Source: ALL
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: C4317146
Disease: Acid reflux
Acid reflux 		50 58 9 0.11 6 5.6E-02
CUI: C1855650
Disease: Birth length less than 3rd percentile
Birth length less than 3rd percentile 		21 13 6 0.11 8 0.13
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		30 46 6 9.2E-02 2 2.0E-02
CUI: C1865572
Disease: Proximal placement of thumb
Proximal placement of thumb 		32 3 6 9.0E-02 1 1.7E-02
CUI: C2673410
Disease: Small midface
Small midface 		23 24 5 8.5E-02 3 3.9E-02
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		181 34 17 8.3E-02 17 0.23
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 15 8.1E-02 20 7.1E-02
CUI: C1836195
Disease: Short toe
Short toe 		56 3 7 7.8E-02 1 1.7E-02
CUI: C1866190
Disease: Atresia of the external auditory canal
Atresia of the external auditory canal 		44 3 6 7.6E-02 1 1.7E-02
CUI: C0920299
Disease: Overriding toe
Overriding toe 		47 13 6 7.3E-02 1 1.5E-02
CUI: C0426209
Disease: amniotic fluid meconium stained
amniotic fluid meconium stained 		4 4 3 7.1E-02 1 1.7E-02
CUI: C4023681
Disease: Delayed fine motor development
Delayed fine motor development 		19 13 4 7.1E-02 3 4.5E-02
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		64 34 7 7.1E-02 7 8.4E-02
CUI: C0432040
Disease: Simple syndactyly of toes, first web space
Simple syndactyly of toes, first web space 		5 3 3 7.0E-02 2 3.5E-02
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		51 29 6 7.0E-02 6 7.6E-02
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		52 7 6 6.9E-02 4 6.8E-02
CUI: C1866806
Disease: Unilateral ptosis
Unilateral ptosis 		6 4 3 6.8E-02 2 3.4E-02
CUI: C3807980
Disease: Apneic episodes in infancy
Apneic episodes in infancy 		6 2 3 6.8E-02 1 1.8E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 13 6.7E-02 12 7.2E-02
CUI: C0575897
Disease: Thumb deformity
Thumb deformity 		8 7 3 6.5E-02 1 1.6E-02
CUI: C1302790
Disease: Congenital malformation syndrome
Congenital malformation syndrome 		57 0 6 6.5E-02 0 0
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		8 266 3 6.5E-02 1 3.1E-03
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		197 21 14 6.2E-02 1 1.3E-02
CUI: C0269269
Disease: Inversion of nipple (disorder)
Inversion of nipple (disorder) 		27 7 4 6.2E-02 2 3.3E-02
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata 		80 9 7 6.1E-02 1 1.6E-02