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: C1837396
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie 		4 0 1 0.25 0 0
CUI: C0027612
Disease: Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 		12 0 1 8.3E-02 0 0
CUI: C1844752
Disease: Butterfly vertebrae
Butterfly vertebrae 		13 0 1 7.7E-02 0 0
CUI: C1850259
Disease: Short tibia
Short tibia 		17 0 1 5.9E-02 0 0
CUI: C0240671
Disease: Partial thromboplastin time increased (finding)
Partial thromboplastin time increased (finding) 		18 0 1 5.6E-02 0 0
CUI: C4317295
Disease: Congenital disorder of glycosylation type 1s
Congenital disorder of glycosylation type 1s 		19 0 1 5.3E-02 0 0
CUI: C0345375
Disease: Congenital hypoplasia of femur
Congenital hypoplasia of femur 		22 0 1 4.5E-02 0 0
CUI: C1832117
Disease: Short humerus
Short humerus 		24 0 1 4.2E-02 0 0
CUI: C0269269
Disease: Inversion of nipple (disorder)
Inversion of nipple (disorder) 		27 0 1 3.7E-02 0 0
CUI: C0744356
Disease: Abnormality of the genital system
Abnormality of the genital system 		36 0 1 2.8E-02 0 0
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		37 0 1 2.7E-02 0 0
CUI: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		42 0 1 2.4E-02 0 0
CUI: C0431659
Disease: Hypoplasia of scrotum
Hypoplasia of scrotum 		57 0 1 1.8E-02 0 0
CUI: C1866730
Disease: Rhizomelia
Rhizomelia 		57 6 1 1.8E-02 2 0.14
CUI: C0426817
Disease: Short ribs
Short ribs 		60 0 1 1.7E-02 0 0
CUI: C1840069
Disease: Sandal gap
Sandal gap 		62 0 1 1.6E-02 0 0
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		67 0 1 1.5E-02 0 0
CUI: C0016522
Disease: Foramen Ovale, Patent
Foramen Ovale, Patent 		73 0 1 1.4E-02 0 0
CUI: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood 		75 0 1 1.3E-02 0 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		85 0 1 1.2E-02 0 0
CUI: C0426421
Disease: Wide nose
Wide nose 		87 0 1 1.1E-02 0 0
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		94 0 1 1.1E-02 0 0
CUI: C0424230
Disease: Motor retardation
Motor retardation 		98 0 1 1.0E-02 0 0
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		102 0 1 9.8E-03 0 0
CUI: C0013604
Disease: Edema
Edema 		126 0 1 7.9E-03 0 0