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: C4703722
Disease: Superior rectus muscle underaction
Superior rectus muscle underaction 		0 1 0 0 1 1.1E-02
CUI: C0013132
Disease: Drooling
Drooling 		95 0 1 1.7E-03 0 0
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		92 0 1 1.7E-03 0 0
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		85 0 1 1.7E-03 0 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 1 1.7E-03 0 0
CUI: C0009421
Disease: Comatose
Comatose 		78 0 1 1.8E-03 0 0
CUI: C0003635
Disease: Apraxias
Apraxias 		71 0 1 1.8E-03 0 0
CUI: C0030252
Disease: Palpitations
Palpitations 		70 0 1 1.8E-03 0 0
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		68 0 1 1.8E-03 0 0
CUI: C0562350
Disease: Hip circumference
Hip circumference 		68 0 1 1.8E-03 0 0
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests 		67 0 1 1.8E-03 0 0
CUI: C1261430
Disease: Fasting blood sugar result
Fasting blood sugar result 		65 0 1 1.8E-03 0 0
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		64 0 1 1.8E-03 0 0
CUI: C3160712
Disease: Palpitations, CTCAE
Palpitations, CTCAE 		64 0 1 1.8E-03 0 0
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		62 0 1 1.8E-03 0 0
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		62 0 1 1.8E-03 0 0
CUI: C4722327
Disease: PROSTATE CANCER, HEREDITARY, 1
PROSTATE CANCER, HEREDITARY, 1 		62 0 1 1.8E-03 0 0
CUI: C0262404
Disease: Cerebellar degeneration
Cerebellar degeneration 		60 0 1 1.8E-03 0 0
CUI: C4022587
Disease: Fatigable weakness of respiratory muscles
Fatigable weakness of respiratory muscles 		60 0 1 1.8E-03 0 0
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		57 0 1 1.8E-03 0 0
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		56 0 1 1.8E-03 0 0
CUI: C1389113
Disease: Generalized amyotrophy
Generalized amyotrophy 		56 0 1 1.8E-03 0 0
CUI: C0234182
Disease: Gowers sign
Gowers sign 		54 0 1 1.8E-03 0 0
CUI: C0337443
Disease: Sodium measurement
Sodium measurement 		53 0 1 1.9E-03 0 0
CUI: C4024748
Disease: Aplasia/Hypoplasia of the iris
Aplasia/Hypoplasia of the iris 		52 0 1 1.9E-03 0 0