Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		A 0.700 CausalMutation CLINVAR Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters. 28965491

2017
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		A 0.700 CausalMutation CLINVAR A novel approach to assess the ubiquitin-fold modifier 1-system in cells. 27926783

2017
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		A 0.700 CausalMutation CLINVAR Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy. 27545681

2016
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		A 0.700 CausalMutation CLINVAR Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy. 27545674

2016