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: C0017979
Disease: Glycosuria
Glycosuria 		53 0 27 0.30 0 0
CUI: C0341703
Disease: Adult Fanconi syndrome
Adult Fanconi syndrome 		32 0 21 0.28 0 0
CUI: C0282201
Disease: Phosphate Diabetes
Phosphate Diabetes 		51 0 19 0.20 0 0
CUI: C4025021
Disease: Increased hepatocellular lipid droplets
Increased hepatocellular lipid droplets 		14 0 12 0.18 0 0
CUI: C4021724
Disease: Cytochrome C oxidase-negative muscle fibers
Cytochrome C oxidase-negative muscle fibers 		24 0 12 0.16 0 0
CUI: C4020730
Disease: Increased intramyocellular lipid droplets
Increased intramyocellular lipid droplets 		27 0 12 0.15 0 0
CUI: C0238621
Disease: Aminoaciduria
Aminoaciduria 		68 0 17 0.15 0 0
CUI: C0342273
Disease: Transient neonatal diabetes mellitus
Transient neonatal diabetes mellitus 		23 0 11 0.14 0 0
CUI: C1859523
Disease: Contractures of the joints of the lower limbs
Contractures of the joints of the lower limbs 		12 0 9 0.13 0 0
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		42 0 12 0.13 0 0
CUI: C0427055
Disease: Facial Paresis
Facial Paresis 		44 0 12 0.12 0 0
CUI: C3278636
Disease: Neonatal insulin-dependent diabetes mellitus
Neonatal insulin-dependent diabetes mellitus 		10 0 8 0.12 0 0
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		20 0 9 0.12 0 0
CUI: C0009421
Disease: Comatose
Comatose 		78 0 15 0.12 0 0
CUI: C0162275
Disease: Ketonuria
Ketonuria 		26 0 9 0.11 0 0
CUI: C1856904
Disease: Reduced pancreatic beta cells
Reduced pancreatic beta cells 		7 0 7 0.11 0 0
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		59 0 12 0.11 0 0
CUI: C0266267
Disease: Congenital hypoplasia of pancreas
Congenital hypoplasia of pancreas 		20 0 8 0.11 0 0
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		65 0 12 0.10 0 0
CUI: C4280765
Disease: Abnormal C-peptide level
Abnormal C-peptide level 		14 0 7 9.9E-02 0 0
CUI: C0546884
Disease: Hypovolemia
Hypovolemia 		37 0 9 9.8E-02 0 0
CUI: C0015624
Disease: Fanconi Syndrome
Fanconi Syndrome 		26 0 8 9.8E-02 0 0
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis 		50 0 10 9.6E-02 0 0
CUI: C1857949
Disease: Prominent metopic ridge
Prominent metopic ridge 		39 0 9 9.6E-02 0 0
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		76 0 12 9.4E-02 0 0