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: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly 		2 0 1 1.1E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		6 0 1 1.1E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		9 11 2 2.1E-02 2 1.7E-02
CUI: C4024963
Disease: Abnormal aggressive, impulsive or violent behavior
Abnormal aggressive, impulsive or violent behavior 		2 0 1 1.1E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 19 5 5.1E-02 3 2.5E-02
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		3 4 1 1.1E-02 2 1.9E-02
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 0 2 1.7E-02 0 0
CUI: C4025190
Disease: Abnormal epiglottis morphology
Abnormal epiglottis morphology 		1 0 1 1.1E-02 0 0
CUI: C4018849
Disease: Abnormal fear/anxiety-related behavior
Abnormal fear/anxiety-related behavior 		2 0 1 1.1E-02 0 0
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		2 0 1 1.1E-02 0 0
CUI: C2749688
Disease: Abnormal isoelectric focusing of serum transferrin
Abnormal isoelectric focusing of serum transferrin 		7 0 1 1.1E-02 0 0
CUI: C4023359
Disease: Abnormal maternal serum screening
Abnormal maternal serum screening 		1 0 1 1.1E-02 0 0
CUI: C4025759
Disease: Abnormal mitral valve morphology
Abnormal mitral valve morphology 		1 2 1 1.1E-02 1 9.3E-03
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		6 0 1 1.1E-02 0 0
CUI: C0221199
Disease: Abnormal palmar creases
Abnormal palmar creases 		3 0 1 1.1E-02 0 0
CUI: C4073132
Disease: Abnormal pelvis bone morphology
Abnormal pelvis bone morphology 		1 0 1 1.1E-02 0 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		4 5 1 1.1E-02 2 1.8E-02
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function 		2 2 2 2.3E-02 1 9.3E-03
CUI: C0855742
Disease: Abnormal platelet morphology
Abnormal platelet morphology 		1 1 1 1.1E-02 1 9.4E-03
CUI: C4022866
Disease: Abnormal platelet shape
Abnormal platelet shape 		1 1 1 1.1E-02 1 9.4E-03
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology 		5 8 1 1.1E-02 2 1.8E-02
CUI: C4025753
Disease: Abnormal tricuspid valve morphology
Abnormal tricuspid valve morphology 		1 1 1 1.1E-02 1 9.4E-03
CUI: C3164445
Disease: Abnormality of aortic valve
Abnormality of aortic valve 		2 2 1 1.1E-02 1 9.3E-03
CUI: C4021657
Disease: Abnormality of bone mineral density
Abnormality of bone mineral density 		1 0 1 1.1E-02 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		103 131 3 1.6E-02 2 8.5E-03