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: C0239234
Disease: Low set ears
Low set ears 		56 64 25 0.27 23 0.19
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		35 49 18 0.23 20 0.19
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		25 28 11 0.14 9 9.4E-02
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		19 38 10 0.14 11 0.11
CUI: C1854114
Disease: Short nose
Short nose 		20 23 10 0.14 8 8.7E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		35 47 11 0.13 9 7.8E-02
CUI: C0151526
Disease: Premature Birth
Premature Birth 		35 40 11 0.13 6 5.4E-02
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 14 0.12 9 4.9E-02
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		37 43 11 0.12 6 5.3E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		37 39 11 0.12 7 6.4E-02
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		19 19 9 0.12 6 6.7E-02
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		19 21 9 0.12 8 8.9E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		29 30 10 0.12 7 7.0E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 106 16 0.12 7 4.0E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		26 29 9 0.11 7 7.1E-02
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		31 34 9 0.11 4 3.7E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		31 39 9 0.11 10 9.4E-02
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		31 34 9 0.11 5 4.7E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		43 49 10 0.10 6 5.0E-02
CUI: C0027092
Disease: Myopia
Myopia 		45 52 10 0.10 2 1.6E-02
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		25 28 8 1.0E-01 2 1.9E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 192 17 1.0E-01 5 1.9E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 27 9.9E-02 4 9.5E-03
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 49 9 9.9E-02 9 7.7E-02
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		15 14 7 9.9E-02 7 8.3E-02