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Diseases
Genes (2845)
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ST3GAL3
Epileptic Encephalopathy, Early Infantile, 15
Mental Retardation, Autosomal Recessive 12
COMP
Pseudoachondroplasia
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
LIN28B
Neuroblastoma, Susceptibility To, 7
TNFAIP3
Haploinsufficiency Of A20
RBM8A
Thrombocytopenia-Absent Radius Syndrome
NTRK2
Epileptic Encephalopathy, Early Infantile, 15
Neuroblastoma, Susceptibility To, 7
PHOX2B
Pinealoblastoma
Neuroblastoma, Susceptibility To, 7
AHDC1
Xia–gibbs Syndrome
MKS1
Bardet-Biedl Syndrome 11
CD55
Neuroblastoma, Susceptibility To, 7
Protein Losing Enteropathy
SAMD9L
Ataxia-Pancytopenia Syndrome
MYCN
Pinealoblastoma
Neuroblastoma, Susceptibility To, 7
Trilateral Retinoblastoma
SAMD9
Tumoral Calcinosis, Normophosphatemic, Familial
CRYBB3
Cataract 22, Multiple Types
COL2A1
Pseudoachondroplasia
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
ALK
Neuroblastoma, Susceptibility To, 7
LMO1
Neuroblastoma, Susceptibility To, 7