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: C0277959
Disease: Coarse hair
Coarse hair 		60 0 15 0.25 0 0
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: 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: C1861873
Disease: Multiple plantar creases
Multiple plantar creases 		3 0 2 0.12 0 0
CUI: C1836842
Disease: Psychomotor deterioration
Psychomotor deterioration 		13 0 3 0.12 0 0
CUI: C0231678
Disease: Ulnar deviation of the wrist
Ulnar deviation of the wrist 		14 9 3 0.11 2 0.20
CUI: C1848850
Disease: Nevus flammeus of the forehead
Nevus flammeus of the forehead 		4 0 2 0.11 0 0
CUI: C1861872
Disease: Multiple palmar creases
Multiple palmar creases 		4 0 2 0.11 0 0
CUI: C4024890
Disease: Excessive wrinkled skin
Excessive wrinkled skin 		25 0 4 0.11 0 0
CUI: C2749688
Disease: Abnormal isoelectric focusing of serum transferrin
Abnormal isoelectric focusing of serum transferrin 		15 0 3 0.11 0 0
CUI: C0796232
Disease: Bohring syndrome
Bohring syndrome 		5 15 2 0.11 1 5.9E-02
CUI: C1840319
Disease: Redundant neck skin
Redundant neck skin 		16 0 3 0.10 0 0
CUI: C4551517
Disease: Flared nostrils abnormality
Flared nostrils abnormality 		6 0 2 1.0E-01 0 0
CUI: C0752244
Disease: Rathke Cleft Cysts
Rathke Cleft Cysts 		7 0 2 9.5E-02 0 0
CUI: C1857953
Disease: Deep plantar creases
Deep plantar creases 		19 0 3 9.4E-02 0 0
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity 		44 0 5 9.1E-02 0 0