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: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
20 0 1 1.4E-02 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
85 0 2 1.4E-02 0 0
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria
8 0 1 1.6E-02 0 0
2-succinyl-5-enolpyruvyl-6-hydroxy-3-cyclohexene-1-carboxylic-acid synthase activity
1 0 1 1.8E-02 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
42 0 1 1.0E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
103 0 7 4.6E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
302 0 9 2.6E-02 0 0
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
65 0 1 8.4E-03 0 0
CUI: C0266574
Disease: Ablepharon
Ablepharon
20 0 1 1.4E-02 0 0
CUI: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential
11 0 1 1.5E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 0 8 8.4E-03 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin
75 0 1 7.8E-03 0 0
CUI: C4025630
Disease: Abnormal bone structure
Abnormal bone structure
7 0 1 1.6E-02 0 0
Abnormal brain FDG positron emission tomography
18 0 1 1.4E-02 0 0
CUI: C4025211
Disease: Abnormal carotid artery morphology
Abnormal carotid artery morphology
32 0 8 0.10 0 0
CUI: C4021847
Disease: Abnormal cartilage collagen
Abnormal cartilage collagen
1 0 1 1.8E-02 0 0
CUI: C3151523
Disease: Abnormal cervical curvature
Abnormal cervical curvature
4 0 1 1.7E-02 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology
36 0 1 1.1E-02 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination
59 0 1 8.8E-03 0 0
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology
41 0 3 3.2E-02 0 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
32 37 1 1.2E-02 2 5.0E-02
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern
44 0 9 1.0E-01 0 0
CUI: C4021787
Disease: Abnormal diaphysis morphology
Abnormal diaphysis morphology
11 0 1 1.5E-02 0 0
CUI: C4025628
Disease: Abnormal enchondral ossification
Abnormal enchondral ossification
4 0 2 3.5E-02 0 0
CUI: C4021662
Disease: Abnormal endocardium morphology
Abnormal endocardium morphology
23 0 8 0.11 0 0