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: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		86 0 28 0.19 0 0
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		93 0 28 0.19 0 0
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		207 0 44 0.18 0 0
CUI: C4023786
Disease: Elevated levels of phytanic acid
Elevated levels of phytanic acid 		15 0 15 0.17 0 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		97 0 27 0.17 0 0
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		186 0 40 0.17 0 0
CUI: C1853241
Disease: Flat face
Flat face 		83 0 24 0.17 0 0
CUI: C0282525
Disease: Adrenoleukodystrophy, Neonatal
Adrenoleukodystrophy, Neonatal 		18 0 14 0.16 0 0
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		18 0 14 0.16 0 0
CUI: C0156394
Disease: Hypertrophy of clitoris
Hypertrophy of clitoris 		63 0 20 0.16 0 0
CUI: C1859126
Disease: Stippled epiphyses
Stippled epiphyses 		28 0 15 0.15 0 0
CUI: C0544755
Disease: Genu varum
Genu varum 		60 0 19 0.15 0 0
CUI: C1303007
Disease: Brushfield spots
Brushfield spots 		14 0 13 0.15 0 0
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		69 0 20 0.15 0 0
CUI: C3279397
Disease: Very long chain fatty acid accumulation
Very long chain fatty acid accumulation 		15 0 13 0.15 0 0
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		71 0 20 0.15 0 0
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold 		58 0 18 0.14 0 0
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility 		84 0 21 0.14 0 0
CUI: C1837402
Disease: Flat occiput
Flat occiput 		45 0 16 0.14 0 0
CUI: C3658299
Disease: Zellweger Spectrum
Zellweger Spectrum 		21 0 13 0.14 0 0
CUI: C0025995
Disease: Micromelia
Micromelia 		104 0 23 0.14 0 0
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		40 0 15 0.14 0 0
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity 		117 0 24 0.13 0 0
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		25 0 13 0.13 0 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 0 31 0.13 0 0