Dyskeratosis congenita, autosomal dominant 6

Summary

Dyskeratosis congenita, autosomal dominant 6 (MONDO:0014690) is a disease caused by ACD (GenCC Strong), with 2 cohort genes.

At a glance

• Causal gene: ACD (GenCC Strong)
• Cohort genes: 2
• ClinVar variants: 725

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	dyskeratosis congenita, autosomal dominant 6
Mondo ID	MONDO:0014690
OMIM	616553
DOID	DOID:0070023
NCIT	C176924
UMLS	C4225284
MedGen	904824
GARD	0016136
Is cancer (heuristic)	no

Also known as: DKCA6 · dyskeratosis congenita, autosomal dominant 6 · dyskeratosis congenita, autosomal dominant type 6

Data availability: 725 ClinVar variants · 3 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 › dyskeratosis congenita, autosomal dominant 6

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, intellectual disability, autosomal dominant 30, Houge-Janssens syndrome 2, severe achondroplasia-developmental delay-acanthosis nigricans syndrome, 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

600 retrieved; paginated sample, class counts are floors:

331 uncertain significance, 236 likely benign, 21 conflicting classifications of pathogenicity, 5 benign, 4 benign/likely benign, 1 pathogenic, 1 likely pathogenic, 1 not provided

ClinVar	Variant (HGVS)	Gene	Classification	Review
208983	NM_001082486.2(ACD):c.250_252del (p.Lys84del)	ACD	Pathogenic	criteria provided, single submitter
3250428	NM_001082486.2(ACD):c.152del (p.Thr51fs)	ACD	Likely pathogenic	criteria provided, single submitter
1036684	NM_001082486.2(ACD):c.18G>T (p.Arg6Ser)	ACD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1038926	NM_001082486.2(ACD):c.799G>T (p.Ala267Ser)	ACD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1049325	NM_001082486.2(ACD):c.1168G>A (p.Gly390Arg)	ACD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1052741	NM_001082486.2(ACD):c.527G>A (p.Arg176Gln)	ACD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1057054	NM_001082486.2(ACD):c.1147C>T (p.Arg383Trp)	ACD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1058605	NM_001082486.2(ACD):c.617A>C (p.His206Pro)	ACD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1319341	NM_001082486.2(ACD):c.337-6C>T	ACD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1381050	NM_001082486.2(ACD):c.1283G>A (p.Arg428Gln)	ACD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1398829	NC_000016.10:g.67660436C>T	ACD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1406425	NM_001082486.2(ACD):c.-9G>C	ACD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1417229	NM_001082486.2(ACD):c.1004G>A (p.Arg335His)	ACD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1430870	NM_001082486.2(ACD):c.1013G>A (p.Ser338Asn)	ACD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1439799	NC_000016.10:g.67660382G>A	ACD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1497734	NC_000016.10:g.67660376C>T	ACD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1775178	NM_001082486.2(ACD):c.1299G>A (p.Arg433=)	ACD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1792938	NM_001082486.2(ACD):c.-5T>C	ACD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1793614	NM_001082486.2(ACD):c.847G>A (p.Gly283Ser)	ACD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1798493	NM_001082486.2(ACD):c.40C>A (p.Arg14=)	ACD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
2995231	NM_001082486.2(ACD):c.140A>G (p.His47Arg)	ACD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
3232667	NM_001082486.2(ACD):c.68C>T (p.Pro23Leu)	ACD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
434071	NM_001082486.2(ACD):c.22G>A (p.Val8Ile)	ACD	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
2423664	NC_000016.9:g.(?65821800)(72146396_?)del	AARS1	Uncertain significance	criteria provided, single submitter
1000401	NM_001082486.2(ACD):c.85G>C (p.Gly29Arg)	ACD	Uncertain significance	criteria provided, multiple submitters, no conflicts
1000503	NC_000016.10:g.67660373C>T	ACD	Uncertain significance	criteria provided, multiple submitters, no conflicts
1007269	NM_001082486.2(ACD):c.1252T>A (p.Tyr418Asn)	ACD	Uncertain significance	criteria provided, single submitter
1008057	NC_000016.10:g.67660358G>A	ACD	Uncertain significance	criteria provided, single submitter
1010403	NM_001082486.2(ACD):c.170C>T (p.Thr57Met)	ACD	Uncertain significance	criteria provided, multiple submitters, no conflicts
1015326	NM_001082486.2(ACD):c.46C>A (p.Leu16Met)	ACD	Uncertain significance	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 15 · Orphanet: 6 · 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
ACD	Strong	Autosomal dominant	dyskeratosis congenita, autosomal dominant 6	15

