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Diseases
Genes (2895)
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ST3GAL3
Epileptic Encephalopathy, Early Infantile, 15
Mental Retardation, Autosomal Recessive 12
PMM2
Pmm2 Deficiency
Epileptic Encephalopathy, Early Infantile, 15
SPINK5
Netherton Syndrome
ASL
Argininosuccinic Aciduria
SLC6A19
Hartnup Disease
COMP
Pseudoachondroplasia
TNFAIP3
Haploinsufficiency Of A20
SCNN1B
Liddle Syndrome 2
KERA
Cornea Plana 2, Autosomal Recessive
VCP
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
LIN28B
Neuroblastoma, Susceptibility To, 7
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
SAMD9L
Ataxia-Pancytopenia Syndrome
SAMD9
Tumoral Calcinosis, Normophosphatemic, Familial
MYCN
Pinealoblastoma
Neuroblastoma, Susceptibility To, 7
Trilateral Retinoblastoma
CRYBB3
Cataract 22, Multiple Types