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: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 1 1.9E-03 0 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 1 2.3E-03 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 0 1 2.4E-03 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 0 1 2.4E-03 0 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 0 1 2.4E-03 0 0
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		271 0 1 2.5E-03 0 0
CUI: C1314691
Disease: Age at menarche
Age at menarche 		267 0 1 2.5E-03 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 0 1 2.6E-03 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 0 1 2.6E-03 0 0
CUI: C0456070
Disease: Growth delay
Growth delay 		244 0 1 2.7E-03 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 0 1 2.8E-03 0 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 0 1 2.8E-03 0 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 0 1 2.8E-03 0 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		218 0 1 2.9E-03 0 0
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		217 0 1 2.9E-03 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 1 2.9E-03 0 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 0 1 2.9E-03 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 1 2.9E-03 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 0 2 2.9E-03 0 0
CUI: C0234146
Disease: Absent reflex
Absent reflex 		201 0 1 3.0E-03 0 0
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		199 0 1 3.0E-03 0 0
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		194 0 1 3.1E-03 0 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 0 1 3.1E-03 0 0
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		192 0 1 3.1E-03 0 0
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		186 0 1 3.2E-03 0 0