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Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.

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KDM5B and neurodevelopmental disorder are reported together in 1 article.

Gene

KDM5B

HGNC
HGNC:18039
3articles
3mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
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

1 records shown · first 60

Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families.

PMID 28720891 | PMCID PMC5515956 | DOI 10.1038/s41598-017-06033-1 · Scientific reports · 2017 · 15 validated mentions
TypeEntitySource evidenceConfidenceExtractor
geneKDM5B“Examples include SUMF1, KDM5B and MXRA5 (Known-ASD genes), PRODH2 and KCTD21 (implicated in schizophrenia), as well as USP9X and SMS (implicated in intellectual disability).”0.98hgnc_dict_v1
phenotypeneurodevelopmental disorder“Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with genetic and clinical heterogeneity.”0.98phenotype_alias_lexicon_v2
geneGLT8D1“Our pipeline uncovered variants in 15 ASD-candidate genes, including 5 (GLT8D1, HTATSF1, OR6C65, ITIH6 and DDX26B) that have not been reported in any human condition.”0.98hgnc_dict_v1
geneHTATSF1“Our pipeline uncovered variants in 15 ASD-candidate genes, including 5 (GLT8D1, HTATSF1, OR6C65, ITIH6 and DDX26B) that have not been reported in any human condition.”0.98hgnc_dict_v1