Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4725861
Disease: Metastatic Malignant Neoplasm in the Viscera
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
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
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
CUI: C1956089
Disease: Osteophyte
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
CUI: C0025500
Disease: Mesothelioma
Mesothelioma 		0.010 AlteredExpression disease BEFREE Tumorigenic activities of the HAPLN1 domains were evaluated in vitro on mesothelioma cells transfected with HAPLN1-expressing constructs. 19351750 2009
CUI: C0027651
Disease: Neoplasms
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
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 AlteredExpression disease BEFREE The majority of lung cancers showed no differential expression of HAPLN1. 19351750 2009
CUI: C0812413
Disease: Malignant Pleural Mesothelioma
Malignant Pleural Mesothelioma 		0.010 Biomarker disease BEFREE Protumorigenic role of HAPLN1 and its IgV domain in malignant pleural mesothelioma. 19351750 2009
CUI: C1336476
Disease: Stage I Pleural Malignant Mesothelioma AJCC v7
Stage I Pleural Malignant Mesothelioma AJCC v7 		0.010 AlteredExpression disease BEFREE We found that HAPLN1 is 23-fold overexpressed in stage I mesothelioma and confirmed it for 76% samples (n = 53) on RNA and 97% (n = 40) on protein levels. 19351750 2009
CUI: C0007102
Disease: Malignant tumor of colon
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
CUI: C0009375
Disease: Colonic Neoplasms
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
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		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
CUI: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		0.010 Biomarker disease BEFREE Within the critical region lie genes encoding two extracellular macromolecules, link protein (CRTL1) and versican (CSPG2), which are important in binding hyaluronan, a significant component of the mammalian vitreous gel, and which therefore represent excellent candidates for Wagner syndrome. 10198161 1999
CUI: C0029408
Disease: Degenerative polyarthritis
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