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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:delta beta-thalassemia
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Accession:DOID:0080773 term browser browse the term
Definition:A beta thalassemia that is characterized by decreased or absent synthesis of both the delta- and beta-globin chains, which leads to a compensatory increase in fetal gamma-chain synthesis. This disorder results in a microcytic anemia that is clinically mild. (DO)
Synonyms:exact_synonym: DELTA-PLUS-THALASSEMIA;   DELTA/BETA THALESSEMIA
 narrow_synonym: FETAL HEMOGLOBIN, A-GAMMA TYPE, REDUCTION IN;   Greek HPFH;   HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN;   HPFH;   Sardinian HPFH;   hereditary persistence of fetal hemoglobin, HB gene cluster-related;   hereditary persistence of hemoglobin F
 related_synonym: British HPFH;   THALASSEMIA, GAMMA-DELTA-BETA
 primary_id: MESH:C562716
 alt_id: MIM:141749
 xref: NCI:C172823;   ORDO:231237


show annotations for term's descendants           Sort by:
delta beta-thalassemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap2a2 adaptor related protein complex 2 subunit alpha 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,652,315...196,725,609
Ensembl chr 1:196,652,337...196,725,603 		JBrowse link
G Art1 ADP-ribosyltransferase 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:156,478,096...156,487,172
Ensembl chr 1:156,482,621...156,487,172 		JBrowse link
G Art5 ADP-ribosyltransferase 5 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:156,473,362...156,483,324
Ensembl chr 1:156,473,362...156,483,324 		JBrowse link
G Ascl2 achaete-scute family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:198,148,999...198,151,406
Ensembl chr 1:198,148,999...198,151,406 		JBrowse link
G Brsk2 BR serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:197,035,505...197,088,624
Ensembl chr 1:197,035,633...197,088,092 		JBrowse link
G Cars1 cysteinyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:198,753,689...198,796,016
Ensembl chr 1:198,753,691...198,795,941 		JBrowse link
G Cd151 CD151 molecule (Raph blood group) ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,564,744...196,568,753
Ensembl chr 1:196,565,181...196,568,753 		JBrowse link
G Cd81 Cd81 molecule ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:198,235,861...198,251,660
Ensembl chr 1:198,241,484...198,251,660 		JBrowse link
G Cdhr5 cadherin-related family member 5 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,373,110...196,381,609
Ensembl chr 1:196,373,112...196,381,543 		JBrowse link
G Cdkn1c cyclin-dependent kinase inhibitor 1C ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:198,655,394...198,658,097
Ensembl chr 1:198,655,407...198,658,048 		JBrowse link
G Cend1 cell cycle exit and neuronal differentiation 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,525,153...196,528,152
Ensembl chr 1:196,523,920...196,528,302 		JBrowse link
G Chid1 chitinase domain containing 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,594,357...196,629,700
Ensembl chr 1:196,587,509...196,629,606 		JBrowse link
G Chrna10 cholinergic receptor nicotinic alpha 10 subunit ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:156,487,279...156,494,277
Ensembl chr 1:156,487,279...156,491,476 		JBrowse link
G Cracr2b calcium release activated channel regulator 2B ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,558,407...196,563,961
Ensembl chr 1:196,558,588...196,563,771 		JBrowse link
G Ctsd cathepsin D ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:197,527,467...197,539,343
Ensembl chr 1:197,527,467...197,539,488 		JBrowse link
G Deaf1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,401,857...196,435,541
Ensembl chr 1:196,401,857...196,435,541 		JBrowse link
G Drd4 dopamine receptor D4 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,396,366...196,400,824
Ensembl chr 1:196,396,366...196,399,553 		JBrowse link
G Dusp8 dual specificity phosphatase 8 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:197,167,392...197,184,285
Ensembl chr 1:197,169,422...197,182,921 		JBrowse link
G Eps8l2 EPS8-like 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,446,260...196,471,544
Ensembl chr 1:196,446,287...196,471,541 		JBrowse link
G Gatd1 glutamine amidotransferase class 1 domain containing 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,504,533...196,512,561
Ensembl chr 1:196,504,833...196,512,551 		JBrowse link
G H19 H19 imprinted maternally expressed transcript ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134 		JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Delta-beta-thalassemia | ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin | ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta OMIM
ClinVar		 PMID:14973 PMID:893136 PMID:1112610 PMID:1186896 PMID:1390250 More... NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: Delta-beta-thalassemia | ClinVar Annotator: match by term: Delta-plus-thalassemia | ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 PMID:9207479 PMID:11939506 PMID:15921167 PMID:16434382 More... NCBI chr 1:158,224,175...158,231,675
