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: C3150613
Disease: Long toe
Long toe 		24 8 5 3.4E-02 4 0.16
CUI: C1854114
Disease: Short nose
Short nose 		265 23 33 9.1E-02 6 0.16
CUI: C0239676
Disease: High forehead
High forehead 		211 17 31 0.10 5 0.15
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity 		117 5 18 7.9E-02 3 0.13
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 50 0.11 8 0.13
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 23 32 0.12 5 0.13
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 16 9 4.4E-02 4 0.12
CUI: C4023808
Disease: Hyperextensibility at elbow
Hyperextensibility at elbow 		11 7 5 3.7E-02 3 0.12
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		68 8 10 5.3E-02 3 0.12
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 39 0.10 6 0.11
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		106 20 11 4.9E-02 4 0.11
CUI: C0024636
Disease: Malocclusion
Malocclusion 		128 10 19 8.0E-02 3 0.11
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		96 11 17 8.2E-02 3 0.10
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		123 13 12 5.0E-02 3 9.7E-02
CUI: C0574974
Disease: Finger joint hypermobility
Finger joint hypermobility 		3 2 2 1.5E-02 2 9.5E-02
CUI: C1861869
Disease: Underdeveloped supraorbital ridges
Underdeveloped supraorbital ridges 		53 2 9 5.2E-02 2 9.5E-02
CUI: C0332615
Disease: Myopathic facies
Myopathic facies 		44 15 7 4.2E-02 3 9.1E-02
CUI: C1861388
Disease: Short 5th metacarpal
Short 5th metacarpal 		10 3 3 2.2E-02 2 9.1E-02
CUI: C3276036
Disease: High anterior hairline
High anterior hairline 		25 3 4 2.7E-02 2 9.1E-02
CUI: C4072903
Disease: Primary Caesarian section
Primary Caesarian section 		11 15 3 2.2E-02 3 9.1E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 88 0.14 8 8.9E-02
CUI: C0277959
Disease: Coarse hair
Coarse hair 		60 4 10 5.6E-02 2 8.7E-02
CUI: C0426209
Disease: amniotic fluid meconium stained
amniotic fluid meconium stained 		4 4 1 7.6E-03 2 8.7E-02
CUI: C1843300
Disease: Sparse eyelashes
Sparse eyelashes 		60 4 6 3.3E-02 2 8.7E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 38 7.3E-02 4 8.7E-02