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: C2047886
Disease: (Idiopathic) normal pressure hydrocephalus
(Idiopathic) normal pressure hydrocephalus 		14 0 1 1.7E-02 0 0
CUI: C4476858
Disease: 1-minute APGAR score of 1
1-minute APGAR score of 1 		1 0 1 2.2E-02 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 32 0.33 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		30 0 1 1.4E-02 0 0
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		11 0 1 1.8E-02 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 1 1.4E-02 0 0
CUI: C4476855
Disease: 5-minute APGAR score of 5
5-minute APGAR score of 5 		1 0 1 2.2E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 1 6.8E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 1 2.9E-03 0 0
CUI: C0238577
Disease: Abdominal wall defect
Abdominal wall defect 		8 0 1 1.9E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 11 1.2E-02 0 0
CUI: C4025858
Disease: Abnormal cochlea morphology
Abnormal cochlea morphology 		16 0 1 1.7E-02 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 1 8.8E-03 0 0
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration 		17 0 1 1.6E-02 0 0
CUI: C4021787
Disease: Abnormal diaphysis morphology
Abnormal diaphysis morphology 		11 0 1 1.8E-02 0 0
CUI: C4018849
Disease: Abnormal fear/anxiety-related behavior
Abnormal fear/anxiety-related behavior 		5 0 1 2.0E-02 0 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 2 1.5E-02 0 0
CUI: C4023721
Disease: Abnormal hair pattern
Abnormal hair pattern 		15 0 1 1.7E-02 0 0
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		6 0 1 2.0E-02 0 0
CUI: C4020968
Disease: Abnormal localization of kidney
Abnormal localization of kidney 		40 0 1 1.2E-02 0 0
CUI: C0278061
Disease: Abnormal mental state
Abnormal mental state 		24 0 2 3.0E-02 0 0
CUI: C4025759
Disease: Abnormal mitral valve morphology
Abnormal mitral valve morphology 		5 0 1 2.0E-02 0 0
CUI: C4022648
Disease: Abnormal muscle fiber dystrophin expression
Abnormal muscle fiber dystrophin expression 		1 0 1 2.2E-02 0 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		49 0 1 1.1E-02 0 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		45 0 1 1.1E-02 0 0