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: C4023457
Disease: Short face
Short face 		6 0 3 0.15 0 0
CUI: C0546968
Disease: Fistula of branchial cleft
Fistula of branchial cleft 		8 0 3 0.14 0 0
CUI: C4551936
Disease: Anal Stenosis, CTCAE
Anal Stenosis, CTCAE 		27 0 5 0.13 0 0
CUI: C0262374
Disease: Stricture of anus
Stricture of anus 		28 0 5 0.12 0 0
CUI: C0521573
Disease: Coloboma of eyelid
Coloboma of eyelid 		28 0 5 0.12 0 0
CUI: C4021794
Disease: Abnormality of the adrenal glands
Abnormality of the adrenal glands 		10 0 3 0.12 0 0
CUI: C0240880
Disease: Rectoperineal fistula
Rectoperineal fistula 		2 0 2 0.12 0 0
CUI: C0561921
Disease: Perineal fistula
Perineal fistula 		2 0 2 0.12 0 0
CUI: C1843005
Disease: Absent eyelashes
Absent eyelashes 		21 0 4 0.12 0 0
CUI: C1862698
Disease: Aplasia/Hypoplasia of the 3rd toe
Aplasia/Hypoplasia of the 3rd toe 		2 0 2 0.12 0 0
CUI: C1846473
Disease: Aplasia of metacarpal bones
Aplasia of metacarpal bones 		3 0 2 0.11 0 0
CUI: C1867616
Disease: Dermoid choristoma of eye proper
Dermoid choristoma of eye proper 		3 0 2 0.11 0 0
CUI: C4024162
Disease: Abnormality of the tragus
Abnormality of the tragus 		3 0 2 0.11 0 0
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus 		34 0 5 0.11 0 0
CUI: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia 		14 0 3 0.11 0 0
CUI: C0584837
Disease: Choanal stenosis
Choanal stenosis 		14 0 3 0.11 0 0
CUI: C4023383
Disease: Narrow internal auditory canal
Narrow internal auditory canal 		14 0 3 0.11 0 0
CUI: C0265246
Disease: Townes syndrome
Townes syndrome 		4 0 2 0.11 0 0
CUI: C1837826
Disease: Coloboma of inferior eyelid
Coloboma of inferior eyelid 		4 0 2 0.11 0 0
CUI: C0031019
Disease: Perianal abscess
Perianal abscess 		5 0 2 1.0E-01 0 0
CUI: C0266345
Disease: Congenital urethral valve
Congenital urethral valve 		5 0 2 1.0E-01 0 0
CUI: C4021343
Disease: Broad hallux phalanx
Broad hallux phalanx 		17 0 3 9.7E-02 0 0
CUI: C0266411
Disease: Septate vagina
Septate vagina 		6 0 2 9.5E-02 0 0
CUI: C1850327
Disease: Bifid uterus
Bifid uterus 		6 0 2 9.5E-02 0 0
CUI: C1863872
Disease: Coloboma of superior eyelid
Coloboma of superior eyelid 		6 0 2 9.5E-02 0 0