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CD40 and autism spectrum disorder are reported together in 4 articles.
Gene
CD40
- HGNC
- HGNC:11919
24articles
24mentions
2variants with confirmed gene link
Most co-reported phenotypes (articles)
autism spectrum disorder 4neurodevelopmental disorder 3rheumatoid arthritis 3leukemia 2pre-eclampsia 2recurrent pregnancy loss 2Down syndrome 1Klinefelter syndrome 1
Reported variants (articles · ClinVar status)
Phenotype
Autism spectrum disorder
- HPO
- HP:0000729
881articles
881mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
4 records shown · first 60A potent and selective CXCR2 antagonist improves neuroimmune dysregulation through the inhibition of NF-κB and notch inflammatory signaling in the BTBR mouse model of autism.
PMID 36931207 | DOI 10.1016/j.jneuroim.2023.578069 · Journal of neuroimmunology · 2023 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CD40 | “In this study, we investigated the effects of SB332235 administration on NF-κB-, Notch-1-, Notch-3-, GM-CSF-, MCP-1-, IL-6-, and IL-2- and TGF-β1-expressing CD40+ cells in BTBR and C57BL/6 (C57) mice in the spleen cells by flow cytometry.” | 0.98 | hgnc_dict_v1 |
| phenotype | autism spectrum disorder | “A potent and selective CXCR2 antagonist improves neuroimmune dysregulation through the inhibition of NF-κB and notch inflammatory signaling in the BTBR mouse model of autism.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | CXCR2 | “A potent and selective CXCR2 antagonist improves neuroimmune dysregulation through the inhibition of NF-κB and notch inflammatory signaling in the BTBR mouse model of autism.” | 0.98 | hgnc_dict_v1 |
| phenotype | neurodevelopmental disorder | “Autism comprises a broad range of neurodevelopmental disorders characterized by social communication deficits and repetitive and stereotyped behaviors.” | 0.93 | phenotype_alias_lexicon_v2 |
Upregulation of Inflammatory Mediators in Peripheral Blood CD40+ Cells in Children with Autism Spectrum Disorder.
PMID 37108638 | PMCID PMC10138695 | DOI 10.3390/ijms24087475 · International journal of molecular sciences · 2023 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CD40 | “Upregulation of Inflammatory Mediators in Peripheral Blood CD40+ Cells in Children with Autism Spectrum Disorder.” | 0.98 | hgnc_dict_v1 |
| phenotype | autism spectrum disorder | “Upregulation of Inflammatory Mediators in Peripheral Blood CD40+ Cells in Children with Autism Spectrum Disorder.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | CCR1 | “C-C chemokine receptor type 1 (CCR1) activation is pro-inflammatory in several neurological disorders.” | 0.98 | hgnc_dict_v1 |
| phenotype | neurodevelopmental disorder | “Autism spectrum disorder (ASD) is a common and severe neurodevelopmental disorder in early childhood, defined as social and communication deficits and repetitive and stereotypic behaviours.” | 0.98 | phenotype_alias_lexicon_v2 |
Methylmercury chloride exposure aggravates proinflammatory mediators and Notch-1 signaling in CD14+ and CD40+ cells and is associated with imbalance of neuroimmune function in BTBR T+ Itpr3tf/J mice.
PMID 33166615 | DOI 10.1016/j.neuro.2020.10.014 · Neurotoxicology · 2021 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CD40 | “Methylmercury chloride exposure aggravates proinflammatory mediators and Notch-1 signaling in CD14+ and CD40+ cells and is associated with imbalance of neuroimmune function in BTBR T+ Itpr3tf/J mice.” | 0.98 | hgnc_dict_v1 |
| phenotype | autism spectrum disorder | “Autism spectrum disorder (ASD) is a severe neurodevelopmental disorder characterized by deficits in social interaction, communication, and repetitive behaviors.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | CD14 | “Methylmercury chloride exposure aggravates proinflammatory mediators and Notch-1 signaling in CD14+ and CD40+ cells and is associated with imbalance of neuroimmune function in BTBR T+ Itpr3tf/J mice.” | 0.98 | hgnc_dict_v1 |
| phenotype | neurodevelopmental disorder | “Autism spectrum disorder (ASD) is a severe neurodevelopmental disorder characterized by deficits in social interaction, communication, and repetitive behaviors.” | 0.98 | phenotype_alias_lexicon_v2 |
Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015.
PMID 27454254 | PMCID PMC4959372 | DOI 10.1186/s12864-016-2858-0 · BMC genomics · 2016 · 46 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CD40 | “Azhar, Sameera Al-basri, Elie Barbour, Taha Kumosani P105 Exploration of anticancer targets of selected metabolites of Phoenix dactylifera L. using systems biological approaches Fazal Khan, Gauthaman Kalamegam, Peter Natesan Pushparaj, Adel Abuzenada, Taha Abduallah Kumosani, Elie Barbour P106 CD226 and CD40 gene polymorphism in susceptibility to Juvenile rheumatoid arthritis in Egyptian patients Heba M.” | 0.98 | hgnc_dict_v1 |
| phenotype | autism spectrum disorder | “Abu Zenadah, Abdelbaset Buhmeida, Mourad Assidi, Muhammed Al Qahtani P62 Autism Spectrum Disorder: knowledge, attitude and awareness in Jeddah, Kingdom of Saudi Arabia Muhammad Faheem, Shilu Mathew, Shiny Mathew, Peter Natesan Pushparaj, Mohammad H.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | KIF2A | “Shay O2 The microtubule destabilizer KIF2A regulates the postnatal establishment of neuronal circuits in addition to prenatal cell survival, cell migration, and axon elongation, and its loss leading to malformation of cortical development and severe epilepsy Noriko Homma, Ruyun Zhou, Muhammad Imran Naseer, Adeel G.” | 0.98 | hgnc_dict_v1 |
| gene | RPL27A | “Saini, Awatif Jamal, Jaudah Al-Maghrabi, Adel Abuzenadah, Adeel Chaudhary, Mohammed Al Qahtani, Ghazi Damanhouri O5 RPL27A is a target of miR-595 and deficiency contributes to ribosomal dysgenesis Heba Alkhatabi O6 Next generation DNA sequencing panels for haemostatic and platelet disorders and for Fanconi anaemia in routine diagnostic service Anne Goodeve, Laura Crookes, Nikolas Niksic, Nicholas Beauchamp O7 Targeted sequencing panels and their utilization in personalized medicine Adel M.” | 0.98 | hgnc_dict_v1 |