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: C4025858
Disease: Abnormal cochlea morphology
Abnormal cochlea morphology 		16 0 1 4.8E-02 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 1 1.3E-02 0 0
CUI: C4025825
Disease: Abnormal external genitalia
Abnormal external genitalia 		3 0 2 0.29 0 0
CUI: C2749688
Disease: Abnormal isoelectric focusing of serum transferrin
Abnormal isoelectric focusing of serum transferrin 		15 0 1 5.0E-02 0 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		58 0 1 1.6E-02 0 0
CUI: C4025250
Disease: Abnormal sacrum morphology
Abnormal sacrum morphology 		17 0 1 4.5E-02 0 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		115 0 1 8.3E-03 0 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		198 0 4 2.0E-02 0 0
CUI: C4025712
Disease: Abnormality of the cerebellar vermis
Abnormality of the cerebellar vermis 		6 0 1 9.1E-02 0 0
CUI: C4021792
Disease: Abnormality of the clavicle
Abnormality of the clavicle 		42 0 2 4.3E-02 0 0
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		140 0 1 6.9E-03 0 0
CUI: C4021816
Disease: Abnormality of the gingiva
Abnormality of the gingiva 		13 0 1 5.6E-02 0 0
CUI: C1856660
Disease: Abnormality of the helix
Abnormality of the helix 		21 0 1 3.8E-02 0 0
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		40 0 1 2.2E-02 0 0
CUI: C4025249
Disease: Abnormality of the intervertebral disk
Abnormality of the intervertebral disk 		30 0 1 2.9E-02 0 0
CUI: C4025750
Disease: Abnormality of the nasopharynx
Abnormality of the nasopharynx 		10 0 1 6.7E-02 0 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		85 0 1 1.1E-02 0 0
CUI: C4021532
Disease: Abnormality of the stapes
Abnormality of the stapes 		1 0 1 0.17 0 0
CUI: C1840382
Disease: Abnormality of the ureter
Abnormality of the ureter 		19 0 1 4.2E-02 0 0
CUI: C4020917
Disease: Absent fifth fingernail
Absent fifth fingernail 		2 0 2 0.33 0 0
CUI: C4021892
Disease: Absent fifth toenail
Absent fifth toenail 		3 0 1 0.12 0 0
CUI: C1844554
Disease: Absent fingernail
Absent fingernail 		19 0 2 8.7E-02 0 0
CUI: C4021081
Disease: Absent nail of hallux
Absent nail of hallux 		1 0 1 0.17 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 2 8.5E-03 1 1.3E-02
CUI: C4022849
Disease: Absent thumbnail
Absent thumbnail 		15 0 1 5.0E-02 0 0