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: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 1 1.8E-02 0 0
CUI: C0265404
Disease: 4q partial monosomy syndrome
4q partial monosomy syndrome 		1 0 1 0.33 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 1 1.1E-03 0 0
CUI: C4021803
Disease: Abnormal eyelid morphology
Abnormal eyelid morphology 		10 0 1 8.3E-02 0 0
CUI: C4023721
Disease: Abnormal hair pattern
Abnormal hair pattern 		15 0 1 5.9E-02 0 0
CUI: C4025810
Disease: Abnormal palmar dermatoglyphics
Abnormal palmar dermatoglyphics 		5 0 2 0.33 0 0
CUI: C3164445
Disease: Abnormality of aortic valve
Abnormality of aortic valve 		50 0 2 3.9E-02 0 0
CUI: C4025901
Disease: Abnormality of body height
Abnormality of body height 		18 0 1 5.0E-02 0 0
CUI: C4021657
Disease: Abnormality of bone mineral density
Abnormality of bone mineral density 		22 0 2 8.7E-02 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 0 1 9.4E-03 0 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		198 0 2 1.0E-02 0 0
CUI: C4025900
Disease: Abnormality of female internal genitalia
Abnormality of female internal genitalia 		31 0 2 6.2E-02 0 0
CUI: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		42 0 2 4.7E-02 0 0
CUI: C4021794
Disease: Abnormality of the adrenal glands
Abnormality of the adrenal glands 		10 0 2 0.18 0 0
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		140 0 1 7.0E-03 0 0
CUI: C4021777
Disease: Abnormality of the larynx
Abnormality of the larynx 		11 0 1 7.7E-02 0 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		97 0 1 1.0E-02 0 0
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		95 0 2 2.1E-02 0 0
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		69 0 2 2.9E-02 0 0
CUI: C4021655
Disease: Abnormality of the sense of smell
Abnormality of the sense of smell 		14 0 1 6.2E-02 0 0
CUI: C4021776
Disease: Abnormality of the voice
Abnormality of the voice 		64 0 1 1.5E-02 0 0
CUI: C4025663
Disease: Abnormality of tibia morphology
Abnormality of tibia morphology 		13 0 2 0.14 0 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		127 0 2 1.6E-02 0 0
CUI: C1844862
Disease: Abruzzo Erickson syndrome
Abruzzo Erickson syndrome 		2 0 1 0.25 0 0
CUI: C1846228
Disease: Absence of pubertal development
Absence of pubertal development 		24 0 1 3.8E-02 0 0