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: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 0 1 1.7E-03 0 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		306 0 1 2.5E-03 0 0
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		272 0 1 2.7E-03 0 0
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		264 0 1 2.7E-03 0 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		241 0 1 2.9E-03 0 0
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		234 0 1 3.0E-03 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 0 1 3.0E-03 0 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 0 1 3.0E-03 0 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 0 1 3.1E-03 0 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		218 0 1 3.1E-03 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 1 3.2E-03 0 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 0 1 3.2E-03 0 0
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		210 0 1 3.2E-03 0 0
CUI: C0152427
Disease: Polydactyly
Polydactyly 		188 0 1 3.4E-03 0 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 0 1 3.5E-03 0 0
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		181 0 1 3.5E-03 0 0
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		180 0 1 3.5E-03 0 0
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease 		179 0 1 3.6E-03 0 0
CUI: C0037763
Disease: Spasm
Spasm 		172 0 1 3.6E-03 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 1 3.7E-03 0 0
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		168 0 1 3.7E-03 0 0
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		433 0 2 3.7E-03 0 0
CUI: C1854494
Disease: Slow progression
Slow progression 		165 0 1 3.7E-03 0 0
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		165 0 1 3.7E-03 0 0
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		163 0 1 3.8E-03 0 0