Intellectual disability, autosomal dominant 30
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Also known as autosomal dominant intellectual disability 30intellectual disability, autosomal dominant type 30intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in ZMYND11mental retardation, autosomal dominant 30mental retardation, autosomal dominant type 30MRD30ZMYND11 intellectual disability-expressive aphasia-facial dysmorphism syndrome
Summary
Intellectual disability, autosomal dominant 30 (MONDO:0014486) is a disease caused by ZMYND11 (GenCC Strong), with 2 cohort genes.
At a glance
- Causal gene: ZMYND11 (GenCC Strong)
- Cohort genes: 2
- ClinVar variants: 91
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | intellectual disability, autosomal dominant 30 |
| Mondo ID | MONDO:0014486 |
| OMIM | 616083 |
| Orphanet | 694304, 694308 |
| DOID | DOID:0070060 |
| UMLS | C4015167 |
| MedGen | 863604 |
| GARD | 0013136 |
| Is cancer (heuristic) | no |
Also known as: autosomal dominant intellectual disability 30 · intellectual disability, autosomal dominant 30 · intellectual disability, autosomal dominant type 30 · intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in ZMYND11 · mental retardation, autosomal dominant 30 · mental retardation, autosomal dominant type 30 · MRD30 · ZMYND11 intellectual disability-expressive aphasia-facial dysmorphism syndrome
Data availability: 91 ClinVar variants · 4 GenCC gene-disease records.
Disease family
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › autosomal genetic disease › autosomal dominant disease › intellectual disability, autosomal dominant 30
Related subtypes (191): autosomal dominant polycystic liver disease, cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, tuberous sclerosis, Treacher-Collins syndrome, hereditary breast ovarian cancer syndrome, autosomal dominant polycystic kidney disease, Lynch syndrome, branchio-oto-renal syndrome, autosomal dominant Aarskog syndrome, acroosteolysis dominant type, ADULT syndrome, autosomal dominant Alport syndrome, amelogenesis imperfecta type 1B, Townes-Brocks syndrome, nevoid basal cell carcinoma syndrome, blepharophimosis, ptosis, and epicanthus inversus syndrome, autosomal dominant brachyolmia, branchiooculofacial syndrome, pheochromocytoma/paraganglioma syndrome 4, cataract-aberrant oral frenula-growth delay syndrome, cherubism, autosomal dominant chondrodysplasia punctata, autosomal dominant popliteal pterygium syndrome, blepharocheilodontic syndrome, cochleosaccular degeneration-cataract syndrome, renal coloboma syndrome, Beare-Stevenson cutis gyrata syndrome, autosomal dominant vibratory urticaria, neurohypophyseal diabetes insipidus, autosomal dominant Kenny-Caffey syndrome, Rapp-Hodgkin syndrome, Ehlers-Danlos syndrome, classic type, autosomal dominant Ehlers-Danlos syndrome, vascular type, multiple endocrine neoplasia type 1, Coffin-Siris syndrome 1, isolated congenital adermatoglyphia, Flynn-Aird syndrome, Frasier syndrome, hand-foot-genital syndrome, Holt-Oram syndrome, hyperkeratosis-hyperpigmentation syndrome, autosomal dominant ichthyosis vulgaris, hyper-IgE recurrent infection syndrome 1, autosomal dominant, autosomal dominant keratitis, autosomal dominant keratitis-ichthyosis-hearing loss syndrome, LADD syndrome, trichorhinophalangeal syndrome type II, Noonan syndrome with multiple lentigines, microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability, Marfan syndrome, melanoma, cutaneous malignant, susceptibility to, 2, autosomal dominant primary microcephaly, autosomal dominant progressive external ophthalmoplegia, monilethrix, Muir-Torre syndrome, autosomal dominant myoglobinuria, autosomal dominant centronuclear myopathy, nail-patella syndrome, multiple endocrine