CRYGC, crystallin gamma C, 1420

N. diseases: 60; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 Biomarker disease BEFREE Quantifying CCL on MRI-TBs may have a value, not previously described, to risk-stratify patients with prostate cancer before treatment. 30694605 2019
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		0.010 GeneticVariation disease BEFREE The present study has identified a novel nonsense mutation in CRYGC associated with autosomal dominant cataracts and microcornea in a Chinese family. 19204787 2009
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 Biomarker disease BEFREE Quantifying CCL on MRI-TBs may have a value, not previously described, to risk-stratify patients with prostate cancer before treatment. 30694605 2019
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 Biomarker disease BEFREE We previously reported that coated cationic liposomes (CCL) targeted with a monoclonal antibody against the disialoganglioside (GD(2)) and containing c-myb antisense oligodeoxynucleotides (asODNs) resulted in a selective inhibition of the proliferation of GD(2)-positive neuroblastoma cells in vitro. 14555535 2003
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		0.010 Biomarker disease BEFREE Our present findings suggest that CD, CXCL, CCL and IL genes may be used as biomarkers in the research of ACS and the immune response system may also play an important role in the pathogenesis of ACS. 24452942 2014
CUI: C1306759
Disease: Eosinophilic disorder
Eosinophilic disorder 		0.010 Biomarker group BEFREE Interestingly, blockage of CCL-6 with a specific neutralizing antibody, restored the reconstitution ability of HSCs while exacerbating eosinophilia airway inflammation in OVA-challenged mice. 29327730 2018
CUI: C1527287
Disease: Acanthocheilonemiasis
Acanthocheilonemiasis 		0.010 Biomarker disease BEFREE Inflammatory and regulatory CCL and CXCL chemokine and cytokine cellular responses in patients with patent Mansonella perstans filariasis. 30561772 2019
CUI: C1868683
Disease: B-CELL MALIGNANCY, LOW-GRADE
B-CELL MALIGNANCY, LOW-GRADE 		0.010 Biomarker disease BEFREE mAbs: Monoclonal antibodies; EF2: elongation factor 2; ITs: Immunotoxins; DT: Diphtheria toxin; PE: Pseudomonas exotoxin; dgA: de-glycosylated A-chain of ricin; rGel: recombinant de-glycosylated form of gelonin; NKC: natural killer cells; HTR: human transferrin receptor; EGF: epidermal growth factor; GM-CSF: granulocyte-macrophage colony-stimulating factor; DAB389: truncated Diphtheria toxin; B-CCL: B-cell chronic lymphocytic leukemia; RCC: renal cell carcinoma; GVHD: Graft-versus-host disease; EGFR: epidermal growth factor receptor; AML: acute myeloid leukemia; Fab: fragment antigen-binding; dsFv: disulfide-stabilized fragment variable; scFv: single-chain fragment variable; B-ALL: B-lineage Acute Lymphoblastic Leukemia; Fv: fragment variable; HCL: hairy cell leukemia; IL-2R: Interleukin-2 receptor; CR: complete response; CLL: chronic lymphocytic leukemia; ATL: adult T-cell leukemia; DARPins: designed Ankyrin repeat proteins; pmol: picomolar; HAMA: human-anti mouse antibody. 28282218 2017
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		0.010 Biomarker disease BEFREE CCL-L1 binds more potently to CCR5 than any other chemokine; it inhibits HIV-1 infection in vitro, and its gene occurs in variable copy numbers, some individuals failing to produce it. 15096812 2004
CUI: C2827407
Disease: Infectious Otitis Media
Infectious Otitis Media 		0.010 AlteredExpression disease BEFREE Many CCL genes showed increased expression levels during acute OM, with CCL3 being the most upregulated, at levels 600-fold higher than the baseline. 28847849 2017
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.010 Biomarker disease BEFREE We previously reported that coated cationic liposomes (CCL) targeted with a monoclonal antibody against the disialoganglioside (GD(2)) and containing c-myb antisense oligodeoxynucleotides (asODNs) resulted in a selective inhibition of the proliferation of GD(2)-positive neuroblastoma cells in vitro. 14555535 2003
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 Biomarker disease BEFREE Transfection with the bi-shSTMN1-encoding expression plasmid (pbi-shSTMN1) markedly reduced CCL-247 human colorectal cancer and SK-Mel-28 melanoma cell growth in vitro (Rao et al., 2010 ). 21612405 2011
CUI: C1852438
Disease: CATARACT, COPPOCK-LIKE
CATARACT, COPPOCK-LIKE 		0.820 CausalMutation disease CLINVAR Novel mutations in CRYGC are associated with congenital cataracts in Chinese families. 28298635 2017
CUI: C1852438
Disease: CATARACT, COPPOCK-LIKE
CATARACT, COPPOCK-LIKE 		0.820 CausalMutation disease CLINVAR A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea. 19204787 2009
CUI: C4721890
Disease: CATARACT 2, MULTIPLE TYPES
CATARACT 2, MULTIPLE TYPES 		0.800 CausalMutation disease CLINVAR
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.360 CausalMutation disease CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549 2016
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.100 CausalMutation disease CLINVAR
CUI: C4015995
Disease: CATARACT 2, COPPOCK-LIKE
CATARACT 2, COPPOCK-LIKE 		0.100 CausalMutation disease CLINVAR
CUI: C1852438
Disease: CATARACT, COPPOCK-LIKE
CATARACT, COPPOCK-LIKE 		0.820 Biomarker disease CTD_human
CUI: C0086543
Disease: Cataract
Cataract 		0.460 Biomarker disease CTD_human A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract. 10914683 2000
CUI: C0086543
Disease: Cataract
Cataract 		0.460 Biomarker disease CTD_human A 6-bp deletion in the Crygc gene leading to a nuclear and radial cataract in the mouse. 11773036 2002
CUI: C0524524
Disease: Pseudoaphakia
Pseudoaphakia 		0.300 Biomarker disease CTD_human A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract. 10914683 2000
CUI: C0524524
Disease: Pseudoaphakia
Pseudoaphakia 		0.300 Biomarker disease CTD_human A 6-bp deletion in the Crygc gene leading to a nuclear and radial cataract in the mouse. 11773036 2002
CUI: C1510497
Disease: Lens Opacities
Lens Opacities 		0.300 Biomarker phenotype CTD_human A 6-bp deletion in the Crygc gene leading to a nuclear and radial cataract in the mouse. 11773036 2002
CUI: C1510497
Disease: Lens Opacities
Lens Opacities 		0.300 Biomarker phenotype CTD_human A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract. 10914683 2000