Source: CURATED ×
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: C0008519
Disease: Ectopic Tissue
Ectopic Tissue 		0 4 0 0 1 0.25
CUI: C0009451
Disease: Communicating Hydrocephalus
Communicating Hydrocephalus 		0 1 0 0 1 1.00
CUI: C0009806
Disease: Constipation
Constipation 		0 49 0 0 1 2.0E-02
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0 24 0 0 1 4.2E-02
CUI: C0027092
Disease: Myopia
Myopia 		0 104 0 0 1 9.6E-03
CUI: C0029128
Disease: Optic Disk Drusen
Optic Disk Drusen 		0 3 0 0 1 0.33
CUI: C0036572
Disease: Seizures
Seizures 		0 417 0 0 1 2.4E-03
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		0 20 0 0 1 5.0E-02
CUI: C0151526
Disease: Premature Birth
Premature Birth 		0 50 0 0 1 2.0E-02
CUI: C0152207
Disease: Alternating Exotropia
Alternating Exotropia 		0 1 0 0 1 1.00
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		0 11 0 0 1 9.1E-02
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		0 6 0 0 1 0.17
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0 26 0 0 1 3.8E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		0 64 0 0 1 1.6E-02
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		0 19 0 0 1 5.3E-02
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia 		0 3 0 0 1 0.33
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0 49 0 0 1 2.0E-02
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		0 19 0 0 1 5.3E-02
CUI: C0431369
Disease: Dysgenesis of corpus callosum
Dysgenesis of corpus callosum 		0 3 0 0 1 0.33
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0 192 0 0 1 5.2E-03
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		0 21 0 0 1 4.8E-02
CUI: C0566899
Disease: Small labia majora
Small labia majora 		0 3 0 0 1 0.33
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		0 7 0 0 1 0.14
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		0 19 0 0 1 5.3E-02
CUI: C1835764
Disease: Vertebral arch anomaly
Vertebral arch anomaly 		0 1 0 0 1 1.00