Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Epileptic Encephalopathy, Early Infantile, 4
1 0 1 2.4E-02 0 0
CUI: C2748541
Disease: Brugada Syndrome 5
Brugada Syndrome 5
1 0 1 2.4E-02 0 0
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10
1 0 1 2.4E-02 0 0
CUI: C2751682
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 2
NEUROBLASTOMA, SUSCEPTIBILITY TO, 2
1 0 1 2.4E-02 0 0
Hirschsprung disease ganglioneuroblastoma
1 0 1 2.4E-02 0 0
CUI: C2829265
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 86
DEAFNESS, AUTOSOMAL RECESSIVE 86
1 0 1 2.4E-02 0 0
CUI: C2959380
Disease: Folliculosebaceous cystic hamartoma
Folliculosebaceous cystic hamartoma
1 0 1 2.4E-02 0 0
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
1 0 1 2.4E-02 0 0
CUI: C3203523
Disease: Acute repetitive seizure
Acute repetitive seizure
1 0 1 2.4E-02 0 0
Refractory juvenile myoclonic epilepsy
1 0 1 2.4E-02 0 0
Combined Malonic and Methylmalonic Aciduria
1 0 1 2.4E-02 0 0
COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA
1 0 1 2.4E-02 0 0
Early infantile epileptic encephalopathy, refractory
1 0 1 2.4E-02 0 0
SINOATRIAL NODE DYSFUNCTION AND DEAFNESS
1 0 1 2.4E-02 0 0
Macular hypopigmented whorls, streaks, and patches
1 0 1 2.4E-02 0 0
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16
1 0 1 2.4E-02 0 0
Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004)
1 0 1 2.4E-02 0 0
CUI: C3809311
Disease: ATRIAL FIBRILLATION, FAMILIAL, 13
ATRIAL FIBRILLATION, FAMILIAL, 13
1 0 1 2.4E-02 0 0
PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES
1 0 1 2.4E-02 0 0
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19
1 0 1 2.4E-02 0 0
CUI: C3825235
Disease: Visceral reflex
Visceral reflex
1 0 1 2.4E-02 0 0
Sudden Unexplained Death in Childhood
1 0 1 2.4E-02 0 0
CUI: C3892048
Disease: DEAFNESS, AUTOSOMAL DOMINANT 65
DEAFNESS, AUTOSOMAL DOMINANT 65
1 0 1 2.4E-02 0 0
POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL
1 0 1 2.4E-02 0 0
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
1 0 1 2.4E-02 0 0