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Diseases
Genes (639)
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TTPA
Familial Isolated Vitamin E Deficiency
Nyctalopia
GM2A
Gm2-Gangliosidosis, Ab Variant
APRT
Adenine Phosphoribosyltransferase Deficiency
Cystinosis
PCCA
Propionic Acidemia
PCCB
Propionic Acidemia
PQBP1
Renpenning's Syndrome
MED12
Fg Syndrome
FAM20A
Enamel-Renal Syndrome
HOGA1
Primary Hyperoxaluria Type 3
SLC20A2
Primary Familial Brain Calcification
PDGFRB
Primary Familial Brain Calcification
UBE3B
Kaufman Oculocerebrofacial Syndrome
MMAA
Methylmalonic Aciduria, Cbla Type
PRPS1
Phosphoribosylpyrophosphate Synthetase Superactivity
IFIH1
Singleton Merten Syndrome
FLNA
Aneurysm Of Sinus Of Valsalva
Intestinal Neuronal Dysplasia
Fg Syndrome
ASS1
Citrullinemia Type I
PDGFB
Primary Familial Brain Calcification
CTNS
Cystinosis
RB1
Pinealoblastoma
Trilateral Retinoblastoma