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: C0311394
Disease: Difficulty walking
Difficulty walking 		224 0 1 3.2E-03 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 1 3.2E-03 0 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		219 0 1 3.2E-03 0 0
CUI: C0020608
Disease: Hypodontia
Hypodontia 		218 48 1 3.2E-03 1 1.2E-02
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		218 0 1 3.2E-03 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 3 3.2E-03 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 0 1 3.3E-03 0 0
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		210 0 1 3.3E-03 0 0
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		208 0 1 3.3E-03 0 0
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 1 3.3E-03 0 0
CUI: C0040420
Disease: Tonometry
Tonometry 		206 0 1 3.3E-03 0 0
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		199 0 1 3.4E-03 0 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		198 0 1 3.4E-03 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 2 3.4E-03 0 0
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		197 0 1 3.4E-03 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 3 3.4E-03 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 3 3.4E-03 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 2 3.5E-03 0 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 0 1 3.5E-03 0 0
CUI: C0152421
Disease: Macrotia
Macrotia 		188 0 1 3.6E-03 0 0
CUI: C0152427
Disease: Polydactyly
Polydactyly 		188 0 1 3.6E-03 0 0
CUI: C0740858
Disease: Substance abuse problem
Substance abuse problem 		185 0 1 3.6E-03 0 0
CUI: C1836047
Disease: Long face
Long face 		182 0 1 3.6E-03 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 0 1 3.6E-03 0 0
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		181 0 1 3.6E-03 0 0