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
G Hbe1 hemoglobin subunit epsilon 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:158,282,931...158,458,855
Ensembl chr 1:158,282,936...158,284,391 		JBrowse link
G Hbg1 hemoglobin subunit gamma 1 ISO ClinVar Annotator: match by term: Fetal hemoglobin, a-gamma type, reduction in | ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin | ClinVar Annotator: match by term: Sardinian HPFH | ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta OMIM
ClinVar		 PMID:291015 PMID:808940 PMID:811241 PMID:939551 PMID:1373683 More... NCBI chr 1:158,271,871...158,273,426
Ensembl chr 1:158,271,873...158,273,425 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Ifitm10 interferon induced transmembrane protein 10 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:197,507,501...197,524,180
Ensembl chr 1:197,507,503...197,525,151 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536 		JBrowse link
G Ins2 insulin 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775 		JBrowse link
G Irf7 interferon regulatory factor 7 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,367,380...196,370,943
Ensembl chr 1:196,367,361...196,370,832 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669 		JBrowse link
G Krtap5-1 keratin associated protein 5-1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:197,278,886...197,279,893 JBrowse link
G Lmntd2 lamin tail domain containing 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,315,112...196,320,880
Ensembl chr 1:196,315,115...196,319,156 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172 		JBrowse link
G Lsp1 lymphocyte-specific protein 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:197,614,677...197,648,414
Ensembl chr 1:197,614,687...197,648,416 		JBrowse link
G Mir210 microRNA 210 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454 		JBrowse link
G Mir675 microRNA 675 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:197,732,275...197,732,358
Ensembl chr 1:197,732,275...197,732,358 		JBrowse link
G Mob2 MOB kinase activator 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:197,092,991...197,149,978
Ensembl chr 1:197,092,994...197,149,933 		JBrowse link
G Mrgpre MAS related GPR family member E ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:198,963,786...198,969,862
Ensembl chr 1:198,963,787...198,969,521 		JBrowse link
G Mrgprg MAS related GPR family member G ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:198,947,648...198,951,556
Ensembl chr 1:198,947,229...198,951,517 		JBrowse link
G Mrpl23 mitochondrial ribosomal protein L23 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:197,687,452...197,695,222
Ensembl chr 1:197,687,347...197,695,222 		JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756 		JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475 		JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250 		JBrowse link
G Muc6 mucin 6, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,726,678...196,764,842
Ensembl chr 1:196,726,807...196,764,842 		JBrowse link
G Nap1l4 nucleosome assembly protein 1-like 4 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:198,709,697...198,746,093
Ensembl chr 1:198,709,701...198,746,020 		JBrowse link
G Nup98 nucleoporin 98 and 96 precursor ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:156,494,423...156,591,415
Ensembl chr 1:156,494,423...156,591,415 		JBrowse link
G Olr59 olfactory receptor 59 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:157,193,051...157,227,707
Ensembl chr 1:157,193,080...157,211,179 		JBrowse link
G Or51a41 olfactory receptor family 51 subfamily A member 41 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:157,454,391...157,455,398
Ensembl chr 1:157,454,041...157,456,953 		JBrowse link
G Or51a7 olfactory receptor family 51 subfamily A member 7 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:157,395,779...157,396,717
Ensembl chr 1:157,395,779...157,396,717 		JBrowse link
G Or51d1 olfactory receptor family 51 subfamily D member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:157,134,584...157,135,641
Ensembl chr 1:157,134,673...157,135,641 		JBrowse link
G Or51e1 olfactory receptor family 51 subfamily E member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:157,142,232...157,151,114
Ensembl chr 1:157,142,352...157,149,671 		JBrowse link
G Or51f1 olfactory receptor family 51 subfamily F member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:157,278,651...157,279,610
Ensembl chr 1:157,278,472...157,281,269 		JBrowse link
G Or51f2 olfactory receptor family 51 subfamily F member 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:157,292,342...157,293,292
Ensembl chr 1:157,292,342...157,293,292 		JBrowse link
G Or51f23c olfactory receptor family 51 subfamily F member 23C ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:157,231,467...157,232,417
Ensembl chr 1:157,231,467...157,232,417 		JBrowse link
