DisGeNET - a database of gene-disease associations

rs528302390, PKD1L1

N. diseases: 9

Disease: Indeterminate atrial arrangement ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Indeterminate atrial arrangement

CUI:	C3164429
Disease:	Indeterminate atrial arrangement

0.700

CausalMutation

CLINVAR

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

2016