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: C0009398
Disease: Color vision defect
Color vision defect 		0 4 0 0 1 3.1E-03
CUI: C0152115
Disease: Lingual-Facial-Buccal Dyskinesia
Lingual-Facial-Buccal Dyskinesia 		0 4 0 0 1 3.1E-03
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		0 31 0 0 1 2.9E-03
CUI: C1299432
Disease: Multi vessel coronary artery disease
Multi vessel coronary artery disease 		0 1 0 0 1 3.2E-03
CUI: C1868512
Disease: Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 		0 2 0 0 1 3.1E-03
CUI: C4694057
Disease: Taq1A POLYMORPHISM
Taq1A POLYMORPHISM 		0 14 0 0 1 3.0E-03
CUI: C1854882
Disease: Absent speech
Absent speech 		232 0 1 1.9E-03 0 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 0 1 1.9E-03 0 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		218 0 1 1.9E-03 0 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 0 1 1.9E-03 0 0
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		208 0 1 2.0E-03 0 0
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 1 2.0E-03 0 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		198 0 1 2.0E-03 0 0
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		197 0 1 2.0E-03 0 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		194 0 1 2.0E-03 0 0
CUI: C0152421
Disease: Macrotia
Macrotia 		188 0 1 2.0E-03 0 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 0 1 2.0E-03 0 0
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		186 65 1 2.0E-03 1 2.6E-03
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		181 0 1 2.1E-03 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 0 1 2.1E-03 0 0
CUI: C0026034
Disease: Microstomia
Microstomia 		172 0 1 2.1E-03 0 0
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		172 0 1 2.1E-03 0 0
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		171 0 1 2.1E-03 0 0
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		169 0 1 2.1E-03 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 1 2.1E-03 0 0