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: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		118 0 1 8.5E-03 0 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 0 1 7.7E-03 0 0
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		137 0 1 7.3E-03 0 0
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers 		160 0 1 6.3E-03 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 1 6.2E-03 0 0
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		198 0 1 5.1E-03 0 0
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 1 4.8E-03 0 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		212 0 1 4.7E-03 0 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 0 1 4.4E-03 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 0 1 4.3E-03 0 0
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 0 1 3.8E-03 0 0
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		285 0 1 3.5E-03 0 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		306 0 1 3.3E-03 0 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		321 0 1 3.1E-03 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 0 1 3.0E-03 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 1 2.4E-03 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 1 2.4E-03 0 0
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		420 0 1 2.4E-03 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 1 2.3E-03 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 0 1 2.3E-03 0 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 0 1 2.2E-03 0 0
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		533 0 1 1.9E-03 0 0
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		545 0 1 1.8E-03 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 1 1.7E-03 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 1 1.2E-03 0 0