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 1.2E-02 0 0
CUI: C4022987
Disease: Abnormal axonemal organization of respiratory motile cilia
Abnormal axonemal organization of respiratory motile cilia 		3 0 1 3.1E-02 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		36 0 3 4.8E-02 0 0
CUI: C4022983
Disease: Abnormal ciliary motility
Abnormal ciliary motility 		9 0 2 5.4E-02 0 0
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		9 0 2 5.4E-02 0 0
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology 		41 0 1 1.4E-02 0 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 1 8.5E-03 0 0
CUI: C4025100
Disease: Abnormal respiratory motile cilium morphology
Abnormal respiratory motile cilium morphology 		5 0 2 6.1E-02 0 0
CUI: C1834129
Disease: Abnormal vertebral morphology
Abnormal vertebral morphology 		28 0 1 1.8E-02 0 0
CUI: C4020869
Disease: Abnormality of abdomen morphology
Abnormality of abdomen morphology 		17 0 2 4.4E-02 0 0
CUI: C4021657
Disease: Abnormality of bone mineral density
Abnormality of bone mineral density 		22 0 1 2.0E-02 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 0 1 7.5E-03 0 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		198 0 3 1.3E-02 0 0
CUI: C4023689
Disease: Abnormality of copper homeostasis
Abnormality of copper homeostasis 		3 0 1 3.1E-02 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 1 4.1E-03 0 0
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		70 0 3 3.1E-02 0 0
CUI: C3808249
Disease: Abnormality of the optic disc
Abnormality of the optic disc 		26 0 1 1.8E-02 0 0
CUI: C4025885
Disease: Abnormality of the uvula
Abnormality of the uvula 		2 0 1 3.2E-02 0 0
CUI: C4021789
Disease: Abnormality of the vertebral column
Abnormality of the vertebral column 		24 0 1 1.9E-02 0 0
CUI: C1855669
Disease: Absent frontal sinuses
Absent frontal sinuses 		9 0 1 2.6E-02 0 0
CUI: C4022986
Disease: Absent inner and outer dynein arms
Absent inner and outer dynein arms 		7 0 1 2.8E-02 0 0
CUI: C4022988
Disease: Absent inner dynein arms
Absent inner dynein arms 		2 0 1 3.2E-02 0 0
CUI: C1405984
Disease: Absent radius
Absent radius 		24 0 1 1.9E-02 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 0 1 3.8E-03 0 0
CUI: C0266011
Disease: Accessory nipple
Accessory nipple 		38 0 1 1.5E-02 0 0