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: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		0 16 0 0 1 5.3E-02
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 1 1.7E-03 0 0
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		160 0 1 1.8E-03 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 1 1.8E-03 0 0
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		147 0 1 1.8E-03 0 0
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		143 0 1 1.8E-03 0 0
CUI: C0014877
Disease: Esotropia
Esotropia 		121 0 1 1.9E-03 0 0
CUI: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism 		119 0 1 1.9E-03 0 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		115 0 1 1.9E-03 0 0
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		112 0 1 1.9E-03 0 0
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip 		105 0 1 2.0E-03 0 0
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		104 0 1 2.0E-03 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 0 1 2.0E-03 0 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		104 0 1 2.0E-03 0 0
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		101 0 1 2.0E-03 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 0 1 2.0E-03 0 0
CUI: C0424230
Disease: Motor retardation
Motor retardation 		98 0 1 2.0E-03 0 0
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		96 0 1 2.0E-03 0 0
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		96 0 1 2.0E-03 0 0
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		92 0 1 2.0E-03 0 0
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement 		90 0 1 2.0E-03 0 0
CUI: C0337438
Disease: Glucose measurement
Glucose measurement 		89 0 1 2.0E-03 0 0
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level 		89 0 1 2.0E-03 0 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		85 0 1 2.0E-03 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 1 2.0E-03 0 0