ITM2A, integral membrane protein 2A, 9452

N. diseases: 17; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 AlteredExpression group BEFREE Kaplan-Meier analysis indicated that patients presenting with reduced ITM2A expression exhibited poor overall survival, and expression significantly correlated with age, progesterone receptor status, TNM classification and tumor stage. 31438969 2019
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.020 AlteredExpression disease BEFREE Moreover, ITM2A expression was significantly decreased in PBMCs from untreated GD patients than that from controls. 27809695 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 Biomarker group BEFREE ITM2A loss occurred in 45.6% (41 of 90) of invasive carcinomas and was significantly associated with FIGO stage, type II tumors, suboptimal debulking operation, recurrence and chemoresistance. 26691219 2016
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.020 GeneticVariation disease BEFREE In this study, we carried out a three-stage study in 9529 patients with GD and 9984 controls to identify new risk loci for GD and found genome-wide significant associations in the overall populations for five novel susceptibility loci: the GPR174-ITM2A at Xq21.1, C1QTNF6-RAC2 at 22q12.3-13.1, SLAMF6 at 1q23.2, ABO at 9q34.2 and an intergenic region harboring two non-coding RNAs at 14q32.2 and one previous indefinite locus, TG at 8q24.22 (Pcombined < 5 × 10(-8)). 23612905 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 Biomarker disease BEFREE MTT assay, EdU incorporation assay and colony formation assay were used to evaluated the role of ITM2A on breast cancer cell proliferation. 31438969 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 Biomarker disease BEFREE MTT assay, EdU incorporation assay and colony formation assay were used to evaluated the role of ITM2A on breast cancer cell proliferation. 31438969 2019
CUI: C1512981
Disease: Mammary Tumorigenesis
Mammary Tumorigenesis
0.010 Biomarker phenotype BEFREE Moreover, we found that ITM2A was phosphorylated at T35 by HUNK, a serine/threonine kinase significantly correlated with human breast cancer overall survival and HER2-induced mammary tumorigenesis. 31438969 2019
CUI: C0004623
Disease: Bacterial Infections
Bacterial Infections
0.010 GeneticVariation group BEFREE The results suggest that ITM2A might be a susceptibility gene for GD in the Xq21.1 locus, and environmental factors, such as viral and bacterial infections, probably contribute to GD pathogenesis by interacting with the risk SNP rs3827440 mediating the regulation of ITM2A expression. 27809695 2017
Familial Partial Lipodystrophy, Type 2
0.010 Biomarker disease BEFREE This suggests that targeting of Itm2a or its related pathways, including autophagy, may have potential as a therapy for FPLD2. 28872940 2017
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.010 Biomarker group BEFREE ITM2A loss occurred in 45.6% (41 of 90) of invasive carcinomas and was significantly associated with FIGO stage, type II tumors, suboptimal debulking operation, recurrence and chemoresistance. 26691219 2016
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.010 Biomarker disease BEFREE Loss of ITM2A, a novel tumor suppressor of ovarian cancer through G2/M cell cycle arrest, is a poor prognostic factor of epithelial ovarian cancer. 26691219 2016
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.010 Biomarker disease BEFREE ITM2A is a new biomarker of poor prognosis in ovarian cancer. 26691219 2016
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.010 Biomarker disease BEFREE ITM2A is a new biomarker of poor prognosis in ovarian cancer. 26691219 2016
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.010 Biomarker disease BEFREE ITM2A is a new biomarker of poor prognosis in ovarian cancer. 26691219 2016
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.010 GeneticVariation disease BEFREE This maternally inherited 5.8 Mb rearrangement encompasses 14 genes, including BRWD3 (involved in X-linked intellectual disability), TBX22 (a gene whose alterations have been related to the presence of cleft palate), POU3F4 (mutated in X-linked deafness) and ITM2A (a gene involved in cartilage development). 26323392 2015
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
0.010 GeneticVariation disease BEFREE This maternally inherited 5.8 Mb rearrangement encompasses 14 genes, including BRWD3 (involved in X-linked intellectual disability), TBX22 (a gene whose alterations have been related to the presence of cleft palate), POU3F4 (mutated in X-linked deafness) and ITM2A (a gene involved in cartilage development). 26323392 2015
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
0.010 GeneticVariation disease BEFREE This maternally inherited 5.8 Mb rearrangement encompasses 14 genes, including BRWD3 (involved in X-linked intellectual disability), TBX22 (a gene whose alterations have been related to the presence of cleft palate), POU3F4 (mutated in X-linked deafness) and ITM2A (a gene involved in cartilage development). 26323392 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.010 GeneticVariation group BEFREE This maternally inherited 5.8 Mb rearrangement encompasses 14 genes, including BRWD3 (involved in X-linked intellectual disability), TBX22 (a gene whose alterations have been related to the presence of cleft palate), POU3F4 (mutated in X-linked deafness) and ITM2A (a gene involved in cartilage development). 26323392 2015
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.010 AlteredExpression disease BEFREE Among newly identified candidate molecules, H19, IGF2, and ITM2A were significantly elevated in OA compared to normal cartilage. 22527881 2012