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 3 1.2E-02 0 0
CUI: C4225393
Disease: 3-methylglutaconic aciduria type 7
3-methylglutaconic aciduria type 7 		1 0 1 4.2E-03 0 0
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly 		2 0 2 8.4E-03 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		2 12 1 4.2E-03 1 2.8E-03
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2 		2 0 2 8.4E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		6 0 1 4.1E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		9 0 1 4.1E-03 0 0
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy 		3 0 1 4.2E-03 0 0
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME 		1 1 1 4.2E-03 1 2.9E-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: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology 		1 0 1 4.2E-03 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 0 4 1.6E-02 0 0
CUI: C4476566
Disease: Abnormal brain choline level by MRS
Abnormal brain choline level by MRS 		1 0 1 4.2E-03 0 0
CUI: C4476564
Disease: Abnormal brain lactate level by MRS
Abnormal brain lactate 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: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		1 0 1 4.2E-03 0 0
CUI: C4021152
Disease: Abnormal CNS myelination
Abnormal CNS myelination 		3 0 1 4.2E-03 0 0
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		4 0 1 4.2E-03 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		3 0 1 4.2E-03 0 0
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		3 0 1 4.2E-03 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		12 0 4 1.6E-02 0 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 0 11 4.3E-02 0 0
CUI: C4025190
Disease: Abnormal epiglottis morphology
Abnormal epiglottis morphology 		1 0 1 4.2E-03 0 0
CUI: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology 		1 0 1 4.2E-03 0 0
CUI: C4021803
Disease: Abnormal eyelid morphology
Abnormal eyelid morphology 		3 0 3 1.3E-02 0 0