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 		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: rs1401322428
rs1401322428
Entrez Id: 85301
Gene Symbol: COL27A1
COL27A1
CUI: C3554594
Disease:
STEEL SYNDROME 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1554787559
rs1554787559
Entrez Id: 85301
Gene Symbol: COL27A1
COL27A1
CUI: C3554594
Disease:
STEEL SYNDROME 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1554821679
rs1554821679
Entrez Id: 85301
Gene Symbol: COL27A1
COL27A1
CUI: C3554594
Disease:
STEEL SYNDROME 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1554787366
rs1554787366
Entrez Id: 85301
Gene Symbol: COL27A1
COL27A1
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. 7990924 1994
dbSNP: rs1554816354
rs1554816354
Entrez Id: 85301
Gene Symbol: COL27A1
COL27A1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. 7990924 1994
dbSNP: rs1554829390
rs1554829390
Entrez Id: 85301;105376224
Gene Symbol: COL27A1;LOC105376224
COL27A1;LOC105376224
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. 7990924 1994
dbSNP: rs1554829390
rs1554829390
Entrez Id: 85301;105376224
Gene Symbol: COL27A1;LOC105376224
COL27A1;LOC105376224
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. 7990924 1994
dbSNP: rs1554787366
rs1554787366
Entrez Id: 85301
Gene Symbol: COL27A1
COL27A1
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. 8001137 1994
dbSNP: rs1554816354
rs1554816354
Entrez Id: 85301
Gene Symbol: COL27A1
COL27A1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. 8001137 1994
dbSNP: rs1554829390
rs1554829390
Entrez Id: 85301;105376224
Gene Symbol: COL27A1;LOC105376224
COL27A1;LOC105376224
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. 8001137 1994
dbSNP: rs1554829390
rs1554829390
Entrez Id: 85301;105376224
Gene Symbol: COL27A1;LOC105376224
COL27A1;LOC105376224
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. 8001137 1994
dbSNP: rs1554787366
rs1554787366
Entrez Id: 85301
Gene Symbol: COL27A1
COL27A1
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1. 12714037 2003
dbSNP: rs1554816354
rs1554816354
Entrez Id: 85301
Gene Symbol: COL27A1
COL27A1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1. 12714037 2003
dbSNP: rs1554829390
rs1554829390
Entrez Id: 85301;105376224
Gene Symbol: COL27A1;LOC105376224
COL27A1;LOC105376224
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1. 12714037 2003
dbSNP: rs1554829390
rs1554829390
Entrez Id: 85301;105376224
Gene Symbol: COL27A1;LOC105376224
COL27A1;LOC105376224
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1. 12714037 2003
dbSNP: rs1554787366
rs1554787366
Entrez Id: 85301
Gene Symbol: COL27A1
COL27A1
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR A novel and highly conserved collagen (pro(alpha)1(XXVII)) with a unique expression pattern and unusual molecular characteristics establishes a new clade within the vertebrate fibrillar collagen family. 12766169 2003
dbSNP: rs1554816354
rs1554816354
Entrez Id: 85301
Gene Symbol: COL27A1
COL27A1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR A novel and highly conserved collagen (pro(alpha)1(XXVII)) with a unique expression pattern and unusual molecular characteristics establishes a new clade within the vertebrate fibrillar collagen family. 12766169 2003
dbSNP: rs1554829390
rs1554829390
Entrez Id: 85301;105376224
Gene Symbol: COL27A1;LOC105376224
COL27A1;LOC105376224
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR A novel and highly conserved collagen (pro(alpha)1(XXVII)) with a unique expression pattern and unusual molecular characteristics establishes a new clade within the vertebrate fibrillar collagen family. 12766169 2003
dbSNP: rs1554829390
rs1554829390
Entrez Id: 85301;105376224
Gene Symbol: COL27A1;LOC105376224
COL27A1;LOC105376224
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR A novel and highly conserved collagen (pro(alpha)1(XXVII)) with a unique expression pattern and unusual molecular characteristics establishes a new clade within the vertebrate fibrillar collagen family. 12766169 2003
dbSNP: rs1554787366
rs1554787366
Entrez Id: 85301
Gene Symbol: COL27A1
COL27A1
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR The new collagen gene COL27A1 contains SOX9-responsive enhancer elements. 15922909 2005
dbSNP: rs1554816354
rs1554816354
Entrez Id: 85301
Gene Symbol: COL27A1
COL27A1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR The new collagen gene COL27A1 contains SOX9-responsive enhancer elements. 15922909 2005
dbSNP: rs1554829390
rs1554829390
Entrez Id: 85301;105376224
Gene Symbol: COL27A1;LOC105376224
COL27A1;LOC105376224
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR The new collagen gene COL27A1 contains SOX9-responsive enhancer elements. 15922909 2005
dbSNP: rs1554829390
rs1554829390
Entrez Id: 85301;105376224
Gene Symbol: COL27A1;LOC105376224
COL27A1;LOC105376224
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR The new collagen gene COL27A1 contains SOX9-responsive enhancer elements. 15922909 2005