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: C0005744
Disease: Blepharophimosis
Blepharophimosis 		106 15 20 0.17 1 5.9E-02
CUI: C4021592
Disease: Unilateral primary pulmonary dysgenesis
Unilateral primary pulmonary dysgenesis 		5 0 5 0.15 0 0
CUI: C4025695
Disease: Right aortic arch with mirror image branching
Right aortic arch with mirror image branching 		7 0 5 0.14 0 0
CUI: C0795907
Disease: CONOTRUNCAL ANOMALY FACE SYNDROME
CONOTRUNCAL ANOMALY FACE SYNDROME 		18 0 5 0.11 0 0
CUI: C1860475
Disease: Retinal vascular tortuosity
Retinal vascular tortuosity 		20 0 5 0.10 0 0
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		39 0 6 9.0E-02 0 0
CUI: C0042454
Disease: Velopharyngeal Insufficiency
Velopharyngeal Insufficiency 		27 0 5 8.9E-02 0 0
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		71 0 8 8.2E-02 0 0
CUI: C1837341
Disease: Transposition of the Great Arteries, Dextro-Looped 1
Transposition of the Great Arteries, Dextro-Looped 1 		6 0 3 8.1E-02 0 0
CUI: C1835762
Disease: Widely-spaced maxillary central incisors
Widely-spaced maxillary central incisors 		7 0 3 7.9E-02 0 0
CUI: C1456784
Disease: Paranoia
Paranoia 		35 0 5 7.8E-02 0 0
CUI: C1836195
Disease: Short toe
Short toe 		56 0 6 7.1E-02 0 0
CUI: C0546967
Disease: Posterior embryotoxon
Posterior embryotoxon 		44 0 5 6.8E-02 0 0
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		91 16 8 6.8E-02 1 5.6E-02
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		46 0 5 6.7E-02 0 0
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae 		79 0 7 6.6E-02 0 0
CUI: C1837770
Disease: Sparse hair
Sparse hair 		112 0 9 6.6E-02 0 0
CUI: C0239181
Disease: Intermittent diarrhea
Intermittent diarrhea 		17 0 3 6.2E-02 0 0
CUI: C1866231
Disease: Full cheeks
Full cheeks 		103 0 8 6.2E-02 0 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		123 0 9 6.1E-02 0 0
CUI: C0431448
Disease: Absent eyebrow
Absent eyebrow 		19 0 3 6.0E-02 0 0
CUI: C1969238
Disease: Widely spaced toes
Widely spaced toes 		3 0 2 5.7E-02 0 0
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		96 0 7 5.7E-02 0 0
CUI: C1854111
Disease: Broad philtrum
Broad philtrum 		22 0 3 5.7E-02 0 0
CUI: C0018564
Disease: Hand deformities
Hand deformities 		60 0 5 5.6E-02 0 0