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: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		2 8 2 0.33 1 5.6E-02
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		2 9 2 0.33 3 0.18
CUI: C1836933
Disease: Low-set nipples
Low-set nipples 		2 2 2 0.33 1 8.3E-02
CUI: C2748518
Disease: Lumbar scoliosis
Lumbar scoliosis 		2 0 2 0.33 0 0
CUI: C0277959
Disease: Coarse hair
Coarse hair 		3 0 2 0.29 0 0
CUI: C1861388
Disease: Short 5th metacarpal
Short 5th metacarpal 		3 0 2 0.29 0 0
CUI: C0027960
Disease: Nevus
Nevus 		4 7 2 0.25 2 0.12
CUI: C0040961
Disease: Tricuspid Valve Insufficiency
Tricuspid Valve Insufficiency 		4 0 2 0.25 0 0
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		4 7 2 0.25 1 5.9E-02
CUI: C1853638
Disease: Broad neck
Broad neck 		4 10 2 0.25 2 0.11
CUI: C1839797
Disease: Deep philtrum
Deep philtrum 		5 5 2 0.22 1 6.7E-02
CUI: C1857953
Disease: Deep plantar creases
Deep plantar creases 		5 6 2 0.22 1 6.2E-02
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		6 0 2 0.20 0 0
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		7 8 2 0.18 1 5.6E-02
CUI: C1858085
Disease: Malar flattening
Malar flattening 		7 12 2 0.18 1 4.5E-02
CUI: C0239676
Disease: High forehead
High forehead 		14 17 3 0.18 1 3.7E-02
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		1 2 1 0.17 1 8.3E-02
CUI: C0010051
Disease: Coronary Aneurysm
Coronary Aneurysm 		1 0 1 0.17 0 0
CUI: C0012736
Disease: Dissecting aortic aneurysm
Dissecting aortic aneurysm 		1 0 1 0.17 0 0
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		1 0 1 0.17 0 0
CUI: C0030353
Disease: Papilledema
Papilledema 		1 0 1 0.17 0 0
CUI: C0033999
Disease: Pterygium
Pterygium 		1 0 1 0.17 0 0
CUI: C0152190
Disease: Refractive amblyopia
Refractive amblyopia 		1 0 1 0.17 0 0
CUI: C0158465
Disease: Acquired cubitus valgus
Acquired cubitus valgus 		1 0 1 0.17 0 0
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		15 26 3 0.17 3 8.8E-02