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Diseases
Genes (1075)
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PROM1
Stargardt Disease 4
Cone-Rod Dystrophy 12
Cone-Rod Dystrophy 11
Macular Dystrophy, Retinal, 2
MAGEL2
Schaaf-Yang Syndrome
Schaaf-Yang Syndrome
ABCA4
Stargardt Disease 4
Cone-Rod Dystrophy 11
ATRX
Alpha-Thalassemia Mental Retardation Syndrome
SLC40A1
Hemochromatosis Type 4
SH2D1A
Lymphoproliferative Syndrome, X-Linked, 2
PRPH2
Stargardt Disease 4
Cone-Rod Dystrophy 11
Macular Dystrophy, Patterned, 1
FMR1
Renpenning's Syndrome
Fragile X-Associated Tremor/ataxia Syndrome
Schaaf-Yang Syndrome
PQBP1
Renpenning's Syndrome
CEACAM16
Deafness, Autosomal Dominant 4a
Deafness, Autosomal Dominant 4b
PMM2
Pmm2 Deficiency
PDGFRB
Primary Familial Brain Calcification
Chordoma, Susceptibility To
Unicameral Bone Cyst
CRX
Pinealoblastoma
Stargardt Disease 4
Cone-Rod Dystrophy 11
SLC2A1
Glucose Transporter Type 1 Deficiency Syndrome
Basal-Like Carcinoma
SNRPN
Cone-Rod Dystrophy 11
Schaaf-Yang Syndrome
SLC20A2
Primary Familial Brain Calcification
GALE
Galactose Epimerase Deficiency
ZNF335
Microcephaly 10, Primary, Autosomal Recessive
MYH14
Deafness, Autosomal Dominant 4a
FARS2
Spastic Paraplegia 77, Autosomal Recessive