dilated cardiomyopathy 2B

Summary

dilated cardiomyopathy 2B (MONDO:0013848) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 177

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	dilated cardiomyopathy 2B
Mondo ID	MONDO:0013848
OMIM	614672
DOID	DOID:0110441
UMLS	C3553409
MedGen	766323
GARD	0015832
Is cancer (heuristic)	no

Also known as: cardiomyopathy, dilated, 2B · cardiomyopathy, dilated, type 2B · CMD2B · dilated cardiomyopathy 2B · dilated cardiomyopathy type 2B · familial isolated dilated cardiomyopathy caused by mutation in GATAD1 · GATAD1 familial isolated dilated cardiomyopathy

Data availability: 177 ClinVar variants · 4 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › muscle tissue disorder › cardiomyopathy › intrinsic cardiomyopathy › dilated cardiomyopathy › familial dilated cardiomyopathy › familial isolated dilated cardiomyopathy › dilated cardiomyopathy 2B

Related subtypes (44): dilated cardiomyopathy 1A, dilated cardiomyopathy 3B, dilated cardiomyopathy 1B, dilated cardiomyopathy 1E, dilated cardiomyopathy 1C, dilated cardiomyopathy 1D, dilated cardiomyopathy 1G, dilated cardiomyopathy 1H, dilated cardiomyopathy 1I, dilated cardiomyopathy 1K, dilated cardiomyopathy 1L, dilated cardiomyopathy 1M, dilated cardiomyopathy 1O, dilated cardiomyopathy 1P, dilated cardiomyopathy 1Q, dilated cardiomyopathy 1W, dilated cardiomyopathy 1X, dilated cardiomyopathy 1Y, dilated cardiomyopathy 1Z, dilated cardiomyopathy 2A, dilated cardiomyopathy 1AA, dilated cardiomyopathy 1BB, dilated cardiomyopathy 1CC, dilated cardiomyopathy 1DD, dilated cardiomyopathy 1EE, dilated cardiomyopathy 1FF, dilated cardiomyopathy 1R, dilated cardiomyopathy 1S, dilated cardiomyopathy 1GG, dilated cardiomyopathy 1U, dilated cardiomyopathy 1V, dilated cardiomyopathy 1HH, dilated cardiomyopathy 1II, dilated cardiomyopathy 1JJ, dilated cardiomyopathy 1KK, left ventricular noncompaction 8, left ventricular noncompaction 10, dilated cardiomyopathy 1NN, cardiomyopathy, dilated, 2D, cardiomyopathy, dilated, 2E, cardiomyopathy, dilated, 2F, cardiomyopathy, dilated, 2G, cardiomyopathy, dilated, 2c, cardiomyopathy, dilated, 2H

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

177 retrieved; paginated sample, class counts are floors:

