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Diseases
Genes (970)
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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
ABHD5
Cerebral Creatine Deficiency
RUNX2
Renpenning's Syndrome
Cleidocranial Dysostosis
ATRX
Alpha-Thalassemia Mental Retardation Syndrome
SLC40A1
Hemochromatosis Type 4
SH2D1A
Lymphoproliferative Syndrome, X-Linked, 2
SNAP29
Cerebral Dysgenesis–neuropathy–ichthyosis–keratoderma Syndrome
PRPH2
Stargardt Disease 4
Cone-Rod Dystrophy 11
Macular Dystrophy, Patterned, 1
GAMT
Guanidinoacetate Methyltransferase Deficiency
FMR1
Renpenning's Syndrome
Fragile X-Associated Tremor/ataxia Syndrome
Schaaf-Yang Syndrome
CEACAM16
Deafness, Autosomal Dominant 4a
Deafness, Autosomal Dominant 4b
PQBP1
Renpenning's Syndrome
PMM2
Pmm2 Deficiency
CRX
Pinealoblastoma
Stargardt Disease 4
Cone-Rod Dystrophy 11
SNRPN
Cone-Rod Dystrophy 11
Schaaf-Yang Syndrome
SLC2A1
Glucose Transporter Type 1 Deficiency Syndrome
PDGFRB
Cerebral Creatine Deficiency
Chordoma, Susceptibility To
Primary Familial Brain Calcification
SLC20A2
Primary Familial Brain Calcification