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 2 6.6E-03 2 4.0E-03
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		14 16 11 3.6E-02 10 2.0E-02
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		1 0 1 3.3E-03 0 0
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly 		2 0 1 3.3E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		6 6 3 9.8E-03 3 5.9E-03
CUI: C4014361
Disease: ABDOMINAL OBESITY-METABOLIC SYNDROME 3
ABDOMINAL OBESITY-METABOLIC SYNDROME 3 		2 0 1 3.3E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		9 11 4 1.3E-02 4 7.8E-03
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy 		3 0 1 3.3E-03 0 0
CUI: C4024963
Disease: Abnormal aggressive, impulsive or violent behavior
Abnormal aggressive, impulsive or violent behavior 		2 3 1 3.3E-03 1 2.0E-03
CUI: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential 		1 2 1 3.3E-03 2 4.0E-03
CUI: C4022745
Disease: Abnormal basal ganglia MRI signal intensity
Abnormal basal ganglia MRI signal intensity 		1 1 1 3.3E-03 1 2.0E-03
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 19 13 4.2E-02 8 1.6E-02
CUI: C4476566
Disease: Abnormal brain choline level by MRS
Abnormal brain choline level by MRS 		1 1 1 3.3E-03 1 2.0E-03
CUI: C4476564
Disease: Abnormal brain lactate level by MRS
Abnormal brain lactate level by MRS 		1 0 1 3.3E-03 0 0
CUI: C4025711
Disease: Abnormal caudate nucleus morphology
Abnormal caudate nucleus morphology 		1 1 1 3.3E-03 1 2.0E-03
CUI: C4021520
Disease: Abnormal cerebral artery morphology
Abnormal cerebral artery morphology 		1 1 1 3.3E-03 1 2.0E-03
CUI: C4022983
Disease: Abnormal ciliary motility
Abnormal ciliary motility 		4 5 2 6.6E-03 2 3.9E-03
CUI: C4021152
Disease: Abnormal CNS myelination
Abnormal CNS myelination 		3 4 3 9.9E-03 2 3.9E-03
CUI: C4025858
Disease: Abnormal cochlea morphology
Abnormal cochlea morphology 		1 1 1 3.3E-03 1 2.0E-03
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		4 5 3 9.9E-03 1 2.0E-03
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		3 4 2 6.6E-03 1 2.0E-03
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		3 4 2 6.6E-03 3 5.9E-03
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		12 10 8 2.6E-02 7 1.4E-02
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration 		4 12 2 6.6E-03 1 1.9E-03
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 16 5.0E-02 13 2.5E-02