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: C4023721
Disease: Abnormal hair pattern
Abnormal hair pattern 		15 0 4 0.14 0 0
CUI: C4024757
Disease: Malformed lacrimal duct
Malformed lacrimal duct 		3 0 2 0.11 0 0
CUI: C4024773
Disease: Lacrimal duct aplasia
Lacrimal duct aplasia 		3 0 2 0.11 0 0
CUI: C4551480
Disease: FRASER SYNDROME 1
FRASER SYNDROME 1 		3 0 2 0.11 0 0
CUI: C1844537
Disease: Cleft ala nasi
Cleft ala nasi 		4 0 2 0.11 0 0
CUI: C4025412
Disease: Midline nasal groove
Midline nasal groove 		4 0 2 0.11 0 0
CUI: C0311249
Disease: Cryptophthalmos
Cryptophthalmos 		5 0 2 1.0E-01 0 0
CUI: C1857190
Disease: Wide pubic symphysis
Wide pubic symphysis 		5 0 2 1.0E-01 0 0
CUI: C0265233
Disease: Cryptophthalmos syndrome
Cryptophthalmos syndrome 		8 0 2 8.7E-02 0 0
CUI: C1835095
Disease: Macrodontia of permanent maxillary central incisor
Macrodontia of permanent maxillary central incisor 		8 0 2 8.7E-02 0 0
CUI: C0575497
Disease: Short sternum
Short sternum 		9 0 2 8.3E-02 0 0
CUI: C3830518
Disease: Diabetic embryopathy
Diabetic embryopathy 		9 0 2 8.3E-02 0 0
CUI: C0238394
Disease: Female Pseudohermaphroditism
Female Pseudohermaphroditism 		10 0 2 8.0E-02 0 0
CUI: C0023075
Disease: Laryngostenosis
Laryngostenosis 		11 0 2 7.7E-02 0 0
CUI: C4021398
Disease: Metacarpal synostosis
Metacarpal synostosis 		11 0 2 7.7E-02 0 0
CUI: C4551936
Disease: Anal Stenosis, CTCAE
Anal Stenosis, CTCAE 		27 0 3 7.3E-02 0 0
CUI: C0262374
Disease: Stricture of anus
Stricture of anus 		28 0 3 7.1E-02 0 0
CUI: C3276623
Disease: Toenail dysplasia
Toenail dysplasia 		13 0 2 7.1E-02 0 0
CUI: C0206762
Disease: Limb Deformities, Congenital
Limb Deformities, Congenital 		59 0 5 7.0E-02 0 0
CUI: C1866190
Disease: Atresia of the external auditory canal
Atresia of the external auditory canal 		44 0 4 7.0E-02 0 0
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease 		78 0 6 6.7E-02 0 0
CUI: C1321884
Disease: Atresia of vagina
Atresia of vagina 		16 0 2 6.5E-02 0 0
CUI: C0238441
Disease: Subglottic stenosis
Subglottic stenosis 		17 0 2 6.2E-02 0 0
CUI: C0431664
Disease: Unilateral Cryptorchidism
Unilateral Cryptorchidism 		17 5 2 6.2E-02 1 0.20
CUI: C1856119
Disease: Low hanging columella
Low hanging columella 		17 0 2 6.2E-02 0 0