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Diseases
Genes (517)
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ABHD5
Cerebral Creatine Deficiency
GAMT
Guanidinoacetate Methyltransferase Deficiency
TTPA
Familial Isolated Vitamin E Deficiency
FMR1
Fragile X-Associated Tremor/ataxia Syndrome
Renpenning's Syndrome
Fg Syndrome
PQBP1
Renpenning's Syndrome
MED12
Fg Syndrome
FAM20A
Enamel-Renal Syndrome
SLC17A5
Salla Disease
NGLY1
Ngly1 Deficiency
UBE3B
Kaufman Oculocerebrofacial Syndrome
IFIH1
Singleton Merten Syndrome
ACTG2
Berdon Syndrome
MMP21
Situs Ambiguus
ACVR2B
Situs Ambiguus
ZIC3
Situs Ambiguus
FLNA
Intestinal Neuronal Dysplasia
Fg Syndrome
ASS1
Citrullinemia Type I
NODAL
Situs Ambiguus
CFAP53
Situs Ambiguus
MYH11
Berdon Syndrome