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: C0035085
Disease: Renal infarction
Renal infarction 		0 1 0 0 1 9.7E-03
CUI: C0863104
Disease: Neck discomfort
Neck discomfort 		0 2 0 0 1 9.6E-03
CUI: C3875381
Disease: Homozygous methylenetetrahydrofolate reductase mutation
Homozygous methylenetetrahydrofolate reductase mutation 		0 1 0 0 1 9.7E-03
CUI: C0337443
Disease: Sodium measurement
Sodium measurement 		53 0 1 4.0E-04 0 0
CUI: C1281901
Disease: Fatty acid measurement
Fatty acid measurement 		50 0 1 4.0E-04 0 0
CUI: C1849488
Disease: Increased serum pyruvate
Increased serum pyruvate 		45 0 1 4.0E-04 0 0
CUI: C2112129
Disease: Postaxial foot polydactyly
Postaxial foot polydactyly 		45 0 1 4.0E-04 0 0
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		44 0 1 4.0E-04 0 0
CUI: C1855672
Disease: Immotile cilia
Immotile cilia 		41 0 1 4.0E-04 0 0
CUI: C2677650
Disease: Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex I 		41 0 1 4.0E-04 0 0
CUI: C4703436
Disease: Impaired nasal mucociliary clearance
Impaired nasal mucociliary clearance 		41 0 1 4.0E-04 0 0
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		39 0 1 4.0E-04 0 0
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		39 0 1 4.0E-04 0 0
CUI: C1839603
Disease: Proximal tubulopathy
Proximal tubulopathy 		37 0 1 4.0E-04 0 0
CUI: C4317124
Disease: Polynesian Bronchiectasis
Polynesian Bronchiectasis 		35 0 1 4.0E-04 0 0
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		33 0 1 4.0E-04 0 0
CUI: C4022748
Disease: Focal T2 hyperintense brainstem lesion
Focal T2 hyperintense brainstem lesion 		33 0 1 4.0E-04 0 0
CUI: C4025616
Disease: CNS hypomyelination
CNS hypomyelination 		32 0 1 4.0E-04 0 0
CUI: C0813217
Disease: Expressionless face
Expressionless face 		31 0 1 4.0E-04 0 0
CUI: C1843637
Disease: Neck flexor weakness
Neck flexor weakness 		30 0 1 4.0E-04 0 0
CUI: C1855676
Disease: Aplasia/Hypoplasia of the cerebellar vermis
Aplasia/Hypoplasia of the cerebellar vermis 		30 0 1 4.0E-04 0 0
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		29 0 1 4.0E-04 0 0
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		26 0 1 4.0E-04 0 0
CUI: C1848172
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A 		26 0 1 4.0E-04 0 0
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		26 0 1 4.0E-04 0 0