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 2 1.2E-02 1 4.0E-03
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		9 0 1 6.0E-03 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 29 7.9E-02 2 3.4E-03
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		9 14 2 1.2E-02 1 3.9E-03
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		1 0 1 6.3E-03 0 0
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		13 18 3 1.8E-02 2 7.6E-03
CUI: C0002418
Disease: Amblyopia
Amblyopia 		17 22 5 2.9E-02 5 1.9E-02
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		5 8 2 1.2E-02 1 4.0E-03
CUI: C0002886
Disease: Anemia, Macrocytic
Anemia, Macrocytic 		1 1 1 6.3E-03 1 4.1E-03
CUI: C0003079
Disease: Anisocoria
Anisocoria 		4 0 1 6.1E-03 0 0
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		9 8 6 3.7E-02 5 2.0E-02
CUI: C0003467
Disease: Anxiety
Anxiety 		13 20 2 1.2E-02 1 3.8E-03
CUI: C0003492
Disease: Aortic coarctation
Aortic coarctation 		3 3 3 1.9E-02 1 4.0E-03
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		3 0 1 6.2E-03 0 0
CUI: C0003537
Disease: Aphasia
Aphasia 		2 2 1 6.2E-03 1 4.0E-03
CUI: C0003578
Disease: Apnea
Apnea 		7 7 4 2.5E-02 2 8.0E-03
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0 24 0 0 1 3.7E-03
CUI: C0003803
Disease: Arnold Chiari Malformation
Arnold Chiari Malformation 		3 0 1 6.2E-03 0 0
CUI: C0003862
Disease: Arthralgia
Arthralgia 		12 11 4 2.4E-02 3 1.2E-02
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		16 0 2 1.1E-02 0 0
CUI: C0004096
Disease: Asthma
Asthma 		18 19 4 2.3E-02 4 1.5E-02
CUI: C0004106
Disease: Astigmatism
Astigmatism 		15 14 4 2.3E-02 3 1.2E-02
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		5 0 1 6.1E-03 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		14 17 5 3.0E-02 2 7.7E-03
CUI: C0004158
Disease: Athetosis
Athetosis 		2 0 1 6.2E-03 0 0