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: C4317146
Disease: Acid reflux
Acid reflux 		50 58 7 5.9E-02 3 4.7E-02
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack 		143 6 12 5.8E-02 2 0.15
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		71 0 8 5.8E-02 0 0
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		205 0 15 5.7E-02 0 0
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		94 9 9 5.6E-02 1 5.9E-02
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		57 0 7 5.6E-02 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 54 5.5E-02 1 5.8E-03
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		156 25 12 5.5E-02 1 3.0E-02
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		535 0 31 5.4E-02 0 0
CUI: C0973461
Disease: Dysphasia
Dysphasia 		63 0 7 5.3E-02 0 0
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		300 32 19 5.3E-02 4 0.11
CUI: C0006325
Disease: Bruxism
Bruxism 		24 0 5 5.3E-02 0 0
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		46 0 6 5.2E-02 0 0
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		27 0 5 5.2E-02 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 15 5.1E-02 1 1.3E-02
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		192 0 13 5.1E-02 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 55 5.1E-02 0 0
CUI: C0860609
Disease: Inappropriate crying
Inappropriate crying 		8 2 4 5.1E-02 1 1.0E-01
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		53 0 6 4.9E-02 0 0
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		160 0 11 4.9E-02 0 0
CUI: C0149958
Disease: Complex partial seizures
Complex partial seizures 		140 0 10 4.9E-02 0 0
CUI: C0432103
Disease: Submucous cleft of hard palate
Submucous cleft of hard palate 		55 0 6 4.8E-02 0 0
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		142 0 10 4.8E-02 0 0
CUI: C0598275
Disease: Diffuse cerebral atrophy
Diffuse cerebral atrophy 		34 0 5 4.8E-02 0 0
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae 		79 0 7 4.8E-02 0 0