Autosomal recessive omodysplasia
diseaseOn this page
Also known as micromelic dysplasia congenita with dislocation of radiusmicromelic dysplasia-dislocation of radius syndromeOMOD1omodysplasia 1omodysplasia autosomal recessiveomodysplasia generalised formomodysplasia generalized formomodysplasia type 1omodysplasia, autosomal recessiveomodysplasia, generalised form
Summary
Autosomal recessive omodysplasia (MONDO:0009779) is a disease caused by GPC6 (GenCC Strong), with 2 cohort genes.
At a glance
- Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
- Causal gene: GPC6 (GenCC Strong)
- Cohort genes: 2
- ClinVar variants: 132
- Phenotypes (HPO): 24
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 23 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
24 HPO clinical features (Orphanet curated; top 24 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000343 | Long philtrum | Very frequent (80-99%) |
| HP:0000358 | Posteriorly rotated ears | Very frequent (80-99%) |
| HP:0000369 | Low-set ears | Very frequent (80-99%) |
| HP:0000463 | Anteverted nares | Very frequent (80-99%) |
| HP:0000944 | Abnormal metaphysis morphology | Very frequent (80-99%) |
| HP:0002007 | Frontal bossing | Very frequent (80-99%) |
| HP:0002818 | Abnormal morphology of the radius | Very frequent (80-99%) |
| HP:0003042 | Elbow dislocation | Very frequent (80-99%) |
| HP:0004322 | Short stature | Very frequent (80-99%) |
| HP:0005025 | Hypoplastic distal humeri | Very frequent (80-99%) |
| HP:0005280 | Depressed nasal bridge | Very frequent (80-99%) |
| HP:0008905 | Rhizomelia | Very frequent (80-99%) |
| HP:0000028 | Cryptorchidism | Frequent (30-79%) |
| HP:0000347 | Micrognathia | Frequent (30-79%) |
| HP:0002823 | Abnormality of femur morphology | Frequent (30-79%) |
| HP:0002983 | Micromelia | Frequent (30-79%) |
| HP:0003027 | Mesomelia | Frequent (30-79%) |
| HP:0001059 | Pterygium | Occasional (5-29%) |
| HP:0001249 | Intellectual disability | Occasional (5-29%) |
| HP:0001363 | Craniosynostosis | Occasional (5-29%) |
| HP:0003196 | Short nose | Occasional (5-29%) |
| HP:0010880 | Increased nuchal translucency | Occasional (5-29%) |
| HP:0030680 | Abnormal cardiovascular system morphology | Occasional (5-29%) |
| HP:0100790 | Hernia | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | autosomal recessive omodysplasia |
| Mondo ID | MONDO:0009779 |
| OMIM | 258315 |
| Orphanet | 93329 |
| DOID | DOID:0080844 |
| ICD-11 | 350802889 |
| SNOMED CT | 725166005 |
| UMLS | C1850318 |
| MedGen | 340513 |
| GARD | 0004076 |
| Is cancer (heuristic) | no |
Also known as: autosomal recessive omodysplasia · micromelic dysplasia congenita with dislocation of radius · micromelic dysplasia-dislocation of radius syndrome · OMOD1 · omodysplasia 1 · omodysplasia autosomal recessive · omodysplasia generalised form · omodysplasia generalized form · omodysplasia type 1 · omodysplasia, autosomal recessive · omodysplasia, generalised form
Data availability: 132 ClinVar variants · 5 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 recessive disease › autosomal recessive omodysplasia
Related subtypes (218): immunodeficiency-centromeric instability-facial anomalies syndrome, hypercalcemia, infantile, Ochoa syndrome, autosomal recessive Ehlers-Danlos syndrome, vascular type, hydrolethalus syndrome, 3-M syndrome, isolated hyperchlorhidrosis, dacryocystitis-osteopoikilosis syndrome, Hutchinson-Gilford progeria syndrome, achalasia microcephaly syndrome, acrorenal syndrome, autosomal recessive, beta-ketothiolase deficiency, autosomal recessive Alport syndrome, Alstrom syndrome, microphthalmia with limb anomalies, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Behr syndrome, bifid nose, autosomal recessive, Bloom syndrome, Bowen-Conradi