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: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome
36 0 21 0.14 0 0
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease
143 82 33 0.14 2 2.3E-02
CUI: C0026703
Disease: Mucopolysaccharidoses
Mucopolysaccharidoses
48 0 20 0.13 0 0
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses
51 0 20 0.12 0 0
CUI: C0028064
Disease: Niemann-Pick Diseases
Niemann-Pick Diseases
25 23 17 0.12 1 3.3E-02
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
108 206 23 0.11 3 1.4E-02
CUI: C0267971
Disease: Storage disease
Storage disease
28 0 14 9.7E-02 0 0
Juvenile Neuronal Ceroid Lipofuscinosis
52 0 16 9.6E-02 0 0
Generalized glycogen storage disease of infants
51 0 15 9.0E-02 0 0
CUI: C4732730
Disease: Blood spots
Blood spots
117 0 20 8.8E-02 0 0
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy
35 0 13 8.6E-02 0 0
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA
25 0 12 8.4E-02 0 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features
194 0 25 8.4E-02 0 0
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A
19 0 11 8.0E-02 0 0
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic
27 0 11 7.5E-02 0 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
345 0 32 7.2E-02 0 0
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses
19 0 10 7.2E-02 0 0
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly
127 0 17 7.1E-02 0 0
Adult Neuronal Ceroid Lipofuscinosis
16 0 9 6.6E-02 0 0
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I
16 0 9 6.6E-02 0 0
Late-Infantile Neuronal Ceroid Lipfuscinosis
19 0 9 6.4E-02 0 0
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
194 0 19 6.2E-02 0 0
CUI: C0751783
Disease: Lafora Disease
Lafora Disease
92 0 13 6.2E-02 0 0
CUI: C1836855
Disease: Vacuolated lymphocytes
Vacuolated lymphocytes
8 0 8 6.2E-02 0 0
CUI: C3805040
Disease: Phospholipidosis
Phospholipidosis
8 0 8 6.2E-02 0 0