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TET2 and epilepsy are reported together in 1 article.

Gene

TET2

12articles

12mentions

0variants with confirmed gene link

Most co-reported phenotypes (articles)

Phenotype

2,084articles

2,084mentions

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.

1 records shown · first 60

PMID 35229282 | DOI 10.1111/cge.14126 · Clinical genetics · 2022 · 8 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	TET2	“PROSER1 stabilizes TET2, a member of the TET family of DNA demethylases which is involved in recruiting the enhancer-associated KMT2C/KMT2D complexes and mediating DNA demethylation, activating gene expression.”	0.98	hgnc_dict_v1
phenotype	epilepsy	“We report four children from three related families who presented with a similar phenotype characterized by developmental delay, hypotonia, seizures, failure-to-thrive, strabismus, drooling, recurrent otitis media, hearing impairment, and genitourinary malformations.”	0.93	phenotype_alias_lexicon_v2
gene	PROSER1	“A homozygous frame-shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features.”	0.98	hgnc_dict_v1
gene	KMT2C	“PROSER1 has recently been found to be part of the histone methyltransferases KMT2C/KMT2D complexes.”	0.98	hgnc_dict_v1