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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 9 2.5E-02 3 4.7E-03
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		21 48 8 0.16 4 3.7E-02
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		23 42 8 0.15 3 2.9E-02
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		13 16 8 0.19 9 0.13
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		39 59 7 0.10 5 4.3E-02
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		30 42 6 9.8E-02 4 4.0E-02
CUI: C0234182
Disease: Gowers sign
Gowers sign 		7 8 6 0.16 3 4.4E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 6 1.8E-02 2 3.5E-03
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		12 14 6 0.14 4 5.5E-02
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		45 172 6 7.9E-02 1 4.3E-03
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		15 15 6 0.13 3 4.0E-02
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		27 45 6 0.10 3 2.9E-02
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		43 0 5 6.7E-02 0 0
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		31 38 5 7.9E-02 4 4.1E-02
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		11 0 5 0.12 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		63 92 5 5.3E-02 3 2.0E-02
CUI: C0231712
Disease: Waddling gait
Waddling gait 		8 8 5 0.12 2 2.9E-02
CUI: C0234146
Disease: Absent reflex
Absent reflex 		11 16 5 0.12 4 5.3E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 611 5 1.4E-02 1 1.5E-03
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass 		11 12 5 0.12 2 2.7E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 5 3.1E-02 3 1.3E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 118 5 4.1E-02 2 1.1E-02
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		31 34 5 7.9E-02 3 3.2E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 4 1.5E-02 1 2.4E-03
CUI: C0013404
Disease: Dyspnea
Dyspnea 		18 21 4 7.8E-02 2 2.4E-02