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Standards Ontologies Notations
CAKUT2

Summary
Synonym
  • Congenital anomalies of the kidney and urinary tract 2
Definition
A CAKUT that has_material_basis_in heterozygous mutation in the TBX18 gene on chromosome 6q14.
Super Class
CAKUT
Disease Ontology
DOID:0080207
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
652 BMP4 bone morphogenetic protein 4
4318 MMP9 matrix metallopeptidase 9
7076 TIMP1 TIMP metallopeptidase inhibitor 1
Displaying all 3 entries
Gene ID Gene Symbol Description Source
12159 Bmp4 bone morphogenetic protein 4
17395 Mmp9 matrix metallopeptidase 9
21857 Timp1 tissue inhibitor of metalloproteinase 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
81687 Mmp9 matrix metallopeptidase 9
116510 Timp1 TIMP metallopeptidase inhibitor 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
33432 dpp decapentaplegic
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
399322 bmp4.S bone morphogenetic protein 4 S homeolog Xenopus laevis (African clawed frog)
Displaying all 4 entries
Gene ID Gene Symbol Description Source
179068 dbl-1 Protein dbl-1
179197 cri-2 Putative metalloproteinase inhibitor tag-225
179991 zmp-4 Hemopexin;Peptidase metallopeptidase domain-containing protein
180351 W01F3.2 Uncharacterized protein
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024