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Diseases
Genes (387)
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ABHD5
Cerebral Creatine Deficiency
SLC6A19
Hartnup Disease
TTPA
Familial Isolated Vitamin E Deficiency
GAMT
Guanidinoacetate Methyltransferase Deficiency
RYR1
Malignant Hyperthermia
PQBP1
Renpenning's Syndrome
MED12
Fg Syndrome
FAM20A
Enamel-Renal Syndrome
GALE
Galactose Epimerase Deficiency
IFIH1
Singleton Merten Syndrome
FLNA
Intestinal Neuronal Dysplasia
Malignant Hyperthermia
Fg Syndrome
ASS1
Citrullinemia Type I
CACNA1S
Malignant Hyperthermia
CTNS
Cystinosis
SRD5A2
Alopecia, Androgenetic, 1
AR
Alopecia, Androgenetic, 1
PRKAR1A
Alopecia, Androgenetic, 1
Enamel-Renal Syndrome
RB1
Pinealoblastoma
Trilateral Retinoblastoma
ZFP36
Alopecia, Androgenetic, 1
Familial Isolated Vitamin E Deficiency
Vascular Tumor
BCHE
Organophosphate Poisoning
Malignant Hyperthermia