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: C0085666
Disease: Spider nevus
Spider nevus 		0 2 0 0 2 0.20
CUI: C0268275
Disease: Tay-Sachs Disease, AB Variant
Tay-Sachs Disease, AB Variant 		0 7 0 0 1 6.2E-02
CUI: C1837217
Disease: Cleft lip, isolated
Cleft lip, isolated 		0 2 0 0 1 9.1E-02
CUI: C1855849
Disease: Bartter syndrome, antenatal , type 2
Bartter syndrome, antenatal , type 2 		0 14 0 0 1 4.3E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 0 1 1.5E-03 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 1 1.9E-03 0 0
CUI: C1854301
Disease: Motor delay
Motor delay 		384 0 1 2.0E-03 0 0
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		653 0 2 2.6E-03 0 0
CUI: C0021704
Disease: Intelligence
Intelligence 		645 0 2 2.7E-03 0 0
CUI: C1305855
Disease: Body mass index
Body mass index 		1014 0 3 2.7E-03 0 0
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		264 0 1 2.7E-03 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 0 1 2.8E-03 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 0 1 2.8E-03 0 0
CUI: C0456070
Disease: Growth delay
Growth delay 		244 0 1 2.8E-03 0 0
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		226 0 1 3.0E-03 0 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 0 1 3.0E-03 0 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		218 0 1 3.1E-03 0 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 0 1 3.1E-03 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 0 2 3.1E-03 0 0
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		210 0 1 3.2E-03 0 0
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		208 0 1 3.2E-03 0 0
CUI: C0234146
Disease: Absent reflex
Absent reflex 		201 0 1 3.2E-03 0 0
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		199 0 1 3.3E-03 0 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		198 0 1 3.3E-03 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 0 2 3.3E-03 0 0