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: C1836195
Disease: Short toe
Short toe 		3 3 3 0.27 1 7.7E-02
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		19 23 4 0.15 4 0.13
CUI: C4025741
Disease: Clinodactyly of the 5th toe
Clinodactyly of the 5th toe 		4 4 2 0.15 2 0.15
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		12 13 3 0.15 3 0.14
CUI: C2712334
Disease: Actual Aspiration
Actual Aspiration 		5 8 2 0.14 2 0.12
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		6 6 2 0.13 1 6.2E-02
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		6 0 2 0.13 0 0
CUI: C0231528
Disease: Myalgia
Myalgia 		6 8 2 0.13 1 5.6E-02
CUI: C0700292
Disease: Hypoxemia
Hypoxemia 		6 7 2 0.13 2 0.12
CUI: C0004106
Disease: Astigmatism
Astigmatism 		15 14 3 0.13 3 0.14
CUI: C1865014
Disease: Long philtrum
Long philtrum 		15 16 3 0.13 1 3.8E-02
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia 		16 18 3 0.12 3 0.12
CUI: C1837731
Disease: Overfolded helix
Overfolded helix 		7 7 2 0.12 1 5.9E-02
CUI: C1848395
Disease: Large for gestational age
Large for gestational age 		8 10 2 0.12 2 0.11
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		18 0 3 0.12 0 0
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding 		9 19 2 0.11 1 3.4E-02
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		9 0 2 0.11 0 0
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		10 0 2 0.11 0 0
CUI: C0024433
Disease: Macrostomia
Macrostomia 		10 0 2 0.11 0 0
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		10 10 2 0.11 2 0.11
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		31 34 4 0.11 2 4.7E-02
CUI: C0014877
Disease: Esotropia
Esotropia 		33 38 4 1.0E-01 4 8.9E-02
CUI: C1843108
Disease: Short palm
Short palm 		11 13 2 1.0E-01 1 4.3E-02
CUI: C1849089
Disease: Broad forehead
Broad forehead 		11 13 2 1.0E-01 1 4.3E-02
CUI: C2673410
Disease: Small midface
Small midface 		23 24 3 9.7E-02 2 6.1E-02