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: C0271007
Disease: Phthisis bulbi
Phthisis bulbi
11 0 4 7.0E-02 0 0
CUI: C1849510
Disease: Prenatal movement abnormality
Prenatal movement abnormality
11 0 4 7.0E-02 0 0
CUI: C4023808
Disease: Hyperextensibility at elbow
Hyperextensibility at elbow
11 7 4 7.0E-02 1 1.6E-02
CUI: C4072903
Disease: Primary Caesarian section
Primary Caesarian section
11 15 4 7.0E-02 6 9.0E-02
CUI: C1836150
Disease: Gait imbalance
Gait imbalance
57 24 7 7.0E-02 6 7.9E-02
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment
136 27 12 6.9E-02 11 0.15
CUI: C0034194
Disease: Pyloric Stenosis
Pyloric Stenosis
121 4 11 6.9E-02 3 5.1E-02
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow
141 14 12 6.7E-02 1 1.4E-02
CUI: C0015310
Disease: Exotropia
Exotropia
78 23 8 6.7E-02 5 6.6E-02
CUI: C0454641
Disease: Expressive language delay
Expressive language delay
30 25 5 6.7E-02 4 5.1E-02
CUI: C4023915
Disease: Abnormally low-pitched voice
Abnormally low-pitched voice
14 0 4 6.7E-02 0 0
CUI: C2673670
Disease: Curly eyelashes
Curly eyelashes
15 0 4 6.6E-02 0 0
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress
64 34 7 6.5E-02 8 9.5E-02
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion
211 25 16 6.5E-02 1 1.2E-02
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome
48 0 6 6.5E-02 0 0
CUI: C1865572
Disease: Proximal placement of thumb
Proximal placement of thumb
32 0 5 6.5E-02 0 0
Bilateral single transverse palmar creases
65 0 7 6.5E-02 0 0
CUI: C0578038
Disease: Thin lips
Thin lips
99 0 9 6.4E-02 0 0
CUI: C1845251
Disease: Facial hypotonia
Facial hypotonia
33 6 5 6.4E-02 1 1.6E-02
CUI: C0236018
Disease: Aura
Aura
83 0 8 6.4E-02 0 0
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
83 0 8 6.4E-02 0 0
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis
50 14 6 6.4E-02 1 1.4E-02
CUI: C0002418
Disease: Amblyopia
Amblyopia
85 29 8 6.3E-02 4 4.8E-02
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly
52 0 6 6.2E-02 0 0
CUI: C0566899
Disease: Small labia majora
Small labia majora
35 3 5 6.2E-02 1 1.7E-02