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: C1854114
Disease: Short nose
Short nose 		265 23 79 0.17 2 3.3E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 111 0.17 6 6.2E-02
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		186 20 67 0.17 4 7.3E-02
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		235 0 72 0.16 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 214 0.16 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 98 0.16 4 5.4E-02
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		129 21 56 0.16 3 5.3E-02
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 87 96 0.16 1 8.0E-03
CUI: C0521525
Disease: Short neck
Short neck 		288 29 77 0.16 4 6.2E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 95 0.15 6 9.7E-02
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		109 0 52 0.15 0 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 0 118 0.15 0 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 25 65 0.15 3 4.9E-02
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		168 0 59 0.15 0 0
CUI: C1849089
Disease: Broad forehead
Broad forehead 		133 13 54 0.15 3 6.1E-02
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 66 0.15 0 0
CUI: C0576226
Disease: Short foot
Short foot 		116 0 51 0.15 0 0
CUI: C0239676
Disease: High forehead
High forehead 		211 17 63 0.15 1 1.8E-02
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		274 0 71 0.15 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 167 0.14 0 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 12 57 0.14 2 4.1E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 83 0.14 3 4.2E-02
CUI: C0575802
Disease: Small hand
Small hand 		108 31 47 0.14 4 6.1E-02
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 32 85 0.14 3 4.4E-02
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		104 7 46 0.13 1 2.2E-02