|
Ichthyosis Congenita I
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Ichthyosis Congenita I
|
0.900 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Ichthyosis Congenita I
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Ichthyosis Congenita I
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity.
|
7581379 |
1995 |
|
Ichthyosis Congenita I
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis.
|
7773290 |
1995 |
|
Ichthyosis Congenita I
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis.
|
7773290 |
1995 |
|
Ichthyosis Congenita I
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis.
|
7773290 |
1995 |
|
Ichthyosis Congenita I
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Mutations of keratinocyte transglutaminase in lamellar ichthyosis.
|
7824952 |
1995 |
|
Ichthyosis Congenita I
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Mutations of keratinocyte transglutaminase in lamellar ichthyosis.
|
7824952 |
1995 |
|
Ichthyosis Congenita I
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Consequences of seven novel mutations on the expression and structure of keratinocyte transglutaminase.
|
9261103 |
1997 |
|
Ichthyosis Congenita I
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population.
|
9326318 |
1997 |
|
Ichthyosis Congenita I
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population.
|
9326318 |
1997 |
|
Ichthyosis Congenita I
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population.
|
9326318 |
1997 |
|
Ichthyosis Congenita I
|
0.900 |
Biomarker
|
disease |
MGD |
Defective stratum corneum and early neonatal death in mice lacking the gene for transglutaminase 1 (keratinocyte transglutaminase).
|
9448282 |
1998 |
|
Ichthyosis Congenita I
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Prenatal exclusion of lamellar ichthyosis based on identification of two new mutations in the transglutaminase 1 gene.
|
9457916 |
1998 |
|
Ichthyosis Congenita I
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis.
|
9545389 |
1998 |
|
Ichthyosis Congenita I
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Transglutaminase 1 mutations in lamellar ichthyosis. Loss of activity due to failure of activation by proteolytic processing.
|
9593710 |
1998 |
|
Ichthyosis Congenita I
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Transglutaminase 1 mutations in lamellar ichthyosis. Loss of activity due to failure of activation by proteolytic processing.
|
9593710 |
1998 |
|
Ichthyosis Congenita I
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Identification of mutations in the transglutaminase 1 gene in lamellar ichthyosis.
|
10232404 |
1999 |
|
Ichthyosis Congenita I
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Role of Sp1 response element in transcription of the human transglutaminase 1 gene.
|
10886517 |
2000 |
|
Ichthyosis Congenita I
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies.
|
10914678 |
2000 |
|
Ichthyosis Congenita I
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies.
|
10914678 |
2000 |
|
Ichthyosis Congenita I
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma.
|
11251583 |
2001 |
|
Ichthyosis Congenita I
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma.
|
11251583 |
2001 |
|
Ichthyosis Congenita I
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TGM1 gene.
|
11298529 |
2001 |