMID:25741868 PMID:25801821 PMID:26466335 PMID:26681312 PMID:26689913 PMID:26740942 PMID:26778106 PMID:26822237 PMID:26990548 PMID:27133164 PMID:27153395 PMID:27577878 PMID:28125075 PMID:28125078 PMID:28259476 PMID:28425259 PMID:28492532 PMID:28678401 PMID:28717661 PMID:28767289 PMID:29038235 PMID:29439820 PMID:29753700 PMID:29922827 PMID:30031030 PMID:30967997 PMID:31300551 PMID:32566746, PMID:11110674, PMID:16429406 RGD:11344914, RGD:11041907 NCBI chr17:826,512...955,703
Ensembl chr17:833,509...955,615
JBrowse link
G Fancd2 FA complementation group D2 ISO DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple
ClinVar Annotator: match by term: Fanconi anemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11239453 PMID:14667412 PMID:17308347 PMID:17436244 PMID:21356188 PMID:22720145 PMID:22828868 PMID:23613520 PMID:24033266 PMID:24728327 PMID:25703294 PMID:25741868 PMID:27041517 PMID:28202063 PMID:28492532 PMID:28678401, PMID:11239453, PMID:19287902 RGD:1601137, RGD:11344904 NCBI chr 4:145,489,869...145,551,479
Ensembl chr 4:145,489,869...145,551,479
JBrowse link
G Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 4:145,549,248...145,556,054
Ensembl chr 4:145,552,270...145,555,748
JBrowse link
G Fance FA complementation group E ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar NCBI chr20:7,888,927...7,906,142
Ensembl chr20:7,895,083...7,906,142
JBrowse link
G Fancf FA complementation group F ISO ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia
ClinVar PMID:9382107 PMID:10615118 PMID:15262960 PMID:16084127 PMID:17924555 PMID:24728327 PMID:25741868 PMID:26033879 PMID:27714961 PMID:28102861 PMID:28492532 NCBI chr 1:107,229,516...107,232,321
Ensembl chr 1:107,231,292...107,232,305
JBrowse link
G Fancg FA complementation group G ISO FANCG, OMIM:602956
ClinVar Annotator: match by term: Fanconi anemia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi's anemia
ClinVar
CTD
PMID:9806458 PMID:09806548 PMID:10807541 PMID:10961856 PMID:11093276 PMID:11126723 PMID:11438206 PMID:12552564 PMID:12673805 PMID:15657175 PMID:16084127 PMID:16643430 PMID:17924555 PMID:20301575 PMID:22778927 PMID:23613520 PMID:24033266 PMID:24136620 PMID:24584348 PMID:24728327 PMID:25703136 PMID:25741868 PMID:26689913 PMID:26968956 PMID:27041517 PMID:28102861 PMID:28202063 PMID:28492532 PMID:28717661 PMID:30031030, PMID:9806548 RGD:1599879 NCBI chr 5:58,448,060...58,456,416
Ensembl chr 5:58,448,822...58,455,819
JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia
DNA:mutations: :multiple
ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17452773 PMID:17460694 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:22720145 PMID:23613520 PMID:23783014 PMID:24033266 PMID:24989076 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26296701 PMID:26467025 PMID:26590883 PMID:28492532 PMID:28678401 PMID:28878254 PMID:29439820, PMID:26590883 RGD:11344925 NCBI chr 1:141,116,565...141,172,997
Ensembl chr 1:141,120,166...141,172,483
JBrowse link
G Fancl FA complementation group L ISO ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12973351 PMID:19405097 PMID:21279724 PMID:23613520 PMID:24033266 PMID:25239263 PMID:25659033 PMID:25741868 PMID:26149689 PMID:26822237 PMID:26822949 PMID:27153395 PMID:27986371 PMID:28492532 PMID:29335925 PMID:30995915 PMID:31300551 NCBI chr14:110,675,306...110,740,880
Ensembl chr14:110,676,090...110,740,317
JBrowse link
G Fancm FA complementation group M ISO ClinVar Annotator: match by term: Fanconi anemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:2867840 PMID:16116422 PMID:17289582 PMID:18174376 PMID:18414213 PMID:19379763 PMID:19737859 PMID:19763152 PMID:20307669 PMID:21681190 PMID:22406018 PMID:23932590 PMID:24003026 PMID:25288723 PMID:25741868 PMID:26067930 PMID:26094658 PMID:26130695 PMID:26296701 PMID:26483394 PMID:26689913 PMID:26740942 PMID:26822949 PMID:28033443 PMID:28492532 PMID:28678401 PMID:28702895 PMID:28837157 PMID:28837162 PMID:28881617 PMID:29231814 PMID:29287190 PMID:29351780 PMID:29895858 PMID:30075111 PMID:30426508 PMID:30995915 PMID:31700994 PMID:32566746 NCBI chr 6:86,823,195...86,877,067
