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: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		31 0 1 2.4E-02 0 0
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		12 0 1 4.3E-02 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 1 2.5E-02 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		11 0 1 4.5E-02 0 0
CUI: C4015129
Disease: 46,XY SEX REVERSAL 9
46,XY SEX REVERSAL 9 		2 0 2 0.17 0 0
CUI: C4304529
Disease: 5q14.3 microdeletion syndrome
5q14.3 microdeletion syndrome 		1 0 1 8.3E-02 0 0
CUI: C0266574
Disease: Ablepharon
Ablepharon 		20 0 1 3.2E-02 0 0
CUI: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity 		29 0 1 2.5E-02 0 0
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology 		42 0 1 1.9E-02 0 0
CUI: C0685695
Disease: Abnormal lung lobation
Abnormal lung lobation 		32 0 1 2.3E-02 0 0
CUI: C4025252
Disease: Abnormal nasal morphology
Abnormal nasal morphology 		34 0 1 2.2E-02 0 0
CUI: C4025881
Disease: Abnormal oral frenulum morphology
Abnormal oral frenulum morphology 		19 0 1 3.3E-02 0 0
CUI: C4023170
Disease: Abnormal oral mucosa morphology
Abnormal oral mucosa morphology 		6 0 1 5.9E-02 0 0
CUI: C4022996
Disease: Abnormal sex determination
Abnormal sex determination 		15 0 1 3.8E-02 0 0
CUI: C3163801
Disease: Abnormality of aortic arch
Abnormality of aortic arch 		13 0 1 4.2E-02 0 0
CUI: C3164445
Disease: Abnormality of aortic valve
Abnormality of aortic valve 		50 0 1 1.6E-02 0 0
CUI: C4021634
Disease: Abnormality of bone marrow cell morphology
Abnormality of bone marrow cell morphology 		15 0 1 3.8E-02 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 0 1 8.7E-03 0 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		198 0 1 4.8E-03 0 0
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		96 0 1 9.3E-03 0 0
CUI: C4025900
Disease: Abnormality of female internal genitalia
Abnormality of female internal genitalia 		31 0 1 2.4E-02 0 0
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		171 0 1 5.5E-03 0 0
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
Abnormality of pelvic girdle bone morphology 		55 0 1 1.5E-02 0 0
CUI: C3164374
Disease: Abnormality of pulmonary valve
Abnormality of pulmonary valve 		40 0 1 2.0E-02 0 0
CUI: C4021395
Disease: Abnormality of the antihelix
Abnormality of the antihelix 		17 0 1 3.6E-02 0 0