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: C4476858
Disease: 1-minute APGAR score of 1
1-minute APGAR score of 1
1 0 1 9.5E-03 0 0
CUI: C4749855
Disease: 14q11.2 microduplication syndrome
14q11.2 microduplication syndrome
1 0 1 9.5E-03 0 0
CUI: C4305240
Disease: 14q12 microdeletion syndrome
14q12 microdeletion syndrome
1 0 1 9.5E-03 0 0
CUI: C3697269
Disease: 15q24 Microdeletion
15q24 Microdeletion
5 0 1 9.2E-03 0 0
CUI: C4304594
Disease: 16q24.3 microdeletion syndrome
16q24.3 microdeletion syndrome
1 0 1 9.5E-03 0 0
CUI: C4304540
Disease: 1q44 microdeletion syndrome
1q44 microdeletion syndrome
1 0 1 9.5E-03 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
85 0 10 5.6E-02 0 0
CUI: C4021234
Disease: 2-4 toe syndactyly
2-4 toe syndactyly
2 0 1 9.4E-03 0 0
CUI: C4023736
Disease: 2-5 finger syndactyly
2-5 finger syndactyly
1 0 1 9.5E-03 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
31 0 2 1.5E-02 0 0
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome
12 0 1 8.6E-03 0 0
CUI: C4304531
Disease: 2q32q33 microdeletion syndrome
2q32q33 microdeletion syndrome
2 0 1 9.4E-03 0 0
CUI: C4706258
Disease: 2q33.1 microdeletion syndrome
2q33.1 microdeletion syndrome
1 0 1 9.5E-03 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2
30 0 2 1.5E-02 0 0
CUI: C0796137
Disease: 3C syndrome
3C syndrome
4 0 1 9.3E-03 0 0
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly
3 0 1 9.3E-03 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female
25 0 1 7.8E-03 0 0
CUI: C4476855
Disease: 5-minute APGAR score of 5
5-minute APGAR score of 5
1 0 1 9.5E-03 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome
45 0 1 6.7E-03 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
42 0 2 1.4E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
103 0 4 2.0E-02 0 0
CUI: C0000735
Disease: Abdominal Neoplasms
Abdominal Neoplasms
13 0 1 8.5E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
302 0 5 1.2E-02 0 0
CUI: C1879526
Disease: Aberrant Crypt Foci
Aberrant Crypt Foci
7 0 1 9.0E-03 0 0
CUI: C1969516
Disease: Aberrant melanosome maturation
Aberrant melanosome maturation
1 0 1 9.5E-03 0 0