×
Entrez Id:
84668
Gene Symbol:
FAM126A
FAM126A
0.740
GeneticVariation
disease
UNIPROT
Hypomyelination and congenital cataract (HCC), one of these disorders, is caused by mutations in FAM126A , a gene of unknown function.
26571211
2016
×
Entrez Id:
84668
Gene Symbol:
FAM126A
FAM126A
0.740
Biomarker
disease
GENOMICS_ENGLAND
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.
25655951
2015
×
Entrez Id:
84668
Gene Symbol:
FAM126A
FAM126A
0.740
GeneticVariation
disease
BEFREE
Novel FAM126A mutations in hypomyelination and congenital cataract disease.
23998934
2013
×
Entrez Id:
84668
Gene Symbol:
FAM126A
FAM126A
0.740
GeneticVariation
disease
UNIPROT
Novel FAM126A mutations in hypomyelination and congenital cataract disease.
23998934
2013
×
Entrez Id:
84668
Gene Symbol:
FAM126A
FAM126A
0.740
Biomarker
disease
BEFREE
Hyccin , the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal protein.
22461884
2012
×
Entrez Id:
84668
Gene Symbol:
FAM126A
FAM126A
0.740
GeneticVariation
disease
UNIPROT
To further delineate the clinical spectrum of hypomyelination and congenital cataract (HCC), a rare autosomal recessive white matter disorder due to deficiency of a membrane protein, hyccin , encoded by FAM126A .
21911699
2011
×
Entrez Id:
84668
Gene Symbol:
FAM126A
FAM126A
0.740
GeneticVariation
disease
BEFREE
To further delineate the clinical spectrum of hypomyelination and congenital cataract (HCC), a rare autosomal recessive white matter disorder due to deficiency of a membrane protein, hyccin , encoded by FAM126A .
21911699
2011
×
Entrez Id:
84668
Gene Symbol:
FAM126A
FAM126A
0.740
Biomarker
disease
GENOMICS_ENGLAND
Hypomyelination and congenital cataract is a recently reported autosomal recessive white matter disorder characterized by hypomyelination of the central and peripheral nervous systems, progressive neurological impairment and congenital cataract and caused by mutations in gene DRCTNNB1A .
17928815
2008
×
Entrez Id:
84668
Gene Symbol:
FAM126A
FAM126A
0.740
Biomarker
disease
GENOMICS_ENGLAND
Deficiency of hyccin , a newly identified membrane protein, causes hypomyelination and congenital cataract .
16951682
2006
×
Entrez Id:
84668
Gene Symbol:
FAM126A
FAM126A
0.740
GermlineCausalMutation
disease
ORPHANET
Deficiency of hyccin , a newly identified membrane protein, causes hypomyelination and congenital cataract .
16951682
2006
×
Entrez Id:
84668
Gene Symbol:
FAM126A
FAM126A
0.740
GeneticVariation
disease
UNIPROT
Deficiency of hyccin , a newly identified membrane protein, causes hypomyelination and congenital cataract .
16951682
2006
×
Entrez Id:
84668
Gene Symbol:
FAM126A
FAM126A
0.740
Biomarker
disease
BEFREE
Deficiency of hyccin , a newly identified membrane protein, causes hypomyelination and congenital cataract .
16951682
2006
×
Entrez Id:
84668
Gene Symbol:
FAM126A
FAM126A
0.740
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
84668
Gene Symbol:
FAM126A
FAM126A
0.740
CausalMutation
disease
CLINVAR
×
Entrez Id:
84668
Gene Symbol:
FAM126A
FAM126A
0.740
Biomarker
disease
CTD_human
×
Entrez Id:
84668
Gene Symbol:
FAM126A
FAM126A
0.740
GeneticVariation
disease
CLINVAR