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: C1840077
Disease: Anteverted nostril
Anteverted nostril 		30 35 10 0.20 10 0.16
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		35 49 9 0.16 7 8.6E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		29 30 8 0.15 6 9.5E-02
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		8 8 5 0.15 4 9.3E-02
CUI: C0042798
Disease: Low Vision
Low Vision 		32 41 8 0.15 9 0.13
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		25 28 7 0.14 3 4.7E-02
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		17 19 6 0.14 4 7.4E-02
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		19 18 6 0.14 4 7.5E-02
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		4 7 4 0.13 3 7.0E-02
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		23 22 6 0.12 5 8.9E-02
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		23 25 6 0.12 4 6.7E-02
CUI: C0151526
Disease: Premature Birth
Premature Birth 		35 40 7 0.12 7 9.7E-02
CUI: C0521525
Disease: Short neck
Short neck 		26 29 6 0.12 5 7.9E-02
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia 		17 17 5 0.12 3 5.7E-02
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		17 17 5 0.12 3 5.7E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		56 64 9 0.12 10 0.11
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		19 19 5 0.11 3 5.5E-02
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		19 20 5 0.11 2 3.5E-02
CUI: C1854114
Disease: Short nose
Short nose 		20 23 5 0.11 5 8.8E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 77 9 0.11 10 9.4E-02
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		11 11 4 0.11 3 6.4E-02
CUI: C1836047
Disease: Long face
Long face 		11 12 4 0.11 2 4.1E-02
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		11 73 4 0.11 4 3.7E-02
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		12 153 4 0.10 5 2.7E-02
CUI: C4021866
Disease: obsolete Abnormal heart morphology
obsolete Abnormal heart morphology 		12 13 4 0.10 4 8.3E-02