Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME
1 0 1 2.2E-03 0 0
3-METHYLGLUTACONIC ACIDURIA, TYPE VIII
1 0 1 2.2E-03 0 0
CUI: C3151952
Disease: 3-Methylglutaric aciduria
3-Methylglutaric aciduria
3 0 2 4.4E-03 0 0
CUI: C1848680
Disease: 4-hydroxyphenylacetic aciduria
4-hydroxyphenylacetic aciduria
1 0 1 2.2E-03 0 0
CUI: C1848678
Disease: 4-Hydroxyphenylpyruvic aciduria
4-Hydroxyphenylpyruvic aciduria
2 0 1 2.2E-03 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome
45 0 3 6.1E-03 0 0
6-pyruvoyl-tetrahydropterin synthase deficiency
5 0 3 6.6E-03 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis
38 0 1 2.0E-03 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
42 0 1 2.0E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
103 6 8 1.5E-02 1 9.8E-03
CUI: C1291077
Disease: Abdominal bloating
Abdominal bloating
10 0 1 2.2E-03 0 0
CUI: C1142214
Disease: Abdominal cocoon
Abdominal cocoon
1 0 1 2.2E-03 0 0
CUI: C1563730
Disease: Abdominal Cryptorchidism
Abdominal Cryptorchidism
8 0 1 2.2E-03 0 0
CUI: C1112209
Disease: Abdominal Infection
Abdominal Infection
23 0 1 2.1E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
302 0 32 4.4E-02 0 0
CUI: C4021527
Disease: Abdominal wall muscle weakness
Abdominal wall muscle weakness
9 0 1 2.2E-03 0 0
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy
8 0 1 2.2E-03 0 0
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
65 0 5 9.7E-03 0 0
CUI: C0266574
Disease: Ablepharon
Ablepharon
20 0 2 4.2E-03 0 0
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
41 0 1 2.0E-03 0 0
CUI: C4021524
Disease: Abnormal adipose tissue morphology
Abnormal adipose tissue morphology
6 0 1 2.2E-03 0 0
CUI: C4022916
Disease: Abnormal aldolase level
Abnormal aldolase level
16 0 1 2.1E-03 0 0
CUI: C4703464
Disease: Abnormal aortic valve physiology
Abnormal aortic valve physiology
4 0 3 6.6E-03 0 0
Abnormal atrioventricular conduction
7 0 3 6.6E-03 0 0
CUI: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential
11 0 2 4.3E-03 0 0