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: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		15 21 11 0.39 17 0.49
CUI: C1843108
Disease: Short palm
Short palm 		11 13 9 0.35 11 0.33
CUI: C1861324
Disease: Short philtrum
Short philtrum 		24 25 6 0.14 7 0.14
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		17 17 5 0.14 4 9.1E-02
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		9 11 4 0.14 5 0.14
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		10 10 4 0.13 4 0.11
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		37 39 7 0.13 4 6.1E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		46 52 8 0.13 6 7.8E-02
CUI: C0431352
Disease: Secondary microcephaly
Secondary microcephaly 		11 20 4 0.13 4 8.5E-02
CUI: C4022765
Disease: Abnormality of the subarachnoid space
Abnormality of the subarachnoid space 		3 4 3 0.12 4 0.13
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		22 27 5 0.12 7 0.14
CUI: C1852464
Disease: Abnormality of the cervical spine
Abnormality of the cervical spine 		4 4 3 0.12 3 9.4E-02
CUI: C4021789
Disease: Abnormality of the vertebral column
Abnormality of the vertebral column 		4 5 3 0.12 3 9.1E-02
CUI: C0086437
Disease: Joint laxity
Joint laxity 		14 15 4 0.12 2 4.5E-02
CUI: C1857482
Disease: Slender finger
Slender finger 		5 5 3 0.12 2 5.9E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		35 49 6 0.11 5 6.7E-02
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia 		16 18 4 0.11 5 0.11
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		26 32 5 0.11 6 0.11
CUI: C0426415
Disease: Large nose
Large nose 		6 7 3 0.11 2 5.6E-02
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae 		6 7 3 0.11 1 2.7E-02
CUI: C1853241
Disease: Flat face
Flat face 		6 7 3 0.11 3 8.6E-02
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		17 19 4 0.11 4 8.7E-02
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		7 17 3 0.11 1 2.1E-02
CUI: C0878660
Disease: Proportionate short stature
Proportionate short stature 		7 11 3 0.11 3 7.7E-02
CUI: C1858085
Disease: Malar flattening
Malar flattening 		7 12 3 0.11 3 7.5E-02