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: C0018520
Disease: Halitosis
Halitosis 		48 0 1 8.3E-04 0 0
CUI: C4024926
Disease: Focal T2 hyperintense basal ganglia lesion
Focal T2 hyperintense basal ganglia lesion 		46 0 1 8.3E-04 0 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		45 0 1 8.3E-04 0 0
CUI: C1849488
Disease: Increased serum pyruvate
Increased serum pyruvate 		45 0 1 8.3E-04 0 0
CUI: C2112129
Disease: Postaxial foot polydactyly
Postaxial foot polydactyly 		45 0 1 8.3E-04 0 0
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		43 0 1 8.3E-04 0 0
CUI: C4021792
Disease: Abnormality of the clavicle
Abnormality of the clavicle 		42 0 1 8.3E-04 0 0
CUI: C1855672
Disease: Immotile cilia
Immotile cilia 		41 0 1 8.3E-04 0 0
CUI: C1858127
Disease: Limb-girdle muscle weakness
Limb-girdle muscle weakness 		41 0 1 8.3E-04 0 0
CUI: C1858729
Disease: Decreased motor nerve conduction velocity
Decreased motor nerve conduction velocity 		41 0 1 8.3E-04 0 0
CUI: C1859470
Disease: Large basal ganglia
Large basal ganglia 		41 0 1 8.3E-04 0 0
CUI: C3278975
Disease: Attenuation of retinal blood vessels
Attenuation of retinal blood vessels 		41 0 1 8.3E-04 0 0
CUI: C4023687
Disease: EEG with multifocal slow activity
EEG with multifocal slow activity 		41 0 1 8.3E-04 0 0
CUI: C4703436
Disease: Impaired nasal mucociliary clearance
Impaired nasal mucociliary clearance 		41 0 1 8.3E-04 0 0
CUI: C0085606
Disease: Urgency of micturition
Urgency of micturition 		40 0 1 8.3E-04 0 0
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		40 0 1 8.3E-04 0 0
CUI: C4021608
Disease: Shortening of all distal phalanges of the fingers
Shortening of all distal phalanges of the fingers 		40 0 1 8.3E-04 0 0
CUI: C1288283
Disease: Atrophoderma maculatum
Atrophoderma maculatum 		39 0 1 8.3E-04 0 0
CUI: C2749675
Disease: Cortical gyral simplification
Cortical gyral simplification 		39 0 1 8.3E-04 0 0
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		39 0 1 8.3E-04 0 0
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		39 0 1 8.3E-04 0 0
CUI: C0239399
Disease: Short extremities
Short extremities 		38 0 1 8.3E-04 0 0
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		38 0 1 8.3E-04 0 0
CUI: C0038238
Disease: Steatorrhea
Steatorrhea 		37 0 1 8.3E-04 0 0
CUI: C0236773
Disease: Depressed bipolar I disorder
Depressed bipolar I disorder 		37 0 1 8.3E-04 0 0