factor XI deficiency

Summary

factor XI deficiency (MONDO:0020587) is a disease with 2 cohort genes and 1 clinical trial.

At a glance

• Cohort genes: 2
• ClinVar variants: 1
• Clinical trials: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	factor XI deficiency
Mondo ID	MONDO:0020587
MeSH	D005173
NCIT	C131739
SNOMED CT	767713001
UMLS	C4321502
MedGen	1386956
GARD	0025180
Is cancer (heuristic)	no

Also known as: factor XI deficiency

Data availability: 1 ClinVar variant.

Disease family

An umbrella term covering 2 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › hematologic disorder › blood coagulation disease › coagulation protein disease › hemophilia › factor XI deficiency

Related subtypes (3): hemophilia A, hemophilia B, acquired hemophilia

Subtypes (2): congenital factor XI deficiency, acquired factor XI deficiency

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

1 retrieved; paginated sample, class counts are floors:

1 pathogenic/likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
11901	NM_000128.4(F11):c.166T>C (p.Cys56Arg)	F11	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
F11	Orphanet:329	Congenital factor XI deficiency

Cohort genes → proteins

2 cohort genes, 2 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	2

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
ZNF160	HGNC:12948	ENSG00000170949	Q9HCG1	Zinc finger protein 160	clinvar
F11	HGNC:3529	ENSG00000088926	P03951	Coagulation factor XI	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
ZNF160	Zinc finger protein 160	May be involved in transcriptional regulation.
F11	Coagulation factor XI	Factor XI triggers the middle phase of the intrinsic pathway of blood coagulation by activating factor IX.

Protein-family classification

Druggable: 1 · Difficult: 1 · Unknown: 0 · Druggable fraction: 0.5

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
Protease	1	18.3×	0.108
Transcription factor	1	4.1×	0.228

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
ZNF160	Transcription factor	no		KRAB, Znf_C2H2_type, KRAB_dom_sf
F11	Protease	yes	3.4.21.27	Apple, Trypsin_dom, Peptidase_S1A

Expression context

Cohort genes with no expression data: 0.

2 cohort genes 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)	2
unknown	0

Top tissues across cohort

Tissue	Cohort genes
endothelial cell	1
pylorus	1
renal medulla	1
body of pancreas	1
liver	1
right lobe of liver	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
ZNF160	294	ubiquitous	marker	renal medulla, endothelial cell, pylorus
F11	153	tissue_specific	marker	right lobe of liver, liver, body of pancreas

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
F11	1,005
ZNF160	517

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
F11	P03951	114

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
ZNF160	Q9HCG1	68.98

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 5. Enrichment computed across 2 evidence-associated genes (2 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 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Defective F9 activation	1	951.7×	0.004	F11
FXIIa, PKa-dependent activation of coagulation pathway	1	571.0×	0.004	F11
Amplification and propagation of coagulation cascade	1	317.2×	0.005	F11
Regulation of clotting cascade	1	116.5×	0.011	F11
Generic Transcription Pathway	1	7.5×	0.128	ZNF160

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
positive regulation of fibrinolysis	1	1685.2×	0.003	F11
plasminogen activation	1	648.1×	0.004	F11
hemopoiesis	1	133.8×	0.012	ZNF160
blood coagulation	1	86.9×	0.014	F11
regulation of transcription by RNA polymerase II	1	5.8×	0.164	ZNF160

Therapeutics

Drug target analysis

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

Druggability breadth: 1 of 2 evidence-associated genes (50%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
F11	MELAGATRAN

Top cohort targets by molecule count

Symbol	Molecules	Max phase
F11	5	4
ZNF160	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
MELAGATRAN	4	F11
MILVEXIAN	3	F11
FRUNEXIAN	2	F11
BMS-962212	1	F11
ONO-7684	1	F11

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

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

Symbol	Assays	Type breakdown
F11	273	Binding:272, ADMET:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
F11	3.4.21.27	coagulation factor XIa

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
F11	273

Pharmacogenomics

Cohort genes with a PharmGKB record: 2; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

5 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.

Compound	Max phase	Cohort target (bioactivity)
MELAGATRAN	4	F11
MILVEXIAN	3	F11
FRUNEXIAN	2	F11
BMS-962212	1	F11
ONO-7684	1	F11

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	F11
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	ZNF160

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)
ZNF160	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT02785718	Not specified	UNKNOWN	The Proteins of the Contact Activation System