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 1.2E-02 0 0
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		13 18 2 8.0E-02 1 3.0E-02
CUI: C0003079
Disease: Anisocoria
Anisocoria 		4 5 1 5.9E-02 1 5.0E-02
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		9 8 2 9.5E-02 2 9.1E-02
CUI: C0004106
Disease: Astigmatism
Astigmatism 		15 14 1 3.6E-02 1 3.4E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 0 1 1.5E-02 0 0
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		3 117 1 6.2E-02 1 7.6E-03
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		8 0 1 4.8E-02 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 49 3 6.2E-02 1 1.6E-02
CUI: C0006009
Disease: Borderline intellectual disability
Borderline intellectual disability 		3 3 1 6.2E-02 1 5.6E-02
CUI: C0006325
Disease: Bruxism
Bruxism 		4 0 1 5.9E-02 0 0
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		44 0 2 3.6E-02 0 0
CUI: C0008489
Disease: Chorea
Chorea 		11 0 1 4.2E-02 0 0
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		26 34 2 5.3E-02 1 2.0E-02
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		32 61 1 2.2E-02 1 1.3E-02
CUI: C0009806
Disease: Constipation
Constipation 		40 49 3 5.9E-02 2 3.2E-02
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		12 0 1 4.0E-02 0 0
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		13 33 1 3.8E-02 1 2.1E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		35 47 1 2.1E-02 1 1.6E-02
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		31 38 3 7.1E-02 1 1.9E-02
CUI: C0013132
Disease: Drooling
Drooling 		14 14 2 7.7E-02 2 7.1E-02
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		23 25 2 5.7E-02 2 5.1E-02
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		11 13 1 4.2E-02 1 3.6E-02
CUI: C0013421
Disease: Dystonia
Dystonia 		42 61 1 1.8E-02 1 1.3E-02
CUI: C0014544
Disease: Epilepsy
Epilepsy 		32 0 1 2.2E-02 0 0