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: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		28 39 9 0.11 18 0.17
CUI: C0014877
Disease: Esotropia
Esotropia 		33 38 9 0.10 9 8.0E-02
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		23 27 8 0.10 7 6.8E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		46 72 10 0.10 11 7.6E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		61 85 11 9.8E-02 12 7.7E-02
CUI: C0015310
Disease: Exotropia
Exotropia 		17 21 7 9.7E-02 7 7.2E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 32 9.6E-02 33 5.9E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		43 49 9 9.4E-02 9 7.3E-02
CUI: C0042798
Disease: Low Vision
Low Vision 		32 41 8 9.3E-02 9 7.8E-02
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 8 9.3E-02 8 7.1E-02
CUI: C0271385
Disease: Horizontal Nystagmus
Horizontal Nystagmus 		9 11 6 9.2E-02 5 5.6E-02
CUI: C0013362
Disease: Dysarthria
Dysarthria 		34 42 8 9.1E-02 14 0.13
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata 		10 9 6 9.1E-02 4 4.5E-02
CUI: C0013595
Disease: Eczema
Eczema 		15 18 6 8.5E-02 4 4.1E-02
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		15 17 6 8.5E-02 5 5.3E-02
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		18 23 6 8.1E-02 2 1.9E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		45 62 8 8.1E-02 9 6.6E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 29 7.9E-02 20 3.1E-02
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		21 27 6 7.8E-02 8 7.8E-02
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		37 41 7 7.6E-02 4 3.3E-02
CUI: C0040485
Disease: Torticollis
Torticollis 		9 8 5 7.6E-02 3 3.4E-02
CUI: C0006157
Disease: Breech Presentation
Breech Presentation 		10 11 5 7.5E-02 5 5.6E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		39 78 7 7.4E-02 9 5.9E-02
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		25 25 6 7.4E-02 4 3.8E-02
CUI: C0013421
Disease: Dystonia
Dystonia 		42 61 7 7.2E-02 9 6.7E-02