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Diseases
Genes (1053)
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PROM1
Stargardt Disease 4
Cone-Rod Dystrophy 12
Cone-Rod Dystrophy 11
Macular Dystrophy, Retinal, 2
PRPH2
Stargardt Disease 4
Cone-Rod Dystrophy 11
Macular Dystrophy, Patterned, 1
Macular Dystrophy, Vitelliform, 3
MAGEL2
Schaaf-Yang Syndrome
Schaaf-Yang Syndrome
ABCA4
Stargardt Disease 4
Cone-Rod Dystrophy 11
PMM2
Pmm2 Deficiency
ATRX
Alpha-Thalassemia Mental Retardation Syndrome
ASL
Argininosuccinic Aciduria
SLC40A1
Hemochromatosis Type 4
SH2D1A
Lymphoproliferative Syndrome, X-Linked, 2
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
PDGFRB
Unicameral Bone Cyst
Primary Familial Brain Calcification
Chordoma, Susceptibility To
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
SLC26A4
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
ZNF335
Microcephaly 10, Primary, Autosomal Recessive