Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Gerstmann-Straussler-Scheinker Disease
56 39 41 0.69 11 0.28
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
63 16 22 0.26 1 3.8E-02
CUI: C0017920
Disease: Glycogen Storage Disease Type I
Glycogen Storage Disease Type I
24 33 8 0.13 1 2.3E-02
CUI: C0268147
Disease: Glycogen storage disease, type IX
Glycogen storage disease, type IX
14 0 6 0.12 0 0
CUI: C0155210
Disease: Eyelid Xanthoma
Eyelid Xanthoma
19 0 6 0.11 0 0
CUI: C0242216
Disease: Biliary calculi
Biliary calculi
48 31 8 9.5E-02 2 5.0E-02
CUI: C0302314
Disease: Xanthoma
Xanthoma
29 0 6 9.0E-02 0 0
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III
8 0 4 8.3E-02 0 0
CUI: C1291390
Disease: Deficiency of phosphorylase kinase
Deficiency of phosphorylase kinase
8 0 4 8.3E-02 0 0
CUI: C0017924
Disease: Glycogen Storage Disease Type V
Glycogen Storage Disease Type V
22 0 5 8.2E-02 0 0
CUI: C0549399
Disease: Low density lipoprotein increased
Low density lipoprotein increased
23 0 5 8.1E-02 0 0
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia
10 45 4 8.0E-02 1 1.8E-02
CUI: C0856727
Disease: Cholesterol gallstones
Cholesterol gallstones
51 12 7 8.0E-02 2 9.5E-02
CUI: C0271708
Disease: Fasting Hypoglycemia
Fasting Hypoglycemia
39 0 6 7.8E-02 0 0
CUI: C4021796
Disease: Renal steatosis
Renal steatosis
12 0 4 7.7E-02 0 0
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism
14 0 4 7.4E-02 0 0
(Idiopathic) normal pressure hydrocephalus
14 0 4 7.4E-02 0 0
CUI: C0221253
Disease: Xanthoma tendinosum
Xanthoma tendinosum
15 0 4 7.3E-02 0 0
CUI: C0016063
Disease: Osteitis Fibrosa Disseminata
Osteitis Fibrosa Disseminata
19 0 4 6.8E-02 0 0
CUI: C0334660
Disease: Angioendotheliomatosis
Angioendotheliomatosis
19 0 4 6.8E-02 0 0
CUI: C0043325
Disease: Xanthomatosis
Xanthomatosis
20 0 4 6.7E-02 0 0
CUI: C0302164
Disease: Tuberous xanthoma
Tuberous xanthoma
4 0 3 6.7E-02 0 0
CUI: C0011268
Disease: Senile dementia
Senile dementia
21 0 4 6.6E-02 0 0
Sporadic Cerebral Amyloid Angiopathy
6 0 3 6.4E-02 0 0
Abnormality of nervous system physiology
6 0 3 6.4E-02 0 0