Source: ALL
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: C4317149
Disease: Vacuolated Lymphocyte Count
Vacuolated Lymphocyte Count 		8 0 8 6.2E-02 0 0
CUI: C0026709
Disease: Mucopolysaccharidosis VI
Mucopolysaccharidosis VI 		11 0 8 6.0E-02 0 0
CUI: C4316899
Disease: Cystinosis
Cystinosis 		32 0 9 5.9E-02 0 0
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		17 0 8 5.8E-02 0 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		523 0 35 5.7E-02 0 0
CUI: C0949664
Disease: Tauopathies
Tauopathies 		245 0 20 5.6E-02 0 0
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		21 0 8 5.6E-02 0 0
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		233 0 19 5.5E-02 0 0
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology 		42 0 9 5.5E-02 0 0
CUI: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism 		119 0 13 5.5E-02 0 0
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		26 129 8 5.4E-02 1 7.4E-03
CUI: C0423250
Disease: Corneal stromal opacities
Corneal stromal opacities 		46 0 9 5.4E-02 0 0
CUI: C2216370
Disease: Cherry red spot of the macula
Cherry red spot of the macula 		9 0 7 5.3E-02 0 0
CUI: C0086648
Disease: MPS III B
MPS III B 		13 92 7 5.1E-02 1 1.0E-02
CUI: C0085131
Disease: Gangliosidosis GM1
Gangliosidosis GM1 		14 31 7 5.1E-02 1 2.6E-02
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		163 0 14 5.0E-02 0 0
CUI: C0037899
Disease: Sphingolipidoses
Sphingolipidoses 		17 0 7 5.0E-02 0 0
CUI: C0268274
Disease: Gangliosidoses, GM2
Gangliosidoses, GM2 		18 0 7 5.0E-02 0 0
CUI: C0020725
Disease: Type II Mucolipidosis
Type II Mucolipidosis 		43 0 8 4.8E-02 0 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 0 27 4.8E-02 0 0
CUI: C0268281
Disease: Infantile neuronal ceroid lipofuscinosis
Infantile neuronal ceroid lipofuscinosis 		22 0 7 4.8E-02 0 0
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		176 0 14 4.8E-02 0 0
CUI: C0042798
Disease: Low Vision
Low Vision 		157 0 13 4.7E-02 0 0
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		113 0 11 4.7E-02 0 0
CUI: C0024421
Disease: Macroglossia
Macroglossia 		115 0 11 4.7E-02 0 0