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GFAP and neurodevelopmental disorder are reported together in 2 articles.
Gene
GFAP
- HGNC
- HGNC:4235
53articles
53mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Neurodevelopmental disorder
- HPO
- HP:0012759
450articles
450mentions
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
2 records shown · first 60GLI1-fusion neoplasm of the tongue: report of a pediatric case associated with SHOX deficiency disorder.
PMID 42159714 | DOI 10.1007/s00428-026-04593-0 · Virchows Archiv : an international journal of pathology · 2026 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | GFAP | “Tumor cells were GLUT-1 positive and negative for S100, GFAP, pan-cytokeratin, SMA, WT-1, CD31, CD34, STAT6, β-catenin, and HMB-45, with Ki-67 nuclear staining of 10-15% of cells.” | 0.98 | hgnc_dict_v1 |
| phenotype | neurodevelopmental disorder | “In light of his neurodevelopmental disorders, further genetic evaluation was performed revealing SHOX deletion within PAR1 with complex Y-chromosomal rearrangement.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | SHOX | “GLI1-fusion neoplasm of the tongue: report of a pediatric case associated with SHOX deficiency disorder.” | 0.98 | hgnc_dict_v1 |
| gene | GLI1 | “GLI1-altered soft tissue tumor is a recently recognized entity featuring GLI1 fusions or amplifications, with predilection for the head and neck region and potential for metastasis.” | 0.98 | hgnc_dict_v1 |
Autism spectrum disorder (ASD): zinc suppresses cerebellar ultrastructural alterations and modulates the oxidative stress/gliosis/neuronal loss axis-mediated ASD.
PMID 42329217 | DOI 10.1080/01913123.2026.2683673 · Ultrastructural pathology · 2026 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | GFAP | “PPA also significantly (p < .05) modulated the cerebellar protein levels of the gliosis biomarker GFAP and the neuronal loss biomarker calbindin D28K, as well as the cerebellar tissue levels of zinc, glutathione, and the oxidative stress biomarker malondialdehyde (MDA).” | 0.98 | hgnc_dict_v1 |
| phenotype | neurodevelopmental disorder | “Autism spectrum disorder (ASD) is a neurodevelopmental disorder that typically appears in early childhood, and there is a link between ASD and zinc deficiency.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | autism spectrum disorder | “Autism spectrum disorder (ASD): zinc suppresses cerebellar ultrastructural alterations and modulates the oxidative stress/gliosis/neuronal loss axis-mediated ASD.” | 0.98 | phenotype_alias_lexicon_v2 |