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: C4021152
Disease: Abnormal CNS myelination
Abnormal CNS myelination 		9 0 1 0.11 0 0
CUI: C1865244
Disease: Shallow orbits
Shallow orbits 		20 0 1 5.0E-02 0 0
CUI: C0221766
Disease: Diastasis recti
Diastasis recti 		22 0 1 4.5E-02 0 0
CUI: C4023018
Disease: Subcortical cerebral atrophy
Subcortical cerebral atrophy 		22 0 1 4.5E-02 0 0
CUI: C0271901
Disease: Microcytic hypochromic anemia (disorder)
Microcytic hypochromic anemia (disorder) 		25 0 1 4.0E-02 0 0
CUI: C0006157
Disease: Breech Presentation
Breech Presentation 		30 0 1 3.3E-02 0 0
CUI: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation 		30 0 1 3.3E-02 0 0
CUI: C0038238
Disease: Steatorrhea
Steatorrhea 		37 0 1 2.7E-02 0 0
CUI: C1855520
Disease: Hyperglycemia, Postprandial
Hyperglycemia, Postprandial 		37 0 1 2.7E-02 0 0
CUI: C0004045
Disease: Asphyxia Neonatorum
Asphyxia Neonatorum 		45 0 1 2.2E-02 0 0
CUI: C0860204
Disease: Cholestatic liver disease
Cholestatic liver disease 		58 0 1 1.7E-02 0 0
CUI: C0456132
Disease: Large fontanelle
Large fontanelle 		77 0 1 1.3E-02 0 0
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		89 0 1 1.1E-02 0 0
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		128 0 1 7.8E-03 0 0
CUI: C0020541
Disease: Portal Hypertension
Portal Hypertension 		167 0 1 6.0E-03 0 0
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		198 0 1 5.1E-03 0 0
CUI: C0239676
Disease: High forehead
High forehead 		211 0 1 4.7E-03 0 0
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		225 0 1 4.4E-03 0 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 0 1 2.7E-03 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 1 2.4E-03 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 0 1 2.3E-03 0 0
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		615 0 1 1.6E-03 0 0
CUI: C0019158
Disease: Hepatitis
Hepatitis 		656 0 1 1.5E-03 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 1 9.9E-04 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 0 1 8.9E-04 0 0