Nail anomaly

Summary

Nail anomaly (MONDO:0019283) is a disease with 9 GWAS associations across 10 studies. A subtype of nail disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 9

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	nail anomaly
Mondo ID	MONDO:0019283
Orphanet	79368
UMLS	C0265997
MedGen	539627
MedDRA	10028684
Is cancer (heuristic)	no

Also known as: epidermal appendage anomaly of nail · nail epidermal appendage anomaly

Data availability: 9 GWAS associations (10 studies).

Disease family

This is a subtype of nail disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › integumentary system disorder › nail disorder › nail anomaly

Related subtypes (6): paronychia, nail tumor, inherited isolated nail anomaly, Basaran Yilmaz syndrome, Judge Misch wright syndrome, nail infection

Genetics & variants

GWAS landscape

9 GWAS associations across 10 studies. Top hits map to 2 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
chr17:44019103	2e-15		T	0.09
rs1421085	2e-13	FTO	T	0.07
chr12:54297077	4e-13		A	0.08
rs11642015	7e-13	FTO	C	0.06
chr6:705522	1e-12		T	0.07
rs2804731	2e-12	EXOC2 - LINC01622	T	0.06
rs79275870	1e-11	RN7SKP289 - HOXC13-AS	T	0.07
rs60814418	3e-11	LINC02210-CRHR1	C	0.07
rs1932546	4e-11	LINC00867 - SLC25A18P1	G	0.08

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90476208	Verma A	2024	26,179	408,186	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90478817	Verma A	2024	6,417	110,901	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480471	Verma A	2024	6,417	110,901	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90080357	Backman JD	2021	3,890	374,676	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084343	Backman JD	2021	3,890	374,676	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90478816	Verma A	2024	3,018	54,662	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90436624	Zhou W	2018	970	402,357	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90080356	Backman JD	2021	928	387,002	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084342	Backman JD	2021	928	387,002	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90727042	Kim HI	2026	896	43,130	Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	9

MAF distribution

Bucket	Variants
common (>=0.05)	9
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
intron_variant	5
unknown	3
intergenic_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
chr17:44019103				0.278			2e-15	Tier 4: intronic/intergenic
rs1421085	16	53767042	T>C	0.407	intron_variant	FTO	2e-13	Tier 4: intronic/intergenic
chr12:54297077				0.243			4e-13	Tier 4: intronic/intergenic
rs11642015	16	53768582	C>G,T	0.33	intron_variant	FTO	7e-13	Tier 4: intronic/intergenic
chr6:705522				0.311			1e-12	Tier 4: intronic/intergenic
rs2804731	6	702398	T>A,C,G	0.349	intron_variant	EXOC2 - LINC01622	2e-12	Tier 4: intronic/intergenic
rs79275870	12	53890227	T>A,C	0.17	intron_variant	RN7SKP289 - HOXC13-AS	1e-11	Tier 4: intronic/intergenic
rs60814418	17	45773279	C>T	0.233	intron_variant	LINC02210-CRHR1	3e-11	Tier 4: intronic/intergenic
rs1932546	10	118457451	G>A	0.155	intergenic_variant	LINC00867 - SLC25A18P1	4e-11	Tier 4: intronic/intergenic

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.