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: C3661485
Disease: 17p11.2 Monosomy
17p11.2 Monosomy 		1 0 1 0.14 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 16 2 2.2E-02 1 5.6E-02
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 1 1.6E-02 0 0
CUI: C4304529
Disease: 5q14.3 microdeletion syndrome
5q14.3 microdeletion syndrome 		1 0 1 0.14 0 0
CUI: C3711390
Disease: 9q22.3 Microdeletion
9q22.3 Microdeletion 		1 0 1 0.14 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 6 1 9.2E-03 1 0.12
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 18 2 6.5E-03 2 0.11
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 4 4.4E-03 0 0
CUI: C4023330
Disease: Abnormal Descemet membrane morphology
Abnormal Descemet membrane morphology 		2 1 1 0.12 1 0.33
CUI: C4018849
Disease: Abnormal fear/anxiety-related behavior
Abnormal fear/anxiety-related behavior 		5 0 1 9.1E-02 0 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 1 1.1E-02 0 0
CUI: C4021095
Disease: Abnormal hypothalamus morphology
Abnormal hypothalamus morphology 		4 0 1 1.0E-01 0 0
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		6 0 1 8.3E-02 0 0
CUI: C4020968
Disease: Abnormal localization of kidney
Abnormal localization of kidney 		40 0 1 2.2E-02 0 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		45 0 1 2.0E-02 0 0
CUI: C4551596
Disease: Abnormal renal morphology
Abnormal renal morphology 		35 0 1 2.4E-02 0 0
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology 		13 8 1 5.3E-02 1 1.0E-01
CUI: C1839341
Disease: Abnormal T-wave
Abnormal T-wave 		20 0 1 3.8E-02 0 0
CUI: C4021631
Disease: Abnormal tracheobronchial morphology
Abnormal tracheobronchial morphology 		4 0 1 1.0E-01 0 0
CUI: C4025842
Disease: Abnormal uvea morphology
Abnormal uvea morphology 		1 1 1 0.14 1 0.33
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		198 0 1 4.9E-03 0 0
CUI: C4025670
Disease: Abnormality of chromosome segregation
Abnormality of chromosome segregation 		5 0 2 0.20 0 0
CUI: C1859363
Disease: Abnormality of dental eruption
Abnormality of dental eruption 		10 1 1 6.2E-02 1 0.33
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		171 0 1 5.6E-03 0 0
CUI: C4023518
Disease: Abnormality of skin adnexa morphology
Abnormality of skin adnexa morphology 		2 0 1 0.12 0 0