COL5A2, collagen type V alpha 2 chain, 1290

N. diseases: 139; N. variants: 20
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4025252
Disease: Abnormal nasal morphology
Abnormal nasal morphology 		0.100 Biomarker disease HPO
CUI: C4021816
Disease: Abnormality of the gingiva
Abnormality of the gingiva 		0.100 Biomarker disease HPO
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		0.100 Biomarker phenotype HPO
CUI: C0000822
Disease: Abortion, Tubal
Abortion, Tubal 		0.300 Biomarker phenotype CTD_human Gene expression in cultured endometrium from women with different outcomes following IVF. 18539642 2008
CUI: C0221347
Disease: Acrocyanosis
Acrocyanosis 		0.100 Biomarker phenotype HPO
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		0.010 Biomarker disease BEFREE A total of 41 DEGs, such as SOCS3, VAPA, and COL5A2, are speculated to have roles in the pathogenesis of AMI; 2 transcription factors FOXO3 and MYBL2, and 2 miRNAs hsa-miR-21-5p and hsa-miR-30c-5p may be involved in the regulation of the expression of these DEGs. 29049183 2017
CUI: C0002940
Disease: Aneurysm
Aneurysm 		0.100 GeneticVariation disease CLINVAR
CUI: C0856747
Disease: Aneurysm of ascending aorta
Aneurysm of ascending aorta 		0.100 Biomarker phenotype HPO
CUI: C0002949
Disease: Aneurysm, Dissecting
Aneurysm, Dissecting 		0.100 Biomarker disease HPO
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		0.010 Biomarker disease BEFREE More important, Col5a2 haploinsufficiency markedly increased the incidence and severity of abdominal aortic aneurysms, and caused aortic arch ruptures and dissections, indicating that α2(V) chain deficits may play roles in these pathologies in humans. 28734943 2017
CUI: C4023909
Disease: Aplasia/Hypoplasia of the abdominal wall musculature
Aplasia/Hypoplasia of the abdominal wall musculature 		0.100 Biomarker phenotype HPO
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0.100 Biomarker disease HPO
CUI: C0004096
Disease: Asthma
Asthma 		0.100 Biomarker disease HPO
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 Biomarker group HPO
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		0.100 Biomarker phenotype HPO
CUI: C1846545
Disease: Autoimmune Lymphoproliferative Syndrome Type 2B
Autoimmune Lymphoproliferative Syndrome Type 2B 		0.300 Biomarker disease GENOMICS_ENGLAND Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I. 9425231 1998
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.020 Biomarker disease BEFREE "Our results demonstrated that COL5A2 was correlated with poor clinical outcomes and survivals of patients with bladder cancer, suggesting that it could be regarded as a biomarker of bladder cancer. 29517678 2018
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.020 Biomarker disease BEFREE Two previous studies identified collagen type V alpha 2 (COL5A2) as a potential biomarker in BC, both are simple reanalysis of a single transcriptomic dataset without subgroup analysis for muscle-invasive BC (MIBC). 30697528 2018
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency 		0.300 Biomarker phenotype GENOMICS_ENGLAND Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I. 9425231 1998
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.300 Biomarker group GENOMICS_ENGLAND Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I. 9425231 1998
CUI: C0542514
Disease: Blue sclera
Blue sclera 		0.100 Biomarker phenotype HPO
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0006625
Disease: Cachexia
Cachexia 		0.100 Biomarker phenotype HPO
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 AlteredExpression phenotype BEFREE Colorectal carcinogenesis is associated with stromal expression of COL11A1 and COL5A2. 11375892 2001
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 Biomarker phenotype BEFREE COL5A1 is an unfavorable factor for tumorigenesis, clinicopathological outcomes, and prognosis, whereas COL5A2 is only a favorable factor for prognosis in TSCC. 30972812 2019