DisGeNET - a database of gene-disease associations

ARV1, ARV1 homolog, fatty acid homeostasis modulator, 64801

N. diseases: 57; N. variants: 2

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs730882241

rs730882241

Entrez Id:	64801
Gene Symbol:	ARV1

ARV1

CUI:	C4310762
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38

A

0.800

CausalMutation

CLINVAR

dbSNP:

rs730882241

rs730882241

Entrez Id:	64801
Gene Symbol:	ARV1

ARV1

CUI:	C4310762
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38

0.800

GeneticVariation

UNIPROT

dbSNP:

rs150619347

rs150619347

Entrez Id:	64801
Gene Symbol:	ARV1

ARV1

CUI:	C4310762
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs730882241

rs730882241

Entrez Id:	64801
Gene Symbol:	ARV1

ARV1

CUI:	C0456909
Disease:

Blindness

A

0.700

GeneticVariation

CLINVAR

dbSNP:

rs730882241

rs730882241

Entrez Id:	64801
Gene Symbol:	ARV1

ARV1

CUI:	C0027746
Disease:

Nerve Degeneration

A

0.700

GeneticVariation

CLINVAR