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ATOH1 and intellectual disability are reported together in 1 article.
Gene
ATOH1
- HGNC
- HGNC:797
2articles
2mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Intellectual disability
- HPO
- HP:0001249
736articles
736mentions
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 60Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.
PMID 27431290 | DOI 10.1038/mp.2016.113 · Molecular psychiatry · 2017 · 41 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ATOH1 | “In addition, exome sequencing revealed de novo and recessive variants in 32 genes (MAMDC2, TUBAL3, CPNE6, KLHL24, USP2, PIP5K1A, UBE4A, TP53TG5, ATOH1, C16ORF90, SLC39A14, TRERF1, RGL1, CDH11, SYDE2, HIRA, FEZF2, PROCA1, PIANP, PLK2, QRFPR, AP3B2, NUDT2, UFC1, BTN3A2, TADA1, ARFGEF3, FAM160B1, ZMYM5, SLC45A1, ARHGAP33 and CAPS2), which we highlight as potential candidates on the basis of several lines of evidence, and one of these genes (SLC39A14) was biallelically inactivated in a potentially treatable form of hypermanganesemia and neurodegeneration.” | 0.98 | hgnc_dict_v1 |
| phenotype | intellectual disability | “Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | DENND5A | “Exome sequencing also identified likely pathogenic variants in three novel candidate genes (DENND5A, NEMF and DNHD1) each of which harbored independent homozygous mutations in patients with overlapping phenotypes.” | 0.98 | hgnc_dict_v1 |
| gene | NEMF | “Exome sequencing also identified likely pathogenic variants in three novel candidate genes (DENND5A, NEMF and DNHD1) each of which harbored independent homozygous mutations in patients with overlapping phenotypes.” | 0.98 | hgnc_dict_v1 |