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: C1866730
Disease: Rhizomelia
Rhizomelia 		57 6 15 0.22 2 0.25
CUI: C0266111
Disease: Bifid tongue
Bifid tongue 		24 0 9 0.21 0 0
CUI: C1849937
Disease: Disproportionate short-limb short stature
Disproportionate short-limb short stature 		35 5 10 0.19 2 0.29
CUI: C4021626
Disease: Lethal skeletal dysplasia
Lethal skeletal dysplasia 		17 0 6 0.16 0 0
CUI: C4020952
Disease: Fingernail dysplasia
Fingernail dysplasia 		11 0 5 0.15 0 0
CUI: C1849343
Disease: Duplication of the distal phalanx of hand
Duplication of the distal phalanx of hand 		4 0 4 0.15 0 0
CUI: C4021772
Disease: Bifid distal phalanx of toe
Bifid distal phalanx of toe 		4 0 4 0.15 0 0
CUI: C4551476
Disease: Robinow Syndrome, Autosomal Dominant
Robinow Syndrome, Autosomal Dominant 		4 0 4 0.15 0 0
CUI: C0025995
Disease: Micromelia
Micromelia 		104 0 16 0.14 0 0
CUI: C1849341
Disease: Triangular mouth
Triangular mouth 		14 0 5 0.14 0 0
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		86 6 13 0.13 2 0.25
CUI: C0266061
Disease: Open Bite
Open Bite 		38 0 7 0.12 0 0
CUI: C1865038
Disease: Broad toe
Broad toe 		11 0 4 0.12 0 0
CUI: C0040457
Disease: Tooth, Supernumerary
Tooth, Supernumerary 		31 0 6 0.12 0 0
CUI: C1854912
Disease: Short long bone
Short long bone 		42 0 7 0.11 0 0
CUI: C1837082
Disease: Metaphyseal cupping
Metaphyseal cupping 		13 0 4 0.11 0 0
CUI: C4551475
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 		3 0 3 0.11 0 0
CUI: C1835473
Disease: Diaphyseal thickening
Diaphyseal thickening 		14 0 4 0.11 0 0
CUI: C4022477
Disease: Onychogryposis of fingernail
Onychogryposis of fingernail 		4 0 3 0.11 0 0
CUI: C0026707
Disease: Mucopolysaccharidosis IV
Mucopolysaccharidosis IV 		28 0 5 1.0E-01 0 0
CUI: C0345371
Disease: Hypoplasia of lower limb
Hypoplasia of lower limb 		6 3 3 1.0E-01 2 0.40
CUI: C0432197
Disease: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome, Verma-Naumoff type 		6 0 3 1.0E-01 0 0
CUI: C1834060
Disease: Short middle phalanx of the 5th finger
Short middle phalanx of the 5th finger 		17 0 4 1.0E-01 0 0
CUI: C1850259
Disease: Short tibia
Short tibia 		17 0 4 1.0E-01 0 0
CUI: C1854409
Disease: Naevus flammeus of the eyelid
Naevus flammeus of the eyelid 		6 0 3 1.0E-01 0 0