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: C0000731
Disease: Abdomen distended
Abdomen distended 		6 0 1 2.5E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		9 0 1 2.3E-02 0 0
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		1 14 1 2.9E-02 2 3.3E-02
CUI: C0002170
Disease: Alopecia
Alopecia 		5 5 1 2.6E-02 1 1.9E-02
CUI: C0003079
Disease: Anisocoria
Anisocoria 		4 5 1 2.6E-02 1 1.9E-02
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		1 0 1 2.9E-02 0 0
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		3 38 1 2.7E-02 1 1.2E-02
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		2 0 1 2.8E-02 0 0
CUI: C0003537
Disease: Aphasia
Aphasia 		2 2 1 2.8E-02 1 2.0E-02
CUI: C0003578
Disease: Apnea
Apnea 		7 0 1 2.4E-02 0 0
CUI: C0003635
Disease: Apraxias
Apraxias 		6 7 1 2.5E-02 1 1.8E-02
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		9 24 1 2.3E-02 3 4.3E-02
CUI: C0003862
Disease: Arthralgia
Arthralgia 		12 0 1 2.2E-02 0 0
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		16 0 1 2.0E-02 0 0
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		5 0 1 2.6E-02 0 0
CUI: C0006009
Disease: Borderline intellectual disability
Borderline intellectual disability 		3 3 1 2.7E-02 1 2.0E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		28 802 1 1.6E-02 1 1.2E-03
CUI: C0006157
Disease: Breech Presentation
Breech Presentation 		10 11 1 2.3E-02 1 1.7E-02
CUI: C0006325
Disease: Bruxism
Bruxism 		4 0 1 2.6E-02 0 0
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		16 0 1 2.0E-02 0 0
CUI: C0007124
Disease: Noninfiltrating Intraductal Carcinoma
Noninfiltrating Intraductal Carcinoma 		5 4 1 2.6E-02 1 1.9E-02
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		13 0 1 2.1E-02 0 0
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		43 0 1 1.3E-02 0 0
CUI: C0008489
Disease: Chorea
Chorea 		11 0 1 2.2E-02 0 0
CUI: C0008733
Disease: Chylothorax
Chylothorax 		1 0 1 2.9E-02 0 0