Source: CLINVAR ×
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: C4021803
Disease: Abnormal eyelid morphology
Abnormal eyelid morphology 		3 3 2 0.67 2 0.67
CUI: C0234146
Disease: Absent reflex
Absent reflex 		11 16 2 0.18 2 0.12
CUI: C0702166
Disease: Acne
Acne 		3 4 2 0.67 2 0.50
CUI: C1858033
Disease: Asymmetry of the thorax
Asymmetry of the thorax 		4 4 2 0.50 2 0.50
CUI: C0004239
Disease: Atrial Flutter
Atrial Flutter 		2 2 2 1.00 2 1.00
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		37 0 2 5.4E-02 0 0
CUI: C0281788
Disease: Biventricular hypertrophy
Biventricular hypertrophy 		3 0 2 0.67 0 0
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		19 0 2 0.11 0 0
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		45 0 2 4.4E-02 0 0
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		43 0 2 4.7E-02 0 0
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		2 0 2 1.00 0 0
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S 		9 0 2 0.22 0 0
CUI: C1861065
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 		2 0 2 1.00 0 0
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		4 0 2 0.50 0 0
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block 		2 0 2 1.00 0 0
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		12 0 2 0.17 0 0
CUI: C0079352
Disease: Congenital torticollis
Congenital torticollis 		6 6 2 0.33 2 0.33
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		8 0 2 0.25 0 0
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass 		11 12 2 0.18 2 0.17
CUI: C3277184
Disease: Decreased patellar reflex
Decreased patellar reflex 		2 0 2 1.00 0 0
CUI: C0241237
Disease: Difficulty standing
Difficulty standing 		8 14 2 0.25 2 0.14
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		13 0 2 0.15 0 0
CUI: C1856872
Disease: Down-sloping shoulders
Down-sloping shoulders 		4 4 2 0.50 2 0.50
CUI: C0013404
Disease: Dyspnea
Dyspnea 		18 21 2 0.11 2 9.5E-02
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		13 16 2 0.15 2 0.12