Familial adult myoclonic epilepsy

Disease Term Disease ID Gene Symbol Classification References Source
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1
601068C1832841MONDO:0010985
SAMD12 Unknown
29507423 29939203 30194086 32174879 32973343 33040085 33791773
ClinVar Disgenet GWAS catalog HPO
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2
MONDO:0011930607876
ADRA2B Unknown
24114805 31664034
GWAS catalog
STARD7 Unknown
11701600 24114805 31664034
ClinVar GWAS catalog HPO
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3
613608C3150860MESH:C567098MONDO:0013322
MARCHF6 Unknown — CTD ClinVar Disgenet HPO
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 4
615127C3554560MONDO:0014055
YEATS2 Unknown — ClinVar Disgenet HPO
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5
MONDO:0014167
CNTN2 Causal
11178983 1287821998 12975355 23518707 28397838
ClinVar GWAS catalog
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6
618074C4748079MONDO:0054846
TNRC6A Unknown
29507423 30351492
ClinVar Disgenet GWAS catalog HPO
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7
618075C4748080MONDO:0054847
RAPGEF2 Unknown
29507423 30351492
ClinVar Disgenet GWAS catalog HPO