SOX9, SRY-box transcription factor 9, 6662

N. diseases: 466; N. variants: 25
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.070 AlteredExpression disease BEFREE TIPE1 overexpression significantly inhibits colon cancer cell growth both in vitro and in vivo through impairing stemness, accompanied with downregulation of the stemness-related markers, ALDH, CD133, CD44, and SOX-9. 31111874 2020
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.060 AlteredExpression disease BEFREE TIPE1 overexpression significantly inhibits colon cancer cell growth both in vitro and in vivo through impairing stemness, accompanied with downregulation of the stemness-related markers, ALDH, CD133, CD44, and SOX-9. 31111874 2020
Squamous cell carcinoma of esophagus
0.060 AlteredExpression disease BEFREE Here, we independently confirmed the increased SOX9 expression in two ESCC cohorts and its correlation with poor prognosis. 31600529 2020
CUI: C4048328
Disease: cervical cancer
cervical cancer
0.050 GeneticVariation disease BEFREE Analyses performed under logistic model, linear mixed model, and model incorporating correlations identified nine significant associations with three gynecologic diseases including four novel findings (rs79219469:C > T, LINC02183, P = 3.3 × 10<sup>-8</sup> and rs567534295:C > T, BRCA1, P = 3.1 × 10<sup>-8</sup> with OC, rs150806792:C > T, INS-IGF2, P = 4.9 × 10<sup>-8</sup> and rs140991990:A > G, SOX9, P = 3.3 × 10<sup>-8</sup> with UCC). 31488892 2020
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute
0.040 AlteredExpression disease BEFREE Furthermore, mice deficient in Paneth cells (SOX9 Villin Cre mice) have reduced plasma norepinephrine levels after ischemic AKI. 31813250 2020
CUI: C0028259
Disease: Nodule
Nodule
0.030 AlteredExpression phenotype BEFREE Increase in dsDNA content (p < 0.0005), up-regulation of RUNX2, ALPL, SPP1 (p < 0.0005) and SOX9 (p < 0.005) gene expression, and more calcium nodule formation (p < 0.0005) were observed in d3D cultures in comparison to s3D ones over time. 31506241 2020
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms
0.020 Biomarker group BEFREE Deregulation of SOX9 in esophageal cancer has been reported. 31600529 2020
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
0.020 Biomarker disease BEFREE Deregulation of SOX9 in esophageal cancer has been reported. 31600529 2020
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus
0.020 Biomarker disease BEFREE Deregulation of SOX9 in esophageal cancer has been reported. 31600529 2020
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
0.010 AlteredExpression disease BEFREE Sox9 transcription factor, however, was significantly downregulated in the uPA-deficient/DSS-treated mice that developed colon adenomas as compared to the wild-type/DSS-treated group with no neoplasia identified. 31758376 2020
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.010 AlteredExpression disease BEFREE Increasing expression of SOX9 decreased adipogenic potential of AML-MSCs and decreased their ability to support AML progenitor cells. 31492897 2020
CUI: C0029458
Disease: Osteoporosis, Postmenopausal
Osteoporosis, Postmenopausal
0.010 GeneticVariation disease BEFREE SNP rs73354570 of SOX9 was significantly associated with PMOP in both discovery stages (OR 1.24 [1.10-1.39], P = 3.56 × 10<sup>-4</sup>, χ<sup>2</sup> = 12.75) and combined samples (OR 1.25 [1.15-1.37], P = 5.25 × 10<sup>-7</sup>, χ<sup>2</sup> = 25.17). 31732751 2020
CUI: C1848296
Disease: DOSAGE-SENSITIVE SEX REVERSAL
DOSAGE-SENSITIVE SEX REVERSAL
0.010 AlteredExpression disease BEFREE Sox9 transcription factor, however, was significantly downregulated in the uPA-deficient/DSS-treated mice that developed colon adenomas as compared to the wild-type/DSS-treated group with no neoplasia identified. 31758376 2020
Necrotizing enterocolitis in fetus OR newborn
0.010 Biomarker disease BEFREE Organoid growth rate was significantly lower in NEC liver organoids compared to control liver organoids. mRNA expression of liver progenitor cells markers of LGR5 and SOX9 was lower in NEC liver organoids compared to control liver organoids. 31365937 2020
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA
1.000 Biomarker disease GENOMICS_ENGLAND Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. 30712880 2019
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA
1.000 Biomarker disease BEFREE The data identify a novel molecular mechanism of disease in CD in which the truncated protein leads to a distinct and more significant effect on SOX9 function. 31389106 2019
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome
0.700 Biomarker disease GENOMICS_ENGLAND Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. 30712880 2019
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 AlteredExpression disease BEFREE In addition, SOX9 was identified as a transcription factor of FOXA1 in lung cancer and involved in affecting the expression of FOXA1 targeted genes-Bcl2, CDKN1B, RPRM and NKX2. 31221478 2019
Ovotesticular Disorders of Sex Development
0.350 GeneticVariation disease BEFREE A duplication upstream of SOX9 associated with SRY negative 46,XX ovotesticular disorder of sex development: A case report 31476840 2019
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis
0.130 AlteredExpression disease BEFREE We have shown a decreased SOX9-Phospho protein expression in the dysgenetic gonads of the patients with homozygous PPP2R3C variants suggesting impaired SOX9 signaling in the pathogenesis of gonadal dysgenesis. 30893644 2019
CUI: C0848558
Disease: Hypospadias
Hypospadias
0.120 Biomarker disease BEFREE In conclusion, SOX9, which was regulated by both miR-145 and miR-145/MAPK signaling, could be involved in the pathogenesis of hypospadias. 30565690 2019
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.110 Biomarker disease BEFREE To study the SOX9 mutation in CVM patients is of great significance to explain the pathogenesis of scoliosis (the clinical manifestation of CVM) and to explore the pathogenesis of SOX9-related skeletal deformities. 31549955 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE IMPLICATIONS: SOX9/FXYD3/Src axis is critical for promoting CSC function and tamoxifen resistance in ER<sup>+</sup> breast cancer. 30206184 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE miR-190 increased the anti-estrogen sensitivity of breast cancer cells both in vitro and in vivo. miR-190 inhibited Wnt/β-catenin signaling by targeting SOX9, and its expression inversely correlated with that of SOX9 in breast cancer samples. 30658681 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 AlteredExpression disease BEFREE For clinical relevance, high SOX9 and HDAC5 expression are associated with lower survival rates in breast cancer patients treated with tamoxifen. 31690832 2019