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: C1844909
Disease: Recurrent infections in infancy and early childhood
Recurrent infections in infancy and early childhood 		2 2 1 0.50 2 0.50
CUI: C1857485
Disease: Flat forehead
Flat forehead 		11 0 1 9.1E-02 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: C4023343
Disease: Nasogastric tube feeding in infancy
Nasogastric tube feeding in infancy 		12 9 1 8.3E-02 2 0.18
CUI: C2749688
Disease: Abnormal isoelectric focusing of serum transferrin
Abnormal isoelectric focusing of serum transferrin 		15 10 1 6.7E-02 2 0.17
CUI: C0241442
Disease: Protrusion of tongue
Protrusion of tongue 		27 0 1 3.7E-02 0 0
CUI: C0269269
Disease: Inversion of nipple (disorder)
Inversion of nipple (disorder) 		27 0 1 3.7E-02 0 0
CUI: C1446712
Disease: Overlapping fingers
Overlapping fingers 		27 0 1 3.7E-02 0 0
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		36 16 1 2.8E-02 2 0.11
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		36 13 1 2.8E-02 2 0.13
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 1 2.4E-02 2 3.4E-02
CUI: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		42 0 1 2.4E-02 0 0
CUI: C0005697
Disease: Neurogenic Urinary Bladder
Neurogenic Urinary Bladder 		43 0 1 2.3E-02 0 0
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		58 0 1 1.7E-02 0 0
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		59 0 1 1.7E-02 0 0
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		67 0 1 1.5E-02 0 0
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		71 0 1 1.4E-02 0 0
CUI: C3554617
Disease: Adducted thumb
Adducted thumb 		74 0 1 1.4E-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: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		91 0 1 1.1E-02 0 0
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		92 0 1 1.1E-02 0 0
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		95 0 1 1.1E-02 0 0
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		102 0 1 9.8E-03 0 0
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		105 0 1 9.5E-03 0 0