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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
 xref: MESH:C562716;   MIM:141749;   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 2:580,169...628,098
Ensembl chr 2:580,182...628,087 		JBrowse link
G ART1 ADP-ribosyltransferase 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 9:6,432,513...6,443,639
Ensembl chr 9:6,432,858...6,443,603 		JBrowse link
G ART5 ADP-ribosyltransferase 5 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 9:6,443,768...6,449,203
Ensembl chr 9:6,442,459...6,449,208 		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 2:1,558,459...1,560,112
Ensembl chr 2:1,558,459...1,560,112 		JBrowse link
G BRSK2 BR serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 2:896,720...953,908
Ensembl chr 2:896,585...953,108 		JBrowse link
G CARS1 cysteinyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 2:2,119,576...2,163,378
Ensembl chr 2:2,119,592...2,163,343 		JBrowse link
G CD151 CD151 molecule ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 2:525,000...529,568
Ensembl chr 2:525,051...529,565 		JBrowse link
G CD81 CD81 molecule ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 2:1,625,728...1,641,662
Ensembl chr 2:1,625,736...1,641,663 		JBrowse link
G CDHR5 cadherin related family member 5 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 2:376,449...382,713
Ensembl chr 2:375,726...382,719 		JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 2:2,019,391...2,022,092
Ensembl chr 2:2,019,830...2,021,853 		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 2:487,817...490,704
Ensembl chr 2:487,821...490,699 		JBrowse link
G CHID1 chitinase domain containing 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 2:551,973...570,849
Ensembl chr 2:552,324...571,753 		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 9:6,427,832...6,431,881
Ensembl chr 9:6,427,191...6,432,875 		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 2:518,102...524,085
Ensembl chr 2:518,544...524,081 		JBrowse link
G CTSD cathepsin D ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 2:1,188,548...1,197,642
Ensembl chr 2:1,188,549...1,197,643 		JBrowse link
G DEAF1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 2:404,514...427,584
Ensembl chr 2:404,533...427,542 		JBrowse link
G DRD4 dopamine receptor D4 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 2:398,766...401,539
Ensembl chr 2:398,766...402,433 		JBrowse link
G DUSP8 dual specificity phosphatase 8 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 2:1,006,589...1,022,444
Ensembl chr 2:1,008,761...1,022,460 		JBrowse link
G EPS8L2 EPS8 signaling adaptor L2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 2:435,257...452,630
Ensembl chr 2:433,649...452,630 		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 2:472,766...484,609
Ensembl chr 2:474,296...480,736 		JBrowse link
G HBB hemoglobin, beta 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 9:4,800,683...4,801,941
Ensembl chr 9:4,800,293...4,802,364 		JBrowse link
G HBE1 hemoglobin subunit epsilon 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 9:4,818,206...4,820,243
Ensembl chr 9:4,817,748...4,820,243 		JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501 		JBrowse link
G IFITM10 interferon induced transmembrane protein 10 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 2:1,166,975...1,183,309
Ensembl chr 2:1,166,971...1,183,315 		JBrowse link
G IGF2 insulin like growth factor 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 2:1,469,183...1,496,417 JBrowse link
G INS insulin ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 2:1,496,842...1,498,052
Ensembl chr 2:1,496,842...1,497,841 		JBrowse link
G IRF7 interferon regulatory factor 7 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 2:372,235...375,572
Ensembl chr 2:372,238...375,378 		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 2:1,675,323...1,989,110
Ensembl chr 2:1,675,360...1,989,111 		JBrowse link
G LMNTD2 lamin tail domain containing 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 2:323,642...329,782
Ensembl chr 2:323,647...329,660 		JBrowse link
G LOC100510971 olfactory receptor 51A7 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 9:5,224,422...5,227,095
Ensembl chr 9:5,225,793...5,226,731 		JBrowse link
G LOC100511520 olfactory receptor 51F2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 9:5,315,297...5,319,454
Ensembl chr 9:5,315,575...5,316,573 		JBrowse link
G LOC100511705 olfactory receptor 51F1-like ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 9:5,356,856...5,368,118
Ensembl chr 9:5,361,889...5,362,827 		JBrowse link
G LOC100513166 olfactory receptor 51T1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 9:5,246,962...5,254,409
Ensembl chr 9:5,247,145...5,248,128 		JBrowse link
G LOC100513749 olfactory receptor 51S1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 9:5,304,021...5,315,161
Ensembl chr 9:5,306,609...5,307,580 		JBrowse link
G LOC100514119 olfactory receptor 52R1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 9:5,325,367...5,332,003
