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: C1853638
Disease: Broad neck
Broad neck 		4 10 4 0.21 2 7.7E-02
CUI: C0521525
Disease: Short neck
Short neck 		26 29 7 0.18 5 0.12
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		18 22 5 0.16 2 5.3E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		37 39 7 0.14 4 7.5E-02
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		14 22 4 0.14 2 5.3E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		31 39 6 0.14 4 7.5E-02
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		6 7 3 0.14 2 8.7E-02
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		6 0 3 0.14 0 0
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		16 17 4 0.13 3 9.4E-02
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		25 28 5 0.13 1 2.2E-02
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		17 19 4 0.12 2 5.7E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		29 30 5 0.12 1 2.1E-02
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		10 11 3 0.12 2 7.4E-02
CUI: C1854114
Disease: Short nose
Short nose 		20 23 4 0.11 1 2.5E-02
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		11 11 3 0.11 1 3.6E-02
CUI: C0221217
Disease: Neck webbing
Neck webbing 		11 19 3 0.11 1 2.8E-02
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		11 11 3 0.11 1 3.6E-02
CUI: C1867873
Disease: Failure to thrive in infancy
Failure to thrive in infancy 		11 12 3 0.11 3 0.11
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		12 13 3 0.11 1 3.3E-02
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		23 25 4 0.11 2 4.9E-02
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		2 0 2 0.11 0 0
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		2 9 2 0.11 1 3.8E-02
CUI: C1836933
Disease: Low-set nipples
Low-set nipples 		2 0 2 0.11 0 0
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		2 1 2 0.11 1 5.6E-02
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		13 17 3 0.10 2 6.1E-02