Source: ALL
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: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		145 10 21 9.1E-02 4 0.19
CUI: C1853738
Disease: Long eyelashes
Long eyelashes 		83 17 9 5.0E-02 4 0.14
CUI: C0878660
Disease: Proportionate short stature
Proportionate short stature 		19 11 5 4.2E-02 3 0.13
CUI: C4225323
Disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME
BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME 		1 3 1 9.4E-03 2 0.12
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 25 16 5.3E-02 4 0.11
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		85 7 11 6.1E-02 2 1.0E-01
CUI: C1837770
Disease: Sparse hair
Sparse hair 		112 9 18 9.0E-02 2 9.1E-02
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		96 11 11 5.8E-02 2 8.3E-02
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
Mental Retardation, X-Linked, Syndromic, Turner Type 		1 25 1 9.4E-03 3 8.1E-02
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		123 13 17 8.0E-02 2 7.7E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 11 3.4E-02 6 7.4E-02
CUI: C0010043
Disease: Corneal Ulcer
Corneal Ulcer 		33 1 1 7.2E-03 1 6.7E-02
CUI: C0239676
Disease: High forehead
High forehead 		211 17 26 8.9E-02 2 6.7E-02
CUI: C0426900
Disease: Tibial torsion
Tibial torsion 		12 1 1 8.5E-03 1 6.7E-02
CUI: C1839125
Disease: Say Meyer syndrome
Say Meyer syndrome 		1 1 1 9.4E-03 1 6.7E-02
CUI: C1859775
Disease: Anterior pituitary hypoplasia
Anterior pituitary hypoplasia 		18 1 1 8.1E-03 1 6.7E-02
CUI: C4021829
Disease: Narrow nail
Narrow nail 		2 1 1 9.3E-03 1 6.7E-02
CUI: C4023771
Disease: Anterior pituitary dysgenesis
Anterior pituitary dysgenesis 		1 1 1 9.4E-03 1 6.7E-02
CUI: C0424448
Disease: Mask-like facies
Mask-like facies 		64 2 4 2.4E-02 1 6.2E-02
CUI: C1281931
Disease: Obstruction of nasolacrimal duct
Obstruction of nasolacrimal duct 		12 2 1 8.5E-03 1 6.2E-02
CUI: C1836646
Disease: Dermal translucency
Dermal translucency 		10 2 3 2.7E-02 1 6.2E-02
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule 		59 2 2 1.2E-02 1 6.2E-02
CUI: C4023458
Disease: Abnormal shape of the frontal region
Abnormal shape of the frontal region 		2 2 1 9.3E-03 1 6.2E-02
CUI: C0005741
Disease: Blepharitis
Blepharitis 		55 3 3 1.9E-02 1 5.9E-02
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening 		43 3 4 2.8E-02 1 5.9E-02