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: C3277849
Disease: 17,20-Lyase Deficiency, Isolated
17,20-Lyase Deficiency, Isolated
1 0 1 1.9E-03 0 0
CUI: C4304578
Disease: 1p21.3 microdeletion syndrome
1p21.3 microdeletion syndrome
1 0 1 1.9E-03 0 0
CUI: C3665382
Disease: 2,8-Dihydroxyadenine Urolithiasis
2,8-Dihydroxyadenine Urolithiasis
1 0 1 1.9E-03 0 0
2-oxo-hept-3-ene-1,7-dioate hydratase activity
14 0 2 3.7E-03 0 0
CUI: C4304539
Disease: 20p12.3 microdeletion syndrome
20p12.3 microdeletion syndrome
1 0 1 1.9E-03 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
10 0 1 1.9E-03 0 0
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome
9 0 1 1.9E-03 0 0
3-Phosphoglycerate dehydrogenase deficiency
1 0 1 1.9E-03 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis
11 0 3 5.6E-03 0 0
CUI: C3151064
Disease: 46,XY SEX REVERSAL 6
46,XY SEX REVERSAL 6
1 0 1 1.9E-03 0 0
CUI: C1838099
Disease: ABCD syndrome
ABCD syndrome
1 0 1 1.9E-03 0 0
CUI: C1563730
Disease: Abdominal Cryptorchidism
Abdominal Cryptorchidism
8 0 1 1.9E-03 0 0
CUI: C0270858
Disease: Abdominal Migraine
Abdominal Migraine
9 0 2 3.7E-03 0 0
CUI: C1879526
Disease: Aberrant Crypt Foci
Aberrant Crypt Foci
3 0 1 1.9E-03 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
16 0 1 1.8E-03 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination
16 0 1 1.8E-03 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology
6 0 1 1.9E-03 0 0
CUI: C0000771
Disease: Abnormalities, Drug-Induced
Abnormalities, Drug-Induced
5 0 1 1.9E-03 0 0
Abnormality of nervous system morphology
10 0 1 1.9E-03 0 0
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
33 0 6 1.1E-02 0 0
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
7 0 2 3.8E-03 0 0
CUI: C0744356
Disease: Abnormality of the genital system
Abnormality of the genital system
3 0 1 1.9E-03 0 0
CUI: C4024297
Disease: Abnormality of the hairline
Abnormality of the hairline
0 1 0 0 1 3.2E-03
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system
8 0 1 1.9E-03 0 0
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue
0 2 0 0 1 3.2E-03