Source: CLINVAR ×
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: C0332601
Disease: Cushingoid facies
Cushingoid facies 		1 1 1 1.00 1 2.3E-02
CUI: C4476869
Disease: Elevated gamma-glutamyltransferase activity
Elevated gamma-glutamyltransferase activity 		1 1 1 1.00 1 2.3E-02
CUI: C0155210
Disease: Eyelid Xanthoma
Eyelid Xanthoma 		2 32 1 0.50 1 1.3E-02
CUI: C0813230
Disease: Serum triglycerides increased
Serum triglycerides increased 		5 6 1 0.20 1 2.0E-02
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		6 6 1 0.17 1 2.0E-02
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		7 8 1 0.14 1 2.0E-02
CUI: C0002871
Disease: Anemia
Anemia 		11 14 1 9.1E-02 1 1.8E-02
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		12 15 1 8.3E-02 1 1.7E-02
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		14 19 1 7.1E-02 1 1.6E-02
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised 		15 6 1 6.7E-02 1 2.0E-02
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		21 30 1 4.8E-02 2 2.8E-02
CUI: C0349588
Disease: Short stature
Short stature 		190 292 1 5.3E-03 1 3.0E-03
CUI: C0036572
Disease: Seizures
Seizures 		237 417 1 4.2E-03 1 2.2E-03