×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
0.770
Biomarker
disease
GENOMICS_ENGLAND
Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome.
27011056
2016
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
0.770
GeneticVariation
disease
BEFREE
This finding postulates an autosomal-recessive mode of inheritance in ICH , which, unlike the autosomal-dominant inheritance associated with COL1A1 , is associated with AHSG and fetuin-A deficiency.
31288248
2019
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
0.770
GeneticVariation
disease
BEFREE
The results reveal that Caffey disease is genetically heterogeneous and that affected and unaffected adult patients with or without the common COL1A1 mutation have normal bone mineral density.
24390061
2014
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
0.770
GeneticVariation
disease
BEFREE
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease ) expands the spectrum of collagen-related disorders.
15864348
2005
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
0.770
Biomarker
disease
CTD_human
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
0.770
GeneticVariation
disease
BEFREE
The case being reported is a 7- month-old Indian boy with Caffey disease who was found to have the R1014C heterozygous mutation in the COL1A1 gene.
21249479
2011
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
0.770
GeneticVariation
disease
CLINVAR
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
0.770
GeneticVariation
disease
BEFREE
A heterozygous mutation for a 3040C-->T in exon 41 of COL1A1 was found in affected individuals, further confirming the autosomal dominance of Caffey disease that is caused by this particular mutation.
17309652
2007
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
0.770
GeneticVariation
disease
BEFREE
Infantile cortical hyperostosis and COL1A1 mutation in four generations.
21567126
2011
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
0.770
Biomarker
disease
GENOMICS_ENGLAND
SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II.
8100209
1993
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
0.770
GeneticVariation
disease
UNIPROT
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease ) expands the spectrum of collagen-related disorders.
15864348
2005
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
0.770
GeneticVariation
disease
BEFREE
Our result supported that ICH is caused by the single mutation in COL1A1 with incomplete penetrance.
18704262
2008
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
0.770
GeneticVariation
disease
LHGDN
The c.3040C > T mutation in COL1A1 is recurrent in Korean patients with infantile cortical hyperostosis (Caffey disease ).
18704262
2008
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
0.770
CausalMutation
disease
CLINVAR
×
Entrez Id:
53947
Gene Symbol:
A4GALT
A4GALT
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
197
Gene Symbol:
AHSG
AHSG
0.010
GeneticVariation
disease
BEFREE
A novel homozygous nonsense mutation in AHSG gene has been found in ICH patient with a typical phenotype, resulting in fetuin-A deficiency.
31288248
2019
×
Entrez Id:
1278
Gene Symbol:
COL1A2
COL1A2
0.010
Biomarker
disease
BEFREE
In the present study, we performed mutation analysis of the COL1A1 and COL1A2 genes and measured bone mineral density in two Japanese familial cases of Caffey disease .
24390061
2014
×
Entrez Id:
219855
Gene Symbol:
SLC37A2
SLC37A2
0.010
Biomarker
disease
BEFREE
CMO is a clinical equivalent to an infantile cortical hyperostosis (Caffey disease ), for which SLC37A2 is a new candidate gene.
27187611
2016