95 uncertain significance, 70 likely benign, 5 benign/likely benign, 3 benign, 3 conflicting classifications of pathogenicity, 1 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
31656	NM_021167.5(GATAD1):c.304T>C (p.Ser102Pro)	GATAD1	Pathogenic	no assertion criteria provided
228693	NM_021167.5(GATAD1):c.166GGC[5] (p.Gly59dup)	GATAD1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
228695	NM_021167.5(GATAD1):c.376-13dup	GATAD1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
228696	NM_021167.5(GATAD1):c.96T>G (p.His32Gln)	GATAD1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1005144	NM_021167.5(GATAD1):c.231GGGCGG[3] (p.Gly80_Gly81dup)	GATAD1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1007739	NM_021167.5(GATAD1):c.170G>C (p.Gly57Ala)	GATAD1	Uncertain significance	criteria provided, single submitter
1012067	NM_021167.5(GATAD1):c.184G>A (p.Ala62Thr)	GATAD1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1055710	NM_021167.5(GATAD1):c.770C>T (p.Pro257Leu)	GATAD1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1345396	NM_021167.5(GATAD1):c.524A>G (p.Gln175Arg)	GATAD1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1349772	NM_021167.5(GATAD1):c.145G>T (p.Ala49Ser)	GATAD1	Uncertain significance	criteria provided, single submitter
1353904	NM_021167.5(GATAD1):c.632A>T (p.Asp211Val)	GATAD1	Uncertain significance	criteria provided, single submitter
1373182	NM_021167.5(GATAD1):c.578C>G (p.Ser193Cys)	GATAD1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1381957	NM_021167.5(GATAD1):c.157G>C (p.Gly53Arg)	GATAD1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1400160	NM_021167.5(GATAD1):c.375+3A>G	GATAD1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1402048	NM_021167.5(GATAD1):c.57G>A (p.Met19Ile)	GATAD1	Uncertain significance	criteria provided, single submitter
1412428	NM_021167.5(GATAD1):c.112_120del (p.Gly38_Gly40del)	GATAD1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1414222	NM_021167.5(GATAD1):c.627G>T (p.Glu209Asp)	GATAD1	Uncertain significance	criteria provided, single submitter
1414569	NM_021167.5(GATAD1):c.307G>T (p.Ala103Ser)	GATAD1	Uncertain significance	criteria provided, single submitter
1435533	NM_021167.5(GATAD1):c.691A>G (p.Lys231Glu)	GATAD1	Uncertain significance	criteria provided, single submitter
1442509	NM_021167.5(GATAD1):c.155C>G (p.Thr52Ser)	GATAD1	Uncertain significance	criteria provided, single submitter
1494990	NM_021167.5(GATAD1):c.389C>A (p.Pro130His)	GATAD1	Uncertain significance	criteria provided, single submitter
1500685	NM_021167.5(GATAD1):c.163A>T (p.Ser55Cys)	GATAD1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1502106	NM_021167.5(GATAD1):c.721C>T (p.Pro241Ser)	GATAD1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1503551	NM_021167.5(GATAD1):c.411C>G (p.Ile137Met)	GATAD1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1524956	NM_021167.5(GATAD1):c.646A>T (p.Met216Leu)	GATAD1	Uncertain significance	criteria provided, multiple submitters, no conflicts
163499	NM_021167.5(GATAD1):c.604G>A (p.Ala202Thr)	GATAD1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1728792	NM_021167.5(GATAD1):c.31G>A (p.Val11Ile)	GATAD1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1739060	NM_021167.5(GATAD1):c.424A>G (p.Ile142Val)	GATAD1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1752705	NM_021167.5(GATAD1):c.62A>G (p.Lys21Arg)	GATAD1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1753756	NM_021167.5(GATAD1):c.647T>C (p.Met216Thr)	GATAD1	Uncertain significance	criteria provided, multiple submitters, no conflicts

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
GATAD1	Supportive	Autosomal dominant	familial isolated dilated cardiomyopathy	5

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
GATAD1	Orphanet:154	Familial isolated dilated cardiomyopathy

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
GATAD1	HGNC:29941	ENSG00000157259	Q8WUU5	GATA zinc finger domain-containing protein 1	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
GATAD1	GATA zinc finger domain-containing protein 1	Component of some chromatin complex recruited to chromatin sites methylated ‘Lys-4’ of histone H3 (H3K4me), with a preference for trimethylated form (H3K4me3).

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)
GATAD1	Transcription factor	no		Znf_GATA, Znf_NHR/GATA, GATAD1

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
inferior vagus X ganglion	1
left ovary	1
right uterine tube	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
GATAD1	287	ubiquitous	marker	left ovary, right uterine tube, inferior vagus X ganglion

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
GATAD1	1,065

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
GATAD1	Q8WUU5	1

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
chromatin organization	1	99.1×	0.021	GATAD1
chromatin remodeling	1	73.0×	0.021	GATAD1
regulation of DNA-templated transcription	1	31.6×	0.032	GATAD1

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
GATAD1	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	GATAD1

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)
GATAD1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.