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 0.50 4 0.29
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		2 9 2 0.50 2 0.12
CUI: C1836933
Disease: Low-set nipples
Low-set nipples 		2 2 2 0.50 1 9.1E-02
CUI: C1859717
Disease: Depressed nasal tip
Depressed nasal tip 		3 3 2 0.40 2 0.18
CUI: C0027960
Disease: Nevus
Nevus 		4 7 2 0.33 2 0.13
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		4 0 2 0.33 0 0
CUI: C1849221
Disease: Fair hair
Fair hair 		4 5 2 0.33 1 7.1E-02
CUI: C1856872
Disease: Down-sloping shoulders
Down-sloping shoulders 		4 4 2 0.33 1 7.7E-02
CUI: C1839797
Disease: Deep philtrum
Deep philtrum 		5 0 2 0.29 0 0
CUI: C1857953
Disease: Deep plantar creases
Deep plantar creases 		5 0 2 0.29 0 0
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		10 11 3 0.27 2 0.11
CUI: C0010051
Disease: Coronary Aneurysm
Coronary Aneurysm 		1 0 1 0.25 0 0
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		1 1 1 0.25 1 1.0E-01
CUI: C0030353
Disease: Papilledema
Papilledema 		1 0 1 0.25 0 0
CUI: C0033999
Disease: Pterygium
Pterygium 		1 1 1 0.25 1 1.0E-01
CUI: C0152190
Disease: Refractive amblyopia
Refractive amblyopia 		1 0 1 0.25 0 0
CUI: C0162164
Disease: Congenital stenosis of pulmonary valve
Congenital stenosis of pulmonary valve 		1 3 1 0.25 1 8.3E-02
CUI: C0206620
Disease: Lymphangioma, Cystic
Lymphangioma, Cystic 		1 0 1 0.25 0 0
CUI: C0221217
Disease: Neck webbing
Neck webbing 		11 19 3 0.25 9 0.45
CUI: C0265833
Disease: Congenital insufficiency of pulmonary valve
Congenital insufficiency of pulmonary valve 		1 1 1 0.25 1 1.0E-01
CUI: C0266030
Disease: Supernumerary mesiodens tooth
Supernumerary mesiodens tooth 		1 1 1 0.25 1 1.0E-01
CUI: C0271135
Disease: Ectopic pupil
Ectopic pupil 		1 1 1 0.25 1 1.0E-01
CUI: C0340425
Disease: Hypertrophic cardiomyopathy without obstruction
Hypertrophic cardiomyopathy without obstruction 		1 0 1 0.25 0 0
CUI: C0392006
Disease: Unilateral cleft lip
Unilateral cleft lip 		1 1 1 0.25 1 1.0E-01
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		1 29 1 0.25 6 0.18