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 0.19 0 0
CUI: C2037047
Disease: Subretinal pigment epithelium hemorrhage
Subretinal pigment epithelium hemorrhage 		3 0 3 0.19 0 0
CUI: C2675547
Disease: Slender long bones with narrow diaphyses
Slender long bones with narrow diaphyses 		3 0 3 0.19 0 0
CUI: C4476649
Disease: Abnormal apolipoprotein level
Abnormal apolipoprotein level 		3 0 3 0.19 0 0
CUI: C4479387
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC 		3 0 3 0.19 0 0
CUI: C4479409
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID 		3 0 3 0.19 0 0
CUI: C4023610
Disease: Abnormality of the intrinsic pathway
Abnormality of the intrinsic pathway 		4 0 3 0.18 0 0
CUI: C4024871
Disease: Prominent veins on trunk
Prominent veins on trunk 		4 0 3 0.18 0 0
CUI: C4024970
Disease: Thick cerebral cortex
Thick cerebral cortex 		4 0 3 0.18 0 0
CUI: C4476632
Disease: Fragmented elastic fibers in the dermis
Fragmented elastic fibers in the dermis 		4 0 3 0.18 0 0
CUI: C1866487
Disease: Prominent nasolabial fold
Prominent nasolabial fold 		6 0 3 0.16 0 0
CUI: C1859347
Disease: Abnormal subcutaneous fat tissue distribution
Abnormal subcutaneous fat tissue distribution 		9 0 3 0.14 0 0
CUI: C0426808
Disease: Long clavicle
Long clavicle 		10 0 3 0.13 0 0
CUI: C0747651
Disease: Recurrent aspiration pneumonia
Recurrent aspiration pneumonia 		11 0 3 0.12 0 0
CUI: C1859361
Disease: Twelfth rib hypoplasia
Twelfth rib hypoplasia 		2 0 2 0.12 0 0
CUI: C4022717
Disease: Narrow nasal base
Narrow nasal base 		2 0 2 0.12 0 0
CUI: C4023557
Disease: Abnormality of dental structure
Abnormality of dental structure 		2 0 2 0.12 0 0
CUI: C4024048
Disease: Aplasia of the distal phalanx of the hallux
Aplasia of the distal phalanx of the hallux 		2 0 2 0.12 0 0
CUI: C4024076
Disease: Aplasia/hypoplasia of the 1st metatarsal
Aplasia/hypoplasia of the 1st metatarsal 		2 0 2 0.12 0 0
CUI: C4024110
Disease: Abnormality of the 5th metacarpal
Abnormality of the 5th metacarpal 		2 0 2 0.12 0 0
CUI: C4024173
Disease: Aplasia of the distal phalanges of the hand
Aplasia of the distal phalanges of the hand 		2 0 2 0.12 0 0
CUI: C4024621
Disease: Early ossification of capital femoral epiphyses
Early ossification of capital femoral epiphyses 		2 0 2 0.12 0 0
CUI: C4024991
Disease: Aplasia/Hypoplasia of the scapulae
Aplasia/Hypoplasia of the scapulae 		2 0 2 0.12 0 0
CUI: C4531024
Disease: Subretinal deposits
Subretinal deposits 		2 0 2 0.12 0 0
CUI: C1851130
Disease: Small cervical vertebral bodies
Small cervical vertebral bodies 		3 0 2 0.12 0 0