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Diseases
Genes (681)
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TTPA
Familial Isolated Vitamin E Deficiency
Nyctalopia
APRT
Adenine Phosphoribosyltransferase Deficiency
Cystinosis
GM2A
Gm2-Gangliosidosis, Ab Variant
PCCA
Propionic Acidemia
PCCB
Propionic Acidemia
PQBP1
Renpenning's Syndrome
MED12
Fg Syndrome
FAM20A
Enamel-Renal Syndrome
SLC20A2
Cyclopia
Primary Familial Brain Calcification
HOGA1
Primary Hyperoxaluria Type 3
PDGFRB
Primary Familial Brain Calcification
UBE3B
Kaufman Oculocerebrofacial Syndrome
MMAA
Methylmalonic Aciduria, Cbla Type
PRPS1
Phosphoribosylpyrophosphate Synthetase Superactivity
IFIH1
Singleton Merten Syndrome
ACTG2
Berdon Syndrome
FLNA
Aneurysm Of Sinus Of Valsalva
Intestinal Neuronal Dysplasia
Fg Syndrome
ASS1
Citrullinemia Type I
PDGFB
Primary Familial Brain Calcification
MYH11
Berdon Syndrome