deafness, Y-linked 2

Summary

deafness, Y-linked 2 (MONDO:0027048) is a disease. A subtype of nonsyndromic deafness, Y-linked — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• ClinVar variants: 2

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	deafness, Y-linked 2
Mondo ID	MONDO:0027048
OMIM	400047
DOID	DOID:0111758
UMLS	C5193013
MedGen	1677048
GARD	0025493
Is cancer (heuristic)	no

Also known as: deafness, Y-linked 2, Y-linked · DFNY2

Data availability: 2 ClinVar variants.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › Y-linked disease › nonsyndromic deafness, Y-linked › deafness, Y-linked 2

Related subtypes (1): hearing loss, Y-linked 1

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

2 retrieved; paginated sample, class counts are floors:

1 uncertain significance, 1 benign/likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
625467	NM_033284.2(TBL1Y):c.206A>T (p.Asp69Val)	LOC126057105	Uncertain significance	criteria provided, single submitter
719064	NM_033284.2(TBL1Y):c.457+1G>C	LOC126057105	Benign/Likely benign	criteria provided, multiple submitters, no conflicts

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.