Details of Disease

General Information of Disease (ID: DIS4UQIF)

Disease Name Polycystic kidney disease 2
Synonyms
polycystic kidney disease 2 with or without polycystic liver disease; polycystic kidney disease, adult, type 2; PKD2 autosomal dominant polycystic kidney disease; polycystic kidney disease type 2; autosomal dominant polycystic kidney disease caused by mutation in PKD2; PKD2; APKD2; polycystic kidney disease 2; Autosomal dominant polycystic kidney disease type 2; polycystic kidney disease, adult, type II
Definition Autosomal dominant polycystic kidney disease caused by a mutation in PKD2.
Disease Hierarchy
DISBHWUI: Autosomal dominant polycystic kidney disease
DIS4UQIF: Polycystic kidney disease 2
Disease Identifiers
MONDO ID
MONDO_0013131
MESH ID
D016891
UMLS CUI
C2751306
OMIM ID
613095
MedGen ID
442699
SNOMED CT ID
253879006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PKD2L1 TTAHD89 Limited Genetic Variation [1]
SLC2A9 TTIF3GB Disputed Biomarker [2]
BRD4 TTSRAOU Strong Biomarker [3]
MYC TTNQ5ZP Strong Biomarker [3]
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This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC16A9 DTQK5O9 Disputed Biomarker [2]
SLC17A1 DT8ARWJ Disputed Genetic Variation [2]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ANKS6 OT6DXD3Q Strong Biomarker [4]
PKD1 OT5ALRZ5 Strong Genetic Variation [5]
PKD2 OTIXBU8H Strong Autosomal dominant [6]
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References

1 The human polycystic kidney disease 2-like (PKDL) gene: exon/intron structure and evidence for a novel splicing mechanism.Mamm Genome. 2000 Jan;11(1):46-50. doi: 10.1007/s003350010009.
2 Pathway analysis of genome-wide association studies on uric acid concentrations.Hum Immunol. 2012 Aug;73(8):805-10. doi: 10.1016/j.humimm.2012.05.004. Epub 2012 May 17.
3 Therapeutic targeting of BET bromodomain protein, Brd4, delays cyst growth in ADPKD.Hum Mol Genet. 2015 Jul 15;24(14):3982-93. doi: 10.1093/hmg/ddv136. Epub 2015 Apr 15.
4 Altered expression pattern of polycystin-2 in acute and chronic renal tubular diseases.J Am Soc Nephrol. 2002 Jul;13(7):1855-64. doi: 10.1097/01.asn.0000018402.33620.c7.
5 Regulation of KLF12 by microRNA-20b and microRNA-106a in cystogenesis.FASEB J. 2018 Jul;32(7):3574-3582. doi: 10.1096/fj.201700923R. Epub 2018 Feb 16.
6 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.