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: C2242595
Disease: Mucosal atrophy
Mucosal atrophy 		0 5 0 0 1 0.14
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		717 0 1 1.3E-03 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 0 1 1.5E-03 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 1 1.5E-03 0 0
CUI: C0598935
Disease: Tumor Initiation
Tumor Initiation 		533 0 1 1.6E-03 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 1 1.8E-03 0 0
CUI: C0007124
Disease: Noninfiltrating Intraductal Carcinoma
Noninfiltrating Intraductal Carcinoma 		486 0 1 1.8E-03 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		453 0 1 1.9E-03 0 0
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		441 0 1 1.9E-03 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 0 1 1.9E-03 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 1 2.1E-03 0 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		340 0 1 2.4E-03 0 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		337 0 1 2.4E-03 0 0
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		325 0 1 2.5E-03 0 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		319 0 1 2.5E-03 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 2 2.5E-03 0 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		318 0 1 2.5E-03 0 0
CUI: C0005890
Disease: Body Height
Body Height 		1903 0 5 2.5E-03 0 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 1 2.6E-03 0 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		306 0 1 2.6E-03 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 0 1 2.6E-03 0 0
CUI: C0042963
Disease: Vomiting
Vomiting 		303 0 1 2.6E-03 0 0
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		285 0 1 2.7E-03 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 0 1 2.8E-03 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 3 2.8E-03 0 0