Skull disorder

Summary

Skull disorder (MONDO:0024654) is a disease (an umbrella term covering 6 Mondo subtypes) with 7 GWAS associations across 4 studies. A subtype of bone disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 6 Mondo subtypes
• GWAS associations: 7

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	skull disorder
Mondo ID	MONDO:0024654
NCIT	C27655
SNOMED CT	118945008
UMLS	C1290854
MedGen	226937
Anatomy (UBERON)	UBERON:0003129
Is cancer (heuristic)	no

Also known as: disease of skull · disease or disorder of skull · disorder of skull · skull disease · skull disease or disorder · skull disorder

Data availability: 7 GWAS associations (4 studies).

Disease family

This is a subtype of bone 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 › musculoskeletal system disorder › skeletal system disorder › bone disorder › skull disorder

Related subtypes (26): bone remodeling disease, disease of bone structure, mucopolysaccharidosis type 1, bone inflammation disease, Baastrup syndrome, periostitis, osteonecrosis, bone development disease, ainhum, cervical rib disease, coxoauricular syndrome, metachondromatosis, mucopolysaccharidosis type 9, Sagliker syndrome, mixed sclerosing bone dystrophy with extra-skeletal manifestations, GM1 gangliosidosis, skeletal dysplasia, autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome, mucopolysaccharidosis type 3, bone neoplasm, Duane anomaly-myopathy-scoliosis syndrome, mueller-weiss syndrome, SLC10A7-congenital disorder of glycosylation, metabolic bone disorder, proteoglycan-related bone disorder, ACAN-related short stature spectrum

Subtypes (6): petrositis, paranasal sinus disorder, cochlear disorder, enlarged vestibular aqueduct syndrome, disorder of facial skeleton, skull neoplasm

Genetics & variants

GWAS landscape

7 GWAS associations across 4 studies. Top hits map to 4 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs138757142	1e-12	LINC02505 - LINC02616	G	3.3
rs139573120	1e-12	A1CF - MIX23P2	A	2.79
rs530753281	5e-12	PCNX1	A	2.05
rs193288723	6e-12	WHRN	T	2.87
rs118184731	9e-12	PCDH15	C	2.73
rs1032973110	3e-11	EPHA7 - MTCYBP36	T	4.09
rs191447577	3e-11	PTPRT	C	2.62

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90477561	Verma A	2024	1,009	444,665	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480021	Verma A	2024	321	119,927	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90481878	Verma A	2024	321	119,927	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90435932	Zhou W	2018	144	395,209	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

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	7

MAF distribution

Bucket	Variants
common (>=0.05)	0
low_freq (0.01-0.05)	0
rare (<0.01)	7
unknown	0

Functional consequences

Consequence	Count
intergenic_variant	4
intron_variant	3

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs138757142	4	36820062	G>A	0	intergenic_variant	LINC02505 - LINC02616	1e-12	Tier 4: intronic/intergenic
rs139573120	10	50896350	A>G	0.001	intergenic_variant	A1CF - MIX23P2	1e-12	Tier 4: intronic/intergenic
rs530753281	14	70966728	A>T	0.002	intron_variant	PCNX1	5e-12	Tier 4: intronic/intergenic
rs193288723	9	114472473	T>C	0	intron_variant	WHRN	6e-12	Tier 4: intronic/intergenic
rs118184731	10	54955914	C>A,T	0.001	intergenic_variant	PCDH15	9e-12	Tier 4: intronic/intergenic
rs1032973110	6	94354059	T>A,G	0	intergenic_variant	EPHA7 - MTCYBP36	3e-11	Tier 4: intronic/intergenic
rs191447577	20	42731974	C>A,G,T	0.001	intron_variant	PTPRT	3e-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.