CHI3L1, chitinase 3 like 1, 1116

N. diseases: 420; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.500 Biomarker disease CTD_human
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.500 Biomarker disease HPO
CUI: C2677770
Disease: ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7
ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7 		0.300 Biomarker phenotype CTD_human
CUI: C0011253
Disease: Delusions
Delusions 		0.100 Biomarker disease HPO
CUI: C0018524
Disease: Hallucinations
Hallucinations 		0.100 Biomarker disease HPO
CUI: C0027562
Disease: Negativism
Negativism 		0.100 Biomarker phenotype HPO
CUI: C1866986
Disease: Social and occupational deterioration
Social and occupational deterioration 		0.100 Biomarker phenotype HPO
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.350 Biomarker disease BEFREE To evaluate the possible utility of YKL-40 in the assessment of joint disease, we measured YKL-40 in serum and SF of 49 patients with various forms of inflammatory and degenerative joint disease and in the serum of 50 normal adults. 8220933 1993
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.100 Biomarker disease BEFREE Neither the protein nor mRNA for HC gp-39 was detectable in normal newborn or adult human articular cartilage obtained at surgery, while mRNA for HC gp-39 was detectable both in synovial specimens and in cartilage obtained from patients with rheumatoid arthritis. 8245017 1993
CUI: C0398689
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 1
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.050 GeneticVariation disease BEFREE These data suggest that a defect in gp39 is the basis of X-linked HIM. 7678782 1993
CUI: C0022408
Disease: Arthropathy
Arthropathy 		0.040 Biomarker group BEFREE The YKL-40 level in serum was significantly higher (P < 0.001) in the patients compared to the normal adults, but there was no difference in serum YKL-40 between the patients with inflammatory joint diseases and OA. 8220933 1993
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.020 AlteredExpression disease BEFREE We report the development of the first radioimmunoassay for YKL-40, a M(r) = 40 kDa protein which is secreted at high levels by human synovial cells and articular cartilage chondrocytes, and by the human osteosarcoma cell line MG63. 8220933 1993
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.020 AlteredExpression disease BEFREE We report the development of the first radioimmunoassay for YKL-40, a M(r) = 40 kDa protein which is secreted at high levels by human synovial cells and articular cartilage chondrocytes, and by the human osteosarcoma cell line MG63. 8220933 1993
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.020 AlteredExpression disease BEFREE We report the development of the first radioimmunoassay for YKL-40, a M(r) = 40 kDa protein which is secreted at high levels by human synovial cells and articular cartilage chondrocytes, and by the human osteosarcoma cell line MG63. 8220933 1993
CUI: C0272236
Disease: Hyperimmunoglobulin M syndrome
Hyperimmunoglobulin M syndrome 		0.010 GeneticVariation disease BEFREE These data suggest that a defect in gp39 is the basis of X-linked HIM. 7678782 1993
CUI: C0398689
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 1
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.050 Biomarker disease BEFREE Unlike some other X-linked defects where extreme Lyonization may lead to disease, a small population of cells expressing the wild-type gp39 is sufficient to maintain normal humoral immunity and prevent the clinical symptoms of X-HIM. 7518839 1994
CUI: C0398689
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 1
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.050 GeneticVariation disease BEFREE The molecular defect in X-linked hyper-IgM syndrome has been shown to reside in the gene encoding the T-cell activation protein gp39 (CD40L, TRAP). 9371254 1994
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.050 Biomarker disease BEFREE These findings suggest a functional role of CD40 on KC in inflammatory skin disorders such as psoriasis and could make a therapeutic intervention by disrupting the CD40/gp39 pathway an approach to consider in these inflammatory skin diseases. 8898941 1996
CUI: C0398689
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 1
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.050 GeneticVariation disease BEFREE Using a detailed three-dimensional model of the gp39 extracellular region, we have analyzed 20 mutations in gp39 that were, with one exception, isolated from patients with X-linked hyper IgM (XHIM) syndrome. 16509032 1996
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		0.010 Biomarker group BEFREE These findings suggest a functional role of CD40 on KC in inflammatory skin disorders such as psoriasis and could make a therapeutic intervention by disrupting the CD40/gp39 pathway an approach to consider in these inflammatory skin diseases. 8898941 1996
CUI: C0398689
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 1
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.050 GeneticVariation disease BEFREE X-linked hyper-IgM syndrome (XHIM) is a severe congenital immunodeficiency caused by mutations in CD154 (CD40 ligand, gp39), the T cell ligand for CD40 on B cells. 9857288 1998
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.100 AlteredExpression disease BEFREE Strong induction of members of the chitinase family of proteins in atherosclerosis: chitotriosidase and human cartilage gp-39 expressed in lesion macrophages. 10073974 1999
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.100 AlteredExpression disease BEFREE Strong induction of members of the chitinase family of proteins in atherosclerosis: chitotriosidase and human cartilage gp-39 expressed in lesion macrophages. 10073974 1999
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.030 AlteredExpression disease BEFREE Chitotriosidase and human cartilage gp-39 (HC gp-39) are members of the chitinase family of proteins and are expressed in lipid-laden macrophages accumulated in various organs during Gaucher disease. 10073974 1999
CUI: C0017638
Disease: Glioma
Glioma 		0.400 AlteredExpression disease BEFREE Western blot analysis of glioma samples for YKL-40 protein levels revealed substantial elevation in approximately 65% of GBMs and undetectable levels in lower-grade gliomas (grade II and III) or normal brain tissue. 12154041 2002