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Diseases
Genes (817)
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EFHC1
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
PAX2
Papillorenal Syndrome
BUB1B
Mosaic Variegated Aneuploidy Syndrome 3
SLC2A2
Fanconi–bickel Syndrome
GABRA1
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
IFIH1
Singleton Merten Syndrome
CEP57
Mosaic Variegated Aneuploidy Syndrome 3
CACNB4
Cerebellar Ataxia
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
SYNE1
Cerebellar Ataxia
JRK
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
CCND2
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
PIK3R2
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
AKT3
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
TRIP13
Mosaic Variegated Aneuploidy Syndrome 3
CACNA1A
Cerebellar Ataxia
RB1
Pinealoblastoma
Trilateral Retinoblastoma
LMNA
Sinoatrial Block
SCN8A
Cerebellar Ataxia
SNX14
Cerebellar Ataxia
RFC1
Cerebellar Ataxia