|
| Entrez Id: |
2312 |
| Gene Symbol: |
FLG |
FLG
|
0.110 |
CausalMutation
|
phenotype |
CLINVAR |
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis.
|
16550169 |
2006 |
|
| Entrez Id: |
2312 |
| Gene Symbol: |
FLG |
FLG
|
0.110 |
CausalMutation
|
phenotype |
CLINVAR |
Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march.
|
17030239 |
2006 |
|
| Entrez Id: |
2312 |
| Gene Symbol: |
FLG |
FLG
|
0.110 |
CausalMutation
|
phenotype |
CLINVAR |
Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations.
|
16815158 |
2006 |
|
| Entrez Id: |
2312 |
| Gene Symbol: |
FLG |
FLG
|
0.110 |
GeneticVariation
|
phenotype |
BEFREE |
Patients with AD with FLG mutations had significantly higher erythema compared to patients with AD without FLG mutations.
|
20132155 |
2010 |
|
| Entrez Id: |
340061 |
| Gene Symbol: |
STING1 |
STING1
|
0.110 |
Biomarker
|
phenotype |
BEFREE |
• SAVI is characterized by facial erythema with telangiectasia, acral/cold-sensitive tissue ulceration and amputations, and interstitial lung disease.
|
26584874 |
2016 |
|
| Entrez Id: |
4210 |
| Gene Symbol: |
MEFV |
MEFV
|
0.110 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
7518 |
| Gene Symbol: |
XRCC4 |
XRCC4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
1349 |
| Gene Symbol: |
COX7B |
COX7B
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4221 |
| Gene Symbol: |
MEN1 |
MEN1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3858 |
| Gene Symbol: |
KRT10 |
KRT10
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
64065 |
| Gene Symbol: |
PERP |
PERP
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
127534 |
| Gene Symbol: |
GJB4 |
GJB4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3248 |
| Gene Symbol: |
HPGD |
HPGD
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
643418 |
| Gene Symbol: |
LIPN |
LIPN
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3852 |
| Gene Symbol: |
KRT5 |
KRT5
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
1508 |
| Gene Symbol: |
CTSB |
CTSB
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9487 |
| Gene Symbol: |
PIGL |
PIGL
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
55630 |
| Gene Symbol: |
SLC39A4 |
SLC39A4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9333 |
| Gene Symbol: |
TGM5 |
TGM5
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
57152 |
| Gene Symbol: |
SLURP1 |
SLURP1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
1290 |
| Gene Symbol: |
COL5A2 |
COL5A2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4598 |
| Gene Symbol: |
MVK |
MVK
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
641 |
| Gene Symbol: |
BLM |
BLM
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
7508 |
| Gene Symbol: |
XPC |
XPC
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
64127 |
| Gene Symbol: |
NOD2 |
NOD2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|