Nanophthalmos 1
diseaseOn this page
Also known as nanophthalmos-1NNO1
Summary
Nanophthalmos 1 (MONDO:0010836) is a disease with 1 cohort gene.
At a glance
- Cohort genes: 1
- ClinVar variants: 9
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | nanophthalmos 1 |
| Mondo ID | MONDO:0010836 |
| MeSH | C563983 |
| OMIM | 600165 |
| UMLS | C1838502 |
| MedGen | 325037 |
| GARD | 0018625 |
| Is cancer (heuristic) | no |
Also known as: nanophthalmos 1 · nanophthalmos-1 · NNO1
Data availability: 9 ClinVar variants.
Disease family
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › nanophthalmia › nanophthalmos 1
Related subtypes (3): nanophthalmos 2, nanophthalmos 3, nanophthalmos 4
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
9 retrieved; paginated sample, class counts are floors:
6 pathogenic, 1 likely pathogenic, 1 uncertain significance, 1 conflicting classifications of pathogenicity
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 3894587 | NM_001127392.3(MYRF):c.3376-1G>A | MYRF | Pathogenic | no assertion criteria provided |
| 3894589 | MYRF, 1-BP DEL, 789C (rs769274302) | MYRF | Pathogenic | no assertion criteria provided |
| 3894590 | MYRF, 1-BP DUP, 789C (rs769274302) | MYRF | Pathogenic | no assertion criteria provided |
| 3894591 | MYRF, ARG478PRO | MYRF | Pathogenic | no assertion criteria provided |
| 3894592 | MYRF, ARG986TER | MYRF | Pathogenic | no assertion criteria provided |
| 635185 | NM_001127392.3(MYRF):c.3361del (p.Arg1121fs) | MYRF | Pathogenic | no assertion criteria provided |
| 4540456 | NM_001127392.3(MYRF):c.1048del (p.Ser350fs) | MYRF | Likely pathogenic | criteria provided, single submitter |
| 996604 | NM_001127392.3(MYRF):c.2036T>C (p.Val679Ala) | MYRF | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 4819798 | NM_001127392.3(MYRF):c.1116-28A>G | MYRF | Uncertain significance | criteria provided, single submitter |
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 |
|---|---|---|
| MYRF | Orphanet:647811 | Cardiac-urogenital syndrome |
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 |
|---|---|---|---|---|---|
| MYRF | HGNC:1181 | ENSG00000124920 | Q9Y2G1 | Myelin regulatory factor | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| MYRF | Myelin regulatory factor | Constitutes a precursor of the transcription factor. |
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) |
|---|---|---|---|---|
| MYRF | Transcription factor | no | p53-like_TF_DNA-bd_sf, NDT80_DNA-bd_dom, MYRF_C2 |
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 |
|---|---|
| C1 segment of cervical spinal cord | 1 |
| inferior vagus X ganglion | 1 |
| middle frontal gyrus | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| MYRF | 223 | ubiquitous | marker | middle frontal gyrus, C1 segment of cervical spinal cord, inferior vagus X ganglion |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| MYRF | 979 |
Structural data
PDB: 1 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| MYRF | Q9Y2G1 | 2 |
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 |
|---|---|---|---|---|
| central nervous system myelin maintenance | 1 | 2808.7× | 0.002 | MYRF |
| central nervous system myelination | 1 | 991.3× | 0.002 | MYRF |
| positive regulation of myelination | 1 | 766.0× | 0.002 | MYRF |
| response to immobilization stress | 1 | 732.7× | 0.002 | MYRF |
| positive regulation of oligodendrocyte differentiation | 1 | 674.1× | 0.002 | MYRF |
| protein autoprocessing | 1 | 648.1× | 0.002 | MYRF |
| oligodendrocyte development | 1 | 601.9× | 0.002 | MYRF |
| response to cocaine | 1 | 581.1× | 0.002 | MYRF |
| oligodendrocyte differentiation | 1 | 421.3× | 0.003 | MYRF |
| positive regulation of DNA-templated transcription | 1 | 27.9× | 0.036 | MYRF |
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 |
|---|---|---|
| MYRF | 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 | MYRF |
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) |
|---|---|---|
| MYRF | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
- Cohort genes: MYRF