Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Hypertrophic obstructive cardiomyopathy
233 90 230 0.41 88 0.14
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
925 294 256 0.21 57 6.5E-02
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
512 509 165 0.18 20 1.8E-02
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
773 243 181 0.16 24 2.8E-02
CUI: C0026848
Disease: Myopathy
Myopathy
634 166 157 0.15 5 6.3E-03
CUI: C0033377
Disease: Ptosis
Ptosis
607 0 153 0.15 0 0
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy
403 67 125 0.15 13 1.9E-02
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
559 111 143 0.15 6 8.1E-03
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
209 21 98 0.15 1 1.5E-03
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
595 57 147 0.15 4 5.8E-03
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
1760 165 282 0.14 9 1.1E-02
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly
267 11 98 0.13 1 1.6E-03
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate
169 0 85 0.13 0 0
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
284 0 98 0.13 0 0
CUI: C0018799
Disease: Heart Diseases
Heart Diseases
537 45 126 0.13 4 5.9E-03
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
1037 21 179 0.13 1 1.5E-03
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
615 42 127 0.12 3 4.5E-03
Sensorineural Hearing Loss (disorder)
783 0 145 0.12 0 0
CUI: C0018801
Disease: Heart failure
Heart failure
1499 201 221 0.12 8 9.7E-03
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
842 0 150 0.12 0 0
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
536 87 117 0.12 4 5.6E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
967 579 160 0.12 3 2.5E-03
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
226 28 82 0.12 1 1.5E-03
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate
87 0 66 0.11 0 0
Cardiomyopathy, Hypertrophic, Familial
83 355 64 0.11 203 0.26