Preferred Label : POMC wt Allele;
NCIt synonyms : CLIP; NPP; MSH; POC; Proopiomelanocortin (Adrenocorticotropin/ Beta-Lipotropin/ Alpha-Melanocyte Stimulating
Hormone/ Beta-Melanocyte Stimulating Hormone/ Beta-Endorphin) wt Allele; ACTH; LPH;
NCIt definition : Human POMC wild-type allele is located in the vicinity of 2p23.3 and is approximately
8 kb in length. This allele, which encodes pro-opiomelanocortin protein, plays a role
in the modulation of steroid production, pain response, energy homeostasis, melanin
production and immune responses. Mutations in this gene have been associated with
early onset obesity, adrenal insufficiency, and red hair pigmentation.;
NCIt note : The POMC gene product is a precursor for at least 10 biologically active peptides
including; ACTH, melanocyte stimulating hormone, Beta-endorphin and Met-enkephalin
and several distinct melanotropins, lipotropins, and endorphins. (Entrez Gene);
GenBank Accession Number : NM_000939;
Origin ID : C52424;
UMLS CUI : C1704793;
Currated CISMeF NLP mapping
- ACTH [ICD-11 Extension code]
- False automatic mappings
- OMIM relation
- Semantic type(s)
- Validated automatic mappings to BTNT
- concept_is_in_subset
- gene_associated_with_disease
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_is_element_in_pathway
- gene_plays_role_in_process
https://www.has-sante.fr/jcms/p_3477876/fr/mitraclip-g4-nt
2023
France
health technology assessment
CLIP1 wt Allele
mitral valve annuloplasty
POMC wt Allele
Clip Device
NT5E wt Allele
along edge
Cross-Linking and Immunoprecipitation
Neurotensin
Mitral Valve Repair
Tyrosine Nitration
NTS wt Allele
Nuchal Translucency Screen
---
https://www.has-sante.fr/jcms/p_3477886/fr/mitraclip-g4-ntw
2023
France
health technology assessment
along edge
CLIP1 wt Allele
Cross-Linking and Immunoprecipitation
mitral valve annuloplasty
POMC wt Allele
Mitral Valve Repair
Clip Device
---
https://www.has-sante.fr/jcms/p_3477879/fr/mitraclip-g4-xt
2023
France
health technology assessment
Mitral Valve Repair
POMC wt Allele
CLIP1 wt Allele
Cross-Linking and Immunoprecipitation
along edge
mitral valve annuloplasty
Tromelin Island
Clip Device
---
