HELIX SYNDROME
|
0.610 |
GeneticVariation
|
disease |
BEFREE |
Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome.
|
28771254 |
2018 |
HELIX SYNDROME
|
0.610 |
GeneticVariation
|
disease |
UNIPROT |
Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome.
|
28771254 |
2018 |
HELIX SYNDROME
|
0.610 |
GeneticVariation
|
disease |
UNIPROT |
Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage.
|
28686597 |
2017 |
HELIX SYNDROME
|
0.610 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia.
|
19307729 |
2009 |
HELIX SYNDROME
|
0.610 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Hypermagnesemia
|
0.110 |
Biomarker
|
disease |
BEFREE |
Mice lacking claudin-16 display magnesium and calcium wasting, whereas absence of claudin-10 results in hypermagnesemia and interstitial nephrocalcinosis.
|
29129401 |
2018 |
Hypermagnesemia
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
Ferritin measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation?
|
28334935 |
2017 |
Serum ferritin measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation?
|
28334935 |
2017 |
Hypocalciuria
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Hypohidrosis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Hypokalemia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Polyuria
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Xerostomia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Polydipsia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Dry skin
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Intolerant of heat
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Alacrima
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Hypermagnesemia result
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Renal Insufficiency
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Dry Skin, CTCAE
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Hypermagnesemia, CTCAE
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Tumor Cell Invasion
|
0.030 |
Biomarker
|
phenotype |
BEFREE |
<i>In vitro</i>, CLDN10 could promote cellular proliferation, migration, and invasion in PTC cell lines.
|
30588256 |
2018 |
Liver carcinoma
|
0.030 |
AlteredExpression
|
disease |
BEFREE |
For instance, Claudin-10(CLDN10) is the high expression in primary hepatocellular carcinoma, papillary thyroid cancer (PTC) and so on.
|
30588256 |
2018 |
Tumor Cell Invasion
|
0.030 |
Biomarker
|
phenotype |
BEFREE |
These findings showed that CLDN-10 is functionally involved in hepatocellular carcinoma invasion and is a potential target for hepatocellular carcinoma therapy.
|
18025272 |
2007 |