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Diseases
Genes (277)
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EFHC1
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
MYO15A
Deafness, Autosomal Recessive 3
PAX2
Papillorenal Syndrome
BUB1B
Mosaic Variegated Aneuploidy Syndrome 3
TTPA
Familial Isolated Vitamin E Deficiency
PIK3CD
Activated Pi3k Delta Syndrome
SLC2A2
Fanconi–bickel Syndrome
PQBP1
Renpenning's Syndrome
PHKG2
Glycogen Storage Disease Type Ix
Phosphorylase Kinase Deficiency
Glycogen Storage Disease Ixc
GABRA1
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
EYA1
Papillorenal Syndrome
Branchiootorenal/branchiootic Syndrome
IFIH1
Singleton Merten Syndrome
CEP57
Mosaic Variegated Aneuploidy Syndrome 3
TRAPPC11
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
CACNB4
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
JRK
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
GRIN2A
Rolandic Epilepsy
CCND2
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
PIK3R2
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
AKT3
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3