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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
 xref: EFO:1000041;   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 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554 		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 1:255,771,962...255,774,973
Ensembl chr 1:255,771,597...255,807,259 		JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30818366 NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743 		JBrowse link
G Alpk1 alpha-kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27542954 NCBI chr 2:216,126,939...216,247,180
Ensembl chr 2:216,128,825...216,247,157 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:30818366 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:30818366 NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547 		JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30818366 NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30818366 NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30818366 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G Hipk2 homeodomain interacting protein kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr 4:67,439,327...67,619,223
Ensembl chr 4:67,440,501...67,619,223 		JBrowse link
G Ltb4r leukotriene B4 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30818366 NCBI chr15:29,263,199...29,265,716 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 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Ptgds prostaglandin D2 synthase ISO associated with Hypertension;protein:increased expression:serum, urine RGD PMID:11882588 RGD:1642584 NCBI chr 3:8,281,899...8,284,833
Ensembl chr 3:8,281,899...8,284,833 		JBrowse link
G S100a4 S100 calcium-binding protein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30818366 NCBI chr 2:176,090,951...176,093,258
Ensembl chr 2:176,091,804...176,093,254 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30818366 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		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 chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Ace2 angiotensin converting enzyme 2 severity ISO mRNA, protein:decreased expression, increased expression:nephron tubule, kidney interstitium (human) RGD PMID:21346373 RGD:40818408 NCBI chr  X:30,293,597...30,340,961
Ensembl chr  X:30,293,589...30,340,977 		JBrowse link
G Mir214 microRNA 214 ISO RNA:increased expression:kidney RGD PMID:30049682 RGD:38500245 NCBI chr13:74,588,374...74,588,481
Ensembl chr13:74,588,372...74,588,481 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Urogenital Diseases 5218
        urinary system disease 2825
          kidney disease 2581
            nephrosclerosis 18
              Hypertensive Nephrosclerosis 3
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      cardiovascular system disease 5404
        vascular disease 4006
          artery disease 2821
            hypertension 1727
              secondary hypertension 99
                renal hypertension 99
                  nephrosclerosis 18
                    Hypertensive Nephrosclerosis 3
paths to the root