Source: ALL
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: C0580550
Disease: Lymphocyte count abnormal
Lymphocyte count abnormal 		1 1 1 1.00 1 8.3E-02
CUI: C4022943
Disease: Decreased galactosylation of N-linked protein glycosylation
Decreased galactosylation of N-linked protein glycosylation 		1 0 1 1.00 0 0
CUI: C4024638
Disease: Transient nephrotic syndrome
Transient nephrotic syndrome 		1 0 1 1.00 0 0
CUI: C4476572
Disease: Elevated brain N-acetyl aspartate level by MRS
Elevated brain N-acetyl aspartate level by MRS 		1 0 1 1.00 0 0
CUI: C4476805
Disease: Increased circulating thyroglobulin level
Increased circulating thyroglobulin level 		1 0 1 1.00 0 0
CUI: C0234650
Disease: Ocular flutter
Ocular flutter 		2 0 1 0.50 0 0
CUI: C0431928
Disease: Congenital overgrowth of lower limb
Congenital overgrowth of lower limb 		2 2 1 0.50 1 7.7E-02
CUI: C0580316
Disease: Neutrophil count abnormal
Neutrophil count abnormal 		2 1 1 0.50 1 8.3E-02
CUI: C1839972
Disease: Increased IgM level
Increased IgM level 		2 2 1 0.50 1 7.7E-02
CUI: C4021199
Disease: EEG with focal epileptiform discharges
EEG with focal epileptiform discharges 		2 0 1 0.50 0 0
CUI: C4021755
Disease: Abnormality of midbrain morphology
Abnormality of midbrain morphology 		2 0 1 0.50 0 0
CUI: C4022928
Disease: Decreased sialylation of O-linked protein glycosylation
Decreased sialylation of O-linked protein glycosylation 		2 0 1 0.50 0 0
CUI: C4021902
Disease: Short corpus callosum
Short corpus callosum 		3 0 1 0.33 0 0
CUI: C0428282
Disease: Serum creatinine low
Serum creatinine low 		4 2 1 0.25 1 7.7E-02
CUI: C0853697
Disease: Neutrophil count decreased
Neutrophil count decreased 		4 5 1 0.25 1 6.2E-02
CUI: C1856251
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I 		4 0 1 0.25 0 0
CUI: C1860130
Disease: Low alkaline phosphatase
Low alkaline phosphatase 		4 7 1 0.25 1 5.6E-02
CUI: C4072885
Disease: Increased serum testosterone level
Increased serum testosterone level 		5 1 1 0.20 1 8.3E-02
CUI: C0232475
Disease: Decreased peristalsis
Decreased peristalsis 		6 2 1 0.17 1 7.7E-02
CUI: C0003081
Disease: Anisometropia
Anisometropia 		7 0 1 0.14 0 0
CUI: C0239935
Disease: Hematocrit increased
Hematocrit increased 		7 1 1 0.14 1 8.3E-02
CUI: C4280803
Disease: Decreased CSF homovanillic acid
Decreased CSF homovanillic acid 		7 2 1 0.14 1 7.7E-02
CUI: C4476822
Disease: Hypoplastic hippocampus
Hypoplastic hippocampus 		7 0 1 0.14 0 0
CUI: C0860609
Disease: Inappropriate crying
Inappropriate crying 		8 2 1 0.12 1 7.7E-02
CUI: C0266360
Disease: Streak gonad
Streak gonad 		9 0 1 0.11 0 0