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: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		1 0 1 0.33 0 0
CUI: C0012736
Disease: Dissecting aortic aneurysm
Dissecting aortic aneurysm 		1 0 1 0.33 0 0
CUI: C0019270
Disease: Hernia
Hernia 		1 1 1 0.33 1 7.1E-02
CUI: C0033300
Disease: Progeria
Progeria 		1 0 1 0.33 0 0
CUI: C0033788
Disease: Pseudo-Hurler Polydystrophy
Pseudo-Hurler Polydystrophy 		1 86 1 0.33 11 0.12
CUI: C0036310
Disease: Scheuermann's Disease
Scheuermann's Disease 		1 0 1 0.33 0 0
CUI: C0079035
Disease: Bradyarrhythmia (disorder)
Bradyarrhythmia (disorder) 		1 0 1 0.33 0 0
CUI: C0241165
Disease: Thick skin
Thick skin 		1 1 1 0.33 1 7.1E-02
CUI: C0264906
Disease: Second degree atrioventricular block
Second degree atrioventricular block 		1 0 1 0.33 0 0
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		1 0 1 0.33 0 0
CUI: C0265290
Disease: Metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia 		1 0 1 0.33 0 0
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		1 0 1 0.33 0 0
CUI: C0268435
Disease: Renal Tubular Acidosis, Type II
Renal Tubular Acidosis, Type II 		1 0 1 0.33 0 0
CUI: C0392777
Disease: Poikiloderma
Poikiloderma 		1 1 1 0.33 1 7.1E-02
CUI: C0409495
Disease: Protrusio acetabuli
Protrusio acetabuli 		1 0 1 0.33 0 0
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss 		1 0 1 0.33 0 0
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		1 0 1 0.33 0 0
CUI: C0426422
Disease: Narrow nose
Narrow nose 		1 0 1 0.33 0 0
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		1 0 1 0.33 0 0
CUI: C0546297
Disease: Hallux Varus
Hallux Varus 		1 0 1 0.33 0 0
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome 		1 0 1 0.33 0 0
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		1 0 1 0.33 0 0
CUI: C1834653
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder) 		1 0 1 0.33 0 0
CUI: C1836653
Disease: Ascending aortic dissection
Ascending aortic dissection 		1 0 1 0.33 0 0
CUI: C1857829
Disease: Heart-hand syndrome, Slovenian type
Heart-hand syndrome, Slovenian type 		1 0 1 0.33 0 0