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 21 - 30 of 30 in total
HPO ID HPO Term
HP:0012330 Pyelonephritis
HP:0012591 Abnormal urinary electrolyte concentration
HP:0012592 Albuminuria
HP:0012622 Chronic kidney disease
HP:0100702 Arachnoid cyst
HP:0002253 Colonic diverticula
HP:0000006 Autosomal dominant inheritance
HP:0001653 Mitral regurgitation
HP:0000113 Polycystic kidney dysplasia
HP:0007029 Cerebral berry aneurysm
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

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Last updated: August 19, 2024