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: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 0 179 0.14 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 0 146 0.14 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 0 210 0.14 0 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 0 161 0.14 0 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 0 194 0.14 0 0
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		783 0 199 0.14 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 0 140 0.14 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 159 0.14 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 146 0.13 0 0
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		446 0 152 0.13 0 0
CUI: C0042963
Disease: Vomiting
Vomiting 		303 0 133 0.13 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 154 0.13 0 0
CUI: C0002871
Disease: Anemia
Anemia 		847 0 190 0.13 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 129 0.13 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 140 0.13 0 0
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 111 0.12 4 3.1E-02
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 0 124 0.12 0 0
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		560 0 150 0.12 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 107 0.12 0 0
CUI: C0848558
Disease: Hypospadias
Hypospadias 		366 0 128 0.12 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 0 109 0.12 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 131 0.11 0 0
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		536 0 141 0.11 0 0
CUI: C0009806
Disease: Constipation
Constipation 		424 0 128 0.11 0 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 0 131 0.11 0 0