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Diseases
Genes (243)
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MYO15A
Deafness, Autosomal Recessive 3
ANTXR2
Hyaline Fibromatosis Syndrome
SLC2A1
Rolandic Epilepsy
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
PIK3CD
Activated Pi3k Delta Syndrome
PHKG2
Glycogen Storage Disease Type Ix
Phosphorylase Kinase Deficiency
Glycogen Storage Disease Ixc
SLC20A2
Primary Familial Brain Calcification
PDGFRB
Primary Familial Brain Calcification
IFIH1
Singleton Merten Syndrome
HPS4
Hermansky-Pudlak Syndrome 3
HPS3
Hermansky-Pudlak Syndrome 3
BLOC1S3
Hermansky-Pudlak Syndrome 3
DTNBP1
Hermansky-Pudlak Syndrome 3
BLOC1S6
Hermansky-Pudlak Syndrome 3
HPS6
Hermansky-Pudlak Syndrome 3
HPS5
Hermansky-Pudlak Syndrome 3
GRIN2A
Rolandic Epilepsy
MAPKAPK3
Macular Dystrophy, Patterned, 3
AP3D1
Hermansky-Pudlak Syndrome 3
PDGFB
Primary Familial Brain Calcification
AP3B1
Hermansky-Pudlak Syndrome 3