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: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 14 7.6E-03 1 1.8E-03
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 13 1.1E-02 1 3.4E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 5 8.6E-03 1 5.2E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 4 2.1E-02 1 8.2E-03
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 78 2 7.0E-03 1 1.3E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 2 4.4E-03 1 1.4E-02
CUI: C0009806
Disease: Constipation
Constipation 		424 57 5 1.1E-02 1 1.8E-02
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 1 1.5E-02 1 1.8E-02
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		171 54 3 1.5E-02 1 1.9E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 7 1.2E-02 1 1.9E-02
CUI: C0456070
Disease: Growth delay
Growth delay 		244 40 11 4.2E-02 1 2.5E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 4 8.9E-03 1 2.6E-02
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		181 34 4 2.0E-02 1 2.9E-02
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		22 27 1 2.1E-02 1 3.7E-02
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 25 1 4.8E-03 1 4.0E-02
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		106 20 1 7.6E-03 1 5.0E-02
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 19 5 8.9E-03 1 5.3E-02
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 18 1 3.0E-03 1 5.6E-02
CUI: C2939175
Disease: Meconium ileus
Meconium ileus 		24 16 1 2.0E-02 1 6.2E-02
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		95 15 1 8.3E-03 1 6.7E-02
CUI: C0013132
Disease: Drooling
Drooling 		95 14 1 8.3E-03 1 7.1E-02
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		122 14 1 6.8E-03 1 7.1E-02
CUI: C1867131
Disease: Broad hallux
Broad hallux 		48 14 3 4.2E-02 1 7.1E-02
CUI: C1867873
Disease: Failure to thrive in infancy
Failure to thrive in infancy 		97 12 2 1.6E-02 1 8.3E-02
CUI: C0003578
Disease: Apnea
Apnea 		262 11 1 3.5E-03 1 9.1E-02