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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 0 1 4.2E-03 0 0
CUI: C0003537
Disease: Aphasia
Aphasia 		2 0 1 0.50 0 0
CUI: C0009806
Disease: Constipation
Constipation 		40 0 1 2.5E-02 0 0
CUI: C0014877
Disease: Esotropia
Esotropia 		33 38 1 3.0E-02 1 2.6E-02
CUI: C0019572
Disease: Hirsutism
Hirsutism 		12 13 1 8.3E-02 1 7.7E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 77 1 1.6E-02 1 1.3E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		46 52 1 2.2E-02 1 1.9E-02
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 0 1 1.4E-02 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 0 1 6.2E-03 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 1 3.0E-03 1 1.7E-03
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		28 0 1 3.6E-02 0 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		10 0 1 1.0E-01 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		43 0 1 2.3E-02 0 0
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		6 0 1 0.17 0 0
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		21 0 1 4.8E-02 0 0
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		15 0 1 6.7E-02 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		16 0 1 6.2E-02 0 0
CUI: C0152421
Disease: Macrotia
Macrotia 		14 18 1 7.1E-02 1 5.6E-02
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		16 0 1 6.2E-02 0 0
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		28 0 1 3.6E-02 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		56 0 1 1.8E-02 0 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		12 0 1 8.3E-02 0 0
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		17 0 1 5.9E-02 0 0
CUI: C0270790
Disease: Quadriparesis
Quadriparesis 		4 0 1 0.25 0 0
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		26 0 1 3.8E-02 0 0