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: C0276908
Disease: Infection by Pneumocystis jirovecii (disorder)
Infection by Pneumocystis jirovecii (disorder) 		2 0 1 0.50 0 0
CUI: C1446787
Disease: Cramping sensation quality
Cramping sensation quality 		2 0 1 0.50 0 0
CUI: C2748568
Disease: Immune dysfunction with T-cell inactivation due to calcium entry defect 1
Immune dysfunction with T-cell inactivation due to calcium entry defect 1 		2 0 1 0.50 0 0
CUI: C1303009
Disease: Microcoria, congenital
Microcoria, congenital 		3 2 1 0.33 1 0.20
CUI: C1861451
Disease: Stormorken Syndrome
Stormorken Syndrome 		3 6 1 0.33 1 0.11
CUI: C2748557
Disease: Immune dysfunction with T-cell inactivation due to calcium entry defect 2
Immune dysfunction with T-cell inactivation due to calcium entry defect 2 		3 0 1 0.33 0 0
CUI: C4011726
Disease: MYOPATHY, TUBULAR AGGREGATE, 1
MYOPATHY, TUBULAR AGGREGATE, 1 		3 0 1 0.33 0 0
CUI: C4021024
Disease: Muscle fiber tubular inclusions
Muscle fiber tubular inclusions 		8 0 1 0.12 0 0
CUI: C0151854
Disease: Abnormal platelets
Abnormal platelets 		11 0 1 9.1E-02 0 0
CUI: C3661489
Disease: Autosomal Dominant Myotubular Myopathy
Autosomal Dominant Myotubular Myopathy 		13 0 1 7.7E-02 0 0
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		13 0 1 7.7E-02 0 0
CUI: C0398794
Disease: Hypopigmentation-immunodeficiency disease
Hypopigmentation-immunodeficiency disease 		14 0 1 7.1E-02 0 0
CUI: C1864580
Disease: Type 2 muscle fiber atrophy
Type 2 muscle fiber atrophy 		14 0 1 7.1E-02 0 0
CUI: C4022583
Disease: Fatiguable weakness of proximal limb muscles
Fatiguable weakness of proximal limb muscles 		14 0 1 7.1E-02 0 0
CUI: C1834558
Disease: Myopathy, Centronuclear, Autosomal Dominant
Myopathy, Centronuclear, Autosomal Dominant 		16 0 1 6.2E-02 0 0
CUI: C2220255
Disease: Motor disturbances
Motor disturbances 		16 0 1 6.2E-02 0 0
CUI: C3645536
Disease: Autosomal Recessive Centronuclear Myopathy
Autosomal Recessive Centronuclear Myopathy 		16 0 1 6.2E-02 0 0
CUI: C0752282
Disease: Congenital Structural Myopathy
Congenital Structural Myopathy 		18 0 1 5.6E-02 0 0
CUI: C0231274
Disease: Intolerant of heat
Intolerant of heat 		19 0 1 5.3E-02 0 0
CUI: C0026205
Disease: Miosis disorder
Miosis disorder 		20 0 1 5.0E-02 0 0
CUI: C0000921
Disease: Accidental Falls
Accidental Falls 		22 0 1 4.5E-02 0 0
CUI: C1856694
Disease: Areflexia of lower limbs
Areflexia of lower limbs 		24 0 1 4.2E-02 0 0
CUI: C4021745
Disease: Abnormality of the musculature
Abnormality of the musculature 		24 0 1 4.2E-02 0 0
CUI: C1708565
Disease: Invasive Cutaneous Melanoma
Invasive Cutaneous Melanoma 		25 0 1 4.0E-02 0 0
CUI: C1842170
Disease: Centrally nucleated skeletal muscle fibers
Centrally nucleated skeletal muscle fibers 		25 0 1 4.0E-02 0 0