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: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		3 3 1 4.7E-03 1 2.4E-03
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		14 16 4 1.8E-02 1 2.3E-03
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		1 9 1 4.7E-03 2 4.8E-03
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly 		2 2 2 9.5E-03 1 2.4E-03
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		6 0 1 4.6E-03 0 0
CUI: C4014361
Disease: ABDOMINAL OBESITY-METABOLIC SYNDROME 3
ABDOMINAL OBESITY-METABOLIC SYNDROME 3 		2 0 1 4.7E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		9 11 2 9.2E-03 2 4.8E-03
CUI: C4024963
Disease: Abnormal aggressive, impulsive or violent behavior
Abnormal aggressive, impulsive or violent behavior 		2 3 1 4.7E-03 1 2.4E-03
CUI: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology 		1 1 1 4.7E-03 1 2.4E-03
CUI: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential 		1 2 1 4.7E-03 1 2.4E-03
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 19 8 3.7E-02 4 9.4E-03
CUI: C4021520
Disease: Abnormal cerebral artery morphology
Abnormal cerebral artery morphology 		1 1 1 4.7E-03 1 2.4E-03
CUI: C4021152
Disease: Abnormal CNS myelination
Abnormal CNS myelination 		3 4 2 9.4E-03 1 2.4E-03
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		0 5 0 0 1 2.4E-03
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		3 0 1 4.7E-03 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		12 10 5 2.3E-02 2 4.8E-03
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration 		4 0 1 4.7E-03 0 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 8 3.4E-02 4 9.0E-03
CUI: C4023330
Disease: Abnormal Descemet membrane morphology
Abnormal Descemet membrane morphology 		1 1 1 4.7E-03 1 2.4E-03
CUI: C4020949
Disease: Abnormal emotion/affect behavior
Abnormal emotion/affect behavior 		3 13 2 9.4E-03 11 2.7E-02
CUI: C1859481
Disease: Abnormal finger flexion creases
Abnormal finger flexion creases 		0 1 0 0 1 2.4E-03
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology 		1 0 1 4.7E-03 0 0
CUI: C4021095
Disease: Abnormal hypothalamus morphology
Abnormal hypothalamus morphology 		1 1 1 4.7E-03 1 2.4E-03
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		2 0 2 9.5E-03 0 0
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		2 2 1 4.7E-03 1 2.4E-03