DisGeNET - a database of gene-disease associations

Decreased liver function, C0232744

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

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs867410737

rs867410737

ATP5F1D

T

0.700

CausalMutation

CLINVAR

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.

2018

dbSNP:

rs1554785242

rs1554785242

ADAMTS13

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs1554791280

rs1554791280

ADAMTS13

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1555206402

rs1555206402

HMBS

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs768849283

rs768849283

PRF1

G

0.700

GeneticVariation

CLINVAR