Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 Biomarker disease CTD_human Genomic and epigenomic integration identifies a prognostic signature in colon cancer. 21278247 2011
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.500 GeneticVariation disease UNIPROT
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.300 Biomarker group CTD_human Genomic and epigenomic integration identifies a prognostic signature in colon cancer. 21278247 2011
CUI: C0003873
Disease: Rheumatoid Arthritis
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
CUI: C0013336
Disease: Dwarfism
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
CUI: C0206762
Disease: Limb Deformities, Congenital
Limb Deformities, Congenital
0.300 Biomarker group CTD_human Mice lacking link protein develop dwarfism and craniofacial abnormalities. 9988279 1999
CUI: C0376634
Disease: Craniofacial Abnormalities
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 Genetic rescue of chondrodysplasia and the perinatal lethal effect of cartilage link protein deficiency. 12732630 2003
Spondyloepiphyseal dysplasia, congenita
0.200 Biomarker disease MGD Mice lacking link protein develop dwarfism and craniofacial abnormalities. 9988279 1999
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.020 Biomarker phenotype BEFREE Age-Related Changes in HAPLN1 Increase Lymphatic Permeability and Affect Routes of Melanoma Metastasis. 30279172 2019
CUI: C0027627
Disease: Neoplasm Metastasis
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
Metastatic Malignant Neoplasm in the Viscera
0.010 Biomarker disease BEFREE <i>In vivo</i>, reconstitution of HAPLN1 in aged mice increased the number of LN metastases, but reduced visceral metastases. 30279172 2019
CUI: C0026764
Disease: Multiple Myeloma
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
CUI: C0026847
Disease: Spinal Muscular Atrophy
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
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.010 Biomarker disease BEFREE These results indicated that CRT1, an ent‑kaurane diterpenoid, may be a potential inhibitor of ovarian cancer by the activating ERK1/2/p90 ribosomal S6 kinase signaling pathway. 30106144 2018
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.010 Biomarker disease BEFREE These results indicated that CRT1, an ent‑kaurane diterpenoid, may be a potential inhibitor of ovarian cancer by the activating ERK1/2/p90 ribosomal S6 kinase signaling pathway. 30106144 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 Biomarker phenotype BEFREE Additionally, CRT1 inhibited cell migration and invasion via ERK1/2 activation in SKOV3 cells. 30106144 2018
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.010 Biomarker disease BEFREE These results indicated that CRT1, an ent‑kaurane diterpenoid, may be a potential inhibitor of ovarian cancer by the activating ERK1/2/p90 ribosomal S6 kinase signaling pathway. 30106144 2018
CUI: C2745963
Disease: Kashin-Beck Disease
Kashin-Beck Disease
0.010 PosttranslationalModification disease BEFREE MS and IHC confirmed the hypermethylation status and decreased protein expression of HAPLN1 gene in KBD cartilage. 28818737 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.010 Biomarker disease BEFREE In conclusion, HAPLN1 reflects a signaling network leading to stemness, mesenchymal commitment and HCC progression. 27191501 2016
CUI: C0038013
Disease: Ankylosing spondylitis
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
CUI: C0015302
Disease: External exotoses
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
CUI: C0158266
Disease: Intervertebral Disc Degeneration
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
CUI: C0850918
Disease: Degeneration of spine
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