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: C0085610
Disease: Sinus bradycardia
Sinus bradycardia 		2 0 1 0.50 0 0
CUI: C0154856
Disease: Retinal lattice degeneration
Retinal lattice degeneration 		2 0 1 0.50 0 0
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		2 0 1 0.50 0 0
CUI: C4023918
Disease: Short hard palate
Short hard palate 		2 0 1 0.50 0 0
CUI: C4520892
Disease: Otospondylomegaepiphyseal dysplasia
Otospondylomegaepiphyseal dysplasia 		2 0 1 0.50 0 0
CUI: C0023234
Disease: Legg-Calve-Perthes Disease
Legg-Calve-Perthes Disease 		3 7 1 0.33 3 0.33
CUI: C0042454
Disease: Velopharyngeal Insufficiency
Velopharyngeal Insufficiency 		3 0 1 0.33 0 0
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		3 18 1 0.33 3 0.15
CUI: C1849667
Disease: Wide nasal base
Wide nasal base 		3 0 1 0.33 0 0
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		3 0 1 0.33 0 0
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		3 24 1 0.33 3 0.12
CUI: C0426209
Disease: amniotic fluid meconium stained
amniotic fluid meconium stained 		4 0 1 0.25 0 0
CUI: C1849937
Disease: Disproportionate short-limb short stature
Disproportionate short-limb short stature 		4 0 1 0.25 0 0
CUI: C1856118
Disease: Prominent nasal tip
Prominent nasal tip 		4 0 1 0.25 0 0
CUI: C1867114
Disease: Craniofacial disproportion
Craniofacial disproportion 		4 0 1 0.25 0 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		5 0 1 0.20 0 0
CUI: C0024636
Disease: Malocclusion
Malocclusion 		6 0 1 0.17 0 0
CUI: C1837463
Disease: Narrow face
Narrow face 		6 0 1 0.17 0 0
CUI: C4023808
Disease: Hyperextensibility at elbow
Hyperextensibility at elbow 		7 0 1 0.14 0 0
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding 		9 0 1 0.11 0 0
CUI: C0747085
Disease: Recurrent otitis media
Recurrent otitis media 		9 0 1 0.11 0 0
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		10 0 1 1.0E-01 0 0
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		10 0 1 1.0E-01 0 0
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		10 0 1 1.0E-01 0 0
CUI: C3494422
Disease: Retrognathia
Retrognathia 		11 0 1 9.1E-02 0 0