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: C0027092
Disease: Myopia
Myopia 		45 52 15 0.16 11 8.3E-02
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		15 26 10 0.15 10 9.3E-02
CUI: C0521525
Disease: Short neck
Short neck 		26 29 10 0.13 10 9.0E-02
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 14 0.12 10 5.1E-02
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 12 0.12 14 0.10
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		26 35 9 0.11 7 5.8E-02
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		26 32 9 0.11 11 9.7E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		26 29 9 0.11 4 3.4E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		46 52 11 0.11 5 3.6E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		46 66 11 0.11 18 0.13
CUI: C0013404
Disease: Dyspnea
Dyspnea 		18 21 8 0.11 6 5.6E-02
CUI: C0221358
Disease: Long narrow head
Long narrow head 		19 26 8 0.11 9 8.3E-02
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 10 0.11 6 4.2E-02
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		31 34 9 0.11 6 5.0E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 69 11 0.10 7 4.5E-02
CUI: C2673410
Disease: Small midface
Small midface 		23 24 8 0.10 5 4.5E-02
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		26 34 8 9.9E-02 4 3.3E-02
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		26 31 8 9.9E-02 1 8.2E-03
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		16 19 7 9.7E-02 8 7.8E-02
CUI: C0036572
Disease: Seizures
Seizures 		237 417 26 9.5E-02 22 4.5E-02
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		30 46 8 9.4E-02 11 8.7E-02
CUI: C0018681
Disease: Headache
Headache 		19 23 7 9.3E-02 9 8.5E-02
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		19 21 7 9.3E-02 4 3.7E-02
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		20 24 7 9.2E-02 7 6.4E-02
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		21 27 7 9.1E-02 8 7.2E-02