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: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		12 153 7 0.29 18 0.10
CUI: C0221217
Disease: Neck webbing
Neck webbing 		11 19 6 0.25 6 0.12
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		11 73 6 0.25 19 0.21
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		6 32 4 0.19 4 6.1E-02
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		37 43 8 0.17 7 9.5E-02
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		9 14 4 0.17 3 6.1E-02
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		31 34 7 0.16 5 7.5E-02
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		25 28 6 0.16 4 6.5E-02
CUI: C0281788
Disease: Biventricular hypertrophy
Biventricular hypertrophy 		3 2 3 0.16 2 5.3E-02
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		11 51 4 0.15 1 1.1E-02
CUI: C0521525
Disease: Short neck
Short neck 		26 29 6 0.15 4 6.3E-02
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		19 19 5 0.15 5 9.6E-02
CUI: C0235063
Disease: Respiratory Depression
Respiratory Depression 		4 5 3 0.15 1 2.4E-02
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		4 7 3 0.15 2 4.7E-02
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		4 70 3 0.15 5 4.9E-02
CUI: C1856872
Disease: Down-sloping shoulders
Down-sloping shoulders 		4 0 3 0.15 0 0
CUI: C1858033
Disease: Asymmetry of the thorax
Asymmetry of the thorax 		4 0 3 0.15 0 0
CUI: C1854114
Disease: Short nose
Short nose 		20 23 5 0.15 6 0.11
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		13 82 4 0.14 1 8.4E-03
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		21 23 5 0.14 5 8.9E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 77 10 0.14 11 0.11
CUI: C0239676
Disease: High forehead
High forehead 		14 17 4 0.14 6 0.12
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		31 34 6 0.14 4 5.9E-02
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		6 25 3 0.14 1 1.6E-02
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		6 11 3 0.14 3 6.5E-02