Ensembl chr 9:5,330,541...5,331,488 		JBrowse link
G LOC100516631 olfactory receptor 52M1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 9:5,701,933...5,709,356 JBrowse link
G LOC100517176 olfactory receptor 52K1-like ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 9:5,735,174...5,736,246
Ensembl chr 9:5,733,044...5,737,134 		JBrowse link
G LOC100519378 olfactory receptor 52A5-like ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417
G LOC100521140 olfactory receptor 52E2-like ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 9:5,110,320...5,116,455 JBrowse link
G LOC100521285 olfactory receptor 52E5-like ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 9:3,582,215...3,583,270 JBrowse link
G LOC100525652 olfactory receptor 51L1-like ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 9:5,178,714...5,183,143
Ensembl chr 9:5,180,480...5,181,427 		JBrowse link
G LOC100621181 olfactory receptor 51V1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 9:4,790,886...4,791,845
Ensembl chr 9:4,790,931...4,791,869 		JBrowse link
G LOC100625684 olfactory receptor 51E2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 9:5,431,098...5,434,483
Ensembl chr 9:5,432,611...5,433,573 		JBrowse link
G LOC100737531 olfactory receptor 51E1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 9:5,474,586...5,492,772
Ensembl chr 9:5,473,113...5,484,468 		JBrowse link
G LOC100737577 olfactory receptor 51D1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 9:5,484,371...5,490,977
Ensembl chr 9:5,489,512...5,490,789 		JBrowse link
G LOC100737744 olfactory receptor 51A4-like ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 9:5,158,194...5,160,361 JBrowse link
G LOC100737856 olfactory receptor 51G1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 9:5,210,187...5,211,767
Ensembl chr 9:5,210,507...5,211,472 		JBrowse link
G LOC100737900 olfactory receptor 51G2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 9:5,216,154...5,223,998
Ensembl chr 9:5,217,183...5,223,159 		JBrowse link
G LOC100738212 olfactory receptor 52I1-like ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 9:5,512,241...5,518,085 JBrowse link
G LOC102159152 mas-related G-protein coupled receptor member X2-like ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 2:2,329,261...2,330,710 JBrowse link
G LOC102164011 DNA-directed RNA polymerases I, II, and III subunit RPABC5-like ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:109,821,516...109,823,848 JBrowse link
G LOC110255371 olfactory receptor 52A1-like ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 9:4,736,922...4,737,880 JBrowse link
G LOC110255383 olfactory receptor 52J3-like ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 9:5,136,155...5,140,662 JBrowse link
G LOC110255384 olfactory receptor 51F2-like ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 9:5,423,425...5,428,871
Ensembl chr 9:5,418,810...5,426,029 		JBrowse link
G LOC110255390 olfactory receptor 52B4-like ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 9:5,926,281...5,934,947 JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 2:303,836...323,701
Ensembl chr 2:304,430...323,699 		JBrowse link
G LSP1 lymphocyte specific protein 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 2:1,261,957...1,295,891
Ensembl chr 2:1,262,079...1,295,887 		JBrowse link
G MOB2 MOB kinase activator 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 2:959,203...993,674
Ensembl chr 2:958,904...971,402 		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 2:2,296,515...2,315,412 JBrowse link
G MRPL23 mitochondrial ribosomal protein L23 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 2:1,346,864...1,356,539 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 2:689,363...719,542
Ensembl chr 2:689,364...710,330 		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 2:757,897...790,321 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 2:807,685...842,096 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 2:630,075...657,967
Ensembl chr 2:629,796...655,380 		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 2:2,070,140...2,117,503
Ensembl chr 2:2,070,142...2,117,615 		JBrowse link
G NUP98 nucleoporin 98 and 96 precursor ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 9:6,319,616...6,419,652
Ensembl chr 9:6,319,650...6,419,660 		JBrowse link
G OSBPL5 oxysterol binding protein like 5 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 2:2,201,615...2,261,946
Ensembl chr 2:2,201,385...2,261,927 		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 9:6,294,471...6,319,317
Ensembl chr 9:6,291,930...6,319,409 		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 2:2,057,679...2,058,675
Ensembl chr 2:2,057,681...2,058,694 		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 2:340,536...371,699
Ensembl chr 2:340,528...371,692 		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 2:499,294...505,740
Ensembl chr 2:499,303...504,871 		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 2:513,065...517,962
Ensembl chr 2:513,077...518,182 		JBrowse link
