Source: ALL
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: C4025774
Disease: 1-3 toe syndactyly
1-3 toe syndactyly 		1 0 1 7.5E-03 0 0
CUI: C4021235
Disease: 1-5 toe syndactyly
1-5 toe syndactyly 		1 0 1 7.5E-03 0 0
CUI: C4476858
Disease: 1-minute APGAR score of 1
1-minute APGAR score of 1 		1 0 1 7.5E-03 0 0
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		20 0 2 1.3E-02 0 0
CUI: C4304594
Disease: 16q24.3 microdeletion syndrome
16q24.3 microdeletion syndrome 		1 0 1 7.5E-03 0 0
CUI: C4304540
Disease: 1q44 microdeletion syndrome
1q44 microdeletion syndrome 		1 0 1 7.5E-03 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 16 7 3.3E-02 1 3.4E-02
CUI: C4021622
Disease: 2-4 toe cutaneous syndactyly
2-4 toe cutaneous syndactyly 		1 0 1 7.5E-03 0 0
CUI: C2610861
Disease: 2-succinyl-5-enolpyruvyl-6-hydroxy-3-cyclohexene-1-carboxylic-acid synthase activity
2-succinyl-5-enolpyruvyl-6-hydroxy-3-cyclohexene-1-carboxylic-acid synthase activity 		1 0 1 7.5E-03 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		31 0 9 5.8E-02 0 0
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		12 0 9 6.6E-02 0 0
CUI: C4023115
Disease: 3-4 finger cutaneous syndactyly
3-4 finger cutaneous syndactyly 		3 0 2 1.5E-02 0 0
CUI: C1856889
Disease: 3-4 finger syndactyly
3-4 finger syndactyly 		4 0 1 7.3E-03 0 0
CUI: C1834062
Disease: 3-4 toe syndactyly
3-4 toe syndactyly 		4 0 1 7.3E-03 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		30 0 1 6.1E-03 0 0
CUI: C0796137
Disease: 3C syndrome
3C syndrome 		4 0 1 7.3E-03 0 0
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly 		3 0 2 1.5E-02 0 0
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		11 0 2 1.4E-02 0 0
CUI: C4479552
Disease: 46,XX SEX REVERSAL 4
46,XX SEX REVERSAL 4 		3 0 1 7.4E-03 0 0
CUI: C4476855
Disease: 5-minute APGAR score of 5
5-minute APGAR score of 5 		1 0 1 7.5E-03 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 1 5.6E-03 0 0
CUI: C3711390
Disease: 9q22.3 Microdeletion
9q22.3 Microdeletion 		1 0 1 7.5E-03 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 4 2.3E-02 0 0
CUI: C1838099
Disease: ABCD syndrome
ABCD syndrome 		1 0 1 7.5E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 3 1.3E-02 0 0