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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 HMOX1 heme oxygenase 1 ISO associated with Anemia, Sickle Cell;DNA:repeat:promoter RGD PMID:22966170 RGD:10755560
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 chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943 		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 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366 		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 1:254,015,426...254,027,584
Ensembl chr 1:254,012,850...254,027,508 		JBrowse link
G APOB apolipoprotein B treatment ISO RGD PMID:24035168 RGD:11354943 NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200 		JBrowse link
G BCL11A BCL11 transcription factor A treatment
severity		 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 chr 3:81,195,217...81,296,165
Ensembl chr 3:81,196,294...81,296,382 		JBrowse link
G C3 complement C3 severity ISO protein:increased processing RGD PMID:3896597 PMID:7554454 RGD:11040773 RGD:11040777 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228 		JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 3:111,887,017...111,914,511
Ensembl chr 3:111,887,020...111,914,492 		JBrowse link
G CD36 CD36 molecule treatment ISO protein:increased expression:erythrocyte RGD PMID:18322255 PMID:20015873 RGD:11041114 RGD:6893506 NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105 		JBrowse link
G CD40LG CD40 ligand ISO protein:increased expression:plasma (human) RGD PMID:24368019 RGD:11352270 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,709 		JBrowse link
G CFB complement factor B ISO protein:decreased activity RGD PMID:10440069 PMID:12793071 RGD:11041159 RGD:11041160 NCBI chr 7:24,034,077...24,040,523
Ensembl chr 7:24,033,740...24,041,179 		JBrowse link
G CYP2C49 cytochrome P450 2C49 susceptibility ISO DNA:polymorphisms: :c.681 G>A,wildtype(human) RGD PMID:20831548 RGD:11352749 NCBI chr14:106,571,803...106,612,082
Ensembl chr14:106,285,173...106,612,455 		JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 6:14,942,898...14,956,000
Ensembl chr 6:14,942,933...14,955,997 		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 chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137 		JBrowse link
G F3 coagulation factor III, tissue factor ISO protein:increased expression:plasma RGD PMID:15795541 RGD:11341683 NCBI chr 4:122,827,018...122,837,673
Ensembl chr 4:122,826,644...122,837,666 		JBrowse link
G GCH1 GTP cyclohydrolase 1 sexual_dimorphism ISO DNA:SNP, haplotype:rs8007267 (human) RGD PMID:24136375 RGD:329961567 NCBI chr 1:184,201,232...184,264,060
Ensembl chr 1:184,199,679...184,257,315 		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 chr13:31,916,269...31,917,337
Ensembl chr13:31,916,246...31,917,433 		JBrowse link
G GSR glutathione-disulfide reductase ISO protein:increased activity:erythrocyte: RGD PMID:14717789 RGD:11059503 NCBI chr15:54,382,564...54,433,989
Ensembl chr15:54,382,567...54,433,984 		JBrowse link
G HBE1 hemoglobin subunit epsilon 1 treatment ISO DNA:SNP: :rs7130110 (human) RGD PMID:12124399 PMID:23409025 RGD:11353858 RGD:11353860 NCBI chr 9:4,818,206...4,820,243
Ensembl chr 9:4,817,748...4,820,243 		JBrowse link
G HK1 hexokinase 1 ISO protein:alternative form:erythrocyte RGD PMID:5686464 RGD:11353884 NCBI chr14:72,383,328...72,460,927
Ensembl chr14:72,351,246...72,460,924 		JBrowse link
G HMBS hydroxymethylbilane synthase ISO protein:increased activity:erythrocyte RGD PMID:900140 RGD:12904674 NCBI chr 9:46,300,039...46,308,681
Ensembl chr 9:46,300,050...46,308,868 		JBrowse link
G HMOX1 heme oxygenase 1 treatment ISO RGD PMID:11238038 PMID:20306336 RGD:10755563 RGD:10755565
G HP haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr 6:14,980,382...14,985,245 JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:24281564 RGD:11046271 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378 		JBrowse link
G IL5 interleukin 5 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:25843670 RGD:11354938 NCBI chr 2:134,832,143...134,846,141
Ensembl chr 2:134,832,147...134,835,212 		JBrowse link
G MDM2 MDM2 proto-oncogene ISO RGD PMID:21085184 RGD:10412315 NCBI chr 5:33,105,717...33,137,602
Ensembl chr 5:33,105,759...33,137,739 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase no_association
severity		 ISO DNA:SNP: :677C>T (human)
DNA:SNP: :1298A>C (human)		 RGD PMID:20113291 PMID:22924497 RGD:10449403 RGD:10449420 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29255069 NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,656...83,146,183 		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 chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943 		JBrowse link
G NPPB natriuretic peptide B severity ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:20408845 PMID:21689089 RGD:5685653 NCBI chr 6:71,930,374...71,931,843
Ensembl chr 6:71,930,382...71,932,254 		JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 severity ISO protein:increased expression:serum (human) RGD PMID:20306667 RGD:11541101 NCBI chr12:14,667,643...14,723,296
Ensembl chr12:14,649,044...14,723,293 		JBrowse link
G PGF placental growth factor ISO protein:increased expression:plasma RGD PMID:20040765 RGD:6483588 NCBI chr 7:98,149,510...98,162,784
Ensembl chr 7:98,148,994...98,162,741 		JBrowse link
G PON1 paraoxonase 1 ISO protein:decreased activity: serum (human) RGD PMID:24508012 RGD:11553835 NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723 		JBrowse link
G SELP selectin P ISO RGD PMID:21071696 RGD:6219007 NCBI chr 4:81,376,804...81,401,240
Ensembl chr 4:81,365,740...81,399,955 		JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO OMIM:603903 MouseDO NCBI chr 4:91,573,470...91,640,057
Ensembl chr 4:91,485,067...91,640,063 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO protein:increased expression:plasma: RGD PMID:26928604 RGD:11062147 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046 		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 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
G UMPS uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr13:135,611,857...135,650,656
Ensembl chr13:135,610,058...135,650,603 		JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16916123 NCBI chr 4:117,496,914...117,511,211
Ensembl chr 4:117,496,920...117,511,222 		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 chr12:47,949,004...47,959,471
Ensembl chr12:47,948,510...47,959,470 		JBrowse link
Sickle Cell Trait term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HP haptoglobin ISO RGD PMID:19023114 PMID:21595649 RGD:5147416 RGD:5147440 NCBI chr 6:14,980,382...14,985,245 JBrowse link
Vaso-occlusive Crisis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MBL2 mannose binding lectin 2 susceptibility ISO associated with Anemia, Sickle Cell;DNA:promoter,exon: RGD PMID:20172753 RGD:11530044 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083 		JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility ISO associated with Anemia, Sickle Cell;DNA:repeats:intron: RGD PMID:25263931 RGD:11533931 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943 		JBrowse link
G PDE9A phosphodiesterase 9A treatment ISO RGD PMID:22833547 RGD:242905184 NCBI chr13:205,938,342...206,034,981
Ensembl chr13:205,938,348...206,034,976 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 ISO RGD PMID:23643401 RGD:11100023 NCBI chr12:18,957,813...18,975,266
Ensembl chr12:18,957,807...18,974,208 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15386
    disease of anatomical entity 15026
      hematopoietic system disease 3327
        blood protein disease 653
          sickle cell disease 41
            sickle cell anemia + 41
Path 2
Term Annotations click to browse term
  disease 15386
    disease of anatomical entity 15026
      Hemic and Lymphatic Diseases 3804
        hematopoietic system disease 3327
          blood protein disease 653
            sickle cell disease 41
              sickle cell anemia + 41
paths to the root