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Diseases
Genes (925)
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PROM1
Stargardt Disease 4
Cone-Rod Dystrophy 12
Cone-Rod Dystrophy 11
Macular Dystrophy, Retinal, 2
ABCA4
Stargardt Disease 4
Cone-Rod Dystrophy 11
ATRX
Joint Stiffness
Alpha-Thalassemia Mental Retardation Syndrome
PMM2
Pmm2 Deficiency
ASL
Argininosuccinic Aciduria
PQBP1
Renpenning's Syndrome
Ankylosis
FMR1
Renpenning's Syndrome
Fragile X-Associated Tremor/ataxia Syndrome
CRX
Pinealoblastoma
Stargardt Disease 4
Cone-Rod Dystrophy 11
PDGFRB
Chordoma, Susceptibility To
Primary Familial Brain Calcification
SLC20A2
Primary Familial Brain Calcification
GALE
Galactose Epimerase Deficiency
MAGEL2
Schaaf-Yang Syndrome
ZNF335
Microcephaly 10, Primary, Autosomal Recessive
FARS2
Spastic Paraplegia 77, Autosomal Recessive
PRPH2
Stargardt Disease 4
Cone-Rod Dystrophy 11
TBXT
Chordoma, Susceptibility To
SMARCD1
Foot Deformity
Hand Deformity
PIGB
Foot Deformity
Hand Deformity
GSTZ1
Maleylacetoacetate Isomerase Deficiency
ELOVL4
Stargardt Disease 4
Cone-Rod Dystrophy 11