Disease: X-linked infantile spasms ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.100 CausalMutation disease CLINVAR Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters. 28965491 2017
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.100 CausalMutation disease CLINVAR A novel approach to assess the ubiquitin-fold modifier 1-system in cells. 27926783 2017
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.100 CausalMutation disease CLINVAR Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy. 27545681 2016
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.100 CausalMutation disease CLINVAR Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy. 27545674 2016