Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.010 GeneticVariation group BEFREE In 7413 participants ages 45 to 74 years from Central American, Cuban, Dominican, Mexican, Puerto Rican, and South American backgrounds, separate, fully adjusted linear regression models revealed that TG levels were inversely associated with DSS performance; however, this relationship was no longer significant once additional cardiovascular disease risk factors were added to the model (p = .06). 31543086 2020
CUI: C0037899
Disease: Sphingolipidoses
Sphingolipidoses
0.010 GeneticVariation disease BEFREE We discuss (a) the role of the nuclear receptors DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human adrenal and reproductive dysfunction; (b) multisystem growth restriction syndromes due to gain-of-function in the growth repressors CDKN1C (IMAGE syndrome) and SAMD9 (MIRAGE syndrome), or loss of POLE1; (c) nonclassic forms of STAR and P450scc/CYP11A1 insufficiency that present with a delayed-onset adrenal phenotype and represent a surprisingly prevalent cause of undiagnosed PAI; and (d) a new sphingolipidosis causing PAI due to defects in sphingosine-1-phosphate lyase-1 (SGPL1). 31610036 2020
CUI: C4284088
Disease: MIRAGE SYNDROME
MIRAGE SYNDROME
0.010 Biomarker phenotype BEFREE We discuss (a) the role of the nuclear receptors DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human adrenal and reproductive dysfunction; (b) multisystem growth restriction syndromes due to gain-of-function in the growth repressors CDKN1C (IMAGE syndrome) and SAMD9 (MIRAGE syndrome), or loss of POLE1; (c) nonclassic forms of STAR and P450scc/CYP11A1 insufficiency that present with a delayed-onset adrenal phenotype and represent a surprisingly prevalent cause of undiagnosed PAI; and (d) a new sphingolipidosis causing PAI due to defects in sphingosine-1-phosphate lyase-1 (SGPL1). 31610036 2020
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 Biomarker disease BEFREE Both poorer DSS performance and the presence of perseveration can offer useful clinical information on the context of a thorough evaluation of the aMCI/DAT spectrum. 30931811 2019
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.010 Biomarker group BEFREE We found that genetic deletion of CARD9 was sufficient to reduce the development of both spontaneous autoimmune disease as well as DSS- or IL-10 deficiency-associated colitis in <i>Lyn<sup>-/-</sup></i> mice. 31594855 2019
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.010 GeneticVariation disease BEFREE Triptolide reduced both tumor number and tumor size in adenomatous polyposis coli (Apc) mutated (Apc<sup>Min/+</sup>) mice as well as AOM/DSS-induced mice. 31122284 2019
CUI: C0039538
Disease: Teratoma
Teratoma
0.010 GeneticVariation disease BEFREE Two sisters phenotypically normal females, presenting with tumor abdominal mass with histopathological findings of teratoma and gonadoblastoma associated to 46,XY male-to-female sex reversal syndrome, secondary to a duplication in DAX-1, possibly inherited of maternal gonadal mosaicism. 30879272 2019
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes
0.010 GeneticVariation phenotype BEFREE Rates of gestational diabetes mellitus (GDM) (P = 0.007) and female neonates (P = 0.001) were significantly higher in the LHG group compared with the HHG group; no significant differences were observed in the low versus high HCG group overall. 30660603 2019
CUI: C0151467
Disease: Addisonian crisis
Addisonian crisis
0.010 GeneticVariation disease BEFREE Background X-linked adrenal hypoplasia congenita (AHC), due to mutations in the nuclear receptor superfamily 0, group B, member 1 (NR0B1)/dosage-sensitive sex reversal, AHC, critical region on the X chromosome, gene 1 (DAX1) gene, usually presents with a salt-wasting adrenal crisis in infancy and hypogonadotropic hypogonadism (HH) in adolescents. 31219797 2019
CUI: C0206661
Disease: Gonadoblastoma
Gonadoblastoma
0.010 GeneticVariation disease BEFREE Two sisters phenotypically normal females, presenting with tumor abdominal mass with histopathological findings of teratoma and gonadoblastoma associated to 46,XY male-to-female sex reversal syndrome, secondary to a duplication in DAX-1, possibly inherited of maternal gonadal mosaicism. 30879272 2019
Differentiated Thyroid Gland Carcinoma
0.010 Biomarker disease BEFREE Although extent of thyroidectomy does not affect DSS, total thyroidectomy is beneficial for reducing recurrence in patients with 1-cm to 4-cm DTC. 30536465 2019
