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: C3806402
Disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0 23 0 0 1 7.8E-03
CUI: C0002171
Disease: Alopecia Areata
Alopecia Areata 		1 0 1 1.1E-02 0 0
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		1 0 1 1.1E-02 0 0
CUI: C0008373
Disease: Cholesteatoma
Cholesteatoma 		1 0 1 1.1E-02 0 0
CUI: C0008733
Disease: Chylothorax
Chylothorax 		1 2 1 1.1E-02 1 9.3E-03
CUI: C0010051
Disease: Coronary Aneurysm
Coronary Aneurysm 		1 0 1 1.1E-02 0 0
CUI: C0012736
Disease: Dissecting aortic aneurysm
Dissecting aortic aneurysm 		1 0 1 1.1E-02 0 0
CUI: C0014867
Disease: Esophageal Varices
Esophageal Varices 		1 0 1 1.1E-02 0 0
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		1 0 1 1.1E-02 0 0
CUI: C0020492
Disease: Hyperostosis
Hyperostosis 		1 2 1 1.1E-02 2 1.9E-02
CUI: C0020517
Disease: Hypersensitivity
Hypersensitivity 		1 0 1 1.1E-02 0 0
CUI: C0020541
Disease: Portal Hypertension
Portal Hypertension 		1 0 1 1.1E-02 0 0
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome 		1 2 1 1.1E-02 1 9.3E-03
CUI: C0025467
Disease: Mesenteric Cyst
Mesenteric Cyst 		1 2 1 1.1E-02 2 1.9E-02
CUI: C0028866
Disease: Oculomotor Nerve Paralysis
Oculomotor Nerve Paralysis 		1 1 1 1.1E-02 1 9.4E-03
CUI: C0029423
Disease: Cartilaginous exostosis
Cartilaginous exostosis 		1 2 1 1.1E-02 2 1.9E-02
CUI: C0030353
Disease: Papilledema
Papilledema 		1 0 1 1.1E-02 0 0
CUI: C0031154
Disease: Peritonitis
Peritonitis 		1 0 1 1.1E-02 0 0
CUI: C0033999
Disease: Pterygium
Pterygium 		1 0 1 1.1E-02 0 0
CUI: C0041960
Disease: Ureterocele
Ureterocele 		1 0 1 1.1E-02 0 0
CUI: C0085417
Disease: Epilepsy, Complex Partial
Epilepsy, Complex Partial 		1 0 1 1.1E-02 0 0
CUI: C0086648
Disease: MPS III B
MPS III B 		1 71 1 1.1E-02 2 1.1E-02
CUI: C0152190
Disease: Refractive amblyopia
Refractive amblyopia 		1 0 1 1.1E-02 0 0
CUI: C0152441
Disease: Madelung Deformity
Madelung Deformity 		1 0 1 1.1E-02 0 0
CUI: C0162164
Disease: Congenital stenosis of pulmonary valve
Congenital stenosis of pulmonary valve 		1 0 1 1.1E-02 0 0