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: C1854882
Disease: Absent speech
Absent speech 		46 72 11 0.17 15 0.14
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		21 23 7 0.17 6 8.5E-02
CUI: C0152421
Disease: Macrotia
Macrotia 		14 18 5 0.14 3 4.3E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		43 49 8 0.13 5 5.1E-02
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		8 8 4 0.12 2 3.3E-02
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		9 24 4 0.12 6 8.3E-02
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		28 36 6 0.12 2 2.3E-02
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		19 20 5 0.12 5 7.2E-02
CUI: C0431352
Disease: Secondary microcephaly
Secondary microcephaly 		11 20 4 0.11 2 2.8E-02
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		12 13 4 0.11 2 3.1E-02
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		22 27 5 0.11 4 5.2E-02
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		12 14 4 0.11 2 3.0E-02
CUI: C0014877
Disease: Esotropia
Esotropia 		33 38 6 0.11 6 7.0E-02
CUI: C1853738
Disease: Long eyelashes
Long eyelashes 		13 17 4 0.11 4 6.0E-02
CUI: C0151526
Disease: Premature Birth
Premature Birth 		35 40 6 0.11 4 4.4E-02
CUI: C0239676
Disease: High forehead
High forehead 		14 17 4 0.11 1 1.4E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		46 52 7 0.10 3 2.9E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 118 11 0.10 10 6.2E-02
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		4 6 3 0.10 1 1.7E-02
CUI: C0231835
Disease: Tachypnea
Tachypnea 		4 5 3 0.10 4 7.3E-02
CUI: C4025724
Disease: Abnormality of the cerebral ventricles
Abnormality of the cerebral ventricles 		4 5 3 0.10 1 1.7E-02
CUI: C0004106
Disease: Astigmatism
Astigmatism 		15 14 4 0.10 1 1.5E-02
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 0 4 1.0E-01 0 0
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		16 25 4 1.0E-01 4 5.3E-02
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 7 9.9E-02 6 5.7E-02