DisGeNET - a database of gene-disease associations

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55, C4539843

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:

rs768633670

rs768633670

TTC3 ; PIGP

0.800

GeneticVariation

UNIPROT

Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.

2017

dbSNP:

rs768633670

rs768633670

TTC3 ; PIGP

G

0.800

CausalMutation

CLINVAR

dbSNP:

rs768633670

rs768633670

TTC3 ; PIGP

G

0.800

GeneticVariation

CLINVAR

dbSNP:

rs778481061

rs778481061

PIGP ; LOC105372795

C

0.700

CausalMutation

CLINVAR