Terminology Service < Semantic Lookup Platform

All terms in NCIT

Label	Id	Description
Unfolded Protein Response	NCIT_C118900	[A cellular stress response process that is activated by the accumulation of unfolded or misfolded proteins in the cell.]
Myeloid Neoplasms with Germline ETV6 Mutation	NCIT_C151911	[Autosomal dominant familial thrombocytopenia associated with germline ETV6 mutation and hematologic malignancies. The hematologic malignancies reported are diverse, including myelodysplastic syndrome, acute myeloid leukemia, chronic myelomonocytic leukemia, B lymphoblastic leukemia, and plasma cell myeloma. Non-hematological neoplasms, including colorectal adenocarcinoma, have been also reported in affected families. (WHO 2017)]
Myeloid Neoplasms with Germline Predisposition and Preexisting Platelet Disorders	NCIT_C151902	[Myeloid neoplasms associated with germline mutations and familial platelet disorders.]
Myeloid Neoplasms with Germline GATA2 Mutation	NCIT_C151912	[Myelodysplastic syndromes/acute myeloid leukemias associated with germline GATA2 mutation.]
DDX41 Gene	NCIT_C151913	[This gene may play a role in RNA splicing and tumor suppression.]
Myeloid Neoplasms with Germline DDX41 Mutation	NCIT_C151901	[An autosomal dominant familial myelodysplastic syndrome/acute myeloid leukemia syndrome characterized by inherited mutations in the gene on chromosome 5 encoding the DEAD box RNA helicase DDX41. Patients usually present with leukopenia, hypocellular bone marrow with prominent erythroid dysplasia and a normal karyotype, often leading to erythroleukemia. The prognosis is generally poor. (WHO 2017)]
DDX41 wt Allele	NCIT_C151914	[Human DDX41 wild-type allele is located in the vicinity of 5q35.3 and is approximately 6 kb in length. This allele, which encodes probable ATP-dependent RNA helicase DDX41 protein, may be involved in the functionality of the spliceosome. Heterozygous mutation of the gene may be associated with susceptibility to multiple types of familial myeloproliferative and lymphoproliferative neoplasms.]
5q35.3	NCIT_C29966	[A chromosome band present on 5q]
CYP26A1 wt Allele	NCIT_C126984	[Human CYP26A1 wild-type allele is located within 10q23-q24 and is approximately 4 kb in length. This allele, which encodes cytochrome P450 26A1 protein, plays a role in the metabolism of retinoids.]
CYP26A1 Gene	NCIT_C126983	[This gene is involved in retinoic acid metabolism.]
Retinol Metabolism Pathway	NCIT_C38861
Lipid Metabolism and Toxicity Pathway	NCIT_C39174
10q23-q24	NCIT_C26557	[A chromosome band present on 10q]
Cytochrome P450 26A1	NCIT_C126985	[Cytochrome P450 26A1 (497 aa, ~56 kDa) is encoded by the human CYP26A1 gene. This protein is involved in the hydroxylation of retinoic acid.]
Cytochrome P450	NCIT_C16484	[A family of cytochromes that are involved in electron transport and oxidative metabolism of drugs and other bioactive molecules. When the catalytic heme is reduced the absorbance peak for this protein occurs at 450 nm.]
DNAJA1 wt Allele	NCIT_C126987	[Human DNAJA1 wild-type allele is located in the vicinity of 9p13.3 and is approximately 15 kb in length. This allele, which encodes DnaJ homolog subfamily A member 1 protein, is involved in both protein folding and protein trafficking.]
CDK9 Gene	NCIT_C126980	[This gene plays a role in cyclin-dependent phosphorylation of protein substrates.]
Cyclin-Dependent Kinase Gene	NCIT_C25839	[Cyclin-Dependent Kinase Genes encode Cyclin-Dependent Kinases, eukaryotic phosphoregulated protein kinases that physically associate with cyclins to achieve full enzymatic activity and control cell cycle progression. (NCI)]
Telomere Maintenance Gene Mutation	NCIT_C151919	[A change in the nucleotide sequence of a gene involved in telomere synthesis and maintenance.]
Gene Abnormality	NCIT_C36327	[A variation in or modification of the nucleic acid sequence of a gene that can alter its expression and may result in either a congenital disorder or the clinical presentation of a disease.]