sickle cell disease - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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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	go back to main search page
Accession:	DOID:0081445	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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Rat (45) Mouse (47) Human (197) Chinchilla (39) Bonobo (43) Dog (41) Squirrel (39) Pig (41) Green Monkey (40) Naked Mole-rat (38) All
Genes (40)

acute chest syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

heme oxygenase 1

associated with Anemia, Sickle Cell;DNA:repeat:promoter

NCBI chr19:18,144,466...18,157,944
Ensembl chr19:18,144,545...18,157,971

G

glutathione S-transferase Mu 1

susceptibility

associated with sickle cell anemia;

NCBI chr20:23,854,969...23,861,634

G

nitric oxide synthase 3

susceptibility

associated with Anemia, Sickle Cell;DNA:polymorphism: :-786T>C(human)
associated with Anemia, Sickle Cell;DNA:repeats:intron:

PMID:14687036 PMID:25263931

RGD:11533931 RGD:11533934

NCBI chr21:119,174,829...119,196,840

G

vascular endothelial growth factor A

susceptibility

associated with Anemia, Sickle Cell;DNA:SNPs: : rs2010963, rs833068,rs3025020(human)
associated with Anemia, Sickle Cell;DNA:polymorphism:583C > T (human)

PMID:22925497 PMID:25130874

RGD:11075233 RGD:11075235

NCBI chr17:28,377,959...28,394,508

sickle cell anemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aminolevulinate dehydratase

protein:increased activity:erythrocyte

NCBI chr12:26,173,063...26,185,456
Ensembl chr12:26,173,096...26,189,845

G

apolipoprotein B

treatment

NCBI chr14:86,624,209...86,669,175
Ensembl chr14:86,624,332...86,668,704

G

BCL11 transcription factor A

severity
treatment

DNA:snp, haplotype:intron:c.386-24983T>C (rs4671393) (human)

PMID:18667698 PMID:21998251 PMID:22360576

RGD:11099970 RGD:11099996 RGD:11100007

NCBI chr14:46,453,102...46,553,802

G

complement C3

severity

protein:increased processing

PMID:3896597 PMID:7554454

RGD:11040773 RGD:11040777

NCBI chr 6:6,250,422...6,289,264

G

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

CTD Direct Evidence: marker/mechanism

NCBI chr14:80,371,154...80,399,193
Ensembl chr14:80,371,096...80,398,914

G

CD36 molecule (CD36 blood group)

treatment

protein:increased expression:erythrocyte

PMID:18322255 PMID:20015873

RGD:11041114 RGD:6893506

NCBI chr21:68,214,875...68,309,336
Ensembl chr21:68,216,201...68,268,669

G

CD40 ligand

protein:increased expression:plasma (human)

NCBI chr X:111,655,301...111,667,602
Ensembl chr X:111,655,397...111,666,639

G

complement factor B

protein:decreased activity

PMID:10440069 PMID:12793071

RGD:11041159 RGD:11041160

Ensembl chr17:40,069,909...40,094,207

G

cytochrome P450 family 2 subfamily C member 19

susceptibility

DNA:polymorphisms: :c.681 G>A,wildtype(human)

NCBI chr 9:87,981,300...88,025,007

G

dihydroorotate dehydrogenase (quinone)

CTD Direct Evidence: marker/mechanism

NCBI chr 5:55,161,788...55,177,383
Ensembl chr 5:55,161,916...55,180,896

G

coagulation factor III, tissue factor

protein:increased expression:plasma

NCBI chr20:38,726,690...38,738,457
Ensembl chr20:38,726,798...38,739,408

G

GTP cyclohydrolase 1

sexual_dimorphism

DNA:SNP, haplotype:rs8007267 (human)

NCBI chr24:32,029,997...32,079,656
Ensembl chr24:32,027,648...32,079,490

G

glutathione peroxidase 1

treatment

protein:decreased expression:penis

PMID:19951064 PMID:20846340 PMID:22620981

RGD:11352756 RGD:11352757 RGD:11352775

NCBI chr22:10,754,976...10,756,617

G

glutathione-disulfide reductase

protein:increased activity:erythrocyte:

NCBI chr 8:28,778,713...28,851,907

G

hemoglobin subunit epsilon 1

treatment

DNA:SNP: :rs7130110 (human)

