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Diseases
Genes (944)
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TTPA
Familial Isolated Vitamin E Deficiency
PYGM
Glycogen Storage Disease Type V
FMR1
Fragile X-Associated Tremor/ataxia Syndrome
Renpenning's Syndrome
Fg Syndrome
PQBP1
Renpenning's Syndrome
NGLY1
Ngly1 Deficiency
UMOD
Medullary Cystic Kidney Disease
GNAQ
Sturge–weber Syndrome
MED12
Fg Syndrome
FAM20A
Enamel-Renal Syndrome
UBE3B
Kaufman Oculocerebrofacial Syndrome
RHBDF2
Howel–evans Syndrome
IFIH1
Singleton Merten Syndrome
LIPA
Acid Lipase Disease
FLNA
Intestinal Neuronal Dysplasia
Fg Syndrome
NRAS
Neurocutaneous Melanosis
MAPT
Tauopathy
RASA1
Sturge–weber Syndrome
CD55
Protein Losing Enteropathy
ASS1
Citrullinemia Type I
PTEN
Adenoid Cystic Carcinoma
Thrombophlebitis
Protein Losing Enteropathy