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: C0265240
Disease: Goldenhar Syndrome
Goldenhar Syndrome 		0 12 0 0 1 5.1E-03
CUI: C0456070
Disease: Growth delay
Growth delay 		244 0 1 2.4E-03 0 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 0 1 2.5E-03 0 0
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		223 0 1 2.5E-03 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 0 1 2.6E-03 0 0
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		194 0 1 2.7E-03 0 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 0 1 2.7E-03 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 0 1 2.8E-03 0 0
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		172 0 1 2.9E-03 0 0
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		169 0 1 2.9E-03 0 0
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		165 0 1 3.0E-03 0 0
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy 		155 0 1 3.0E-03 0 0
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign 		155 0 1 3.0E-03 0 0
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		140 0 1 3.2E-03 0 0
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		137 0 1 3.2E-03 0 0
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia 		131 0 1 3.3E-03 0 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 0 1 3.3E-03 0 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 1 3.3E-03 0 0
CUI: C1629609
Disease: Age at menopause
Age at menopause 		129 0 1 3.3E-03 0 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		129 0 1 3.3E-03 0 0
CUI: C0039075
Disease: Syndactyly
Syndactyly 		127 0 1 3.3E-03 0 0
CUI: C0239998
Disease: Recurrent infections
Recurrent infections 		127 0 1 3.3E-03 0 0
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		125 0 1 3.4E-03 0 0
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		123 0 1 3.4E-03 0 0
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		122 0 1 3.4E-03 0 0