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: C0014877
Disease: Esotropia
Esotropia 		33 38 15 6.6E-02 12 2.7E-02
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		39 48 15 6.4E-02 3 6.6E-03
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		43 49 15 6.3E-02 5 1.1E-02
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		44 58 15 6.2E-02 9 2.0E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		62 83 16 6.2E-02 13 2.7E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		29 30 14 6.2E-02 5 1.1E-02
CUI: C0016202
Disease: Flatfoot
Flatfoot 		30 38 14 6.2E-02 7 1.6E-02
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 15 6.1E-02 9 2.0E-02
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		37 41 14 6.0E-02 11 2.5E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		39 78 14 5.9E-02 8 1.7E-02
CUI: C0009806
Disease: Constipation
Constipation 		40 49 14 5.9E-02 8 1.8E-02
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		24 28 13 5.9E-02 6 1.4E-02
CUI: C0027092
Disease: Myopia
Myopia 		45 52 14 5.8E-02 7 1.5E-02
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		28 54 13 5.8E-02 15 3.3E-02
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		39 59 13 5.5E-02 15 3.3E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		43 62 13 5.4E-02 2 4.2E-03
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		45 62 13 5.3E-02 18 4.0E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		26 29 12 5.3E-02 7 1.6E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		46 66 13 5.3E-02 8 1.7E-02
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		30 39 12 5.2E-02 5 1.1E-02
CUI: C0014544
Disease: Epilepsy
Epilepsy 		32 36 12 5.2E-02 10 2.3E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		35 47 12 5.1E-02 6 1.3E-02
CUI: C0151526
Disease: Premature Birth
Premature Birth 		35 40 12 5.1E-02 4 8.9E-03
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		35 49 12 5.1E-02 4 8.8E-03
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		37 94 12 5.1E-02 6 1.2E-02