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 21 - 24 of 24 in total
Gene ID Gene Symbol Description Source
23193 GANAB glucosidase II alpha subunit
23583 SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
79796 ALG9 ALG9 alpha-1,2-mannosyltransferase
283871 PGP phosphoglycolate phosphatase
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 11 - 20 of 30 in total
HPO ID HPO Term
HP:0002616 Aortic root aneurysm
HP:0003259 Elevated circulating creatinine concentration
HP:0003774 Stage 5 chronic kidney disease
HP:0004944 Dilatation of the cerebral artery
HP:0006557 Polycystic liver disease
HP:0008672 Calcium oxalate nephrolithiasis
HP:0011004 Abnormal systemic arterial morphology
HP:0011760 Pituitary growth hormone cell adenoma
HP:0012207 Reduced sperm motility
HP:0012213 Decreased glomerular filtration rate
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