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: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 1 3.2E-03 0 0
CUI: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential 		11 0 1 5.6E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 2 2.2E-03 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		75 0 1 1.2E-02 0 0
CUI: C4022798
Disease: Abnormal brain FDG positron emission tomography
Abnormal brain FDG positron emission tomography 		18 0 1 4.0E-02 0 0
CUI: C0240083
Disease: Abnormal joint morphology
Abnormal joint morphology 		6 0 1 7.7E-02 0 0
CUI: C1865412
Disease: Abnormal lower motor neuron morphology
Abnormal lower motor neuron morphology 		23 0 1 3.3E-02 0 0
CUI: C4025745
Disease: Abnormal metatarsal morphology
Abnormal metatarsal morphology 		1 0 1 0.12 0 0
CUI: C4014650
Disease: Abnormal mitochondrial morphology
Abnormal mitochondrial morphology 		13 0 1 5.0E-02 0 0
CUI: C1866772
Disease: Abnormal nerve conduction velocity
Abnormal nerve conduction velocity 		5 0 1 8.3E-02 0 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		58 0 1 1.5E-02 0 0
CUI: C4025723
Disease: Abnormal upper motor neuron morphology
Abnormal upper motor neuron morphology 		20 0 1 3.7E-02 0 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		115 6 1 8.2E-03 1 0.17
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential 		55 0 1 1.6E-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: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		86 0 1 1.1E-02 0 0
CUI: C4021750
Disease: Abnormality of femur morphology
Abnormality of femur morphology 		33 0 1 2.5E-02 0 0
CUI: C4025076
Disease: Abnormality of hand joint mobility
Abnormality of hand joint mobility 		1 0 1 0.12 0 0
CUI: C4021165
Disease: Abnormality of long bone morphology
Abnormality of long bone morphology 		3 0 3 0.38 0 0
CUI: C4293672
Disease: Abnormality of mesentery morphology
Abnormality of mesentery morphology 		3 0 1 1.0E-01 0 0
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		171 0 1 5.6E-03 0 0
CUI: C4021755
Disease: Abnormality of midbrain morphology
Abnormality of midbrain morphology 		2 1 1 0.11 1 1.00
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
Abnormality of pelvic girdle bone morphology 		55 0 1 1.6E-02 0 0
CUI: C1840535
Disease: Abnormality of the carpal bones
Abnormality of the carpal bones 		6 0 1 7.7E-02 0 0
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		40 0 2 4.3E-02 0 0