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: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		0 31 0 0 3 8.6E-02
CUI: C4540135
Disease: PITUITARY ADENOMA 3, MULTIPLE TYPES
PITUITARY ADENOMA 3, MULTIPLE TYPES 		0 6 0 0 1 8.3E-02
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 1 1.4E-03 0 0
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		168 0 1 1.4E-03 0 0
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		127 0 1 1.5E-03 0 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		112 0 1 1.5E-03 0 0
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		106 0 1 1.6E-03 0 0
CUI: C0337438
Disease: Glucose measurement
Glucose measurement 		89 0 1 1.6E-03 0 0
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level 		89 0 1 1.6E-03 0 0
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement 		82 0 1 1.6E-03 0 0
CUI: C1821417
Disease: RESTING HEART RATE
RESTING HEART RATE 		80 0 1 1.6E-03 0 0
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		76 0 1 1.6E-03 0 0
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		75 0 1 1.6E-03 0 0
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		75 0 1 1.6E-03 0 0
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy 		74 0 1 1.6E-03 0 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		73 0 1 1.6E-03 0 0
CUI: C1844383
Disease: Recurrent bacterial infection
Recurrent bacterial infection 		69 0 1 1.7E-03 0 0
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		67 0 1 1.7E-03 0 0
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests 		67 0 1 1.7E-03 0 0
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		67 0 1 1.7E-03 0 0
CUI: C0231687
Disease: Spastic gait
Spastic gait 		62 0 1 1.7E-03 0 0
CUI: C4022587
Disease: Fatigable weakness of respiratory muscles
Fatigable weakness of respiratory muscles 		60 0 1 1.7E-03 0 0
CUI: C1857640
Disease: Decreased nerve conduction velocity
Decreased nerve conduction velocity 		58 0 1 1.7E-03 0 0
CUI: C0201899
Disease: Aspartate aminotransferase measurement
Aspartate aminotransferase measurement 		57 0 1 1.7E-03 0 0
CUI: C0151636
Disease: Premature ventricular contractions
Premature ventricular contractions 		56 0 1 1.7E-03 0 0