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: C0268615
Disease: 5,10-Methylenetetrahydrofolate reductase deficiency
5,10-Methylenetetrahydrofolate reductase deficiency 		6 6 1 3.0E-02 1 6.2E-02
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 1 1.4E-02 0 0
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		5 0 1 3.1E-02 0 0
CUI: C1838099
Disease: ABCD syndrome
ABCD syndrome 		1 0 1 3.6E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 1 7.7E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 4 1.2E-02 0 0
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		65 0 1 1.1E-02 0 0
CUI: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology 		29 0 2 3.6E-02 0 0
CUI: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential 		11 0 1 2.6E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 121 7 7.5E-03 1 7.6E-03
CUI: C4025211
Disease: Abnormal carotid artery morphology
Abnormal carotid artery morphology 		32 0 2 3.4E-02 0 0
CUI: C4025836
Disease: Abnormal choroid morphology
Abnormal choroid morphology 		12 0 1 2.6E-02 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		59 0 1 1.2E-02 0 0
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern 		44 0 1 1.4E-02 0 0
CUI: C4025849
Disease: Abnormal foveal morphology
Abnormal foveal morphology 		5 0 1 3.1E-02 0 0
CUI: C4023721
Disease: Abnormal hair pattern
Abnormal hair pattern 		15 0 1 2.4E-02 0 0
CUI: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity 		29 0 1 1.8E-02 0 0
CUI: C1858567
Disease: Abnormal lacrimal duct morphology
Abnormal lacrimal duct morphology 		4 0 1 3.2E-02 0 0
CUI: C4020968
Disease: Abnormal localization of kidney
Abnormal localization of kidney 		40 0 2 3.0E-02 0 0
CUI: C4520679
Disease: Abnormal macular morphology
Abnormal macular morphology 		30 0 1 1.8E-02 0 0
CUI: C0278061
Disease: Abnormal mental state
Abnormal mental state 		24 0 1 2.0E-02 0 0
CUI: C4025252
Disease: Abnormal nasal morphology
Abnormal nasal morphology 		34 0 3 5.1E-02 0 0
CUI: C4025835
Disease: Abnormal nasolacrimal system morphology
Abnormal nasolacrimal system morphology 		23 0 1 2.0E-02 0 0
CUI: C4023573
Disease: Abnormal number of permanent teeth
Abnormal number of permanent teeth 		9 0 6 0.19 0 0
CUI: C1837388
Disease: Abnormal pattern of respiration
Abnormal pattern of respiration 		20 0 3 6.7E-02 0 0