YY1AP1, YY1 associated protein 1, 55249

N. diseases: 35; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1865267
Disease: Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly
Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly 		0.740 GeneticVariation disease BEFREE Grange syndrome due to homozygous YY1AP1 missense rare variants. 31633303 2019
CUI: C1865267
Disease: Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly
Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly 		0.740 GeneticVariation disease BEFREE Biallelic YY1AP1 mutations are known to cause Grange syndrome. 31270375 2019
CUI: C1865267
Disease: Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly
Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly 		0.740 GeneticVariation disease BEFREE Loss-of-function variants in YY1AP1 have only recently been associated with Grange syndrome. 30556293 2019
CUI: C1865267
Disease: Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly
Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly 		0.740 GermlineCausalMutation disease ORPHANET Exome-sequencing analysis of DNA from three affected siblings with Grange syndrome identified compound heterozygous nonsense variants in YY1AP1, and homozygous nonsense or frameshift YY1AP1 variants were subsequently identified in additional unrelated probands with Grange syndrome. 27939641 2017
CUI: C1865267
Disease: Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly
Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly 		0.740 GeneticVariation disease BEFREE Exome-sequencing analysis of DNA from three affected siblings with Grange syndrome identified compound heterozygous nonsense variants in YY1AP1, and homozygous nonsense or frameshift YY1AP1 variants were subsequently identified in additional unrelated probands with Grange syndrome. 27939641 2017
CUI: C1865267
Disease: Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly
Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly 		0.740 Biomarker disease GENOMICS_ENGLAND
CUI: C1865267
Disease: Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly
Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly 		0.740 CausalMutation disease CLINVAR
CUI: C1865267
Disease: Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly
Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly 		0.740 Biomarker disease CTD_human
CUI: C0020545
Disease: Hypertension, Renovascular
Hypertension, Renovascular 		0.110 GeneticVariation disease BEFREE Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1. 31270375 2019
CUI: C0020545
Disease: Hypertension, Renovascular
Hypertension, Renovascular 		0.110 Biomarker disease HPO
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		0.100 Biomarker disease HPO
CUI: C0006009
Disease: Borderline intellectual disability
Borderline intellectual disability 		0.100 Biomarker disease HPO
CUI: C0007282
Disease: Carotid Stenosis
Carotid Stenosis 		0.100 Biomarker disease HPO
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.100 Biomarker disease HPO
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 Biomarker group HPO
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.100 Biomarker group HPO
CUI: C0035067
Disease: Renal Artery Stenosis
Renal Artery Stenosis 		0.100 Biomarker disease HPO
CUI: C0038449
Disease: Stricture of artery
Stricture of artery 		0.100 Biomarker phenotype HPO
CUI: C0039075
Disease: Syndactyly
Syndactyly 		0.100 Biomarker disease HPO
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.100 Biomarker disease HPO
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers 		0.100 Biomarker disease HPO
CUI: C1262477
Disease: Weight decreased
Weight decreased 		0.100 Biomarker phenotype HPO
CUI: C1390474
Disease: Increased susceptibility to fractures
Increased susceptibility to fractures 		0.100 Biomarker phenotype HPO
CUI: C1843108
Disease: Short palm
Short palm 		0.100 Biomarker phenotype HPO