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: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
20 0 1 7.2E-03 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
85 0 1 4.9E-03 0 0
CUI: C4304539
Disease: 20p12.3 microdeletion syndrome
20p12.3 microdeletion syndrome
1 0 1 8.4E-03 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome
15 0 1 7.5E-03 0 0
3 beta-Hydroxysteroid dehydrogenase deficiency
9 0 1 7.9E-03 0 0
6-pyruvoyl-tetrahydropterin synthase deficiency
5 0 1 8.1E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
103 0 2 9.1E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
302 0 3 7.2E-03 0 0
CUI: C0266574
Disease: Ablepharon
Ablepharon
20 0 1 7.2E-03 0 0
CUI: C4022916
Disease: Abnormal aldolase level
Abnormal aldolase level
16 0 1 7.5E-03 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 0 7 6.8E-03 0 0
CUI: C0231557
Disease: Abnormal bone formation
Abnormal bone formation
12 0 1 7.7E-03 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology
36 0 1 6.5E-03 0 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
32 0 1 6.7E-03 0 0
CUI: C4020949
Disease: Abnormal emotion/affect behavior
Abnormal emotion/affect behavior
3 0 1 8.3E-03 0 0
CUI: C4022922
Disease: Abnormal enzyme/coenzyme activity
Abnormal enzyme/coenzyme activity
13 0 1 7.6E-03 0 0
CUI: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology
29 0 1 6.8E-03 0 0
CUI: C2675111
Disease: Abnormal eyelash morphology
Abnormal eyelash morphology
39 0 1 6.4E-03 0 0
Abnormal form of the vertebral bodies
89 0 2 9.7E-03 0 0
CUI: C0349705
Disease: Abnormal hemoglobin finding
Abnormal hemoglobin finding
9 0 1 7.9E-03 0 0
Abnormal lactate dehydrogenase activity
19 0 1 7.3E-03 0 0
CUI: C0278061
Disease: Abnormal mental state
Abnormal mental state
24 0 1 7.0E-03 0 0
Abnormal nasolacrimal system morphology
23 0 1 7.1E-03 0 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility
45 0 1 6.1E-03 0 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation
58 0 1 5.7E-03 0 0