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: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 77 18 0.23 20 0.19
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		17 19 9 0.21 8 0.13
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		9 9 7 0.19 5 9.4E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 49 11 0.18 9 0.10
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		19 21 8 0.17 8 0.13
CUI: C1854114
Disease: Short nose
Short nose 		20 23 8 0.17 6 9.1E-02
CUI: C0151526
Disease: Premature Birth
Premature Birth 		35 40 10 0.17 7 8.5E-02
CUI: C0239676
Disease: High forehead
High forehead 		14 17 7 0.17 8 0.14
CUI: C0004106
Disease: Astigmatism
Astigmatism 		15 14 7 0.16 4 6.8E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		30 35 9 0.16 7 9.1E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		31 39 9 0.16 7 8.6E-02
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		17 19 7 0.16 5 7.9E-02
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		6 11 5 0.14 1 1.7E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		56 64 11 0.14 11 0.11
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		23 22 7 0.14 5 7.6E-02
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		9 11 5 0.13 5 9.1E-02
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		18 25 6 0.13 3 4.2E-02
CUI: C1837142
Disease: Poor suck
Poor suck 		28 31 7 0.12 6 8.1E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		37 39 8 0.12 5 6.0E-02
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		11 73 5 0.12 8 7.0E-02
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		21 25 6 0.12 1 1.4E-02
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		21 23 6 0.12 5 7.5E-02
CUI: C0018916
Disease: Hemangioma
Hemangioma 		12 15 5 0.12 2 3.2E-02
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		12 153 5 0.12 7 3.6E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		61 85 10 0.12 5 3.9E-02