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 6 4 1.7E-02 4 9.5E-03
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		9 11 3 1.2E-02 3 7.1E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 42 9.7E-02 1 1.3E-03
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		2 0 1 4.2E-03 0 0
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1 9 1 4.2E-03 1 2.4E-03
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		9 14 3 1.2E-02 3 7.0E-03
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		2 2 1 4.2E-03 1 2.4E-03
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		13 18 12 5.0E-02 10 2.4E-02
CUI: C0002170
Disease: Alopecia
Alopecia 		5 0 1 4.1E-03 0 0
CUI: C0002171
Disease: Alopecia Areata
Alopecia Areata 		1 0 1 4.2E-03 0 0
CUI: C0002418
Disease: Amblyopia
Amblyopia 		17 22 5 2.0E-02 7 1.6E-02
CUI: C0002871
Disease: Anemia
Anemia 		11 0 1 4.0E-03 0 0
CUI: C0002886
Disease: Anemia, Macrocytic
Anemia, Macrocytic 		1 1 1 4.2E-03 1 2.4E-03
CUI: C0002940
Disease: Aneurysm
Aneurysm 		12 0 2 8.1E-03 0 0
CUI: C0002962
Disease: Angina Pectoris
Angina Pectoris 		2 51 1 4.2E-03 1 2.1E-03
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		1 88 1 4.2E-03 1 2.0E-03
CUI: C0002994
Disease: Angioedema
Angioedema 		6 0 1 4.1E-03 0 0
CUI: C0003079
Disease: Anisocoria
Anisocoria 		4 0 1 4.2E-03 0 0
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		9 8 4 1.7E-02 2 4.7E-03
CUI: C0003467
Disease: Anxiety
Anxiety 		13 20 5 2.0E-02 3 6.9E-03
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		1 0 1 4.2E-03 0 0
CUI: C0003492
Disease: Aortic coarctation
Aortic coarctation 		3 0 2 8.4E-03 0 0
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		2 0 1 4.2E-03 0 0
CUI: C0003537
Disease: Aphasia
Aphasia 		2 2 1 4.2E-03 1 2.4E-03
CUI: C0003578
Disease: Apnea
Apnea 		7 7 4 1.7E-02 3 7.1E-03