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Diseases
Genes (731)
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TTPA
Familial Isolated Vitamin E Deficiency
Nyctalopia
GM2A
Gm2-Gangliosidosis, Ab Variant
APRT
Adenine Phosphoribosyltransferase Deficiency
Cystinosis
COL2A1
Collagen, Type Ii, Alpha-1
PCCA
Propionic Acidemia
PCCB
Propionic Acidemia
PQBP1
Renpenning's Syndrome
MED12
Fg Syndrome
SLC20A2
Primary Familial Brain Calcification
FAM20A
Enamel-Renal Syndrome
HOGA1
Primary Hyperoxaluria Type 3
PDGFRB
Primary Familial Brain Calcification
MMAA
Methylmalonic Aciduria, Cbla Type
UBE3B
Kaufman Oculocerebrofacial Syndrome
RET
Potter Sequence
PRPS1
Phosphoribosylpyrophosphate Synthetase Superactivity
IFIH1
Singleton Merten Syndrome
FLNA
Aneurysm Of Sinus Of Valsalva
Intestinal Neuronal Dysplasia
Fg Syndrome
PAH
Phenylketonuria
ITGA8
Potter Sequence