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: C1861324
Disease: Short philtrum
Short philtrum 		182 25 38 0.14 1 2.7E-02
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 0 37 0.14 0 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 0 45 0.12 0 0
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		122 14 27 0.12 2 8.0E-02
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 12 32 0.11 1 4.2E-02
CUI: C0521525
Disease: Short neck
Short neck 		288 0 42 0.11 0 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		194 33 32 0.11 1 2.2E-02
CUI: C0024433
Disease: Macrostomia
Macrostomia 		148 0 27 0.11 0 0
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		128 16 25 0.11 1 3.6E-02
CUI: C1835884
Disease: Triangular face
Triangular face 		111 16 23 0.11 1 3.6E-02
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 16 33 0.11 2 7.4E-02
CUI: C0566620
Disease: Nasal voice
Nasal voice 		93 3 21 0.11 1 6.7E-02
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 0 32 0.11 0 0
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		186 20 29 0.10 1 3.1E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 48 0.10 2 3.3E-02
CUI: C0795907
Disease: CONOTRUNCAL ANOMALY FACE SYNDROME
CONOTRUNCAL ANOMALY FACE SYNDROME 		18 0 13 0.10 0 0
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		105 0 21 0.10 0 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 12 28 0.10 1 4.2E-02
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		118 0 22 0.10 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 65 0.10 0 0
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 14 24 1.0E-01 1 3.8E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 49 1.0E-01 4 0.10
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		45 0 15 9.8E-02 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 53 9.5E-02 1 1.3E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 35 9.4E-02 1 2.0E-02