DisGeNET - a database of gene-disease associations

PKD1L1, polycystin 1 like 1, transient receptor potential channel interacting, 168507

N. diseases: 18; N. variants: 4

Disease: Double Outlet Right Ventricle ×

Source: ALL

Results per page

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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0013069
Disease:	Double Outlet Right Ventricle

Double Outlet Right Ventricle

0.100

CausalMutation

disease

CLINVAR

Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

27616478

2016

CUI:	C0013069
Disease:	Double Outlet Right Ventricle

Double Outlet Right Ventricle

0.100

Biomarker

disease

HPO