intellectual disability, X-linked 97

Summary

intellectual disability, X-linked 97 (MONDO:0010430) is a disease caused by ZNF711 (GenCC Definitive), with 1 cohort gene.

At a glance

• Causal gene: ZNF711 (GenCC Definitive)
• Cohort genes: 1
• ClinVar variants: 59

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	intellectual disability, X-linked 97
Mondo ID	MONDO:0010430
MeSH	C567583
OMIM	300803
DOID	DOID:0112046
UMLS	C2749020
MedGen	440689
GARD	0022686
Is cancer (heuristic)	no

Also known as: intellectual developmental disorder, X-linked 97 · intellectual disability, X-linked 97 · intellectual disability, X-linked type 97 · mental retardation, X-linked 65 · mental retardation, X-linked 97 · mental retardation, X-linked type 97 · MRX97 · non-syndromic X-linked intellectual disability caused by mutation in ZNF711 · ZNF711 non-syndromic X-linked intellectual disability

Data availability: 59 ClinVar variants · 4 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › neurodevelopmental disorder › intellectual disability › non-syndromic intellectual disability › non-syndromic X-linked intellectual disability › intellectual disability, X-linked 97

Related subtypes (51): intellectual disability, X-linked 23, intellectual disability, X-linked 20, intellectual disability, X-linked 14, intellectual disability, X-linked 50, intellectual disability, X-linked 21, intellectual disability, X-linked 58, intellectual disability, X-linked 72, intellectual disability, X-linked 53, intellectual disability, X-linked 73, intellectual disability, X-linked 42, intellectual disability, X-linked 63, intellectual disability, X-linked, with or without seizures, ARX-related, intellectual disability, X-linked 2, intellectual disability, X-linked 81, intellectual disability, X-linked 46, intellectual disability, X-linked 77, intellectual disability, X-linked 45, intellectual disability, X-linked 84, intellectual disability, X-linked 82, intellectual disability, X-linked 30, intellectual disability, X-linked 91, intellectual disability, X-linked 93, chromosome Xp11.22 duplication syndrome, intellectual disability, X-linked 95, intellectual disability, X-linked 96, intellectual disability, X-linked 19, intellectual disability, X-linked 89, intellectual disability, X-linked 41, intellectual disability, X-linked 90, intellectual disability, X-linked 92, intellectual disability, X-linked 88, intellectual disability, X-linked 99, intellectual disability, X-linked 100, intellectual disability, X-linked 101, intellectual disability, X-linked 102, intellectual disability, X-linked 61, intellectual disability, X-linked 103, intellectual disability, X-linked 104, intellectual disability, X-linked 105, intellectual disability, X-linked 1, methylmalonic acidemia with homocystinuria, type cblX, FRAXE intellectual disability, intellectual disability, X-linked 9, intellectual developmental disorder, X-linked 108, intellectual disability, X-linked 106, intellectual disability, X-linked 107, intellectual developmental disorder, X-linked 110, intellectual developmental disorder, X-linked 111, intellectual developmental disorder, X-linked 112, intellectual developmental disorder, X-linked 113, intellectual developmental disorder, X-linked 114

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

59 retrieved; paginated sample, class counts are floors:

31 uncertain significance, 12 benign, 5 likely pathogenic, 4 pathogenic, 3 benign/likely benign, 2 likely benign, 1 pathogenic/likely pathogenic, 1 conflicting classifications of pathogenicity

