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: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		74 0 1 1.8E-03 0 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		73 0 1 1.8E-03 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 1 1.8E-03 0 0
CUI: C0426848
Disease: Sacral dimple
Sacral dimple 		69 0 1 1.9E-03 0 0
CUI: C1844383
Disease: Recurrent bacterial infection
Recurrent bacterial infection 		69 0 1 1.9E-03 0 0
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		68 0 1 1.9E-03 0 0
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		66 0 1 1.9E-03 0 0
CUI: C0011053
Disease: Deafness
Deafness 		62 0 1 1.9E-03 0 0
CUI: C0231687
Disease: Spastic gait
Spastic gait 		62 0 1 1.9E-03 0 0
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly 		62 0 1 1.9E-03 0 0
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		61 0 1 1.9E-03 0 0
CUI: C0162283
Disease: Nephrogenic Diabetes Insipidus
Nephrogenic Diabetes Insipidus 		60 0 1 1.9E-03 0 0
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		59 0 1 1.9E-03 0 0
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		59 0 1 1.9E-03 0 0
CUI: C1859236
Disease: Prolonged neonatal jaundice
Prolonged neonatal jaundice 		59 0 1 1.9E-03 0 0
CUI: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers 		59 0 1 1.9E-03 0 0
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		58 0 1 1.9E-03 0 0
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		58 0 1 1.9E-03 0 0
CUI: C0235095
Disease: Visual field constriction
Visual field constriction 		57 0 1 1.9E-03 0 0
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		57 0 1 1.9E-03 0 0
CUI: C1302790
Disease: Congenital malformation syndrome
Congenital malformation syndrome 		57 0 1 1.9E-03 0 0
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		57 0 1 1.9E-03 0 0
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		56 0 1 1.9E-03 0 0
CUI: C0518026
Disease: body fat percentage (physical finding)
body fat percentage (physical finding) 		56 0 1 1.9E-03 0 0
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		55 0 1 1.9E-03 0 0