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 (39)

sickle cell disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hemoglobin subunit beta

ClinVar Annotator: match by term: Sickle cell disease

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

NCBI chrNW_004955414:21,188,012...21,189,363

acute chest syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hemoglobin subunit beta

DNA:SNPs, haplotypes

NCBI chrNW_004955414:21,188,012...21,189,363

G

heme oxygenase 1

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

NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979

G

nitric oxide synthase 3

susceptibility

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

PMID:14687036 PMID:25263931

RGD:11533931 RGD:11533934

NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814

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 chrNW_004955437:9,527,445...9,541,908

Hemoglobin SC Disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hemoglobin subunit beta

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

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

NCBI chrNW_004955414:21,188,012...21,189,363

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 chrNW_004955419:14,093,010...14,104,376
Ensembl chrNW_004955419:14,093,010...14,104,545

G

apolipoprotein B

treatment

NCBI chrNW_004955469:3,437,422...3,478,408
Ensembl chrNW_004955469:3,436,450...3,478,424

G

BCL11 transcription factor A

treatment
severity

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

PMID:18667698 PMID:21998251 PMID:22360576

RGD:11099970 RGD:11099996 RGD:11100007

NCBI chrNW_004955424:23,233,523...23,330,679
Ensembl chrNW_004955424:23,233,523...23,330,679

G

complement C3

severity

protein:increased processing

PMID:3896597 PMID:7554454

RGD:11040773 RGD:11040777

NCBI chrNW_004955495:2,796,601...2,824,233
Ensembl chrNW_004955495:2,796,663...2,824,697

G

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955469:9,203,433...9,227,526
Ensembl chrNW_004955469:9,203,434...9,227,865

G

CD36 molecule (CD36 blood group)

treatment

protein:increased expression:erythrocyte

PMID:18322255 PMID:20015873

RGD:11041114 RGD:6893506

NCBI chrNW_004955410:5,003,720...5,120,903
Ensembl chrNW_004955410:5,003,668...5,075,313

G

CD40 ligand

protein:increased expression:plasma (human)

NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746

G

complement factor B

protein:decreased activity

PMID:10440069 PMID:12793071

RGD:11041159 RGD:11041160

NCBI chrNW_004955437:461,235...466,908
Ensembl chrNW_004955437:461,235...470,464

G

dihydroorotate dehydrogenase (quinone)

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955484:4,699,743...4,713,466
Ensembl chrNW_004955484:4,699,722...4,713,466

G

coagulation factor II, thrombin

disease_progression

protein:increased expression:plasma:

PMID:8191393 PMID:26286849

RGD:11565074 RGD:11565080

NCBI chrNW_004955422:1,356,675...1,367,788
Ensembl chrNW_004955422:1,356,769...1,367,517

G

coagulation factor III, tissue factor

protein:increased expression:plasma

NCBI chrNW_004955423:254,060...264,448
Ensembl chrNW_004955423:254,189...264,159

G

GTP cyclohydrolase 1

sexual_dimorphism

DNA:SNP, haplotype:rs8007267 (human)

NCBI chrNW_004955409:8,624,225...8,670,436
Ensembl chrNW_004955409:8,624,468...8,668,614

G

glutathione peroxidase 1

treatment

protein:decreased expression:penis

PMID:19951064 PMID:20846340 PMID:22620981

RGD:11352756 RGD:11352757 RGD:11352775

NCBI chrNW_004955532:1,298,336...1,298,830

G

glutathione-disulfide reductase

protein:increased activity:erythrocyte:

NCBI chrNW_004955463:7,130,459...7,153,631
Ensembl chrNW_004955463:7,131,364...7,153,583

G

hemoglobin subunit beta

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 chrNW_004955414:21,188,012...21,189,363

G

hexokinase 1

protein:alternative form:erythrocyte

NCBI chrNW_004955437:21,733,314...21,824,303
Ensembl chrNW_004955437:21,731,584...21,816,324

