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 22 6.2E-02 15 2.4E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		43 62 21 5.9E-02 3 4.7E-03
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		44 58 21 5.8E-02 6 9.5E-03
CUI: C0014877
Disease: Esotropia
Esotropia 		33 38 20 5.7E-02 11 1.8E-02
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		39 59 20 5.6E-02 13 2.1E-02
CUI: C0027092
Disease: Myopia
Myopia 		45 52 20 5.5E-02 9 1.4E-02
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		37 41 18 5.1E-02 8 1.3E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		37 39 18 5.1E-02 8 1.3E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		39 78 18 5.0E-02 18 2.8E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		43 49 18 5.0E-02 8 1.3E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		44 76 18 5.0E-02 6 9.2E-03
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		46 66 18 4.9E-02 10 1.6E-02
CUI: C0016202
Disease: Flatfoot
Flatfoot 		30 38 16 4.6E-02 4 6.5E-03
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		30 46 16 4.6E-02 7 1.1E-02
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		33 50 16 4.5E-02 8 1.3E-02
CUI: C0151526
Disease: Premature Birth
Premature Birth 		35 40 16 4.5E-02 9 1.5E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		46 52 16 4.4E-02 5 8.0E-03
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		26 29 15 4.3E-02 3 5.0E-03
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		28 54 15 4.3E-02 11 1.8E-02
CUI: C0042798
Disease: Low Vision
Low Vision 		32 41 15 4.2E-02 10 1.6E-02
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 15 4.2E-02 6 9.8E-03
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		37 43 15 4.2E-02 5 8.1E-03
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		37 94 15 4.2E-02 2 3.0E-03
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		39 51 15 4.2E-02 5 8.0E-03
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		21 22 14 4.1E-02 5 8.4E-03