DisGeNET - a database of gene-disease associations

HETEROTAXY, VISCERAL, 8, AUTOSOMAL, C4310668

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

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	168507
Gene Symbol:	PKD1L1

PKD1L1

0.700

GeneticVariation

disease

UNIPROT

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

2016

Entrez Id:	168507
Gene Symbol:	PKD1L1

PKD1L1

0.700

CausalMutation

disease

CLINVAR

Entrez Id:	168507
Gene Symbol:	PKD1L1

PKD1L1

0.700

Biomarker

disease

CTD_human

Entrez Id:	168507
Gene Symbol:	PKD1L1

PKD1L1

0.700

Biomarker

disease

GENOMICS_ENGLAND