Short stature-brachydactyly-obesity-global developmental delay syndrome

Summary

Short stature-brachydactyly-obesity-global developmental delay syndrome (MONDO:0014944) is a disease caused by PRMT7 (GenCC Strong), with 1 cohort gene.

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Causal gene: PRMT7 (GenCC Strong)
• Cohort genes: 1
• ClinVar variants: 66
• Phenotypes (HPO): 45

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		6	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

45 HPO clinical features (Orphanet curated; top 45 by frequency):

HPO ID	Term	Frequency
HP:0000233	Thin vermilion border	Very frequent (80-99%)
HP:0000343	Long philtrum	Very frequent (80-99%)
HP:0000490	Deeply set eye	Very frequent (80-99%)
HP:0000924	Abnormality of the skeletal system	Very frequent (80-99%)
HP:0001156	Brachydactyly	Very frequent (80-99%)
HP:0001249	Intellectual disability	Very frequent (80-99%)
HP:0001263	Global developmental delay	Very frequent (80-99%)
HP:0001999	Abnormal facial shape	Very frequent (80-99%)
HP:0004689	Short fourth metatarsal	Very frequent (80-99%)
HP:0008947	Floppy infant	Very frequent (80-99%)
HP:0000028	Cryptorchidism	Frequent (30-79%)
HP:0000212	Gingival overgrowth	Frequent (30-79%)
HP:0000316	Hypertelorism	Frequent (30-79%)
HP:0000457	Depressed nasal ridge	Frequent (30-79%)
HP:0000463	Anteverted nares	Frequent (30-79%)
HP:0000470	Short neck	Frequent (30-79%)
HP:0000486	Strabismus	Frequent (30-79%)
HP:0000964	Eczematoid dermatitis	Frequent (30-79%)
HP:0001250	Seizure	Frequent (30-79%)
HP:0001256	Intellectual disability, mild	Frequent (30-79%)
HP:0001328	Specific learning disability	Frequent (30-79%)
HP:0001513	Obesity	Frequent (30-79%)
HP:0010864	Intellectual disability, severe	Frequent (30-79%)
HP:0011220	Prominent forehead	Frequent (30-79%)
HP:0012368	Flat face	Frequent (30-79%)
HP:0012443	Abnormality of brain morphology	Frequent (30-79%)
HP:0000076	Vesicoureteral reflux	Occasional (5-29%)
HP:0000089	Renal hypoplasia	Occasional (5-29%)
HP:0000252	Microcephaly	Occasional (5-29%)
HP:0000278	Retrognathia	Occasional (5-29%)
HP:0000384	Preauricular skin tag	Occasional (5-29%)
HP:0000407	Sensorineural hearing impairment	Occasional (5-29%)
HP:0000589	Coloboma	Occasional (5-29%)
HP:0000592	Blue sclerae	Occasional (5-29%)
HP:0000620	Dacryocystitis	Occasional (5-29%)
HP:0000818	Abnormality of the endocrine system	Occasional (5-29%)
HP:0000852	Pseudohypoparathyroidism	Occasional (5-29%)
HP:0001601	Laryngomalacia	Occasional (5-29%)
HP:0002079	Hypoplasia of the corpus callosum	Occasional (5-29%)
HP:0002342	Intellectual disability, moderate	Occasional (5-29%)
HP:0003065	Patellar hypoplasia	Occasional (5-29%)
HP:0007074	Thick corpus callosum	Occasional (5-29%)
HP:0010535	Sleep apnea	Occasional (5-29%)
HP:0011968	Feeding difficulties	Occasional (5-29%)
HP:0031938	Abnormal conus terminalis morphology	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	short stature-brachydactyly-obesity-global developmental delay syndrome
Mondo ID	MONDO:0014944
OMIM	617157
Orphanet	464288
UMLS	C4310689
MedGen	934656
GARD	0017817
Is cancer (heuristic)	no

Also known as: SBIDDS · short stature, brachydactyly, intellectual developmental disability, and seizures

Data availability: 66 ClinVar variants · 3 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › congenital nervous system disorder › short stature-brachydactyly-obesity-global developmental delay syndrome

