Disease: Encephalopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.130 GeneticVariation group BEFREE The recent finding that biallelic mutations in UBA5 (the E1-like enzyme for ufmylation) cause severe early-onset encephalopathy with progressive microcephaly implicates ufmylation in human brain development. 29868776 2018
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.130 GeneticVariation group BEFREE These clinical, biochemical, and experimental findings support our finding of UBA5 mutations as a pathophysiological cause for early-onset encephalopathies due to abnormal protein ufmylation. 27545681 2016
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.130 GeneticVariation group BEFREE Taken together, our data imply that the combination of a hypomorphic p.Ala371Thr variant in trans with a loss-of-function allele in UBA5 underlies a severe infantile-onset encephalopathy. 27545674 2016
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.130 Biomarker group HPO