DisGeNET - a database of gene-disease associations

Ichthyosis linearis circumflexa, C0265962

Variant: rs777436361 ×

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:

rs777436361

rs777436361

SPINK5

0.010

GeneticVariation

BEFREE

Lethal Netherton syndrome due to homozygous p.Arg371X mutation in SPINK5.

2014