AEBP1, AE binding protein 1, 165

N. diseases: 69; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		0.100 CausalMutation phenotype CLINVAR
CUI: C0521525
Disease: Short neck
Short neck 		0.100 Biomarker phenotype HPO
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		0.100 CausalMutation disease CLINVAR
CUI: C0581342
Disease: Redundant skin
Redundant skin 		0.100 CausalMutation phenotype CLINVAR
CUI: C0581342
Disease: Redundant skin
Redundant skin 		0.100 Biomarker phenotype HPO
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		0.100 Biomarker disease HPO
CUI: C1837785
Disease: Prominent superficial veins
Prominent superficial veins 		0.100 CausalMutation phenotype CLINVAR
CUI: C1838186
Disease: Squared iliac bones
Squared iliac bones 		0.100 Biomarker phenotype HPO
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.100 CausalMutation phenotype CLINVAR
CUI: C1851789
Disease: Poor wound healing
Poor wound healing 		0.100 CausalMutation phenotype CLINVAR
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		0.100 Biomarker phenotype HPO
CUI: C1857656
Disease: Prematurely aged appearance
Prematurely aged appearance 		0.100 CausalMutation phenotype CLINVAR
CUI: C1857790
Disease: Thoracic scoliosis
Thoracic scoliosis 		0.100 Biomarker phenotype HPO
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis 		0.100 Biomarker phenotype HPO
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		0.100 CausalMutation phenotype CLINVAR
CUI: C4023965
Disease: Structural foot deformity
Structural foot deformity 		0.100 CausalMutation phenotype CLINVAR
CUI: C4281771
Disease: Thin eyebrow
Thin eyebrow 		0.100 Biomarker phenotype HPO
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome 		0.030 Biomarker disease BEFREE This report further expands the clinical, molecular and ultrastructural spectrum associated with AEBP1 defects and highlights the complex and variable phenotype associated with this new EDS variant. 30668708 2019
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome 		0.030 GeneticVariation disease BEFREE Biallelic variants in the AEBP1 gene cause a novel autosomal-recessive connective tissue disorder (CTD) reminiscent of Ehlers-Danlos Syndrome (EDS). 30548383 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.030 AlteredExpression phenotype BEFREE IHC revealed that the expression of AEBP1 in CRC tissues was significantly higher than that in adjacent healthy tissues, and that it is associated with Tumor-Node-Metastasis stage, recurrence and metastasis. 30655737 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.030 Biomarker phenotype BEFREE AEBP1, a prognostic indicator, promotes colon adenocarcinoma cell growth and metastasis through the NF-κB pathway. 31219650 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 AlteredExpression group BEFREE IHC revealed that the expression of AEBP1 in CRC tissues was significantly higher than that in adjacent healthy tissues, and that it is associated with Tumor-Node-Metastasis stage, recurrence and metastasis. 30655737 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 AlteredExpression group BEFREE We observed that AEBP1 was overexpressed in COAD tissues and cells and that the expression of AEBP1 was correlated with tumor size, the level of histologic differentiation, lymph node metastasis, and cancer stage in COAD patients. 31219650 2019
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		0.030 Biomarker disease BEFREE AEBP1 knockdown resulted in decreased expression of nine genes previously identified to be part of a predicted AEBP1-associated NASH co-regulatory network and confirmed to be upregulated in fibrotic tissue. 31299062 2019
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome 		0.030 GeneticVariation disease BEFREE These studies support the conclusion that bi-allelic pathogenic variants in AEBP1 are the cause of this autosomal-recessive EDS subtype. 29606302 2018