Details of Disease

General Information of Disease (ID: DISBHWUI)

• Disease Name: Autosomal dominant polycystic kidney disease
• Synonyms: congenital biliary ectasias; autosomal dominant polycystic kidney disease; polycystic kidney disease, autosomal dominant; ADPKD
• Disease Class: GB81: Autosomal dominant polycystic kidney disease
• Definition: Autosomal dominant form of polycystic kidney disease.
• Disease Hierarchy:
  DISWS3UY: Polycystic kidney disease
  DIS3HIWD: Autosomal dominant disease
  DISBHWUI: Autosomal dominant polycystic kidney disease
• ICD Code:
  ICD-11: ICD-11: GB81
  ICD-10: ICD-10: Q61.2
  ICD-9: ICD-9: 753.1
  Expand ICD-11: 'GB81
  Expand ICD-10: 'Q61.2
  Expand ICD-9: 753.1
• Disease Identifiers:
  MONDO ID: MONDO_0004691
  MESH ID: D016891
  UMLS CUI: C0085413
  MedGen ID: 88404
  Orphanet ID: 730
  SNOMED CT ID: 765330003

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Tolvaptan	DMIWFRL	Approved	Small molecular drug	[1]

This Disease is Treated as An Indication in 2 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
JNJ-0237	DM9YM37	Phase 1	NA	[2]
RGLS4326	DMQAIU1	Phase 1	Oligonucleotide	[3]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 24 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
AVP	TTJ8EWH	Limited	Biomarker	[4]
CFTR	TTRLZHP	Limited	Biomarker	[5]
FGF23	TT2IZ4K	Limited	Biomarker	[6]
HBA2	TTQO71U	Limited	Genetic Variation	[7]
HDAC6	TT5ZKDI	Limited	Altered Expression	[8]
ITGA6	TT165T3	Limited	Biomarker	[9]
SST	TTWF7UG	Limited	Biomarker	[10]
BRD4	TTSRAOU	Strong	Biomarker	[11]
FSHR	TTZFDBT	Strong	Biomarker	[12]
ITGA8	TT1FW8B	Strong	Genetic Variation	[13]
MYC	TTNQ5ZP	Strong	Biomarker	[11]
NEK8	TT8AH9I	Strong	Autosomal dominant	[14]
OXSR1	TT7ZY03	Strong	Biomarker	[15]
PAK4	TT7Y3BZ	Strong	Biomarker	[16]
PCSK2	TT46F0P	Strong	Biomarker	[17]
PDE1A	TT73TEJ	Strong	Biomarker	[18]
PPARG	TTT2SVW	Strong	Biomarker	[19]
PTGER2	TT1ZAVI	Strong	Biomarker	[20]
SMYD2	TT7YJFO	Strong	Altered Expression	[21]
SSTR5	TT2BC4G	Strong	Genetic Variation	[22]
USP14	TTVSYP9	Strong	Biomarker	[23]
FABP1	TTIV96N	Definitive	Altered Expression	[24]
PDE1B	TT3ZS42	Definitive	Genetic Variation	[25]
PGD	TTZ3IFB	Definitive	Genetic Variation	[26]

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCC6	DT582KR	Strong	Genetic Variation	[27]
SLC9B2	DT4JZLA	Strong	Altered Expression	[28]

This Disease Is Related to 4 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
GANAB	DEMWKYT	Supportive	Autosomal dominant	[29]
ACP5	DESITDW	Strong	Genetic Variation	[6]
GANAB	DEMWKYT	Strong	Biomarker	[30]
HAGH	DE05IKP	Definitive	Biomarker	[25]

This Disease Is Related to 53 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AAAS	OTJT9T23	Limited	Genetic Variation	[31]
CBX4	OT4XVRRF	Limited	Biomarker	[17]
CLDN7	OTNE0XHQ	Limited	Altered Expression	[32]
COQ8B	OTBY50BD	Limited	Genetic Variation	[33]
ERAL1	OTSH78HD	Limited	Biomarker	[34]
HBA1	OTW2BQF4	Limited	Genetic Variation	[7]
PAX2	OTKP1N8F	Limited	Biomarker	[35]
PGP	OT6QQ7OR	Limited	Biomarker	[25]
PTPRF	OTH5KF2D	Limited	Biomarker	[31]
KLF12	OTVH4KD4	Disputed	Biomarker	[36]
GANAB	OTYLXY4M	Supportive	Autosomal dominant	[29]
ALG9	OT5V9PIR	Moderate	Autosomal dominant	[37]
SEC63	OT1ICPMK	moderate	Biomarker	[38]
ADCY6	OTFOY4WW	Strong	Biomarker	[39]
ANKS6	OT6DXD3Q	Strong	Biomarker	[40]
AQP11	OT1IQMHV	Strong	Genetic Variation	[41]
AQP2	OTQLBKK6	Strong	Biomarker	[42]
CALD1	OTNJKJ6Q	Strong	Altered Expression	[43]
CDH8	OTS3SRZ6	Strong	Altered Expression	[44]
CDHR5	OTTBWQMN	Strong	Biomarker	[45]
CFHR1	OT72R16T	Strong	Genetic Variation	[46]
CTRL	OTB6NA5O	Strong	Genetic Variation	[47]
EXOC5	OT9S9NJ7	Strong	Biomarker	[48]
GLIS2	OTOUUV1X	Strong	Biomarker	[49]
KRT6B	OTBXJYHY	Strong	Biomarker	[17]
LAMA5	OTIIXE4M	Strong	Biomarker	[9]
LIN7C	OTB3015O	Strong	Biomarker	[50]
MAPK15	OT8SW0L7	Strong	Genetic Variation	[51]
NCOR2	OTY917X0	Strong	Genetic Variation	[52]
NEK8	OT8AD4JC	Strong	Autosomal dominant	[14]
NPHS2	OTLCNUII	Strong	Altered Expression	[53]
OFD1	OTAZW5TK	Strong	Biomarker	[54]
PIGR	OT6GLSUL	Strong	Biomarker	[55]
PKHD1	OTAH8SMF	Strong	Biomarker	[56]
PRKX	OTDAC6Z0	Strong	Genetic Variation	[57]
SCRIB	OTW4N3FV	Strong	Biomarker	[58]
SEMA7A	OT0ZJK64	Strong	Altered Expression	[59]
SKI	OT4KJ8F6	Strong	Biomarker	[60]
SPAG11A	OTNQ9UB0	Strong	Biomarker	[20]
BICC1	OTYRKIJ1	Definitive	Genetic Variation	[61]
COL14A1	OTLNJ13O	Definitive	Altered Expression	[62]
DNAJB11	OTDDK2SY	Definitive	Autosomal dominant	[14]
EXO1	OTI87RS5	Definitive	Altered Expression	[63]
EXOC4	OT5EWXAN	Definitive	Biomarker	[64]
IFT140	OT6KO5FH	Definitive	Autosomal dominant	[14]
IFT88	OTDR3VBD	Definitive	Genetic Variation	[65]
MYRF	OTKF6AEB	Definitive	Genetic Variation	[66]
NTN3	OTXDJ8PV	Definitive	Biomarker	[67]
PKD1	OT5ALRZ5	Definitive	Autosomal dominant	[14]
PKD2	OTIXBU8H	Definitive	Autosomal dominant	[14]
RGS7	OTDQA90X	Definitive	Biomarker	[68]
RPL3L	OTTNH7PK	Definitive	Biomarker	[69]
STATH	OTQHBHM9	Definitive	Genetic Variation	[70]

References

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