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 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs137852944

0.925

0.240

52083201

missense variant

G/A

snv

4.5E-04

4.7E-04

CUI:	C0158683
Disease:	Polycystic liver disease

Polycystic liver disease

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

0.700

1.000

2017

dbSNP:

rs137852949

0.925

0.240

52058349

stop gained

G/A;C

snv

6.6E-04; 4.0E-06

CUI:	C0158683
Disease:	Polycystic liver disease

Polycystic liver disease

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

0.700

1.000

2017

dbSNP:

rs746972457

0.925

0.240

52026044

frameshift variant

G/-

delins

5.1E-04

2.2E-04

CUI:	C0158683
Disease:	Polycystic liver disease

Polycystic liver disease

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

0.700

1.000

2017

dbSNP:

rs781368899

1.000

0.120

51659907

stop gained

G/A

snv

1.2E-05

1.4E-05

CUI:	C0158683
Disease:	Polycystic liver disease

Polycystic liver disease

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

0.700

1.000

2017