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: C4024757
Disease: Malformed lacrimal duct
Malformed lacrimal duct 		3 0 3 0.18 0 0
CUI: C4024773
Disease: Lacrimal duct aplasia
Lacrimal duct aplasia 		3 0 3 0.18 0 0
CUI: C4551480
Disease: FRASER SYNDROME 1
FRASER SYNDROME 1 		3 0 3 0.18 0 0
CUI: C1844537
Disease: Cleft ala nasi
Cleft ala nasi 		4 0 3 0.17 0 0
CUI: C4025412
Disease: Midline nasal groove
Midline nasal groove 		4 0 3 0.17 0 0
CUI: C0311249
Disease: Cryptophthalmos
Cryptophthalmos 		5 0 3 0.16 0 0
CUI: C1857190
Disease: Wide pubic symphysis
Wide pubic symphysis 		5 0 3 0.16 0 0
CUI: C0040583
Disease: Tracheal Stenosis
Tracheal Stenosis 		30 0 6 0.15 0 0
CUI: C0265233
Disease: Cryptophthalmos syndrome
Cryptophthalmos syndrome 		8 0 3 0.14 0 0
CUI: C0238394
Disease: Female Pseudohermaphroditism
Female Pseudohermaphroditism 		10 0 3 0.12 0 0
CUI: C0266231
Disease: Ectopic anus
Ectopic anus 		20 0 4 0.12 0 0
CUI: C0023075
Disease: Laryngostenosis
Laryngostenosis 		11 0 3 0.12 0 0
CUI: C4021335
Disease: Short distal phalanx of hallux
Short distal phalanx of hallux 		2 0 2 0.12 0 0
CUI: C4025086
Disease: Irregular metacarpals
Irregular metacarpals 		2 0 2 0.12 0 0
CUI: C1855425
Disease: Marles Greenberg Persaud syndrome
Marles Greenberg Persaud syndrome 		3 0 2 0.11 0 0
CUI: C1856780
Disease: Posterior vertebral hypoplasia
Posterior vertebral hypoplasia 		3 0 2 0.11 0 0
CUI: C4303547
Disease: BNAR syndrome
BNAR syndrome 		3 0 2 0.11 0 0
CUI: C0266111
Disease: Bifid tongue
Bifid tongue 		24 0 4 0.11 0 0
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		4 0 2 0.11 0 0
CUI: C4021260
Disease: Long metacarpals
Long metacarpals 		4 0 2 0.11 0 0
CUI: C4023721
Disease: Abnormal hair pattern
Abnormal hair pattern 		15 0 3 0.10 0 0
CUI: C0339961
Disease: Fungal pneumonia
Fungal pneumonia 		5 0 2 1.0E-01 0 0
CUI: C1321884
Disease: Atresia of vagina
Atresia of vagina 		16 0 3 1.0E-01 0 0
CUI: C4551936
Disease: Anal Stenosis, CTCAE
Anal Stenosis, CTCAE 		27 0 4 1.0E-01 0 0
CUI: C0262374
Disease: Stricture of anus
Stricture of anus 		28 0 4 9.8E-02 0 0