Source: ALL
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: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		36 0 1 8.2E-04 0 0
CUI: C1839888
Disease: Decreased activity of the pyruvate dehydrogenase complex
Decreased activity of the pyruvate dehydrogenase complex 		35 0 1 8.2E-04 0 0
CUI: C1846151
Disease: Widened subarachnoid space
Widened subarachnoid space 		35 0 1 8.2E-04 0 0
CUI: C4317124
Disease: Polynesian Bronchiectasis
Polynesian Bronchiectasis 		35 0 1 8.2E-04 0 0
CUI: C1849020
Disease: Short metatarsal
Short metatarsal 		34 0 1 8.2E-04 0 0
CUI: C4024609
Disease: Decreased activity of mitochondrial respiratory chain
Decreased activity of mitochondrial respiratory chain 		34 0 1 8.2E-04 0 0
CUI: C0920296
Disease: Developmental reading disorder
Developmental reading disorder 		33 0 1 8.3E-04 0 0
CUI: C1845251
Disease: Facial hypotonia
Facial hypotonia 		33 0 1 8.3E-04 0 0
CUI: C0266468
Disease: Congenital pontocerebellar hypoplasia
Congenital pontocerebellar hypoplasia 		32 0 1 8.3E-04 0 0
CUI: C4021620
Disease: Clinodactyly of the 2nd toe
Clinodactyly of the 2nd toe 		32 0 1 8.3E-04 0 0
CUI: C4025211
Disease: Abnormal carotid artery morphology
Abnormal carotid artery morphology 		32 0 1 8.3E-04 0 0
CUI: C0038663
Disease: Suicide attempt
Suicide attempt 		31 0 1 8.3E-04 0 0
CUI: C0332878
Disease: Congenital contracture
Congenital contracture 		31 0 1 8.3E-04 0 0
CUI: C2673700
Disease: Brisk reflexes
Brisk reflexes 		31 0 1 8.3E-04 0 0
CUI: C4087347
Disease: Autosomal dominant cerebellar ataxia
Autosomal dominant cerebellar ataxia 		31 0 1 8.3E-04 0 0
CUI: C0151640
Disease: Decreased fertility in males
Decreased fertility in males 		30 0 1 8.3E-04 0 0
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		30 0 1 8.3E-04 0 0
CUI: C1844527
Disease: Clitoral hypoplasia
Clitoral hypoplasia 		30 0 1 8.3E-04 0 0
CUI: C1849172
Disease: Frontal lobe hypoplasia
Frontal lobe hypoplasia 		30 0 1 8.3E-04 0 0
CUI: C1866010
Disease: Proximal muscle weakness in lower limbs
Proximal muscle weakness in lower limbs 		30 0 1 8.3E-04 0 0
CUI: C4021757
Disease: EEG with polyspike wave complexes
EEG with polyspike wave complexes 		30 0 1 8.3E-04 0 0
CUI: C4023676
Disease: Increased nuchal translucency
Increased nuchal translucency 		30 0 1 8.3E-04 0 0
CUI: C0476408
Disease: Reduced vital capacity
Reduced vital capacity 		29 0 1 8.3E-04 0 0
CUI: C1850794
Disease: Proximal amyotrophy
Proximal amyotrophy 		29 0 1 8.3E-04 0 0
CUI: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology 		29 0 1 8.3E-04 0 0