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Diseases
Genes (570)
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COL2A1
Collagen, Type Ii, Alpha-1
Pseudoachondroplasia
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
KANK2
Palmoplantar Keratoderma And Woolly Hair
Nephrotic Syndrome, Type 16
ST3GAL3
Epileptic Encephalopathy, Early Infantile, 15
Mental Retardation, Autosomal Recessive 12
COMP
Pseudoachondroplasia
PAX6
Aniridia 3
KERA
Cornea Plana 2, Autosomal Recessive
SCNN1B
Liddle Syndrome 2
VCP
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
RBM8A
Thrombocytopenia-Absent Radius Syndrome
AHDC1
Xia–gibbs Syndrome
MKS1
Bardet-Biedl Syndrome 11
SAMD9L
Ataxia-Pancytopenia Syndrome
SAMD9
Tumoral Calcinosis, Normophosphatemic, Familial
CRYBB3
Cataract 22, Multiple Types
BBS10
Bardet-Biedl Syndrome 11
MAP3K20
Split-Foot Malformation With Mesoaxial Polydactyly
NPHP1
Diverticulum
Bardet-Biedl Syndrome 11
Nephronophthisis 16
KIDINS220
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
SDCCAG8
Bardet-Biedl Syndrome 11
LZTFL1
Bardet-Biedl Syndrome 11