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: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		37 43 10 0.17 8 0.12
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		19 19 7 0.16 2 3.9E-02
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		19 38 6 0.14 4 5.9E-02
CUI: C0221217
Disease: Neck webbing
Neck webbing 		11 19 5 0.14 2 3.9E-02
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		11 73 5 0.14 3 2.9E-02
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		12 153 5 0.13 4 2.2E-02
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		4 7 4 0.13 1 2.5E-02
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		23 25 6 0.12 3 5.4E-02
CUI: C1839797
Disease: Deep philtrum
Deep philtrum 		5 5 4 0.12 3 8.3E-02
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		25 28 6 0.12 4 6.9E-02
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		26 35 6 0.12 4 6.2E-02
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		9 14 4 0.11 3 6.7E-02
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		10 11 4 0.11 1 2.3E-02
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		21 23 5 0.11 3 5.6E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 77 9 0.11 4 3.7E-02
CUI: C0426848
Disease: Sacral dimple
Sacral dimple 		11 0 4 0.11 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		56 64 8 0.10 5 5.4E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		35 49 6 1.0E-01 4 5.1E-02
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		14 22 4 9.8E-02 3 5.7E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 49 6 9.7E-02 2 2.5E-02
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		3 17 3 9.7E-02 1 2.0E-02
CUI: C0521525
Disease: Short neck
Short neck 		26 29 5 9.6E-02 1 1.6E-02
CUI: C1853638
Disease: Broad neck
Broad neck 		4 0 3 9.4E-02 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		17 19 4 9.1E-02 2 3.9E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		30 35 5 8.9E-02 5 7.8E-02