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: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
85 0 2 1.7E-02 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
55 0 1 1.2E-02 0 0
CUI: C0265404
Disease: 4q partial monosomy syndrome
4q partial monosomy syndrome
1 0 1 3.1E-02 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome
45 0 1 1.3E-02 0 0
CUI: C3711390
Disease: 9q22.3 Microdeletion
9q22.3 Microdeletion
1 0 1 3.1E-02 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
42 0 1 1.4E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
302 0 9 2.8E-02 0 0
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy
8 0 1 2.6E-02 0 0
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
41 0 1 1.4E-02 0 0
CUI: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology
29 0 1 1.7E-02 0 0
Abnormal atrioventricular conduction
7 0 1 2.6E-02 0 0
CUI: C4021748
Disease: Abnormal B cell morphology
Abnormal B cell morphology
1 0 1 3.1E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 0 6 6.4E-03 0 0
CUI: C0231557
Disease: Abnormal bone formation
Abnormal bone formation
12 0 1 2.3E-02 0 0
Abnormal brain FDG positron emission tomography
18 0 1 2.0E-02 0 0
CUI: C4025211
Disease: Abnormal carotid artery morphology
Abnormal carotid artery morphology
32 0 9 0.16 0 0
CUI: C4476793
Disease: Abnormal cell morphology
Abnormal cell morphology
12 0 1 2.3E-02 0 0
CUI: C4476724
Disease: Abnormal cellular phenotype
Abnormal cellular phenotype
4 0 1 2.9E-02 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination
59 0 3 3.4E-02 0 0
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology
41 0 1 1.4E-02 0 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
32 37 1 1.6E-02 1 2.5E-02
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern
44 0 11 0.17 0 0
Abnormal Descemet membrane morphology
2 0 1 3.0E-02 0 0
Abnormal electrophysiology of sinoatrial node origin
1 0 1 3.1E-02 0 0
CUI: C4025628
Disease: Abnormal enchondral ossification
Abnormal enchondral ossification
4 0 1 2.9E-02 0 0