neoplasia type 2B, autosomal dominant omodysplasia, pheochromocytoma/paraganglioma syndrome 1, Pelger-Huet anomaly, multiple endocrine neoplasia type 2A, piebaldism, autosomal dominant medullary cystic kidney disease with or without hyperuricemia, generalized juvenile polyposis/juvenile polyposis coli, juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Peutz-Jeghers syndrome, contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, autosomal dominant distal renal tubular acidosis, retinoschisis, autosomal dominant, autosomal dominant Robinow syndrome, scapuloperoneal spinal muscular atrophy, autosomal dominant, autosomal dominant sideroblastic anemia, spondyloepiphyseal dysplasia tarda, autosomal dominant, proximal symphalangism, calcaneonavicular coalition, thanatophoric dysplasia type 1, trichorhinophalangeal syndrome type I, Muckle-Wells syndrome, autosomal dominant hypophosphatemic rickets, von Hippel-Lindau disease, Denys-Drash syndrome, autosomal dominant severe congenital neutropenia, Costello syndrome, EEC syndrome, multiple cutaneous and mucosal venous malformations, diffuse nonepidermolytic palmoplantar keratoderma, Timothy syndrome, pheochromocytoma/paraganglioma syndrome 2, spondyloepimetaphyseal dysplasia with multiple dislocations, Brooke-Spiegler syndrome, macrocephaly-autism syndrome, pheochromocytoma/paraganglioma syndrome 3, Duane-radial ray syndrome, PCWH syndrome, heart-hand syndrome, Slovenian type, congenital stationary night blindness autosomal dominant 3, mandibulofacial dysostosis-microcephaly syndrome, multiple endocrine neoplasia type 4, juvenile cataract-microcornea-renal glucosuria syndrome, Crouzon syndrome-acanthosis nigricans syndrome, Birk-Barel syndrome, thrombophilia due to protein S deficiency, autosomal dominant, dyskeratosis congenita, autosomal dominant 2, dyskeratosis congenita, autosomal dominant 3, colorectal cancer, hereditary nonpolyposis, type 6, colorectal cancer, hereditary nonpolyposis, type 7, brain small vessel disease 2A, autosomal dominant, intellectual disability, autosomal dominant 14, intellectual disability, autosomal dominant 15, intellectual disability, autosomal dominant 16, hypopigmentation-punctate palmoplantar keratoderma syndrome, intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, intellectual disability, autosomal dominant 29, Houge-Janssens syndrome 2, severe achondroplasia-developmental delay-acanthosis nigricans syndrome, dyskeratosis congenita, autosomal dominant 6, epidermolysis bullosa simplex 6, generalized, with scarring and hair loss, autosomal dominant complex spastic paraplegia, early-onset autosomal dominant Alzheimer disease, muscular dystrophy, limb-girdle, autosomal dominant, Feingold syndrome, Carney complex, neuronopathy, distal hereditary motor, autosomal dominant, autosomal dominant coarctation of aorta, autosomal dominant spondylocostal dysostosis, autosomal dominant hypohidrotic ectodermal dysplasia, Cowden disease, autosomal dominant distal myopathy, autosomal dominant rhegmatogenous retinal detachment, palmoplantar keratoderma-spastic paralysis syndrome, Alagille syndrome due to a JAG1 point mutation, PTEN hamartoma tumor syndrome, gastric adenocarcinoma and proximal polyposis of the stomach, autosomal dominant proximal renal tubular acidosis, autosomal dominant spastic ataxia, Waardenburg syndrome, hereditary retinoblastoma, autosomal dominant hypocalcemia, Li-Fraumeni syndrome, Loeys-Dietz syndrome, hereditary hemorrhagic telangiectasia, hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome, microcephalic osteodysplastic dysplasia, Saul-Wilson type, autosomal dominant intermediate Charcot-Marie-Tooth disease, autosomal dominant cutis laxa, autosomal dominant nonsyndromic hearing loss, autosomal