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: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 86 0.11 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 0 74 0.11 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 0 66 0.11 0 0
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		584 0 100 0.11 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 0 80 0.11 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 118 0.11 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 118 0.11 0 0
CUI: C0004763
Disease: Barrett Esophagus
Barrett Esophagus 		478 60 89 0.11 8 7.7E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 123 0.11 1 6.8E-03
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 112 0.11 1 7.6E-03
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		1112 0 149 0.11 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 0 96 0.10 0 0
CUI: C0036572
Disease: Seizures
Seizures 		2152 0 245 0.10 0 0
CUI: C0086437
Disease: Joint laxity
Joint laxity 		224 0 63 0.10 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 86 0.10 0 0
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		533 0 90 0.10 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 80 0.10 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 238 0.10 1 4.8E-03
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 94 1.0E-01 1 7.8E-03
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		508 0 85 9.8E-02 0 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		127 0 51 9.8E-02 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 54 9.7E-02 0 0
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 0 63 9.7E-02 0 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 0 56 9.7E-02 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 0 90 9.6E-02 0 0