|
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
UNIPROT |
|
|
|
|
External exotoses
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Single-nucleotide polymorphism in the hyaluronan and proteoglycan link protein 1 (HAPLN1) gene is associated with spinal osteophyte formation and disc degeneration in Japanese women.
|
20953637 |
2011 |
|
Neoplasms
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Analysis of DNA copy number alterations identified recurrent gain in the 5q14.3 HAPLN1 locus in approximately 27% of tumors.
|
19351750 |
2009 |
|
Degenerative polyarthritis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Investigation of the association of the CRTM and CRTL1 genes with radiographically evident osteoarthritis in subjects from the Rotterdam study.
|
9336408 |
1997 |
|
Ankylosing spondylitis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
A recent genome-wide association study (GWAS) showed that two new susceptibility loci between EDIL3 and HAPLN1 at 5q14.3 (rs4552569) and within ANO6 at 12q12 (rs17095830) contribute to the risk of AS in Han Chinese.
|
23308121 |
2013 |
|
Intervertebral Disc Degeneration
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Single-nucleotide polymorphism in the hyaluronan and proteoglycan link protein 1 (HAPLN1) gene is associated with spinal osteophyte formation and disc degeneration in Japanese women.
|
20953637 |
2011 |
|
Pseudoachondroplasia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Linkage to 2 cartilage-specific candidate genes, type II collagen (COL2A1) and proteoglycan link protein genes (CRTL1), was tested in 9 autosomal dominant families with pseudoachondroplasia.
|
1442879 |
1992 |
|
Spondyloepimetaphyseal disorder
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
A four-generation kindred (14 affected and 10 unaffected members) from Missouri, U.S.A. in which spondyloepimetaphyseal dysplasia (SEMD) had been inherited as an autosomal dominant disorder was investigated for linkage to 13 candidate loci: COL2AI, COL9AI, COL9A2, COL9A3, COL10A1, COL11A1, COL11A2, PSACH, FGFR3, decorin, CRTL1, COMP, and PTHRP.
|
9258750 |
1997 |
|
Degeneration of spine
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Consistent with the involvement of the HAPLN1 gene in cartilage metabolism, a variation in a specific HAPLN1 gene locus may be associated with spinal degeneration.
|
20953637 |
2011 |
|
Osteophyte
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Single-nucleotide polymorphism in the hyaluronan and proteoglycan link protein 1 (HAPLN1) gene is associated with spinal osteophyte formation and disc degeneration in Japanese women.
|
20953637 |
2011 |
|
Colorectal Carcinoma
|
0.500 |
Biomarker
|
disease |
CTD_human |
Genomic and epigenomic integration identifies a prognostic signature in colon cancer.
|
21278247 |
2011 |
|
Rheumatoid Arthritis
|
0.300 |
Biomarker
|
disease |
CTD_human |
Distinctive gene expression signatures in rheumatoid arthritis synovial tissue fibroblast cells: correlates with disease activity.
|
17568789 |
2007 |
|
Colorectal Neoplasms
|
0.300 |
Biomarker
|
group |
CTD_human |
Genomic and epigenomic integration identifies a prognostic signature in colon cancer.
|
21278247 |
2011 |
|
Dwarfism
|
0.300 |
Biomarker
|
disease |
CTD_human |
Most Crtl1(tm1Nid/tm1Nid) mice died shortly after birth due to respiratory failure, but some survived and developed progressive dwarfism and lordosis of the cervical spine.
|
9988279 |
1999 |
|
Limb Deformities, Congenital
|
0.300 |
Biomarker
|
group |
CTD_human |
Mice lacking link protein develop dwarfism and craniofacial abnormalities.
|
9988279 |
1999 |
|
Craniofacial Abnormalities
|
0.300 |
Biomarker
|
group |
CTD_human |
Mice lacking link protein develop dwarfism and craniofacial abnormalities.
|
9988279 |
1999 |
|
Spondyloepiphyseal dysplasia, congenita
|
0.200 |
Biomarker
|
disease |
MGD |
Mice lacking link protein develop dwarfism and craniofacial abnormalities.
|
9988279 |
1999 |
|
Spondyloepiphyseal dysplasia, congenita
|
0.200 |
Biomarker
|
disease |
MGD |
Genetic rescue of chondrodysplasia and the perinatal lethal effect of cartilage link protein deficiency.
|
12732630 |
2003 |
|
Neoplasm Metastasis
|
0.020 |
Biomarker
|
phenotype |
BEFREE |
Age-Related Changes in HAPLN1 Increase Lymphatic Permeability and Affect Routes of Melanoma Metastasis.
|
30279172 |
2019 |
|
Neoplasm Metastasis
|
0.020 |
Biomarker
|
phenotype |
BEFREE |
Reconstituting HAPLN1 inhibited metastasis in an aged microenvironment, in 3-D skin reconstruction models, and <i>in vivo</i>.
|
30279173 |
2019 |
|
Malignant tumor of colon
|
0.010 |
Biomarker
|
disease |
BEFREE |
For the remaining 8 genes (or their human homolog), RT-PCR analysis was performed on RNA from human colon cancer cell lines and matched normal and tumor colon cancer tissues from human patients, revealing three novel targets (rat brain serine protease2, AMP deaminase 3, and cartilage link protein 1).
|
17112382 |
2006 |
|
Colonic Neoplasms
|
0.010 |
Biomarker
|
group |
BEFREE |
For the remaining 8 genes (or their human homolog), RT-PCR analysis was performed on RNA from human colon cancer cell lines and matched normal and tumor colon cancer tissues from human patients, revealing three novel targets (rat brain serine protease2, AMP deaminase 3, and cartilage link protein 1).
|
17112382 |
2006 |
|
Multiple Myeloma
|
0.010 |
Biomarker
|
disease |
BEFREE |
We propose that HAPLN1 is a novel pathogenic factor in MM that induces an atypical NF-κB activation and thereby promotes bortezomib resistance in MM cells.
|
29279332 |
2018 |
|
Spinal Muscular Atrophy
|
0.010 |
Biomarker
|
disease |
BEFREE |
Our results describe the association between PNN elements, especially HAPLN1, and SMA pathophysiology for the first time.
|
30106667 |
2018 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
The results of the present study indicated that <i>HAPLN1, hsa-miR-204</i> and <i>hsa-miR-218</i> may be involved in the pathogenesis of ccRCC.
|
29805586 |
2018 |