Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs114925667
rs114925667
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C4310700
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		A 0.800 CausalMutation CLINVAR Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy. 27545681 2016
dbSNP: rs114925667
rs114925667
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C4310700
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		A 0.800 CausalMutation CLINVAR Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy. 27545674 2016
dbSNP: rs532178791
rs532178791
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C4310700
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		0.800 GeneticVariation UNIPROT Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy. 27545681 2016
dbSNP: rs532178791
rs532178791
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C4310700
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		0.800 GeneticVariation UNIPROT Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy. 27545674 2016
dbSNP: rs886039759
rs886039759
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C4310700
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		0.800 GeneticVariation UNIPROT Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy. 27545681 2016
dbSNP: rs886039759
rs886039759
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C4310700
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		0.800 GeneticVariation UNIPROT Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy. 27545674 2016
dbSNP: rs886039760
rs886039760
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C4310700
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		0.800 GeneticVariation UNIPROT Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy. 27545681 2016
dbSNP: rs886039760
rs886039760
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C4310700
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		0.800 GeneticVariation UNIPROT Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy. 27545674 2016
dbSNP: rs886039761
rs886039761
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C4310700
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		0.800 GeneticVariation UNIPROT Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy. 27545681 2016
dbSNP: rs886039761
rs886039761
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C4310700
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		0.800 GeneticVariation UNIPROT Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy. 27545674 2016
dbSNP: rs114925667
rs114925667
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C4310700
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		0.800 GeneticVariation UNIPROT
dbSNP: rs532178791
rs532178791
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C4310700
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		G 0.800 CausalMutation CLINVAR
dbSNP: rs774318611
rs774318611
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C4310700
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		A 0.800 CausalMutation CLINVAR
dbSNP: rs774318611
rs774318611
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C4310700
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		0.800 GeneticVariation UNIPROT
dbSNP: rs886039759
rs886039759
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C4310700
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		A 0.800 CausalMutation CLINVAR
dbSNP: rs886039760
rs886039760
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C4310700
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		T 0.800 CausalMutation CLINVAR
dbSNP: rs886039761
rs886039761
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C4310700
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		A 0.800 CausalMutation CLINVAR
dbSNP: rs34116314
rs34116314
Entrez Id: 79876;84129;100532724
Gene Symbol: UBA5;ACAD11;NPHP3-ACAD11
UBA5;ACAD11;NPHP3-ACAD11
CUI: C2985280
Disease:
Blood Protein Measurement 		AT 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs114925667
rs114925667
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C4552072
Disease:
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
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C4552072
Disease:
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: rs16839481
rs16839481
Entrez Id: 79876;84129;100532724
Gene Symbol: UBA5;ACAD11;NPHP3-ACAD11
UBA5;ACAD11;NPHP3-ACAD11
CUI: C1283048
Disease:
Iron binding capacity total measurement 		G 0.700 GeneticVariation GWASCAT Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? 28334935 2017
dbSNP: rs16839481
rs16839481
Entrez Id: 79876;84129;100532724
Gene Symbol: UBA5;ACAD11;NPHP3-ACAD11
UBA5;ACAD11;NPHP3-ACAD11
CUI: C0700379
Disease:
Total iron binding capacity function 		G 0.700 GeneticVariation GWASCAT Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? 28334935 2017
dbSNP: rs114925667
rs114925667
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C4552072
Disease:
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
dbSNP: rs114925667
rs114925667
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C4552072
Disease:
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: rs886039762
rs886039762
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C4310699
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24 		0.700 GeneticVariation UNIPROT UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia. 26872069 2016