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: C0003537
Disease: Aphasia
Aphasia 		0 2 0 0 1 0.25
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0 181 0 0 1 5.5E-03
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0 12 0 0 1 7.1E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0 48 0 0 1 2.0E-02
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0 44 0 0 1 2.2E-02
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0 39 0 0 1 2.4E-02
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0 11 0 0 1 7.7E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0 120 0 0 1 8.2E-03
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0 62 0 0 1 1.6E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		0 85 0 0 1 1.1E-02
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0 19 0 0 1 4.8E-02
CUI: C0152421
Disease: Macrotia
Macrotia 		0 18 0 0 1 5.0E-02
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		0 17 0 0 1 5.3E-02
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		0 34 0 0 1 2.8E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		0 64 0 0 1 1.5E-02
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		0 13 0 0 1 6.7E-02
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		0 3 0 0 1 0.20
CUI: C0265695
Disease: Congenital fusion of ribs
Congenital fusion of ribs 		0 2 0 0 1 0.25
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney 		0 6 0 0 1 0.12
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		0 19 0 0 1 4.8E-02
CUI: C0270790
Disease: Quadriparesis
Quadriparesis 		0 4 0 0 1 0.17
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		0 32 0 0 1 2.9E-02
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		0 18 0 0 1 5.0E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0 49 0 0 1 2.0E-02
CUI: C0349588
Disease: Short stature
Short stature 		0 292 0 0 2 6.8E-03