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: C0349711
Disease: Sialic storage disease
Sialic storage disease 		1 0 1 0.50 0 0
CUI: C1833373
Disease: Inclusion Body Myopathy, Autosomal Recessive
Inclusion Body Myopathy, Autosomal Recessive 		1 0 1 0.50 0 0
CUI: C1963905
Disease: Infantile free sialic acid storage disease
Infantile free sialic acid storage disease 		1 0 1 0.50 0 0
CUI: C2880120
Disease: Echovirus enteritis
Echovirus enteritis 		1 0 1 0.50 0 0
CUI: C2931872
Disease: Free sialic acid storage disease
Free sialic acid storage disease 		1 0 1 0.50 0 0
CUI: C4022470
Disease: Abnormality of the right hemidiaphragm
Abnormality of the right hemidiaphragm 		1 0 1 0.50 0 0
CUI: C0429349
Disease: EMG positive sharp waves
EMG positive sharp waves 		2 0 1 0.33 0 0
CUI: C2938957
Disease: Tumour rupture
Tumour rupture 		4 0 1 0.20 0 0
CUI: C4022169
Disease: EMG: myotonic discharges
EMG: myotonic discharges 		4 0 1 0.20 0 0
CUI: C0342853
Disease: Sialuria
Sialuria 		11 17 2 0.18 2 9.5E-02
CUI: C0239182
Disease: Watery diarrhoea
Watery diarrhoea 		5 0 1 0.17 0 0
CUI: C1851313
Disease: Limited shoulder movement
Limited shoulder movement 		5 0 1 0.17 0 0
CUI: C1862481
Disease: Limited wrist extension
Limited wrist extension 		5 0 1 0.17 0 0
CUI: C4022159
Disease: Muscle fiber inclusion bodies
Muscle fiber inclusion bodies 		5 0 1 0.17 0 0
CUI: C4024612
Disease: Tibialis muscle weakness
Tibialis muscle weakness 		5 0 1 0.17 0 0
CUI: C1864375
Disease: Long hallux
Long hallux 		7 0 1 0.12 0 0
CUI: C0342753
Disease: Glycogen storage disease due to acid maltase deficiency, late-onset
Glycogen storage disease due to acid maltase deficiency, late-onset 		8 0 1 0.11 0 0
CUI: C1836855
Disease: Vacuolated lymphocytes
Vacuolated lymphocytes 		8 0 1 0.11 0 0
CUI: C1853934
Disease: Deposits immunoreactive to beta-amyloid protein
Deposits immunoreactive to beta-amyloid protein 		8 0 1 0.11 0 0
CUI: C2129214
Disease: Loose stool
Loose stool 		8 0 1 0.11 0 0
CUI: C4025785
Disease: Abnormality of the foot musculature
Abnormality of the foot musculature 		8 0 1 0.11 0 0
CUI: C4317149
Disease: Vacuolated Lymphocyte Count
Vacuolated Lymphocyte Count 		8 0 1 0.11 0 0
CUI: C1845052
Disease: AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1
AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1 		10 0 1 9.1E-02 0 0
CUI: C1848200
Disease: SUBCORTICAL BAND HETEROTOPIA, X-LINKED
SUBCORTICAL BAND HETEROTOPIA, X-LINKED 		10 0 1 9.1E-02 0 0
CUI: C1854718
Disease: J-shaped sella turcica
J-shaped sella turcica 		10 0 1 9.1E-02 0 0