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 1.4E-02 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3
12 0 1 3.2E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 0 3 3.2E-03 0 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
32 0 2 4.0E-02 0 0
CUI: C0232769
Disease: Abnormal gallbladder function
Abnormal gallbladder function
3 0 1 4.5E-02 0 0
CUI: C4025706
Disease: Abnormal globus pallidus morphology
Abnormal globus pallidus morphology
10 0 1 3.4E-02 0 0
CUI: C4025109
Disease: Abnormal hand morphology
Abnormal hand morphology
5 0 1 4.2E-02 0 0
Abnormal lower motor neuron morphology
23 0 2 4.9E-02 0 0
CUI: C0278061
Disease: Abnormal mental state
Abnormal mental state
24 0 2 4.8E-02 0 0
Abnormal mitochondria in muscle tissue
39 0 1 1.7E-02 0 0
CUI: C4014650
Disease: Abnormal mitochondrial morphology
Abnormal mitochondrial morphology
13 0 1 3.1E-02 0 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility
45 0 2 3.2E-02 0 0
CUI: C0234649
Disease: Abnormal saccadic eye movement
Abnormal saccadic eye movement
17 0 2 5.7E-02 0 0
CUI: C4021026
Disease: Abnormal tendon morphology
Abnormal tendon morphology
1 0 1 5.0E-02 0 0
Abnormal upper motor neuron morphology
20 0 2 5.3E-02 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
104 0 3 2.5E-02 0 0
Abnormality of cardiovascular system morphology
198 0 1 4.6E-03 0 0
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation
59 0 1 1.3E-02 0 0
CUI: C4023583
Disease: Abnormality of iron homeostasis
Abnormality of iron homeostasis
5 0 1 4.2E-02 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
215 0 1 4.3E-03 0 0
CUI: C4023528
Disease: Abnormality of skin morphology
Abnormality of skin morphology
16 0 1 2.9E-02 0 0
CUI: C4024167
Disease: Abnormality of the antitragus
Abnormality of the antitragus
7 0 1 3.8E-02 0 0
CUI: C0149632
Disease: Abnormality of the bladder
Abnormality of the bladder
9 0 1 3.6E-02 0 0
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum
55 0 3 4.2E-02 0 0
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
56 0 1 1.3E-02 0 0