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: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		31 39 10 0.20 10 0.16
CUI: C1854114
Disease: Short nose
Short nose 		20 23 7 0.16 8 0.16
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		35 49 9 0.16 7 9.1E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		56 64 11 0.15 10 0.11
CUI: C0221358
Disease: Long narrow head
Long narrow head 		19 26 6 0.14 7 0.13
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		31 34 7 0.13 6 9.5E-02
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		15 19 5 0.12 6 0.12
CUI: C0431447
Disease: Synophrys
Synophrys 		19 23 5 0.11 4 7.4E-02
CUI: C0009806
Disease: Constipation
Constipation 		40 49 7 0.11 6 7.7E-02
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		30 39 6 0.11 4 5.7E-02
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		31 38 6 0.11 8 0.12
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		13 17 4 0.10 5 0.11
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		25 28 5 1.0E-01 3 5.0E-02
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		15 16 4 9.8E-02 3 6.2E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		61 85 8 9.6E-02 5 4.3E-02
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		16 58 4 9.5E-02 3 3.3E-02
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		28 34 5 9.4E-02 4 6.2E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 77 8 9.4E-02 6 5.7E-02
CUI: C0015310
Disease: Exotropia
Exotropia 		17 21 4 9.3E-02 4 7.7E-02
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		18 25 4 9.1E-02 5 9.1E-02
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		31 34 5 8.9E-02 5 7.8E-02
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		19 19 4 8.9E-02 4 8.0E-02
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		19 21 4 8.9E-02 3 5.7E-02
CUI: C0423318
Disease: Heterochromia iridis
Heterochromia iridis 		7 10 3 8.8E-02 1 2.3E-02
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		7 8 3 8.8E-02 4 0.10