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: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele
0 9 0 0 1 3.3E-02
CUI: C0035085
Disease: Renal infarction
Renal infarction
0 1 0 0 1 4.5E-02
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination
0 220 0 0 1 4.1E-03
Heparin-induced thrombocytopenia with thrombosis
0 1 0 0 1 4.5E-02
Mean corpuscular hemoglobin concentration determination
0 19 0 0 1 2.5E-02
CUI: C3495893
Disease: Congenital thrombophilia
Congenital thrombophilia
0 1 0 0 1 4.5E-02
Homozygous methylenetetrahydrofolate reductase mutation
0 1 0 0 1 4.5E-02
CUI: C4733577
Disease: adult chronic myelogenous leukemia
adult chronic myelogenous leukemia
0 3 0 0 1 4.2E-02
CUI: C4749271
Disease: Aleukemic mast cell leukemia
Aleukemic mast cell leukemia
0 2 0 0 2 9.1E-02
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
264 0 1 1.8E-03 0 0
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
208 0 1 2.0E-03 0 0
CUI: C1848207
Disease: Poor speech
Poor speech
208 0 1 2.0E-03 0 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia
172 0 1 2.2E-03 0 0
CUI: C1836038
Disease: Poor head control
Poor head control
162 0 1 2.2E-03 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal
158 0 1 2.2E-03 0 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk
156 0 1 2.3E-03 0 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead
149 0 1 2.3E-03 0 0
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity
147 0 1 2.3E-03 0 0
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
144 0 1 2.3E-03 0 0
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady
143 0 1 2.3E-03 0 0
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases
130 0 1 2.4E-03 0 0
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal
130 0 1 2.4E-03 0 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay
130 0 1 2.4E-03 0 0
Congenital ocular coloboma (disorder)
129 0 1 2.4E-03 0 0
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip
125 0 1 2.4E-03 0 0