Source: ALL
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: C2047886
Disease: (Idiopathic) normal pressure hydrocephalus
(Idiopathic) normal pressure hydrocephalus 		14 0 1 2.9E-02 0 0
CUI: C4749855
Disease: 14q11.2 microduplication syndrome
14q11.2 microduplication syndrome 		1 0 1 4.5E-02 0 0
CUI: C4305240
Disease: 14q12 microdeletion syndrome
14q12 microdeletion syndrome 		1 0 1 4.5E-02 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 16 2 1.9E-02 1 2.4E-02
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		8 0 1 3.4E-02 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		20 0 1 2.4E-02 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		30 0 1 2.0E-02 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		12 0 1 3.0E-02 0 0
CUI: C3711390
Disease: 9q22.3 Microdeletion
9q22.3 Microdeletion 		1 0 1 4.5E-02 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 2 3.2E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 18 1 3.1E-03 1 2.3E-02
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy 		8 0 1 3.4E-02 0 0
CUI: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential 		11 0 1 3.1E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 121 4 4.3E-03 1 6.8E-03
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		75 10 2 2.1E-02 3 8.8E-02
CUI: C4476793
Disease: Abnormal cell morphology
Abnormal cell morphology 		12 0 1 3.0E-02 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		36 0 1 1.8E-02 0 0
CUI: C4021152
Disease: Abnormal CNS myelination
Abnormal CNS myelination 		9 4 1 3.3E-02 1 3.3E-02
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		7 0 1 3.6E-02 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		59 0 1 1.3E-02 0 0
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		9 4 1 3.3E-02 2 6.9E-02
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 10 1 1.1E-02 1 2.8E-02
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 0 1 1.9E-02 0 0
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern 		44 0 2 3.1E-02 0 0
CUI: C4023330
Disease: Abnormal Descemet membrane morphology
Abnormal Descemet membrane morphology 		2 1 1 4.3E-02 1 3.7E-02