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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:sickle cell disease
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Accession:DOID:0081445 term browser browse the term
Definition:A blood protein disease that is characterized by chronic hemolytic anemia and intermittent vaso-occlusive events that result in tissue ischemia leading to acute and chronic pain as well as organ damage that can affect any organ system, resulting from the replacement of one of the beta-globin subunits in hemoglobin with atypical hemoglobin molecules called hemoglobin S which can distort red blood cells into a sickle or crescent shape. Sickle cell disease subtypes should include a detailed genotypic description for the hemoglobin molecules (e.g., Hb S/S, Hb S/C, Hb S/β0-thalassemia). (DO)
Synonyms:xref: MIM:603903


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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 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G HMOX1 heme oxygenase 1 ISO associated with Anemia, Sickle Cell;DNA:repeat:promoter RGD PMID:22966170 RGD:10755560 NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063 		JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility ISO associated with Anemia, Sickle Cell;DNA:polymorphism: :-786T>C(human)
associated with Anemia, Sickle Cell;DNA:repeats:intron:		 RGD PMID:14687036 PMID:25263931 RGD:11533931 RGD:11533934 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233 		JBrowse link
G VEGFA vascular endothelial growth factor A susceptibility ISO associated with Anemia, Sickle Cell;DNA:SNPs: : rs2010963, rs833068,rs3025020(human)
associated with Anemia, Sickle Cell;DNA:polymorphism:583C > T (human)		 RGD PMID:22925497 PMID:25130874 RGD:11075233 RGD:11075235 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353 		JBrowse link
sickle cell anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALAD aminolevulinate dehydratase ISO protein:increased activity:erythrocyte RGD PMID:900140 RGD:12904674 NCBI chr 9:84,488,339...84,503,360
Ensembl chr 9:112,859,171...112,873,784 		JBrowse link
G APOB apolipoprotein B treatment ISO RGD PMID:24035168 RGD:11354943 NCBI chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129 		JBrowse link
G BCL11A BCL11 transcription factor A severity
treatment		 ISO DNA:snp, haplotype:intron:c.386-24983T>C (rs4671393) (human) RGD PMID:18667698 PMID:21998251 PMID:22360576 RGD:11099970 RGD:11099996 RGD:11100007 NCBI chr2A:60,552,908...60,655,437
Ensembl chr2A:61,695,613...61,795,800 		JBrowse link
G C3 complement C3 severity ISO protein:increased processing RGD PMID:3896597 PMID:7554454 RGD:11040773 RGD:11040777 NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699 		JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr2A:27,218,699...27,245,156
Ensembl chr2A:27,306,527...27,332,804 		JBrowse link
G CD36 CD36 molecule (CD36 blood group) treatment ISO protein:increased expression:erythrocyte RGD PMID:18322255 PMID:20015873 RGD:11041114 RGD:6893506 NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865 		JBrowse link
G CD40LG CD40 ligand ISO protein:increased expression:plasma (human) RGD PMID:24368019 RGD:11352270 NCBI chr  X:125,776,138...125,788,820
Ensembl chr  X:136,042,849...136,058,202 		JBrowse link
G CFB complement factor B ISO protein:decreased activity RGD PMID:10440069 PMID:12793071 RGD:11041159 RGD:11041160 NCBI chr 6:31,606,716...31,612,782 JBrowse link
G CYP2C19 cytochrome P450 family 2 subfamily C member 19 susceptibility ISO DNA:polymorphisms: :c.681 G>A,wildtype(human) RGD PMID:20831548 RGD:11352749 NCBI chr10:91,375,255...91,465,215
Ensembl chr10:94,884,472...94,970,065 		JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr16:52,977,879...52,994,496
Ensembl chr16:71,854,238...71,870,673 		JBrowse link
G F2 coagulation factor II, thrombin disease_progression ISO protein:increased expression:plasma: RGD PMID:8191393 PMID:26286849 RGD:11565074 RGD:11565080 NCBI chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157 		JBrowse link
G F3 coagulation factor III, tissue factor ISO protein:increased expression:plasma RGD PMID:15795541 RGD:11341683 NCBI chr 1:97,190,381...97,203,076
Ensembl chr 1:95,918,502...95,931,050 		JBrowse link
G GCH1 GTP cyclohydrolase 1 sexual_dimorphism ISO DNA:SNP, haplotype:rs8007267 (human) RGD PMID:24136375 RGD:329961567 NCBI chr14:35,428,676...35,489,359
Ensembl chr14:53,706,723...53,767,393 		JBrowse link
G GPX1 glutathione peroxidase 1 treatment ISO protein:decreased expression:penis RGD PMID:19951064 PMID:20846340 PMID:22620981 RGD:11352756 RGD:11352757 RGD:11352775 NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826 		JBrowse link
G GSR glutathione-disulfide reductase ISO protein:increased activity:erythrocyte: RGD PMID:14717789 RGD:11059503 NCBI chr 8:29,990,543...30,040,157
Ensembl chr 8:27,180,300...27,229,557 		JBrowse link
G HBE1 hemoglobin subunit epsilon 1 treatment ISO DNA:SNP: :rs7130110 (human) RGD PMID:12124399 PMID:23409025 RGD:11353858 RGD:11353860 NCBI chr11:5,417,347...5,419,147
Ensembl chr11:5,085,677...5,087,483 		JBrowse link
G HK1 hexokinase 1 ISO protein:alternative form:erythrocyte RGD PMID:5686464 RGD:11353884 NCBI chr10:65,786,940...65,870,204
Ensembl chr10:68,289,288...68,401,045 		JBrowse link
