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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:CAKUT1
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Accession:DOID:0080206 term browser browse the term
Definition:A CAKUT that has_material_basis_in heterozygous mutation in the DSTYK gene on chromosome 1q32. (DO)
Synonyms:exact_synonym: RHDNS1;   congenital anomalies of kidney and urinary tract 1;   congenital anomalies of the kidney and urinary tract 1;   nonsyndromic renal hypodysplasia 1
 related_synonym: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1, SUSCEPTIBILITY TO
 primary_id: MESH:C563661
 alt_id: OMIM:610805


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CAKUT1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnase1 deoxyribonuclease 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1 ClinVar PMID:24152966 PMID:28710113 PMID:35765067 NCBI chr10:11,498,930...11,505,151
Ensembl chr10:11,498,931...11,501,869 		JBrowse link
G Dstyk dual serine/threonine and tyrosine protein kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:17273976 PMID:17576681 PMID:23862974 PMID:25741868 More... NCBI chr13:43,857,266...43,905,280
Ensembl chr13:43,857,266...43,905,269 		JBrowse link
G Srgap1 SLIT-ROBO Rho GTPase activating protein 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1, susceptibility to ClinVar PMID:25741868 PMID:26026792 PMID:30143558 NCBI chr 7:57,329,532...57,594,681
Ensembl chr 7:57,329,532...57,596,196 		JBrowse link
G Trap1 TNF receptor-associated protein 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1 ClinVar PMID:24152966 PMID:28710113 PMID:35765067 NCBI chr10:11,464,882...11,498,931
Ensembl chr10:11,464,821...11,498,981 		JBrowse link
G Upk3a uroplakin 3A ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1 ClinVar PMID:15888565 PMID:16731295 NCBI chr 7:116,128,981...116,139,950
Ensembl chr 7:116,134,874...116,139,948 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21108
    disease of anatomical entity 18147
      Urogenital Diseases 5119
        urinary system disease 2751
          CAKUT 57
            CAKUT1 5
Path 2
Term Annotations click to browse term
  disease 21108
    disease of anatomical entity 18147
      Urogenital Diseases 5119
        urinary system disease 2751
          ureteral disease 171
            vesicoureteral reflux 69
              CAKUT 57
                CAKUT1 5
paths to the root