DisGeNET - a database of gene-disease associations

Isaacs syndrome, C0242287

Variant: rs397514493 ×

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:

rs397514493

HINT1

0.800

GeneticVariation

UNIPROT

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.

22961002

2012

dbSNP:

rs397514493

HINT1

0.800

GeneticVariation

UNIPROT

The histidine triad protein Hint1 triggers apoptosis independent of its enzymatic activity.

16835243

2006

dbSNP:

rs397514493

HINT1

0.800

CausalMutation

CLINVAR