120-association public preview gene page

NEFH

neurofilament heavy chain

Research use only. This page reports source-attributed evidence observed in the included release data. A gene symbol may appear in more than one rendered disease release. This is not medical advice, diagnosis, treatment guidance, patient risk prediction, clinical decision support, or clinical certainty. It covers only associations included in this release's fixed 120-association preview scope; absence from this page is not evidence of absence.

HGNC:7737 primary gene id

1 associations

2 evidence rows

1 releases

Release Packages

Methods and glossary

amyotrophic-lateral-sclerosis-top120-v0.1.0-preview

release directory Git tag Data dictionary integrity.json ZIP archive

Identity

genes.json

Symbol: NEFH
Name: neurofilament heavy chain
Aliases: NF-H, NFH
Provenance: ClinVar, HGNC, Open Targets Platform

Amyotrophic lateral sclerosis

assoc:7737:0004976:879ad0c27735 · amyotrophic-lateral-sclerosis-top120-v0.1.0-preview

association row

Status: observed unreviewed
Support tier: multi source observed
Review: automatic checks only
Max source-reported score: 0.493

Source Coverage

Supporting sources: ClinVar, Open Targets Platform

Multiple supporting sources are present in release evidence coverage.

ClinVar: Variant/condition source context; not diagnostic advice, treatment guidance, or clinical decision support. NCBI public data; reuse subject to NCBI policies; citation. Source freshness: refresh recommended; assessed Jun 9, 2026; next review Jul 9, 2026. Snapshot freshness: refresh recommended; assessed Jun 9, 2026; next review Jul 9, 2026; gene_condition_source_id-2026-06-14-paper120, 17 records.
Open Targets Platform: Source-attributed evidence signal; scores are not clinical truth or a combined confidence score. CC0 1.0; citation. Source freshness: refresh recommended; assessed Jun 9, 2026; next review Jul 9, 2026. Snapshot freshness: refresh recommended; assessed Jun 9, 2026; next review Jul 9, 2026; api-v4-graphql-2026-06-14-paper120, 120 records.

Evidence Rows evidence_rows.jsonl

Source	Type	Statement	Open Targets score
Open Targets Platform OT:ENSG00000100285:MONDO_0004976	target disease association	Open Targets reports NEFH as associated with amyotrophic lateral sclerosis.	0.493
ClinVar ClinVarGeneCondition:4744:NEFH:C0002736:MONDO:0004976	clinical variant context	ClinVar gene_condition_source_id reports NEFH in relation to Amyotrophic lateral sclerosis (MONDO:0004976) via MONDO.	not scored

Open Targets score breakdown

Source-attributed signals reported by Open Targets for OT:ENSG00000100285:MONDO_0004976. Each value is Open Targets' own per-datatype or per-datasource score — not truth, clinical validity, or a combined confidence score. Labels such as clinical and clinical_precedence are Open Targets' own datatype and datasource names, not a clinical-use or clinical-validity signal for this association. The overall score is Open Targets' own aggregate over these datasources; because those datasources can overlap with evidence from other sources, the overall score is not an independent line of corroboration.

By datatype

literature 0.908
animal_model 0.564
genetic_association 0.549
genetic_literature 0.488

By datasource

europepmc 0.908
uniprot_literature 0.608
uniprot_variants 0.608
impc 0.564
eva 0.311
clingen 0.006

Caveats

Public-candidate draft; research-use only and not a clinical finding.
AI/referee review artifacts are advisory and do not replace human scientific review.
ClinVar gene-condition context has not passed human scientific review.
ClinVar gene-condition context is provenance only; not diagnostic, treatment, or clinical decision-making guidance.
Open Targets scores are source-attributed evidence signals, not truth or clinical validity scores.
Open Targets target-disease association context is not diagnostic, treatment, or clinical decision-making guidance.

Source names identify provenance only and do not imply endorsement by HGNC, MONDO, Open Targets, ClinVar, NCBI, or any upstream source.