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: C4023728
Disease: 1-5 finger syndactyly
1-5 finger syndactyly
3 0 1 1.7E-02 0 0
2-oxo-hept-3-ene-1,7-dioate hydratase activity
14 0 1 1.4E-02 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
55 0 1 9.0E-03 0 0
CUI: C4304537
Disease: 2p21 microdeletion syndrome
2p21 microdeletion syndrome
4 0 1 1.7E-02 0 0
2p21 microdeletion syndrome without cystinuria
2 0 1 1.7E-02 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2
30 0 1 1.2E-02 0 0
CUI: C0265404
Disease: 4q partial monosomy syndrome
4q partial monosomy syndrome
1 0 1 1.8E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 0 10 1.0E-02 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin
75 0 1 7.6E-03 0 0
CUI: C0159060
Disease: Abnormal bowel sounds
Abnormal bowel sounds
5 0 1 1.6E-02 0 0
Abnormal brain FDG positron emission tomography
18 0 1 1.4E-02 0 0
CUI: C3151523
Disease: Abnormal cervical curvature
Abnormal cervical curvature
4 0 3 5.2E-02 0 0
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology
41 0 1 1.0E-02 0 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
32 0 1 1.1E-02 0 0
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern
44 0 1 1.0E-02 0 0
CUI: C4022922
Disease: Abnormal enzyme/coenzyme activity
Abnormal enzyme/coenzyme activity
13 0 3 4.5E-02 0 0
CUI: C4021803
Disease: Abnormal eyelid morphology
Abnormal eyelid morphology
10 0 1 1.5E-02 0 0
Abnormal form of the vertebral bodies
89 0 1 6.9E-03 0 0
CUI: C0240083
Disease: Abnormal joint morphology
Abnormal joint morphology
6 0 1 1.6E-02 0 0
Abnormal lower motor neuron morphology
23 0 1 1.3E-02 0 0
CUI: C4014650
Disease: Abnormal mitochondrial morphology
Abnormal mitochondrial morphology
13 0 1 1.4E-02 0 0
CUI: C1866772
Disease: Abnormal nerve conduction velocity
Abnormal nerve conduction velocity
5 0 1 1.6E-02 0 0
CUI: C4025887
Disease: Abnormal oral cavity morphology
Abnormal oral cavity morphology
12 0 1 1.5E-02 0 0
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology
40 0 1 1.0E-02 0 0
CUI: C4025810
Disease: Abnormal palmar dermatoglyphics
Abnormal palmar dermatoglyphics
5 0 1 1.6E-02 0 0