Source: INFERRED ×
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: C0018799
Disease: Heart Diseases
Heart Diseases 		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: C0340425
Disease: Hypertrophic cardiomyopathy without obstruction
Hypertrophic cardiomyopathy without obstruction 		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: C0700199
Disease: Multiple nevi
Multiple nevi 		1 0 1 1.00 0 0
CUI: C4025162
Disease: Multiple digital exostoses
Multiple digital exostoses 		1 0 1 1.00 0 0
CUI: C4025818
Disease: Abnormality of skeletal maturation
Abnormality of skeletal maturation 		1 1 1 1.00 1 1.00
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: 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 0.50 0 0
CUI: C3472624
Disease: B lymphoblastic leukemia lymphoma, no ICD-O subtype
B lymphoblastic leukemia lymphoma, no ICD-O subtype 		2 2 1 0.50 1 0.50
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		3 0 1 0.33 0 0
CUI: C0455792
Disease: Small scrotum
Small scrotum 		3 0 1 0.33 0 0
CUI: C1866206
Disease: Dysplastic pulmonary valve
Dysplastic pulmonary valve 		3 0 1 0.33 0 0
CUI: C2215935
Disease: Electrocardiogram atrioventricular block complete heart block
Electrocardiogram atrioventricular block complete heart block 		4 0 1 0.25 0 0
CUI: C0206729
Disease: Neurofibrosarcoma
Neurofibrosarcoma 		5 0 1 0.20 0 0
CUI: C0266368
Disease: Congenital absence of ovary
Congenital absence of ovary 		5 0 1 0.20 0 0
CUI: C0558844
Disease: Knee reflex absent
Knee reflex absent 		5 2 1 0.20 1 0.50
CUI: C1864795
Disease: Superior pectus carinatum
Superior pectus carinatum 		5 0 1 0.20 0 0
CUI: C1864796
Disease: Pectus excavatum of inferior sternum
Pectus excavatum of inferior sternum 		5 0 1 0.20 0 0
CUI: C3548532
Disease: response to alcohol
response to alcohol 		5 0 1 0.20 0 0
CUI: C4024692
Disease: Reduced factor XIII activity
Reduced factor XIII activity 		5 0 1 0.20 0 0
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		6 0 1 0.17 0 0