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Diseases
Genes (183)
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TTPA
Familial Isolated Vitamin E Deficiency
PQBP1
Renpenning's Syndrome
SLC20A2
Primary Familial Brain Calcification
FAM20A
Enamel-Renal Syndrome
PDGFRB
Primary Familial Brain Calcification
IFIH1
Singleton Merten Syndrome
LIPA
Acid Lipase Disease
ASS1
Citrullinemia Type I
PDGFB
Primary Familial Brain Calcification
RB1
Pinealoblastoma
Trilateral Retinoblastoma
DDX58
Singleton Merten Syndrome
SOST
Craniodiaphyseal Dysplasia
XPR1
Primary Familial Brain Calcification
MYORG
Primary Familial Brain Calcification
NANS
Developmental Disability
Maladjustment
MECP2
Developmental Disability
Maladjustment
FH
Fumarase Deficiency
FLNA
Aneurysm Of Sinus Of Valsalva
Intestinal Neuronal Dysplasia
KIF1A
Developmental Disability
SLC4A4
Developmental Disability