Retinitis pigmentosa 58

disease

On this page

Also known as retinitis pigmentosa caused by mutation in ZNF513retinitis pigmentosa type 58RP58ZNF513 retinitis pigmentosa

Summary

Retinitis pigmentosa 58 (MONDO:0013328) is a disease with 1 cohort gene.

At a glance

Cohort genes: 1
ClinVar variants: 7

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	retinitis pigmentosa 58
Mondo ID	MONDO:0013328
OMIM	613617
DOID	DOID:0110362
UMLS	C3150879
MedGen	462229
GARD	0015682
Is cancer (heuristic)	no

Also known as: retinitis pigmentosa 58 · retinitis pigmentosa caused by mutation in ZNF513 · retinitis pigmentosa type 58 · RP58 · ZNF513 retinitis pigmentosa

Data availability: 7 ClinVar variants · 2 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › retinal disorder › retinal degeneration › inherited retinal dystrophy › retinitis pigmentosa › retinitis pigmentosa 58

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

7 retrieved; paginated sample, class counts are floors:

4 conflicting classifications of pathogenicity, 2 uncertain significance, 1 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
930689	NM_144631.6(ZNF513):c.279_283del (p.Ala94fs)	ZNF513	Likely pathogenic	criteria provided, single submitter
167864	NM_144631.6(ZNF513):c.781G>A (p.Val261Met)	ZNF513	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
28	NM_144631.6(ZNF513):c.1015T>C (p.Cys339Arg)	ZNF513	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
746690	NM_144631.6(ZNF513):c.748C>T (p.Arg250Trp)	ZNF513	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
850155	NM_144631.6(ZNF513):c.395G>C (p.Cys132Ser)	ZNF513	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
898692	NM_144631.6(ZNF513):c.-96G>A	LOC129933377	Uncertain significance	criteria provided, single submitter
1011278	NM_144631.6(ZNF513):c.424C>T (p.Pro142Ser)	ZNF513	Uncertain significance	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 3 · Orphanet: 1 · 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
ZNF513	Moderate	Autosomal recessive	retinitis pigmentosa 58	3

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
ZNF513	Orphanet:791	Retinitis pigmentosa

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
ZNF513	HGNC:26498	ENSG00000163795	Q8N8E2	Zinc finger protein 513	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
ZNF513	Zinc finger protein 513	Transcriptional regulator that plays a role in retinal development and maintenance.

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)
ZNF513	Transcription factor	no		Znf_C2H2_type, Znf_C2H2_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
adenohypophysis	1
left testis	1
right testis	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
ZNF513	222	ubiquitous	yes	right testis, left testis, adenohypophysis

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
ZNF513	766

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
ZNF513	Q8N8E2	60.20

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
retina development in camera-type eye	1	255.3×	0.012	ZNF513
visual perception	1	79.5×	0.019	ZNF513
positive regulation of transcription by RNA polymerase II	1	14.9×	0.067	ZNF513

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
ZNF513	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	ZNF513

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)
ZNF513	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: ZNF513