Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C2748576
Disease: Renal sodium wasting
Renal sodium wasting
1 0 1 0.33 0 0
Refractory juvenile myoclonic epilepsy
1 0 1 0.33 0 0
Sudden Unexplained Death in Childhood
1 0 1 0.33 0 0
Gamma aminobutyric acid transaminase deficiency
2 0 1 0.25 0 0
CUI: C0393676
Disease: Panayiotopoulos Syndrome
Panayiotopoulos Syndrome
2 0 1 0.25 0 0
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3
2 0 1 0.25 0 0
CUI: C2751756
Disease: Febrile Convulsions, Familial, 3a
Febrile Convulsions, Familial, 3a
2 0 1 0.25 0 0
SCN8A-related epilepsy with encephalopathy
2 0 1 0.25 0 0
CUI: C3698357
Disease: Refractory myoclonic epilepsy
Refractory myoclonic epilepsy
2 0 1 0.25 0 0
CUI: C4274731
Disease: Jeavons syndrome
Jeavons syndrome
2 0 1 0.25 0 0
CUI: C0240928
Disease: Salt craving
Salt craving
3 0 1 0.20 0 0
Hemiplegia-hemiconvulsion-epilepsy syndrome
3 0 1 0.20 0 0
EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICAL TALUS
3 0 1 0.20 0 0
CUI: C2607947
Disease: Unilateral deafness
Unilateral deafness
3 0 1 0.20 0 0
CUI: C4023408
Disease: Abnormality of mouth size
Abnormality of mouth size
3 0 1 0.20 0 0
Generalized Nonconvulsive Seizure Disorder
4 0 1 0.17 0 0
CUI: C0086236
Disease: Epilepsy, Atonic
Epilepsy, Atonic
4 0 1 0.17 0 0
CUI: C0086241
Disease: Epilepsy, Tonic
Epilepsy, Tonic
4 0 1 0.17 0 0
CUI: C0347869
Disease: Epilepsy, Akinetic
Epilepsy, Akinetic
4 0 1 0.17 0 0
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
4 0 1 0.17 0 0
CUI: C1863752
Disease: Enlarged Vestibular Aqueduct
Enlarged Vestibular Aqueduct
4 0 1 0.17 0 0
Early Infantile Epileptic Encephalopathy 6
4 0 1 0.17 0 0
CUI: C0234784
Disease: Reflex, Gag, Absent
Reflex, Gag, Absent
5 0 1 0.14 0 0
CUI: C0239154
Disease: High pitched cry
High pitched cry
5 0 1 0.14 0 0
CUI: C0241772
Disease: Reflex, Deep Tendon, Absent
Reflex, Deep Tendon, Absent
5 0 1 0.14 0 0