Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Abnormality of mitochondrial metabolism
21 3 2 1.7E-02 2 0.22
CUI: C1856121
Disease: Broad eyebrow
Broad eyebrow
11 4 3 2.8E-02 2 0.20
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding)
45 7 5 3.6E-02 2 0.15
CUI: C0239815
Disease: Hand clenching
Hand clenching
26 9 2 1.6E-02 2 0.13
CUI: C0238210
Disease: Malrotation of kidney
Malrotation of kidney
8 1 1 9.4E-03 1 0.12
CUI: C0267048
Disease: Glossoptosis
Glossoptosis
25 1 5 4.2E-02 1 0.12
CUI: C0431448
Disease: Absent eyebrow
Absent eyebrow
19 1 5 4.4E-02 1 0.12
CUI: C0576227
Disease: Narrow foot
Narrow foot
6 1 1 9.6E-03 1 0.12
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum
105 10 26 0.15 2 0.12
CUI: C1834696
Disease: Hyporeflexia of lower limbs
Hyporeflexia of lower limbs
19 1 2 1.7E-02 1 0.12
Widely-spaced maxillary central incisors
7 1 2 1.9E-02 1 0.12
CUI: C1836835
Disease: Hyporeflexia of upper limbs
Hyporeflexia of upper limbs
5 1 1 9.7E-03 1 0.12
CUI: C1837650
Disease: Lack of spontaneous play
Lack of spontaneous play
5 1 1 9.7E-03 1 0.12
CUI: C1843005
Disease: Absent eyelashes
Absent eyelashes
21 1 4 3.4E-02 1 0.12
Increased anterioposterior diameter of thorax
3 1 3 3.0E-02 1 0.12
CUI: C1850325
Disease: Labial hypoplasia
Labial hypoplasia
7 1 1 9.5E-03 1 0.12
CUI: C1856477
Disease: Slowed horizontal saccades
Slowed horizontal saccades
3 1 1 9.9E-03 1 0.12
CUI: C1859442
Disease: Minimal subcutaneous fat
Minimal subcutaneous fat
4 1 2 2.0E-02 1 0.12
CUI: C3552821
Disease: EEG with photoparoxysmal response
EEG with photoparoxysmal response
3 1 1 9.9E-03 1 0.12
Broad proximal phalanx of the hallux
1 1 1 1.0E-02 1 0.12
Abnormality of the tympanic membrane
1 1 1 1.0E-02 1 0.12
Shortening of all phalanges of fingers
3 1 1 9.9E-03 1 0.12
CUI: C4024780
Disease: Almond-shaped palpebral fissure
Almond-shaped palpebral fissure
40 1 2 1.5E-02 1 0.12
CUI: C4025190
Disease: Abnormal epiglottis morphology
Abnormal epiglottis morphology
2 1 1 1.0E-02 1 0.12
CUI: C4072908
Disease: Induced vaginal delivery
Induced vaginal delivery
10 10 2 1.9E-02 2 0.12