Related subtypes (216): polymicrogyria, congenital myasthenic syndrome with tubular aggregates, prenatal-onset spinal muscular atrophy with congenital bone fractures, anencephaly, cerebral cavernous malformation, meningocele, progressive external ophthalmoplegia, congenital nystagmus, congenital toxoplasmosis, congenital contractural arachnodactyly, congenital trigeminal anesthesia, familial congenital palsy of trochlear nerve, Myhre syndrome, Aase-Smith syndrome, KBG syndrome, autosomal dominant primary microcephaly, Mobius syndrome, MYH7-related skeletal myopathy, congenital stationary night blindness autosomal dominant 2, Prader-Willi syndrome, congenital myopathy 7A, myosin storage, autosomal dominant, Smith-Magenis syndrome, spina bifida, Freeman-Sheldon syndrome, isolated cerebellar hypoplasia/agenesis, Chediak-Higashi syndrome, Cohen syndrome, multiple pterygium-malignant hyperthermia syndrome, corpus callosum, agenesis of, congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome, diastematomyelia, EEM syndrome, Mowat-Wilson syndrome, Johanson-Blizzard syndrome, intellectual disability, Buenos-Aires type, myasthenia, congenital, refractory to acetylcholinesterase inhibitors, congenital myasthenic syndrome 6, Bailey-Bloch congenital myopathy, congenital stationary night blindness 1B, radioulnar synostosis-developmental delay-hypotonia syndrome, Schinzel-Giedion syndrome, schizencephaly, intellectual disability, Wolff type, X-linked intellectual disability-plagiocephaly syndrome, X-linked adrenal hypoplasia congenita, syndromic X-linked intellectual disability 7, syndromic X-linked intellectual disability Shashi type, syndromic X-linked intellectual disability Lubs type, syndromic X-linked intellectual disability Abidi type, syndromic X-linked intellectual disability Siderius type, X-linked intellectual disability, Cabezas type, X-linked intellectual disability-cubitus valgus-dysmorphism syndrome, syndromic X-linked intellectual disability Claes-Jensen type, moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome, multiple congenital anomalies-hypotonia-seizures syndrome 2, developmental and epileptic encephalopathy, 36, blepharophimosis - intellectual disability syndrome, MKB type, X-linked intellectual disability-short stature-overweight syndrome, intellectual disability, X-linked, syndromic 33, syndromic X-linked intellectual disability 34, infantile-onset X-linked spinal muscular atrophy, syndromic X-linked intellectual disability 5, holoprosencephaly-hypokinesia-congenital contractures syndrome, X-linked intellectual disability with marfanoid habitus, Wieacker-Wolff syndrome, MERRF syndrome, macrocephaly-spastic paraplegia-dysmorphism syndrome, intellectual disability-sparse hair-brachydactyly syndrome, myofibrillar myopathy 1, isolated hereditary congenital facial paralysis, fibrosis of extraocular muscles, congenital, 2, Pierpont syndrome, congenital cataracts-facial dysmorphism-neuropathy syndrome, Bohring-Opitz syndrome, PHACE syndrome, B4GALT1-congenital disorder of glycosylation, developmental malformations-deafness-dystonia syndrome, sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, AICA-ribosiduria, myofibrillar myopathy 3, fibrosis of extraocular muscles, congenital, 3c, myofibrillar myopathy 4, myofibrillar myopathy 5, cone-rod synaptic disorder, congenital nonprogressive, congenital stationary night blindness autosomal dominant 3, congenital stationary night blindness autosomal dominant 1, intellectual disability, autosomal recessive 12, progressive myoclonic epilepsy type 3, chromosome 15q13.3 microdeletion syndrome, combined pituitary hormone deficiencies, genetic form, congenital stationary night blindness 1D, DYRK1A-related intellectual disability syndrome, Pitt-Hopkins-like syndrome 2, developmental and epileptic encephalopathy, 15, Schuurs-Hoeijmakers syndrome, severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, severe intellectual disability-progressive spastic diplegia syndrome, hypotonia, infantile, with psychomotor retardation and characteristic facies, developmental and epileptic encephalopathy, 18, CTCF-related neurodevelopmental disorder, autism spectrum disorder due to AUTS2 deficiency, developmental and epileptic encephalopathy, 23, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, Bardet-Biedl syndrome 11, cerebellar-facial-dental syndrome, fibrosis of extraocular muscles, congenital, 5, congenital myasthenic syndrome 15, lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, congenital myasthenic syndrome 18, autosomal recessive spinocerebellar ataxia 20, Houge-Janssens syndrome 1, intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, congenital stationary night blindness 1G, hypomyelinating leukodystrophy 10, developmental and epileptic encephalopathy, 50, congenital insensitivity to pain-hypohidrosis syndrome, macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, SLC39A8-CDG, spastic paraplegia-severe developmental delay-epilepsy syndrome, cardiac anomalies - developmental delay - facial dysmorphism syndrome, severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome, intellectual disability, autosomal recessive 53, TELO2-related intellectual disability-neurodevelopmental disorder, micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, autosomal recessive limb-girdle muscular dystrophy type 2Y, myofibrillar myopathy 7, autosomal recessive limb-girdle muscular dystrophy type 2R1, severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome, congenital laryngeal palsy, congenital or early infantile CACH syndrome, congenital epulis, severe congenital nemaline myopathy, intermediate nemaline myopathy, typical nemaline myopathy, childhood-onset nemaline myopathy, adult-onset nemaline myopathy, qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan, holoprosencephaly, congenital insensitivity to pain with hyperhidrosis, congenital hydrocephalus, familial congenital mirror movements, macrocephaly-short stature-paraplegia syndrome, cephalocele, mitochondrial neurogastrointestinal encephalomyopathy, X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome, 7p22.1 microduplication syndrome, congenital achiasma, congenital retinal arteriovenous communication, 3q27.3 microdeletion syndrome, Prader-Willi-like syndrome, 9q31.1q31.3 microdeletion syndrome, congenital oculomotor nerve palsy, congenital abducens nerve palsy, neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome, congenital insensitivity to pain with severe intellectual disability, X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome, global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome, lissencephaly spectrum disorders, hyaline body myopathy, 22q11.2 deletion syndrome, craniorachischisis, Leber congenital amaurosis, Ritscher-Schinzel syndrome, Rubinstein-Taybi syndrome, X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome, X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome, X-linked intellectual disability, Pai type, X-linked intellectual disability, Stevenson type, X-linked intellectual disability, Stoll type, congenital muscular dystrophy, congenital vitreoretinal dysplasia, periventricular nodular heterotopia, postsynaptic congenital myasthenic syndrome, subcortical band heterotopia, congenital fibrosis of extraocular muscles type 1, Al Gazali Khidr Prem Chandran syndrome, distal arthrogryposis Moore weaver type, congenital myotonic dystrophy, myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive, intellectual disability, autosomal dominant 47, intellectual disability, autosomal dominant 48, spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis, myasthenic syndrome, congenital, 23, presynaptic, myasthenic syndrome, congenital, 24, presynaptic, myasthenic syndrome, congenital, 25, presynaptic, developmental and epileptic encephalopathy, 77, night blindness, congenital stationary, type1i, neuropathy, congenital hypomelinating, congenital axonal neuropathy with encephalopathy, developmental and epileptic encephalopathy, 73, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, isolated exencephaly, myasthenic syndrome, congenital, 22, intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 9q33.3q34.11 microdeletion syndrome, congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome, early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, SIN3A-related intellectual disability syndrome, childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder, X-linked congenital stationary night blindness, neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, FOXG1 disorder, alpha-actinopathy, TPM3-related myopathy, X-linked recessive mitochondrial myopathy, RYR1-related myopathy, TTN-related myopathy, TPM2-related myopathy, myopathy caused by variation in POMGNT1, central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, segmental spinal dysgenesis, myopathy, myofibrillar, 13, with rimmed vacuoles, congenital neuronal ceroid lipofuscinosis 10

