DisGeNET - a database of gene-disease associations

UBE3A, ubiquitin protein ligase E3A, 7337

N. diseases: 155; N. variants: 125

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs587781239

Entrez Id:	7337;104472715
Gene Symbol:	UBE3A;SNHG14

UBE3A;SNHG14

CUI:	C0162635
Disease:

Angelman Syndrome

0.800

GeneticVariation

CLINVAR

[Clinical and genetic analysis of two unrelated patients with Angelman syndrome and novel UBE3A mutations].

29188609

2017

dbSNP:

rs587780581

Entrez Id:	7337;104472715
Gene Symbol:	UBE3A;SNHG14

UBE3A;SNHG14

CUI:	C0162635
Disease:

Angelman Syndrome

0.800

GeneticVariation

UNIPROT

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics.

27467454

2016

dbSNP:

rs587780582

Entrez Id:	7337;104472715
Gene Symbol:	UBE3A;SNHG14

UBE3A;SNHG14

CUI:	C0162635
Disease:

Angelman Syndrome

0.800

GeneticVariation

UNIPROT

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics.

27467454

2016

dbSNP:

rs587780583

Entrez Id:	7337;104472715
Gene Symbol:	UBE3A;SNHG14

UBE3A;SNHG14

CUI:	C0162635
Disease:

Angelman Syndrome

0.800

GeneticVariation

UNIPROT

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics.

27467454

2016

dbSNP:

rs587780584

Entrez Id:	7337;104472715
Gene Symbol:	UBE3A;SNHG14

UBE3A;SNHG14

CUI:	C0162635
Disease:

Angelman Syndrome

0.800

GeneticVariation

UNIPROT

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics.

27467454

2016

dbSNP:

rs587781235

Entrez Id:	7337;104472715
Gene Symbol:	UBE3A;SNHG14

UBE3A;SNHG14

CUI:	C0162635
Disease:

Angelman Syndrome

0.800

GeneticVariation

UNIPROT

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics.

27467454

2016

dbSNP:

rs587781236

Entrez Id:	7337;104472715
Gene Symbol:	UBE3A;SNHG14

UBE3A;SNHG14

CUI:	C0162635
Disease:

Angelman Syndrome

0.800

GeneticVariation

UNIPROT

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics.

27467454

2016

dbSNP:

rs587781237

Entrez Id:	7337;104472715
Gene Symbol:	UBE3A;SNHG14

UBE3A;SNHG14

CUI:	C0162635
Disease:

Angelman Syndrome

0.800

GeneticVariation

UNIPROT

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics.

27467454

2016

dbSNP:

rs587781239

Entrez Id:	7337;104472715
Gene Symbol:	UBE3A;SNHG14

UBE3A;SNHG14

CUI:	C0162635
Disease:

Angelman Syndrome

0.800

GeneticVariation

UNIPROT

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics.

27467454

2016

dbSNP:

rs587781241

Entrez Id:	7337;104472715
Gene Symbol:	UBE3A;SNHG14

UBE3A;SNHG14

CUI:	C0162635
Disease:

Angelman Syndrome

0.800

GeneticVariation

UNIPROT

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics.

27467454

2016

dbSNP:

rs587781242

Entrez Id:	7337;104472715
Gene Symbol:	UBE3A;SNHG14

UBE3A;SNHG14

CUI:	C0162635
Disease:

Angelman Syndrome

0.800

GeneticVariation

UNIPROT

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics.

27467454

2016

dbSNP:

rs587781243

Entrez Id:	7337;104472715
Gene Symbol:	UBE3A;SNHG14

UBE3A;SNHG14

CUI:	C0162635
Disease:

Angelman Syndrome

0.800

GeneticVariation

UNIPROT

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics.

27467454

2016

dbSNP:

rs587781244

Entrez Id:	7337;104472715
Gene Symbol:	UBE3A;SNHG14

UBE3A;SNHG14

CUI:	C0162635
Disease:

Angelman Syndrome

0.800

GeneticVariation

UNIPROT

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics.

27467454

2016

dbSNP:

rs587780581

Entrez Id:	7337;104472715
Gene Symbol:	UBE3A;SNHG14

UBE3A;SNHG14

CUI:	C0162635
Disease:

Angelman Syndrome

0.800

GeneticVariation

UNIPROT

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.

25782669

2015

dbSNP:

rs587780582

Entrez Id:	7337;104472715
Gene Symbol:	UBE3A;SNHG14

UBE3A;SNHG14

CUI:	C0162635
Disease:

Angelman Syndrome

0.800

GeneticVariation

UNIPROT

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.

25782669

2015

dbSNP:

rs587780583

Entrez Id:	7337;104472715
Gene Symbol:	UBE3A;SNHG14

UBE3A;SNHG14

CUI:	C0162635
Disease:

Angelman Syndrome

0.800

GeneticVariation

UNIPROT

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.

25782669

2015

dbSNP:

rs587780584

Entrez Id:	7337;104472715
Gene Symbol:	UBE3A;SNHG14

UBE3A;SNHG14

CUI:	C0162635
Disease:

Angelman Syndrome

0.800

GeneticVariation

UNIPROT

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.

25782669

2015

dbSNP:

rs587781235

Entrez Id:	7337;104472715
Gene Symbol:	UBE3A;SNHG14

UBE3A;SNHG14

CUI:	C0162635
Disease:

Angelman Syndrome

0.800

GeneticVariation

UNIPROT

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.

25782669

2015

dbSNP:

rs587781236

Entrez Id:	7337;104472715
Gene Symbol:	UBE3A;SNHG14

UBE3A;SNHG14

CUI:	C0162635
Disease:

Angelman Syndrome

0.800

GeneticVariation

UNIPROT

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.

25782669

2015

dbSNP:

rs587781237

Entrez Id:	7337;104472715
Gene Symbol:	UBE3A;SNHG14

UBE3A;SNHG14

CUI:	C0162635
Disease:

Angelman Syndrome

0.800

GeneticVariation

UNIPROT

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.

25782669

2015

dbSNP:

rs587781239

Entrez Id:	7337;104472715
Gene Symbol:	UBE3A;SNHG14

UBE3A;SNHG14

CUI:	C0162635
Disease:

Angelman Syndrome

0.800

GeneticVariation

UNIPROT

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.

25782669

2015

dbSNP:

rs587781241

Entrez Id:	7337;104472715
Gene Symbol:	UBE3A;SNHG14

UBE3A;SNHG14

CUI:	C0162635
Disease:

Angelman Syndrome

0.800

GeneticVariation

UNIPROT

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.

25782669

2015

dbSNP:

rs587781242

Entrez Id:	7337;104472715
Gene Symbol:	UBE3A;SNHG14

UBE3A;SNHG14

CUI:	C0162635
Disease:

Angelman Syndrome

0.800

GeneticVariation

UNIPROT

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.

25782669

2015

dbSNP:

rs587781243

Entrez Id:	7337;104472715
Gene Symbol:	UBE3A;SNHG14

UBE3A;SNHG14

CUI:	C0162635
Disease:

Angelman Syndrome

0.800

GeneticVariation

UNIPROT

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.

25782669

2015

dbSNP:

rs587781244

Entrez Id:	7337;104472715
Gene Symbol:	UBE3A;SNHG14

UBE3A;SNHG14

CUI:	C0162635
Disease:

Angelman Syndrome

0.800

GeneticVariation

UNIPROT

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.

25782669

2015