×
Entrez Id:
54757
Gene Symbol:
FAM20A
FAM20A
0.780
GeneticVariation
disease
BEFREE
Here we report the largest series of patients with ERS in a same population, and describe, for the first time, a founder mutation for FAM20A .
30394349
2019
×
Entrez Id:
54757
Gene Symbol:
FAM20A
FAM20A
0.780
Biomarker
disease
BEFREE
FAM20A immunohistochemistry revealed a strong reactivity at the suprabasal layers of epithelium in control gingiva but showed a significantly diminished and scattered signal in ERS tissues.
31131889
2019
×
Entrez Id:
54757
Gene Symbol:
FAM20A
FAM20A
0.780
GeneticVariation
disease
BEFREE
Enamel-renal-gingival syndrome (ERGS; OMIM #204690), a rare autosomal recessive disorder caused by mutations in FAM20A , is characterized by nephrocalcinosis, nephrolithiasis, amelogenesis imperfecta, hypoplastic type, gingival fibromatosis and other dental abnormalities, including hypodontia and unerupted teeth with large dental follicles.
28298625
2017
×
Entrez Id:
54757
Gene Symbol:
FAM20A
FAM20A
0.780
GeneticVariation
disease
UNIPROT
Novel FAM20A mutation causes autosomal recessive amelogenesis imperfecta.
25827751
2015
×
Entrez Id:
54757
Gene Symbol:
FAM20A
FAM20A
0.780
Biomarker
disease
GENOMICS_ENGLAND
Novel FAM20A mutation causes autosomal recessive amelogenesis imperfecta.
25827751
2015
×
Entrez Id:
54757
Gene Symbol:
FAM20A
FAM20A
0.780
GeneticVariation
disease
UNIPROT
Further evidence for causal FAM20A mutations and first case of amelogenesis imperfecta and gingival hyperplasia syndrome in Morocco: a case report.
25636655
2015
×
Entrez Id:
54757
Gene Symbol:
FAM20A
FAM20A
0.780
GeneticVariation
disease
UNIPROT
A secretory kinase complex regulates extracellular protein phosphorylation.
25789606
2015
×
Entrez Id:
54757
Gene Symbol:
FAM20A
FAM20A
0.780
GeneticVariation
disease
UNIPROT
Enamel-renal-gingival syndrome and FAM20A mutations.
24259279
2014
×
Entrez Id:
54757
Gene Symbol:
FAM20A
FAM20A
0.780
GeneticVariation
disease
BEFREE
Enamel-renal-gingival syndrome and FAM20A mutations.
24259279
2014
×
Entrez Id:
54757
Gene Symbol:
FAM20A
FAM20A
0.780
GeneticVariation
disease
UNIPROT
FAM20A mutations associated with enamel renal syndrome .
24196488
2014
×
Entrez Id:
54757
Gene Symbol:
FAM20A
FAM20A
0.780
GeneticVariation
disease
BEFREE
FAM20A mutations associated with enamel renal syndrome .
24196488
2014
×
Entrez Id:
54757
Gene Symbol:
FAM20A
FAM20A
0.780
GeneticVariation
disease
UNIPROT
Enamel-Renal-Gingival syndrome , hypodontia, and a novel FAM20A mutation.
24756937
2014
×
Entrez Id:
54757
Gene Symbol:
FAM20A
FAM20A
0.780
GeneticVariation
disease
BEFREE
We propose ERS to be the preferred term for all the phenotypes arising from recessive FAM20A mutations.
24927635
2014
×
Entrez Id:
54757
Gene Symbol:
FAM20A
FAM20A
0.780
GeneticVariation
disease
UNIPROT
Supported by the observation of severe ectopic calcifications in the kidneys of Fam20a null mice, we conclude that FAM20A , which has a kinase homology domain and localizes to the Golgi, is a putative Golgi kinase that plays a significant role in the regulation of biomineralization processes, and that mutations in FAM20A cause both AIGFS and ERS .
23468644
2013
×
Entrez Id:
54757
Gene Symbol:
FAM20A
FAM20A
0.780
GeneticVariation
disease
BEFREE
Supported by the observation of severe ectopic calcifications in the kidneys of Fam20a null mice, we conclude that FAM20A , which has a kinase homology domain and localizes to the Golgi, is a putative Golgi kinase that plays a significant role in the regulation of biomineralization processes, and that mutations in FAM20A cause both AIGFS and ERS .
23468644
2013
×
Entrez Id:
54757
Gene Symbol:
FAM20A
FAM20A
0.780
GeneticVariation
disease
UNIPROT
Autosomal recessive gingival hyperplasia and dental anomalies caused by a 29-base pair duplication in the FAM20A gene.
23697977
2013
×
Entrez Id:
54757
Gene Symbol:
FAM20A
FAM20A
0.780
Biomarker
disease
GENOMICS_ENGLAND
Amelogenesis imperfecta and other biomineralization defects in Fam20a and Fam20c null mice.
22732358
2012
×
Entrez Id:
54757
Gene Symbol:
FAM20A
FAM20A
0.780
GeneticVariation
disease
UNIPROT
This autosomal recessive disorder, also known as enamel renal syndrome , of FAM20A causes nephrocalcinosis and amelogenesis imperfecta.
23434854
2012
×
Entrez Id:
54757
Gene Symbol:
FAM20A
FAM20A
0.780
GeneticVariation
disease
BEFREE
Nephrocalcinosis (enamel renal syndrome ) caused by autosomal recessive FAM20A mutations.
23434854
2012
×
Entrez Id:
54757
Gene Symbol:
FAM20A
FAM20A
0.780
GeneticVariation
disease
UNIPROT
Novel FAM20A mutations in hypoplastic amelogenesis imperfecta.
21990045
2012
×
Entrez Id:
54757
Gene Symbol:
FAM20A
FAM20A
0.780
GermlineCausalMutation
disease
ORPHANET
This autosomal recessive disorder, also known as enamel renal syndrome , of FAM20A causes nephrocalcinosis and amelogenesis imperfecta.
23434854
2012
×
Entrez Id:
54757
Gene Symbol:
FAM20A
FAM20A
0.780
GeneticVariation
disease
UNIPROT
Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome.
21549343
2011
×
Entrez Id:
54757
Gene Symbol:
FAM20A
FAM20A
0.780
CausalMutation
disease
CLINVAR
×
Entrez Id:
54757
Gene Symbol:
FAM20A
FAM20A
0.780
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
54757
Gene Symbol:
FAM20A
FAM20A
0.780
GeneticVariation
disease
CLINVAR