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 		237 350 5 1.8E-02 1 1.3E-03
CUI: C0002962
Disease: Angina Pectoris
Angina Pectoris 		2 0 1 2.3E-02 0 0
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		16 0 1 1.7E-02 0 0
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		2 0 1 2.3E-02 0 0
CUI: C0004239
Disease: Atrial Flutter
Atrial Flutter 		2 0 2 4.7E-02 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 49 2 2.6E-02 1 2.0E-03
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		29 468 13 0.22 6 6.6E-03
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		6 0 3 6.5E-02 0 0
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		15 0 1 1.8E-02 0 0
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		24 0 2 3.1E-02 0 0
CUI: C0008031
Disease: Chest Pain
Chest Pain 		4 0 2 4.4E-02 0 0
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		31 0 1 1.4E-02 0 0
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		32 61 1 1.4E-02 1 2.0E-03
CUI: C0009806
Disease: Constipation
Constipation 		40 0 1 1.2E-02 0 0
CUI: C0010200
Disease: Coughing
Coughing 		6 0 1 2.1E-02 0 0
CUI: C0011071
Disease: Sudden death
Sudden death 		4 0 2 4.4E-02 0 0
CUI: C0013132
Disease: Drooling
Drooling 		14 0 1 1.8E-02 0 0
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		1 0 1 2.3E-02 0 0
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		23 25 1 1.5E-02 1 2.1E-03
CUI: C0013404
Disease: Dyspnea
Dyspnea 		18 0 5 8.9E-02 0 0
CUI: C0013481
Disease: Ebstein Anomaly
Ebstein Anomaly 		2 0 1 2.3E-02 0 0
CUI: C0013595
Disease: Eczema
Eczema 		15 0 1 1.8E-02 0 0
CUI: C0014877
Disease: Esotropia
Esotropia 		33 0 1 1.3E-02 0 0
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		7 0 1 2.0E-02 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		26 0 1 1.5E-02 0 0