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 1 8.9E-03 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
55 0 1 1.2E-02 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2
30 0 1 1.8E-02 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3
12 0 2 5.3E-02 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
42 0 1 1.4E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 0 5 5.4E-03 0 0
Abnormal best corrected visual acuity test
2 0 1 3.4E-02 0 0
CUI: C4023607
Disease: Abnormal corpus striatum morphology
Abnormal corpus striatum morphology
5 0 1 3.1E-02 0 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
32 37 1 1.7E-02 1 2.6E-02
CUI: C4021803
Disease: Abnormal eyelid morphology
Abnormal eyelid morphology
10 0 1 2.7E-02 0 0
CUI: C0232769
Disease: Abnormal gallbladder function
Abnormal gallbladder function
3 0 1 3.3E-02 0 0
CUI: C0278061
Disease: Abnormal mental state
Abnormal mental state
24 0 1 2.0E-02 0 0
Abnormal mitochondria in muscle tissue
39 0 1 1.5E-02 0 0
CUI: C4014650
Disease: Abnormal mitochondrial morphology
Abnormal mitochondrial morphology
13 0 1 2.5E-02 0 0
CUI: C4022687
Disease: Abnormal motor evoked potentials
Abnormal motor evoked potentials
4 0 1 3.2E-02 0 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility
45 0 2 2.8E-02 0 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation
58 0 1 1.2E-02 0 0
CUI: C0234649
Disease: Abnormal saccadic eye movement
Abnormal saccadic eye movement
17 0 3 7.1E-02 0 0
CUI: C4021087
Disease: Abnormal social behavior
Abnormal social behavior
19 0 1 2.2E-02 0 0
CUI: C4021026
Disease: Abnormal tendon morphology
Abnormal tendon morphology
1 0 1 3.6E-02 0 0
Abnormal upper motor neuron morphology
20 0 2 4.3E-02 0 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision
115 0 1 7.0E-03 0 0
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential
55 0 2 2.5E-02 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
104 0 1 7.6E-03 0 0
Abnormality of cardiovascular system morphology
198 0 1 4.4E-03 0 0