INSM1, INSM transcriptional repressor 1, 3642

N. diseases: 85; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		0.010 AlteredExpression disease BEFREE INSM1 was diffusely expressed in 60% of gynecologic tumors, 71.4% of mammary carcinoma, and 25% of prostate adenocarcinoma with NE differentiation. 30523500 2019
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 Biomarker disease BEFREE All cases of non-small cell lung carcinoma were negative for INSM1 (100% specificity). 31343851 2019
CUI: C0017075
Disease: Ganglioneuroma
Ganglioneuroma 		0.010 AlteredExpression disease BEFREE INSM1 showed nuclear expression in 39/50 (78%) peripheral neuroblastic tumors, including 27/32 (84%) neuroblastomas, 9/9 (100%) ganglioneuroblastomas, and 3/9 (33%) ganglioneuromas. 30975032 2019
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma 		0.010 AlteredExpression disease BEFREE Although no non-neuroblastic tumors in this study exhibited INSM1 expression in more than 20% of nuclei, focal or patchy staining was identified in 7/14 (50%) rhabdomyosarcomas, 7/22 (32%) nephroblastomas, and 4/20 (20%) Ewing sarcomas. 30975032 2019
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 Biomarker phenotype BEFREE However, comprehension of the molecular mechanism of INSM1-mediated tumor progression remains poor. 31155641 2019
CUI: C0206718
Disease: Ganglioneuroblastoma
Ganglioneuroblastoma 		0.010 AlteredExpression disease BEFREE INSM1 showed nuclear expression in 39/50 (78%) peripheral neuroblastic tumors, including 27/32 (84%) neuroblastomas, 9/9 (100%) ganglioneuroblastomas, and 3/9 (33%) ganglioneuromas. 30975032 2019
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		0.010 AlteredExpression phenotype BEFREE Histopathological re-examination of a recurrent tumor revealed poorly differentiated carcinoma with insulinoma-associated protein 1 (INSM1) expression, which remained ALK-positive. 30900377 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 AlteredExpression disease BEFREE INSM1 was diffusely expressed in 60% of gynecologic tumors, 71.4% of mammary carcinoma, and 25% of prostate adenocarcinoma with NE differentiation. 30523500 2019
CUI: C0741899
Disease: Poorly differentiated carcinoma
Poorly differentiated carcinoma 		0.010 AlteredExpression phenotype BEFREE Histopathological re-examination of a recurrent tumor revealed poorly differentiated carcinoma with insulinoma-associated protein 1 (INSM1) expression, which remained ALK-positive. 30900377 2019
CUI: C1334953
Disease: Neuroblastic tumors
Neuroblastic tumors 		0.010 AlteredExpression disease BEFREE The absence of INSM1 expression in peripheral neuroblastic tumors was restricted to undifferentiated and poorly differentiated neuroblastomas, as well as mature ganglioneuromas, mimicking the transient INSM1 expression seen in sympatho-adrenal differentiation during normal development. 30975032 2019
CUI: C1335302
Disease: Pancreatic Ductal Adenocarcinoma
Pancreatic Ductal Adenocarcinoma 		0.010 AlteredExpression disease BEFREE As a control for INSM1 and Ki-67 expression, we used cytological specimens from 15 cases of pancreatic ductal adenocarcinoma. 30290028 2019
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.010 Biomarker disease BEFREE Taken together, these results indicate that INSM1 modulates nasopharyngeal carcinoma to radiotherapy by controlling cyclin D1-dependent DNA repair machinery that could be manipulated as a novel molecular target for NPC therapy. 31155641 2019
CUI: C2986656
Disease: Non-Functioning Endocrine Neoplasm
Non-Functioning Endocrine Neoplasm 		0.010 AlteredExpression disease BEFREE These data demonstrate that expression of Insm1 can determine whether a PanNET is a localized insulinoma or a metastatic nonfunctioning tumor. 30796198 2019
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		0.010 Biomarker disease BEFREE Twenty-eight of the 31 extraskeletal myxoid chondrosarcomas (90%) were positive for INSM1, providing strong evidence for neuroendocrine differentiation. 29327709 2018
CUI: C0008487
Disease: Chordoma
Chordoma 		0.010 Biomarker disease BEFREE INSM1-positive mimics comprised a small subset of chordoma (1 of 10), soft tissue myoepithelioma (1 of 20), ossifying fibromyxoid tumor (3 of 10), and Ewing sarcoma (3 of 10), among other tumor types. 29327709 2018
CUI: C0011847
Disease: Diabetes
Diabetes 		0.010 AlteredExpression disease BEFREE Insm1 levels are therefore a factor that can influence the development of diabetes. 30257979 2018
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 AlteredExpression group BEFREE Insm1 levels are therefore a factor that can influence the development of diabetes. 30257979 2018
CUI: C0027070
Disease: Myoepithelioma
Myoepithelioma 		0.010 Biomarker disease BEFREE INSM1-positive mimics comprised a small subset of chordoma (1 of 10), soft tissue myoepithelioma (1 of 20), ossifying fibromyxoid tumor (3 of 10), and Ewing sarcoma (3 of 10), among other tumor types. 29327709 2018
CUI: C0027533
Disease: Neck Neoplasms
Neck Neoplasms 		0.010 Biomarker group BEFREE INSM1 is a Sensitive and Specific Marker of Neuroendocrine Differentiation in Head and Neck Tumors. 29438167 2018
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		0.010 Biomarker disease BEFREE INSM1 also was negative in almost all non-NE tumors (97.6% specificity) with the highest rates of reactivity in alveolar rhabdomyosarcoma and SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily B, member 1 (SMARCB1)-deficient sinonasal carcinoma. 29438167 2018
CUI: C0206685
Disease: Acinar Cell Carcinoma
Acinar Cell Carcinoma 		0.010 Biomarker disease BEFREE INSM1 was also stained all of the mixed SCC-acinar adenocarcinomas and metastatic SCCs progression from acinar adenocarcinoma. 29885405 2018
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		0.010 Biomarker disease BEFREE INSM1 was positive in all types of head and neck NE tumors evaluated here (99.0% sensitivity), including middle ear adenoma, pituitary adenoma, paraganglioma, medullary thyroid carcinoma, olfactory neuroblastoma, small cell carcinoma, large cell NE carcinoma, and sinonasal teratocarcinosarcoma. 29438167 2018
CUI: C0242363
Disease: Islet Cell Tumor
Islet Cell Tumor 		0.010 Biomarker disease BEFREE Our results suggest that INSM1 is a useful immunohistochemical marker for diagnosing pancreatic neuroendocrine tumor. 28849340 2018
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma 		0.010 Biomarker disease BEFREE INSM1 also was negative in almost all non-NE tumors (97.6% specificity) with the highest rates of reactivity in alveolar rhabdomyosarcoma and SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily B, member 1 (SMARCB1)-deficient sinonasal carcinoma. 29438167 2018
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm 		0.010 AlteredExpression phenotype BEFREE Hence, we examined the expression pattern of INSM1 in pancreatic solid tumors. 28849340 2018