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 4 2.3E-02 1 3.9E-03
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly 		2 0 1 6.1E-03 0 0
CUI: C2936420
Disease: 46, XX Gonadal Sex Reversal
46, XX Gonadal Sex Reversal 		1 0 1 6.2E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		6 0 1 6.0E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		9 11 2 1.2E-02 1 4.0E-03
CUI: C4022745
Disease: Abnormal basal ganglia MRI signal intensity
Abnormal basal ganglia MRI signal intensity 		1 0 1 6.2E-03 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 0 4 2.3E-02 0 0
CUI: C4476566
Disease: Abnormal brain choline level by MRS
Abnormal brain choline level by MRS 		1 0 1 6.2E-03 0 0
CUI: C4476564
Disease: Abnormal brain lactate level by MRS
Abnormal brain lactate level by MRS 		1 0 1 6.2E-03 0 0
CUI: C4025711
Disease: Abnormal caudate nucleus morphology
Abnormal caudate nucleus morphology 		1 0 1 6.2E-03 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		3 0 1 6.1E-03 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		12 0 4 2.4E-02 0 0
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration 		4 0 1 6.1E-03 0 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 3 1.6E-02 1 3.6E-03
CUI: C4020949
Disease: Abnormal emotion/affect behavior
Abnormal emotion/affect behavior 		3 13 2 1.2E-02 2 8.0E-03
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology 		1 0 1 6.2E-03 0 0
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		2 0 2 1.2E-02 0 0
CUI: C2749688
Disease: Abnormal isoelectric focusing of serum transferrin
Abnormal isoelectric focusing of serum transferrin 		7 10 1 6.0E-03 1 4.0E-03
CUI: C0852413
Disease: Abnormal muscle tone
Abnormal muscle tone 		7 0 1 6.0E-03 0 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		1 0 1 6.2E-03 0 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		6 0 1 6.0E-03 0 0
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		2 0 1 6.1E-03 0 0
CUI: C0221199
Disease: Abnormal palmar creases
Abnormal palmar creases 		3 3 1 6.1E-03 1 4.1E-03
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function 		2 0 1 6.1E-03 0 0
CUI: C0231471
Disease: Abnormal posture
Abnormal posture 		7 0 2 1.2E-02 0 0