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Diseases
Genes (893)
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SCN1A
Dravet Syndrome
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Trichohepatoenteric Syndrome 1
SCN1B
Dravet Syndrome
Generalized Epilepsy With Febrile Seizures Plus, Type 2
SCN9A
Dravet Syndrome
Generalized Epilepsy With Febrile Seizures Plus, Type 2
MED12
Fg Syndrome
COG8
Congenital Disorder Of Glycosylation, Type Iih
Protein Losing Enteropathy
GABRG2
Dravet Syndrome
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Trichohepatoenteric Syndrome 1
SCN2A
Dravet Syndrome
Generalized Epilepsy With Febrile Seizures Plus, Type 2
LGI1
Epilepsy, Familial Temporal Lobe, 1
Trichohepatoenteric Syndrome 1
HCCS
Linear Skin Defects With Multiple Congenital Anomalies 3
DICER1
Pinealoblastoma
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Trichohepatoenteric Syndrome 1
RECQL4
Baller–gerold Syndrome
RBM10
Tarp Syndrome
IFT122
Cranioectodermal Dysplasia 2
SUOX
Sulfite Oxidase Deficiency, Isolated
WDR35
Cranioectodermal Dysplasia 2
Trichohepatoenteric Syndrome 1
GALE
Galactose Epimerase Deficiency
NDUFB11
Linear Skin Defects With Multiple Congenital Anomalies 3
TTC37
Trichohepatoenteric Syndrome 1
ASPM
Microcephaly With Simplified Gyral Pattern
CDK5RAP2
Microcephaly With Simplified Gyral Pattern