Source: CLINVAR ×
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: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		14 0 2 2.2E-02 0 0
CUI: C3151064
Disease: 46,XY SEX REVERSAL 6
46,XY SEX REVERSAL 6 		1 6 1 1.2E-02 1 1.0E-02
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		6 0 1 1.2E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		9 0 1 1.1E-02 0 0
CUI: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology 		1 0 1 1.2E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 19 5 5.4E-02 3 2.8E-02
CUI: C4476564
Disease: Abnormal brain lactate level by MRS
Abnormal brain lactate level by MRS 		1 0 1 1.2E-02 0 0
CUI: C0234629
Disease: Abnormal color vision
Abnormal color vision 		5 5 1 1.2E-02 1 1.0E-02
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		3 0 1 1.2E-02 0 0
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		3 4 1 1.2E-02 1 1.0E-02
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 4 3.7E-02 2 1.6E-02
CUI: C4023330
Disease: Abnormal Descemet membrane morphology
Abnormal Descemet membrane morphology 		1 0 1 1.2E-02 0 0
CUI: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology 		1 0 1 1.2E-02 0 0
CUI: C4021095
Disease: Abnormal hypothalamus morphology
Abnormal hypothalamus morphology 		1 0 1 1.2E-02 0 0
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		2 0 1 1.2E-02 0 0
CUI: C4520679
Disease: Abnormal macular morphology
Abnormal macular morphology 		1 0 1 1.2E-02 0 0
CUI: C4023359
Disease: Abnormal maternal serum screening
Abnormal maternal serum screening 		1 0 1 1.2E-02 0 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		6 0 1 1.2E-02 0 0
CUI: C4025100
Disease: Abnormal respiratory motile cilium morphology
Abnormal respiratory motile cilium morphology 		2 0 1 1.2E-02 0 0
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology 		5 0 1 1.2E-02 0 0
CUI: C4023458
Disease: Abnormal shape of the frontal region
Abnormal shape of the frontal region 		2 0 1 1.2E-02 0 0
CUI: C4022770
Disease: Abnormal thalamic MRI signal intensity
Abnormal thalamic MRI signal intensity 		2 6 1 1.2E-02 1 1.0E-02
CUI: C4025842
Disease: Abnormal uvea morphology
Abnormal uvea morphology 		1 0 1 1.2E-02 0 0
CUI: C4476886
Disease: Abnormal vena cava morphology
Abnormal vena cava morphology 		1 1 1 1.2E-02 1 1.1E-02
CUI: C0241665
Disease: Abnormal venous morphology
Abnormal venous morphology 		1 1 1 1.2E-02 1 1.1E-02