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: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal 		16 0 14 0.41 0 0
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function 		21 0 14 0.36 0 0
CUI: C4020962
Disease: Enlarged thorax
Enlarged thorax 		25 0 15 0.36 0 0
CUI: C4025749
Disease: Abnormality of the spleen
Abnormality of the spleen 		26 0 15 0.35 0 0
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		19 0 13 0.34 0 0
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		22 0 13 0.32 0 0
CUI: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity 		29 0 14 0.30 0 0
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		28 0 13 0.28 0 0
CUI: C0238397
Disease: Pulmonary artery stenosis
Pulmonary artery stenosis 		36 0 14 0.26 0 0
CUI: C1837732
Disease: Thickened helices
Thickened helices 		37 0 14 0.25 0 0
CUI: C0206620
Disease: Lymphangioma, Cystic
Lymphangioma, Cystic 		43 0 15 0.25 0 0
CUI: C3164374
Disease: Abnormality of pulmonary valve
Abnormality of pulmonary valve 		40 0 14 0.24 0 0
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern 		44 0 14 0.23 0 0
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		47 0 14 0.22 0 0
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency 		71 0 17 0.20 0 0
CUI: C0221217
Disease: Neck webbing
Neck webbing 		78 0 18 0.20 0 0
CUI: C0277959
Disease: Coarse hair
Coarse hair 		60 0 15 0.19 0 0
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		67 0 16 0.19 0 0
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		50 0 13 0.19 0 0
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold 		58 0 14 0.18 0 0
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		59 0 14 0.18 0 0
CUI: C0024236
Disease: Lymphedema
Lymphedema 		61 0 14 0.18 0 0
CUI: C0347915
Disease: Congenital malformation syndromes associated with short stature
Congenital malformation syndromes associated with short stature 		9 0 6 0.17 0 0
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		23 0 8 0.17 0 0
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		24 0 8 0.17 0 0