Spondyloarthropathy, susceptibility to, 1

Summary

Spondyloarthropathy, susceptibility to, 1 (MONDO:0007126) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 2

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	spondyloarthropathy, susceptibility to, 1
Mondo ID	MONDO:0007126
OMIM	106300
DOID	DOID:0080603
UMLS	C1862852
MedGen	400145
Is cancer (heuristic)	no

Also known as: HLA-B spondyloarthropathy, susceptibility to · SPDA1 · spondyloarthropathy, susceptibility to caused by mutation in HLA-B · spondyloarthropathy, susceptibility to, 1 · spondyloarthropathy, susceptibility to, type 1

Data availability: 2 ClinVar variants.

Disease family

Classification path: disease susceptibility › inherited disease susceptibility › spondyloarthropathy, susceptibility to › spondyloarthropathy, susceptibility to, 1

Related subtypes (2): spondyloarthropathy, susceptibility to, 2, spondyloarthropathy, susceptibility to, 3

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 risk factor, 1 uncertain significance

ClinVar	Variant (HGVS)	Gene	Classification	Review
14908	HLA-B*27	HLA-B	risk factor	no assertion criteria provided
3891330	NM_005514.8(HLA-B):c.959T>C (p.Val320Ala)	HLA-B	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 6 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
HLA-B	Orphanet:117	Behçet disease
HLA-B	Orphanet:275798	Pulmonary arterial hypertension associated with connective tissue disease
HLA-B	Orphanet:29207	Reactive arthritis
HLA-B	Orphanet:3287	Takayasu arteritis
HLA-B	Orphanet:36426	Stevens-Johnson syndrome
HLA-B	Orphanet:397	Giant cell arteritis

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
HLA-B	HGNC:4932	ENSG00000234745	P01889	HLA class I histocompatibility antigen, B alpha chain	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
HLA-B	HLA class I histocompatibility antigen, B alpha chain	Antigen-presenting major histocompatibility complex class I (MHCI) molecule.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Antibody/Immunoglobulin	1	29.2×	0.034

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
HLA-B	Antibody/Immunoglobulin	yes		MHC_I_a_a1/a2, Ig/MHC_CS, Ig_C1-set

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
blood	1
granulocyte	1
spleen	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
HLA-B	134	ubiquitous	marker	blood, spleen, granulocyte

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
HLA-B	3,209

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
HLA-B	P01889	237

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 9. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Endosomal/Vacuolar pathway	1	1038.2×	0.008	HLA-B
DAP12 interactions	1	475.8×	0.008	HLA-B
Antigen Presentation: Folding, assembly and peptide loading of class I MHC	1	393.8×	0.008	HLA-B
Interferon alpha/beta signaling	1	152.3×	0.012	HLA-B
ER-Phagosome pathway	1	129.8×	0.012	HLA-B
Interferon gamma signaling	1	125.5×	0.012	HLA-B
SARS-CoV-2 activates/modulates innate and adaptive immune responses	1	89.2×	0.013	HLA-B
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell	1	87.2×	0.013	HLA-B
Neutrophil degranulation	1	23.1×	0.043	HLA-B

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
regulation of dendritic cell differentiation	1	5617.3×	0.001	HLA-B
regulation of T cell anergy	1	4213.0×	0.001	HLA-B
regulation of interleukin-12 production	1	4213.0×	0.001	HLA-B
protection from natural killer cell mediated cytotoxicity	1	2808.7×	0.001	HLA-B
regulation of interleukin-6 production	1	1685.2×	0.001	HLA-B
detection of bacterium	1	1404.3×	0.001	HLA-B
antigen processing and presentation of endogenous peptide antigen via MHC class Ib	1	1296.3×	0.001	HLA-B
antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent	1	1296.3×	0.001	HLA-B
positive regulation of T cell mediated cytotoxicity	1	510.7×	0.003	HLA-B
defense response	1	216.1×	0.006	HLA-B
adaptive immune response	1	84.3×	0.014	HLA-B
immune response	1	47.1×	0.023	HLA-B
innate immune response	1	33.6×	0.030	HLA-B

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
HLA-B	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
HLA-B	1	Binding:1

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 1.

Cohort genes with a CPIC/DPWG dosing guideline

Symbol	CPIC guidelines
HLA-B	1

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	1	HLA-B
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	0

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
HLA-B	1	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.