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 2.9E-02 5 1.2E-02
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		1 0 1 4.2E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		6 6 4 1.7E-02 4 9.5E-03
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		9 11 3 1.2E-02 3 7.1E-03
CUI: C4024963
Disease: Abnormal aggressive, impulsive or violent behavior
Abnormal aggressive, impulsive or violent behavior 		2 0 1 4.2E-03 0 0
CUI: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential 		1 2 1 4.2E-03 1 2.4E-03
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 19 11 4.5E-02 6 1.4E-02
CUI: C4476566
Disease: Abnormal brain choline level by MRS
Abnormal brain choline level by MRS 		1 0 1 4.2E-03 0 0
CUI: C4025711
Disease: Abnormal caudate nucleus morphology
Abnormal caudate nucleus morphology 		1 0 1 4.2E-03 0 0
CUI: C4021152
Disease: Abnormal CNS myelination
Abnormal CNS myelination 		3 4 2 8.4E-03 1 2.4E-03
CUI: C0234629
Disease: Abnormal color vision
Abnormal color vision 		5 5 1 4.1E-03 1 2.4E-03
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		3 0 2 8.4E-03 0 0
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		3 4 2 8.4E-03 3 7.2E-03
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		12 10 5 2.0E-02 2 4.7E-03
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration 		4 12 2 8.4E-03 1 2.3E-03
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 16 6.3E-02 13 2.9E-02
CUI: C4020949
Disease: Abnormal emotion/affect behavior
Abnormal emotion/affect behavior 		3 13 3 1.3E-02 5 1.2E-02
CUI: C4025190
Disease: Abnormal epiglottis morphology
Abnormal epiglottis morphology 		1 0 1 4.2E-03 0 0
CUI: C4721383
Disease: Abnormal esophagus morphology
Abnormal esophagus morphology 		1 1 1 4.2E-03 1 2.4E-03
CUI: C4018849
Disease: Abnormal fear/anxiety-related behavior
Abnormal fear/anxiety-related behavior 		2 7 1 4.2E-03 1 2.4E-03
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology 		1 0 1 4.2E-03 0 0
CUI: C4021095
Disease: Abnormal hypothalamus morphology
Abnormal hypothalamus morphology 		1 1 1 4.2E-03 1 2.4E-03
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		2 0 2 8.4E-03 0 0
CUI: C2749688
Disease: Abnormal isoelectric focusing of serum transferrin
Abnormal isoelectric focusing of serum transferrin 		7 10 2 8.3E-03 3 7.1E-03
CUI: C4023359
Disease: Abnormal maternal serum screening
Abnormal maternal serum screening 		1 0 1 4.2E-03 0 0