DisGeNET - a database of gene-disease associations

Fatal Familial Insomnia, C0206042

Variant: rs868861597 ×

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:

rs868861597

CARD14

0.030

GeneticVariation

BEFREE

The D178N mutation, known to be linked to 2 different phenotypes: Fatal Familial Insomnia (FFI) and CJD, was not described so far among Jews.

9531435

1998

dbSNP:

rs868861597

CARD14

0.030

GeneticVariation

BEFREE

FFI is associated with an aspartic acid to asparagine mutation at codon 178 of the PrP gene (D178N) in conjunction with methionine at the codon 129 polymorphic site on the mutant allele (cis-129M).

9270595

1997

dbSNP:

rs868861597

CARD14

0.030

GeneticVariation

BEFREE

FFI and a familial type of Creutzfeldt-Jakob disease (CJD178), share the D178N mutation in the PrP gene but have distinct phenotypes linked to codon 129, the site of a methionine/valine polymorphism (129M/V).

8647879

1996