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: C1834386
Disease: Hypoplasia of first ribs
Hypoplasia of first ribs 		3 0 2 0.33 0 0
CUI: C1861373
Disease: Y-shaped metacarpals
Y-shaped metacarpals 		3 0 2 0.33 0 0
CUI: C1969178
Disease: Mesomelic leg shortening
Mesomelic leg shortening 		3 0 2 0.33 0 0
CUI: C0685775
Disease: Congenital absence of jaw
Congenital absence of jaw 		5 0 2 0.25 0 0
CUI: C0026363
Disease: Mohr Syndrome
Mohr Syndrome 		6 0 2 0.22 0 0
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		6 0 2 0.22 0 0
CUI: C0265878
Disease: Preductal coarctation of aorta
Preductal coarctation of aorta 		1 0 1 0.20 0 0
CUI: C0268875
Disease: Urethrorectal fistula
Urethrorectal fistula 		1 0 1 0.20 0 0
CUI: C0276161
Disease: Subacute adenoviral encephalitis
Subacute adenoviral encephalitis 		1 0 1 0.20 0 0
CUI: C0431527
Disease: Laryngeal hypoplasia
Laryngeal hypoplasia 		7 0 2 0.20 0 0
CUI: C1841686
Disease: Absent hallux
Absent hallux 		1 0 1 0.20 0 0
CUI: C1849307
Disease: Increased density of long bones
Increased density of long bones 		1 0 1 0.20 0 0
CUI: C1849309
Disease: Wide distal femoral metaphysis
Wide distal femoral metaphysis 		1 0 1 0.20 0 0
CUI: C1855000
Disease: Agenesis of central incisor
Agenesis of central incisor 		1 0 1 0.20 0 0
CUI: C1855003
Disease: Bilateral postaxial polydactyly
Bilateral postaxial polydactyly 		1 0 1 0.20 0 0
CUI: C1860119
Disease: Acrofacial dysostosis Rodriguez type
Acrofacial dysostosis Rodriguez type 		1 0 1 0.20 0 0
CUI: C1868111
Disease: Polydactyly, preaxial 4
Polydactyly, preaxial 4 		1 0 1 0.20 0 0
CUI: C1968943
Disease: Rudimentary to absent tibiae
Rudimentary to absent tibiae 		1 0 1 0.20 0 0
CUI: C2931889
Disease: Oral-facial-digital syndrome, type 2
Oral-facial-digital syndrome, type 2 		1 0 1 0.20 0 0
CUI: C3494423
Disease: Maxillary Retroposition
Maxillary Retroposition 		1 0 1 0.20 0 0
CUI: C3494424
Disease: Maxillary Retrusion
Maxillary Retrusion 		1 0 1 0.20 0 0
CUI: C3494425
Disease: Mandibular Retroposition
Mandibular Retroposition 		1 0 1 0.20 0 0
CUI: C3494426
Disease: Mandibular Retrusion
Mandibular Retrusion 		1 0 1 0.20 0 0
CUI: C3806516
Disease: Disproportionate shortening of the tibia
Disproportionate shortening of the tibia 		1 0 1 0.20 0 0
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		1 0 1 0.20 0 0