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: C0152115
Disease: Lingual-Facial-Buccal Dyskinesia
Lingual-Facial-Buccal Dyskinesia 		0 4 0 0 1 9.1E-02
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement 		0 568 0 0 1 1.7E-03
CUI: C1406659
Disease: Symptomatic epilepsy
Symptomatic epilepsy 		0 9 0 0 1 6.2E-02
CUI: C1611184
Disease: Calcification of coronary artery
Calcification of coronary artery 		0 205 0 0 1 4.7E-03
CUI: C4016963
Disease: HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO
HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO 		0 3 0 0 1 1.0E-01
CUI: C4694057
Disease: Taq1A POLYMORPHISM
Taq1A POLYMORPHISM 		0 14 0 0 2 1.0E-01
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 0 1 1.4E-03 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 0 1 1.6E-03 0 0
CUI: C0042834
Disease: Vital capacity
Vital capacity 		430 0 1 1.7E-03 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 1 1.8E-03 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 0 1 2.2E-03 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 2 2.3E-03 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 0 1 2.3E-03 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 0 1 2.4E-03 0 0
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		269 0 1 2.4E-03 0 0
CUI: C1314691
Disease: Age at menarche
Age at menarche 		267 0 1 2.4E-03 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 0 1 2.5E-03 0 0
CUI: C0021704
Disease: Intelligence
Intelligence 		645 0 2 2.5E-03 0 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 0 1 2.7E-03 0 0
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		226 0 1 2.7E-03 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 2 2.7E-03 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 1 2.7E-03 0 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		219 0 1 2.8E-03 0 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		218 0 1 2.8E-03 0 0
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		217 0 1 2.8E-03 0 0