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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:nephrosclerosis
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Accession:DOID:11664 term browser browse the term
Definition:Hardening of the KIDNEY due to infiltration by fibrous connective tissue (FIBROSIS), usually caused by renovascular diseases or chronic HYPERTENSION. Nephrosclerosis leads to renal ISCHEMIA.
Synonyms:exact_synonym: Nephroscleroses;   renal sclerosis
 primary_id: MESH:D009400
 alt_id: RDO:0006201
 xref: GARD:7179;   ICD10CM:I12;   ICD10CM:N26.9;   ICD9CM:587
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
nephrosclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:30818366 NCBI chr 1:252,537,614...252,550,394
Ensembl chr 1:252,537,615...252,550,394
JBrowse link
G Adrb1 adrenoceptor beta 1 disease_progression ISO associated with hypertension;DNA:missense mutations, haplotype:cds:p.S49G(rs1801252),p.R389G (rs1801253)(human): RGD PMID:19745105 RGD:7241815 NCBI chr 1:277,537,585...277,538,985
Ensembl chr 1:277,537,585...277,538,985
JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30818366 NCBI chr 4:148,398,004...148,446,308
Ensembl chr 4:148,398,892...148,446,303
JBrowse link
G Alpk1 alpha-kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27542954 NCBI chr 2:231,997,360...232,117,471
Ensembl chr 2:231,996,088...232,117,134
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:30818366 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:30818366 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30818366 NCBI chr 4:149,261,044...149,273,891
Ensembl chr 4:149,261,044...149,273,891
JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30818366 NCBI chr13:45,314,952...45,318,856
Ensembl chr13:45,314,933...45,318,878
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30818366 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Hipk2 homeodomain interacting protein kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr 4:66,438,390...66,625,183
Ensembl chr 4:66,445,266...66,624,912
JBrowse link
G Ltb4r leukotriene B4 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30818366 NCBI chr15:34,449,299...34,453,352
Ensembl chr15:34,452,116...34,453,171
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) RGD PMID:21613384 RGD:6893469 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Ptgds prostaglandin D2 synthase ISO associated with Hypertension;protein:increased expression:serum, urine RGD PMID:11882588 RGD:1642584 NCBI chr 3:2,686,125...2,689,059
Ensembl chr 3:2,686,123...2,689,084
JBrowse link
G S100a4 S100 calcium-binding protein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30818366 NCBI chr 2:189,997,278...189,999,587
Ensembl chr 2:189,997,129...189,999,604
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30818366 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
Hypertensive Nephrosclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme treatment
severity
IMP
ISO
protein:increased expression:nephron tubule, kidney interstitium (human) RGD PMID:10580398, PMID:21346373 RGD:12879397, RGD:40818408 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Ace2 angiotensin I converting enzyme 2 severity ISO mRNA, protein:decreased expression, increased expression:nephron tubule, kidney interstitium (human) RGD PMID:21346373 RGD:40818408 NCBI chr  X:32,050,734...32,095,860
Ensembl chr  X:32,049,931...32,096,016
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      Urogenital Diseases 4143
        urinary system disease 2071
          kidney disease 1856
            nephrosclerosis 17
              Hypertensive Nephrosclerosis 2
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      cardiovascular system disease 4369
        vascular disease 3313
          artery disease 2364
            hypertension 1494
              secondary hypertension 86
                renal hypertension 86
                  nephrosclerosis 17
                    Hypertensive Nephrosclerosis 2
paths to the root