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: C0238740
Disease: severe back pain
severe back pain 		1 0 1 0.50 0 0
CUI: C0580550
Disease: Lymphocyte count abnormal
Lymphocyte count abnormal 		1 1 1 0.50 1 1.00
CUI: C3275959
Disease: LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO
LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO 		1 0 1 0.50 0 0
CUI: C3711382
Disease: Familial Acute Myeloid Leukemia with Mutated Cebpa
Familial Acute Myeloid Leukemia with Mutated Cebpa 		1 0 1 0.50 0 0
CUI: C3806688
Disease: Solute carrier family 35 member A2 congenital disorder of glycosylation
Solute carrier family 35 member A2 congenital disorder of glycosylation 		1 12 1 0.50 1 8.3E-02
CUI: C4022943
Disease: Decreased galactosylation of N-linked protein glycosylation
Decreased galactosylation of N-linked protein glycosylation 		1 0 1 0.50 0 0
CUI: C4024638
Disease: Transient nephrotic syndrome
Transient nephrotic syndrome 		1 0 1 0.50 0 0
CUI: C4054752
Disease: Hypocellular Myelodysplastic Syndrome
Hypocellular Myelodysplastic Syndrome 		1 0 1 0.50 0 0
CUI: C4476572
Disease: Elevated brain N-acetyl aspartate level by MRS
Elevated brain N-acetyl aspartate level by MRS 		1 0 1 0.50 0 0
CUI: C4476805
Disease: Increased circulating thyroglobulin level
Increased circulating thyroglobulin level 		1 0 1 0.50 0 0
CUI: C0234650
Disease: Ocular flutter
Ocular flutter 		2 0 1 0.33 0 0
CUI: C0275706
Disease: Infection due to Mycobacterium kansasii
Infection due to Mycobacterium kansasii 		2 0 1 0.33 0 0
CUI: C0427544
Disease: Monocytopenia
Monocytopenia 		2 0 1 0.33 0 0
CUI: C0431928
Disease: Congenital overgrowth of lower limb
Congenital overgrowth of lower limb 		2 2 1 0.33 1 0.50
CUI: C1737260
Disease: Recurrent mycobacterium avium complex infections
Recurrent mycobacterium avium complex infections 		2 0 1 0.33 0 0
CUI: C1839972
Disease: Increased IgM level
Increased IgM level 		2 2 1 0.33 1 0.50
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		2 0 1 0.33 0 0
CUI: C4021098
Disease: Abnormal natural killer cell morphology
Abnormal natural killer cell morphology 		2 0 1 0.33 0 0
CUI: C4021199
Disease: EEG with focal epileptiform discharges
EEG with focal epileptiform discharges 		2 0 1 0.33 0 0
CUI: C4021755
Disease: Abnormality of midbrain morphology
Abnormality of midbrain morphology 		2 0 1 0.33 0 0
CUI: C4022928
Disease: Decreased sialylation of O-linked protein glycosylation
Decreased sialylation of O-linked protein glycosylation 		2 0 1 0.33 0 0
CUI: C4021902
Disease: Short corpus callosum
Short corpus callosum 		3 0 1 0.25 0 0
CUI: C0020241
Disease: Hydroa Vacciniforme
Hydroa Vacciniforme 		4 0 1 0.20 0 0
CUI: C0428282
Disease: Serum creatinine low
Serum creatinine low 		4 2 1 0.20 1 0.50
CUI: C0553576
Disease: Systemic mycosis
Systemic mycosis 		4 0 1 0.20 0 0