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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;   renal hypodysplasia, nonsyndromic, 1
 related_synonym: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1, SUSCEPTIBILITY TO
 primary_id: MESH:C563661
 alt_id: OMIM:610805;   RDO:0012859
For additional species annotation, visit the Alliance of Genome Resources.


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CAKUT1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dstyk dual serine/threonine and tyrosine protein kinase ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1, susceptibility to
ClinVar Annotator: match by term: Renal hypodysplasia, nonsyndromic, 1
ClinVar Annotator: match by OMIM:610805
OMIM
ClinVar
PMID:17273976, PMID:23862974, PMID:25741868, PMID:27657687, PMID:28492532, PMID:28566479 NCBI chr13:49,195,325...49,243,327
Ensembl chr13:49,195,325...49,243,316
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 NCBI chr 7:63,968,915...64,251,449
Ensembl chr 7:63,973,279...64,251,110
JBrowse link
G Upk3a uroplakin 3A ISO ClinVar Annotator: match by null ClinVar PMID:15888565, PMID:16731295 NCBI chr 7:125,920,357...125,925,430
Ensembl chr 7:125,920,357...125,925,430
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      Urogenital Diseases 4143
        urinary system disease 2066
          CAKUT 23
            CAKUT1 3
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      Urogenital Diseases 4143
        urinary system disease 2066
          ureteral disease 141
            vesicoureteral reflux 38
              CAKUT 23
                CAKUT1 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.