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: C1854114
Disease: Short nose
Short nose 		20 23 8 0.20 6 0.13
CUI: C1853241
Disease: Flat face
Flat face 		6 7 5 0.17 4 0.12
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		31 39 8 0.15 6 9.5E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		26 29 7 0.15 6 0.11
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		35 47 8 0.14 5 6.9E-02
CUI: C4021866
Disease: obsolete Abnormal heart morphology
obsolete Abnormal heart morphology 		12 13 5 0.14 3 7.5E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 77 10 0.12 7 7.0E-02
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		8 8 4 0.12 3 8.6E-02
CUI: C3150613
Disease: Long toe
Long toe 		8 8 4 0.12 2 5.6E-02
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		8 8 4 0.12 2 5.6E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 49 7 0.12 5 6.8E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		37 39 7 0.12 2 3.0E-02
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		19 18 5 0.12 1 2.1E-02
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		19 21 5 0.12 4 8.5E-02
CUI: C0024433
Disease: Macrostomia
Macrostomia 		10 11 4 0.11 1 2.5E-02
CUI: C0241240
Disease: Tall stature
Tall stature 		11 14 4 0.11 3 7.3E-02
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		12 13 4 0.11 4 0.10
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		23 25 5 0.11 5 1.0E-01
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		13 33 4 0.11 2 3.3E-02
CUI: C0151526
Disease: Premature Birth
Premature Birth 		35 40 6 0.10 3 4.5E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		35 49 6 0.10 3 3.9E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		46 72 7 0.10 2 2.0E-02
CUI: C0239676
Disease: High forehead
High forehead 		14 17 4 0.10 1 2.2E-02
CUI: C0004106
Disease: Astigmatism
Astigmatism 		15 14 4 1.0E-01 1 2.3E-02
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		15 26 4 1.0E-01 1 1.8E-02