syndrome, camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia, heart defects-limb shortening syndrome, autosomal recessive palmoplantar keratoderma and congenital alopecia, COFS syndrome, craniometaphyseal dysplasia, autosomal recessive, Fraser syndrome, cystic fibrosis, polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly, persistent hyperplastic primary vitreous, autosomal recessive, Donnai-Barrow syndrome, Schöpf-Schulz-Passarge syndrome, cleft lip/palate-ectodermal dysplasia syndrome, Ellis-van Creveld syndrome, Wolcott-Rallison syndrome, autosomal recessive faciodigitogenital syndrome, acromesomelic dysplasia 2B, brittle cornea syndrome, triple-A syndrome, autosomal recessive humeroradial synostosis, multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome, hydrocephalus, nonsyndromic, autosomal recessive 1, autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius, hypertelorism, microtia, facial clefting syndrome, hypoparathyroidism-retardation-dysmorphism syndrome, Vici syndrome, Johanson-Blizzard syndrome, autosomal recessive Kenny-Caffey syndrome, Papillon-Lefevre disease, Haim-Munk syndrome, Laurence-Moon syndrome, Donohue syndrome, lipase deficiency, combined, autosomal recessive familial Mediterranean fever, thiamine-responsive megaloblastic anemia syndrome, cartilage-hair hypoplasia, Nijmegen breakage syndrome, pseudo-TORCH syndrome, Galloway-Mowat syndrome, mulibrey nanism, myotonia congenita, autosomal recessive, Schwartz-Jampel syndrome, proteosome-associated autoinflammatory syndrome, Netherton syndrome, Niemann-Pick disease type A, oculodentodigital dysplasia, autosomal recessive, odonto-onycho-dermal dysplasia, osteoporosis-pseudoglioma syndrome, Shwachman-Diamond syndrome, phenylketonuria, Bjornstad syndrome, Laron syndrome, autosomal recessive polycystic kidney disease, autosomal recessive inherited pseudoxanthoma elasticum, autosomal recessive multiple pterygium syndrome, rapadilino syndrome, short-rib thoracic dysplasia 9 with or without polydactyly, autosomal recessive Robinow syndrome, Sjogren-Larsson syndrome, scapuloperoneal spinal muscular atrophy, autosomal recessive, spondyloepiphyseal dysplasia tarda, autosomal recessive, inherited threoninemia, Pendred syndrome, autosomal recessive spondylocostal dysostosis, Werner syndrome, ABCD syndrome, Naxos disease, autosomal recessive amelia, human HOXA1 syndromes, sickle cell disease, autosomal recessive proximal renal tubular acidosis, hyper-IgM syndrome type 2, temtamy preaxial brachydactyly syndrome, TH-deficient dopa-responsive dystonia, craniosynostosis syndrome, autosomal recessive, Niemann-Pick disease type B, skin fragility-woolly hair-palmoplantar keratoderma syndrome, CoQ-responsive OXPHOS deficiency, familial adenomatous polyposis 2, Pierson syndrome, palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome, cardiomyopathy-hypotonia-lactic acidosis syndrome, PHARC syndrome, Kahrizi syndrome, cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, congenital prothrombin deficiency, immunodeficiency 31B, dyskeratosis congenita, autosomal recessive 2, dyskeratosis congenita, autosomal recessive 3, Nestor-Guillermo progeria syndrome, leukoencephalopathy with calcifications and cysts, mitochondrial pyruvate carrier deficiency, branched-chain keto acid dehydrogenase kinase deficiency, dyskeratosis congenita, autosomal recessive 5, hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, alacrima, achalasia, and intellectual disability syndrome, hyperlipoproteinemia, type 1D, microcephaly and chorioretinopathy 2, congenital stationary night blindness 1G, combined oxidative phosphorylation deficiency 29, hypermanganesemia with dystonia 2, growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, gnb5-related intellectual disability-cardiac arrhythmia