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: C0423791
Disease: Maculopapular Lesion
Maculopapular Lesion
16 28 8 0.14 27 0.30
CUI: C0683322
Disease: Mental impairment
Mental impairment
10 13 4 7.3E-02 3 3.0E-02
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
26 31 5 7.1E-02 3 2.5E-02
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial
12 0 4 7.0E-02 0 0
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
31 0 5 6.7E-02 0 0
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
74 0 7 6.0E-02 0 0
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia
24 5 4 5.8E-02 1 1.1E-02
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
6 7 3 5.8E-02 4 4.3E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance
211 411 14 5.7E-02 10 2.0E-02
CUI: C0752210
Disease: Dyskinesias, Paroxysmal
Dyskinesias, Paroxysmal
7 0 3 5.7E-02 0 0
CUI: C0241210
Disease: Speech Delay
Speech Delay
11 0 3 5.3E-02 0 0
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
11 76 3 5.3E-02 1 6.1E-03
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms
14 0 3 5.0E-02 0 0
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly
66 0 5 4.5E-02 0 0
CUI: C1843392
Disease: Death in childhood
Death in childhood
25 0 3 4.2E-02 0 0
CUI: C0563243
Disease: Poor coordination
Poor coordination
26 0 3 4.2E-02 0 0
CUI: C1441613
Disease: Immune diffusion
Immune diffusion
2 1 2 4.1E-02 1 1.1E-02
CUI: C1846135
Disease: Autistic features
Autistic features
2 1 2 4.1E-02 1 1.1E-02
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
2 0 2 4.1E-02 0 0
CUI: C1863062
Disease: Episodic quadriplegia
Episodic quadriplegia
2 0 2 4.1E-02 0 0
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3
2 0 2 4.1E-02 0 0
CUI: C2751756
Disease: Febrile Convulsions, Familial, 3a
Febrile Convulsions, Familial, 3a
2 0 2 4.1E-02 0 0
CUI: C4021330
Disease: Curved toe phalanx
Curved toe phalanx
2 0 2 4.1E-02 0 0
Mesial temporal lobe epilepsy with hippocampal sclerosis
2 0 2 4.1E-02 0 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
105 94 6 4.1E-02 1 5.5E-03