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 2 6.0E-03 2 3.5E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 0 2 8.4E-03 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 0 2 3.2E-02 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		63 0 2 3.2E-02 0 0
CUI: C0027092
Disease: Myopia
Myopia 		45 52 2 4.4E-02 2 3.8E-02
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: C1837658
Disease: Gross motor development delay
Gross motor development delay 		39 59 2 5.1E-02 2 3.4E-02
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		37 0 2 5.4E-02 0 0
CUI: C0026848
Disease: Myopathy
Myopathy 		37 63 2 5.4E-02 2 3.2E-02
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		31 34 2 6.5E-02 2 5.9E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		26 0 2 7.7E-02 0 0
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		21 0 2 9.5E-02 0 0
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		20 24 2 1.0E-01 2 8.3E-02
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		19 0 2 0.11 0 0
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		19 0 2 0.11 0 0
CUI: C0013404
Disease: Dyspnea
Dyspnea 		18 21 2 0.11 2 9.5E-02
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		15 0 2 0.13 0 0
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		15 0 2 0.13 0 0
CUI: C0043202
Disease: Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White Syndrome 		14 0 2 0.14 0 0
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		13 0 2 0.15 0 0
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		13 0 2 0.15 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		13 16 2 0.15 2 0.12
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		12 0 2 0.17 0 0
CUI: C0749379
Disease: Thoracolumbar scoliosis
Thoracolumbar scoliosis 		12 15 2 0.17 2 0.13