Source: CLINVAR ×
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: C0431447
Disease: Synophrys
Synophrys 		19 23 7 0.17 3 5.1E-02
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		13 33 5 0.13 3 4.3E-02
CUI: C0004106
Disease: Astigmatism
Astigmatism 		15 14 5 0.12 3 6.0E-02
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		16 58 5 0.12 4 4.3E-02
CUI: C0239399
Disease: Short extremities
Short extremities 		7 8 4 0.12 1 2.2E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		26 29 6 0.12 5 7.9E-02
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		18 25 5 0.12 5 8.5E-02
CUI: C1867131
Disease: Broad hallux
Broad hallux 		9 14 4 0.11 2 3.9E-02
CUI: C0016202
Disease: Flatfoot
Flatfoot 		30 38 6 0.11 4 5.5E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		30 35 6 0.11 4 5.7E-02
CUI: C1849089
Disease: Broad forehead
Broad forehead 		11 13 4 0.11 3 6.1E-02
CUI: C0039075
Disease: Syndactyly
Syndactyly 		13 13 4 0.10 3 6.1E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		56 64 8 0.10 1 9.8E-03
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		37 39 6 9.8E-02 4 5.4E-02
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		15 26 4 9.8E-02 3 4.8E-02
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		15 18 4 9.8E-02 2 3.6E-02
CUI: C1865014
Disease: Long philtrum
Long philtrum 		15 16 4 9.8E-02 3 5.8E-02
CUI: C0497406
Disease: Overweight
Overweight 		4 3 3 9.7E-02 2 5.0E-02
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		5 5 3 9.4E-02 1 2.3E-02
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		5 6 3 9.4E-02 2 4.7E-02
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		5 7 3 9.4E-02 2 4.5E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 106 10 9.3E-02 7 5.1E-02
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 6 9.2E-02 4 4.4E-02
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect 		6 7 3 9.1E-02 1 2.2E-02
CUI: C0349588
Disease: Short stature
Short stature 		190 292 18 8.9E-02 15 4.7E-02