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: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 1 5.6E-03 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 1 6.8E-03 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		15 0 1 9.3E-03 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		20 0 2 1.8E-02 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		12 0 4 3.9E-02 0 0
CUI: C1855126
Disease: 3-Methylglutaconic Aciduria Type IV
3-Methylglutaconic Aciduria Type IV 		4 0 1 1.0E-02 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 1 8.5E-03 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 1 7.2E-03 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		38 0 1 7.6E-03 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 1 7.4E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 4 2.1E-02 0 0
CUI: C0000734
Disease: Abdominal mass
Abdominal mass 		2 0 1 1.1E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 8 2.1E-02 0 0
CUI: C1141926
Disease: Abdominal sepsis
Abdominal sepsis 		18 0 1 9.0E-03 0 0
CUI: C0740651
Disease: Abdominal symptom
Abdominal symptom 		17 0 1 9.1E-03 0 0
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy 		8 0 1 9.9E-03 0 0
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		65 0 1 6.3E-03 0 0
CUI: C0266781
Disease: Abnormal amniotic fluid
Abnormal amniotic fluid 		8 0 2 2.0E-02 0 0
CUI: C4025834
Disease: Abnormal amplitude of pattern reversal visual evoked potentials
Abnormal amplitude of pattern reversal visual evoked potentials 		1 0 1 1.1E-02 0 0
CUI: C4025244
Disease: Abnormal atrioventricular conduction
Abnormal atrioventricular conduction 		7 0 2 2.0E-02 0 0
CUI: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential 		11 0 1 9.6E-03 0 0
CUI: C4022745
Disease: Abnormal basal ganglia MRI signal intensity
Abnormal basal ganglia MRI signal intensity 		7 0 2 2.0E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 15 1.5E-02 0 0
CUI: C4073008
Disease: Abnormal best corrected visual acuity test
Abnormal best corrected visual acuity test 		2 0 1 1.1E-02 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		75 0 1 6.0E-03 0 0