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Diseases
Genes (604)
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ABHD5
Cerebral Creatine Deficiency
TTPA
Familial Isolated Vitamin E Deficiency
GAMT
Guanidinoacetate Methyltransferase Deficiency
SLC12A6
Andermann Syndrome
PQBP1
Renpenning's Syndrome
MED12
Fg Syndrome
SLC17A5
Salla Disease
FAM20A
Enamel-Renal Syndrome
NGLY1
Ngly1 Deficiency
UBE3B
Kaufman Oculocerebrofacial Syndrome
DNAAF3
Primary Ciliary Dyskinesia
IFIH1
Singleton Merten Syndrome
DRC1
Primary Ciliary Dyskinesia
ACTG2
Berdon Syndrome
DMPK
Myotonic Dystrophy
FLNA
Intestinal Neuronal Dysplasia
Fg Syndrome
DNAI1
Primary Ciliary Dyskinesia
ASS1
Citrullinemia Type I
CCDC151
Primary Ciliary Dyskinesia
MYH11
Berdon Syndrome