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: C4518822
Disease: 17q12 microdeletion syndrome
17q12 microdeletion syndrome 		1 0 1 3.7E-02 0 0
CUI: C3665382
Disease: 2,8-Dihydroxyadenine Urolithiasis
2,8-Dihydroxyadenine Urolithiasis 		6 0 1 3.1E-02 0 0
CUI: C1291230
Disease: 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-Hydroxyacyl-CoA Dehydrogenase Deficiency 		4 0 1 3.3E-02 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 2 3.7E-02 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		11 0 1 2.7E-02 0 0
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		3 0 1 3.4E-02 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 1 1.5E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 1 7.8E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 9 2.8E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 4 4.3E-03 0 0
CUI: C4025630
Disease: Abnormal bone structure
Abnormal bone structure 		7 0 1 3.0E-02 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		59 0 1 1.2E-02 0 0
CUI: C4021787
Disease: Abnormal diaphysis morphology
Abnormal diaphysis morphology 		11 0 1 2.7E-02 0 0
CUI: C0349705
Disease: Abnormal hemoglobin finding
Abnormal hemoglobin finding 		9 0 1 2.9E-02 0 0
CUI: C4025102
Disease: Abnormal renal corticomedullary differentiation
Abnormal renal corticomedullary differentiation 		1 0 1 3.7E-02 0 0
CUI: C0151746
Disease: Abnormal renal function
Abnormal renal function 		12 0 1 2.6E-02 0 0
CUI: C4551596
Disease: Abnormal renal morphology
Abnormal renal morphology 		35 0 1 1.6E-02 0 0
CUI: C4022996
Disease: Abnormal sex determination
Abnormal sex determination 		15 0 1 2.4E-02 0 0
CUI: C4022829
Disease: Abnormal urine potassium concentration
Abnormal urine potassium concentration 		1 0 1 3.7E-02 0 0
CUI: C1856023
Disease: Abnormal vagina morphology
Abnormal vagina morphology 		12 0 1 2.6E-02 0 0
CUI: C4025328
Disease: Abnormality of alkaline phosphatase activity
Abnormality of alkaline phosphatase activity 		1 0 1 3.7E-02 0 0
CUI: C0850715
Disease: Abnormality of blood and blood-forming tissues
Abnormality of blood and blood-forming tissues 		23 0 1 2.0E-02 0 0
CUI: C4021634
Disease: Abnormality of bone marrow cell morphology
Abnormality of bone marrow cell morphology 		15 0 1 2.4E-02 0 0
CUI: C4021657
Disease: Abnormality of bone mineral density
Abnormality of bone mineral density 		22 0 2 4.3E-02 0 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		198 0 1 4.5E-03 0 0