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Diseases
Genes (451)
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ASL
Argininosuccinic Aciduria
PMM2
Pmm2 Deficiency
TTPA
Familial Isolated Vitamin E Deficiency
FMR1
Fragile X-Associated Tremor/ataxia Syndrome
Renpenning's Syndrome
Fg Syndrome
F12
Factor Xii Deficiency
SLC12A6
Andermann 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
FLNA
Intestinal Neuronal Dysplasia
Fg Syndrome
TRNL1
Merrf Syndrome
TRNP
Merrf Syndrome
TRNF
Merrf Syndrome
ASS1
Argininosuccinic Aciduria
Citrullinemia Type I
MYH11
Berdon Syndrome