Pancreatic agenesis 3

disease

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Summary

Pancreatic agenesis 3 (MONDO:0975839) is a disease caused by ZNF808 (GenCC Strong), with 1 cohort gene.

At a glance

Causal gene: ZNF808 (GenCC Strong)
Cohort genes: 1
ClinVar variants: 8

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	pancreatic agenesis 3
Mondo ID	MONDO:0975839
OMIM	620991
UMLS	C5975489
MedGen	1875019
GARD	0027329
Is cancer (heuristic)	no

Data availability: 8 ClinVar variants · 1 GenCC gene-disease record.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › pancreatic agenesis › pancreatic agenesis 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

8 retrieved; paginated sample, class counts are floors:

6 pathogenic, 2 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
3366910	NM_001039886.4(ZNF808):c.637del (p.Pro212_Leu213insTer)	ZNF808	Pathogenic	no assertion criteria provided
3366911	ZNF808, EX4-5DEL	ZNF808	Pathogenic	no assertion criteria provided
3366912	NM_001039886.4(ZNF808):c.696_697del (p.Pro232_Cys233insTer)	ZNF808	Pathogenic	no assertion criteria provided
3366913	NM_001039886.4(ZNF808):c.1136del (p.Ala379fs)	ZNF808	Pathogenic	no assertion criteria provided
3366914	NM_001039886.4(ZNF808):c.1584C>A (p.Tyr528Ter)	ZNF808	Pathogenic	no assertion criteria provided
3366915	NM_001039886.4(ZNF808):c.2309del (p.Asn770fs)	ZNF808	Pathogenic	no assertion criteria provided
2505171	NM_001039886.4(ZNF808):c.1448dup (p.Tyr483Ter)	ZNF808	Likely pathogenic	criteria provided, single submitter
3901191	NM_001039886.4(ZNF808):c.1948del (p.Thr650fs)	ZNF808	Likely pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

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

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
ZNF808	Strong	Autosomal recessive	pancreatic agenesis 3

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
ZNF808	HGNC:33230	ENSG00000198482	Q8N4W9	Zinc finger protein 808	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
ZNF808	Zinc finger protein 808	Transcriptional repressor that targets mainly transposable elements.

Protein-family classification

Druggable: 0 · Difficult: 1 · Unknown: 0 · Druggable fraction: 0.0

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
Transcription factor	1	8.3×	0.121

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
ZNF808	Transcription factor	no		KRAB, Znf_C2H2_type, KRAB_dom_sf

Expression context

Cohort genes with no expression data: 0.

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
calcaneal tendon	1
colonic epithelium	1
corpus callosum	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
ZNF808	134	ubiquitous	yes	colonic epithelium, corpus callosum, calcaneal tendon

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
ZNF808	350

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
ZNF808	Q8N4W9	68.90

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).

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
pancreas development	1	674.1×	0.006	ZNF808
negative regulation of gene expression	1	69.1×	0.029	ZNF808
cell differentiation	1	29.1×	0.046	ZNF808
regulation of transcription by RNA polymerase II	1	11.7×	0.086	ZNF808

Therapeutics

Drug target analysis

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

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
ZNF808	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

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

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	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	ZNF808

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)
ZNF808	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: ZNF808