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 5 3.6E-02 3 1.7E-02
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		6 6 1 7.5E-03 1 5.9E-03
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		9 11 2 1.5E-02 1 5.7E-03
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy 		3 0 1 7.7E-03 0 0
CUI: C4024963
Disease: Abnormal aggressive, impulsive or violent behavior
Abnormal aggressive, impulsive or violent behavior 		2 3 1 7.8E-03 1 6.0E-03
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 0 5 3.6E-02 0 0
CUI: C4476566
Disease: Abnormal brain choline level by MRS
Abnormal brain choline level by MRS 		1 1 1 7.8E-03 1 6.1E-03
CUI: C4025711
Disease: Abnormal caudate nucleus morphology
Abnormal caudate nucleus morphology 		1 1 1 7.8E-03 1 6.1E-03
CUI: C4021152
Disease: Abnormal CNS myelination
Abnormal CNS myelination 		3 4 2 1.6E-02 1 6.0E-03
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		4 5 1 7.6E-03 1 6.0E-03
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		3 4 2 1.6E-02 1 6.0E-03
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		3 4 1 7.7E-03 2 1.2E-02
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		12 10 3 2.2E-02 3 1.8E-02
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration 		4 12 1 7.6E-03 1 5.7E-03
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 8 5.3E-02 5 2.6E-02
CUI: C4025190
Disease: Abnormal epiglottis morphology
Abnormal epiglottis morphology 		1 0 1 7.8E-03 0 0
CUI: C4018849
Disease: Abnormal fear/anxiety-related behavior
Abnormal fear/anxiety-related behavior 		2 7 2 1.6E-02 5 3.0E-02
CUI: C1859481
Disease: Abnormal finger flexion creases
Abnormal finger flexion creases 		0 1 0 0 1 6.1E-03
CUI: C4022968
Disease: Abnormal hypothalamus physiology
Abnormal hypothalamus physiology 		1 1 1 7.8E-03 1 6.1E-03
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		2 0 1 7.8E-03 0 0
CUI: C2749688
Disease: Abnormal isoelectric focusing of serum transferrin
Abnormal isoelectric focusing of serum transferrin 		7 10 5 3.8E-02 6 3.6E-02
CUI: C4021810
Disease: Abnormal location of ears
Abnormal location of ears 		1 1 1 7.8E-03 1 6.1E-03
CUI: C4477036
Disease: Abnormal location of the eyebrow
Abnormal location of the eyebrow 		1 0 1 7.8E-03 0 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		6 0 1 7.5E-03 0 0
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		2 0 1 7.8E-03 0 0