CUI: C1368898
Disease: Adult Teratoma
Adult Teratoma
0.010 GeneticVariation disease BEFREE Two sisters phenotypically normal females, presenting with tumor abdominal mass with histopathological findings of teratoma and gonadoblastoma associated to 46,XY male-to-female sex reversal syndrome, secondary to a duplication in DAX-1, possibly inherited of maternal gonadal mosaicism. 30879272 2019
CUI: C2347762
Disease: Childhood Teratoma
Childhood Teratoma
0.010 GeneticVariation disease BEFREE Two sisters phenotypically normal females, presenting with tumor abdominal mass with histopathological findings of teratoma and gonadoblastoma associated to 46,XY male-to-female sex reversal syndrome, secondary to a duplication in DAX-1, possibly inherited of maternal gonadal mosaicism. 30879272 2019
CUI: C2919828
Disease: Chronic ulcerative colitis
Chronic ulcerative colitis
0.010 Biomarker disease BEFREE To investigate whether ATX-LPA axis contributes to Th17 cell differentiation, a mouse model of chronic UC was established by drinking water with DSS at intervals. 31102124 2019
CUI: C3544347
Disease: Intestinal fibrosis
Intestinal fibrosis
0.010 Biomarker phenotype BEFREE We demonstrate reduced intestinal fibrosis in mice deficient for the CH25H enzyme, using the sodium dextran sulphate [DSS]-induced chronic colitis model. 31220227 2019
Primary differentiated carcinoma of thyroid gland
0.010 Biomarker disease BEFREE Although extent of thyroidectomy does not affect DSS, total thyroidectomy is beneficial for reducing recurrence in patients with 1-cm to 4-cm DTC. 30536465 2019
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix
0.010 AlteredExpression disease BEFREE DAX1 expressed a gradual increase from normal cervix to high-grade squamous intraepithelial lesions, and consequently to cervical cancer. 29497051 2018
CUI: C0017178
Disease: Gastrointestinal Diseases
Gastrointestinal Diseases
0.010 Biomarker group BEFREE <b>Methods:</b> Two established models of experimental colitis, namely chemically-induced DSS colitis and the spontaneous colitis that develops in <i>Muc2</i> deficient mice, were used to assess whether QBECO treatment could ameliorate gastrointestinal disease. 30319652 2018
CUI: C0021841
Disease: Intestinal Neoplasms
Intestinal Neoplasms
0.010 Biomarker group BEFREE Application of the AOM-DSS protocol for induction of colitis-associated CRC resulted in increased intestinal tumor load in male but not in female STAT1<sup>∆IEC</sup> mice. 29419930 2018
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders
0.010 Biomarker group BEFREE Besides their central role in physiology, NRs have been largely used as therapeutic drug targets in many chronic inflammatory conditions and derivatives of their specific ligands, alone or in combination, are frequently prescribed for the treatment of skin diseases. 29966221 2018
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas
0.010 Biomarker group BEFREE It also downregulated the expression of NF-κB-related proteins, including the B-cell lymphoma 2 (Bcl-2) family and inhibitors of apoptosis proteins (IAPs), in mice with AOM/DSS-induced CAC. 29439531 2018
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.010 Biomarker phenotype BEFREE Electronic databases (up to June 7, 2018) were comprehensively searched to collect relevant cohort studies regarding the associations between NNMT expression levels and survival outcomes (overall survival [OS], disease-specific survival [DSS] including cancer-specific survival [CSS], and time to tumor progression [TTP] including disease-free survival [DFS], progression-free survival [PFS], and metastasis-free survival [MeFS]).Publication biases were also examined. 30349486 2018
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.010 Biomarker disease BEFREE Patients ≥ 60 years of age have worse DSS and DFS after a diagnosis of PTC, across all stages of disease. 29566662 2018
CUI: C0267375
Disease: Chronic colitis
Chronic colitis
0.010 Biomarker disease BEFREE For the initiation of fibrosis in vivo, spontaneous colitis by Il10-/-, dextran sodium sulfate [DSS]-induced chronic colitis and the heterotopic intestinal transplantation model were used. 30165600 2018
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
0.010 AlteredExpression disease BEFREE DAX1 expressed a gradual increase from normal cervix to high-grade squamous intraepithelial lesions, and consequently to cervical cancer. 29497051 2018