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: C0010051
Disease: Coronary Aneurysm
Coronary Aneurysm 		1 0 1 1.00 0 0
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		1 0 1 1.00 0 0
CUI: C0030353
Disease: Papilledema
Papilledema 		1 0 1 1.00 0 0
CUI: C0033999
Disease: Pterygium
Pterygium 		1 0 1 1.00 0 0
CUI: C0152190
Disease: Refractive amblyopia
Refractive amblyopia 		1 0 1 1.00 0 0
CUI: C0162164
Disease: Congenital stenosis of pulmonary valve
Congenital stenosis of pulmonary valve 		1 3 1 1.00 1 0.33
CUI: C0265833
Disease: Congenital insufficiency of pulmonary valve
Congenital insufficiency of pulmonary valve 		1 0 1 1.00 0 0
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		1 29 1 1.00 1 3.4E-02
CUI: C0442887
Disease: Septal hypertrophy
Septal hypertrophy 		1 0 1 1.00 0 0
CUI: C0455792
Disease: Small scrotum
Small scrotum 		1 0 1 1.00 0 0
CUI: C0700199
Disease: Multiple nevi
Multiple nevi 		1 0 1 1.00 0 0
CUI: C4021657
Disease: Abnormality of bone mineral density
Abnormality of bone mineral density 		1 0 1 1.00 0 0
CUI: C4025818
Disease: Abnormality of skeletal maturation
Abnormality of skeletal maturation 		1 0 1 1.00 0 0
CUI: C4073188
Disease: Abnormality of the somatic nervous system
Abnormality of the somatic nervous system 		1 0 1 1.00 0 0
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		1 22 1 1.00 1 4.5E-02
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		2 0 1 0.50 0 0
CUI: C0162770
Disease: Right Ventricular Hypertrophy
Right Ventricular Hypertrophy 		2 0 1 0.50 0 0
CUI: C0162819
Disease: Skin Diseases, Vascular
Skin Diseases, Vascular 		2 0 1 0.50 0 0
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		2 8 1 0.50 1 0.12
CUI: C0332563
Disease: Papule
Papule 		2 0 1 0.50 0 0
CUI: C0558844
Disease: Knee reflex absent
Knee reflex absent 		2 0 1 0.50 0 0
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		2 0 1 0.50 0 0
CUI: C1836933
Disease: Low-set nipples
Low-set nipples 		2 0 1 0.50 0 0
CUI: C1854111
Disease: Broad philtrum
Broad philtrum 		2 0 1 0.50 0 0
CUI: C1861869
Disease: Underdeveloped supraorbital ridges
Underdeveloped supraorbital ridges 		2 0 1 0.50 0 0