G Or51g1 olfactory receptor family 51 subfamily G member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:157,438,123...157,439,064
Ensembl chr 1:157,437,827...157,443,743 		JBrowse link
G Or51g2 olfactory receptor family 51 subfamily G member 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:157,421,637...157,422,575
Ensembl chr 1:157,421,637...157,422,575 		JBrowse link
G Or51l1 olfactory receptor family 51 subfamily L member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:157,516,210...157,517,157
Ensembl chr 1:157,516,210...157,517,157 		JBrowse link
G Or51s1 olfactory receptor family 51 subfamily S member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:157,315,393...157,316,319
Ensembl chr 1:157,311,739...157,324,920 		JBrowse link
G Or51t1 olfactory receptor, family 51, subfamily T, member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:157,370,394...157,371,434
Ensembl chr 1:157,370,424...157,371,434 		JBrowse link
G Or51v8b olfactory receptor family 51 subfamily V member 8B ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:157,987,781...157,988,725
Ensembl chr 1:157,987,781...157,988,725 		JBrowse link
G Or52a5 olfactory receptor family 52 subfamily A member 5 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:158,182,988...158,183,935
Ensembl chr 1:158,178,671...158,184,929 		JBrowse link
G Or52a5b olfactory receptor family 52 subfamily A member 5B ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:158,160,904...158,161,854
Ensembl chr 1:158,160,267...158,166,607 		JBrowse link
G Or52b4 olfactory receptor family 52 subfamily B member 4 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:156,939,068...156,940,009
Ensembl chr 1:156,939,068...156,940,009 		JBrowse link
G Or52e2 olfactory receptor family 52 subfamily E member 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:157,561,070...157,562,023
Ensembl chr 1:157,561,070...157,562,023 		JBrowse link
G Or52e51 olfactory receptor family 52 subfamily E member 51 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:157,656,899...157,657,837
Ensembl chr 1:157,652,403...157,658,106 		JBrowse link
G Or52i2 olfactory receptor family 52 subfamily I member 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:157,105,171...157,106,151
Ensembl chr 1:157,105,189...157,106,151 		JBrowse link
G Or52j3 olfactory receptor family 52 subfamily J member 3 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:157,605,177...157,606,115 JBrowse link
G Or52k1 olfactory receptor family 52 subfamily K member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:157,037,381...157,038,325
Ensembl chr 1:157,037,381...157,038,325 		JBrowse link
G Or52k2 olfactory receptor family 52 subfamily K member 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:157,026,845...157,027,798
Ensembl chr 1:157,026,845...157,027,798 		JBrowse link
G Or52m1 olfactory receptor family 52 subfamily M member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:157,065,217...157,066,170
Ensembl chr 1:157,065,217...157,066,170 		JBrowse link
G Or52r1c olfactory receptor family 52 subfamily R member 1C ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:157,475,119...157,476,063
Ensembl chr 1:157,471,250...157,476,301 		JBrowse link
G Osbpl5 oxysterol binding protein-like 5 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:198,862,071...198,916,469
Ensembl chr 1:198,862,055...198,916,469 		JBrowse link
G Pgap2 post-GPI attachment to proteins 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:156,591,540...156,618,116
Ensembl chr 1:156,591,615...156,618,114 		JBrowse link
G Phlda2 pleckstrin homology-like domain, family A, member 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:198,696,897...198,699,292
Ensembl chr 1:198,696,897...198,697,836 		JBrowse link
G Phrf1 PHD and ring finger domains 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,333,663...196,366,901
Ensembl chr 1:196,333,903...196,366,892 		JBrowse link
G Pidd1 p53-induced death domain protein 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,536,815...196,542,808
Ensembl chr 1:196,536,834...196,542,699 		JBrowse link
G Pnpla2 patatin-like phospholipase domain containing 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,552,723...196,557,805
Ensembl chr 1:196,552,723...196,557,805 		JBrowse link
G Polr2l RNA polymerase II, I and III subunit L ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,570,051...196,572,060 JBrowse link
G Prr33 proline rich 33 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:197,644,903...197,650,774
Ensembl chr 1:197,644,902...197,650,714 		JBrowse link
G Rassf7 Ras association domain family member 7 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,319,600...196,323,787
Ensembl chr 1:196,320,902...196,323,770 		JBrowse link
G Rhog ras homolog family member G ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:156,618,713...156,630,710
Ensembl chr 1:156,615,349...156,631,257 		JBrowse link
G Rnh1 ribonuclease/angiogenin inhibitor 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,269,293...196,281,763
