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: C1970820
Disease: Fabry Disease, Cardiac Variant
Fabry Disease, Cardiac Variant
2 5 2 0.40 1 7.2E-03
Anterior beaking of lumbar vertebrae
4 0 2 0.29 0 0
CUI: C0232726
Disease: Rectal tenesmus
Rectal tenesmus
1 0 1 0.20 0 0
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria
1 0 1 0.20 0 0
CUI: C0392178
Disease: Lipiduria
Lipiduria
1 0 1 0.20 0 0
CUI: C1836522
Disease: Schindler Disease, Type II
Schindler Disease, Type II
1 0 1 0.20 0 0
White mater abnormalities in the posterior periventricular region
1 0 1 0.20 0 0
CUI: C1836544
Disease: Schindler Disease, Type I
Schindler Disease, Type I
1 0 1 0.20 0 0
Intimal thickening in the coronary arteries
1 0 1 0.20 0 0
Gangliosidosis, Generalized GM1, Type I, with Cardiac Involvement
1 0 1 0.20 0 0
ASPARTYLGLUCOSAMINURIA, FINNISH TYPE
1 0 1 0.20 0 0
CUI: C4024882
Disease: Telangiectasia of the oral mucosa
Telangiectasia of the oral mucosa
1 0 1 0.20 0 0
CUI: C1836855
Disease: Vacuolated lymphocytes
Vacuolated lymphocytes
8 0 2 0.18 0 0
CUI: C4317149
Disease: Vacuolated Lymphocyte Count
Vacuolated Lymphocyte Count
8 0 2 0.18 0 0
CUI: C0085131
Disease: Gangliosidosis GM1
Gangliosidosis GM1
2 0 1 0.17 0 0
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB
2 0 1 0.17 0 0
CUI: C0154671
Disease: Degenerative brain disorder
Degenerative brain disorder
2 0 1 0.17 0 0
Gangliosidosis, Generalized GM1, Type 1 (disorder)
2 0 1 0.17 0 0
Gangliosidosis, Generalized GM1, Type 2
2 0 1 0.17 0 0
Gangliosidosis, Generalized GM1, Type 3
2 0 1 0.17 0 0
CUI: C0580413
Disease: Prothrombin time low
Prothrombin time low
2 0 1 0.17 0 0
Increased urinary O-linked sialopeptides
2 0 1 0.17 0 0
CUI: C1854783
Disease: Grayish enamel
Grayish enamel
2 0 1 0.17 0 0
CUI: C1854785
Disease: Constricted iliac wings
Constricted iliac wings
2 0 1 0.17 0 0
Epiphyseal deformities of tubular bones
2 0 1 0.17 0 0