Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.770 Biomarker disease CTD_human
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.770 GeneticVariation disease CLINVAR
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: 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 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 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 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 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 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 BEFREE Infantile cortical hyperostosis and COL1A1 mutation in four generations. 21567126 2011
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: 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: 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: 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
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: 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