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: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		3 95 3 8.1E-02 2 1.3E-02
CUI: C1836767
Disease: Proximal lower limb amyotrophy
Proximal lower limb amyotrophy 		3 4 3 8.1E-02 1 1.5E-02
CUI: C1858127
Disease: Limb-girdle muscle weakness
Limb-girdle muscle weakness 		3 3 3 8.1E-02 1 1.5E-02
CUI: C4225636
Disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT 		3 0 3 8.1E-02 0 0
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		31 38 5 7.9E-02 4 4.1E-02
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		31 34 5 7.9E-02 3 3.2E-02
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		4 4 3 7.9E-02 3 4.7E-02
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		45 172 6 7.9E-02 1 4.3E-03
CUI: C4021727
Disease: EMG: neuropathic changes
EMG: neuropathic changes 		4 5 3 7.9E-02 1 1.5E-02
CUI: C0013404
Disease: Dyspnea
Dyspnea 		18 21 4 7.8E-02 2 2.4E-02
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		19 24 4 7.7E-02 1 1.2E-02
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		20 30 4 7.5E-02 3 3.3E-02
CUI: C0037763
Disease: Spasm
Spasm 		7 8 3 7.3E-02 1 1.4E-02
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs 		7 7 3 7.3E-02 3 4.5E-02
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		7 14 3 7.3E-02 2 2.7E-02
CUI: C0241237
Disease: Difficulty standing
Difficulty standing 		8 14 3 7.1E-02 2 2.7E-02
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		9 0 3 7.0E-02 0 0
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S 		9 0 3 7.0E-02 0 0
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		10 0 3 6.8E-02 0 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		10 12 3 6.8E-02 1 1.4E-02
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		26 32 4 6.8E-02 2 2.2E-02
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		43 0 5 6.7E-02 0 0
CUI: C0018808
Disease: Heart murmur
Heart murmur 		11 10 3 6.7E-02 1 1.4E-02
CUI: C1854301
Disease: Motor delay
Motor delay 		27 0 4 6.7E-02 0 0
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		13 14 3 6.4E-02 2 2.7E-02