dominant optic atrophy, autosomal dominant Emery-Dreifuss muscular dystrophy, autosomal dominant cerebellar ataxia, autosomal dominant osteopetrosis, autosomal dominant epidermolytic ichthyosis, ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, distal arthrogryposis type 2B1, neurofibromatosis, autosomal dominant cataract, arthrogryposis, distal, type 2B2, arthrogryposis, distal, type 2B3, Charcot-Marie-Tooth disease, demyelinating, type 1G, Delpire-McNeill syndrome, LAMA5-related multisystemic syndrome, autosomal dominant oculocutaneous albinism, Charcot-Marie-tooth disease, axonal, type 2DD, Pilarowski-Bjornsson syndrome, intellectual disability, autosomal dominant, fatty acyl-CoA reductase 1 upregulation, GUCY2D-related dominant retinopathy, RPE65-related dominant retinopathy, autosomal dominant titinopathy, NOG-related symphalangism spectrum disorder, ALPL-related autosomal dominant hypophosphatasia, MYH10-related neurodevelopmental disorder with congenital anomalies, spastic paraplegia 30A, autosomal dominant, TMEM127-related tumor predisposition, MAX-related tumor predisposition, BMPR1A-related juvenile polyposis syndrome, RP1-related dominant retinopathy, Birt-Hogg-Dube syndrome, inclusion body myopathy and brain white matter abnormalities, KINSSHIP syndrome, autosomal dominant nebulin-related myopathy, IMPG1-related dominant retinopathy, PROM1-related dominant retinopathy, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, ALG8-related autosomal dominant polycystic kidney and/or liver disease, NOTCH1-related AOS spectrum disorder, FLNB-associated autosomal dominant filamin related bone disorder, familial antiphospholipid syndrome
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
91 retrieved; paginated sample, class counts are floors:
31 uncertain significance, 24 likely pathogenic, 22 pathogenic, 5 benign, 5 pathogenic/likely pathogenic, 2 conflicting classifications of pathogenicity, 1 benign/likely benign, 1 not provided
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 4819222 | Single allele | LOC111589206 | Pathogenic | criteria provided, single submitter |
| 157553 | NM_001370100.5(ZMYND11):c.1246_1247del (p.Glu416fs) | LOC126860802 | Pathogenic | no assertion criteria provided |
| 1704323 | NM_001370100.5(ZMYND11):c.1573dup (p.Asp525fs) | LOC126860802 | Pathogenic | no assertion criteria provided |
| 3068340 | NM_001370100.5(ZMYND11):c.1483C>T (p.Arg495Ter) | LOC126860802 | Pathogenic | criteria provided, single submitter |
| 871341 | NM_001370100.5(ZMYND11):c.1317_1320del (p.Thr440fs) | LOC126860802 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 1064579 | NM_001370100.5(ZMYND11):c.1687-1G>A | ZMYND11 | Pathogenic | criteria provided, single submitter |
| 1064584 | NM_001370100.5(ZMYND11):c.1129del (p.Ser377fs) | ZMYND11 | Pathogenic | criteria provided, single submitter |
| 1064646 | NM_001370100.5(ZMYND11):c.709C>T (p.Gln237Ter) | ZMYND11 | Pathogenic | criteria provided, single submitter |
| 1209429 | NM_001370100.5(ZMYND11):c.744_745del (p.Cys249fs) | ZMYND11 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 1335032 | NM_001370100.5(ZMYND11):c.1769G>A (p.Trp590Ter) | ZMYND11 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 157551 | NM_001370100.5(ZMYND11):c.206dup (p.Thr70fs) | ZMYND11 | Pathogenic | criteria provided, single submitter |
| 157552 | NM_001370100.5(ZMYND11):c.976C>T (p.Gln326Ter) | ZMYND11 | Pathogenic | no assertion criteria provided |
| 157554 | NM_001370100.5(ZMYND11):c.561del (p.Met187fs) | ZMYND11 | Pathogenic | no assertion criteria provided |
| 1704321 | NM_001370100.5(ZMYND11):c.630C>G (p.Tyr210Ter) | ZMYND11 | Pathogenic | criteria provided, single submitter |
| 1704322 | NM_001370100.5(ZMYND11):c.1089G>A (p.Trp363Ter) | ZMYND11 | Pathogenic | no assertion criteria provided |
