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: C4304594
Disease: 16q24.3 microdeletion syndrome
16q24.3 microdeletion syndrome 		1 0 1 9.1E-02 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 16 2 2.1E-02 1 5.3E-02
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 1 8.8E-03 0 0
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		65 0 2 2.7E-02 0 0
CUI: C0855997
Disease: Abnormal basophil morphology
Abnormal basophil morphology 		3 0 1 7.7E-02 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 1 1.3E-02 0 0
CUI: C4023721
Disease: Abnormal hair pattern
Abnormal hair pattern 		15 0 1 4.0E-02 0 0
CUI: C2749688
Disease: Abnormal isoelectric focusing of serum transferrin
Abnormal isoelectric focusing of serum transferrin 		15 0 1 4.0E-02 0 0
CUI: C4476590
Disease: Abnormal morphology of the hippocampus
Abnormal morphology of the hippocampus 		1 0 1 9.1E-02 0 0
CUI: C4023694
Disease: Abnormal position of hair whorl
Abnormal position of hair whorl 		1 0 1 9.1E-02 0 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		115 0 1 8.0E-03 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 0 1 8.8E-03 0 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		198 0 1 4.8E-03 0 0
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		171 0 1 5.5E-03 0 0
CUI: C4023165
Disease: Abnormality of skeletal morphology
Abnormality of skeletal morphology 		1 2 1 9.1E-02 1 0.20
CUI: C4025813
Disease: Abnormality of subcutaneous fat tissue
Abnormality of subcutaneous fat tissue 		4 1 1 7.1E-02 1 0.25
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		140 0 1 6.7E-03 0 0
CUI: C4021386
Disease: Abnormality of the elbow
Abnormality of the elbow 		12 0 1 4.5E-02 0 0
CUI: C1856660
Disease: Abnormality of the helix
Abnormality of the helix 		21 2 1 3.2E-02 1 0.20
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		148 0 1 6.3E-03 0 0
CUI: C4021943
Disease: Abnormality of the xiphoid process
Abnormality of the xiphoid process 		1 0 1 9.1E-02 0 0
CUI: C4023915
Disease: Abnormally low-pitched voice
Abnormally low-pitched voice 		14 0 1 4.2E-02 0 0
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		89 0 1 1.0E-02 0 0
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		84 0 1 1.1E-02 0 0
CUI: C4023625
Disease: Absence of stomach bubble on fetal sonography
Absence of stomach bubble on fetal sonography 		1 1 1 9.1E-02 1 0.25