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: C1867131
Disease: Broad hallux
Broad hallux
48 14 9 7.6E-02 4 0.22
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES
1 5 1 1.3E-02 2 0.18
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
180 8 25 0.11 2 0.14
CUI: C0024636
Disease: Malocclusion
Malocclusion
128 10 9 4.5E-02 2 0.12
CUI: C0240479
Disease: Neck muscle weakness
Neck muscle weakness
49 1 1 7.9E-03 1 0.12
CUI: C0267048
Disease: Glossoptosis
Glossoptosis
25 1 1 9.7E-03 1 0.12
CUI: C0423823
Disease: Thin nails
Thin nails
10 1 1 1.1E-02 1 0.12
CUI: C0423867
Disease: Fine hair
Fine hair
69 1 15 0.11 1 0.12
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum
105 10 18 0.11 2 0.12
CUI: C1832348
Disease: Slow-growing hair
Slow-growing hair
35 1 4 3.6E-02 1 0.12
CUI: C1835238
Disease: Slow-growing nails
Slow-growing nails
1 1 1 1.3E-02 1 0.12
CUI: C1844709
Disease: Radial deviation of the 2nd finger
Radial deviation of the 2nd finger
7 1 1 1.2E-02 1 0.12
CUI: C1844891
Disease: Ulnar deviation of the 2nd finger
Ulnar deviation of the 2nd finger
6 1 1 1.2E-02 1 0.12
CUI: C1873509
Disease: Hypotrichosis of the scalp
Hypotrichosis of the scalp
12 1 1 1.1E-02 1 0.12
Premature eruption of permanent teeth
1 1 1 1.3E-02 1 0.12
CUI: C4021975
Disease: Abnormality of the tonsils
Abnormality of the tonsils
12 1 2 2.2E-02 1 0.12
Abnormality of the tympanic membrane
1 1 1 1.3E-02 1 0.12
Tapering pointed ends of distal finger phalanges
4 1 1 1.2E-02 1 0.12
Fifth finger distal phalanx clinodactyly
2 1 2 2.5E-02 1 0.12
CUI: C4025190
Disease: Abnormal epiglottis morphology
Abnormal epiglottis morphology
2 1 1 1.3E-02 1 0.12
Abnormality of nasopharyngeal adenoids
1 1 1 1.3E-02 1 0.12
CUI: C0426891
Disease: Broad thumbs
Broad thumbs
67 11 8 5.8E-02 2 0.12
CUI: C0011052
Disease: Prelingual Deafness
Prelingual Deafness
22 2 2 2.0E-02 1 0.11
CUI: C0040457
Disease: Tooth, Supernumerary
Tooth, Supernumerary
31 2 6 5.8E-02 1 0.11
CUI: C0152441
Disease: Madelung Deformity
Madelung Deformity
8 2 3 3.6E-02 1 0.11