G PRR33 proline rich 33 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 2:1,291,924...1,297,681
Ensembl chr 2:1,291,933...1,297,517 		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 2:329,830...332,505
Ensembl chr 2:329,851...332,520 		JBrowse link
G RHOG ras homolog family member G ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 9:6,283,558...6,295,376 JBrowse link
G RNH1 ribonuclease/angiogenin inhibitor 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 2:281,919...290,522
Ensembl chr 2:281,928...290,079 		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 2:507,891...509,818
Ensembl chr 2:507,848...510,782 		JBrowse link
G RRM1 ribonucleotide reductase catalytic subunit M1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 9:6,026,151...6,065,211
Ensembl chr 9:6,025,073...6,065,143 		JBrowse link
G SCT secretin ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 2:382,783...385,082
Ensembl chr 2:383,799...384,841 		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 2:2,032,370...2,055,756
Ensembl chr 2:2,028,396...2,055,750 		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 2:491,288...498,773
Ensembl chr 2:491,293...498,767 		JBrowse link
G STIM1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 9:6,066,612...6,270,090
Ensembl chr 9:6,066,617...6,270,575 		JBrowse link
G SYT8 synaptotagmin 8 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 2:1,245,988...1,250,422
Ensembl chr 2:1,247,878...1,250,437 		JBrowse link
G TALDO1 transaldolase 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 2:464,781...472,836
Ensembl chr 2:464,728...472,835 		JBrowse link
G TH tyrosine hydroxylase ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 2:1,499,628...1,506,180
Ensembl chr 2:1,499,620...1,506,170 		JBrowse link
G TMEM80 transmembrane protein 80 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 2:428,297...433,533
Ensembl chr 2:428,303...433,528 		JBrowse link
G TNNI2 troponin I2, fast skeletal type ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 2:1,251,566...1,253,883
Ensembl chr 2:1,251,527...1,253,893 		JBrowse link
G TNNT3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 2:1,297,826...1,316,865
Ensembl chr 2:1,299,174...1,316,517 		JBrowse link
G TOLLIP toll interacting protein ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 2:852,198...864,337
Ensembl chr 2:851,512...864,483 		JBrowse link
G TRIM21 tripartite motif containing 21 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 9:5,782,133...5,790,628
Ensembl chr 9:5,782,200...5,791,577 		JBrowse link
G TRIM68 tripartite motif containing 68 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 9:5,502,931...5,516,936
Ensembl chr 9:5,502,945...5,510,779 		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 2:1,646,597...1,664,935
Ensembl chr 2:1,647,160...1,664,933 		JBrowse link
G TSPAN32 tetraspanin 32 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 2:1,584,486...1,599,411
Ensembl chr 2:1,584,842...1,602,888 		JBrowse link
G TSPAN4 tetraspanin 4 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 2:532,087...550,706
Ensembl chr 2:534,341...550,697 		JBrowse link
G TSSC4 tumor suppressing subtransferable candidate 4 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 2:1,642,693...1,645,860
Ensembl chr 2:1,643,006...1,645,858 		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: BCL11A-related condition | ClinVar Annotator: match by term: BCL11A-related intellectual disability | ClinVar Annotator: match by term: Dias-Logan syndrome | ClinVar Annotator: match by term: Intellectual developmental disorder with persistence of fetal hemoglobin OMIM
ClinVar		 PMID:25741868 PMID:27453576 PMID:28492532 PMID:28891213 PMID:29758562 More... NCBI chr 3:81,195,217...81,296,165
Ensembl chr 3:81,196,294...81,296,382 		JBrowse link
G CIC capicua transcriptional repressor ISO ClinVar Annotator: match by term: Dias-Logan syndrome ClinVar PMID:25741868 NCBI chr 6:49,638,986...49,664,146
Ensembl chr 6:49,638,990...49,662,947 		JBrowse link
G PAFAH1B3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 ISO ClinVar Annotator: match by term: Dias-Logan syndrome ClinVar PMID:25741868 NCBI chr 6:49,635,625...49,638,172
Ensembl chr 6:49,619,241...49,638,171 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15438
    physical disorder 5075
      congenital hemolytic anemia 350
        hemoglobinopathy 232
          thalassemia 200
            beta thalassemia 128
              delta beta-thalassemia 98
                INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN 3
Path 2
Term Annotations click to browse term
  disease 15438
    disease of anatomical entity 15107
      Hemic and Lymphatic Diseases 4094
        hematopoietic system disease 3635
          anemia 825
            normocytic anemia 721
              hemolytic anemia 414
                congenital hemolytic anemia 350
                  hemoglobinopathy 232
                    thalassemia 200
                      beta thalassemia 128
                        delta beta-thalassemia 98
                          INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN 3
paths to the root