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 1 1.5E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		6 0 1 1.7E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		9 0 1 1.6E-02 0 0
CUI: C4024963
Disease: Abnormal aggressive, impulsive or violent behavior
Abnormal aggressive, impulsive or violent behavior 		2 3 2 3.7E-02 2 2.9E-02
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 0 7 0.11 0 0
CUI: C4021520
Disease: Abnormal cerebral artery morphology
Abnormal cerebral artery morphology 		1 1 1 1.9E-02 1 1.4E-02
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		3 4 2 3.6E-02 1 1.4E-02
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 5 6.2E-02 2 1.9E-02
CUI: C4018849
Disease: Abnormal fear/anxiety-related behavior
Abnormal fear/anxiety-related behavior 		2 7 2 3.7E-02 5 7.0E-02
CUI: C4021095
Disease: Abnormal hypothalamus morphology
Abnormal hypothalamus morphology 		1 1 1 1.9E-02 1 1.4E-02
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		2 0 1 1.8E-02 0 0
CUI: C2749688
Disease: Abnormal isoelectric focusing of serum transferrin
Abnormal isoelectric focusing of serum transferrin 		7 10 1 1.7E-02 1 1.3E-02
CUI: C4023359
Disease: Abnormal maternal serum screening
Abnormal maternal serum screening 		1 0 1 1.9E-02 0 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		6 0 1 1.7E-02 0 0
CUI: C4025678
Disease: Abnormal trachea morphology
Abnormal trachea morphology 		1 1 1 1.9E-02 1 1.4E-02
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		6 6 1 1.7E-02 1 1.4E-02
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		103 0 2 1.3E-02 0 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		9 0 2 3.3E-02 0 0
CUI: C4025596
Disease: Abnormality of connective tissue
Abnormality of connective tissue 		3 0 2 3.6E-02 0 0
CUI: C4023353
Disease: Abnormality of coordination
Abnormality of coordination 		2 3 1 1.8E-02 2 2.9E-02
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		2 0 1 1.8E-02 0 0
CUI: C4023408
Disease: Abnormality of mouth size
Abnormality of mouth size 		3 0 3 5.6E-02 0 0
CUI: C4021663
Disease: Abnormality of muscle fibers
Abnormality of muscle fibers 		2 2 1 1.8E-02 1 1.4E-02
CUI: C4073245
Disease: Abnormality of neck blood vessel
Abnormality of neck blood vessel 		2 2 1 1.8E-02 1 1.4E-02
CUI: C4023691
Disease: Abnormality of pain sensation
Abnormality of pain sensation 		4 0 2 3.6E-02 0 0