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: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		24 332 15 0.39 188 0.31
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		45 172 16 0.28 36 6.0E-02
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		43 443 13 0.22 6 6.6E-03
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		11 73 5 0.14 5 9.3E-03
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		12 153 5 0.14 4 6.5E-03
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		7 93 4 0.12 53 0.10
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		3 17 3 0.10 2 4.1E-03
CUI: C0043202
Disease: Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White Syndrome 		14 16 4 0.10 3 6.2E-03
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		4 7 3 1.0E-01 2 4.2E-03
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy 		5 6 3 9.7E-02 1 2.1E-03
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		6 15 3 9.4E-02 6 1.3E-02
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		6 32 3 9.4E-02 1 2.0E-03
CUI: C0013404
Disease: Dyspnea
Dyspnea 		18 21 4 9.3E-02 3 6.2E-03
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		19 38 4 9.1E-02 4 8.0E-03
CUI: C1960469
Disease: Left ventricular noncompaction
Left ventricular noncompaction 		8 19 3 8.8E-02 7 1.5E-02
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		21 23 4 8.7E-02 2 4.1E-03
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		9 0 3 8.6E-02 0 0
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		10 32 3 8.3E-02 4 8.1E-03
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		11 0 3 8.1E-02 0 0
CUI: C0521525
Disease: Short neck
Short neck 		26 29 4 7.8E-02 5 1.0E-02
CUI: C0239676
Disease: High forehead
High forehead 		14 17 3 7.5E-02 2 4.1E-03
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		15 76 3 7.3E-02 2 3.7E-03
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		30 188 4 7.3E-02 2 3.1E-03
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		31 216 4 7.1E-02 3 4.4E-03
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		31 34 4 7.1E-02 1 2.0E-03