syndrome, autosomal recessive spastic paraplegia type 78, autosomal recessive limb-girdle muscular dystrophy, Bardet-Biedl syndrome, autosomal recessive cerebellar ataxia, neuronopathy, distal hereditary motor, autosomal recessive, UV-sensitive syndrome, Ehlers-Danlos syndrome, kyphoscoliotic type 1, Cockayne syndrome, hyperphenylalaninemia due to tetrahydrobiopterin deficiency, leukoencephalopathy-palmoplantar keratoderma syndrome, autosomal recessive hypohidrotic ectodermal dysplasia, Warburg micro syndrome, autosomal recessive primary microcephaly, autosomal recessive progressive external ophthalmoplegia, Meier-Gorlin syndrome, autosomal recessive sideroblastic anemia, autosomal recessive intermediate Charcot-Marie-Tooth disease, Perrault syndrome, autosomal recessive hypophosphatemic rickets, de Barsy syndrome, leukocyte adhesion deficiency, Senior-Loken syndrome, autosomal recessive spastic ataxia, childhood-onset autosomal recessive myopathy with external ophthalmoplegia, autosomal recessive cerebral atrophy, GM3 synthase deficiency, autosomal recessive distal renal tubular acidosis, pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome, autosomal recessive brachyolmia, Aicardi-Goutieres syndrome, homocystinuria without methylmalonic aciduria, Niemann-Pick disease type C, nephronophthisis, autosomal recessive osteopetrosis, peroxisome biogenesis disorder, congenital non-bullous ichthyosiform erythroderma, Seckel syndrome, Usher syndrome, autosomal recessive cutis laxa type 1, autosomal recessive cutis laxa type 2, hearing loss, autosomal recessive, microcephaly, growth restriction, and increased sister chromatid exchange 2, encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1, congenital vertebral-cardiac-renal anomalies syndrome, hair defect with photosensitivity and intellectual disability syndrome, autosomal recessive severe congenital neutropenia, severe combined immunodeficiency due to CARMIL2 deficiency, extraoral halitosis due to methanethiol oxidase deficiency, neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, mitochondrial complex 2 deficiency, nuclear type 3, mitochondrial complex 2 deficiency, nuclear type 4, mismatch repair cancer syndrome, spondyloepimetaphyseal dysplasia with joint laxity, type 3, Kilquist syndrome, Duane anomaly-myopathy-scoliosis syndrome, autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect, immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome, optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome, congenital myopathy with reduced type 2 muscle fibers, NAD(P)HX dehydratase deficiency, autosomal recessive ocular albinism, ichthyosis linearis circumflexa, eosinophil peroxidase deficiency, hyperphenylalaninemia due to DNAJC12 deficiency, autosomal recessive epidermolytic ichthyosis, Ehlers-Danlos syndrome, classic-like, 2, joint laxity, short stature, and myopia, HELIX syndrome, auditory neuropathy-optic atrophy syndrome, glycosylphosphatidylinositol biosynthesis defect 15, neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, SCN4A-related myopathy, autosomal recessive, Uner Tan Syndrome, nephropathic cystinosis, Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome type 2, permanent neonatal diabetes mellitus 1, growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Rajab interstitial lung disease with brain calcifications 1, Roberts-SC phocomelia syndrome, neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, RPE65-related recessive retinopathy, GUCY2D-related recessive retinopathy, autosomal recessive titinopathy, intellectual disability, autosomal recessive, ALPL-related autosomal recessive hypophosphatasia, spastic paraplegia 18b, autosomal recessive, CEP164-related ciliopathy, RP1-related recessive retinopathy, pseudohypoaldosteronism, type IB2, autosomal recessive, pseudohypoaldosteronism, type IB3, autosomal recessive, spastic paraplegia 30B, autosomal recessive, cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1, brain small vessel disease 2B, autosomal recessive, IMPG1-related recessive retinopathy, PROM1-related recessive retinopathy
