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Diseases
Genes (1232)
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ABHD5
Cerebral Creatine Deficiency
GAMT
Guanidinoacetate Methyltransferase Deficiency
GJA1
Neurodegeneration With Brain Iron Accumulation
Lewis Lung Carcinoma
Oculodentodigital Dysplasia
PROM1
Stargardt Disease 4
Osteochondroma
Cone-Rod Dystrophy 12
ATRX
Alpha-Thalassemia Mental Retardation Syndrome
ABCA4
Stargardt Disease 4
WRN
Werner Syndrome
FMR1
Renpenning's Syndrome
Fragile X-Associated Tremor/ataxia Syndrome
PQBP1
Renpenning's Syndrome
PMM2
Pmm2 Deficiency
GNAS
Meconium Aspiration Syndrome
Mccune-Albright Syndrome
GALE
Galactose Epimerase Deficiency
SLC26A4
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
SLC20A2
Primary Familial Brain Calcification
MAGEL2
Schaaf-Yang Syndrome
PDGFRB
Cerebral Creatine Deficiency
Primary Familial Brain Calcification
POLA1
X-Linked Reticulate Pigmentary Disorder
ZNF335
Microcephaly 10, Primary, Autosomal Recessive
IL1B
Renpenning's Syndrome
Alopecia, Androgenetic, 1
X-Linked Reticulate Pigmentary Disorder
Glucagonoma
Cystinosis
Lewis Lung Carcinoma
Polymyositis
Werner Syndrome
Merrf Syndrome
IL1A
Polymyositis
Werner Syndrome
Merrf Syndrome