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: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		103 0 1 5.5E-03 0 0
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		43 0 1 8.1E-03 0 0
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		37 0 1 8.5E-03 0 0
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		36 402 1 8.6E-03 1 2.0E-03
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		36 0 1 8.6E-03 0 0
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		32 0 1 8.9E-03 0 0
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		29 0 1 9.2E-03 0 0
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		29 0 1 9.2E-03 0 0
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		28 74 1 9.3E-03 1 6.0E-03
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		28 0 1 9.3E-03 0 0
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		28 0 1 9.3E-03 0 0
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		27 0 1 9.3E-03 0 0
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		27 0 1 9.3E-03 0 0
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		25 0 1 9.5E-03 0 0
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		25 52 1 9.5E-03 1 6.9E-03
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		23 0 1 9.7E-03 0 0
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		22 0 1 9.8E-03 0 0
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		21 0 1 9.9E-03 0 0
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		21 442 1 9.9E-03 1 1.9E-03
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		20 30 1 1.0E-02 1 8.2E-03
CUI: C0018681
Disease: Headache
Headache 		19 0 1 1.0E-02 0 0
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		19 0 1 1.0E-02 0 0
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		19 0 1 1.0E-02 0 0
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		18 0 1 1.0E-02 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		18 0 1 1.0E-02 0 0