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: C0455938
Disease: Large adenoids
Large adenoids 		1 0 1 0.33 0 0
CUI: C1850309
Disease: Mildly elevated creatine phosphokinase
Mildly elevated creatine phosphokinase 		1 0 1 0.33 0 0
CUI: C4225200
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 		1 0 1 0.33 0 0
CUI: C4280681
Disease: Gastrojejunal tube feeding in infancy
Gastrojejunal tube feeding in infancy 		1 0 1 0.33 0 0
CUI: C4280687
Disease: Upper limb muscle hypertrophy
Upper limb muscle hypertrophy 		1 0 1 0.33 0 0
CUI: C4310633
Disease: DYSTONIA 28, CHILDHOOD-ONSET
DYSTONIA 28, CHILDHOOD-ONSET 		1 0 1 0.33 0 0
CUI: C1860216
Disease: Progressive choreoathetosis
Progressive choreoathetosis 		2 0 1 0.25 0 0
CUI: C1861239
Disease: Plantar flexion contractures
Plantar flexion contractures 		2 0 1 0.25 0 0
CUI: C4531037
Disease: Bronchial isomerism
Bronchial isomerism 		2 0 1 0.25 0 0
CUI: C1848459
Disease: High nonceruloplasmin-bound serum copper
High nonceruloplasmin-bound serum copper 		3 0 1 0.20 0 0
CUI: C3874374
Disease: Oncovirus infection
Oncovirus infection 		3 0 1 0.20 0 0
CUI: C3887667
Disease: Retrocollis
Retrocollis 		3 0 1 0.20 0 0
CUI: C4022785
Disease: Iron accumulation in substantia nigra
Iron accumulation in substantia nigra 		3 0 1 0.20 0 0
CUI: C4022786
Disease: Iron accumulation in globus pallidus
Iron accumulation in globus pallidus 		3 0 1 0.20 0 0
CUI: C0154856
Disease: Retinal lattice degeneration
Retinal lattice degeneration 		4 0 1 0.17 0 0
CUI: C1883694
Disease: Intraocular Medulloepithelioma
Intraocular Medulloepithelioma 		4 0 1 0.17 0 0
CUI: C1833431
Disease: Subependymal cysts
Subependymal cysts 		5 0 1 0.14 0 0
CUI: C1859979
Disease: Precocious puberty in males
Precocious puberty in males 		5 0 1 0.14 0 0
CUI: C3149083
Disease: Decreased activity of mitochondrial complex III
Decreased activity of mitochondrial complex III 		5 0 1 0.14 0 0
CUI: C4048234
Disease: Undifferentiated spindle cell sarcoma
Undifferentiated spindle cell sarcoma 		5 0 1 0.14 0 0
CUI: C1834664
Disease: Nasal, dysarthic speech
Nasal, dysarthic speech 		6 0 1 0.12 0 0
CUI: C0752198
Disease: Adult-Onset Idiopathic Focal Dystonias
Adult-Onset Idiopathic Focal Dystonias 		7 0 1 0.11 0 0
CUI: C0752199
Disease: Adult-Onset Idiopathic Torsion Dystonias
Adult-Onset Idiopathic Torsion Dystonias 		7 0 1 0.11 0 0
CUI: C0752200
Disease: Autosomal Dominant Familial Dystonia
Autosomal Dominant Familial Dystonia 		7 0 1 0.11 0 0
CUI: C0752201
Disease: Autosomal Recessive Familial Dystonia
Autosomal Recessive Familial Dystonia 		7 0 1 0.11 0 0