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 1.2E-02 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3
12 0 2 4.8E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
302 0 1 3.0E-03 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
910 0 3 3.2E-03 0 0
Abnormal brain FDG positron emission tomography
18 0 1 2.0E-02 0 0
CUI: C4025858
Disease: Abnormal cochlea morphology
Abnormal cochlea morphology
16 0 2 4.3E-02 0 0
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement
7 5 1 2.6E-02 1 0.11
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination
59 0 1 1.1E-02 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology
70 0 1 9.9E-03 0 0
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology
41 0 1 1.4E-02 0 0
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration
17 0 1 2.1E-02 0 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
32 37 2 3.2E-02 1 2.4E-02
CUI: C4022922
Disease: Abnormal enzyme/coenzyme activity
Abnormal enzyme/coenzyme activity
13 0 1 2.3E-02 0 0
CUI: C4025109
Disease: Abnormal hand morphology
Abnormal hand morphology
5 0 1 2.8E-02 0 0
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements
6 0 1 2.7E-02 0 0
CUI: C4020968
Disease: Abnormal localization of kidney
Abnormal localization of kidney
40 0 1 1.4E-02 0 0
Abnormal lower motor neuron morphology
23 0 2 3.8E-02 0 0
CUI: C4021661
Disease: Abnormal macrophage morphology
Abnormal macrophage morphology
2 0 1 3.0E-02 0 0
CUI: C0278097
Disease: Abnormal male sexual function
Abnormal male sexual function
12 0 2 4.8E-02 0 0
CUI: C0278061
Disease: Abnormal mental state
Abnormal mental state
24 0 2 3.7E-02 0 0
CUI: C4014650
Disease: Abnormal mitochondrial morphology
Abnormal mitochondrial morphology
13 0 1 2.3E-02 0 0
CUI: C4022687
Disease: Abnormal motor evoked potentials
Abnormal motor evoked potentials
4 0 1 2.9E-02 0 0
Abnormal motor nerve conduction velocity
3 0 1 2.9E-02 0 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination
49 0 2 2.5E-02 0 0
CUI: C4022739
Disease: Abnormal neuron morphology
Abnormal neuron morphology
8 0 1 2.6E-02 0 0