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: C1836890
Disease: Hypoplasia of the ciliary body
Hypoplasia of the ciliary body 		1 0 1 1.00 0 0
CUI: C3489732
Disease: Familial mesangial sclerosis
Familial mesangial sclerosis 		1 0 1 1.00 0 0
CUI: C3501249
Disease: Nephrotic Syndrome, Congenital, With Ocular Abnormalities And Congenital Myasthenic Syndrome
Nephrotic Syndrome, Congenital, With Ocular Abnormalities And Congenital Myasthenic Syndrome 		1 0 1 1.00 0 0
CUI: C4476808
Disease: Microcoria
Microcoria 		1 0 1 1.00 0 0
CUI: C4022580
Disease: Unfavorable response of muscle weakness to acetylcholine esterase inhibitors
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors 		2 0 1 0.50 0 0
CUI: C0344263
Disease: Posterior lenticonus
Posterior lenticonus 		3 0 1 0.33 0 0
CUI: C1303009
Disease: Microcoria, congenital
Microcoria, congenital 		3 0 1 0.33 0 0
CUI: C1864238
Disease: Prolonged miniature endplate currents
Prolonged miniature endplate currents 		3 0 1 0.33 0 0
CUI: C4022576
Disease: Slow pupillary light response
Slow pupillary light response 		4 0 1 0.25 0 0
CUI: C1862481
Disease: Limited wrist extension
Limited wrist extension 		5 0 1 0.20 0 0
CUI: C1836876
Disease: Pierson syndrome
Pierson syndrome 		7 13 1 0.14 6 0.35
CUI: C1567744
Disease: Alport Syndrome, Autosomal Recessive
Alport Syndrome, Autosomal Recessive 		8 0 1 0.12 0 0
CUI: C4025676
Disease: Abnormality of the knee
Abnormality of the knee 		10 0 1 1.0E-01 0 0
CUI: C1858427
Disease: Limited extraocular movements
Limited extraocular movements 		11 0 1 9.1E-02 0 0
CUI: C1567742
Disease: Alport Syndrome, X-Linked
Alport Syndrome, X-Linked 		13 0 1 7.7E-02 0 0
CUI: C4022922
Disease: Abnormal enzyme/coenzyme activity
Abnormal enzyme/coenzyme activity 		13 0 1 7.7E-02 0 0
CUI: C4511620
Disease: Autosomal dominant tubulointerstitial kidney disease
Autosomal dominant tubulointerstitial kidney disease 		13 0 1 7.7E-02 0 0
CUI: C0239043
Disease: Difficulty chewing
Difficulty chewing 		14 0 1 7.1E-02 0 0
CUI: C0239831
Disease: Hand muscle weakness
Hand muscle weakness 		14 0 1 7.1E-02 0 0
CUI: C1849341
Disease: Triangular mouth
Triangular mouth 		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: C0795949
Disease: Galloway Mowat syndrome
Galloway Mowat syndrome 		15 0 1 6.7E-02 0 0
CUI: C4025615
Disease: Decreased size of nerve terminals
Decreased size of nerve terminals 		15 0 1 6.7E-02 0 0
CUI: C0344539
Disease: Hypoplasia of iris
Hypoplasia of iris 		19 0 1 5.3E-02 0 0
CUI: C0149520
Disease: Acute Cholecystitis
Acute Cholecystitis 		21 0 1 4.8E-02 0 0