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: C4693870
Disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2
EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 		0.400 GermlineCausalMutation disease ORPHANET Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome. 30759870 2019
CUI: C4693870
Disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2
EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 		0.400 GeneticVariation disease CLINVAR Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome. 29606302 2018
CUI: C4693870
Disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2
EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 		0.400 CausalMutation disease CLINVAR
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.110 GeneticVariation disease BEFREE Recently, bi-allelic loss-of-function mutations in the adipocyte enhancer-binding protein 1 (AEBP1) gene were reported in three families with an autosomal recessive EDS-like condition characterized by thin and hyperextensible skin, poor wound healing with prominent atrophic scarring, joint hypermobility and osteoporosis. 30668708 2019
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.110 Biomarker disease HPO
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome 		0.100 GeneticVariation disease GWASCAT A genome-wide association analysis identifies 16 novel susceptibility loci for carpal tunnel syndrome. 30833571 2019
CUI: C0006444
Disease: Bursitis
Bursitis 		0.100 Biomarker disease HPO
CUI: C0007642
Disease: Cellulitis
Cellulitis 		0.100 Biomarker phenotype HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0016202
Disease: Flatfoot
Flatfoot 		0.100 Biomarker phenotype HPO
CUI: C0018536
Disease: Hallux Valgus
Hallux Valgus 		0.100 Biomarker disease HPO
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		0.100 Biomarker phenotype HPO
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia 		0.100 CausalMutation phenotype CLINVAR
CUI: C0019326
Disease: Ventral Hernia
Ventral Hernia 		0.100 Biomarker phenotype HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		0.100 CausalMutation disease CLINVAR
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		0.100 Biomarker disease HPO
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.100 Biomarker disease HPO
CUI: C0152421
Disease: Macrotia
Macrotia 		0.100 Biomarker disease HPO
CUI: C0162154
Disease: Atrophic scar
Atrophic scar 		0.100 Biomarker phenotype HPO
CUI: C0221217
Disease: Neck webbing
Neck webbing 		0.100 Biomarker disease HPO
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 Biomarker disease HPO
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin 		0.100 Biomarker phenotype HPO
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin 		0.100 CausalMutation phenotype CLINVAR
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		0.100 Biomarker phenotype HPO