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: C0000737
Disease: Abdominal Pain
Abdominal Pain 		9 0 1 2.2E-02 0 0
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		2 0 1 2.6E-02 0 0
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		1 0 1 2.7E-02 0 0
CUI: C0002418
Disease: Amblyopia
Amblyopia 		17 0 2 3.8E-02 0 0
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		9 0 1 2.2E-02 0 0
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		3 0 1 2.6E-02 0 0
CUI: C0004045
Disease: Asphyxia Neonatorum
Asphyxia Neonatorum 		4 0 1 2.5E-02 0 0
CUI: C0004096
Disease: Asthma
Asthma 		18 0 1 1.9E-02 0 0
CUI: C0004106
Disease: Astigmatism
Astigmatism 		15 0 1 2.0E-02 0 0
CUI: C0006009
Disease: Borderline intellectual disability
Borderline intellectual disability 		3 0 1 2.6E-02 0 0
CUI: C0006157
Disease: Breech Presentation
Breech Presentation 		10 0 1 2.2E-02 0 0
CUI: C0006664
Disease: Calcinosis cutis
Calcinosis cutis 		1 0 1 2.7E-02 0 0
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		15 0 3 6.1E-02 0 0
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		3 0 2 5.3E-02 0 0
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		43 0 1 1.3E-02 0 0
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		15 0 2 4.0E-02 0 0
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		11 0 1 2.1E-02 0 0
CUI: C0009806
Disease: Constipation
Constipation 		40 0 1 1.3E-02 0 0
CUI: C0010051
Disease: Coronary Aneurysm
Coronary Aneurysm 		1 0 1 2.7E-02 0 0
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		13 0 2 4.2E-02 0 0
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		6 0 1 2.4E-02 0 0
CUI: C0011981
Disease: Diaphragmatic Eventration
Diaphragmatic Eventration 		6 0 1 2.4E-02 0 0
CUI: C0012569
Disease: Diplopia
Diplopia 		5 0 1 2.4E-02 0 0
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		23 0 1 1.7E-02 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		34 0 1 1.4E-02 0 0