Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hypoplasia of the capital femoral epiphysis
0.100 Biomarker phenotype HPO
Delayed ossification of carpal bones
0.100 Biomarker phenotype HPO
CUI: C1844704
Disease: Platyspondyly
Platyspondyly
0.100 GeneticVariation phenotype CLINVAR
CUI: C1844704
Disease: Platyspondyly
Platyspondyly
0.100 Biomarker phenotype HPO
CUI: C1845847
Disease: Coarse facial features
Coarse facial features
0.100 Biomarker phenotype HPO
CUI: C1854301
Disease: Motor delay
Motor delay
0.100 Biomarker phenotype HPO
CUI: C1866231
Disease: Full cheeks
Full cheeks
0.100 Biomarker phenotype HPO
CUI: C1866730
Disease: Rhizomelia
Rhizomelia
0.100 GeneticVariation disease CLINVAR
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.100 Biomarker group HPO
CUI: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood
0.100 Biomarker phenotype HPO
CUI: C0036916
Disease: Sexually Transmitted Diseases
Sexually Transmitted Diseases
0.020 Biomarker group BEFREE <b>Purpose.</b> We evaluated the Sekure rapid plasma reagin (RPR-S) (Sekisui Diagnostics) automated quantitative latex immunoturbidimetric assay performed on the SK500 clinical chemistry system for clinical appropriateness.<b>Methodology.</b> Syphilis-infected individuals and controls were recruited into a prospective cohort study conducted at a sexually transmitted infection clinic in Antwerp, Belgium. 28792374 2017
CUI: C0042164
Disease: Uveitis
Uveitis
0.010 Biomarker disease BEFREE <i>Methods</i>: We retrospectively reviewed the records of CSF analysis of 14 patients with syphilitic uveitis with treponemal analysis - chemiluminescent immunoassay and TPHA- and non-treponemal analysis - Rapid Plasma Reagin test - RPR. 31647700 2019
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
0.700 GeneticVariation disease UNIPROT EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay. 28148688 2017
CUI: C0015302
Disease: External exotoses
External exotoses
0.010 Biomarker disease BEFREE Exostoses like-3 (EXTL3) is a putative tumour suppressor gene but its involvement in colorectal cancer (CRC) is unclear. 18543267 2008
CUI: C1442903
Disease: Exostoses
Exostoses
0.010 Biomarker phenotype BEFREE Exostoses like-3 (EXTL3) is a putative tumour suppressor gene but its involvement in colorectal cancer (CRC) is unclear. 18543267 2008
CUI: C0153633
Disease: Malignant neoplasm of brain
Malignant neoplasm of brain
0.010 Biomarker disease BEFREE RPR/INGN 201 is undergoing phase I trials for the potential treatment of lung, breast, ovarian, bladder, liver and brain cancers. 12749760 2003
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency
0.010 Biomarker disease BEFREE EXTL3 was most abundant in hematopoietic stem cells and early progenitor T cells, which is in line with a SCID phenotype at the level of early T cell development in the thymus. 28132690 2017
CUI: C0015967
Disease: Fever
Fever
0.010 Biomarker phenotype BEFREE EXTL3ΔN is quite stable, as high temperature (∼59 °C) was required for denaturation. 29346724 2018
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.020 Biomarker disease BEFREE Ad5CMVp53 (RPR/INGN 201) has previously shown promise in both patients with lung cancer and those with head and neck cancer. 10854146 2000
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.010 Biomarker disease BEFREE Ad5CMVp53 (RPR/INGN 201) has previously shown promise in both patients with lung cancer and those with head and neck cancer. 10854146 2000
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.010 Biomarker disease BEFREE Ad5CMVp53 (RPR/INGN 201) has previously shown promise in both patients with lung cancer and those with head and neck cancer. 10854146 2000
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm
0.010 Biomarker disease BEFREE Ad5CMVp53 (RPR/INGN 201) has previously shown promise in both patients with lung cancer and those with head and neck cancer. 10854146 2000
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma
0.010 Biomarker disease BEFREE Ad5CMVp53 (RPR/INGN 201) has previously shown promise in both patients with lung cancer and those with head and neck cancer. 10854146 2000
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.050 Biomarker group BEFREE Although there is still no definitive evidence that EXTL3 is a tumor suppressor gene for CRC, these data suggest that inactivation of the EXTL3 gene may at least offer a selective growth advantage for some CRC cell lines. 10536173 1999
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.020 Biomarker disease BEFREE Although there is still no definitive evidence that EXTL3 is a tumor suppressor gene for CRC, these data suggest that inactivation of the EXTL3 gene may at least offer a selective growth advantage for some CRC cell lines. 10536173 1999