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: C0007095
Disease: Carcinoid Tumor
Carcinoid Tumor
0.030 Biomarker phenotype BEFREE INSM1 was positive in 305 of 402 tumors with expected neuroendocrine differentiation (typical and atypical carcinoids, large cell neuroendocrine carcinomas, small cell lung cancers, and paraganglioma; sensitivity: 76%). 30358615 2020
CUI: C0007095
Disease: Carcinoid Tumor
Carcinoid Tumor
0.030 Biomarker phenotype BEFREE INSM1 was positive in 48 of 52 primary lung neuroendocrine neoplasms (92%), including 38 of 41 SCLCs (93%), the only LCNEC (100%), and 9 of 10 carcinoid tumors (90%), and it was negative in all 22 non-neuroendocrine primary lung tumors. 29360191 2018
CUI: C0007095
Disease: Carcinoid Tumor
Carcinoid Tumor
0.030 Biomarker phenotype BEFREE INSM1 also stained all (100%) of the atypical carcinoids, typical carcinoids and mediastinal paragangliomas, but only 3.3% of adenocarcinomas and 4.2% of squamous cell carcinomas. 28719469 2017