PMID:12124399 PMID:23409025

RGD:11353858 RGD:11353860

NCBI chr 1:61,450,297...61,453,203
Ensembl chr 1:61,451,654...61,453,074

G

hexokinase 1

protein:alternative form:erythrocyte

NCBI chr 9:61,917,501...62,029,737
Ensembl chr 9:61,917,440...62,001,843

G

hydroxymethylbilane synthase

protein:increased activity:erythrocyte

NCBI chr 1:110,457,799...110,466,361
Ensembl chr 1:110,457,537...110,466,095

G

heme oxygenase 1

treatment

PMID:11238038 PMID:20306336

RGD:10755563 RGD:10755565

NCBI chr19:18,144,466...18,157,944
Ensembl chr19:18,144,545...18,157,971

G

interleukin 10

treatment

NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836

G

interleukin 5

protein:increased expression:respiratory system fluid/secretion

NCBI chr23:35,360,143...35,375,169
Ensembl chr23:35,360,506...35,362,178

G

MDM2 proto-oncogene

NCBI chr11:64,434,203...64,465,490
Ensembl chr11:64,434,261...64,469,890

G

methylenetetrahydrofolate reductase

severity
no_association

DNA:SNP: :677C>T (human)
DNA:SNP: :1298A>C (human)

PMID:20113291 PMID:22924497

RGD:10449403 RGD:10449420

NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950

G

NFE2 like bZIP transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:62,789,647...62,825,651
Ensembl chr10:62,790,124...62,825,339

G

nitric oxide synthase 3

severity

DNA:polymorphisms,haplotype:intron,cds:894G>T, -786T>C(human)

NCBI chr21:119,174,829...119,196,840

G

natriuretic peptide B

severity

CTD Direct Evidence: marker/mechanism

PMID:20408845 PMID:21689089

NCBI chr20:119,930,931...119,933,391
Ensembl chr20:119,932,021...119,933,197

G

platelet and endothelial cell adhesion molecule 1

severity

protein:increased expression:serum (human)

NCBI chr16:56,863,763...56,947,479
Ensembl chr16:56,880,934...56,950,999

G

placental growth factor

protein:increased expression:plasma

NCBI chr24:52,160,904...52,174,493
Ensembl chr24:52,161,787...52,173,989

G

paraoxonase 1

protein:decreased activity: serum (human)

NCBI chr21:53,713,434...53,739,658
Ensembl chr21:53,714,012...53,739,875

G

selectin P

NCBI chr25:59,420,910...59,465,140
Ensembl chr25:59,433,333...59,462,598

G

spectrin alpha, erythrocytic 1

OMIM:603903

NCBI chr20:5,238,246...5,314,204
Ensembl chr20:5,238,447...5,313,887

G

transforming growth factor beta 1

protein:increased expression:plasma:

NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365

G

tumor necrosis factor

protein:increased expression:serum
CTD Direct Evidence: marker/mechanism

PMID:8140855 PMID:14965870

G

uridine monophosphate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr22:56,081,897...56,097,164
Ensembl chr22:56,082,103...56,097,105

G

vascular cell adhesion molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:32,616,425...32,635,903
Ensembl chr20:32,615,333...32,635,862

Sickle Cell Retinopathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

serpin family F member 1

protein:increased expression:retinal blood vessels (human)

NCBI chr16:1,408,453...1,424,197

Vaso-occlusive Crisis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glutathione S-transferase Mu 1

severity

associated with Anemia, Sickle Cell;DNA:deletion:: (human)

NCBI chr20:23,854,969...23,861,634

G

mannose binding lectin 2

susceptibility

associated with Anemia, Sickle Cell;DNA:promoter,exon:

NCBI chr 9:78,389,534...78,394,753
Ensembl chr 9:78,389,947...78,396,079

G

nitric oxide synthase 3

susceptibility

associated with Anemia, Sickle Cell;DNA:repeats:intron:

NCBI chr21:119,174,829...119,196,840

G

phosphodiesterase 9A

treatment

NCBI chr 2:86,541,151...86,656,390
Ensembl chr 2:86,541,326...86,658,157

G

solute carrier family 4 member 1 (Diego blood group)

NCBI chr16:62,126,370...62,146,192
Ensembl chr16:62,131,709...62,146,182

Term paths to the root

Path 1
Term	Annotations
disease	15359
disease of anatomical entity	14990
hematopoietic system disease	3328
blood protein disease	661
sickle cell disease	40
sickle cell anemia +	40
Path 2
Term	Annotations
disease	15359
disease of anatomical entity	14990
Hemic and Lymphatic Diseases	3805
hematopoietic system disease	3328
blood protein disease	661
sickle cell disease	40
sickle cell anemia +	40

paths to the root