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 5 2.2E-02 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
55 0 1 5.1E-03 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome
15 0 1 6.4E-03 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria
20 0 1 6.2E-03 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2
30 0 2 1.2E-02 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3
12 0 2 1.3E-02 0 0
CUI: C1855126
Disease: 3-Methylglutaconic Aciduria Type IV
3-Methylglutaconic Aciduria Type IV
4 0 1 6.8E-03 0 0
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome
4 0 1 6.8E-03 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female
25 0 1 6.0E-03 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis
11 0 1 6.5E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
302 0 2 4.5E-03 0 0
CUI: C0740651
Disease: Abdominal symptom
Abdominal symptom
17 0 1 6.3E-03 0 0
CUI: C0266574
Disease: Ablepharon
Ablepharon
20 0 1 6.2E-03 0 0
CUI: C4022916
Disease: Abnormal aldolase level
Abnormal aldolase level
16 0 1 6.3E-03 0 0
CUI: C0266781
Disease: Abnormal amniotic fluid
Abnormal amniotic fluid
8 0 1 6.7E-03 0 0
CUI: C4476649
Disease: Abnormal apolipoprotein level
Abnormal apolipoprotein level
3 0 1 6.9E-03 0 0
Abnormal atrioventricular conduction
7 0 1 6.7E-03 0 0
CUI: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential
11 2 1 6.5E-03 1 6.7E-02
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 121 32 3.1E-02 1 7.5E-03
Abnormal brain FDG positron emission tomography
18 0 1 6.3E-03 0 0
Abnormal brainstem MRI signal intensity
5 0 1 6.8E-03 0 0
CUI: C4025211
Disease: Abnormal carotid artery morphology
Abnormal carotid artery morphology
32 0 1 5.7E-03 0 0
CUI: C4476793
Disease: Abnormal cell morphology
Abnormal cell morphology
12 0 1 6.5E-03 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology
36 0 1 5.6E-03 0 0
CUI: C4021152
Disease: Abnormal CNS myelination
Abnormal CNS myelination
9 0 1 6.6E-03 0 0