UBE4A, ubiquitination factor E4A, 9354

N. diseases: 22; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs78799967
rs78799967
Entrez Id: 9354;100131626
Gene Symbol: UBE4A;LOC100131626
UBE4A;LOC100131626
CUI: C0871470
Disease:
Systolic Pressure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1565532385
rs1565532385
Entrez Id: 9354
Gene Symbol: UBE4A
UBE4A
CUI: C1510586
Disease:
Autism Spectrum Disorders 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1565532385
rs1565532385
Entrez Id: 9354
Gene Symbol: UBE4A
UBE4A
CUI: C0014544
Disease:
Epilepsy 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1565532385
rs1565532385
Entrez Id: 9354
Gene Symbol: UBE4A
UBE4A
CUI: C2237142
Disease:
Moderate global developmental delay 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs201668878
rs201668878
Entrez Id: 9354
Gene Symbol: UBE4A
UBE4A
CUI: C4086165
Disease:
Childhood Neuroblastoma 		0.010 GeneticVariation BEFREE One putative missense mutation (1028T > C, leading to I343T, residing in exon 8) was found in neuroblastoma tumour 20R8; this finding was confirmed by sequencing in both directions. 16386891 2006
dbSNP: rs201668878
rs201668878
Entrez Id: 9354
Gene Symbol: UBE4A
UBE4A
CUI: C0700095
Disease:
Central neuroblastoma 		0.010 GeneticVariation BEFREE One putative missense mutation (1028T > C, leading to I343T, residing in exon 8) was found in neuroblastoma tumour 20R8; this finding was confirmed by sequencing in both directions. 16386891 2006
dbSNP: rs201668878
rs201668878
Entrez Id: 9354
Gene Symbol: UBE4A
UBE4A
CUI: C0027819
Disease:
Neuroblastoma 		0.010 GeneticVariation BEFREE One putative missense mutation (1028T > C, leading to I343T, residing in exon 8) was found in neuroblastoma tumour 20R8; this finding was confirmed by sequencing in both directions. 16386891 2006
dbSNP: rs201668878
rs201668878
Entrez Id: 9354
Gene Symbol: UBE4A
UBE4A
CUI: C0027651
Disease:
Neoplasms 		0.010 GeneticVariation BEFREE One putative missense mutation (1028T > C, leading to I343T, residing in exon 8) was found in neuroblastoma tumour 20R8; this finding was confirmed by sequencing in both directions. 16386891 2006