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: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome 		16 0 6 0.29 0 0
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome 		20 0 6 0.24 0 0
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome 		21 0 6 0.23 0 0
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		29 0 6 0.18 0 0
CUI: C0432195
Disease: Short rib dysplasia
Short rib dysplasia 		5 0 2 0.14 0 0
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease 		5 0 2 0.14 0 0
CUI: C2910340
Disease: Asphyxiating thoracic dysplasia [Jeune]
Asphyxiating thoracic dysplasia [Jeune] 		5 0 2 0.14 0 0
CUI: C0426805
Disease: Hooked clavicle
Hooked clavicle 		14 0 3 0.14 0 0
CUI: C0432197
Disease: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome, Verma-Naumoff type 		6 0 2 0.13 0 0
CUI: C0432198
Disease: Short rib-polydactyly syndrome, Beemer type
Short rib-polydactyly syndrome, Beemer type 		6 0 2 0.13 0 0
CUI: C4024996
Disease: Aplasia/Hypoplasia of the lungs
Aplasia/Hypoplasia of the lungs 		29 0 4 0.11 0 0
CUI: C4551571
Disease: Cranioectodermal dysplasia
Cranioectodermal dysplasia 		11 0 2 1.0E-01 0 0
CUI: C2112129
Disease: Postaxial foot polydactyly
Postaxial foot polydactyly 		45 0 5 9.8E-02 0 0
CUI: C4021814
Disease: Accessory oral frenulum
Accessory oral frenulum 		12 0 2 9.5E-02 0 0
CUI: C0426817
Disease: Short ribs
Short ribs 		60 27 6 9.2E-02 7 0.23
CUI: C0478093
Disease: Other congenital malformation syndromes with other skeletal changes
Other congenital malformation syndromes with other skeletal changes 		1 0 1 9.1E-02 0 0
CUI: C1855000
Disease: Agenesis of central incisor
Agenesis of central incisor 		1 0 1 9.1E-02 0 0
CUI: C1859568
Disease: BARDET-BIEDL SYNDROME 10
BARDET-BIEDL SYNDROME 10 		1 94 1 9.1E-02 1 9.6E-03
CUI: C2931889
Disease: Oral-facial-digital syndrome, type 2
Oral-facial-digital syndrome, type 2 		1 0 1 9.1E-02 0 0
CUI: C3806510
Disease: Horizontal ribs
Horizontal ribs 		13 0 2 9.1E-02 0 0
CUI: C3806516
Disease: Disproportionate shortening of the tibia
Disproportionate shortening of the tibia 		1 0 1 9.1E-02 0 0
CUI: C4017372
Disease: SHORT-RIB THORACIC DYSPLASIA WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA WITHOUT POLYDACTYLY 		1 0 1 9.1E-02 0 0
CUI: C4017660
Disease: BARDET-BIEDL SYNDROME 6/10, DIGENIC
BARDET-BIEDL SYNDROME 6/10, DIGENIC 		1 0 1 9.1E-02 0 0
CUI: C4021336
Disease: Complete duplication of hallux phalanx
Complete duplication of hallux phalanx 		1 0 1 9.1E-02 0 0
CUI: C4021618
Disease: Polysyndactyly of hallux
Polysyndactyly of hallux 		1 0 1 9.1E-02 0 0