Angelman syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Angelman Syndrome C0162635 CDKL5 Causal Pathogenic evidence from ClinVar 19241098 ClinVar
MECP2 Causal Pathogenic evidence from ClinVar - ClinVar
UBE3A Causal Pathogenic evidence from ClinVar 8988171, 8988172, 9288087, 9585605, 9808466, 9887341, 11748306, 14981718, 15878204, 18500341, 19213023, 20034088, 24385930, 24796722, 25212744, 26255772, 26993267, 27174604, 29188609 ClinVar
ASXL3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GABRB3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15878204 -
KCNQ3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SLC6A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SNHG14 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9887341, 11748306, 14981718, 19213023, 20034088, 24796722, 25212744, 26255772, 26993267, 29188609 -
SYNGAP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Angelman syndrome due to a point mutation 411511 UBE3A Causal Pathogenic evidence from ClinVar - ClinVar
Angelman syndrome due to imprinting defect in 15q11-q13 411515 UBE3A Causal Pathogenic evidence from ClinVar - ClinVar
ATP10A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SNRPN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Angelman syndrome due to maternal 15q11q13 deletion 98794 UBE3A Causal Pathogenic evidence from ClinVar - ClinVar
OCA2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Angelman syndrome due to paternal uniparental disomy of chromosome 15 98795 UBE3A Causal Pathogenic evidence from ClinVar - ClinVar