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: limb ischemia
Accession: DOID:0050852
browse the term
Definition: An ischemia that is characterized by low blood supply to tissues in the limb due to interruption in the arterial blood supply. (DO)
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ALDH1A2
aldehyde dehydrogenase 1 family member A2
ISO
RGD
PMID:26315408
RGD:14367880
NCBI chr15:36,925,443...37,038,288
Ensembl chr15:55,237,101...55,557,168
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CS
citrate synthase
ISO
RGD
PMID:571116
RGD:243049254
NCBI chr12:32,614,982...32,643,719
Ensembl chr12:32,867,225...32,895,854
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CSF2
colony stimulating factor 2
ISO
protein:increased expression:plasma:
RGD
PMID:16648859
RGD:10449511
NCBI chr 5:127,496,951...127,499,325
Ensembl chr 5:133,660,775...133,663,146
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CSF3
colony stimulating factor 3
treatment
ISO
RGD
PMID:16224058 PMID:23294128
RGD:10400895 RGD:11039414
NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729
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DLL4
delta like canonical Notch ligand 4
exacerbates ameliorates
ISO
RGD
PMID:20508179 PMID:22252294 PMID:35301145
RGD:155641249 RGD:155663358 RGD:155663375
NCBI chr15:19,871,584...19,881,817
Ensembl chr15:38,121,574...38,129,471
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EPO
erythropoietin
treatment
ISO
RGD
PMID:23294128
RGD:10400895
NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974
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ETV2
ETS variant transcription factor 2
exacerbates ameliorates
ISO
RGD
PMID:26586661 PMID:28424975 PMID:28466428 PMID:32075417
RGD:11076207 RGD:156451664 RGD:192186227 RGD:192379484
NCBI chr19:32,571,829...32,575,083
Ensembl chr19:41,307,864...41,311,004
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FGFR1
fibroblast growth factor receptor 1
treatment
ISO
RGD
PMID:25388665
RGD:11568031
NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904
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GRK2
G protein-coupled receptor kinase 2
treatment
ISO
RGD
PMID:26604244
RGD:13514042
NCBI chr11:62,624,647...62,644,846
Ensembl chr11:65,939,164...65,959,066
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HGF
hepatocyte growth factor
treatment
ISO
RGD
PMID:15238569
RGD:8548639
NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811
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HIF1A
hypoxia inducible factor 1 subunit alpha
ISO
protein:increased expression:skeletal muscle
RGD
PMID:17522350
RGD:1626332
NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885
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HMOX1
heme oxygenase 1
ISO
RGD
PMID:12593860
RGD:1598394
NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063
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ITGAM
integrin subunit alpha M
ISO
protein:increased expression:monocyte (human)
RGD
PMID:20816321
RGD:329901827
NCBI chr16:23,634,476...23,707,147
Ensembl chr16:31,630,146...31,702,406
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ITGAV
integrin subunit alpha V
ISO
RGD
PMID:15750161
RGD:1582449
NCBI chr2B:73,880,962...73,972,486
Ensembl chr2B:191,680,655...191,773,028
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NOS3
nitric oxide synthase 3
treatment
ISO
associated with Diabetes Mellitus, Experimental human gene in rat model
RGD
PMID:12171788 PMID:19080171 PMID:28979692
RGD:13450931 RGD:7794710 RGD:7794776
NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
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PECAM1
platelet and endothelial cell adhesion molecule 1
ISO
RGD
PMID:21940947 PMID:22369073
RGD:6767285 RGD:6906905
NCBI chr17:58,417,134...58,526,409
Ensembl chr17:63,511,784...63,579,067
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PPBP
pro-platelet basic protein
ISO
protein:increased expression:plasma
RGD
PMID:30638058
RGD:401794451
NCBI chr 4:50,203,168...50,204,303
Ensembl chr 4:56,035,060...56,037,702
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PTGIS
prostaglandin I2 synthase
treatment
ISO
rat gene in human cells in a mouse model human gene in a mouse model
RGD
PMID:12586736 PMID:14568901 PMID:19344900
RGD:401959585 RGD:401960079 RGD:401960096
NCBI chr20:45,841,238...45,905,641
Ensembl chr20:46,905,665...46,971,612
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PTPN1
protein tyrosine phosphatase non-receptor type 1
ISO
protein:increased expression, increased activity:hindlimb muscle (mouse)
RGD
PMID:18451337
RGD:401965417
NCBI chr20:46,854,918...46,929,509
Ensembl chr20:47,983,098...48,057,421
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VEGFA
vascular endothelial growth factor A
treatment
ISO
RGD
PMID:23562340
RGD:7421600
NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
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GPT
glutamic--pyruvic transaminase
treatment
ISO
RGD
PMID:36495512
RGD:401717522
Ensembl chr 8:144,259,991...144,263,737
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