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Diseases
Genes (457)
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PQBP1
Microlissencephaly
Renpenning's Syndrome
ASL
Argininosuccinic Aciduria
TTPA
Familial Isolated Vitamin E Deficiency
PMM2
Pmm2 Deficiency
MED12
Fg Syndrome
FAM20A
Enamel-Renal Syndrome
UBE3B
Kaufman Oculocerebrofacial Syndrome
SGPL1
Nephrotic Syndrome, Type 14
IFIH1
Singleton Merten Syndrome
DMPK
Myotonic Dystrophy
CASK
Microlissencephaly
Fg Syndrome
FLNA
Intestinal Neuronal Dysplasia
Fg Syndrome
ASS1
Argininosuccinic Aciduria
Citrullinemia Type I
CTNS
Cystinosis
CNBP
Myotonic Dystrophy
RB1
Pinealoblastoma
Trilateral Retinoblastoma
KATNB1
Microlissencephaly
DDX58
Singleton Merten Syndrome
SOST
Craniodiaphyseal Dysplasia
NKX2-5
Myotonic Dystrophy