rs1443187318, AEBP1

N. diseases: 14
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Connective Tissue Diseases
CUI: C0009782
Disease: Connective Tissue Diseases
0.010 GeneticVariation BEFREE We identified the homozygous nonsense variant c.917dup, p.Tyr306* in AEBP1 using clinical exome sequencing in a female individual with previously unsolved CTD. 30548383 2019
Structural foot deformity
CUI: C4023965
Disease: Structural foot deformity
0.700 CausalMutation CLINVAR
Atypical scarring of skin
CUI: C4021786
Disease: Atypical scarring of skin
0.700 CausalMutation CLINVAR
Prematurely aged appearance
CUI: C1857656
Disease: Prematurely aged appearance
0.700 CausalMutation CLINVAR
Kyphoscoliosis deformity of spine
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
0.700 CausalMutation CLINVAR
Prominent superficial veins
CUI: C1837785
Disease: Prominent superficial veins
0.700 CausalMutation CLINVAR
Range of joint movement increased
CUI: C1844820
Disease: Range of joint movement increased
0.700 CausalMutation CLINVAR
Poor wound healing
CUI: C1851789
Disease: Poor wound healing
0.700 CausalMutation CLINVAR
Redundant skin
CUI: C0581342
Disease: Redundant skin
0.700 CausalMutation CLINVAR
Increased tendency to bruise
CUI: C0423798
Disease: Increased tendency to bruise
0.700 CausalMutation CLINVAR
Umbilical hernia
CUI: C0019322
Disease: Umbilical hernia
0.700 CausalMutation CLINVAR
EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2
0.700 CausalMutation CLINVAR
Hyperextensible skin
CUI: C0241074
Disease: Hyperextensible skin
0.700 CausalMutation CLINVAR
Mitral Valve Prolapse Syndrome
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
0.700 CausalMutation CLINVAR