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: C1864179
Disease: Elevated serum transaminases during infections
Elevated serum transaminases during infections 		2 0 1 0.50 0 0
CUI: C4021555
Disease: Clinodactyly of the 3rd toe
Clinodactyly of the 3rd toe 		2 0 1 0.50 0 0
CUI: C4476564
Disease: Abnormal brain lactate level by MRS
Abnormal brain lactate level by MRS 		2 0 1 0.50 0 0
CUI: C0152205
Disease: Alternating esotropia
Alternating esotropia 		3 0 1 0.33 0 0
CUI: C0151904
Disease: Aspartate Aminotransferase Increased
Aspartate Aminotransferase Increased 		4 0 1 0.25 0 0
CUI: C4020740
Disease: Clinodactyly of the 4th toe
Clinodactyly of the 4th toe 		5 0 1 0.20 0 0
CUI: C4021578
Disease: Chronic axonal neuropathy
Chronic axonal neuropathy 		5 0 1 0.20 0 0
CUI: C1842836
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii 		6 0 1 0.17 0 0
CUI: C3810018
Disease: Bilateral coxa valga
Bilateral coxa valga 		7 0 1 0.14 0 0
CUI: C4021094
Disease: Type II transferrin isoform profile
Type II transferrin isoform profile 		7 0 1 0.14 0 0
CUI: C0149696
Disease: Food intolerance (disorder)
Food intolerance (disorder) 		8 0 1 0.12 0 0
CUI: C0033680
Disease: Protein-Losing Enteropathies
Protein-Losing Enteropathies 		17 0 1 5.9E-02 0 0
CUI: C4317295
Disease: Congenital disorder of glycosylation type 1s
Congenital disorder of glycosylation type 1s 		19 0 1 5.3E-02 0 0
CUI: C4024900
Disease: Atrophy/Degeneration affecting the brainstem
Atrophy/Degeneration affecting the brainstem 		27 0 1 3.7E-02 0 0
CUI: C0151872
Disease: Prothrombin time increased
Prothrombin time increased 		30 0 1 3.3E-02 0 0
CUI: C0279544
Disease: Adult Alveolar Soft Part Sarcoma
Adult Alveolar Soft Part Sarcoma 		30 0 1 3.3E-02 0 0
CUI: C0279985
Disease: Childhood Alveolar Soft Part Sarcoma
Childhood Alveolar Soft Part Sarcoma 		30 0 1 3.3E-02 0 0
CUI: C1306587
Disease: Acute encephalopathy
Acute encephalopathy 		31 0 1 3.2E-02 0 0
CUI: C1697453
Disease: Spontaneous hematomas
Spontaneous hematomas 		33 0 1 3.0E-02 0 0
CUI: C4518356
Disease: MiT family translocation renal cell carcinoma
MiT family translocation renal cell carcinoma 		33 0 1 3.0E-02 0 0
CUI: C0206657
Disease: Alveolar Soft Part Sarcoma
Alveolar Soft Part Sarcoma 		61 0 1 1.6E-02 0 0
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		67 0 1 1.5E-02 0 0
CUI: C1867873
Disease: Failure to thrive in infancy
Failure to thrive in infancy 		97 0 1 1.0E-02 0 0
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		102 0 1 9.8E-03 0 0
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		114 0 1 8.8E-03 0 0