Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES
1 0 1 1.00 0 0
CUI: C1704274
Disease: Intrauterine adhesions
Intrauterine adhesions
24 0 1 4.2E-02 0 0
CUI: C0427086
Disease: Involuntary Movements
Involuntary Movements
37 0 1 2.7E-02 0 0
CUI: C4023687
Disease: EEG with multifocal slow activity
EEG with multifocal slow activity
41 0 1 2.4E-02 0 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination
49 0 1 2.0E-02 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology
70 0 1 1.4E-02 0 0
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy
71 0 1 1.4E-02 0 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia
77 0 1 1.3E-02 0 0
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis
92 0 1 1.1E-02 0 0
Congenital Disorders of Glycosylation
102 38 1 9.8E-03 1 2.6E-02
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures
105 0 1 9.5E-03 0 0
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign
116 0 1 8.6E-03 0 0
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration
125 0 1 8.0E-03 0 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision
127 0 1 7.9E-03 0 0
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady
143 0 1 7.0E-03 0 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia
152 0 1 6.6E-03 0 0
CUI: C1836038
Disease: Poor head control
Poor head control
162 0 1 6.2E-03 0 0
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement
169 0 1 5.9E-03 0 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
187 0 1 5.3E-03 0 0
CUI: C1658953
Disease: tumor vasculature
tumor vasculature
200 0 1 5.0E-03 0 0
CUI: C0239676
Disease: High forehead
High forehead
211 0 1 4.7E-03 0 0
CUI: C0020608
Disease: Hypodontia
Hypodontia
218 0 1 4.6E-03 0 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking
224 0 1 4.5E-03 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
227 0 1 4.4E-03 0 0
CUI: C0242350
Disease: Erectile dysfunction
Erectile dysfunction
256 0 1 3.9E-03 0 0