Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554829390
rs1554829390
COL27A1 ; LOC105376224
CUI: C0000772
Disease: Multiple congenital anomalies
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: rs1554829390
rs1554829390
COL27A1 ; LOC105376224
CUI: C0000772
Disease: Multiple congenital anomalies
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: rs1554829390
rs1554829390
COL27A1 ; LOC105376224
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Collagen XXVII organises the pericellular matrix in the growth plate. 22206015

2011
dbSNP: rs1554829390
rs1554829390
COL27A1 ; LOC105376224
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Critical early roles for col27a1a and col27a1b in zebrafish notochord morphogenesis, vertebral mineralization and post-embryonic axial growth. 20041163

2009
dbSNP: rs1554829390
rs1554829390
COL27A1 ; LOC105376224
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR The transcription factor Lc-Maf participates in Col27a1 regulation during chondrocyte maturation. 19414009

2009
dbSNP: rs1554829390
rs1554829390
COL27A1 ; LOC105376224
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations. 19204719

2009
dbSNP: rs1554829390
rs1554829390
COL27A1 ; LOC105376224
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Type XXVII collagen at the transition of cartilage to bone during skeletogenesis. 17693149

2007
dbSNP: rs1554829390
rs1554829390
COL27A1 ; LOC105376224
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Collagen XXVII is developmentally regulated and forms thin fibrillar structures distinct from those of classical vertebrate fibrillar collagens. 17331945

2007
dbSNP: rs1554829390
rs1554829390
COL27A1 ; LOC105376224
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR The new collagen gene COL27A1 contains SOX9-responsive enhancer elements. 15922909

2005
dbSNP: rs1554829390
rs1554829390
COL27A1 ; LOC105376224
CUI: C0000772
Disease: Multiple congenital anomalies
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
COL27A1 ; LOC105376224
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1. 12714037

2003
dbSNP: rs1554829390
rs1554829390
COL27A1 ; LOC105376224
CUI: C0000772
Disease: Multiple congenital anomalies
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: rs1554829390
rs1554829390
COL27A1 ; LOC105376224
CUI: C0000772
Disease: Multiple congenital anomalies
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