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: C0341479
Disease: Infected pancreatic necrosis
Infected pancreatic necrosis 		0 2 0 0 2 1.8E-02
CUI: C2697788
Disease: Interleukin 8 Measurement
Interleukin 8 Measurement 		0 5 0 0 1 8.8E-03
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		73 0 1 1.0E-03 0 0
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		67 0 1 1.0E-03 0 0
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		67 0 1 1.0E-03 0 0
CUI: C3501844
Disease: Familial Nonmedullary Thyroid Cancer
Familial Nonmedullary Thyroid Cancer 		66 2 1 1.0E-03 1 9.0E-03
CUI: C1847879
Disease: X-linked dominant inheritance
X-linked dominant inheritance 		65 0 1 1.0E-03 0 0
CUI: C1857640
Disease: Decreased nerve conduction velocity
Decreased nerve conduction velocity 		58 0 1 1.0E-03 0 0
CUI: C0431659
Disease: Hypoplasia of scrotum
Hypoplasia of scrotum 		57 0 1 1.0E-03 0 0
CUI: C1858036
Disease: Periorbital fullness
Periorbital fullness 		57 0 1 1.0E-03 0 0
CUI: C0040485
Disease: Torticollis
Torticollis 		55 0 1 1.0E-03 0 0
CUI: C0234182
Disease: Gowers sign
Gowers sign 		54 0 1 1.0E-03 0 0
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement 		53 92 1 1.0E-03 1 5.0E-03
CUI: C0345354
Disease: Radial polydactyly
Radial polydactyly 		51 0 1 1.0E-03 0 0
CUI: C0427144
Disease: Toe-walking gait
Toe-walking gait 		50 0 1 1.0E-03 0 0
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		50 0 1 1.0E-03 0 0
CUI: C0018520
Disease: Halitosis
Halitosis 		48 0 1 1.0E-03 0 0
CUI: C0032987
Disease: Ectopic Pregnancy
Ectopic Pregnancy 		48 0 1 1.0E-03 0 0
CUI: C0271385
Disease: Horizontal Nystagmus
Horizontal Nystagmus 		48 0 1 1.0E-03 0 0
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		46 0 1 1.0E-03 0 0
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		46 0 1 1.0E-03 0 0
CUI: C0008810
Disease: Circadian Rhythms
Circadian Rhythms 		45 0 1 1.0E-03 0 0
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		45 0 1 1.0E-03 0 0
CUI: C0332615
Disease: Myopathic facies
Myopathic facies 		44 0 1 1.0E-03 0 0
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		44 0 1 1.0E-03 0 0