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 16 7 4.2E-02 6 2.3E-02
CUI: C3553597
Disease: 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME
3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME 		1 7 1 6.3E-03 1 4.0E-03
CUI: C3151952
Disease: 3-Methylglutaric aciduria
3-Methylglutaric aciduria 		1 0 1 6.3E-03 0 0
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly 		2 0 1 6.2E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		6 6 2 1.2E-02 1 4.0E-03
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		9 0 1 6.0E-03 0 0
CUI: C4024963
Disease: Abnormal aggressive, impulsive or violent behavior
Abnormal aggressive, impulsive or violent behavior 		2 0 1 6.2E-03 0 0
CUI: C4022745
Disease: Abnormal basal ganglia MRI signal intensity
Abnormal basal ganglia MRI signal intensity 		1 1 1 6.3E-03 1 4.1E-03
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 19 5 2.9E-02 3 1.1E-02
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		4 10 2 1.2E-02 3 1.2E-02
CUI: C4476566
Disease: Abnormal brain choline level by MRS
Abnormal brain choline level by MRS 		1 0 1 6.3E-03 0 0
CUI: C4476564
Disease: Abnormal brain lactate level by MRS
Abnormal brain lactate level by MRS 		1 1 1 6.3E-03 1 4.1E-03
CUI: C1260922
Disease: Abnormal breathing
Abnormal breathing 		2 2 2 1.3E-02 2 8.1E-03
CUI: C4025711
Disease: Abnormal caudate nucleus morphology
Abnormal caudate nucleus morphology 		1 0 1 6.3E-03 0 0
CUI: C4022983
Disease: Abnormal ciliary motility
Abnormal ciliary motility 		4 5 2 1.2E-02 2 8.0E-03
CUI: C4021152
Disease: Abnormal CNS myelination
Abnormal CNS myelination 		3 4 2 1.2E-02 1 4.0E-03
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		4 5 2 1.2E-02 1 4.0E-03
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		3 0 1 6.2E-03 0 0
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		3 4 1 6.2E-03 2 8.1E-03
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		12 10 4 2.4E-02 2 7.9E-03
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 5 2.7E-02 7 2.5E-02
CUI: C4023330
Disease: Abnormal Descemet membrane morphology
Abnormal Descemet membrane morphology 		1 1 1 6.3E-03 1 4.1E-03
CUI: C4020949
Disease: Abnormal emotion/affect behavior
Abnormal emotion/affect behavior 		3 13 1 6.2E-03 1 3.9E-03
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology 		1 1 1 6.3E-03 1 4.1E-03
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		2 2 1 6.2E-03 1 4.0E-03