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: C3277849
Disease: 17,20-Lyase Deficiency, Isolated
17,20-Lyase Deficiency, Isolated 		1 0 1 1.4E-02 0 0
CUI: C4329212
Disease: 17-Alpha-Hydroxylase/17,20 Lyase Deficiency
17-Alpha-Hydroxylase/17,20 Lyase Deficiency 		4 0 1 1.4E-02 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 1 6.5E-03 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 1 8.1E-03 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 1 1.1E-02 0 0
CUI: C2930930
Disease: Abdominal obesity metabolic syndrome
Abdominal obesity metabolic syndrome 		10 0 1 1.3E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 8 8.2E-03 0 0
CUI: C0857898
Disease: Abnormal circulating aldosterone
Abnormal circulating aldosterone 		2 0 1 1.4E-02 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		59 0 1 7.8E-03 0 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 1 6.3E-03 0 0
CUI: C4025887
Disease: Abnormal oral cavity morphology
Abnormal oral cavity morphology 		12 0 1 1.2E-02 0 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		58 0 1 7.9E-03 0 0
CUI: C4551596
Disease: Abnormal renal morphology
Abnormal renal morphology 		35 0 1 9.6E-03 0 0
CUI: C4022996
Disease: Abnormal sex determination
Abnormal sex determination 		15 0 1 1.2E-02 0 0
CUI: C4021087
Disease: Abnormal social behavior
Abnormal social behavior 		19 0 1 1.1E-02 0 0
CUI: C4025723
Disease: Abnormal upper motor neuron morphology
Abnormal upper motor neuron morphology 		20 0 1 1.1E-02 0 0
CUI: C1834129
Disease: Abnormal vertebral morphology
Abnormal vertebral morphology 		28 0 1 1.0E-02 0 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		115 0 1 5.4E-03 0 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		198 0 1 3.7E-03 0 0
CUI: C3550704
Disease: Abnormality of digit
Abnormality of digit 		9 0 1 1.3E-02 0 0
CUI: C2674737
Disease: Abnormality of finger
Abnormality of finger 		8 0 1 1.3E-02 0 0
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		171 0 1 4.2E-03 0 0
CUI: C4023405
Disease: Abnormality of ocular abduction
Abnormality of ocular abduction 		1 0 1 1.4E-02 0 0
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
Abnormality of pelvic girdle bone morphology 		55 0 1 8.1E-03 0 0
CUI: C4025843
Disease: Abnormality of refraction
Abnormality of refraction 		28 0 1 1.0E-02 0 0