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: C0036836
Disease: Serum total protein measurement
Serum total protein measurement 		0 6 0 0 1 1.3E-02
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 1 1.8E-03 0 0
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		169 0 1 1.8E-03 0 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		149 0 1 1.9E-03 0 0
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		146 0 1 1.9E-03 0 0
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		143 0 1 1.9E-03 0 0
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		140 0 1 1.9E-03 0 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 0 1 1.9E-03 0 0
CUI: C0241355
Disease: Small testicle
Small testicle 		129 0 1 2.0E-03 0 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 1 2.0E-03 0 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		123 0 1 2.0E-03 0 0
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		118 0 1 2.0E-03 0 0
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		114 0 1 2.0E-03 0 0
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		112 0 1 2.0E-03 0 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		112 0 1 2.0E-03 0 0
CUI: C0431447
Disease: Synophrys
Synophrys 		111 0 1 2.0E-03 0 0
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 0 1 2.0E-03 0 0
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		106 0 1 2.0E-03 0 0
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		105 0 1 2.0E-03 0 0
CUI: C0424574
Disease: Duration of sleep
Duration of sleep 		104 0 1 2.1E-03 0 0
CUI: C0424230
Disease: Motor retardation
Motor retardation 		98 0 1 2.1E-03 0 0
CUI: C0013132
Disease: Drooling
Drooling 		95 0 1 2.1E-03 0 0
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		95 0 1 2.1E-03 0 0
CUI: C0009398
Disease: Color vision defect
Color vision defect 		94 0 1 2.1E-03 0 0
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		93 0 1 2.1E-03 0 0