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: C1836038
Disease: Poor head control
Poor head control
162 0 62 0.23 0 0
CUI: C4023687
Disease: EEG with multifocal slow activity
EEG with multifocal slow activity
41 0 37 0.21 0 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking
224 0 67 0.21 0 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination
49 0 37 0.20 0 0
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios
208 28 60 0.19 2 4.7E-02
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology
70 0 38 0.19 0 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia
77 0 39 0.19 0 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
312 0 75 0.18 0 0
CUI: C1837142
Disease: Poor suck
Poor suck
103 31 42 0.18 7 0.17
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia
169 45 46 0.16 2 3.3E-02
CUI: C0239676
Disease: High forehead
High forehead
211 0 51 0.16 0 0
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
198 33 48 0.15 1 2.0E-02
CUI: C0566620
Disease: Nasal voice
Nasal voice
93 0 34 0.15 0 0
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration
125 0 38 0.15 0 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision
127 0 38 0.15 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
595 57 98 0.15 1 1.4E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
473 62 82 0.15 5 6.8E-02
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities
115 16 36 0.15 1 3.1E-02
Respiratory insufficiency due to muscle weakness
85 0 32 0.14 0 0
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady
143 0 39 0.14 0 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia
152 0 40 0.14 0 0
CUI: C0033377
Disease: Ptosis
Ptosis
607 0 96 0.14 0 0
CUI: C0234860
Disease: Weak cry
Weak cry
42 0 26 0.14 0 0
CUI: C0020608
Disease: Hypodontia
Hypodontia
218 0 47 0.14 0 0
CUI: C1854301
Disease: Motor delay
Motor delay
384 0 66 0.14 0 0