Ensembl chr 1:196,269,293...196,281,910 		JBrowse link
G Rplp2 ribosomal protein lateral stalk subunit P2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,546,086...196,548,636
Ensembl chr 1:196,546,352...196,548,645 		JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:156,823,960...156,848,262
Ensembl chr 1:156,823,960...156,848,261 		JBrowse link
G Sct secretin ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,382,857...196,383,668
Ensembl chr 1:196,382,856...196,383,658 		JBrowse link
G Slc22a18 solute carrier family 22, member 18 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:198,670,626...198,694,977
Ensembl chr 1:198,671,731...198,694,975 		JBrowse link
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,528,471...196,536,398
Ensembl chr 1:196,528,472...196,536,331 		JBrowse link
G Snora52 small nucleolar RNA, H/ACA box 52 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,547,488...196,547,621
Ensembl chr 1:196,547,488...196,547,621 		JBrowse link
G Snora54 small nucleolar RNA, H/ACA box 54 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:198,727,462...198,727,588
Ensembl chr 1:198,727,462...198,727,588 		JBrowse link
G Stim1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363 		JBrowse link
G Syt8 synaptotagmin 8 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:197,588,126...197,593,598
Ensembl chr 1:197,590,149...197,593,504 		JBrowse link
G Taldo1 transaldolase 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,493,634...196,503,965
Ensembl chr 1:196,493,589...196,503,974 		JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767 		JBrowse link
G Tmem80 transmembrane protein 80 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,435,999...196,444,368
Ensembl chr 1:196,436,003...196,444,367
Ensembl chr 1:196,436,003...196,444,367 		JBrowse link
G Tnni2 troponin I2, fast skeletal type ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:197,595,012...197,597,554
Ensembl chr 1:197,594,813...197,597,560 		JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535 		JBrowse link
G Tollip toll interacting protein ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,961,585...196,984,252
Ensembl chr 1:196,950,771...196,983,625 		JBrowse link
G Trim21 tripartite motif-containing 21 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:156,964,896...156,987,504
Ensembl chr 1:156,964,913...156,987,440 		JBrowse link
G Trim68 tripartite motif containing 68 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:157,114,044...157,127,494
Ensembl chr 1:157,114,044...157,127,477 		JBrowse link
G Trpm5 transient receptor potential cation channel, subfamily M, member 5 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:198,254,956...198,277,824
Ensembl chr 1:198,255,723...198,277,654 		JBrowse link
G Tspan32 tetraspanin 32 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:198,190,128...198,204,447
Ensembl chr 1:198,190,164...198,204,445 		JBrowse link
G Tspan4 tetraspanin 4 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:196,571,307...196,593,842
Ensembl chr 1:196,572,228...196,617,448 		JBrowse link
G Tssc4 tumor suppressing subtransferable candidate 4 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:198,251,986...198,254,810
Ensembl chr 1:198,235,487...198,254,980 		JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl11a BCL11 transcription factor A ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN | ClinVar Annotator: match by term: Intellectual developmental disorder with persistence of fetal hemoglobin OMIM
ClinVar		 PMID:25741868 PMID:27453576 PMID:28891213 PMID:29758562 PMID:31474318 More... NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180 		JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: Intellectual developmental disorder with persistence of fetal hemoglobin ClinVar PMID:25741868 NCBI chr 1:80,853,920...80,880,537
Ensembl chr 1:80,853,920...80,880,532 		JBrowse link
G Pafah1b3 platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with persistence of fetal hemoglobin ClinVar PMID:25741868 NCBI chr 1:80,881,263...80,883,789
Ensembl chr 1:80,881,309...80,883,893 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19087
    physical disorder 5183
      congenital hemolytic anemia 362
        hemoglobinopathy 248
          thalassemia 216
            beta thalassemia 143
              delta beta-thalassemia 108
                INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN 3
Path 2
Term Annotations click to browse term
  disease 19087
    disease of anatomical entity 18376
      Hemic and Lymphatic Diseases 4043
        hematopoietic system disease 3531
          anemia 858
            normocytic anemia 752
              hemolytic anemia 431
                congenital hemolytic anemia 362
                  hemoglobinopathy 248
                    thalassemia 216
                      beta thalassemia 143
                        delta beta-thalassemia 108
                          INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN 3
paths to the root