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 0 8 2.3E-02 0 0
CUI: C1834062
Disease: 3-4 toe syndactyly
3-4 toe syndactyly 		1 0 1 3.0E-03 0 0
CUI: C0342727
Disease: 3-@METHYLGLUTACONIC ACIDURIA, TYPE I
3-@METHYLGLUTACONIC ACIDURIA, TYPE I 		1 0 1 3.0E-03 0 0
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly 		2 0 2 6.0E-03 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		2 12 1 3.0E-03 1 1.6E-03
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		6 0 2 5.9E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		9 0 3 8.8E-03 0 0
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy 		3 0 1 3.0E-03 0 0
CUI: C4024963
Disease: Abnormal aggressive, impulsive or violent behavior
Abnormal aggressive, impulsive or violent behavior 		2 0 2 6.0E-03 0 0
CUI: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology 		1 0 1 3.0E-03 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 0 6 1.7E-02 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		4 0 1 3.0E-03 0 0
CUI: C4476566
Disease: Abnormal brain choline level by MRS
Abnormal brain choline level by MRS 		1 0 1 3.0E-03 0 0
CUI: C4476564
Disease: Abnormal brain lactate level by MRS
Abnormal brain lactate level by MRS 		1 0 1 3.0E-03 0 0
CUI: C1260922
Disease: Abnormal breathing
Abnormal breathing 		2 2 1 3.0E-03 1 1.6E-03
CUI: C4025711
Disease: Abnormal caudate nucleus morphology
Abnormal caudate nucleus morphology 		1 0 1 3.0E-03 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		1 0 1 3.0E-03 0 0
CUI: C4021152
Disease: Abnormal CNS myelination
Abnormal CNS myelination 		3 0 1 3.0E-03 0 0
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		4 0 1 3.0E-03 0 0
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		3 4 2 6.0E-03 2 3.3E-03
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		12 0 6 1.8E-02 0 0
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration 		4 0 1 3.0E-03 0 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 10 2.8E-02 1 1.5E-03
CUI: C4023330
Disease: Abnormal Descemet membrane morphology
Abnormal Descemet membrane morphology 		1 0 1 3.0E-03 0 0
CUI: C4025190
Disease: Abnormal epiglottis morphology
Abnormal epiglottis morphology 		1 0 1 3.0E-03 0 0