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: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		27 0 4 8.3E-02 0 0
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		108 0 10 8.1E-02 0 0
CUI: C1843373
Disease: Foam cells in visceral organs and CNS
Foam cells in visceral organs and CNS 		2 0 2 8.0E-02 0 0
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		31 0 4 7.7E-02 0 0
CUI: C0545044
Disease: Acrokeratoelastoidosis of Costa
Acrokeratoelastoidosis of Costa 		3 0 2 7.7E-02 0 0
CUI: C0037926
Disease: Compression of spinal cord
Compression of spinal cord 		60 0 6 7.6E-02 0 0
CUI: C0259817
Disease: Xerosis
Xerosis 		4 0 2 7.4E-02 0 0
CUI: C0751173
Disease: Glycogen Storage Disease Type II, Infantile
Glycogen Storage Disease Type II, Infantile 		4 0 2 7.4E-02 0 0
CUI: C0026703
Disease: Mucopolysaccharidoses
Mucopolysaccharidoses 		48 0 5 7.4E-02 0 0
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses 		19 0 3 7.3E-02 0 0
CUI: C0043325
Disease: Xanthomatosis
Xanthomatosis 		20 0 3 7.1E-02 0 0
CUI: C0264492
Disease: Chronic respiratory failure
Chronic respiratory failure 		5 0 2 7.1E-02 0 0
CUI: C0264652
Disease: Hypertensive heart failure
Hypertensive heart failure 		5 0 2 7.1E-02 0 0
CUI: C0268275
Disease: Tay-Sachs Disease, AB Variant
Tay-Sachs Disease, AB Variant 		5 0 2 7.1E-02 0 0
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		51 0 5 7.0E-02 0 0
CUI: C0009918
Disease: Contracture of joint
Contracture of joint 		36 0 4 7.0E-02 0 0
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		36 0 4 7.0E-02 0 0
CUI: C0085400
Disease: Neurofibrillary degeneration (morphologic abnormality)
Neurofibrillary degeneration (morphologic abnormality) 		21 0 3 7.0E-02 0 0
CUI: C0017083
Disease: Gangliosidoses
Gangliosidoses 		6 0 2 6.9E-02 0 0
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		6 0 2 6.9E-02 0 0
CUI: C1285291
Disease: Fetal ascites
Fetal ascites 		6 0 2 6.9E-02 0 0
CUI: C1411934
Disease: Mycobacterium leprae infection
Mycobacterium leprae infection 		6 0 2 6.9E-02 0 0
CUI: C2718068
Disease: beta-Galactosidase Deficiency
beta-Galactosidase Deficiency 		6 0 2 6.9E-02 0 0
CUI: C4732730
Disease: Blood spots
Blood spots 		117 0 9 6.8E-02 0 0
CUI: C0268255
Disease: Farber Lipogranulomatosis
Farber Lipogranulomatosis 		7 0 2 6.7E-02 0 0