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: C0040962
Disease: Tricuspid Valve Prolapse
Tricuspid Valve Prolapse 		2 4 2 1.00 2 0.50
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		1 0 1 0.50 0 0
CUI: C0012736
Disease: Dissecting aortic aneurysm
Dissecting aortic aneurysm 		1 0 1 0.50 0 0
CUI: C0241165
Disease: Thick skin
Thick skin 		1 0 1 0.50 0 0
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		1 0 1 0.50 0 0
CUI: C0265290
Disease: Metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia 		1 0 1 0.50 0 0
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		1 0 1 0.50 0 0
CUI: C0268435
Disease: Renal Tubular Acidosis, Type II
Renal Tubular Acidosis, Type II 		1 0 1 0.50 0 0
CUI: C0409495
Disease: Protrusio acetabuli
Protrusio acetabuli 		1 0 1 0.50 0 0
CUI: C0426422
Disease: Narrow nose
Narrow nose 		1 0 1 0.50 0 0
CUI: C0546297
Disease: Hallux Varus
Hallux Varus 		1 0 1 0.50 0 0
CUI: C1836653
Disease: Ascending aortic dissection
Ascending aortic dissection 		1 0 1 0.50 0 0
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		1 0 1 0.50 0 0
CUI: C1861456
Disease: Stiff Skin Syndrome
Stiff Skin Syndrome 		1 0 1 0.50 0 0
CUI: C1869115
Disease: Weill-Marchesani Syndrome, Autosomal Dominant
Weill-Marchesani Syndrome, Autosomal Dominant 		1 0 1 0.50 0 0
CUI: C2316787
Disease: Chronic kidney disease stage 3
Chronic kidney disease stage 3 		1 0 1 0.50 0 0
CUI: C3280054
Disease: GELEOPHYSIC DYSPLASIA 2
GELEOPHYSIC DYSPLASIA 2 		1 0 1 0.50 0 0
CUI: C3541518
Disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT 		1 0 1 0.50 0 0
CUI: C4016052
Disease: MARFAN SYNDROME, SEVERE CLASSIC
MARFAN SYNDROME, SEVERE CLASSIC 		1 0 1 0.50 0 0
CUI: C4016053
Disease: MARFAN SYNDROME, MILD VARIABLE
MARFAN SYNDROME, MILD VARIABLE 		1 0 1 0.50 0 0
CUI: C4016054
Disease: Neonatal Marfan syndrome
Neonatal Marfan syndrome 		1 0 1 0.50 0 0
CUI: C4016055
Disease: MARFAN SYNDROME, ATYPICAL
MARFAN SYNDROME, ATYPICAL 		1 0 1 0.50 0 0
CUI: C4016056
Disease: MARFAN SYNDROME, MILD
MARFAN SYNDROME, MILD 		1 0 1 0.50 0 0
CUI: C4016059
Disease: MARFAN SYNDROME, AUTOSOMAL RECESSIVE
MARFAN SYNDROME, AUTOSOMAL RECESSIVE 		1 0 1 0.50 0 0
CUI: C4023359
Disease: Abnormal maternal serum screening
Abnormal maternal serum screening 		1 0 1 0.50 0 0