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: C1837899
Disease: Type I transferrin isoform profile
Type I transferrin isoform profile 		16 0 16 0.16 0 0
CUI: C2749688
Disease: Abnormal isoelectric focusing of serum transferrin
Abnormal isoelectric focusing of serum transferrin 		15 10 12 0.11 2 4.3E-02
CUI: C4317295
Disease: Congenital disorder of glycosylation type 1s
Congenital disorder of glycosylation type 1s 		19 0 12 0.11 0 0
CUI: C4317224
Disease: Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type 1q 		9 6 9 8.8E-02 1 2.3E-02
CUI: C0027612
Disease: Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 		12 0 9 8.6E-02 0 0
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		27 52 10 8.4E-02 1 1.1E-02
CUI: C0269269
Disease: Inversion of nipple (disorder)
Inversion of nipple (disorder) 		27 0 9 7.5E-02 0 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		212 0 21 7.2E-02 0 0
CUI: C0035585
Disease: Rickettsia Infections
Rickettsia Infections 		22 0 7 6.0E-02 0 0
CUI: C4317093
Disease: Reduced factor XI activity
Reduced factor XI activity 		7 0 6 5.8E-02 0 0
CUI: C0424230
Disease: Motor retardation
Motor retardation 		98 8 11 5.8E-02 1 2.2E-02
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		118 24 12 5.8E-02 1 1.6E-02
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 0 13 5.4E-02 0 0
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		70 0 8 4.9E-02 0 0
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		136 27 11 4.8E-02 1 1.6E-02
CUI: C4021094
Disease: Type II transferrin isoform profile
Type II transferrin isoform profile 		7 0 5 4.8E-02 0 0
CUI: C2677590
Disease: Congenital Disorder Of Glycosylation, Type In
Congenital Disorder Of Glycosylation, Type In 		9 10 5 4.7E-02 1 2.1E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 46 4.5E-02 0 0
CUI: C1845076
Disease: Lymphoproliferative Syndrome, X-Linked, 2
Lymphoproliferative Syndrome, X-Linked, 2 		14 0 5 4.5E-02 0 0
CUI: C2242710
Disease: Intra-Abdominal Hypertension
Intra-Abdominal Hypertension 		17 0 5 4.4E-02 0 0
CUI: C1848207
Disease: Poor speech
Poor speech 		208 9 13 4.4E-02 1 2.2E-02
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		280 67 16 4.4E-02 1 9.6E-03
CUI: C0240671
Disease: Partial thromboplastin time increased (finding)
Partial thromboplastin time increased (finding) 		18 0 5 4.3E-02 0 0
CUI: C2987145
Disease: Pancreatic Intraepithelial Neoplasia-3
Pancreatic Intraepithelial Neoplasia-3 		19 0 5 4.3E-02 0 0
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		20 0 5 4.3E-02 0 0