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Diseases
Genes (598)
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TTPA
Familial Isolated Vitamin E Deficiency
ATP7B
Wilson's Disease
SLC12A6
Andermann Syndrome
COL2A1
Collagen, Type Ii, Alpha-1
PQBP1
Renpenning's Syndrome
SLC17A5
Wilson's Disease
Salla Disease
MED12
Fg Syndrome
FAM20A
Enamel-Renal Syndrome
NGLY1
Ngly1 Deficiency
UBE3B
Kaufman Oculocerebrofacial Syndrome
GATA5
Congenital Heart Defects, Multiple Types, 5
IFIH1
Singleton Merten Syndrome
ACTG2
Berdon Syndrome
PAH
Phenylketonuria
Wilson's Disease
FLNA
Intestinal Neuronal Dysplasia
Fg Syndrome
DMPK
Myotonic Dystrophy
ASS1
Citrullinemia Type I
MYH11
Berdon Syndrome
MYLK
Berdon Syndrome
CTNS
Cystinosis