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Diseases
Genes (582)
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UNC119
Unc119 Lipid-Binding Chaperone
Immunodeficiency 13
ST3GAL3
Epileptic Encephalopathy, Early Infantile, 15
Mental Retardation, Autosomal Recessive 12
PMM2
Pmm2 Deficiency
Epileptic Encephalopathy, Early Infantile, 15
ASL
Argininosuccinic Aciduria
COMP
Pseudoachondroplasia
KERA
Cornea Plana 2, Autosomal Recessive
SCNN1B
Liddle Syndrome 2
TNFAIP3
Haploinsufficiency Of A20
VCP
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
RBM8A
Thrombocytopenia-Absent Radius Syndrome
FH
Hereditary Leiomyomatosis And Renal Cell Cancer
AHDC1
Xia–gibbs Syndrome
LZTFL1
Unc119 Lipid-Binding Chaperone
Bardet-Biedl Syndrome 11
MKS1
Bardet-Biedl Syndrome 11
SAMD9L
Ataxia-Pancytopenia Syndrome
GAD1
Cerebral Palsy, Spastic Quadriplegic, 1
SAMD9
Tumoral Calcinosis, Normophosphatemic, Familial
CRYBB3
Cataract 22, Multiple Types
COL2A1
Pseudoachondroplasia
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
BBS10
Bardet-Biedl Syndrome 11