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Diseases
Genes (270)
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TTPA
Familial Isolated Vitamin E Deficiency
BMPR1A
Juvenile Polyposis Syndrome
SMAD4
Juvenile Polyposis Syndrome
ANTXR2
Hyaline Fibromatosis Syndrome
PQBP1
Renpenning's 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
ENG
Juvenile Polyposis Syndrome
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
Primary Familial Brain Calcification