SMNDC1

survival motor neuron domain containing 1

Details

HGNC: HGNC:16900
GeneCards: SMNDC1
NCBI: 10285
Ensembl: ENSG00000119953
UniProt: O75940
OMIM: 603519
UCSC: uc001kzc.5
VEGA: OTTHUMG00000019036
ENA: AF083385
Alias Symbols: SPF30, SMNR, TDRD16C
Previous Symbols: None
Alias Names: "splicing factor 30, survival of motor neuron-related", "tudor domain containing 16C"
Previous Names: None

Associated Studies

Multifaceted evolution focused on maximal exploitation of domain knowledge for the consensus inference of Gene Regulatory Networks

2025 | Segura-Ortiz, Adrián; Giménez-Orenga, Karen; García-Nieto, José; Oltra, Elisa; Aldana-Montes, José F.

Associated cohorts
Phenotype: ME/CFS, ME/CFS - CCC criteria, ME/CFS - ICC Criteria, Post-exertional malaise (PEM)
Phenotype: Fibromyalgia, Fibromyalgia - 1990 ACR (American College of Rheumatology) criteria, Fibromyalgia - 2011 ACR (American College of Rheumatology) criteria

HERV activation segregates ME/CFS from fibromyalgia while defining a novel nosologic entity

2025 | Giménez-Orenga, Karen; Martín-Martínez, Eva; Nathanson, Lubov; Oltra, Elisa

Associated cohorts
Phenotype: ME/CFS, ME/CFS - CCC criteria, ME/CFS - ICC Criteria, Post-exertional malaise (PEM)
Phenotype: Fibromyalgia, Fibromyalgia - 1990 ACR (American College of Rheumatology) criteria, Fibromyalgia - 2011 ACR (American College of Rheumatology) criteria
Phenotype: Fibromyalgia, Fibromyalgia - 1990 ACR (American College of Rheumatology) criteria, Fibromyalgia - 2011 ACR (American College of Rheumatology) criteria, ME/CFS, ME/CFS - CCC criteria, ME/CFS - ICC Criteria, Post-exertional malaise (PEM)