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: C0563243
Disease: Poor coordination
Poor coordination 		8 8 4 9.1E-02 3 5.6E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		44 76 7 9.1E-02 3 2.5E-02
CUI: C0014877
Disease: Esotropia
Esotropia 		33 38 6 9.0E-02 5 6.1E-02
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		21 25 5 8.9E-02 4 5.7E-02
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		21 22 5 8.9E-02 5 7.6E-02
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		21 27 5 8.9E-02 6 8.6E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		46 52 7 8.9E-02 3 3.1E-02
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		22 27 5 8.8E-02 4 5.6E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 192 13 8.6E-02 10 4.3E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 118 10 8.4E-02 8 5.0E-02
CUI: C0003467
Disease: Anxiety
Anxiety 		13 20 4 8.2E-02 4 6.2E-02
CUI: C0013132
Disease: Drooling
Drooling 		14 14 4 8.0E-02 4 6.8E-02
CUI: C0152421
Disease: Macrotia
Macrotia 		14 18 4 8.0E-02 1 1.5E-02
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		28 34 5 7.9E-02 3 3.7E-02
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		28 54 5 7.9E-02 7 7.3E-02
CUI: C0004106
Disease: Astigmatism
Astigmatism 		15 14 4 7.8E-02 3 5.0E-02
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		15 0 4 7.8E-02 0 0
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		15 19 4 7.8E-02 4 6.2E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		29 30 5 7.8E-02 3 3.9E-02
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		16 19 4 7.7E-02 4 6.2E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		45 62 6 7.6E-02 6 5.7E-02
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		17 21 4 7.5E-02 4 6.1E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 24 7.5E-02 18 3.4E-02
CUI: C0231835
Disease: Tachypnea
Tachypnea 		4 5 3 7.3E-02 4 8.0E-02
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		19 21 4 7.3E-02 3 4.5E-02