DisGeNET - a database of gene-disease associations

POROKERATOSIS 7, MULTIPLE TYPES, C3553549

Variant: rs755948940 ×

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:

rs755948940

MVD

0.800

GeneticVariation

UNIPROT

Genomic variations of the mevalonate pathway in porokeratosis.

26202976

2015

dbSNP:

rs755948940

MVD

0.800

GeneticVariation

UNIPROT

Human mevalonate diphosphate decarboxylase: characterization, investigation of the mevalonate diphosphate binding site, and crystal structure.

18823933

2008

dbSNP:

rs755948940

MVD

0.800

CausalMutation

CLINVAR