|
PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
RSPO1/β-catenin signaling pathway regulates oogonia differentiation and entry into meiosis in the mouse fetal ovary.
|
21991325 |
2011 |
|
PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
R-spondin1 is essential in sex determination, skin differentiation and malignancy.
|
17041600 |
2006 |
|
Keratoderma, Palmoplantar
|
0.420 |
GeneticVariation
|
disease |
BEFREE |
Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype.
|
29575617 |
2018 |
|
Keratoderma, Palmoplantar
|
0.420 |
GeneticVariation
|
disease |
BEFREE |
Homozygous RSPO1 mutations cause a syndrome of 46,XX disorder of sexual development (DSD), palmoplantar keratoderma (PPK), and predisposition to squamous cell carcinoma.
|
29262419 |
2017 |
|
Keratoderma, Palmoplantar
|
0.420 |
Biomarker
|
disease |
HPO |
|
|
|
|
Keratoderma, Palmoplantar
|
0.420 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Carcinoma, Ovarian Epithelial
|
0.320 |
Biomarker
|
disease |
BEFREE |
In addition, recombinant R-spondin 1 protects ovarian cancer cell against chemotherapy whereas R-spondin 1 knockdown sensitizes ovarian cancer cell response to chemotherapy.
|
30572097 |
2019 |
|
Carcinoma, Ovarian Epithelial
|
0.320 |
Biomarker
|
disease |
CTD_human |
Variants at 1p36 (nearest gene, WNT4), 4q26 (SYNPO2), 9q34.2 (ABO) and 17q11.2 (ATAD5) were associated with EOC risk, and at 1p34.3 (RSPO1) and 6p22.1 (GPX6) variants were specifically associated with the serous EOC subtype, all with P < 5 × 10(-8).
|
25581431 |
2015 |
|
Carcinoma, Ovarian Epithelial
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
Variants at 1p36 (nearest gene, WNT4), 4q26 (SYNPO2), 9q34.2 (ABO) and 17q11.2 (ATAD5) were associated with EOC risk, and at 1p34.3 (RSPO1) and 6p22.1 (GPX6) variants were specifically associated with the serous EOC subtype, all with P < 5 × 10(-8).
|
25581431 |
2015 |
|
Palmoplantar Hyperkeratosis And True Hermaphroditism
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
R-spondin1 is essential in sex determination, skin differentiation and malignancy.
|
17041600 |
2006 |
|
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
ovarian neoplasm
|
0.110 |
Biomarker
|
disease |
BEFREE |
In addition, recombinant R-spondin 1 protects ovarian cancer cell against chemotherapy whereas R-spondin 1 knockdown sensitizes ovarian cancer cell response to chemotherapy.
|
30572097 |
2019 |
|
ovarian neoplasm
|
0.110 |
GeneticVariation
|
disease |
GWASCAT |
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.
|
28346442 |
2017 |
|
Epithelial ovarian cancer
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
Variants at 1p36 (nearest gene, WNT4), 4q26 (SYNPO2), 9q34.2 (ABO) and 17q11.2 (ATAD5) were associated with EOC risk, and at 1p34.3 (RSPO1) and 6p22.1 (GPX6) variants were specifically associated with the serous EOC subtype, all with P < 5 × 10(-8).
|
25581431 |
2015 |
|
Epithelial ovarian cancer
|
0.110 |
GeneticVariation
|
disease |
GWASCAT |
Identification of six new susceptibility loci for invasive epithelial ovarian cancer.
|
25581431 |
2015 |
|
True Hermaphroditism (disorder)
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
We report mutational analysis of the RSPO1 gene in a 46,XX woman with true hermaphroditism, palmoplantar keratoderma, congenital bilateral corneal opacities, onychodystrophy, and hearing impairment.
|
18085567 |
2008 |
|
Squamous cell carcinoma of skin
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
Here we show that human R-spondin1 (RSPO1) is the gene disrupted in a recessive syndrome characterized by XX sex reversal, palmoplantar hyperkeratosis and predisposition to squamous cell carcinoma of the skin.
|
17041600 |
2006 |
|
True Hermaphroditism (disorder)
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
|
Squamous cell carcinoma of skin
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
|
Tonometry
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma.
|
30054594 |
2018 |
|
Tonometry
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.
|
29785010 |
2018 |
|
Ovarian Serous Adenocarcinoma
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.
|
28346442 |
2017 |
|
Ocular axial length
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
|
24144296 |
2013 |
|
Carcinoma
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
|
Gynecomastia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|