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: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		20 0 3 5.5E-02 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 16 3 2.5E-02 1 3.6E-02
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 1 1.1E-02 0 0
CUI: C1856889
Disease: 3-4 finger syndactyly
3-4 finger syndactyly 		4 0 1 2.4E-02 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development 		6 0 1 2.3E-02 0 0
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		11 0 1 2.1E-02 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 1 1.5E-02 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 1 1.6E-02 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		11 0 1 2.1E-02 0 0
CUI: C3266843
Disease: 47, XYY syndrome
47, XYY syndrome 		9 0 1 2.2E-02 0 0
CUI: C3711390
Disease: 9q22.3 Microdeletion
9q22.3 Microdeletion 		1 0 1 2.6E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 3 2.2E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 1 2.9E-03 0 0
CUI: C4021527
Disease: Abdominal wall muscle weakness
Abdominal wall muscle weakness 		9 0 2 4.4E-02 0 0
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy 		8 0 1 2.2E-02 0 0
CUI: C4021524
Disease: Abnormal adipose tissue morphology
Abnormal adipose tissue morphology 		6 0 1 2.3E-02 0 0
CUI: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology 		29 0 1 1.5E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 7 7.4E-03 0 0
CUI: C0231557
Disease: Abnormal bone formation
Abnormal bone formation 		12 0 1 2.0E-02 0 0
CUI: C4025211
Disease: Abnormal carotid artery morphology
Abnormal carotid artery morphology 		32 0 1 1.4E-02 0 0
CUI: C4022983
Disease: Abnormal ciliary motility
Abnormal ciliary motility 		9 0 1 2.2E-02 0 0
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology 		41 0 2 2.6E-02 0 0
CUI: C4023330
Disease: Abnormal Descemet membrane morphology
Abnormal Descemet membrane morphology 		2 1 1 2.6E-02 1 7.7E-02
CUI: C4021787
Disease: Abnormal diaphysis morphology
Abnormal diaphysis morphology 		11 0 1 2.1E-02 0 0
CUI: C4025628
Disease: Abnormal enchondral ossification
Abnormal enchondral ossification 		4 0 1 2.4E-02 0 0