polycystic kidney disease 1

Summary
Synonym
  • Apkd1
  • Pkd1
  • Polycystic Kidney Disease, Adult, Type I
Definition
A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3.
Super Class
autosomal dominant polycystic kidney disease
Related Genes
Displaying entries 11 - 20 of 24 in total
Gene ID Gene Symbol Description Source
5310 PKD1 polycystin 1, transient receptor potential channel interacting
5311 PKD2 polycystin 2, transient receptor potential cation channel
5563 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2
5589 PRKCSH PRKCSH beta subunit of glucosidase II
5743 PTGS2 prostaglandin-endoperoxide synthase 2
6646 SOAT1 sterol O-acyltransferase 1
7369 UMOD uromodulin
8050 PDHX pyruvate dehydrogenase complex component X
8482 SEMA7A semaphorin 7A (JohnMiltonHagen blood group)
9365 KL klotho
Displaying 1 entry
Gene ID Gene Symbol Description Source
17869 Myc myelocytomatosis oncogene
Displaying 1 entry
Gene ID Gene Symbol Description Source
24577 Myc MYC proto-oncogene, bHLH transcription factor
The Human Phenotype Ontology
Displaying entries 1 - 10 of 30 in total
HPO ID HPO Term
HP:0000010 Recurrent urinary tract infections
HP:0000083 Renal insufficiency
HP:0000105 Enlarged kidney
HP:0000107 Renal cyst
HP:0000790 Hematuria
HP:0000791 Uric acid nephrolithiasis
HP:0000822 Hypertension
HP:0001407 Hepatic cysts
HP:0001634 Mitral valve prolapse
HP:0001737 Pancreatic cysts
Displaying all 5 entries
Gene ID Gene Symbol Description
23193 GANAB glucosidase II alpha subunit
29880 ALG5 ALG5 dolichyl-phosphate beta-glucosyltransferase
5310 PKD1 polycystin 1, transient receptor potential channel interacting
5311 PKD2 polycystin 2, transient receptor potential cation channel
79796 ALG9 ALG9 alpha-1,2-mannosyltransferase

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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: August 19, 2024