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: C1853738
Disease: Long eyelashes
Long eyelashes 		13 17 7 0.13 6 7.8E-02
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		30 46 9 0.13 13 0.13
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		15 19 7 0.13 10 0.13
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 49 9 0.12 7 6.5E-02
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		19 23 7 0.12 10 0.13
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		31 38 8 0.12 10 0.11
CUI: C0014877
Disease: Esotropia
Esotropia 		33 38 8 0.11 9 9.5E-02
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		33 50 8 0.11 6 5.5E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		63 92 11 0.11 18 0.13
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		14 22 6 0.11 6 7.3E-02
CUI: C0151526
Disease: Premature Birth
Premature Birth 		35 40 8 0.11 8 8.2E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		35 49 8 0.11 8 7.5E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		56 64 10 0.11 10 8.3E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		46 72 9 0.11 6 4.5E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		26 29 7 0.11 6 6.7E-02
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia 		16 18 6 0.11 7 9.1E-02
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		27 45 7 0.11 7 6.7E-02
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 9 0.10 10 8.8E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		61 85 10 0.10 10 7.1E-02
CUI: C0431447
Disease: Synophrys
Synophrys 		19 23 6 0.10 5 6.0E-02
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		19 20 6 0.10 7 8.9E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 16 0.10 13 6.0E-02
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 7 9.9E-02 7 7.3E-02
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		10 11 5 9.8E-02 5 6.9E-02
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		23 25 6 9.5E-02 3 3.4E-02