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: C3806402
Disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0 23 0 0 1 7.8E-03
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		6 0 1 1.1E-02 0 0
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		2 4 1 1.1E-02 2 1.9E-02
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		13 0 1 1.0E-02 0 0
CUI: C0002171
Disease: Alopecia Areata
Alopecia Areata 		1 0 1 1.1E-02 0 0
CUI: C0002940
Disease: Aneurysm
Aneurysm 		12 0 1 1.0E-02 0 0
CUI: C0003076
Disease: Aniridia
Aniridia 		2 0 1 1.1E-02 0 0
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		1 0 1 1.1E-02 0 0
CUI: C0003492
Disease: Aortic coarctation
Aortic coarctation 		3 0 1 1.1E-02 0 0
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		3 0 1 1.1E-02 0 0
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		2 0 1 1.1E-02 0 0
CUI: C0003537
Disease: Aphasia
Aphasia 		2 2 1 1.1E-02 1 9.3E-03
CUI: C0003578
Disease: Apnea
Apnea 		7 0 1 1.1E-02 0 0
CUI: C0003635
Disease: Apraxias
Apraxias 		6 0 1 1.1E-02 0 0
CUI: C0003803
Disease: Arnold Chiari Malformation
Arnold Chiari Malformation 		3 4 1 1.1E-02 2 1.9E-02
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		16 25 1 9.7E-03 1 7.7E-03
CUI: C0004045
Disease: Asphyxia Neonatorum
Asphyxia Neonatorum 		4 0 1 1.1E-02 0 0
CUI: C0004096
Disease: Asthma
Asthma 		18 0 1 9.5E-03 0 0
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		5 0 1 1.1E-02 0 0
CUI: C0004158
Disease: Athetosis
Athetosis 		2 0 1 1.1E-02 0 0
CUI: C0004604
Disease: Back Pain
Back Pain 		2 3 1 1.1E-02 2 1.9E-02
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		5 0 1 1.1E-02 0 0
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		5 4 1 1.1E-02 1 9.2E-03
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		13 0 1 1.0E-02 0 0
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		6 15 1 1.1E-02 1 8.3E-03