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 0.14 0 0
CUI: C1859449
Disease: Thin long bone diaphyses
Thin long bone diaphyses 		3 0 3 0.14 0 0
CUI: C2037047
Disease: Subretinal pigment epithelium hemorrhage
Subretinal pigment epithelium hemorrhage 		3 0 3 0.14 0 0
CUI: C4476649
Disease: Abnormal apolipoprotein level
Abnormal apolipoprotein level 		3 0 3 0.14 0 0
CUI: C4479387
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC 		3 0 3 0.14 0 0
CUI: C4479409
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID 		3 0 3 0.14 0 0
CUI: C4023610
Disease: Abnormality of the intrinsic pathway
Abnormality of the intrinsic pathway 		4 0 3 0.14 0 0
CUI: C4024871
Disease: Prominent veins on trunk
Prominent veins on trunk 		4 0 3 0.14 0 0
CUI: C4024970
Disease: Thick cerebral cortex
Thick cerebral cortex 		4 0 3 0.14 0 0
CUI: C4476632
Disease: Fragmented elastic fibers in the dermis
Fragmented elastic fibers in the dermis 		4 0 3 0.14 0 0
CUI: C1866487
Disease: Prominent nasolabial fold
Prominent nasolabial fold 		6 0 3 0.12 0 0
CUI: C1859347
Disease: Abnormal subcutaneous fat tissue distribution
Abnormal subcutaneous fat tissue distribution 		9 0 3 0.11 0 0
CUI: C0277828
Disease: Late fontanel closure
Late fontanel closure 		41 0 6 0.11 0 0
CUI: C1836842
Disease: Psychomotor deterioration
Psychomotor deterioration 		13 0 3 9.7E-02 0 0
CUI: C0157742
Disease: Urticaria due to cold and heat
Urticaria due to cold and heat 		2 0 2 9.5E-02 0 0
CUI: C1855648
Disease: KENNY-CAFFEY SYNDROME, TYPE 1
KENNY-CAFFEY SYNDROME, TYPE 1 		2 0 2 9.5E-02 0 0
CUI: C4024890
Disease: Excessive wrinkled skin
Excessive wrinkled skin 		25 0 4 9.5E-02 0 0
CUI: C4316787
Disease: Kenny-Caffey syndrome, type 2
Kenny-Caffey syndrome, type 2 		2 0 2 9.5E-02 0 0
CUI: C1845546
Disease: FG SYNDROME 4 (disorder)
FG SYNDROME 4 (disorder) 		3 0 2 9.1E-02 0 0
CUI: C1845567
Disease: FG SYNDROME 3
FG SYNDROME 3 		3 0 2 9.1E-02 0 0
CUI: C1845902
Disease: FG SYNDROME 2
FG SYNDROME 2 		3 0 2 9.1E-02 0 0
CUI: C1855657
Disease: Calvarial osteosclerosis
Calvarial osteosclerosis 		3 0 2 9.1E-02 0 0
CUI: C1858452
Disease: Thickened calvaria
Thickened calvaria 		27 0 4 9.1E-02 0 0
CUI: C1969680
Disease: High iliac wings
High iliac wings 		3 0 2 9.1E-02 0 0
CUI: C2749688
Disease: Abnormal isoelectric focusing of serum transferrin
Abnormal isoelectric focusing of serum transferrin 		15 0 3 9.1E-02 0 0