Source: CLINVAR ×
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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 0 3 1.1E-02 0 0
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		13 0 1 2.0E-02 0 0
CUI: C0002418
Disease: Amblyopia
Amblyopia 		17 0 1 1.9E-02 0 0
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		5 0 1 2.4E-02 0 0
CUI: C0003079
Disease: Anisocoria
Anisocoria 		4 0 1 2.5E-02 0 0
CUI: C0003635
Disease: Apraxias
Apraxias 		6 0 1 2.4E-02 0 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 69 7 8.3E-02 2 1.2E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 0 1 1.4E-02 0 0
CUI: C0006009
Disease: Borderline intellectual disability
Borderline intellectual disability 		3 0 1 2.6E-02 0 0
CUI: C0006325
Disease: Bruxism
Bruxism 		4 0 1 2.5E-02 0 0
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		44 58 5 6.6E-02 2 1.3E-02
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		15 19 1 2.0E-02 1 8.9E-03
CUI: C0008489
Disease: Chorea
Chorea 		11 0 1 2.1E-02 0 0
CUI: C0009806
Disease: Constipation
Constipation 		40 49 3 4.1E-02 1 7.0E-03
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		12 17 4 8.9E-02 2 1.8E-02
CUI: C0011071
Disease: Sudden death
Sudden death 		4 0 2 5.1E-02 0 0
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		31 38 1 1.5E-02 1 7.6E-03
CUI: C0011175
Disease: Dehydration
Dehydration 		2 0 1 2.6E-02 0 0
CUI: C0013132
Disease: Drooling
Drooling 		14 0 1 2.0E-02 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		34 42 3 4.4E-02 1 7.4E-03
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		11 0 1 2.1E-02 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		42 61 2 2.6E-02 1 6.5E-03
CUI: C0013528
Disease: Echolalia
Echolalia 		2 2 1 2.6E-02 1 1.1E-02
CUI: C0014544
Disease: Epilepsy
Epilepsy 		32 36 2 3.0E-02 1 7.8E-03
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		8 0 4 9.8E-02 0 0