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Standards Ontologies Notations
autosomal dominant polycystic kidney disease

Summary
Synonym
  • ADPKD
  • Congenital biliary ectasias
  • POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1
Definition
A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion.
Super Class
autosomal dominant disease polycystic kidney disease
Disease Ontology
DOID:898
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 11 - 20 of 31 in total
Gene ID Gene Symbol Description Source
3557 IL1RN interleukin 1 receptor antagonist
3934 LCN2 lipocalin 2
4036 LRP2 LDL receptor related protein 2
4041 LRP5 LDL receptor related protein 5
4312 MMP1 matrix metallopeptidase 1
4318 MMP9 matrix metallopeptidase 9
4609 MYC MYC proto-oncogene, bHLH transcription factor
5308 PITX2 paired like homeodomain 2
5310 PKD1 polycystin 1, transient receptor potential channel interacting
5311 PKD2 polycystin 2, transient receptor potential cation channel
Displaying entries 1 - 10 of 27 in total
Gene ID Gene Symbol Description Source
11601 Angpt2 angiopoietin 2
12258 Serping1 serine (or cysteine) peptidase inhibitor, clade G, member 1
12279 C9 complement component 9
12475 Cd14 CD14 antigen
14281 Fos FBJ osteosarcoma oncogene
14725 Lrp2 low density lipoprotein receptor-related protein 2
14962 Cfb complement factor B
16181 Il1rn interleukin 1 receptor antagonist
16798 Lats1 large tumor suppressor
16819 Lcn2 lipocalin 2
Displaying entries 11 - 13 of 13 in total
Gene ID Gene Symbol Description Source
170496 Lcn2 lipocalin 2
295703 Serping1 serpin family G member 1
338443 Gpbar1 G protein-coupled bile acid receptor 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
32661 if inflated
34091 Spn28Dc Serpin 28Dc
Displaying all 3 entries
Gene ID Gene Symbol Description Source
30686 myca MYC proto-oncogene, bHLH transcription factor a
393141 mycb MYC proto-oncogene, bHLH transcription factor b
432387 pkd2 polycystic kidney disease 2
Displaying all 7 entries
Gene ID Gene Symbol Description Source
176240 pat-2 Integrin alpha pat-2
177668 C49C8.5 Fibrinogen C-terminal domain-containing protein
177911 Y43C5A.2 Fibrinogen C-terminal domain-containing protein
178424 pkd-2 Polycystin-2
178748 zmp-3 Matrix metalloproteinase-C
179991 zmp-4 Hemopexin;Peptidase metallopeptidase domain-containing protein
180351 W01F3.2 Uncharacterized protein
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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