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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Genes (41)

sickle cell disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hemoglobin subunit beta-like

ClinVar Annotator: match by term: Sickle cell disease

PMID:14973 PMID:81926 PMID:88735 PMID:429843 PMID:721614 More...

NCBI chr21:28,187,535...28,188,991

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 chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773

G

hemoglobin subunit beta-like

DNA:SNPs, haplotypes

NCBI chr21:28,187,535...28,188,991

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 chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277

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 chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965

Hemoglobin SC Disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hemoglobin subunit beta-like

ClinVar Annotator: match by term: Sickle cell-hemoglobin C disease

PMID:81926 PMID:909565 PMID:1301203 PMID:1376298 PMID:1680789 More...

NCBI chr21:28,187,535...28,188,991

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 chr11:67,736,643...67,752,399
Ensembl chr11:67,741,390...67,752,321

G

apolipoprotein B

treatment

NCBI chr17:15,877,937...15,916,032
Ensembl chr17:15,878,244...15,915,135

G

B9 domain containing 2

protein:increased expression:plasma:

NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885

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 chr10:60,589,298...60,691,997
Ensembl chr10:60,589,708...60,689,073

G

complement C3

severity

protein:increased processing

PMID:3896597 PMID:7554454

RGD:11040773 RGD:11040777

NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761

G

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

CTD Direct Evidence: marker/mechanism

NCBI chr17:21,198,839...21,221,897
Ensembl chr17:21,197,826...21,221,635

G

CD36 molecule (CD36 blood group)

treatment

protein:increased expression:erythrocyte

PMID:18322255 PMID:20015873

RGD:11041114 RGD:6893506

NCBI chr18:20,299,808...20,375,856
Ensembl chr18:20,339,050...20,372,639

G

CD40 ligand

protein:increased expression:plasma (human)

NCBI chr X:107,001,421...107,023,007
Ensembl chr X:107,010,890...107,023,006

G

complement factor B

protein:decreased activity

PMID:10440069 PMID:12793071

RGD:11041159 RGD:11041160

NCBI chr12:1,400,143...1,406,267

G

dihydroorotate dehydrogenase (quinone)

CTD Direct Evidence: marker/mechanism

NCBI chr 5:77,756,411...77,766,207
Ensembl chr 5:77,756,407...77,774,090

G

major histocompatibility complex, class II, DQ beta 1

DNA:polymorphism, haplotype

NCBI chr12:2,305,307...2,307,711

G

coagulation factor II, thrombin

disease_progression

protein:increased expression:plasma:

PMID:8191393 PMID:26286849

RGD:11565074 RGD:11565080

NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459

G

coagulation factor III, tissue factor

protein:increased expression:plasma

NCBI chr 6:54,709,581...54,720,603
Ensembl chr 6:54,708,471...54,720,607

G

GTP cyclohydrolase 1

sexual_dimorphism

DNA:SNP, haplotype:rs8007267 (human)

NCBI chr 8:30,733,422...30,784,067
Ensembl chr 8:30,732,608...30,784,156

G

glutathione peroxidase 1

treatment

protein:decreased expression:penis

PMID:19951064 PMID:20846340 PMID:22620981

RGD:11352756 RGD:11352757 RGD:11352775

NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260

G

glutathione-disulfide reductase

protein:increased activity:erythrocyte:

