DisGeNET - a database of gene-disease associations

PKHD1, PKHD1 ciliary IPT domain containing fibrocystin/polyductin, 5314

N. diseases: 115; N. variants: 324

Disease: Polycystic liver disease ×

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Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Type

Disease Class

Semantic Type

N. genes_d

N. SNPs_d

Score _gda

EL _gda

EI _gda

N. PMIDs

N. SNPs _gda

First Ref.

Last Ref.

CUI:	C0158683
Disease:	Polycystic liver disease

Polycystic liver disease

disease

Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms

Disease or Syndrome

38

17

0.130

None

1.000

3

4

2017

2019