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: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		8 0 1 7.1E-02 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 1 2.1E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 1 9.2E-03 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		36 0 1 2.4E-02 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 2 2.7E-02 0 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 1 2.6E-02 2 5.0E-02
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern 		44 0 1 2.0E-02 0 0
CUI: C4025628
Disease: Abnormal enchondral ossification
Abnormal enchondral ossification 		4 0 1 1.0E-01 0 0
CUI: C4021241
Disease: Abnormal foot bone ossification
Abnormal foot bone ossification 		3 0 1 0.11 0 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 2 2.1E-02 0 0
CUI: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity 		29 0 1 2.9E-02 0 0
CUI: C4021244
Disease: Abnormal hand bone ossification
Abnormal hand bone ossification 		2 0 1 0.12 0 0
CUI: C4021810
Disease: Abnormal location of ears
Abnormal location of ears 		1 1 1 0.14 1 0.20
CUI: C4022764
Disease: Abnormal metabolic brain imaging by MRS
Abnormal metabolic brain imaging by MRS 		2 2 1 0.12 2 0.40
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		45 0 1 2.0E-02 0 0
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function 		21 0 1 3.7E-02 0 0
CUI: C4020957
Disease: Abnormal trabecular bone morphology
Abnormal trabecular bone morphology 		6 0 1 8.3E-02 0 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		115 0 2 1.7E-02 0 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		198 0 1 4.9E-03 0 0
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		59 0 2 3.1E-02 0 0
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		86 0 1 1.1E-02 0 0
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
Abnormality of pelvic girdle bone morphology 		55 5 3 5.1E-02 5 1.00
CUI: C3164374
Disease: Abnormality of pulmonary valve
Abnormality of pulmonary valve 		40 0 1 2.2E-02 0 0
CUI: C4024110
Disease: Abnormality of the 5th metacarpal
Abnormality of the 5th metacarpal 		2 0 2 0.29 0 0
CUI: C4520981
Disease: Abnormality of the basal ganglia
Abnormality of the basal ganglia 		17 0 2 9.1E-02 0 0