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: C0029438
Disease: Massive Osteolyses
Massive Osteolyses 		44 11 22 0.26 1 3.8E-02
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		56 39 22 0.23 1 1.9E-02
CUI: C0268147
Disease: Glycogen storage disease, type IX
Glycogen storage disease, type IX 		14 0 10 0.15 0 0
CUI: C0017920
Disease: Glycogen Storage Disease Type I
Glycogen Storage Disease Type I 		24 33 9 0.12 4 8.9E-02
CUI: C0271708
Disease: Fasting Hypoglycemia
Fasting Hypoglycemia 		39 0 10 0.11 0 0
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		51 16 10 9.6E-02 1 3.2E-02
CUI: C1291390
Disease: Deficiency of phosphorylase kinase
Deficiency of phosphorylase kinase 		8 0 6 9.2E-02 0 0
CUI: C0270984
Disease: Metabolic myopathy
Metabolic myopathy 		18 0 6 8.0E-02 0 0
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		76 0 10 7.8E-02 0 0
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		36 0 7 7.6E-02 0 0
CUI: C0017924
Disease: Glycogen Storage Disease Type V
Glycogen Storage Disease Type V 		22 0 6 7.6E-02 0 0
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		8 125 5 7.6E-02 1 7.1E-03
CUI: C1855578
Disease: Exercise-induced muscle cramps
Exercise-induced muscle cramps 		8 0 5 7.6E-02 0 0
CUI: C0268146
Disease: Glucose-6-phosphate transport defect
Glucose-6-phosphate transport defect 		9 63 5 7.5E-02 4 5.3E-02
CUI: C0342790
Disease: Carnitine palmitoyl transferase 2 deficiency
Carnitine palmitoyl transferase 2 deficiency 		11 0 5 7.2E-02 0 0
CUI: C0027080
Disease: Myoglobinuria
Myoglobinuria 		17 0 5 6.7E-02 0 0
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		194 269 16 6.6E-02 3 1.1E-02
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		23 0 5 6.2E-02 0 0
CUI: C0340279
Disease: Ventricular hypertrophy
Ventricular hypertrophy 		60 0 7 6.0E-02 0 0
CUI: C0028064
Disease: Niemann-Pick Diseases
Niemann-Pick Diseases 		25 0 5 6.0E-02 0 0
CUI: C0017926
Disease: Glycogen Storage Disease Type VII
Glycogen Storage Disease Type VII 		9 9 4 5.9E-02 1 4.2E-02
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		10 45 4 5.8E-02 4 7.0E-02
CUI: C0342643
Disease: Autosomal recessive hypophosphatemic vitamin D refractory rickets
Autosomal recessive hypophosphatemic vitamin D refractory rickets 		11 2 4 5.7E-02 1 5.9E-02
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb 		11 0 4 5.7E-02 0 0
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		49 0 6 5.7E-02 0 0