COL18A1, collagen type XVIII alpha 1 chain, 80781

N. diseases: 323; N. variants: 41
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.420 Biomarker disease HPO
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.420 Biomarker disease GENOMICS_ENGLAND
CUI: C0344290
Disease: Vitreoretinal degeneration
Vitreoretinal degeneration 		0.410 GeneticVariation disease BEFREE Knobloch syndrome (KNO) is caused by mutations in the collagen XVIII gene (COL18A1) and patients develop encephalocele and vitreoretinal degeneration. 20799329 2010
CUI: C0344290
Disease: Vitreoretinal degeneration
Vitreoretinal degeneration 		0.410 Biomarker disease GENOMICS_ENGLAND
CUI: C0344290
Disease: Vitreoretinal degeneration
Vitreoretinal degeneration 		0.410 Biomarker disease HPO
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		0.400 Biomarker disease HPO
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C0086543
Disease: Cataract
Cataract 		0.400 Biomarker disease HPO
CUI: C0086543
Disease: Cataract
Cataract 		0.400 GeneticVariation disease CLINVAR
CUI: C0086543
Disease: Cataract
Cataract 		0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma 		0.310 Biomarker disease BEFREE This case shows us that operation on late stage cardiac angiosarcomas can alleviate a patient's symptoms; postoperative paclitaxel monotherapy was insufficient and ifosfamide and epirubicin plus recombinant human endostatin has a limited effect on late stage cardiac angiosarcoma. 31027090 2019
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma 		0.310 Biomarker disease CTD_human Carcinogenic susceptibility of rasH2 mice to troglitazone. 17569031 2007
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.300 Biomarker disease BEFREE Serum levels of major pro-angiogenic [Vascular endothelial growth factor (VEGF), Basic fibroblast growth factor (b-FGF)] and anti-angiogenic [Thrombospondin-1 (TSP-1), Endostatin] factors were identified by enzyme-linked immunosorbent assay and correlated with liver diseases progression and outcomes of HCC patients undergoing transarterial chemo-embolization. 31235729 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.300 Biomarker disease BEFREE It may be concluded that Endostar inhibited immunity-associated angiogenesis behaviors of vascular endothelial cells in response to HCC. 29467868 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.300 Biomarker disease BEFREE Antitumor activities of Liver-targeting peptide modified Recombinant human Endostatin in BALB/c-nu mice with Hepatocellular carcinoma. 29075040 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.300 Biomarker disease BEFREE Although sorafenib was approved as antiangiogenic agent in case of hepatocellular carcinoma (HCC), the pathways mediating its antitumorigenic effects were not fully examined in vivo. 27085325 2017
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		0.300 Biomarker group BEFREE Results showed that the mutant rES-CSP reduce the stability and loss of function, and the wild-type rES-CSP could both bind to the normal liver cells Chang's and the hepatoma cells HepG2 but significantly higher than non-targeted rEndostatin. rESCSP could inhibit the proliferation of hepatoma cells in a dose-dependent manner, and increase the proportion of G1 phase, reduce the proportion of S phase, promote the apoptosis on hepatoma cells. 25731590 2015
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.300 Biomarker disease BEFREE However, the only clinically approved systemic antiangiogenic agent for advanced HCC is sorafenib, which exerts considerable toxicity. 26278330 2015
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.300 GeneticVariation disease BEFREE In vivo study of the effect of combining endostatin gene therapy with 32P-colloid on hepatocarcinoma and its functioning mechanism. 26416054 2015
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.300 Biomarker disease BEFREE Results showed that the mutant rES-CSP reduce the stability and loss of function, and the wild-type rES-CSP could both bind to the normal liver cells Chang's and the hepatoma cells HepG2 but significantly higher than non-targeted rEndostatin. rESCSP could inhibit the proliferation of hepatoma cells in a dose-dependent manner, and increase the proportion of G1 phase, reduce the proportion of S phase, promote the apoptosis on hepatoma cells. 25731590 2015
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.300 GeneticVariation disease BEFREE These findings indicate that COL18A1 rs7499 may contribute to the risk of HCC in Han Chinese. 22461898 2012
CUI: C0006663
Disease: Calcinosis
Calcinosis 		0.300 Biomarker phenotype CTD_human Raloxifene attenuates Gas6 and apoptosis in experimental aortic valve disease in renal failure. 21335463 2011
CUI: C0018824
Disease: Heart valve disease
Heart valve disease 		0.300 Biomarker group CTD_human Raloxifene attenuates Gas6 and apoptosis in experimental aortic valve disease in renal failure. 21335463 2011
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		0.300 Biomarker group BEFREE Endostar, a modified recombinant human endostatin, exhibits synergistic effects with dexamethasone on angiogenesis and hepatoma growth. 21216091 2011