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: C1855790
Disease: Hepatic glycogen storage
Hepatic glycogen storage 		1 0 1 0.50 0 0
CUI: C3694532
Disease: Glycogen storage disease, type IXA
Glycogen storage disease, type IXA 		1 0 1 0.50 0 0
CUI: C2748941
Disease: Glycogen Storage Disease, Type IXA2
Glycogen Storage Disease, Type IXA2 		2 0 1 0.33 0 0
CUI: C3694531
Disease: GLYCOGEN STORAGE DISEASE IXa1
GLYCOGEN STORAGE DISEASE IXa1 		2 0 1 0.33 0 0
CUI: C0221005
Disease: Mauriac's syndrome
Mauriac's syndrome 		3 0 1 0.25 0 0
CUI: C1291390
Disease: Deficiency of phosphorylase kinase
Deficiency of phosphorylase kinase 		8 0 2 0.25 0 0
CUI: C4022586
Disease: Fatigable weakness of skeletal muscles
Fatigable weakness of skeletal muscles 		8 0 2 0.25 0 0
CUI: C0853697
Disease: Neutrophil count decreased
Neutrophil count decreased 		4 0 1 0.20 0 0
CUI: C0268147
Disease: Glycogen storage disease, type IX
Glycogen storage disease, type IX 		14 0 2 0.14 0 0
CUI: C0877056
Disease: Hypoglycemic seizures
Hypoglycemic seizures 		19 0 2 0.11 0 0
CUI: C0342643
Disease: Autosomal recessive hypophosphatemic vitamin D refractory rickets
Autosomal recessive hypophosphatemic vitamin D refractory rickets 		11 0 1 8.3E-02 0 0
CUI: C0271708
Disease: Fasting Hypoglycemia
Fasting Hypoglycemia 		39 0 2 5.1E-02 0 0
CUI: C0017920
Disease: Glycogen Storage Disease Type I
Glycogen Storage Disease Type I 		24 0 1 4.0E-02 0 0
CUI: C0014867
Disease: Esophageal Varices
Esophageal Varices 		56 0 2 3.6E-02 0 0
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		59 0 2 3.4E-02 0 0
CUI: C0267818
Disease: Bile duct proliferation
Bile duct proliferation 		30 0 1 3.2E-02 0 0
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		63 0 2 3.2E-02 0 0
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		36 0 1 2.7E-02 0 0
CUI: C0029438
Disease: Massive Osteolyses
Massive Osteolyses 		44 0 1 2.2E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 2 1.9E-02 0 0
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		56 0 1 1.8E-02 0 0
CUI: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma 		114 0 2 1.8E-02 0 0
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		118 0 2 1.7E-02 0 0
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		118 0 2 1.7E-02 0 0
CUI: C0022638
Disease: Ketosis
Ketosis 		119 0 2 1.7E-02 0 0