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Diseases
Genes (1189)
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TTPA
Familial Isolated Vitamin E Deficiency
PYGM
Gastrinoma
Glycogen Storage Disease Type V
SCN1A
Hippocampal Sclerosis
Dravet Syndrome
MMUT
Methylmalonyl-Coa Mutase Deficiency
GNAQ
Sturge–weber Syndrome
Mongolian Spot
SLC2A1
Adenoid Cystic Carcinoma
Glut1 Deficiency
Dravet Syndrome
MED12
Fg Syndrome
PMM2
Cutis Laxa
Pmm2 Deficiency
SLC17A5
Salla Disease
CYP17A1
Congenital Adrenal Hyperplasia
SHH
Holoprosencephaly
SIX3
Holoprosencephaly
TGIF1
Holoprosencephaly
GLI2
Holoprosencephaly
FBLN5
Cutis Laxa
ELN
Cutis Laxa
IFIH1
Singleton Merten Syndrome
PYCR1
Cutis Laxa
EFEMP2
Cutis Laxa
NODAL
Holoprosencephaly