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 1.4E-02 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		9 14 1 1.9E-02 3 1.6E-02
CUI: C0002871
Disease: Anemia
Anemia 		11 14 1 1.8E-02 1 5.4E-03
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		2 135 2 4.4E-02 2 6.6E-03
CUI: C0004239
Disease: Atrial Flutter
Atrial Flutter 		2 0 2 4.4E-02 0 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 69 1 1.0E-02 1 4.2E-03
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 49 1 1.2E-02 1 4.5E-03
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		43 443 22 0.33 32 5.5E-02
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		29 468 16 0.28 36 6.0E-02
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		6 0 4 8.5E-02 0 0
CUI: C0007279
Disease: Carotid Body Paraganglioma
Carotid Body Paraganglioma 		1 0 1 2.2E-02 0 0
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome 		1 3 1 2.2E-02 2 1.2E-02
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		44 58 2 2.3E-02 1 4.4E-03
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		15 0 1 1.7E-02 0 0
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		24 0 1 1.5E-02 0 0
CUI: C0008031
Disease: Chest Pain
Chest Pain 		4 5 2 4.3E-02 1 5.7E-03
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		32 61 2 2.7E-02 1 4.3E-03
CUI: C0009806
Disease: Constipation
Constipation 		40 0 1 1.2E-02 0 0
CUI: C0010200
Disease: Coughing
Coughing 		6 0 1 2.0E-02 0 0
CUI: C0011071
Disease: Sudden death
Sudden death 		4 3 2 4.3E-02 1 5.7E-03
CUI: C0013132
Disease: Drooling
Drooling 		14 0 1 1.7E-02 0 0
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		1 151 1 2.2E-02 1 3.1E-03
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		23 0 1 1.5E-02 0 0
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		9 0 1 1.9E-02 0 0
CUI: C0013404
Disease: Dyspnea
Dyspnea 		18 0 5 8.6E-02 0 0