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: C0235095
Disease: Visual field constriction
Visual field constriction 		57 0 1 8.0E-04 0 0
CUI: C1842688
Disease: Hypoplasia of the brainstem
Hypoplasia of the brainstem 		55 0 1 8.1E-04 0 0
CUI: C0236664
Disease: Alcohol-Related Disorders
Alcohol-Related Disorders 		54 0 1 8.1E-04 0 0
CUI: C1278049
Disease: Serum gamma-glutamyl transferase measurement
Serum gamma-glutamyl transferase measurement 		54 0 1 8.1E-04 0 0
CUI: C1839546
Disease: Microretrognathia
Microretrognathia 		53 0 1 8.1E-04 0 0
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs 		51 0 1 8.1E-04 0 0
CUI: C0018520
Disease: Halitosis
Halitosis 		48 0 1 8.1E-04 0 0
CUI: C0233844
Disease: Clumsiness
Clumsiness 		48 0 1 8.1E-04 0 0
CUI: C0001916
Disease: Albinism
Albinism 		46 0 1 8.1E-04 0 0
CUI: C1136179
Disease: Hammer Toe
Hammer Toe 		46 0 1 8.1E-04 0 0
CUI: C0008810
Disease: Circadian Rhythms
Circadian Rhythms 		45 0 1 8.1E-04 0 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		45 0 1 8.1E-04 0 0
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness 		44 0 1 8.1E-04 0 0
CUI: C0332615
Disease: Myopathic facies
Myopathic facies 		44 0 1 8.1E-04 0 0
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		44 0 1 8.1E-04 0 0
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		42 0 1 8.1E-04 0 0
CUI: C0234860
Disease: Weak cry
Weak cry 		42 0 1 8.1E-04 0 0
CUI: C1836003
Disease: Facial diplegia
Facial diplegia 		42 0 1 8.1E-04 0 0
CUI: C0429097
Disease: QRS complex feature
QRS complex feature 		41 0 1 8.1E-04 0 0
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 0 1 8.1E-04 0 0
CUI: C1858729
Disease: Decreased motor nerve conduction velocity
Decreased motor nerve conduction velocity 		41 0 1 8.1E-04 0 0
CUI: C3278975
Disease: Attenuation of retinal blood vessels
Attenuation of retinal blood vessels 		41 0 1 8.1E-04 0 0
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		40 0 1 8.1E-04 0 0
CUI: C0085615
Disease: Right bundle branch block
Right bundle branch block 		39 0 1 8.2E-04 0 0
CUI: C0239399
Disease: Short extremities
Short extremities 		38 0 1 8.2E-04 0 0