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: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 49 14 6.6E-02 10 3.0E-02
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		37 43 14 6.6E-02 12 3.7E-02
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		39 59 14 6.5E-02 10 2.9E-02
CUI: C0009806
Disease: Constipation
Constipation 		40 49 14 6.5E-02 9 2.7E-02
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 93 16 6.5E-02 7 1.9E-02
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 240 21 6.3E-02 1 1.9E-03
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		35 49 13 6.1E-02 11 3.3E-02
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		21 23 12 6.0E-02 6 1.9E-02
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		39 48 13 6.0E-02 6 1.8E-02
CUI: C2673410
Disease: Small midface
Small midface 		23 24 12 6.0E-02 10 3.3E-02
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 13 6.0E-02 15 4.5E-02
CUI: C0575802
Disease: Small hand
Small hand 		24 31 12 5.9E-02 13 4.2E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		43 62 13 5.9E-02 13 3.8E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		46 52 13 5.8E-02 7 2.1E-02
CUI: C0016202
Disease: Flatfoot
Flatfoot 		30 38 12 5.8E-02 7 2.2E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		30 35 12 5.8E-02 8 2.5E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		43 49 12 5.4E-02 10 3.0E-02
CUI: C1861324
Disease: Short philtrum
Short philtrum 		24 25 11 5.4E-02 11 3.6E-02
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		25 28 11 5.4E-02 7 2.2E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		46 72 12 5.4E-02 12 3.4E-02
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		31 34 11 5.2E-02 9 2.8E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 69 12 5.2E-02 3 8.4E-03
CUI: C0239234
Disease: Low set ears
Low set ears 		56 64 12 5.1E-02 8 2.3E-02
CUI: C1865014
Disease: Long philtrum
Long philtrum 		15 16 10 5.1E-02 3 9.8E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus 		62 83 12 5.0E-02 11 3.0E-02