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Diseases
Genes (446)
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COL2A1
Collagen, Type Ii, Alpha-1
Pseudoachondroplasia
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
KANK2
Nephrotic Syndrome, Type 16
Palmoplantar Keratoderma And Woolly Hair
ST3GAL3
Epileptic Encephalopathy, Early Infantile, 15
Mental Retardation, Autosomal Recessive 12
COMP
Pseudoachondroplasia
PAX6
Aniridia 3
SCNN1B
Liddle Syndrome 2
TFAP2B
Char Syndrome
KERA
Cornea Plana 2, Autosomal Recessive
VCP
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
RBM8A
Thrombocytopenia-Absent Radius Syndrome
AHDC1
Xia–gibbs Syndrome
SCN9A
Paroxysmal Extreme Pain Disorder
SAMD9L
Ataxia-Pancytopenia Syndrome
CRYBB3
Cataract 22, Multiple Types
SAMD9
Tumoral Calcinosis, Normophosphatemic, Familial
MAP3K20
Split-Foot Malformation With Mesoaxial Polydactyly
IFIH1
Singleton Merten Syndrome
KIDINS220
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
AGGF1
Klippel-Trenaunay-Weber Syndrome
PAH
Phenylketonuria