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: C1849409
Disease: Knobloch syndrome
Knobloch syndrome 		0.700 Biomarker disease BEFREE The role of COL18A1 in the etiology of Knobloch syndrome (KS) that is consistently accompanied by optic anomalies, available functional data on the encoded protein and the recognized role of collagens and the extracellular matrix in glaucoma pathogenesis supported the proposed role of the COL18A1 mutation in the pedigree. 30007336 2018
CUI: C1849409
Disease: Knobloch syndrome
Knobloch syndrome 		0.700 Biomarker disease BEFREE Knobloch syndrome [OMIM: (KNO1) #267750] is a rare and clinically heterogeneous autosomal recessive disorder caused by mutations in COL18A1. 28602933 2017
CUI: C1849409
Disease: Knobloch syndrome
Knobloch syndrome 		0.700 GeneticVariation disease BEFREE We suggest that patients who are clinically diagnosed with Knobloch syndrome and/or found to have COL18A1 mutations via genetic screening should be investigated for potential structural brain abnormalities even in the absence of an encephalocele. 25456301 2014
CUI: C1849409
Disease: Knobloch syndrome
Knobloch syndrome 		0.700 GeneticVariation disease BEFREE Mutations in COL18A1 are known to cause Knobloch syndrome (KS). 25392994 2014
CUI: C1849409
Disease: Knobloch syndrome
Knobloch syndrome 		0.700 GermlineCausalMutation disease ORPHANET Identification of ADAMTS18 as a gene mutated in Knobloch syndrome. 21862674 2011
CUI: C1849409
Disease: Knobloch syndrome
Knobloch syndrome 		0.700 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: C1849409
Disease: Knobloch syndrome
Knobloch syndrome 		0.700 Biomarker disease BEFREE We report a case of KNO confirmed by direct sequence analysis of the COL18A1 gene with typical ocular features, and previously unreported systemic features: occipital hair tuft with transient CSF leak and bilateral renal abnormalities. 18484314 2008
CUI: C1849409
Disease: Knobloch syndrome
Knobloch syndrome 		0.700 Biomarker disease BEFREE Insights into the physiological function of collagen XVIII/endostatin have recently been obtained through the identification of inactivating mutations in the human collagen XVIII/endostatin gene (COL18A1) in patients with Knobloch syndrome, characterized by age-dependent vitreoretinal degeneration and occipital encephalocele. 15857886 2005
CUI: C1849409
Disease: Knobloch syndrome
Knobloch syndrome 		0.700 GermlineCausalMutation disease ORPHANET How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome? 15714516 2005
CUI: C1849409
Disease: Knobloch syndrome
Knobloch syndrome 		0.700 Biomarker disease BEFREE Analysis of two unrelated KNO families from Hungary and New Zealand allowed us to confirm the involvement of COL18A1 in the pathogenesis of KNO and to demonstrate the existence of genetic heterogeneity. 14695535 2004
CUI: C1849409
Disease: Knobloch syndrome
Knobloch syndrome 		0.700 GeneticVariation disease BEFREE Our typing results for the reported COL18A1 mutations confirm the genetic heterogeneity of KS. 15465551 2004
CUI: C1849409
Disease: Knobloch syndrome
Knobloch syndrome 		0.700 GeneticVariation disease BEFREE We report here the results of the screening of both the entire coding region and the exon-intron boundaries of the COL18A1 gene (which includes 43 exons), in eight unrelated patients with KS. 12415512 2002
CUI: C1849409
Disease: Knobloch syndrome
Knobloch syndrome 		0.700 GeneticVariation disease BEFREE These findings provide evidence that KS is caused by mutations in COL18A1 which, therefore, has a major role in determining the retinal structure as well as in the closure of the neural tube. 10942434 2000
CUI: C1849409
Disease: Knobloch syndrome
Knobloch syndrome 		0.700 Biomarker disease CTD_human
CUI: C1849409
Disease: Knobloch syndrome
Knobloch syndrome 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4551775
Disease: Knobloch Syndrome, Type I
Knobloch Syndrome, Type I 		0.600 Biomarker disease GENOMICS_ENGLAND Polymicrogyria and Intractable Epilepsy in Siblings With Knobloch Syndrome and Homozygous Mutation of COL18A1. 28950998 2017
CUI: C4551775
Disease: Knobloch Syndrome, Type I
Knobloch Syndrome, Type I 		0.600 CausalMutation disease CLINVAR Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations. 25456301 2014
CUI: C4551775
Disease: Knobloch Syndrome, Type I
Knobloch Syndrome, Type I 		0.600 Biomarker disease GENOMICS_ENGLAND The distinct ophthalmic phenotype of Knobloch syndrome in children. 22399687 2012
CUI: C4551775
Disease: Knobloch Syndrome, Type I
Knobloch Syndrome, Type I 		0.600 Biomarker disease GENOMICS_ENGLAND Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome). 10942434 2000
CUI: C4551775
Disease: Knobloch Syndrome, Type I
Knobloch Syndrome, Type I 		0.600 GeneticVariation disease CLINVAR
CUI: C4551775
Disease: Knobloch Syndrome, Type I
Knobloch Syndrome, Type I 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C4551775
Disease: Knobloch Syndrome, Type I
Knobloch Syndrome, Type I 		0.600 Biomarker disease CTD_human
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.420 Biomarker disease BEFREE Genetic Association Study Between the COL11A1 and COL18A1 Genes and High Myopia in a Han Chinese Population. 29781737 2018
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.420 Biomarker disease BEFREE Common polymorphisms in these four candidate genes (COL11A1, COL18A1, FBN1 and PLOD1) were unlikely to play important roles in the genetic susceptibility to high myopia. 21527992 2011
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.420 GeneticVariation disease CLINVAR