DisGeNET - a database of gene-disease associations

ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, C3150672

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:

rs1555364979

rs1555364979

VIPAS39

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs1555366438

rs1555366438

VIPAS39

C

0.700

GeneticVariation

CLINVAR

dbSNP:

rs200370925

rs200370925

VIPAS39

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs267607171

rs267607171

VIPAS39

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs267607172

rs267607172

VIPAS39

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs267607173

rs267607173

VIPAS39

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs794726653

rs794726653

VIPAS39

C

0.700

CausalMutation

CLINVAR