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Diseases
Genes (478)
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ABHD5
Cerebral Creatine Deficiency
GAMT
Guanidinoacetate Methyltransferase Deficiency
TTPA
Familial Isolated Vitamin E Deficiency
SLC6A19
Hartnup Disease
BMPR1A
Juvenile Polyposis Syndrome
SMAD4
Juvenile Polyposis Syndrome
PQBP1
Renpenning's Syndrome
MED12
Fg Syndrome
FAM20A
Enamel-Renal Syndrome
UBE3B
Kaufman Oculocerebrofacial Syndrome
IFIH1
Singleton Merten Syndrome
ACTG2
Berdon Syndrome
ENG
Juvenile Polyposis Syndrome
FLNA
Intestinal Neuronal Dysplasia
Fg Syndrome
ASS1
Citrullinemia Type I
MYH11
Berdon Syndrome
Juvenile Polyposis Syndrome
MYLK
Berdon Syndrome
SRD5A2
Alopecia, Androgenetic, 1
CTNS
Cystinosis
AR
Alopecia, Androgenetic, 1
Multiple System Atrophy