ClinVar	Variant (HGVS)	Gene	Classification	Review
1028742	NM_001330574.2(ZNF711):c.1068_1069del (p.Arg356fs)	ZNF711	Pathogenic	criteria provided, multiple submitters, no conflicts
417761	NM_001330574.2(ZNF711):c.2192del (p.Phe731fs)	ZNF711	Pathogenic	no assertion criteria provided
450911	NM_001330574.2(ZNF711):c.97dup (p.Thr33fs)	ZNF711	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
9762	NM_001330574.2(ZNF711):c.2265_2266del (p.Cys755_Glu756delinsTer)	ZNF711	Pathogenic	criteria provided, single submitter
9763	NM_001330574.2(ZNF711):c.1711A>T (p.Arg571Ter)	ZNF711	Pathogenic	no assertion criteria provided
2430809	NM_001330574.2(ZNF711):c.2299C>T (p.Arg767Ter)	ZNF711	Likely pathogenic	criteria provided, single submitter
2921256	NM_001330574.2(ZNF711):c.2217del (p.Lys739fs)	ZNF711	Likely pathogenic	criteria provided, multiple submitters, no conflicts
4076363	NM_001330574.2(ZNF711):c.1243del (p.Thr415fs)	ZNF711	Likely pathogenic	criteria provided, single submitter
417762	NM_001330574.2(ZNF711):c.731T>C (p.Ile244Thr)	ZNF711	Likely pathogenic	criteria provided, single submitter
495110	NM_001330574.2(ZNF711):c.1377dup (p.Tyr460fs)	ZNF711	Likely pathogenic	criteria provided, single submitter
930485	NM_001330574.2(ZNF711):c.569ATG[5] (p.Asp195del)	ZNF711	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1028239	NM_001330574.2(ZNF711):c.1882G>A (p.Asp628Asn)	ZNF711	Uncertain significance	criteria provided, multiple submitters, no conflicts
1098583	NM_001330574.2(ZNF711):c.1877A>G (p.His626Arg)	ZNF711	Uncertain significance	criteria provided, single submitter
1308077	NM_001330574.2(ZNF711):c.1379A>T (p.Tyr460Phe)	ZNF711	Uncertain significance	criteria provided, single submitter
130849	NM_001330574.2(ZNF711):c.124GTT[1] (p.Val43del)	ZNF711	Uncertain significance	criteria provided, multiple submitters, no conflicts
1330241	NM_001330574.2(ZNF711):c.61A>G (p.Met21Val)	ZNF711	Uncertain significance	criteria provided, single submitter
1683562	NM_001330574.2(ZNF711):c.321T>A (p.Asp107Glu)	ZNF711	Uncertain significance	criteria provided, single submitter
2438692	NM_001330574.2(ZNF711):c.416G>A (p.Gly139Glu)	ZNF711	Uncertain significance	criteria provided, single submitter
2438693	NM_001330574.2(ZNF711):c.-458_-438del	ZNF711	Uncertain significance	criteria provided, single submitter
2438694	NM_001330574.2(ZNF711):c.1761G>T (p.Arg587Ser)	ZNF711	Uncertain significance	criteria provided, single submitter
2438695	NM_001330574.2(ZNF711):c.900AGA[2] (p.Glu302del)	ZNF711	Uncertain significance	criteria provided, single submitter
2582549	NM_001330574.2(ZNF711):c.125T>G (p.Val42Gly)	ZNF711	Uncertain significance	criteria provided, single submitter
3255097	NM_001330574.2(ZNF711):c.493A>G (p.Thr165Ala)	ZNF711	Uncertain significance	criteria provided, single submitter
368743	NM_001330574.2(ZNF711):c.-350G>T	ZNF711	Uncertain significance	criteria provided, single submitter
368744	NM_001330574.2(ZNF711):c.-316T>A	ZNF711	Uncertain significance	criteria provided, single submitter
368747	NM_001330574.2(ZNF711):c.2162C>T (p.Pro721Leu)	ZNF711	Uncertain significance	criteria provided, multiple submitters, no conflicts
368749	NM_001330574.2(ZNF711):c.*118C>T	ZNF711	Uncertain significance	criteria provided, single submitter
368752	NM_001330574.2(ZNF711):c.*188A>G	ZNF711	Uncertain significance	criteria provided, single submitter
368754	NM_001330574.2(ZNF711):c.*540T>C	ZNF711	Uncertain significance	criteria provided, single submitter
368756	NM_001330574.2(ZNF711):c.*763G>A	ZNF711	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 5 · 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
ZNF711	Definitive	X-linked	intellectual disability, X-linked 97	5

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
ZNF711	Orphanet:777	X-linked non-syndromic intellectual disability

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
ZNF711	HGNC:13128	ENSG00000147180	Q9Y462	Zinc finger protein 711	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
ZNF711	Zinc finger protein 711	Transcription regulator required for brain development.

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)
ZNF711	Transcription factor	no		Transcrp_activ_Zfx/Zfy-dom, Znf_C2H2_type, Znf_C2H2_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
cortical plate	1
endothelial cell	1
ganglionic eminence	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
ZNF711	241	broad	marker	endothelial cell, cortical plate, ganglionic eminence

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
ZNF711	1,134

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
ZNF711	Q9Y462	1

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
Generic Transcription Pathway	1	15.1×	0.066	ZNF711

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 gene expression	1	83.4×	0.048	ZNF711
positive regulation of DNA-templated transcription	1	27.9×	0.072	ZNF711
positive regulation of transcription by RNA polymerase II	1	14.9×	0.086	ZNF711
regulation of transcription by RNA polymerase II	1	11.7×	0.086	ZNF711

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
ZNF711	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	ZNF711

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)
ZNF711	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.