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: C2675111
Disease: Abnormal eyelash morphology
Abnormal eyelash morphology 		39 0 10 0.19 0 0
CUI: C0221182
Disease: Chordee
Chordee 		11 0 5 0.17 0 0
CUI: C0040962
Disease: Tricuspid Valve Prolapse
Tricuspid Valve Prolapse 		13 0 5 0.16 0 0
CUI: C0520743
Disease: Mediastinal lymphadenopathy
Mediastinal lymphadenopathy 		19 0 5 0.14 0 0
CUI: C1704383
Disease: Primary Lung Lymphoma
Primary Lung Lymphoma 		3 0 3 0.13 0 0
CUI: C4023440
Disease: Cleft earlobe
Cleft earlobe 		3 0 3 0.13 0 0
CUI: C4024888
Disease: Asymmetric, linear skin defects
Asymmetric, linear skin defects 		3 0 3 0.13 0 0
CUI: C4317107
Disease: Abnormality of the thyroid gland
Abnormality of the thyroid gland 		21 0 5 0.13 0 0
CUI: C0266210
Disease: Congenital anomaly of rectum
Congenital anomaly of rectum 		4 0 3 0.12 0 0
CUI: C0235812
Disease: Vitritis
Vitritis 		5 0 3 0.12 0 0
CUI: C0042167
Disease: Uveitis, Posterior
Uveitis, Posterior 		24 0 5 0.12 0 0
CUI: C1857456
Disease: Morphological abnormality of the middle ear
Morphological abnormality of the middle ear 		6 0 3 0.12 0 0
CUI: C4021164
Disease: Bicoronal synostosis
Bicoronal synostosis 		6 0 3 0.12 0 0
CUI: C0265886
Disease: Overriding aorta
Overriding aorta 		17 0 4 0.11 0 0
CUI: C0409477
Disease: Ankylosis of the elbow joint
Ankylosis of the elbow joint 		7 0 3 0.11 0 0
CUI: C0431384
Disease: Colpocephaly
Colpocephaly 		17 0 4 0.11 0 0
CUI: C2676973
Disease: Dilatated internal auditory canal
Dilatated internal auditory canal 		7 0 3 0.11 0 0
CUI: C4021395
Disease: Abnormality of the antihelix
Abnormality of the antihelix 		17 0 4 0.11 0 0
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		8 0 3 0.11 0 0
CUI: C0740372
Disease: Gastrointestinal lymphoma
Gastrointestinal lymphoma 		8 0 3 0.11 0 0
CUI: C4020960
Disease: Abnormality of nail color
Abnormality of nail color 		8 0 3 0.11 0 0
CUI: C4551490
Disease: Ovotestis
Ovotestis 		8 0 3 0.11 0 0
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia 		29 0 5 0.11 0 0
CUI: C0014588
Disease: Epispadias
Epispadias 		30 0 5 0.10 0 0
CUI: C0240182
Disease: Leukonychia
Leukonychia 		9 0 3 0.10 0 0