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: C0027092
Disease: Myopia
Myopia 		45 52 20 7.6E-02 13 2.9E-02
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		25 25 18 7.4E-02 14 3.3E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		44 76 19 7.3E-02 17 3.6E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		62 83 20 7.2E-02 19 4.0E-02
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		37 94 18 7.0E-02 8 1.6E-02
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		39 59 18 7.0E-02 13 2.8E-02
CUI: C0009806
Disease: Constipation
Constipation 		40 49 18 6.9E-02 12 2.6E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		43 62 18 6.9E-02 16 3.5E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		46 66 18 6.8E-02 17 3.6E-02
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		37 41 17 6.6E-02 10 2.2E-02
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		21 27 16 6.6E-02 15 3.5E-02
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		44 58 17 6.4E-02 10 2.2E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		46 52 17 6.4E-02 6 1.3E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 77 18 6.4E-02 11 2.3E-02
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 16 6.3E-02 13 2.9E-02
CUI: C0013421
Disease: Dystonia
Dystonia 		42 61 16 6.1E-02 12 2.6E-02
CUI: C0016202
Disease: Flatfoot
Flatfoot 		30 38 15 6.0E-02 8 1.8E-02
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		39 48 15 5.7E-02 9 2.0E-02
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 15 5.7E-02 19 4.2E-02
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		23 27 14 5.7E-02 13 3.0E-02
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		25 28 14 5.6E-02 7 1.6E-02
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		28 54 14 5.6E-02 17 3.7E-02
CUI: C0456070
Disease: Growth delay
Growth delay 		31 40 14 5.5E-02 10 2.2E-02
CUI: C0014877
Disease: Esotropia
Esotropia 		33 38 14 5.5E-02 10 2.2E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 49 14 5.4E-02 7 1.5E-02