Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
CUI: C4310700
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
0.800 CausalMutation CLINVAR Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy. 27545681 2016
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
CUI: C4310700
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
0.800 CausalMutation CLINVAR Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy. 27545674 2016
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
CUI: C4310700
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
0.800 GeneticVariation UNIPROT
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
0.700 CausalMutation CLINVAR Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters. 28965491 2017
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
0.700 CausalMutation CLINVAR A novel approach to assess the ubiquitin-fold modifier 1-system in cells. 27926783 2017
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
0.700 CausalMutation CLINVAR Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy. 27545674 2016
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
0.700 CausalMutation CLINVAR Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy. 27545681 2016
Plagiocephaly
CUI: C0265529
Disease: Plagiocephaly
0.700 CausalMutation CLINVAR
Underdeveloped nasolabial fold
CUI: C4021227
Disease: Underdeveloped nasolabial fold
0.700 CausalMutation CLINVAR
Amblyopia
CUI: C0002418
Disease: Amblyopia
0.700 CausalMutation CLINVAR
Hypoplasia of corpus callosum
CUI: C0344482
Disease: Hypoplasia of corpus callosum
0.700 CausalMutation CLINVAR
Infantile encephalopathy
CUI: C1856408
Disease: Infantile encephalopathy
0.700 CausalMutation CLINVAR
Tapering fingers (finding)
CUI: C0426886
Disease: Tapering fingers (finding)
0.700 CausalMutation CLINVAR
Abnormality of the cerebral ventricles
CUI: C4025724
Disease: Abnormality of the cerebral ventricles
0.700 CausalMutation CLINVAR
Parkinsonism with favorable response to dopaminergic medication
CUI: C1846868
Disease: Parkinsonism with favorable response to dopaminergic medication
0.700 CausalMutation CLINVAR
Limb hypertonia
CUI: C1838391
Disease: Limb hypertonia
0.700 CausalMutation CLINVAR
Cutis marmorata
CUI: C0263401
Disease: Cutis marmorata
0.700 CausalMutation CLINVAR
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
0.700 CausalMutation CLINVAR
Chorea
CUI: C0008489
Disease: Chorea
0.700 CausalMutation CLINVAR
Leg Length Inequality
CUI: C0023221
Disease: Leg Length Inequality
0.700 CausalMutation CLINVAR
Abnormal delivery
CUI: C0549629
Disease: Abnormal delivery
0.700 CausalMutation CLINVAR
Late tooth eruption
CUI: C0239174
Disease: Late tooth eruption
0.700 CausalMutation CLINVAR
Irritation - emotion
CUI: C2700617
Disease: Irritation - emotion
0.700 CausalMutation CLINVAR
Electroencephalogram abnormal
CUI: C0151611
Disease: Electroencephalogram abnormal
0.700 CausalMutation CLINVAR
Esotropia
CUI: C0014877
Disease: Esotropia
0.700 CausalMutation CLINVAR