G

hydroxymethylbilane synthase

protein:increased activity:erythrocyte

NCBI chrNW_004955412:20,192,519...20,202,635
Ensembl chrNW_004955412:20,192,522...20,202,635

G

heme oxygenase 1

treatment

PMID:11238038 PMID:20306336

RGD:10755563 RGD:10755565

NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979

G

interleukin 10

treatment

NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779

G

interleukin 5

protein:increased expression:respiratory system fluid/secretion

NCBI chrNW_004955408:3,937,128...3,951,784
Ensembl chrNW_004955408:3,937,894...3,939,358

G

MDM2 proto-oncogene

NCBI chrNW_004955458:15,264,028...15,287,290
Ensembl chrNW_004955458:15,263,739...15,286,808

G

methylenetetrahydrofolate reductase

no_association
severity

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

PMID:20113291 PMID:22924497

RGD:10449403 RGD:10449420

NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240

G

NFE2 like bZIP transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955403:19,510,122...19,536,428
Ensembl chrNW_004955403:19,532,103...19,535,944

G

nitric oxide synthase 3

severity

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

NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814

G

natriuretic peptide B

severity

CTD Direct Evidence: marker/mechanism

PMID:20408845 PMID:21689089

NCBI chrNW_004955486:2,054,775...2,056,130

G

platelet and endothelial cell adhesion molecule 1

severity

protein:increased expression:serum (human)

NCBI chrNW_004955478:7,448,584...7,531,860
Ensembl chrNW_004955478:7,478,492...7,531,188

G

placental growth factor

protein:increased expression:plasma

NCBI chrNW_004955523:616,196...627,055
Ensembl chrNW_004955523:616,154...627,713

G

paraoxonase 1

protein:decreased activity: serum (human)

NCBI chrNW_004955432:11,893,473...11,923,035
Ensembl chrNW_004955432:11,893,473...11,923,339

G

selectin P

NCBI chrNW_004955462:7,658,371...7,692,870
Ensembl chrNW_004955462:7,652,437...7,693,994

G

spectrin alpha, erythrocytic 1

OMIM:603903

NCBI chrNW_004955468:10,472,601...10,545,402
Ensembl chrNW_004955468:10,472,671...10,545,313

G

transforming growth factor beta 1

protein:increased expression:plasma:

NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441

G

tumor necrosis factor

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

PMID:8140855 PMID:14965870

NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700

G

uridine monophosphate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955427:23,825,529...23,841,427
Ensembl chrNW_004955427:23,825,523...23,841,152

G

vascular cell adhesion molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955435:5,390,745...5,410,025
Ensembl chrNW_004955435:5,390,751...5,411,691

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 chrNW_004955481:1,414,930...1,426,436
Ensembl chrNW_004955481:1,414,930...1,426,241

Sickle Cell Trait

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hemoglobin subunit beta

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

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

NCBI chrNW_004955414:21,188,012...21,189,363

Vaso-occlusive Crisis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mannose binding lectin 2

susceptibility

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

NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006

G

nitric oxide synthase 3

susceptibility

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

NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814

G

phosphodiesterase 9A

treatment

NCBI chrNW_004955407:39,090,718...39,165,363
Ensembl chrNW_004955407:39,087,952...39,165,370

G

solute carrier family 4 member 1 (Diego blood group)

NCBI chrNW_004955451:17,318,600...17,330,943
Ensembl chrNW_004955451:17,315,024...17,328,103

Term paths to the root

Path 1
Term	Annotations
disease	14291
disease of anatomical entity	13955
hematopoietic system disease	3118
blood protein disease	614
sickle cell disease	39
sickle cell anemia +	39
Path 2
Term	Annotations
disease	14291
disease of anatomical entity	13955
Hemic and Lymphatic Diseases	3567
hematopoietic system disease	3118
blood protein disease	614
sickle cell disease	39
sickle cell anemia +	39

paths to the root