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: C1321884
Disease: Atresia of vagina
Atresia of vagina 		16 0 3 0.19 0 0
CUI: C0238441
Disease: Subglottic stenosis
Subglottic stenosis 		17 0 3 0.18 0 0
CUI: C0265766
Disease: Congenital atresia of trachea
Congenital atresia of trachea 		4 0 1 0.17 0 0
CUI: C0281890
Disease: Laryngeal web
Laryngeal web 		4 0 1 0.17 0 0
CUI: C1848670
Disease: Aplasia/Hypoplasia of the phalanges of the hand
Aplasia/Hypoplasia of the phalanges of the hand 		4 0 1 0.17 0 0
CUI: C1855335
Disease: Hypoplasia of the bladder
Hypoplasia of the bladder 		4 0 1 0.17 0 0
CUI: C1865305
Disease: Hypoplastic superior helix
Hypoplastic superior helix 		4 0 1 0.17 0 0
CUI: C4023812
Disease: Aplasia of the bladder
Aplasia of the bladder 		4 0 1 0.17 0 0
CUI: C0266231
Disease: Ectopic anus
Ectopic anus 		20 0 3 0.15 0 0
CUI: C0262650
Disease: Abnormality of the thymus
Abnormality of the thymus 		5 0 1 0.14 0 0
CUI: C4025208
Disease: Severe T-cell immunodeficiency
Severe T-cell immunodeficiency 		5 0 1 0.14 0 0
CUI: C4025787
Disease: Calvarial skull defect
Calvarial skull defect 		22 0 3 0.14 0 0
CUI: C1610065
Disease: Urethral atresia
Urethral atresia 		23 0 3 0.13 0 0
CUI: C0266111
Disease: Bifid tongue
Bifid tongue 		24 0 3 0.12 0 0
CUI: C1857456
Disease: Morphological abnormality of the middle ear
Morphological abnormality of the middle ear 		6 0 1 0.12 0 0
CUI: C1863872
Disease: Coloboma of superior eyelid
Coloboma of superior eyelid 		6 0 1 0.12 0 0
CUI: C0011981
Disease: Diaphragmatic Eventration
Diaphragmatic Eventration 		16 0 2 0.12 0 0
CUI: C4025329
Disease: Abnormality of the anus
Abnormality of the anus 		16 0 2 0.12 0 0
CUI: C1861921
Disease: Cutaneous syndactyly
Cutaneous syndactyly 		17 0 2 0.11 0 0
CUI: C4551936
Disease: Anal Stenosis, CTCAE
Anal Stenosis, CTCAE 		27 0 3 0.11 0 0
CUI: C0262374
Disease: Stricture of anus
Stricture of anus 		28 0 3 0.11 0 0
CUI: C0040583
Disease: Tracheal Stenosis
Tracheal Stenosis 		30 0 3 1.0E-01 0 0
CUI: C1853406
Disease: Difficulty in tongue movements
Difficulty in tongue movements 		8 0 1 1.0E-01 0 0
CUI: C0685695
Disease: Abnormal lung lobation
Abnormal lung lobation 		32 0 3 9.4E-02 0 0
CUI: C0392485
Disease: Congenital diverticulum of pharynx
Congenital diverticulum of pharynx 		10 0 1 8.3E-02 0 0