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Diseases
Genes (885)
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TP53
Disseminated Superficial Actinic Porokeratosis
Alopecia, Androgenetic, 1
Pulmonary Sclerosing Pneumocytoma
Li–fraumeni Syndrome
Basal-Like Carcinoma
Alpha-Thalassemia Mental Retardation Syndrome
Neurofibroma
Chordoma, Susceptibility To
SLC26A4
Enlarged Vestibular Aqueduct
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
SLC40A1
Hemochromatosis Type 4
ABHD5
Cerebral Creatine Deficiency
FOXI1
Enlarged Vestibular Aqueduct
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
KCNJ10
Enlarged Vestibular Aqueduct
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
ATRX
Alpha-Thalassemia Mental Retardation Syndrome
Neurofibroma
MYO5B
Microvillus Inclusion Disease
FMR1
Renpenning's Syndrome
Fragile X-Associated Tremor/ataxia Syndrome
GAMT
Guanidinoacetate Methyltransferase Deficiency
PQBP1
Renpenning's Syndrome
PMM2
Pmm2 Deficiency
SLC2A1
Basal-Like Carcinoma
Glucose Transporter Type 1 Deficiency Syndrome
ALS2
Infantile-Onset Ascending Hereditary Spastic Paralysis
PDGFRB
Cerebral Creatine Deficiency
Primary Familial Brain Calcification
Neurofibroma
Chordoma, Susceptibility To
SLC20A2
Primary Familial Brain Calcification
GALE
Galactose Epimerase Deficiency
CHEK2
Li–fraumeni Syndrome
Chordoma, Susceptibility To
MAGEL2
Schaaf-Yang Syndrome
MC2R
Familial Glucocorticoid Deficiency