COL27A1, collagen type XXVII alpha 1 chain, 85301

N. diseases: 17; N. variants: 20
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs140950220
rs140950220
Entrez Id: 85301
Gene Symbol: COL27A1
COL27A1
CUI: C3554594
Disease:
STEEL SYNDROME 		0.810 GeneticVariation BEFREE We identified a homozygous missense variant p.(Gly697Arg) in COL27A1, in a family with Steel syndrome and no consanguinity. 24986830 2015
dbSNP: rs7868992
rs7868992
Entrez Id: 85301
Gene Symbol: COL27A1
COL27A1
CUI: C0040517
Disease:
Gilles de la Tourette syndrome 		0.810 GeneticVariation BEFREE PCR-directed sequencing was used to evaluate the genetic contributions of three SNPs in COL27A1(rs4979356, rs4979357 and rs7868992) using haplotype relative risk (HRR) and transmission disequilibrium tests (TDT) with a total of 260 Tourette syndrome trios. 26235311 2015
dbSNP: rs7868992
rs7868992
Entrez Id: 85301
Gene Symbol: COL27A1
COL27A1
CUI: C0040517
Disease:
Gilles de la Tourette syndrome 		G 0.810 GeneticVariation GWASCAT Genome-wide association study of Tourette's syndrome. 22889924 2013
dbSNP: rs7868992
rs7868992
Entrez Id: 85301
Gene Symbol: COL27A1
COL27A1
CUI: C0040517
Disease:
Gilles de la Tourette syndrome 		G 0.810 GeneticVariation GWASDB Genome-wide association study of Tourette's syndrome. 22889924 2013
dbSNP: rs140950220
rs140950220
Entrez Id: 85301
Gene Symbol: COL27A1
COL27A1
CUI: C3554594
Disease:
STEEL SYNDROME 		C 0.810 CausalMutation CLINVAR
dbSNP: rs140950220
rs140950220
Entrez Id: 85301
Gene Symbol: COL27A1
COL27A1
CUI: C3554594
Disease:
STEEL SYNDROME 		0.810 GeneticVariation UNIPROT
dbSNP: rs10817582
rs10817582
Entrez Id: 85301
Gene Symbol: COL27A1
COL27A1
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs117181309
rs117181309
Entrez Id: 85301;619556
Gene Symbol: COL27A1;MIR455
COL27A1;MIR455
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs72760655
rs72760655
Entrez Id: 85301;105376225
Gene Symbol: COL27A1;LOC105376225
COL27A1;LOC105376225
CUI: C0005612
Disease:
Birth Weight 		C 0.700 GeneticVariation GWASCAT Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. 31043758 2019
dbSNP: rs1554787366
rs1554787366
Entrez Id: 85301
Gene Symbol: COL27A1
COL27A1
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1. 28276056 2017
dbSNP: rs1554816354
rs1554816354
Entrez Id: 85301
Gene Symbol: COL27A1
COL27A1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1. 28276056 2017
dbSNP: rs1554829390
rs1554829390
Entrez Id: 85301;105376224
Gene Symbol: COL27A1;LOC105376224
COL27A1;LOC105376224
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1. 28276056 2017
dbSNP: rs1554829390
rs1554829390
Entrez Id: 85301;105376224
Gene Symbol: COL27A1;LOC105376224
COL27A1;LOC105376224
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1. 28276056 2017
dbSNP: rs1554787366
rs1554787366
Entrez Id: 85301
Gene Symbol: COL27A1
COL27A1
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population. 24986830 2015
dbSNP: rs1554816354
rs1554816354
Entrez Id: 85301
Gene Symbol: COL27A1
COL27A1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population. 24986830 2015
dbSNP: rs1554829390
rs1554829390
Entrez Id: 85301;105376224
Gene Symbol: COL27A1;LOC105376224
COL27A1;LOC105376224
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population. 24986830 2015
dbSNP: rs1554829390
rs1554829390
Entrez Id: 85301;105376224
Gene Symbol: COL27A1;LOC105376224
COL27A1;LOC105376224
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population. 24986830 2015
dbSNP: rs1554787366
rs1554787366
Entrez Id: 85301
Gene Symbol: COL27A1
COL27A1
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Collagen XXVII organises the pericellular matrix in the growth plate. 22206015 2011
dbSNP: rs1554816354
rs1554816354
Entrez Id: 85301
Gene Symbol: COL27A1
COL27A1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Collagen XXVII organises the pericellular matrix in the growth plate. 22206015 2011
dbSNP: rs1554829390
rs1554829390
Entrez Id: 85301;105376224
Gene Symbol: COL27A1;LOC105376224
COL27A1;LOC105376224
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Collagen XXVII organises the pericellular matrix in the growth plate. 22206015 2011
dbSNP: rs1554829390
rs1554829390
Entrez Id: 85301;105376224
Gene Symbol: COL27A1;LOC105376224
COL27A1;LOC105376224
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Collagen XXVII organises the pericellular matrix in the growth plate. 22206015 2011
dbSNP: rs1554787366
rs1554787366
Entrez Id: 85301
Gene Symbol: COL27A1
COL27A1
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR The transcription factor Lc-Maf participates in Col27a1 regulation during chondrocyte maturation. 19414009 2009
dbSNP: rs1554787366
rs1554787366
Entrez Id: 85301
Gene Symbol: COL27A1
COL27A1
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations. 19204719 2009
dbSNP: rs1554787366
rs1554787366
Entrez Id: 85301
Gene Symbol: COL27A1
COL27A1
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Critical early roles for col27a1a and col27a1b in zebrafish notochord morphogenesis, vertebral mineralization and post-embryonic axial growth. 20041163 2009
dbSNP: rs1554816354
rs1554816354
Entrez Id: 85301
Gene Symbol: COL27A1
COL27A1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR The transcription factor Lc-Maf participates in Col27a1 regulation during chondrocyte maturation. 19414009 2009