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: C1859523
Disease: Contractures of the joints of the lower limbs
Contractures of the joints of the lower limbs 		12 0 9 0.17 0 0
CUI: C3278636
Disease: Neonatal insulin-dependent diabetes mellitus
Neonatal insulin-dependent diabetes mellitus 		10 0 8 0.15 0 0
CUI: C0162275
Disease: Ketonuria
Ketonuria 		26 0 9 0.13 0 0
CUI: C4021243
Disease: Abnormality of thalamus morphology
Abnormality of thalamus morphology 		10 0 7 0.13 0 0
CUI: C1858427
Disease: Limited extraocular movements
Limited extraocular movements 		11 0 7 0.13 0 0
CUI: C0342273
Disease: Transient neonatal diabetes mellitus
Transient neonatal diabetes mellitus 		23 0 8 0.12 0 0
CUI: C1856904
Disease: Reduced pancreatic beta cells
Reduced pancreatic beta cells 		7 0 6 0.12 0 0
CUI: C0546884
Disease: Hypovolemia
Hypovolemia 		37 0 9 0.12 0 0
CUI: C1857949
Disease: Prominent metopic ridge
Prominent metopic ridge 		39 0 9 0.11 0 0
CUI: C1832386
Disease: Diabetes Mellitus, Transient Neonatal, 1
Diabetes Mellitus, Transient Neonatal, 1 		12 0 6 0.11 0 0
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		122 14 16 0.10 1 3.7E-02
CUI: C0234649
Disease: Abnormal saccadic eye movement
Abnormal saccadic eye movement 		17 0 6 9.8E-02 0 0
CUI: C1969875
Disease: Beta-cell dysfunction
Beta-cell dysfunction 		6 0 5 9.8E-02 0 0
CUI: C4025043
Disease: Abnormality of the pancreatic islet cells
Abnormality of the pancreatic islet cells 		6 0 5 9.8E-02 0 0
CUI: C0241816
Disease: Global brain atrophy
Global brain atrophy 		41 6 8 9.6E-02 2 0.11
CUI: C0151747
Disease: Renal tubular disorder
Renal tubular disorder 		64 0 10 9.6E-02 0 0
CUI: C4022762
Disease: Elevated brain lactate level by MRS
Elevated brain lactate level by MRS 		7 0 5 9.6E-02 0 0
CUI: C0017979
Disease: Glycosuria
Glycosuria 		53 0 9 9.6E-02 0 0
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		42 0 8 9.5E-02 0 0
CUI: C2750913
Disease: Neuronal loss in basal ganglia
Neuronal loss in basal ganglia 		8 0 5 9.4E-02 0 0
CUI: C0266267
Disease: Congenital hypoplasia of pancreas
Congenital hypoplasia of pancreas 		20 0 6 9.4E-02 0 0
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		20 0 6 9.4E-02 0 0
CUI: C4025711
Disease: Abnormal caudate nucleus morphology
Abnormal caudate nucleus morphology 		9 0 5 9.3E-02 0 0
CUI: C1851959
Disease: Fluctuations in consciousness
Fluctuations in consciousness 		10 0 5 9.1E-02 0 0
CUI: C1969879
Disease: Limb joint contracture
Limb joint contracture 		10 0 5 9.1E-02 0 0