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: C0013421
Disease: Dystonia
Dystonia 		42 61 15 9.9E-02 16 6.8E-02
CUI: C0014877
Disease: Esotropia
Esotropia 		33 38 14 9.8E-02 12 5.5E-02
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		37 41 14 9.5E-02 8 3.6E-02
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		26 25 13 9.5E-02 5 2.4E-02
CUI: C1854301
Disease: Motor delay
Motor delay 		27 34 13 9.4E-02 12 5.6E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		43 49 14 9.2E-02 8 3.4E-02
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		25 25 12 8.8E-02 7 3.3E-02
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 14 8.7E-02 7 2.9E-02
CUI: C4023681
Disease: Delayed fine motor development
Delayed fine motor development 		13 13 11 8.7E-02 7 3.5E-02
CUI: C0009806
Disease: Constipation
Constipation 		40 49 13 8.6E-02 10 4.3E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		30 35 12 8.5E-02 7 3.2E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		45 62 13 8.3E-02 8 3.3E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		46 52 13 8.3E-02 5 2.1E-02
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 12 7.8E-02 6 2.5E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		29 30 11 7.7E-02 3 1.4E-02
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		23 27 10 7.3E-02 3 1.4E-02
CUI: C1384666
Disease: hearing impairment
hearing impairment 		88 257 14 7.1E-02 8 1.8E-02
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		28 54 10 7.0E-02 5 2.1E-02
CUI: C0027092
Disease: Myopia
Myopia 		45 52 11 7.0E-02 8 3.4E-02
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 19 9 6.9E-02 5 2.4E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		37 39 10 6.6E-02 6 2.7E-02
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		21 25 9 6.6E-02 4 1.9E-02
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		21 27 9 6.6E-02 6 2.8E-02
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		22 27 9 6.6E-02 7 3.3E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		39 78 10 6.5E-02 7 2.7E-02