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: C0014457
Disease: Eosinophilia
Eosinophilia 		325 23 1 3.0E-03 1 4.3E-02
CUI: C0015230
Disease: Exanthema
Exanthema 		251 14 1 3.9E-03 1 7.1E-02
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		973 31 3 3.1E-03 1 3.2E-02
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 3 1.4E-03 1 1.8E-03
CUI: C0151480
Disease: Anti-nuclear factor positive
Anti-nuclear factor positive 		35 3 1 2.6E-02 1 0.33
CUI: C0151683
Disease: Neutrophilia (finding)
Neutrophilia (finding) 		6 1 1 0.11 1 1.00
CUI: C0158986
Disease: Neonatal hypoglycemia
Neonatal hypoglycemia 		55 13 1 1.7E-02 1 7.7E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 1 2.1E-03 1 1.6E-02
CUI: C0236175
Disease: Increased IgE level
Increased IgE level 		4 6 1 0.14 1 0.17
CUI: C0239984
Disease: Increased IgA level
Increased IgA level 		1 1 1 0.25 1 1.00
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 1 2.9E-02 1 2.7E-02
CUI: C1820737
Disease: Temperature instability
Temperature instability 		12 8 1 6.7E-02 1 0.12
CUI: C1839305
Disease: Decreased proportion of CD8-positive T cells
Decreased proportion of CD8-positive T cells 		5 1 1 0.12 1 1.00
CUI: C1839972
Disease: Increased IgM level
Increased IgM level 		2 2 1 0.20 1 0.50
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		212 9 1 4.7E-03 1 0.11
CUI: C1858977
Disease: Increased IgG level
Increased IgG level 		1 1 1 0.25 1 1.00
CUI: C4021098
Disease: Abnormal natural killer cell morphology
Abnormal natural killer cell morphology 		2 1 1 0.20 1 1.00
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		75 8 1 1.3E-02 1 0.12
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		38 19 1 2.4E-02 1 5.3E-02
CUI: C4025749
Disease: Abnormality of the spleen
Abnormality of the spleen 		26 1 1 3.4E-02 1 1.00
CUI: C4072911
Disease: Decreased proportion of naive B cells
Decreased proportion of naive B cells 		1 1 1 0.25 1 1.00
CUI: C4072914
Disease: Increased proportion of memory B cells
Increased proportion of memory B cells 		1 1 1 0.25 1 1.00
CUI: C4721383
Disease: Abnormal esophagus morphology
Abnormal esophagus morphology 		1 1 1 0.25 1 1.00
CUI: C4747989
Disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 		1 3 1 0.25 1 0.33
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 1 9.4E-03 0 0