| 1704324 | NM_001370100.5(ZMYND11):c.1756C>T (p.Gln586Ter) | ZMYND11 | Pathogenic | no assertion criteria provided |
| 208648 | NM_001370100.5(ZMYND11):c.1798C>T (p.Arg600Trp) | ZMYND11 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 2503414 | NM_001370100.5(ZMYND11):c.876_882del (p.Phe293fs) | ZMYND11 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 3369996 | NM_001370100.5(ZMYND11):c.912_915del (p.Asn304fs) | ZMYND11 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 3773685 | NM_001370100.5(ZMYND11):c.121_122del (p.Met41fs) | ZMYND11 | Pathogenic | criteria provided, single submitter |
| 3897871 | NM_001370100.5(ZMYND11):c.127C>T (p.Arg43Ter) | ZMYND11 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 393552 | NM_001370100.5(ZMYND11):c.22C>T (p.Arg8Ter) | ZMYND11 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 431092 | NM_001370100.5(ZMYND11):c.383del (p.Ser128fs) | ZMYND11 | Pathogenic | criteria provided, single submitter |
| 431123 | NM_001370100.5(ZMYND11):c.76C>T (p.Arg26Trp) | ZMYND11 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 451936 | NM_001370100.5(ZMYND11):c.82C>T (p.Gln28Ter) | ZMYND11 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 504175 | NM_001370100.5(ZMYND11):c.737_738del (p.Lys246fs) | ZMYND11 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 520843 | NM_001370100.5(ZMYND11):c.1072C>T (p.Arg358Ter) | ZMYND11 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 2580931 | NM_001366521.1(ATP2B1):c.2959G>T (p.Glu987Ter) | ATP2B1 | Likely pathogenic | criteria provided, single submitter |
| 1029064 | NM_001370100.5(ZMYND11):c.1255A>C (p.Ser419Arg) | LOC126860802 | Likely pathogenic | criteria provided, single submitter |
| 1064578 | NM_001370100.5(ZMYND11):c.1581dup (p.Cys528fs) | LOC126860802 | Likely pathogenic | criteria provided, single submitter |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 5 · Orphanet: 3 · 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 |
|---|---|---|---|---|
| ZMYND11 | Strong | Autosomal dominant | intellectual disability, autosomal dominant 30 | 5 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| ZMYND11 | Orphanet:687424 | ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion |
| ZMYND11 | Orphanet:694308 | ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation |
| ATP2B1 | Orphanet:528084 | Non-specific syndromic intellectual disability |
Cohort genes → proteins
2 cohort genes, 2 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 2 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| ZMYND11 | HGNC:16966 | ENSG00000015171 | Q15326 | Zinc finger MYND domain-containing protein 11 | gencc,clinvar |
| ATP2B1 | HGNC:814 | ENSG00000070961 | P20020 | Plasma membrane calcium-transporting ATPase 1 | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| ZMYND11 | Zinc finger MYND domain-containing protein 11 | Chromatin reader that specifically recognizes and binds histone H3.3 trimethylated at ‘Lys-36’ (H3.3K36me3) and regulates RNA polymerase II elongation. |
| ATP2B1 | Plasma membrane calcium-transporting ATPase 1 | Catalyzes the hydrolysis of ATP coupled with the transport of calcium from the cytoplasm to the extracellular space thereby maintaining intracellular calcium homeostasis. |
Protein-family classification
Druggable: 0 · Difficult: 2 · 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 | 2 | 8.3× | 0.015 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| ZMYND11 | Transcription factor | no | PWWP_dom, Bromodomain, Znf_PHD | |
| ATP2B1 | Transcription factor | no | 7.2.2.10 | P_typ_ATPase, ATPase_P-typ_cation-transptr_N, ATPase_P-typ_cation-transptr_C |
Expression context
Cohort genes with no expression data: 0.
