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Diseases
Genes (568)
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TTPA
Familial Isolated Vitamin E Deficiency
FOXP3
Ipex Syndrome
COL6A1
Bethlem Myopathy
FMR1
Fg Syndrome
Fragile X-Associated Tremor/ataxia Syndrome
SCN1A
Dravet Syndrome
MED12
Fg Syndrome
MEN1
Glucagonoma
Gastrinoma
GNAQ
Sturge–weber Syndrome
SLC17A5
Salla Disease
PMM2
Pmm2 Deficiency
COL6A3
Bethlem Myopathy
COL6A2
Bethlem Myopathy
RHBDF2
Howel–evans Syndrome
IFIH1
Singleton Merten Syndrome
FLNA
Fg Syndrome
Intestinal Neuronal Dysplasia
RASA1
Sturge–weber Syndrome
COL12A1
Bethlem Myopathy
OFD1
Orofaciodigital Syndrome 1
ASS1
Citrullinemia Type I
SCN9A
Dravet Syndrome