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: C1856478
Disease: Hypometric horizontal saccades
Hypometric horizontal saccades 		1 0 1 1.00 0 0
CUI: C2676021
Disease: DEMENTIA, LEWY BODY, SUSCEPTIBILITY TO
DEMENTIA, LEWY BODY, SUSCEPTIBILITY TO 		1 2 1 1.00 2 0.11
CUI: C2931585
Disease: Gaucher-like disease
Gaucher-like disease 		1 0 1 1.00 0 0
CUI: C1842704
Disease: GAUCHER DISEASE, PERINATAL LETHAL
GAUCHER DISEASE, PERINATAL LETHAL 		2 18 1 0.50 9 0.32
CUI: C1856477
Disease: Slowed horizontal saccades
Slowed horizontal saccades 		3 0 1 0.33 0 0
CUI: C4024794
Disease: Horizontal supranuclear gaze palsy
Horizontal supranuclear gaze palsy 		3 0 1 0.33 0 0
CUI: C1408507
Disease: Supranuclear ophthalmoplegia
Supranuclear ophthalmoplegia 		5 0 1 0.20 0 0
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		6 34 1 0.17 19 0.56
CUI: C0348489
Disease: Other sphingolipidosis
Other sphingolipidosis 		7 0 1 0.14 0 0
CUI: C0428465
Disease: Serum lipids high (finding)
Serum lipids high (finding) 		7 0 1 0.14 0 0
CUI: C1851972
Disease: Reticular hyperpigmentation
Reticular hyperpigmentation 		7 0 1 0.14 0 0
CUI: C1855895
Disease: Erlenmeyer flask deformity of the femurs
Erlenmeyer flask deformity of the femurs 		7 0 1 0.14 0 0
CUI: C0919718
Disease: Calcification of mitral valve
Calcification of mitral valve 		8 0 1 0.12 0 0
CUI: C4531121
Disease: Monotonic speech
Monotonic speech 		9 0 1 0.11 0 0
CUI: C0340968
Disease: Deficiency of pyruvate kinase
Deficiency of pyruvate kinase 		10 0 1 1.0E-01 0 0
CUI: C1836904
Disease: Spastic/hyperactive bladder
Spastic/hyperactive bladder 		10 0 1 1.0E-01 0 0
CUI: C1851959
Disease: Fluctuations in consciousness
Fluctuations in consciousness 		10 0 1 1.0E-01 0 0
CUI: C0747651
Disease: Recurrent aspiration pneumonia
Recurrent aspiration pneumonia 		11 0 1 9.1E-02 0 0
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		12 65 1 8.3E-02 1 1.2E-02
CUI: C0400979
Disease: Obstruction of biliary tree
Obstruction of biliary tree 		12 0 1 8.3E-02 0 0
CUI: C4023698
Disease: Everted upper lip vermilion
Everted upper lip vermilion 		12 0 1 8.3E-02 0 0
CUI: C0751378
Disease: Neurologic Signs
Neurologic Signs 		13 1 1 7.7E-02 1 5.3E-02
CUI: C3163801
Disease: Abnormality of aortic arch
Abnormality of aortic arch 		13 0 1 7.7E-02 0 0
CUI: C0240341
Disease: Micrographia
Micrographia 		14 0 1 7.1E-02 0 0
CUI: C0548883
Disease: Low frustration tolerance
Low frustration tolerance 		14 0 1 7.1E-02 0 0