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: C1845847
Disease: Coarse facial features
Coarse facial features 		194 0 1 5.2E-03 0 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 0 1 4.6E-03 0 0
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		217 0 1 4.6E-03 0 0
CUI: C3888194
Disease: MIXED LINEAGE LEUKEMIA
MIXED LINEAGE LEUKEMIA 		240 0 1 4.2E-03 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 350 1 4.0E-03 1 2.8E-03
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms 		261 0 1 3.8E-03 0 0
CUI: C0751690
Disease: Malignant Peripheral Nerve Sheath Tumor
Malignant Peripheral Nerve Sheath Tumor 		261 0 1 3.8E-03 0 0
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		274 0 1 3.6E-03 0 0
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		355 0 1 2.8E-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: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 1 2.4E-03 0 0
CUI: C0009806
Disease: Constipation
Constipation 		424 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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 1 2.3E-03 1 1.6E-03
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma 		472 0 1 2.1E-03 0 0
CUI: C1292769
Disease: Precursor B-cell lymphoblastic leukemia
Precursor B-cell lymphoblastic leukemia 		478 0 1 2.1E-03 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 1 2.0E-03 0 0
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		535 0 1 1.9E-03 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 1 1.7E-03 0 0
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		593 0 1 1.7E-03 0 0
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		593 0 1 1.7E-03 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 0 1 1.7E-03 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 1 1.6E-03 0 0
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		615 0 1 1.6E-03 0 0