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Diseases
Genes (522)
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ANTXR2
Hyaline Fibromatosis Syndrome
SLC20A2
Primary Familial Brain Calcification
PDGFRB
Primary Familial Brain Calcification
SLC2A1
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
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
MAPKAPK3
Macular Dystrophy, Patterned, 3
AP3D1
Hermansky-Pudlak Syndrome 3
PDGFB
Callosity
Primary Familial Brain Calcification
AP3B1
Hermansky-Pudlak Syndrome 3
HPS1
Hermansky-Pudlak Syndrome 3
RB1
Pinealoblastoma
Trilateral Retinoblastoma
FUT2
Norovirus Infection
DDX58
Singleton Merten Syndrome