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Diseases
Genes (551)
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TTPA
Familial Isolated Vitamin E Deficiency
FOXP3
Ipex Syndrome
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
RHBDF2
Howel–evans Syndrome
FLNA
Fg Syndrome
Subglottic Stenosis
Intestinal Neuronal Dysplasia
IFIH1
Singleton Merten Syndrome
RASA1
Sturge–weber Syndrome
OFD1
Orofaciodigital Syndrome 1
ASS1
Citrullinemia Type I
SCN9A
Dravet Syndrome
CD55
Protein Losing Enteropathy
SLC4A4
Proximal Renal Tubular Acidosis
STXBP1
Dravet Syndrome
CTNS
Cystinosis