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: C0009806
Disease: Constipation
Constipation 		40 49 13 0.17 14 0.15
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		21 27 10 0.16 11 0.15
CUI: C0014877
Disease: Esotropia
Esotropia 		33 38 11 0.15 8 9.1E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		56 64 14 0.15 8 7.0E-02
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		19 23 9 0.15 8 0.11
CUI: C1837142
Disease: Poor suck
Poor suck 		28 31 10 0.15 12 0.16
CUI: C1854882
Disease: Absent speech
Absent speech 		46 72 12 0.14 12 0.10
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		18 22 8 0.13 6 8.1E-02
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		28 34 9 0.13 10 0.12
CUI: C0025990
Disease: Micrognathism
Micrognathism 		46 52 11 0.13 8 7.8E-02
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		21 23 8 0.13 7 9.5E-02
CUI: C0920299
Disease: Overriding toe
Overriding toe 		13 13 7 0.12 8 0.13
CUI: C1853738
Disease: Long eyelashes
Long eyelashes 		13 17 7 0.12 7 0.10
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 19 0.12 18 8.8E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		63 92 12 0.12 14 0.10
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 118 14 0.11 15 9.3E-02
CUI: C0016202
Disease: Flatfoot
Flatfoot 		30 38 8 0.11 5 5.5E-02
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		20 24 7 0.11 6 7.9E-02
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 9 0.11 6 5.6E-02
CUI: C0008489
Disease: Chorea
Chorea 		11 14 6 0.11 3 4.3E-02
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 11 0.11 9 5.5E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 69 10 0.11 8 6.7E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 20 0.11 15 5.2E-02
CUI: C0151526
Disease: Premature Birth
Premature Birth 		35 40 8 0.10 7 7.7E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		46 66 9 0.10 10 8.8E-02