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: C4476857
Disease: 1-minute APGAR score of 0
1-minute APGAR score of 0 		1 0 1 9.4E-03 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 1 5.3E-03 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		20 0 2 1.6E-02 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		12 0 2 1.7E-02 0 0
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		11 0 1 8.6E-03 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 2 1.6E-02 0 0
CUI: C4479552
Disease: 46,XX SEX REVERSAL 4
46,XX SEX REVERSAL 4 		3 0 1 9.3E-03 0 0
CUI: C4476851
Disease: 5-minute APGAR score of 1
5-minute APGAR score of 1 		1 0 1 9.4E-03 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 2 1.3E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 2 9.7E-03 0 0
CUI: C0000734
Disease: Abdominal mass
Abdominal mass 		2 0 1 9.3E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 8 2.0E-02 0 0
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy 		8 0 1 8.8E-03 0 0
CUI: C4025244
Disease: Abnormal atrioventricular conduction
Abnormal atrioventricular conduction 		7 0 5 4.6E-02 0 0
CUI: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential 		11 0 2 1.7E-02 0 0
CUI: C4476997
Disease: Abnormal B-type natriuretic peptide level
Abnormal B-type natriuretic peptide level 		1 0 1 9.4E-03 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 22 2.2E-02 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		75 0 1 5.6E-03 0 0
CUI: C0231557
Disease: Abnormal bone formation
Abnormal bone formation 		12 0 1 8.5E-03 0 0
CUI: C4022798
Disease: Abnormal brain FDG positron emission tomography
Abnormal brain FDG positron emission tomography 		18 0 1 8.1E-03 0 0
CUI: C4025211
Disease: Abnormal carotid artery morphology
Abnormal carotid artery morphology 		32 0 1 7.3E-03 0 0
CUI: C4025711
Disease: Abnormal caudate nucleus morphology
Abnormal caudate nucleus morphology 		9 0 1 8.8E-03 0 0
CUI: C4476793
Disease: Abnormal cell morphology
Abnormal cell morphology 		12 0 4 3.5E-02 0 0
CUI: C4476724
Disease: Abnormal cellular phenotype
Abnormal cellular phenotype 		4 0 1 9.2E-03 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		59 0 2 1.2E-02 0 0