NCBI chr16:33,633,949...33,680,411
Ensembl chr16:33,633,968...33,679,752

G

hexokinase 1

protein:alternative form:erythrocyte

NCBI chr 4:20,396,761...20,516,889
Ensembl chr 4:20,421,526...20,518,211

G

hydroxymethylbilane synthase

protein:increased activity:erythrocyte

NCBI chr 5:14,767,306...14,775,205
Ensembl chr 5:14,767,666...14,775,082

G

heme oxygenase 1

treatment

PMID:11238038 PMID:20306336

RGD:10755563 RGD:10755565

NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773

G

interleukin 10

treatment

NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057

G

interleukin 5

protein:increased expression:respiratory system fluid/secretion

NCBI chr11:20,825,469...20,827,269
Ensembl chr11:20,825,469...20,827,269

G

hemoglobin subunit epsilon-2

severity

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

NCBI chr21:28,193,163...28,194,746

G

hemoglobin subunit beta-like

ClinVar Annotator: match by term: HEMOGLOBIN D (IRAN) | ClinVar Annotator: match by term: HEMOGLOBIN ROCKFORD | ClinVar Annotator: match by term: Hemoglobin S Disease | ClinVar Annotator: match by term: Sickle cell disease | ClinVar Annotator: match by term: Sickling disorder due to hemoglobin S
ClinVar Annotator: match by term: HEMOGLOBIN D (IRAN) | ClinVar Annotator: match by term: HEMOGLOBIN KORLE-BU | ClinVar Annotator: match by term: HEMOGLOBIN ROCKFORD | ClinVar Annotator: match by term: Hemoglobin S Disease | ClinVar Annotator: match by term: Sickling disorder due to hemoglobin S

PMID:14973 PMID:49057 PMID:81926 PMID:88735 PMID:429843 More...

NCBI chr21:28,187,535...28,188,991

G

MDM2 proto-oncogene

NCBI chr10:10,936,288...10,963,118
Ensembl chr10:10,893,719...10,962,596

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 chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818

G

NFE2 like bZIP transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr36:20,989,205...21,087,044
Ensembl chr36:20,989,360...21,012,524

G

nitric oxide synthase 3

severity

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

NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277

G

natriuretic peptide B

severity

CTD Direct Evidence: marker/mechanism

PMID:20408845 PMID:21689089

NCBI chr 2:84,395,844...84,397,473

G

platelet and endothelial cell adhesion molecule 1

severity

protein:increased expression:serum (human)

NCBI chr 9:12,166,124...12,219,553
Ensembl chr 9:12,166,775...12,219,778

G

placental growth factor

protein:increased expression:plasma

NCBI chr 8:48,059,554...48,110,534
Ensembl chr 8:48,059,552...48,075,170

G

paraoxonase 1

protein:decreased activity: serum (human)

NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985

G

selectin P

NCBI chr 7:28,956,428...28,997,266
Ensembl chr 7:28,958,486...28,996,313

G

spectrin alpha, erythrocytic 1

OMIM:603903

NCBI chr38:23,052,046...23,118,933
Ensembl chr38:23,051,563...23,118,966

G

tumor necrosis factor

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

PMID:8140855 PMID:14965870

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

G

uridine monophosphate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr33:27,754,592...27,782,517
Ensembl chr33:27,754,643...27,782,514

G

vascular cell adhesion molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:49,341,669...49,359,841
Ensembl chr 6:49,342,151...49,359,933

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 chr 9:45,891,368...45,902,768
Ensembl chr 9:45,891,410...45,902,765

Sickle Cell Trait

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hemoglobin subunit beta-like

ClinVar Annotator: match by term: HEMOGLOBIN D (IBADAN)

PMID:284392 PMID:974261 PMID:1891024 PMID:5097135 PMID:5481775 More...

NCBI chr21:28,187,535...28,188,991

Vaso-occlusive Crisis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mannose binding lectin 1

susceptibility

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

NCBI chr 4:29,419,886...29,424,377

G

nitric oxide synthase 3

susceptibility

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

NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277

G

phosphodiesterase 9A

treatment

NCBI chr31:36,949,777...37,036,237
Ensembl chr31:36,949,723...37,035,809

G

solute carrier family 4 member 1

NCBI chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915

Term paths to the root

Path 1
Term	Annotations
disease	15698
disease of anatomical entity	15287
hematopoietic system disease	3378
blood protein disease	667
sickle cell disease	41
sickle cell anemia +	41
Path 2
Term	Annotations
disease	15698
disease of anatomical entity	15287
Hemic and Lymphatic Diseases	3872
hematopoietic system disease	3378
blood protein disease	667
sickle cell disease	41
sickle cell anemia +	41

paths to the root