2 cohort genes 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) | 2 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| caput epididymis | 1 |
| cauda epididymis | 1 |
| cranial nerve II | 1 |
| Brodmann (1909) area 23 | 1 |
| frontal pole | 1 |
| lateral nuclear group of thalamus | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| ZMYND11 | 301 | ubiquitous | marker | cranial nerve II, caput epididymis, cauda epididymis |
| ATP2B1 | 296 | ubiquitous | marker | frontal pole, Brodmann (1909) area 23, lateral nuclear group of thalamus |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| ATP2B1 | 3,055 |
| ZMYND11 | 1,264 |
Structural data
PDB: 2 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| ZMYND11 | Q15326 | 8 |
| ATP2B1 | P20020 | 1 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 13. Enrichment computed across 2 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 |
|---|---|---|---|---|
| Reduction of cytosolic Ca++ levels | 1 | 951.7× | 0.009 | ATP2B1 |
| Platelet calcium homeostasis | 1 | 713.8× | 0.009 | ATP2B1 |
| Sensory processing of sound | 1 | 308.6× | 0.011 | ATP2B1 |
| Platelet homeostasis | 1 | 278.5× | 0.011 | ATP2B1 |
| Ion transport by P-type ATPases | 1 | 207.6× | 0.011 | ATP2B1 |
| Ion homeostasis | 1 | 203.9× | 0.011 | ATP2B1 |
| Sensory processing of sound by inner hair cells of the cochlea | 1 | 163.1× | 0.011 | ATP2B1 |
| Cardiac conduction | 1 | 108.8× | 0.014 | ATP2B1 |
| Ion channel transport | 1 | 96.0× | 0.014 | ATP2B1 |
| Sensory Perception | 1 | 95.2× | 0.014 | ATP2B1 |
| Muscle contraction | 1 | 77.2× | 0.015 | ATP2B1 |
| Hemostasis | 1 | 36.0× | 0.030 | ATP2B1 |
| Transport of small molecules | 1 | 25.1× | 0.040 | ATP2B1 |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 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 vascular associated smooth muscle contraction | 1 | 1685.2× | 0.006 | ATP2B1 |
| calcium ion export across plasma membrane | 1 | 1404.3× | 0.006 | ATP2B1 |
| regulation of cellular response to insulin stimulus | 1 | 766.0× | 0.007 | ATP2B1 |
| negative regulation of cytosolic calcium ion concentration | 1 | 648.1× | 0.007 | ATP2B1 |
| regulation of cardiac conduction | 1 | 421.3× | 0.007 | ATP2B1 |
| regulation of transcription elongation by RNA polymerase II | 1 | 401.2× | 0.007 | ZMYND11 |
| positive regulation of calcium ion transport | 1 | 290.6× | 0.008 | ATP2B1 |
| negative regulation of JNK cascade | 1 | 280.9× | 0.008 | ZMYND11 |
| negative regulation of cytokine production | 1 | 255.3× | 0.008 | ATP2B1 |
| negative regulation of extrinsic apoptotic signaling pathway | 1 | 210.7× | 0.008 | ZMYND11 |
| positive regulation of bone mineralization | 1 | 195.9× | 0.008 | ATP2B1 |
| regulation of cytosolic calcium ion concentration | 1 | 191.5× | 0.008 | ATP2B1 |
| regulation of signal transduction | 1 | 133.8× | 0.010 | ZMYND11 |
| regulation of blood pressure | 1 | 110.9× | 0.012 | ATP2B1 |
| monoatomic ion transmembrane transport | 1 | 104.0× | 0.012 | ATP2B1 |
| negative regulation of canonical NF-kappaB signal transduction | 1 | 86.0× | 0.013 | ZMYND11 |
| defense response to virus | 1 | 34.7× | 0.030 | ZMYND11 |
| negative regulation of DNA-templated transcription | 1 | 15.8× | 0.062 | ZMYND11 |
Therapeutics
Drug target analysis
Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 2
Druggability breadth: 1 of 2 evidence-associated genes (50%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| ZMYND11 | 0 | 0 |
| ATP2B1 | 0 | 0 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 1.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| ZMYND11 | 1 | Binding:1 |
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|---|---|
| ATP2B1 | 7.2.2.10 | P-type Ca2+ transporter |
Pharmacogenomics
Cohort genes with a PharmGKB record: 2; 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 | 2 | ZMYND11, ATP2B1 |
Undrugged target profiles
2 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| ZMYND11 | 1 | — |
| ATP2B1 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.