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
132 retrieved; paginated sample, class counts are floors:
85 uncertain significance, 29 benign, 7 pathogenic, 5 likely benign, 4 conflicting classifications of pathogenicity, 2 benign/likely benign
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 5549 | NM_005708.5(GPC6):c.778del (p.Leu260fs) | GPC6 | Pathogenic | no assertion criteria provided |
| 5550 | NC_000013.11:g.93997007_94063501del66495insATAAATCACTTAGAGATGT | GPC6 | Pathogenic | no assertion criteria provided |
| 5551 | NC_000013.11:g.94252984_94352299del99316insCTA | GPC6 | Pathogenic | no assertion criteria provided |
| 5553 | NM_005708.3(GPC6):c.712_877dup | GPC6 | Pathogenic | no assertion criteria provided |
| 5552 | NM_005708.5(GPC6):c.700C>T (p.Arg234Ter) | GPC6-AS2 | Pathogenic | no assertion criteria provided |
| 5554 | NM_005708.3(GPC6):c.320_711del | GPC6-AS2 | Pathogenic | no assertion criteria provided |
| 5555 | NM_005708.3(GPC6):c.320_711del | GPC6-AS2 | Pathogenic | no assertion criteria provided |
| 312551 | NM_005708.5(GPC6):c.1485A>T (p.Ser495=) | GPC6 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 312553 | NM_005708.5(GPC6):c.1524G>A (p.Thr508=) | GPC6 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 881581 | NM_005708.5(GPC6):c.1289+13C>T | GPC6 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 882731 | NM_005708.5(GPC6):c.1512C>T (p.Asp504=) | GPC6 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1806178 | NM_005708.5(GPC6):c.1228G>A (p.Glu410Lys) | GPC6 | Uncertain significance | criteria provided, single submitter |
| 287156 | NM_005708.5(GPC6):c.1129G>A (p.Ala377Thr) | GPC6 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 3065600 | NM_005708.5(GPC6):c.49C>T (p.Leu17Phe) | GPC6 | Uncertain significance | criteria provided, single submitter |
| 3065690 | NM_005708.5(GPC6):c.1193T>G (p.Val398Gly) | GPC6 | Uncertain significance | criteria provided, single submitter |
| 312530 | NM_005708.5(GPC6):c.-442C>T | GPC6 | Uncertain significance | criteria provided, single submitter |
| 312532 | NM_005708.5(GPC6):c.-307T>A | GPC6 | Uncertain significance | criteria provided, single submitter |
| 312534 | NM_005708.5(GPC6):c.-133G>T | GPC6 | Uncertain significance | criteria provided, single submitter |
| 312535 | NM_005708.5(GPC6):c.-100G>A | GPC6 | Uncertain significance | criteria provided, single submitter |
| 312536 | NM_005708.5(GPC6):c.-69C>T | GPC6 | Uncertain significance | criteria provided, single submitter |
| 312537 | NM_005708.5(GPC6):c.-23G>T | GPC6 | Uncertain significance | criteria provided, single submitter |
| 312538 | NM_005708.5(GPC6):c.49C>A (p.Leu17Ile) | GPC6 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 312539 | NM_005708.5(GPC6):c.161-4G>T | GPC6 | Uncertain significance | criteria provided, single submitter |
| 312540 | NM_005708.5(GPC6):c.585C>T (p.Asp195=) | GPC6 | Uncertain significance | criteria provided, single submitter |
| 312542 | NM_005708.5(GPC6):c.1033A>G (p.Lys345Glu) | GPC6 | Uncertain significance | criteria provided, single submitter |
| 312543 | NM_005708.5(GPC6):c.1088G>A (p.Arg363His) | GPC6 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 312544 | NM_005708.5(GPC6):c.1137A>C (p.Thr379=) | GPC6 | Uncertain significance | criteria provided, single submitter |
