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 9.1E-02 0 0
CUI: C2677682
Disease: Rett Syndrome, Zappella Variant
Rett Syndrome, Zappella Variant
1 0 1 9.1E-02 0 0
Chromosome Xq28 Duplication Syndrome
1 0 1 9.1E-02 0 0
Type I familial incomplete male pseudohermaphroditism
1 0 1 9.1E-02 0 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
1 0 1 9.1E-02 0 0
CUI: C3279888
Disease: Frontal lobe atrophy
Frontal lobe atrophy
1 0 1 9.1E-02 0 0
Benign paroxysmal torticollis of infancy
1 0 1 9.1E-02 0 0
CUI: C3713418
Disease: Ppm-X Syndrome
Ppm-X Syndrome
1 0 1 9.1E-02 0 0
CUI: C3714043
Disease: Trisomy Xq28
Trisomy Xq28
1 0 1 9.1E-02 0 0
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17
1 0 1 9.1E-02 0 0
EPISODIC ATAXIA, TYPE 2, AND EPILEPSY
1 0 1 9.1E-02 0 0
CUI: C4021571
Disease: Abnormal vestibulo-ocular reflex
Abnormal vestibulo-ocular reflex
1 0 1 9.1E-02 0 0
Maternal anticardiolipin antibody positive
1 0 1 9.1E-02 0 0
CUI: C4025796
Disease: Abnormality of the fingertips
Abnormality of the fingertips
1 0 1 9.1E-02 0 0
CUI: C4304529
Disease: 5q14.3 microdeletion syndrome
5q14.3 microdeletion syndrome
1 0 1 9.1E-02 0 0
CUI: C4305240
Disease: 14q12 microdeletion syndrome
14q12 microdeletion syndrome
1 0 1 9.1E-02 0 0
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
1 0 1 9.1E-02 0 0
NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS
1 0 1 9.1E-02 0 0
NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS
1 0 1 9.1E-02 0 0
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59
1 0 1 9.1E-02 0 0
CUI: C4749855
Disease: 14q11.2 microduplication syndrome
14q11.2 microduplication syndrome
1 0 1 9.1E-02 0 0
Cryptogenic late-onset epileptic spasms
1 0 1 9.1E-02 0 0
CUI: C0233778
Disease: Synesthesia
Synesthesia
2 0 1 8.3E-02 0 0
CUI: C0477373
Disease: Other forms of migraine
Other forms of migraine
2 0 1 8.3E-02 0 0
CUI: C0751355
Disease: Polymyoclonus
Polymyoclonus
2 0 1 8.3E-02 0 0