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CAKUT2 - Ontology Report - Rat Genome Database

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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:CAKUT2
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Accession:DOID:0080207 term browser browse the term
Definition:A CAKUT that has_material_basis_in heterozygous mutation in the TBX18 gene on chromosome 6q14. (DO)
Synonyms:exact_synonym: Congenital anomalies of the kidney and urinary tract 2;   Hydronephrosis Due To Pujo;   MCRD;   Multicystic Renal Dysplasia, Bilateral;   PUJO;   Pelvi-ureteric junction obstruction;   Pelviureteric Junction Obstruction;   UPJO;   congenital anomalies of kidney and urinary tract 2
 broad_synonym: TBX18-related condition
 related_synonym: ureteropelvic junction obstruction
 primary_id: MESH:C537373
 alt_id: MIM:143400

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CAKUT2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Bmp4 bone morphogenetic protein 4 ISO DNA:mutations:cds: c.485G> A (p.R162Q), c.1167T> C(human) RGD PMID:21927809 RGD:13446406 NCBI chrNW_004624731:15,262,480...15,269,196
Ensembl chrNW_004624731:15,263,274...15,269,743 		JBrowse link
G G BMP4 bone morphogenetic protein 4 ISO DNA:mutations:cds: c.485G> A (p.R162Q), c.1167T> C(human) RGD PMID:21927809 RGD:13446406 NCBI chr24:31,097,673...31,104,774
Ensembl chr24:31,097,538...31,101,225 		JBrowse link
G P BMP4 bone morphogenetic protein 4 ISO DNA:mutations:cds: c.485G> A (p.R162Q), c.1167T> C(human) RGD PMID:21927809 RGD:13446406 NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637 		JBrowse link
G S Bmp4 bone morphogenetic protein 4 ISO DNA:mutations:cds: c.485G> A (p.R162Q), c.1167T> C(human) RGD PMID:21927809 RGD:13446406 NCBI chrNW_004936697:1,054,237...1,061,468
Ensembl chrNW_004936697:1,056,636...1,061,468 		JBrowse link
G D BMP4 bone morphogenetic protein 4 ISO DNA:mutations:cds: c.485G> A (p.R162Q), c.1167T> C(human) RGD PMID:21927809 RGD:13446406 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557 		JBrowse link
G B BMP4 bone morphogenetic protein 4 ISO DNA:mutations:cds: c.485G> A (p.R162Q), c.1167T> C(human) RGD PMID:21927809 RGD:13446406 NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752 		JBrowse link
G C Bmp4 bone morphogenetic protein 4 ISO DNA:mutations:cds: c.485G> A (p.R162Q), c.1167T> C(human) RGD PMID:21927809 RGD:13446406 NCBI chrNW_004955409:9,432,835...9,439,680
Ensembl chrNW_004955409:9,432,841...9,440,303 		JBrowse link
G R Bmp4 bone morphogenetic protein 4 ISO DNA:mutations:cds: c.485G> A (p.R162Q), c.1167T> C(human) RGD PMID:21927809 RGD:13446406 NCBI chr15:22,098,191...22,113,145
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G M Bmp4 bone morphogenetic protein 4 ISO DNA:mutations:cds: c.485G> A (p.R162Q), c.1167T> C(human) RGD PMID:21927809 RGD:13446406 NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126 		JBrowse link
G H BMP4 bone morphogenetic protein 4 IAGP DNA:mutations:cds: c.485G> A (p.R162Q), c.1167T> C(human) RGD PMID:21927809 RGD:13446406 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G N Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713 		JBrowse link
G G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712 		JBrowse link
G P MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G S Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793 		JBrowse link
G D MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293 		JBrowse link
G B MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129 		JBrowse link
G C Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288 		JBrowse link
G R Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G M Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G H MMP9 matrix metallopeptidase 9 treatment IEP RGD PMID:27448803 RGD:13204792 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G N Tbx18 T-box transcription factor 18 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 2 | ClinVar Annotator: match by term: Pelvi-ureteric junction obstruction | ClinVar Annotator: match by term: TBX18-related condition OMIM
ClinVar		 PMID:25741868 PMID:25741890 PMID:26235987 PMID:28492532 PMID:30143558 NCBI chrNW_004624799:9,694,167...9,721,468
Ensembl chrNW_004624799:9,694,374...9,719,385 		JBrowse link
G G TBX18 T-box transcription factor 18 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 2 | ClinVar Annotator: match by term: Pelvi-ureteric junction obstruction | ClinVar Annotator: match by term: TBX18-related condition OMIM
ClinVar		 PMID:25741868 PMID:25741890 PMID:26235987 PMID:28492532 PMID:30143558 NCBI chr13:9,407,384...9,441,157
Ensembl chr13:9,411,004...9,439,642 		JBrowse link
G P TBX18 T-box transcription factor 18 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 2 | ClinVar Annotator: match by term: Pelvi-ureteric junction obstruction | ClinVar Annotator: match by term: TBX18-related condition OMIM
