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: C0855740
Disease: Abnormal platelet function
Abnormal platelet function 		21 0 14 0.61 0 0
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		19 0 13 0.59 0 0
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		22 0 13 0.52 0 0
CUI: C4020962
Disease: Enlarged thorax
Enlarged thorax 		25 0 14 0.52 0 0
CUI: C4025749
Disease: Abnormality of the spleen
Abnormality of the spleen 		26 0 14 0.50 0 0
CUI: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity 		29 0 14 0.45 0 0
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		28 0 13 0.42 0 0
CUI: C4023909
Disease: Aplasia/Hypoplasia of the abdominal wall musculature
Aplasia/Hypoplasia of the abdominal wall musculature 		32 0 14 0.41 0 0
CUI: C0238397
Disease: Pulmonary artery stenosis
Pulmonary artery stenosis 		36 0 14 0.37 0 0
CUI: C1837732
Disease: Thickened helices
Thickened helices 		37 0 14 0.36 0 0
CUI: C3164374
Disease: Abnormality of pulmonary valve
Abnormality of pulmonary valve 		40 0 14 0.33 0 0
CUI: C0347915
Disease: Congenital malformation syndromes associated with short stature
Congenital malformation syndromes associated with short stature 		9 0 6 0.32 0 0
CUI: C0206620
Disease: Lymphangioma, Cystic
Lymphangioma, Cystic 		43 0 14 0.31 0 0
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern 		44 0 14 0.30 0 0
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male 		11 0 6 0.29 0 0
CUI: C1527404
Disease: Female Pseudo-Turner Syndrome
Female Pseudo-Turner Syndrome 		11 0 6 0.29 0 0
CUI: C0175691
Disease: Dubowitz syndrome
Dubowitz syndrome 		12 0 6 0.27 0 0
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		47 0 13 0.26 0 0
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		23 0 8 0.26 0 0
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		24 0 8 0.25 0 0
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		50 0 13 0.25 0 0
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold 		58 0 14 0.23 0 0
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		59 0 14 0.23 0 0
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		11 0 5 0.23 0 0
CUI: C0277959
Disease: Coarse hair
Coarse hair 		60 0 14 0.23 0 0