Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Purine-Pyrimidine Metabolism, Inborn Errors
2 0 1 0.50 0 0
CUI: C3203622
Disease: Crystal nephropathy
Crystal nephropathy
2 0 1 0.50 0 0
CUI: C0151236
Disease: Conduction system abnormalities
Conduction system abnormalities
3 0 1 0.33 0 0
CUI: C0268117
Disease: Gout, HPRT-Related
Gout, HPRT-Related
3 0 1 0.33 0 0
Adenine phosphoribosyltransferase deficiency
3 11 1 0.33 1 9.1E-02
CUI: C0340420
Disease: Cardiac glycogenosis
Cardiac glycogenosis
3 0 1 0.33 0 0
CUI: C3179194
Disease: GALNS Deficiency
GALNS Deficiency
3 0 1 0.33 0 0
CUI: C0268123
Disease: Muscle AMP deaminase deficiency
Muscle AMP deaminase deficiency
4 0 1 0.25 0 0
CUI: C3899154
Disease: familial testicular germ cell tumor
familial testicular germ cell tumor
4 0 1 0.25 0 0
CUI: C1442981
Disease: Alcoholic liver damage
Alcoholic liver damage
6 0 1 0.17 0 0
CUI: C3665382
Disease: 2,8-Dihydroxyadenine Urolithiasis
2,8-Dihydroxyadenine Urolithiasis
6 0 1 0.17 0 0
CUI: C0268104
Disease: Disorder of purine metabolism
Disorder of purine metabolism
7 0 1 0.14 0 0
CUI: C1291390
Disease: Deficiency of phosphorylase kinase
Deficiency of phosphorylase kinase
8 0 1 0.12 0 0
CUI: C0017926
Disease: Glycogen Storage Disease Type VII
Glycogen Storage Disease Type VII
9 0 1 0.11 0 0
Cardiomyopathy associated with another disorder
10 0 1 1.0E-01 0 0
CUI: C0011859
Disease: Lipoatrophic Diabetes Mellitus
Lipoatrophic Diabetes Mellitus
11 0 1 9.1E-02 0 0
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb
11 0 1 9.1E-02 0 0
CUI: C0025637
Disease: Methemoglobinemia
Methemoglobinemia
12 0 1 8.3E-02 0 0
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism
14 0 1 7.1E-02 0 0
CUI: C0268147
Disease: Glycogen storage disease, type IX
Glycogen storage disease, type IX
14 0 1 7.1E-02 0 0
CUI: C0342495
Disease: Macronodular adrenal hyperplasia
Macronodular adrenal hyperplasia
15 0 1 6.7E-02 0 0
CUI: C0020501
Disease: Primary Hyperoxaluria
Primary Hyperoxaluria
16 0 1 6.2E-02 0 0
CUI: C0013428
Disease: Dysuria
Dysuria
17 0 1 5.9E-02 0 0
CUI: C0302362
Disease: Brucella melitensis infection
Brucella melitensis infection
17 0 1 5.9E-02 0 0
CUI: C1136135
Disease: Water Stress
Water Stress
17 0 1 5.9E-02 0 0