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: C0856975
Disease: Autistic behavior
Autistic behavior 		261 0 1 2.7E-03 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 0 1 2.8E-03 0 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 158 2 2.8E-03 1 5.7E-03
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 2 2.8E-03 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 3 2.8E-03 0 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 1 2.9E-03 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 0 1 3.0E-03 0 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 0 1 3.0E-03 0 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		218 0 1 3.0E-03 0 0
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		217 0 1 3.0E-03 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 1 3.1E-03 0 0
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		213 0 1 3.1E-03 0 0
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		210 0 1 3.1E-03 0 0
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 1 3.1E-03 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 3 3.2E-03 0 0
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		199 0 1 3.2E-03 0 0
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		198 0 1 3.2E-03 0 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		198 0 1 3.2E-03 0 0
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		505 0 2 3.3E-03 0 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		194 0 1 3.3E-03 0 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 0 1 3.3E-03 0 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		190 0 1 3.3E-03 0 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 0 1 3.3E-03 0 0
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		190 75 1 3.3E-03 1 1.1E-02
CUI: C0152427
Disease: Polydactyly
Polydactyly 		188 0 1 3.3E-03 0 0