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

66 retrieved; paginated sample, class counts are floors:

19 uncertain significance, 17 likely pathogenic, 16 pathogenic, 6 conflicting classifications of pathogenicity, 5 benign, 3 pathogenic/likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
1098280	NM_019023.5(PRMT7):c.622del (p.Gln208fs)	PRMT7	Pathogenic	criteria provided, single submitter
1119980	NM_019023.5(PRMT7):c.1097G>A (p.Cys366Tyr)	PRMT7	Pathogenic	criteria provided, single submitter
1323497	NM_019023.5(PRMT7):c.98C>A (p.Ser33Ter)	PRMT7	Pathogenic	criteria provided, single submitter
2577129	NM_019023.5(PRMT7):c.967C>T (p.Gln323Ter)	PRMT7	Pathogenic	criteria provided, multiple submitters, no conflicts
266020	NM_019023.5(PRMT7):c.1276-1G>A	PRMT7	Pathogenic	no assertion criteria provided
266024	NM_019023.5(PRMT7):c.1056-1G>T	PRMT7	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
3069131	NM_019023.5(PRMT7):c.1168C>T (p.Arg390Ter)	PRMT7	Pathogenic	criteria provided, multiple submitters, no conflicts
3236051	NM_019023.5(PRMT7):c.1173C>G (p.Tyr391Ter)	PRMT7	Pathogenic	criteria provided, single submitter
3254663	NM_019023.5(PRMT7):c.1678del (p.Glu560fs)	PRMT7	Pathogenic	criteria provided, single submitter
3366822	NM_019023.5(PRMT7):c.477T>A (p.Tyr159Ter)	PRMT7	Pathogenic	criteria provided, multiple submitters, no conflicts
3775502	NM_019023.5(PRMT7):c.82C>T (p.Gln28Ter)	PRMT7	Pathogenic	criteria provided, single submitter
3893271	NM_019023.5(PRMT7):c.1105C>T (p.Gln369Ter)	PRMT7	Pathogenic	criteria provided, single submitter
427216	NC_000016.9:g.68345747_68361056del	PRMT7	Pathogenic	no assertion criteria provided
4685006	NM_019023.5(PRMT7):c.2008del (p.Tyr670fs)	PRMT7	Pathogenic	criteria provided, single submitter
522559	NM_019023.5(PRMT7):c.431_432del (p.Glu144fs)	PRMT7	Pathogenic	criteria provided, single submitter
522593	NM_019023.5(PRMT7):c.1239_1246dup (p.Val416fs)	PRMT7	Pathogenic	criteria provided, multiple submitters, no conflicts
523434	NM_019023.5(PRMT7):c.1713C>A (p.Cys571Ter)	PRMT7	Pathogenic	criteria provided, multiple submitters, no conflicts
523435	NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter)	PRMT7	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
585047	NM_019023.5(PRMT7):c.820C>T (p.Arg274Ter)	PRMT7	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1098281	NM_019023.5(PRMT7):c.927G>T (p.Gln309His)	PRMT7	Likely pathogenic	criteria provided, single submitter
1332826	NM_019023.5(PRMT7):c.457dup (p.Glu153fs)	PRMT7	Likely pathogenic	criteria provided, single submitter
1334191	NM_019023.5(PRMT7):c.347T>A (p.Ile116Asn)	PRMT7	Likely pathogenic	no assertion criteria provided
1693267	NM_019023.5(PRMT7):c.1220G>A (p.Cys407Tyr)	PRMT7	Likely pathogenic	no assertion criteria provided
1693268	NM_019023.5(PRMT7):c.1323+2T>G	PRMT7	Likely pathogenic	no assertion criteria provided
1878579	NM_019023.5(PRMT7):c.1335_1338dup (p.His447Ter)	PRMT7	Likely pathogenic	criteria provided, single submitter
266022	NM_019023.5(PRMT7):c.95G>C (p.Arg32Thr)	PRMT7	Likely pathogenic	criteria provided, single submitter
266023	NM_019023.5(PRMT7):c.1159A>G (p.Arg387Gly)	PRMT7	Likely pathogenic	criteria provided, single submitter
3065762	NM_019023.5(PRMT7):c.282+1G>A	PRMT7	Likely pathogenic	criteria provided, single submitter
3220889	NM_019023.5(PRMT7):c.937C>T (p.His313Tyr)	PRMT7	Likely pathogenic	criteria provided, single submitter
3362251	NM_019023.5(PRMT7):c.1283C>G (p.Thr428Arg)	PRMT7	Likely pathogenic	criteria provided, single submitter

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
PRMT7	Strong	Autosomal recessive	short stature-brachydactyly-obesity-global developmental delay syndrome	3

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
PRMT7	Orphanet:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome

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
PRMT7	HGNC:25557	ENSG00000132600	Q9NVM4	Protein arginine N-methyltransferase 7	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
PRMT7	Protein arginine N-methyltransferase 7	Arginine methyltransferase that can both catalyze the formation of omega-N monomethylarginine (MMA) and symmetrical dimethylarginine (sDMA), with a preference for the formation of MMA.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

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
Enzyme (other)	1	12.0×	0.083

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
PRMT7	Enzyme (other)	yes	2.1.1.321	MeTrfase_PRMT7, Arg_MeTrfase, SAM-dependent_MTases_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
cerebellar cortex	1
cerebellar hemisphere	1
right hemisphere of cerebellum	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
PRMT7	186	ubiquitous	marker	right hemisphere of cerebellum, cerebellar hemisphere, cerebellar cortex

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
PRMT7	2,036

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
PRMT7	Q9NVM4	93.19

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 3. 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
RMTs methylate histone arginines	1	146.4×	0.014	PRMT7
Chromatin organization	1	81.6×	0.014	PRMT7
Chromatin modifying enzymes	1	72.3×	0.014	PRMT7

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
peptidyl-arginine methylation	1	4213.0×	0.001	PRMT7
genomic imprinting	1	991.3×	0.003	PRMT7
spliceosomal snRNP assembly	1	581.1×	0.003	PRMT7
chromatin remodeling	1	73.0×	0.017	PRMT7
regulation of DNA-templated transcription	1	31.6×	0.032	PRMT7

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 0

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
PRMT7	1	3

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
ADEMETIONINE	3	PRMT7

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
PRMT7	100	Binding:98, Functional:2

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
PRMT7	2.1.1.321	type III protein arginine methyltransferase

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
PRMT7	100

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

1 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.

Compound	Max phase	Cohort target (bioactivity)
ADEMETIONINE	3	PRMT7

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	1	PRMT7
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	0

Undrugged target profiles

0 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Clinical trials & evidence

Clinical trials

Clinical trials: 0.