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: C4021757
Disease: EEG with polyspike wave complexes
EEG with polyspike wave complexes
30 0 17 0.13 0 0
CUI: C0020490
Disease: Hyperopia
Hyperopia
142 29 27 0.11 4 6.2E-02
CUI: C1837142
Disease: Poor suck
Poor suck
103 31 22 0.11 8 0.13
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
497 70 58 0.10 9 9.0E-02
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia
118 24 22 0.10 2 3.3E-02
CUI: C1277241
Disease: Delayed myelination
Delayed myelination
112 6 21 9.9E-02 1 2.3E-02
CUI: C0086437
Disease: Joint laxity
Joint laxity
224 15 31 9.9E-02 1 1.9E-02
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy
38 19 14 9.7E-02 2 3.6E-02
CUI: C1854882
Disease: Absent speech
Absent speech
232 72 31 9.6E-02 9 8.8E-02
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow
141 14 23 9.6E-02 1 1.9E-02
CUI: C1858127
Disease: Limb-girdle muscle weakness
Limb-girdle muscle weakness
41 0 14 9.5E-02 0 0
CUI: C1527344
Disease: Dysphonia
Dysphonia
77 0 17 9.4E-02 0 0
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip
125 8 21 9.3E-02 1 2.2E-02
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement
169 17 24 9.0E-02 1 1.8E-02
CUI: C4280747
Disease: Choking episodes
Choking episodes
12 0 11 9.0E-02 0 0
CUI: C1836047
Disease: Long face
Long face
182 0 25 9.0E-02 0 0
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion
79 8 16 8.7E-02 2 4.4E-02
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia
92 14 17 8.7E-02 2 3.9E-02
CUI: C0234860
Disease: Weak cry
Weak cry
42 4 13 8.7E-02 2 4.9E-02
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity
55 0 14 8.6E-02 0 0
CUI: C0038450
Disease: Stridor
Stridor
31 7 12 8.6E-02 2 4.5E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
417 30 42 8.5E-02 3 4.5E-02
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
74 12 15 8.3E-02 2 4.1E-02
CUI: C0012569
Disease: Diplopia
Diplopia
75 0 15 8.3E-02 0 0
CUI: C0856863
Disease: Broad-based gait
Broad-based gait
75 24 15 8.3E-02 4 6.8E-02