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 2 1.1E-02 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
55 0 1 6.8E-03 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria
20 0 1 8.9E-03 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2
30 0 2 1.7E-02 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3
12 0 2 1.9E-02 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female
25 0 1 8.5E-03 0 0
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
1 0 1 1.1E-02 0 0
46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy
1 0 1 1.1E-02 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome
45 0 1 7.3E-03 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis
38 0 2 1.6E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
103 0 3 1.6E-02 0 0
CUI: C0000735
Disease: Abdominal Neoplasms
Abdominal Neoplasms
13 0 1 9.5E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
302 0 10 2.6E-02 0 0
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
65 0 2 1.3E-02 0 0
CUI: C0266781
Disease: Abnormal amniotic fluid
Abnormal amniotic fluid
8 0 2 2.0E-02 0 0
Abnormal amplitude of pattern reversal visual evoked potentials
1 0 1 1.1E-02 0 0
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 9.7E-03 0 0
Abnormal basal ganglia MRI signal intensity
7 0 1 1.0E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 0 14 1.4E-02 0 0
Abnormal brainstem MRI signal intensity
5 0 2 2.1E-02 0 0
CUI: C4476793
Disease: Abnormal cell morphology
Abnormal cell morphology
12 0 5 5.0E-02 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology
36 0 3 2.4E-02 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination
59 0 1 6.6E-03 0 0
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology
9 0 1 9.9E-03 0 0