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 0.40 1 8.3E-02
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		2 0 2 0.40 0 0
CUI: C1836933
Disease: Low-set nipples
Low-set nipples 		2 0 2 0.40 0 0
CUI: C0027960
Disease: Nevus
Nevus 		4 0 2 0.29 0 0
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		4 7 2 0.29 1 9.1E-02
CUI: C1843300
Disease: Sparse eyelashes
Sparse eyelashes 		4 4 2 0.29 1 0.12
CUI: C1853638
Disease: Broad neck
Broad neck 		4 0 2 0.29 0 0
CUI: C1857953
Disease: Deep plantar creases
Deep plantar creases 		5 6 2 0.25 1 1.0E-01
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		6 11 2 0.22 1 6.7E-02
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		6 32 2 0.22 1 2.8E-02
CUI: C0010051
Disease: Coronary Aneurysm
Coronary Aneurysm 		1 1 1 0.20 1 0.20
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		1 0 1 0.20 0 0
CUI: C0028949
Disease: Oligomenorrhea
Oligomenorrhea 		1 0 1 0.20 0 0
CUI: C0030353
Disease: Papilledema
Papilledema 		1 1 1 0.20 1 0.20
CUI: C0033999
Disease: Pterygium
Pterygium 		1 0 1 0.20 0 0
CUI: C0152190
Disease: Refractive amblyopia
Refractive amblyopia 		1 0 1 0.20 0 0
CUI: C0162164
Disease: Congenital stenosis of pulmonary valve
Congenital stenosis of pulmonary valve 		1 0 1 0.20 0 0
CUI: C0206620
Disease: Lymphangioma, Cystic
Lymphangioma, Cystic 		1 0 1 0.20 0 0
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		1 0 1 0.20 0 0
CUI: C0265833
Disease: Congenital insufficiency of pulmonary valve
Congenital insufficiency of pulmonary valve 		1 0 1 0.20 0 0
CUI: C0340425
Disease: Hypertrophic cardiomyopathy without obstruction
Hypertrophic cardiomyopathy without obstruction 		1 0 1 0.20 0 0
CUI: C0392188
Disease: Abnormal rapid eye movement sleep
Abnormal rapid eye movement sleep 		1 0 1 0.20 0 0
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		1 29 1 0.20 1 3.0E-02
CUI: C0442887
Disease: Septal hypertrophy
Septal hypertrophy 		1 1 1 0.20 1 0.20
CUI: C0455792
Disease: Small scrotum
Small scrotum 		1 0 1 0.20 0 0