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: C0040583
Disease: Tracheal Stenosis
Tracheal Stenosis 		2 0 2 0.22 0 0
CUI: C2748518
Disease: Lumbar scoliosis
Lumbar scoliosis 		2 0 2 0.22 0 0
CUI: C0277959
Disease: Coarse hair
Coarse hair 		3 4 2 0.20 2 0.13
CUI: C1836195
Disease: Short toe
Short toe 		3 0 2 0.20 0 0
CUI: C0040961
Disease: Tricuspid Valve Insufficiency
Tricuspid Valve Insufficiency 		4 0 2 0.18 0 0
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		13 15 3 0.16 2 7.7E-02
CUI: C0231528
Disease: Myalgia
Myalgia 		6 0 2 0.15 0 0
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect 		6 0 2 0.15 0 0
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		6 7 2 0.15 1 5.3E-02
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		6 11 2 0.15 2 9.1E-02
CUI: C0004106
Disease: Astigmatism
Astigmatism 		15 0 3 0.14 0 0
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		23 25 4 0.14 3 8.6E-02
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin 		8 11 2 0.13 1 4.3E-02
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		26 35 4 0.13 3 6.7E-02
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		9 24 2 0.12 4 0.12
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		9 14 2 0.12 2 8.0E-02
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		9 15 2 0.12 3 0.12
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		9 13 2 0.12 2 8.3E-02
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		18 0 3 0.12 0 0
CUI: C0221358
Disease: Long narrow head
Long narrow head 		19 26 3 0.12 2 5.4E-02
CUI: C0024433
Disease: Macrostomia
Macrostomia 		10 0 2 0.12 0 0
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		10 0 2 0.12 0 0
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		10 13 2 0.12 2 8.3E-02
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		1 0 1 0.11 0 0
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		11 0 2 0.11 0 0