| 312545 | NM_005708.5(GPC6):c.1162A>G (p.Ile388Val) | GPC6 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 312546 | NM_005708.5(GPC6):c.1216A>G (p.Ile406Val) | GPC6 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 312552 | NM_005708.5(GPC6):c.1496G>A (p.Ser499Asn) | GPC6 | 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 |
|---|---|---|---|---|
| GPC6 | Strong | Autosomal recessive | autosomal recessive omodysplasia | 5 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| GPC6 | Orphanet:93329 | Autosomal recessive omodysplasia |
Cohort genes → proteins
2 cohort genes, 1 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 2 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| GPC6 | HGNC:4454 | ENSG00000183098 | Q9Y625 | Glypican-6 | gencc,clinvar |
| GPC6-AS2 | HGNC:39910 | ENSG00000224394 | GPC6 antisense RNA 2 | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| GPC6 | Glypican-6 | Cell surface proteoglycan that bears heparan sulfate. |
Protein-family classification
Druggable: 0 · Difficult: 0 · Unknown: 2 · 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 |
|---|---|---|---|
| Other/Unknown | 2 | 1.8× | 0.312 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| GPC6 | Other/Unknown | no | Glypican, Glypican_CS | |
| GPC6-AS2 | Other/Unknown | no |
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) | 2 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| cartilage tissue | 1 |
| tibia | 1 |
| vena cava | 1 |
| adrenal gland | 1 |
| adrenal tissue | 1 |
| male germ line stem cell (sensu Vertebrata) in testis | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| GPC6 | 217 | ubiquitous | marker | cartilage tissue, tibia, vena cava |
| GPC6-AS2 | 81 | yes | male germ line stem cell (sensu Vertebrata) in testis, adrenal tissue, adrenal gland |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| GPC6 | 1,237 |
| GPC6-AS2 | 0 |
Structural data
PDB: 0 · AlphaFold-only: 1 · No structure: 1
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| GPC6 | Q9Y625 | 82.67 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 16. 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 |
|---|---|---|---|---|
| Defective EXT2 causes exostoses 2 | 1 | 815.7× | 0.004 | GPC6 |
| Defective EXT1 causes exostoses 1, TRPS2 and CHDS | 1 | 815.7× | 0.004 | GPC6 |
| Attachment and Entry | 1 | 601.0× | 0.004 | GPC6 |
| Defective B4GALT7 causes EDS, progeroid type | 1 | 571.0× | 0.004 | GPC6 |
| Defective B3GAT3 causes JDSSDHD | 1 | 571.0× | 0.004 | GPC6 |
| Defective B3GALT6 causes EDSP2 and SEMDJL1 | 1 | 571.0× | 0.004 | GPC6 |
| HS-GAG degradation | 1 | 496.5× | 0.004 | GPC6 |
| Respiratory syncytial virus (RSV) attachment and entry | 1 | 496.5× | 0.004 | GPC6 |
| Initiation of coagulation cascade | 1 | 475.8× | 0.004 | GPC6 |
| Glycosaminoglycan-protein linkage region biosynthesis | 1 | 393.8× | 0.004 | GPC6 |
| HS-GAG biosynthesis | 1 | 346.1× | 0.004 | GPC6 |
| Dengue Virus Attachment and Entry | 1 | 259.6× | 0.005 | GPC6 |
| Retinoid metabolism and transport | 1 | 248.3× | 0.005 | GPC6 |
| Regulation of clotting cascade | 1 | 233.1× | 0.005 | GPC6 |
| RSV-host interactions | 1 | 156.4× | 0.007 | GPC6 |
| Dengue Virus-Host Interactions | 1 | 45.7× | 0.022 | GPC6 |
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 neurotransmitter receptor localization to postsynaptic specialization membrane | 1 | 887.0× | 0.003 | GPC6 |
| regulation of signal transduction | 1 | 267.5× | 0.006 | GPC6 |
| cell migration | 1 | 61.5× | 0.016 | GPC6 |
Therapeutics
Drug target analysis
Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 2
Druggability breadth: 0 of 2 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 |
|---|---|---|
| GPC6 | 0 | 0 |
| GPC6-AS2 | 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 | 2 | GPC6, GPC6-AS2 |
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) |
|---|---|---|
| GPC6 | 0 | — |
| GPC6-AS2 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.