Source: ALL
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: C0152190
Disease: Refractive amblyopia
Refractive amblyopia 		1 0 1 0.50 0 0
CUI: C0162164
Disease: Congenital stenosis of pulmonary valve
Congenital stenosis of pulmonary valve 		1 3 1 0.50 1 0.25
CUI: C0239894
Disease: HEART DISPLACEMENT
HEART DISPLACEMENT 		1 0 1 0.50 0 0
CUI: C0265833
Disease: Congenital insufficiency of pulmonary valve
Congenital insufficiency of pulmonary valve 		1 1 1 0.50 1 0.50
CUI: C0333648
Disease: Abiotrophy
Abiotrophy 		1 0 1 0.50 0 0
CUI: C1328928
Disease: Multiple Lentigines/LEOPARD syndrome
Multiple Lentigines/LEOPARD syndrome 		1 0 1 0.50 0 0
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		1 112 1 0.50 1 8.8E-03
CUI: C4016911
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 WITH PILOMATRICOMAS
FAMILIAL ADENOMATOUS POLYPOSIS 2 WITH PILOMATRICOMAS 		1 0 1 0.50 0 0
CUI: C4025162
Disease: Multiple digital exostoses
Multiple digital exostoses 		1 0 1 0.50 0 0
CUI: C4025818
Disease: Abnormality of skeletal maturation
Abnormality of skeletal maturation 		1 1 1 0.50 1 0.50
CUI: C4073188
Disease: Abnormality of the somatic nervous system
Abnormality of the somatic nervous system 		1 0 1 0.50 0 0
CUI: C0002016
Disease: Aleutian Mink Disease
Aleutian Mink Disease 		2 0 1 0.33 0 0
CUI: C0344772
Disease: Cleft leaflet of mitral valve
Cleft leaflet of mitral valve 		2 0 1 0.33 0 0
CUI: C0391922
Disease: Hemorrhagic enteritis
Hemorrhagic enteritis 		2 0 1 0.33 0 0
CUI: C0700199
Disease: Multiple nevi
Multiple nevi 		2 0 1 0.33 0 0
CUI: C3150803
Disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 		2 0 1 0.33 0 0
CUI: C0235813
Disease: Neonatal leukaemia
Neonatal leukaemia 		3 0 1 0.25 0 0
CUI: C0340425
Disease: Hypertrophic cardiomyopathy without obstruction
Hypertrophic cardiomyopathy without obstruction 		3 0 1 0.25 0 0
CUI: C0455792
Disease: Small scrotum
Small scrotum 		3 0 1 0.25 0 0
CUI: C1866206
Disease: Dysplastic pulmonary valve
Dysplastic pulmonary valve 		3 0 1 0.25 0 0
CUI: C1868072
Disease: Small intestine carcinoid
Small intestine carcinoid 		3 0 1 0.25 0 0
CUI: C3161106
Disease: Pulmonary interstitial glycogenosis
Pulmonary interstitial glycogenosis 		3 0 1 0.25 0 0
CUI: C1861235
Disease: Forebrain Defects
Forebrain Defects 		4 0 1 0.20 0 0
CUI: C2215935
Disease: Electrocardiogram atrioventricular block complete heart block
Electrocardiogram atrioventricular block complete heart block 		4 0 1 0.20 0 0
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
Neurofibromatosis-Noonan syndrome 		4 0 1 0.20 0 0