ClinVar		 PMID:25741868 PMID:25741890 PMID:26235987 PMID:28492532 PMID:30143558 NCBI chr 1:53,836,939...53,867,460
Ensembl chr 1:53,838,189...53,867,254 		JBrowse link
G S Tbx18 T-box transcription factor 18 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 2 | ClinVar Annotator: match by term: Pelvi-ureteric junction obstruction | ClinVar Annotator: match by term: TBX18-related condition OMIM
ClinVar		 PMID:25741868 PMID:25741890 PMID:26235987 PMID:28492532 PMID:30143558 NCBI chrNW_004936510:6,366,450...6,396,056
Ensembl chrNW_004936510:6,366,846...6,393,882 		JBrowse link
G D TBX18 T-box transcription factor 18 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 2 | ClinVar Annotator: match by term: Pelvi-ureteric junction obstruction | ClinVar Annotator: match by term: TBX18-related condition OMIM
ClinVar		 PMID:25741868 PMID:25741890 PMID:26235987 PMID:28492532 PMID:30143558 NCBI chr12:44,901,076...44,929,730
Ensembl chr12:44,873,119...44,929,205 		JBrowse link
G B TBX18 T-box transcription factor 18 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 2 | ClinVar Annotator: match by term: Pelvi-ureteric junction obstruction | ClinVar Annotator: match by term: TBX18-related condition OMIM
ClinVar		 PMID:25741868 PMID:25741890 PMID:26235987 PMID:28492532 PMID:30143558 NCBI chr 6:82,621,987...82,654,137
Ensembl chr 6:85,862,810...85,938,799 		JBrowse link
G C Tbx18 T-box transcription factor 18 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 2 | ClinVar Annotator: match by term: Pelvi-ureteric junction obstruction | ClinVar Annotator: match by term: TBX18-related condition OMIM
ClinVar		 PMID:25741868 PMID:25741890 PMID:26235987 PMID:28492532 PMID:30143558 NCBI chrNW_004955411:12,194,560...12,232,374
Ensembl chrNW_004955411:12,194,550...12,232,374 		JBrowse link
G R Tbx18 T-box transcription factor 18 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 2 | ClinVar Annotator: match by term: Pelvi-ureteric junction obstruction | ClinVar Annotator: match by term: TBX18-related condition		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:25741890 PMID:26235987 PMID:28492532 PMID:30143558 NCBI chr 8:97,531,960...97,559,988
Ensembl chr 8:88,652,054...88,680,058 		JBrowse link
G M Tbx18 T-box18 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 2 | ClinVar Annotator: match by term: Pelvi-ureteric junction obstruction | ClinVar Annotator: match by term: TBX18-related condition		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:25741890 PMID:26235987 PMID:28492532 PMID:30143558 NCBI chr 9:87,584,853...87,613,313
Ensembl chr 9:87,584,853...87,613,313 		JBrowse link
G H TBX18 T-box transcription factor 18 IAGP
EXP		 ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 2 | ClinVar Annotator: match by term: TBX18-related condition
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pelvi-ureteric junction obstruction		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:25741890 PMID:26235987 PMID:28492532 PMID:30143558 NCBI chr 6:84,732,496...84,764,598
Ensembl chr 6:84,687,351...84,764,598 		JBrowse link
G N Timp1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chrNW_004624978:120,723...125,006
Ensembl chrNW_004624978:121,803...124,912 		JBrowse link
G G TIMP1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:27448803 RGD:13204792
G P TIMP1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chr  X:42,103,251...42,106,289
Ensembl chr  X:42,102,172...42,106,296 		JBrowse link
G S Timp1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chrNW_004936502:13,345,936...13,350,170
Ensembl chrNW_004936502:13,345,832...13,350,248 		JBrowse link
G D TIMP1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chr  X:41,201,623...41,205,314
Ensembl chr  X:41,201,638...41,205,310 		JBrowse link
G B TIMP1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chr  X:40,018,190...40,022,636
Ensembl chr  X:47,914,906...47,919,419 		JBrowse link
G C Timp1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chrNW_004955516:507,113...511,360
Ensembl chrNW_004955516:505,789...512,118 		JBrowse link
G R Timp1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chr  X:3,766,509...3,772,578
Ensembl chr  X:1,212,972...1,217,664 		JBrowse link
G M Timp1 tissue inhibitor of metalloproteinase 1 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chr  X:20,736,524...20,740,972
Ensembl chr  X:20,736,405...20,740,974 		JBrowse link
G H TIMP1 TIMP metallopeptidase inhibitor 1 treatment IEP RGD PMID:27448803 RGD:13204792 NCBI chr  X:47,582,436...47,586,789
Ensembl chr  X:47,582,408...47,586,789 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 156678
        genetic disease 151803
          CAKUT2 40
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      Urogenital Diseases 59340
        urinary system disease 37137
          bladder disease 4678
            vesicoureteral reflux 749
              CAKUT 585
                ureteropelvic junction obstruction 40
                  CAKUT2 40
paths to the root