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: C0152419
Disease: Interrupted aortic arch
Interrupted aortic arch 		0 1 0 0 1 3.6E-02
CUI: C2673630
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder)
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder) 		0 2 0 0 1 3.4E-02
CUI: C3280795
Disease: HYPOPLASTIC LEFT HEART SYNDROME 2
HYPOPLASTIC LEFT HEART SYNDROME 2 		0 1 0 0 1 3.6E-02
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: C0008924
Disease: Cleft upper lip
Cleft upper lip 		5 6 1 4.5E-02 1 3.0E-02
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		11 0 1 3.6E-02 0 0
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		10 0 1 3.7E-02 0 0
CUI: C0009806
Disease: Constipation
Constipation 		40 49 1 1.8E-02 1 1.3E-02
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: 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: C0014850
Disease: Esophageal Atresia
Esophageal Atresia 		2 2 1 5.3E-02 1 3.4E-02
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