Ensembl chr 6:86,823,684...86,876,633
JBrowse link
G Flt3lg Fms related receptor tyrosine kinase 3 ligand ISO protein:increased expression:serum,plasma: RGD PMID:7492765 RGD:11049505 NCBI chr 1:101,126,006...101,131,413
Ensembl chr 1:101,124,479...101,131,413
JBrowse link
G Gstm1 glutathione S-transferase mu 1 disease_progression ISO RGD PMID:16173971 RGD:10450839 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 treatment ISO RGD PMID:16173971 RGD:10450839 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Ifng interferon gamma ISO protein:increased expression:plasma RGD PMID:24021704 RGD:11049161 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il10 interleukin 10 ISO protein:increased expression:plasma RGD PMID:24021704 RGD:11049161 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Mc1r melanocortin 1 receptor ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:28492532 PMID:29098742 NCBI chr19:56,215,420...56,219,987 JBrowse link
G Mx2 MX dynamin like GTPase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9389754 NCBI chr11:38,035,306...38,066,185
Ensembl chr11:38,035,450...38,059,950
JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17200668 PMID:18302019 PMID:25741868 PMID:26467025 PMID:26564480 PMID:28492532 NCBI chr 1:192,064,586...192,088,547
Ensembl chr 1:192,064,589...192,088,520
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:28492532 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Prf1 perforin 1 ISO RGD PMID:21542827 RGD:6482802 NCBI chr20:30,915,294...30,920,804
Ensembl chr20:30,915,213...30,921,382
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Rad51c RAD51 paralog C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
CTD
ClinVar
PMID:20400963 PMID:20400964 PMID:20697805 PMID:20723205 PMID:21537932 PMID:21750962 PMID:21980511 PMID:21990120 PMID:22167183 PMID:22370629 PMID:22451500 PMID:22476429 PMID:22725699 PMID:23117857 PMID:24082139 PMID:24504028 PMID:25086635 PMID:25470109 PMID:25741868 PMID:26057125 PMID:26261251 PMID:26406419 PMID:26467025 PMID:26483394 PMID:26740214 PMID:27153395 PMID:28492532 NCBI chr10:74,697,713...74,724,004
Ensembl chr10:74,697,716...74,724,472
JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:19596235 PMID:19596236 PMID:21240275 PMID:21240276 PMID:21240277 PMID:21805310 PMID:22383991 PMID:22401137 PMID:22911665 PMID:23211700 PMID:23840564 PMID:24037726 PMID:24763404 PMID:25288723 PMID:25326635 PMID:25741868 PMID:26201965 PMID:26824983 PMID:28125078 PMID:28202063 PMID:28492532 PMID:28678401 PMID:28717660 PMID:29868112 NCBI chr10:11,787,756...11,808,326
Ensembl chr10:11,786,121...11,807,928
JBrowse link
G Spire2 spire-type actin nucleation factor 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:28492532 PMID:29098742 NCBI chr19:56,136,904...56,175,500
Ensembl chr19:56,136,904...56,175,500
JBrowse link
G Tcf25 transcription factor 25 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:28492532 PMID:29098742 NCBI chr19:56,178,905...56,213,299
Ensembl chr19:56,179,111...56,213,310
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
CTD PMID:22628295, PMID:8438880, PMID:24021704 RGD:10450524, RGD:11049161 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Usp1 ubiquitin specific peptidase 1 ISS MouseDO NCBI chr 5:117,583,502...117,594,872
Ensembl chr 5:117,583,502...117,594,870
JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 4:145,580,869...145,587,835
Ensembl chr 4:145,580,799...145,587,845
JBrowse link
G Vrk2 VRK serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia
ClinVar PMID:19405097 PMID:21279724 PMID:23613520 PMID:24033266 PMID:25239263 PMID:25659033 PMID:25741868 PMID:26822237