DisGeNET - a database of gene-disease associations

X-linked infantile spasms, C4552072

Variant: rs114925667 ×

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:

rs114925667

UBA5 ; NPHP3-ACAD11

0.700

CausalMutation

CLINVAR

Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.

28965491

2017

dbSNP:

rs114925667

UBA5 ; NPHP3-ACAD11

0.700

CausalMutation

CLINVAR

A novel approach to assess the ubiquitin-fold modifier 1-system in cells.

27926783

2017

dbSNP:

rs114925667

UBA5 ; NPHP3-ACAD11

0.700

CausalMutation

CLINVAR

Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.

27545674

2016

dbSNP:

rs114925667

UBA5 ; NPHP3-ACAD11

0.700

CausalMutation

CLINVAR

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.

27545681

2016