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: C0268355
Disease: Cutis Laxa, Autosomal Recessive, Type IIA
Cutis Laxa, Autosomal Recessive, Type IIA 		3 0 3 0.20 0 0
CUI: C1859347
Disease: Abnormal subcutaneous fat tissue distribution
Abnormal subcutaneous fat tissue distribution 		9 0 4 0.20 0 0
CUI: C2037047
Disease: Subretinal pigment epithelium hemorrhage
Subretinal pigment epithelium hemorrhage 		3 0 3 0.20 0 0
CUI: C4317224
Disease: Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type 1q 		9 6 4 0.20 1 6.7E-02
CUI: C4476649
Disease: Abnormal apolipoprotein level
Abnormal apolipoprotein level 		3 0 3 0.20 0 0
CUI: C4479387
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC 		3 0 3 0.20 0 0
CUI: C4479409
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID 		3 0 3 0.20 0 0
CUI: C4023610
Disease: Abnormality of the intrinsic pathway
Abnormality of the intrinsic pathway 		4 0 3 0.19 0 0
CUI: C4024871
Disease: Prominent veins on trunk
Prominent veins on trunk 		4 0 3 0.19 0 0
CUI: C4024970
Disease: Thick cerebral cortex
Thick cerebral cortex 		4 0 3 0.19 0 0
CUI: C4476632
Disease: Fragmented elastic fibers in the dermis
Fragmented elastic fibers in the dermis 		4 0 3 0.19 0 0
CUI: C1866487
Disease: Prominent nasolabial fold
Prominent nasolabial fold 		6 0 3 0.17 0 0
CUI: C4021094
Disease: Type II transferrin isoform profile
Type II transferrin isoform profile 		7 0 3 0.16 0 0
CUI: C4317093
Disease: Reduced factor XI activity
Reduced factor XI activity 		7 1 3 0.16 1 1.0E-01
CUI: C1837899
Disease: Type I transferrin isoform profile
Type I transferrin isoform profile 		16 0 4 0.15 0 0
CUI: C0027612
Disease: Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 		12 0 3 0.12 0 0
CUI: C1832736
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id 		3 0 2 0.12 0 0
CUI: C4476553
Disease: Atrial septal dilatation
Atrial septal dilatation 		3 0 2 0.12 0 0
CUI: C1836842
Disease: Psychomotor deterioration
Psychomotor deterioration 		13 0 3 0.12 0 0
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		102 38 12 0.11 2 4.3E-02
CUI: C4023159
Disease: Reduced factor IX activity
Reduced factor IX activity 		5 0 2 0.11 0 0
CUI: C1840319
Disease: Redundant neck skin
Redundant neck skin 		16 0 3 0.11 0 0
CUI: C4073184
Disease: Thick hair
Thick hair 		16 0 3 0.11 0 0
CUI: C0269269
Disease: Inversion of nipple (disorder)
Inversion of nipple (disorder) 		27 0 4 0.11 0 0
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		27 52 4 0.11 1 1.6E-02