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: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		15 26 7 0.16 2 2.8E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		29 30 8 0.14 5 6.9E-02
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		15 21 6 0.14 5 7.9E-02
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		18 25 6 0.13 2 2.9E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 77 11 0.13 9 7.8E-02
CUI: C1854114
Disease: Short nose
Short nose 		20 23 6 0.12 3 4.5E-02
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		21 24 6 0.12 4 6.0E-02
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 10 0.11 5 3.2E-02
CUI: C1857953
Disease: Deep plantar creases
Deep plantar creases 		5 6 4 0.11 3 6.0E-02
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		26 35 6 0.11 5 6.5E-02
CUI: C0020490
Disease: Hyperopia
Hyperopia 		16 17 5 0.11 4 6.7E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 106 12 0.11 5 3.4E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		37 39 7 0.11 4 4.9E-02
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		17 0 5 0.11 0 0
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		18 32 5 0.10 1 1.3E-02
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		19 18 5 0.10 3 4.8E-02
CUI: C0431447
Disease: Synophrys
Synophrys 		19 23 5 0.10 4 6.1E-02
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		19 38 5 0.10 6 7.6E-02
CUI: C1836047
Disease: Long face
Long face 		11 12 4 9.5E-02 1 1.7E-02
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		23 25 5 9.4E-02 4 5.9E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		35 49 6 9.4E-02 1 1.1E-02
CUI: C1853738
Disease: Long eyelashes
Long eyelashes 		13 17 4 9.1E-02 1 1.6E-02
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		14 14 4 8.9E-02 2 3.4E-02
CUI: C1865014
Disease: Long philtrum
Long philtrum 		15 16 4 8.7E-02 2 3.3E-02
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		15 14 4 8.7E-02 3 5.2E-02