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Diseases
Genes (834)
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CYP4V2
Bietti's Crystalline Dystrophy
OPN1LW
Blue Cone Monochromatism
HOXA13
Hand-Foot-Genital Syndrome
PAX3
Waardenburg Syndrome Type I
CLN3
Batten Disease
CP
Aceruloplasminemia
PMM2
Pmm2 Deficiency
SIX1
Branchiootorenal Syndrome 2
EYA1
Branchiootorenal Syndrome 2
DCTN1
Perry Syndrome
OPN1MW
Blue Cone Monochromatism
HARS1
Charcot-Marie-Tooth Disease, Axonal, Type 2w
Charcot-Marie-Tooth Disease
WDR11
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
PTEN
Uveitis
Proteus Syndrome
ASPM
Microcephaly 14, Primary, Autosomal Recessive
AKT1
Proteus Syndrome
CDK5RAP2
Microcephaly 14, Primary, Autosomal Recessive
SEC61A1
Hyperuricemic Nephropathy, Familial Juvenile, 4
PROKR2
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
ANOS1
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia