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: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 1 7.4E-03 0 0
CUI: C1855126
Disease: 3-Methylglutaconic Aciduria Type IV
3-Methylglutaconic Aciduria Type IV 		4 0 1 1.2E-02 0 0
CUI: C3151952
Disease: 3-Methylglutaric aciduria
3-Methylglutaric aciduria 		3 0 1 1.2E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 18 3 7.9E-03 3 0.15
CUI: C4022987
Disease: Abnormal axonemal organization of respiratory motile cilia
Abnormal axonemal organization of respiratory motile cilia 		3 0 2 2.4E-02 0 0
CUI: C1260922
Disease: Abnormal breathing
Abnormal breathing 		5 0 2 2.4E-02 0 0
CUI: C4022985
Disease: Abnormal central microtubular pair morphology of respiratory motile cilia
Abnormal central microtubular pair morphology of respiratory motile cilia 		2 0 2 2.4E-02 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		36 0 5 4.4E-02 0 0
CUI: C4022983
Disease: Abnormal ciliary motility
Abnormal ciliary motility 		9 0 6 7.1E-02 0 0
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		9 0 1 1.1E-02 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 3 2.0E-02 0 0
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration 		17 0 1 1.0E-02 0 0
CUI: C4022922
Disease: Abnormal enzyme/coenzyme activity
Abnormal enzyme/coenzyme activity 		13 0 1 1.1E-02 0 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 3 1.8E-02 0 0
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology 		42 0 1 8.1E-03 0 0
CUI: C0278061
Disease: Abnormal mental state
Abnormal mental state 		24 0 1 9.5E-03 0 0
CUI: C4022764
Disease: Abnormal metabolic brain imaging by MRS
Abnormal metabolic brain imaging by MRS 		2 0 1 1.2E-02 0 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		45 0 1 7.9E-03 0 0
CUI: C4025881
Disease: Abnormal oral frenulum morphology
Abnormal oral frenulum morphology 		19 0 3 3.1E-02 0 0
CUI: C1837388
Disease: Abnormal pattern of respiration
Abnormal pattern of respiration 		20 0 1 9.9E-03 0 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		58 5 1 7.2E-03 2 0.25
CUI: C0231471
Disease: Abnormal posture
Abnormal posture 		13 0 1 1.1E-02 0 0
CUI: C0151746
Disease: Abnormal renal function
Abnormal renal function 		12 0 2 2.2E-02 0 0
CUI: C4025100
Disease: Abnormal respiratory motile cilium morphology
Abnormal respiratory motile cilium morphology 		5 0 4 4.8E-02 0 0
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology 		13 0 1 1.1E-02 0 0