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: C3280799
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB 		1 0 1 1.00 0 0
CUI: C0268354
Disease: De Barsy syndrome
De Barsy syndrome 		2 0 1 0.50 0 0
CUI: C2751987
Disease: Cutis Laxa, Autosomal Recessive, Type IIB
Cutis Laxa, Autosomal Recessive, Type IIB 		2 0 1 0.50 0 0
CUI: C0432255
Disease: Geroderma osteodysplastica
Geroderma osteodysplastica 		5 0 1 0.20 0 0
CUI: C1837785
Disease: Prominent superficial veins
Prominent superficial veins 		8 0 1 0.12 0 0
CUI: C1836646
Disease: Dermal translucency
Dermal translucency 		10 0 1 1.0E-01 0 0
CUI: C1837761
Disease: Narrow nasal ridge
Narrow nasal ridge 		11 0 1 9.1E-02 0 0
CUI: C1856599
Disease: Beaking of vertebral bodies
Beaking of vertebral bodies 		13 0 1 7.7E-02 0 0
CUI: C1856087
Disease: Biconcave vertebral bodies
Biconcave vertebral bodies 		16 0 1 6.2E-02 0 0
CUI: C3665335
Disease: Cutis laxa, autosomal recessive
Cutis laxa, autosomal recessive 		17 0 1 5.9E-02 0 0
CUI: C0262431
Disease: Compression fracture of vertebral column
Compression fracture of vertebral column 		25 0 1 4.0E-02 0 0
CUI: C0431369
Disease: Dysgenesis of corpus callosum
Dysgenesis of corpus callosum 		25 0 1 4.0E-02 0 0
CUI: C4024890
Disease: Excessive wrinkled skin
Excessive wrinkled skin 		25 0 1 4.0E-02 0 0
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		30 0 1 3.3E-02 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		38 0 1 2.6E-02 0 0
CUI: C1857656
Disease: Prematurely aged appearance
Prematurely aged appearance 		40 0 1 2.5E-02 0 0
CUI: C0221014
Disease: Reactive systemic amyloidosis
Reactive systemic amyloidosis 		41 0 1 2.4E-02 0 0
CUI: C0038522
Disease: Subacute Sclerosing Panencephalitis
Subacute Sclerosing Panencephalitis 		47 0 1 2.1E-02 0 0
CUI: C0581342
Disease: Redundant skin
Redundant skin 		48 0 1 2.1E-02 0 0
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin 		50 0 1 2.0E-02 0 0
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		60 0 1 1.7E-02 0 0
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		63 0 1 1.6E-02 0 0
CUI: C0423867
Disease: Fine hair
Fine hair 		69 0 1 1.4E-02 0 0
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		70 0 1 1.4E-02 0 0
CUI: C0542514
Disease: Blue sclera
Blue sclera 		70 0 1 1.4E-02 0 0