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 GeneticVariation disease UNIPROT
CUI: C0410538
Disease: Pseudoachondroplasia
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
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		0.010 Biomarker disease BEFREE We report the exclusion of the genes encoding two cartilage-specific proteins, the cartilage link protein and the cartilage matrix protein, in several chondrodysplasia pedigrees in which COL2A1 had previously been excluded as the mutant locus. 7989046 1994
CUI: C0432211
Disease: Spondyloepimetaphyseal disorder
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
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
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
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		0.200 Biomarker disease MGD Mice lacking link protein develop dwarfism and craniofacial abnormalities. 9988279 1999
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: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		0.200 Biomarker disease MGD Genetic rescue of chondrodysplasia and the perinatal lethal effect of cartilage link protein deficiency. 12732630 2003
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: 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: 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: 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: 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