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: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		295 70 174 0.56 51 0.54
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 158 181 0.29 51 0.28
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		78 37 43 0.19 22 0.24
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		119 43 47 0.18 8 7.3E-02
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		99 50 39 0.16 14 0.13
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		255 282 60 0.16 24 7.2E-02
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		234 0 42 0.11 0 0
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla 		113 5 29 0.11 1 1.3E-02
CUI: C0000846
Disease: Agenesis
Agenesis 		161 44 33 0.10 2 1.7E-02
CUI: C4021813
Disease: Oral cleft
Oral cleft 		85 28 25 1.0E-01 3 3.0E-02
CUI: C0020608
Disease: Hypodontia
Hypodontia 		218 0 36 9.7E-02 0 0
CUI: C0302142
Disease: Deformity
Deformity 		350 26 42 8.4E-02 3 3.1E-02
CUI: C0220810
Disease: Congenital defects
Congenital defects 		126 6 24 8.2E-02 2 2.5E-02
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		1098 73 96 8.1E-02 3 2.1E-02
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		39 0 16 7.5E-02 0 0
CUI: C0039075
Disease: Syndactyly
Syndactyly 		127 26 22 7.5E-02 2 2.0E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 53 7.3E-02 4 3.2E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 350 30 7.3E-02 1 2.4E-03
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		291 5 32 7.1E-02 1 1.3E-02
CUI: C0740404
Disease: Limb defects
Limb defects 		67 0 17 7.1E-02 0 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 0 25 7.0E-02 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 41 7.0E-02 1 1.4E-03
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		97 7 18 6.7E-02 2 2.5E-02
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 25 6.4E-02 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 23 27 6.3E-02 1 1.0E-02