Source: ALL
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: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		1098 0 1 9.1E-04 0 0
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		355 0 1 2.8E-03 0 0
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		255 0 1 3.9E-03 0 0
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		137 0 1 7.3E-03 0 0
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		446 0 1 2.2E-03 0 0
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		406 0 1 2.5E-03 0 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 0 1 2.3E-03 0 0
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		208 0 1 4.8E-03 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 1 1.7E-03 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 1 9.4E-04 0 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		337 0 1 3.0E-03 0 0
CUI: C0027651
Disease: Neoplasms
Neoplasms 		10161 0 1 9.8E-05 0 0
CUI: C0152419
Disease: Interrupted aortic arch
Interrupted aortic arch 		13 0 1 7.7E-02 0 0
CUI: C0162429
Disease: Malnutrition
Malnutrition 		417 0 1 2.4E-03 0 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 0 1 2.2E-03 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 1 2.0E-03 0 0
CUI: C0239815
Disease: Hand clenching
Hand clenching 		26 0 1 3.8E-02 0 0
CUI: C0241816
Disease: Global brain atrophy
Global brain atrophy 		41 0 1 2.4E-02 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 1 2.6E-03 0 0
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		168 0 1 6.0E-03 0 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 1 3.7E-03 2 1.9E-02
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		584 0 1 1.7E-03 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 0 1 5.7E-03 0 0
CUI: C0456070
Disease: Growth delay
Growth delay 		244 0 1 4.1E-03 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 1 5.5E-04 2 3.6E-03