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Diseases
Genes (219)
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MYO15A
Deafness, Autosomal Recessive 3
TTPA
Familial Isolated Vitamin E Deficiency
PIK3CD
Activated Pi3k Delta Syndrome
PQBP1
Renpenning's Syndrome
PHKG2
Glycogen Storage Disease Type Ix
Phosphorylase Kinase Deficiency
Glycogen Storage Disease Ixc
SLC20A2
Primary Familial Brain Calcification
FAM20A
Enamel-Renal Syndrome
PDGFRB
Primary Familial Brain Calcification
IFIH1
Singleton Merten Syndrome
ASS1
Citrullinemia Type I
GRIN2A
Rolandic Epilepsy
PDGFB
Primary Familial Brain Calcification
PHKA2
Glycogen Storage Disease Type Ix
Phosphorylase Kinase Deficiency
Glycogen Storage Disease Ixc
RB1
Pinealoblastoma
Trilateral Retinoblastoma
PIK3R1
Activated Pi3k Delta Syndrome
DDX58
Singleton Merten Syndrome
SOST
Craniodiaphyseal Dysplasia
SRPX2
Rolandic Epilepsy
XPR1
Primary Familial Brain Calcification
MYORG
Primary Familial Brain Calcification