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: C4021006
Disease: Short distal phalanx of the 5th toe
Short distal phalanx of the 5th toe 		1 0 1 0.20 0 0
CUI: C4022755
Disease: Functional abnormality of the gastrointestinal tract
Functional abnormality of the gastrointestinal tract 		7 0 2 0.20 0 0
CUI: C4225282
Disease: NOONAN SYNDROME 9
NOONAN SYNDROME 9 		1 0 1 0.20 0 0
CUI: C4551629
Disease: Congenital talipes calcaneovalgus
Congenital talipes calcaneovalgus 		1 0 1 0.20 0 0
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function 		21 2 4 0.18 1 0.25
CUI: C0206716
Disease: Ganglioglioma
Ganglioglioma 		2 0 1 0.17 0 0
CUI: C0239340
Disease: Edema of lower extremity
Edema of lower extremity 		2 0 1 0.17 0 0
CUI: C0240278
Disease: Lymphatic obstruction
Lymphatic obstruction 		2 0 1 0.17 0 0
CUI: C0424492
Disease: Coarse features
Coarse features 		2 0 1 0.17 0 0
CUI: C4021250
Disease: Intracranial cystic lesion
Intracranial cystic lesion 		2 0 1 0.17 0 0
CUI: C4021873
Disease: Abnormality of the frontal bone
Abnormality of the frontal bone 		2 0 1 0.17 0 0
CUI: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal 		16 0 3 0.17 0 0
CUI: C4023637
Disease: Abnormality of the nasal bone
Abnormality of the nasal bone 		2 0 1 0.17 0 0
CUI: C4024750
Disease: Abnormality of the palpebral fissures
Abnormality of the palpebral fissures 		2 0 1 0.17 0 0
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		24 7 4 0.16 1 0.11
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		3 0 1 0.14 0 0
CUI: C0266324
Disease: Congenital dilatation of ureter
Congenital dilatation of ureter 		3 0 1 0.14 0 0
CUI: C0574974
Disease: Finger joint hypermobility
Finger joint hypermobility 		3 0 1 0.14 0 0
CUI: C1827668
Disease: Tongue thrusting when swallowing, abnormal persistence beyond early childhood
Tongue thrusting when swallowing, abnormal persistence beyond early childhood 		3 0 1 0.14 0 0
CUI: C1848760
Disease: Increased anterioposterior diameter of thorax
Increased anterioposterior diameter of thorax 		3 0 1 0.14 0 0
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		3 0 1 0.14 0 0
CUI: C1861873
Disease: Multiple plantar creases
Multiple plantar creases 		3 0 1 0.14 0 0
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		3 61 1 0.14 1 1.6E-02
CUI: C1834124
Disease: Shield chest
Shield chest 		12 0 2 0.13 0 0
CUI: C0006281
Disease: Congenital bronchogenic cyst
Congenital bronchogenic cyst 		4 0 1 0.12 0 0