Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Recurrent infections in infancy and early childhood
2 0 1 0.25 0 0
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma
2 0 1 0.25 0 0
BEST VITELLIFORM MACULAR DYSTROPHY, MULTIFOCAL (disorder)
2 0 1 0.25 0 0
Duchenne or Becker muscular dystrophy
7 0 2 0.25 0 0
Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
2 0 1 0.25 0 0
Cystoid macular retinal degeneration
3 0 1 0.20 0 0
CUI: C0155359
Disease: Scleral staphyloma
Scleral staphyloma
3 0 1 0.20 0 0
CUI: C0268418
Disease: Deficiency of glycerol kinase
Deficiency of glycerol kinase
3 0 1 0.20 0 0
Severe childhood autosomal recessive muscular dystrophy
3 0 1 0.20 0 0
CUI: C0741933
Disease: cardiac symptom
cardiac symptom
9 0 2 0.20 0 0
3-@METHYLGLUTACONIC ACIDURIA, TYPE V
3 0 1 0.20 0 0
CUI: C1866293
Disease: Retinal cone dystrophy 2
Retinal cone dystrophy 2
3 0 1 0.20 0 0
CUI: C2176208
Disease: Retinal arteriolar constriction
Retinal arteriolar constriction
3 0 1 0.20 0 0
CUI: C0158447
Disease: Idiopathic osteoporosis
Idiopathic osteoporosis
10 0 2 0.18 0 0
Cardiomyopathy associated with another disorder
10 0 2 0.18 0 0
CUI: C0155360
Disease: Staphyloma posticum
Staphyloma posticum
4 0 1 0.17 0 0
Myopathy with Abnormal Lipid Metabolism
4 0 1 0.17 0 0
CUI: C0546343
Disease: Mucosal erosion
Mucosal erosion
4 0 1 0.17 0 0
CUI: C1855579
Disease: Exercise-induced muscle stiffness
Exercise-induced muscle stiffness
4 0 1 0.17 0 0
Juvenile-Onset Vitelliform Macular Dystrophy
4 0 1 0.17 0 0
KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder)
4 0 1 0.17 0 0
CUI: C4024817
Disease: Vitelliform-like macular lesions
Vitelliform-like macular lesions
4 0 1 0.17 0 0
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome
4 0 1 0.17 0 0
CUI: C0948775
Disease: High weight
High weight
12 0 2 0.15 0 0
Duchenne and Becker Muscular Dystrophy
12 0 2 0.15 0 0