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: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
55 0 1 8.9E-03 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development
6 0 1 1.6E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
103 0 1 6.3E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
302 0 2 5.6E-03 0 0
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
41 0 1 1.0E-02 0 0
CUI: C4022863
Disease: Abnormal alpha granule content
Abnormal alpha granule content
1 0 1 1.7E-02 0 0
CUI: C0855997
Disease: Abnormal basophil morphology
Abnormal basophil morphology
3 0 1 1.7E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 0 1 1.0E-03 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology
70 0 1 7.9E-03 0 0
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration
17 0 1 1.4E-02 0 0
CUI: C4021839
Disease: Abnormal dense granule content
Abnormal dense granule content
1 0 1 1.7E-02 0 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination
49 0 1 9.4E-03 0 0
CUI: C0151746
Disease: Abnormal renal function
Abnormal renal function
12 0 1 1.4E-02 0 0
CUI: C4551596
Disease: Abnormal renal morphology
Abnormal renal morphology
35 0 1 1.1E-02 0 0
CUI: C4021087
Disease: Abnormal social behavior
Abnormal social behavior
19 0 1 1.3E-02 0 0
Abnormality of chorioretinal pigmentation
1 0 1 1.7E-02 0 0
CUI: C4025843
Disease: Abnormality of refraction
Abnormality of refraction
28 0 1 1.2E-02 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
215 0 1 3.7E-03 0 0
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition
140 0 1 5.1E-03 0 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision
127 0 1 5.4E-03 0 0
CUI: C0000822
Disease: Abortion, Tubal
Abortion, Tubal
109 0 1 6.0E-03 0 0
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
205 0 1 3.8E-03 0 0
CUI: C0271004
Disease: Absent anterior chamber of eye
Absent anterior chamber of eye
2 0 1 1.7E-02 0 0
CUI: C0234146
Disease: Absent reflex
Absent reflex
201 0 1 3.9E-03 0 0
CUI: C1854882
Disease: Absent speech
Absent speech
232 0 1 3.5E-03 0 0