Angelman syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
ANGELMAN SYNDROME
C0162635MESH:D017204105830MONDO:0007113
GABRB3 Unknown
15878204
CTD, Disgenet
SNRPN Unknown — CTD, ClinVar, Disgenet, HPO
SNURF Unknown — Disgenet
ANGELMAN SYNDROME DUE TO A POINT MUTATION
411511C5681146
UBE3A Unknown
20301323 22670133 24876791 25212744
Disgenet, Orphanet
ANGELMAN SYNDROME DUE TO IMPRINTING DEFECT IN 15Q11-Q13
411515C5681834
ATP10A Unknown
11326269 17347796
Disgenet, Orphanet
SNRPN Unknown
17347796 20301323 22670133 24876791 25212744
Disgenet, Orphanet
UBE3A Unknown
17347796 20301323 22670133 24876791 25212744
Disgenet, Orphanet
ANGELMAN SYNDROME DUE TO MATERNAL 15Q11Q13 DELETION
98794
OCA2 Unknown
10905897 20301323
Orphanet
UBE3A Unknown
20301323 22670133 24876791 25212744
Orphanet
ANGELMAN SYNDROME DUE TO MATERNAL MONOSOMY 15Q11Q13
C5566334
OCA2 Unknown — Disgenet
UBE3A Unknown — Disgenet
ANGELMAN SYNDROME DUE TO PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 15
98795
UBE3A Unknown
20301323 22670133 24876791 25212744
Orphanet, ClinGen
All10 Causal5 Unknown6
Related Diseases Diseases that share the most curated genes with Angelman syndrome.
5 View disease cluster →
Bruxism 2 shared genesCDKL5, MECP2 Related via 2 shared genes including CDKL5, MECP2. Cyclin-dependent kinase-like 5 deficiency 2 shared genesCDKL5, MECP2 Related via 2 shared genes including CDKL5, MECP2. Prader-willi syndrome 2 shared genesOCA2, SNRPN Related via 2 shared genes including OCA2, SNRPN. 15q11q13 microduplication syndrome 1 shared geneUBE3A Related via 1 shared gene including UBE3A. Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia 1 shared geneTPP1 Related via 1 shared gene including TPP1.