|
| Entrez Id: |
26154 |
| Gene Symbol: |
ABCA12 |
ABCA12
|
0.900 |
Biomarker
|
disease |
MGD |
Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis.
|
27551807 |
2016 |
|
| Entrez Id: |
26154 |
| Gene Symbol: |
ABCA12 |
ABCA12
|
0.900 |
GermlineCausalMutation
|
disease |
ORPHANET |
Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosis.
|
19179616 |
2009 |
|
| Entrez Id: |
26154 |
| Gene Symbol: |
ABCA12 |
ABCA12
|
0.900 |
Biomarker
|
disease |
MGD |
ABCA12 maintains the epidermal lipid permeability barrier by facilitating formation of ceramide linoleic esters.
|
18957418 |
2008 |
|
| Entrez Id: |
26154 |
| Gene Symbol: |
ABCA12 |
ABCA12
|
0.900 |
Biomarker
|
disease |
MGD |
A mouse model of harlequin ichthyosis delineates a key role for Abca12 in lipid homeostasis.
|
18802465 |
2008 |
|
| Entrez Id: |
26154 |
| Gene Symbol: |
ABCA12 |
ABCA12
|
0.900 |
Biomarker
|
disease |
MGD |
Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects.
|
18632686 |
2008 |
|
| Entrez Id: |
26154 |
| Gene Symbol: |
ABCA12 |
ABCA12
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity.
|
16675967 |
2006 |
|
| Entrez Id: |
26154 |
| Gene Symbol: |
ABCA12 |
ABCA12
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
ABCA12 is the major harlequin ichthyosis gene.
|
16902423 |
2006 |
|
| Entrez Id: |
26154 |
| Gene Symbol: |
ABCA12 |
ABCA12
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
| Entrez Id: |
26154 |
| Gene Symbol: |
ABCA12 |
ABCA12
|
0.900 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| Entrez Id: |
26154 |
| Gene Symbol: |
ABCA12 |
ABCA12
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
26154 |
| Gene Symbol: |
ABCA12 |
ABCA12
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
1474 |
| Gene Symbol: |
CST6 |
CST6
|
0.200 |
Biomarker
|
disease |
MGD |
Evidence that unrestricted legumain activity is involved in disturbed epidermal cornification in cystatin M/E deficient mice.
|
15044380 |
2004 |
|
| Entrez Id: |
1474 |
| Gene Symbol: |
CST6 |
CST6
|
0.200 |
Biomarker
|
disease |
MGD |
A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification.
|
12393798 |
2002 |
|
| Entrez Id: |
1474 |
| Gene Symbol: |
CST6 |
CST6
|
0.200 |
Biomarker
|
disease |
MGD |
Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis.
|
9212754 |
1997 |
|
| Entrez Id: |
5652 |
| Gene Symbol: |
PRSS8 |
PRSS8
|
0.200 |
Biomarker
|
disease |
MGD |
|
|
|
|
| Entrez Id: |
5277 |
| Gene Symbol: |
PIGA |
PIGA
|
0.200 |
Biomarker
|
disease |
MGD |
|
|
|
|
| Entrez Id: |
101928103 |
| Gene Symbol: |
SNHG31 |
SNHG31
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
101928103 |
| Gene Symbol: |
SNHG31 |
SNHG31
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|