Epilepsy, idiopathic generalized 20
diseaseOn this page
Summary
Epilepsy, idiopathic generalized 20 (MONDO:0980988) is a disease with 1 cohort gene.
At a glance
- Cohort genes: 1
- ClinVar variants: 5
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | epilepsy, idiopathic generalized 20 |
| Mondo ID | MONDO:0980988 |
| OMIM | 621500 |
| Is cancer (heuristic) | no |
Data availability: 5 ClinVar variants.
Disease family
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › hereditary neurological disease › hereditary generalized epilepsy › idiopathic generalized epilepsy › variable-age onset idiopathic generalized epilepsy syndrome › epilepsy, idiopathic generalized 20
Related subtypes (3): epilepsy with generalized tonic-clonic seizures, juvenile myoclonic epilepsy, juvenile absence epilepsy
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
5 retrieved; paginated sample, class counts are floors:
3 pathogenic, 2 uncertain significance
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 4759510 | NM_006885.4(ZFHX3):c.10853C>A (p.Pro3618Gln) | ZFHX3 | Pathogenic | no assertion criteria provided |
| 4759512 | NM_006885.4(ZFHX3):c.4122TGC[1] (p.Ala1376del) | ZFHX3 | Pathogenic | no assertion criteria provided |
| 4759513 | NM_006885.4(ZFHX3):c.10455G>T (p.Lys3485Asn) | ZFHX3 | Pathogenic | no assertion criteria provided |
| 2376030 | NM_006885.4(ZFHX3):c.6161C>T (p.Ala2054Val) | ZFHX3 | Uncertain significance | criteria provided, single submitter |
| 3984467 | NM_006885.4(ZFHX3):c.2419G>A (p.Glu807Lys) | ZFHX3 | Uncertain significance | criteria provided, single submitter |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 0 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
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 |
|---|---|---|---|---|---|
| ZFHX3 | HGNC:777 | ENSG00000140836 | Q15911 | Zinc finger homeobox protein 3 | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| ZFHX3 | Zinc finger homeobox protein 3 | Transcriptional regulator which can act as an activator or a repressor. |
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) |
|---|---|---|---|---|
| ZFHX3 | Transcription factor | no | HD, Matrin/U1-like-C_Znf_C2H2, Homeodomain-like_sf |
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 |
|---|---|
| buccal mucosa cell | 1 |
| saphenous vein | 1 |
| synovial joint | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| ZFHX3 | 274 | ubiquitous | marker | saphenous vein, buccal mucosa cell, synovial joint |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| ZFHX3 | 1,649 |
Structural data
PDB: 1 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| ZFHX3 | Q15911 | 3 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 1. 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 |
|---|---|---|---|---|
| RUNX3 regulates CDKN1A transcription | 1 | 1631.4× | 6e-04 | ZFHX3 |
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 locomotor rhythm | 1 | 8426.0× | 0.002 | ZFHX3 |
| response to transforming growth factor beta | 1 | 1872.4× | 0.003 | ZFHX3 |
| regulation of neuron differentiation | 1 | 732.7× | 0.005 | ZFHX3 |
| negative regulation of myoblast differentiation | 1 | 624.1× | 0.005 | ZFHX3 |
| positive regulation of myoblast differentiation | 1 | 366.4× | 0.007 | ZFHX3 |
| positive regulation of cell adhesion | 1 | 271.8× | 0.008 | ZFHX3 |
| circadian regulation of gene expression | 1 | 234.1× | 0.008 | ZFHX3 |
| muscle organ development | 1 | 166.8× | 0.010 | ZFHX3 |
| regulation of DNA-templated transcription | 1 | 31.6× | 0.046 | ZFHX3 |
| positive regulation of DNA-templated transcription | 1 | 27.9× | 0.047 | ZFHX3 |
| negative regulation of transcription by RNA polymerase II | 1 | 17.7× | 0.067 | ZFHX3 |
| positive regulation of transcription by RNA polymerase II | 1 | 14.9× | 0.073 | ZFHX3 |
| regulation of transcription by RNA polymerase II | 1 | 11.7× | 0.086 | ZFHX3 |
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 |
|---|---|---|
| ZFHX3 | 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 | ZFHX3 |
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) |
|---|---|---|
| ZFHX3 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
- Cohort genes: ZFHX3