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: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 77 25 0.27 23 0.19
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 14 0.15 8 7.0E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		30 35 11 0.15 10 0.11
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		23 25 10 0.14 7 8.5E-02
CUI: C0151526
Disease: Premature Birth
Premature Birth 		35 40 11 0.14 10 0.11
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		35 49 11 0.14 11 0.11
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		19 21 9 0.14 5 6.2E-02
CUI: C1854114
Disease: Short nose
Short nose 		20 23 9 0.13 6 7.4E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 192 21 0.13 8 3.2E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 21 0.13 15 7.0E-02
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		15 14 8 0.13 4 5.4E-02
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		25 28 9 0.12 5 5.7E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 24 0.12 13 4.4E-02
CUI: C0521525
Disease: Short neck
Short neck 		26 29 9 0.12 6 6.9E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 69 12 0.12 5 3.9E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		46 52 11 0.12 8 7.4E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		37 39 10 0.12 6 6.2E-02
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		28 34 9 0.12 8 8.9E-02
CUI: C0016202
Disease: Flatfoot
Flatfoot 		30 38 9 0.12 3 3.0E-02
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		21 23 8 0.12 5 6.1E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		31 39 9 0.12 10 0.11
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		31 34 9 0.12 6 6.5E-02
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 10 0.11 8 7.1E-02
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		23 25 8 0.11 3 3.5E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		46 66 10 0.11 10 8.3E-02