G HMBS hydroxymethylbilane synthase ISO protein:increased activity:erythrocyte RGD PMID:900140 RGD:12904674 NCBI chr11:113,923,004...113,931,732
Ensembl chr11:117,852,295...117,860,757 		JBrowse link
G HMOX1 heme oxygenase 1 treatment ISO RGD PMID:11238038 PMID:20306336 RGD:10755563 RGD:10755565 NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063 		JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:24281564 RGD:11046271 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371 		JBrowse link
G IL5 interleukin 5 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:25843670 RGD:11354938 NCBI chr 5:127,955,377...127,961,726
Ensembl chr 5:134,119,608...134,121,675 		JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain ISO DNA:polymorphism, haplotype RGD PMID:19254255 RGD:11041761 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272 		JBrowse link
G LOC100979149 hemoglobin subunit gamma-2 severity ISO sickle cell anemia with hereditary persistence of fetal hemoglobin, OMIM:141749 DNA:point_mutation:promoter:-158C>T, decreases the severity of the sickle cell disease which results from the presence of the Hemoglobin S allele RGD PMID:2432426 RGD:1600594 NCBI chr11:5,402,198...5,407,442 JBrowse link
G MDM2 MDM2 proto-oncogene ISO RGD PMID:21085184 RGD:10412315 NCBI chr12:66,322,340...66,357,010
Ensembl chr12:69,102,084...69,133,278 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase severity
no_association		 ISO DNA:SNP: :677C>T (human)
DNA:SNP: :1298A>C (human)		 RGD PMID:20113291 PMID:22924497 RGD:10449403 RGD:10449420 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29255069 NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085 		JBrowse link
G NOS3 nitric oxide synthase 3 severity ISO DNA:polymorphisms,haplotype:intron,cds:894G>T, -786T>C(human) RGD PMID:24088668 RGD:11533647 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233 		JBrowse link
G NPPB natriuretic peptide B severity ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:20408845 PMID:21689089 RGD:5685653 NCBI chr 1:10,621,416...10,622,960
Ensembl chr 1:11,838,518...11,839,995 		JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 severity ISO protein:increased expression:serum (human) RGD PMID:20306667 RGD:11541101 NCBI chr17:58,417,134...58,526,409
Ensembl chr17:63,511,784...63,579,067 		JBrowse link
G PGF placental growth factor ISO protein:increased expression:plasma RGD PMID:20040765 RGD:6483588 NCBI chr14:55,494,152...55,508,066
Ensembl chr14:74,338,976...74,352,964 		JBrowse link
G PON1 paraoxonase 1 ISO protein:decreased activity: serum (human) RGD PMID:24508012 RGD:11553835 NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493 		JBrowse link
G SELP selectin P ISO RGD PMID:21071696 RGD:6219007 NCBI chr 1:145,071,094...145,112,851
Ensembl chr 1:148,793,677...148,834,701 		JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO OMIM:603903 MouseDO NCBI chr 1:133,969,717...134,045,301
Ensembl chr 1:137,760,942...137,835,927 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO protein:increased expression:plasma: RGD PMID:26928604 RGD:11062147 NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum		 CTD
RGD		 PMID:8140855 PMID:14965870 RGD:10449460 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381 		JBrowse link
G UMPS uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 3:121,832,758...121,851,707
Ensembl chr 3:128,731,355...128,745,029 		JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16916123 NCBI chr 1:103,377,815...103,395,118
Ensembl chr 1:102,091,336...102,107,732 		JBrowse link
Sickle Cell Retinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SERPINF1 serpin family F member 1 ISO protein:increased expression:retinal blood vessels (human) RGD PMID:12957143 RGD:8554869 NCBI chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568 		JBrowse link
Vaso-occlusive Crisis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GSTM1 glutathione S-transferase mu 1 severity ISO associated with Anemia, Sickle Cell;DNA:deletion:: (human) RGD PMID:24840051 RGD:10450860 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G MBL2 mannose binding lectin 2 susceptibility ISO associated with Anemia, Sickle Cell;DNA:promoter,exon: RGD PMID:20172753 RGD:11530044 NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432 		JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility ISO associated with Anemia, Sickle Cell;DNA:repeats:intron: RGD PMID:25263931 RGD:11533931 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233 		JBrowse link
G PDE9A phosphodiesterase 9A treatment ISO RGD PMID:22833547 RGD:242905184 NCBI chr21:28,963,181...29,088,395
Ensembl chr21:42,275,697...42,398,681 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) ISO RGD PMID:23643401 RGD:11100023 NCBI chr17:13,131,851...13,150,872
Ensembl chr17:13,302,796...13,317,312 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15796
    disease of anatomical entity 15418
      hematopoietic system disease 3417
        blood protein disease 675
          sickle cell disease 43
            sickle cell anemia + 43
Path 2
Term Annotations click to browse term
  disease 15796
    disease of anatomical entity 15418
      Hemic and Lymphatic Diseases 3905
        hematopoietic system disease 3417
          blood protein disease 675
            sickle cell disease 43
              sickle cell anemia + 43
paths to the root