Source: CLINVAR ×
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: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia 		7 16 6 0.46 14 0.48
CUI: C1854912
Disease: Short long bone
Short long bone 		8 19 6 0.43 15 0.48
CUI: C4024597
Disease: Aplasia/Hypoplasia involving the pelvis
Aplasia/Hypoplasia involving the pelvis 		5 13 5 0.42 13 0.48
CUI: C4551856
Disease: Asphyxiating Thoracic Dystrophy 1
Asphyxiating Thoracic Dystrophy 1 		8 11 4 0.25 7 0.23
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		15 18 5 0.23 3 7.1E-02
CUI: C1832988
Disease: Metaphyseal spurs
Metaphyseal spurs 		2 2 2 0.17 2 7.4E-02
CUI: C0152427
Disease: Polydactyly
Polydactyly 		24 37 5 0.16 9 0.16
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		3 117 2 0.15 2 1.4E-02
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		18 115 4 0.15 13 0.10
CUI: C0457013
Disease: Weyers acrofacial dysostosis
Weyers acrofacial dysostosis 		3 20 2 0.15 1 2.2E-02
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome 		11 31 3 0.15 2 3.6E-02
CUI: C1849937
Disease: Disproportionate short-limb short stature
Disproportionate short-limb short stature 		4 5 2 0.14 1 3.2E-02
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		13 0 3 0.14 0 0
CUI: C0220726
Disease: Diastrophic dysplasia
Diastrophic dysplasia 		13 0 3 0.14 0 0
CUI: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax 		5 7 2 0.13 3 9.7E-02
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		6 6 2 0.12 2 6.5E-02
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		16 58 3 0.12 2 2.4E-02
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		7 7 2 0.12 1 3.0E-02
CUI: C1859461
Disease: Femoral bowing
Femoral bowing 		9 13 2 0.11 6 0.18
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		11 11 2 9.5E-02 2 5.6E-02
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		13 33 2 8.7E-02 1 1.7E-02
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1 9 1 8.3E-02 1 2.9E-02
CUI: C0007097
Disease: Carcinoma
Carcinoma 		1 15 1 8.3E-02 1 2.4E-02
CUI: C0008732
Disease: Chylous Ascites
Chylous Ascites 		1 1 1 8.3E-02 1 3.7E-02
CUI: C0016242
Disease: Vitreous floaters
Vitreous floaters 		1 0 1 8.3E-02 0 0