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: C4020740
Disease: Clinodactyly of the 4th toe
Clinodactyly of the 4th toe
5 4 2 0.12 2 0.33
CUI: C0007642
Disease: Cellulitis
Cellulitis
38 1 1 2.0E-02 1 0.25
CUI: C0549423
Disease: Obstructive Hydrocephalus
Obstructive Hydrocephalus
18 1 1 3.3E-02 1 0.25
CUI: C1855669
Disease: Absent frontal sinuses
Absent frontal sinuses
9 1 1 4.8E-02 1 0.25
CUI: C1856749
Disease: Aplastic/hypoplastic toenail
Aplastic/hypoplastic toenail
23 1 2 5.9E-02 1 0.25
CUI: C1856963
Disease: Fragile nails
Fragile nails
27 1 1 2.6E-02 1 0.25
Absent distal interphalangeal creases
6 1 1 5.6E-02 1 0.25
CUI: C1970591
Disease: Abnormal pupillary light reflex
Abnormal pupillary light reflex
2 1 1 7.1E-02 1 0.25
Complete duplication of thumb phalanx
8 1 1 5.0E-02 1 0.25
CUI: C4021160
Disease: Posterior plagiocephaly
Posterior plagiocephaly
2 1 1 7.1E-02 1 0.25
CUI: C4021845
Disease: Oromotor apraxia
Oromotor apraxia
5 1 1 5.9E-02 1 0.25
CUI: C4023465
Disease: EEG with occipital slowing
EEG with occipital slowing
1 1 1 7.7E-02 1 0.25
CUI: C4025537
Disease: Humerus varus
Humerus varus
2 1 1 7.1E-02 1 0.25
CUI: C4025881
Disease: Abnormal oral frenulum morphology
Abnormal oral frenulum morphology
19 1 1 3.2E-02 1 0.25
Abnormality of inferior oblique extraocular muscle
1 1 1 7.7E-02 1 0.25
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly
52 7 2 3.2E-02 2 0.22
CUI: C0086439
Disease: Hypokinesia
Hypokinesia
47 2 2 3.4E-02 1 0.20
CUI: C0428977
Disease: Bradycardia
Bradycardia
63 2 2 2.7E-02 1 0.20
CUI: C0431928
Disease: Congenital overgrowth of lower limb
Congenital overgrowth of lower limb
2 2 1 7.1E-02 1 0.20
CUI: C1446712
Disease: Overlapping fingers
Overlapping fingers
27 2 1 2.6E-02 1 0.20
CUI: C1829460
Disease: Tongue thrusting
Tongue thrusting
5 2 1 5.9E-02 1 0.20
Decreased circulating cortisol level
23 2 1 2.9E-02 1 0.20
CUI: C1856202
Disease: U-Shaped upper lip vermilion
U-Shaped upper lip vermilion
6 2 1 5.6E-02 1 0.20
CUI: C1858539
Disease: Shawl scrotum
Shawl scrotum
19 2 1 3.2E-02 1 0.20
CUI: C1865038
Disease: Broad toe
Broad toe
11 2 1 4.3E-02 1 0.20