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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 0 4 1.6E-02 0 0
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		9 0 1 3.8E-02 0 0
CUI: C0003492
Disease: Aortic coarctation
Aortic coarctation 		3 0 1 5.0E-02 0 0
CUI: C0004096
Disease: Asthma
Asthma 		18 0 1 2.9E-02 0 0
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		28 0 1 2.2E-02 0 0
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		43 0 1 1.7E-02 0 0
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		29 0 1 2.2E-02 0 0
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		6 0 1 4.3E-02 0 0
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		2 0 1 5.3E-02 0 0
CUI: C0008370
Disease: Cholestasis
Cholestasis 		4 0 1 4.8E-02 0 0
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		11 0 1 3.6E-02 0 0
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		43 0 2 3.4E-02 0 0
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		10 0 1 3.7E-02 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		35 0 1 1.9E-02 0 0
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		11 0 1 3.6E-02 0 0
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1 0 1 5.6E-02 0 0
CUI: C0012569
Disease: Diplopia
Diplopia 		5 0 1 4.5E-02 0 0
CUI: C0013069
Disease: Double Outlet Right Ventricle
Double Outlet Right Ventricle 		6 0 4 0.20 0 0
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		23 0 2 5.1E-02 0 0
CUI: C0013404
Disease: Dyspnea
Dyspnea 		18 0 1 2.9E-02 0 0
CUI: C0014544
Disease: Epilepsy
Epilepsy 		32 0 1 2.0E-02 0 0
CUI: C0015644
Disease: Muscular fasciculation
Muscular fasciculation 		1 0 1 5.6E-02 0 0
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		2 0 1 5.3E-02 0 0
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		39 0 1 1.8E-02 0 0
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		4 0 3 0.16 0 0