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: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		29 30 7 0.15 6 0.11
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 49 8 0.15 7 9.9E-02
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		14 22 5 0.14 2 4.1E-02
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		6 11 4 0.14 3 8.1E-02
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		15 26 5 0.14 3 5.8E-02
CUI: C1865014
Disease: Long philtrum
Long philtrum 		15 16 5 0.14 4 9.8E-02
CUI: C1835807
Disease: Prominent fingertip pads
Prominent fingertip pads 		7 8 4 0.14 3 8.8E-02
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		9 13 4 0.13 3 7.7E-02
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		10 10 4 0.12 3 8.3E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		37 39 7 0.12 6 9.7E-02
CUI: C0018808
Disease: Heart murmur
Heart murmur 		11 10 4 0.12 2 5.4E-02
CUI: C0221217
Disease: Neck webbing
Neck webbing 		11 19 4 0.12 1 2.1E-02
CUI: C1849089
Disease: Broad forehead
Broad forehead 		11 13 4 0.12 3 7.7E-02
CUI: C0016202
Disease: Flatfoot
Flatfoot 		30 38 6 0.12 3 4.7E-02
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		30 39 6 0.12 5 7.9E-02
CUI: C0281788
Disease: Biventricular hypertrophy
Biventricular hypertrophy 		3 2 3 0.12 2 6.9E-02
CUI: C1861388
Disease: Short 5th metacarpal
Short 5th metacarpal 		3 3 3 0.12 1 3.2E-02
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		23 25 5 0.11 3 5.9E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 77 9 0.11 7 7.1E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		63 92 9 0.11 4 3.4E-02
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		14 16 4 0.11 1 2.3E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		56 64 8 0.11 5 5.7E-02
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		15 16 4 0.11 3 7.1E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		46 66 7 0.11 6 6.7E-02
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		5 5 3 0.11 2 6.2E-02