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
ACD	Orphanet:3322	Hoyeraal-Hreidarsson syndrome
ACD	Orphanet:397692	Hereditary isolated aplastic anemia
ACD	Orphanet:618	Familial melanoma
AARS1	Orphanet:228174	Autosomal dominant Charcot-Marie-Tooth disease type 2N
AARS1	Orphanet:33364	Trichothiodystrophy
AARS1	Orphanet:442835	Non-specific early-onset epileptic encephalopathy

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
ACD	HGNC:25070	ENSG00000102977	Q96AP0	Adrenocortical dysplasia protein homolog	gencc,clinvar
AARS1	HGNC:20	ENSG00000090861	P49588	Alanine–tRNA ligase, cytoplasmic	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
ACD	Adrenocortical dysplasia protein homolog	Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection.
AARS1	Alanine–tRNA ligase, cytoplasmic	Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala).

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)
ACD	Other/Unknown	no		TPP1/Est3, ACD
AARS1	Other/Unknown	no		Ala-tRNA-lgiase_IIc, DHHA1_dom, Transl_B-barrel_sf

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
cerebellar cortex	1
cerebellar hemisphere	1
right hemisphere of cerebellum	1
endometrium epithelium	1
frontal pole	1
type B pancreatic cell	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
ACD	282	ubiquitous	marker	right hemisphere of cerebellum, cerebellar hemisphere, cerebellar cortex
AARS1	301	ubiquitous	marker	endometrium epithelium, type B pancreatic cell, frontal pole

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
AARS1	3,074
ACD	1,044

Structural data

PDB: 2 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
ACD	Q96AP0	19
AARS1	P49588	6

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 32. Enrichment computed across 2 evidence-associated genes (2 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 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Depurination	1	815.7×	0.012	ACD
Depyrimidination	1	475.8×	0.012	ACD
Base-Excision Repair, AP Site Formation	1	439.2×	0.012	ACD
Telomere C-strand synthesis initiation	1	407.9×	0.012	ACD
Processive synthesis on the C-strand of the telomere	1	380.7×	0.012	ACD
Telomere C-strand (Lagging Strand) Synthesis	1	380.7×	0.012	ACD
Base Excision Repair	1	356.9×	0.012	ACD
Removal of the Flap Intermediate from the C-strand	1	317.2×	0.012	ACD
Extension of Telomeres	1	300.5×	0.012	ACD
Telomere Extension By Telomerase	1	228.4×	0.013	ACD
Cytosolic tRNA aminoacylation	1	219.6×	0.013	AARS1
Polymerase switching on the C-strand of the telomere	1	211.5×	0.013	ACD
Telomere Maintenance	1	184.2×	0.013	ACD
Meiosis	1	142.8×	0.015	ACD
tRNA Aminoacylation	1	142.8×	0.015	AARS1
Packaging Of Telomere Ends	1	109.8×	0.016	ACD
Chromosome Maintenance	1	105.7×	0.016	ACD
Recognition and association of DNA glycosylase with site containing an affected purine	1	102.0×	0.016	ACD
Cleavage of the damaged purine	1	102.0×	0.016	ACD
Reproduction	1	95.2×	0.016	ACD
Recognition and association of DNA glycosylase with site containing an affected pyrimidine	1	92.1×	0.016	ACD
Cleavage of the damaged pyrimidine	1	92.1×	0.016	ACD
Inhibition of DNA recombination at telomere	1	84.0×	0.016	ACD
DNA Damage/Telomere Stress Induced Senescence	1	81.6×	0.016	ACD
Meiotic synapsis	1	70.5×	0.018	ACD
Cellular Senescence	1	68.8×	0.018	ACD
DNA Repair	1	49.2×	0.024	ACD
Translation	1	31.0×	0.037	AARS1
Cellular responses to stress	1	18.4×	0.058	ACD
Cell Cycle	1	18.0×	0.058	ACD

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 cytoplasmic translational fidelity	1	8426.0×	0.002	AARS1
alanyl-tRNA aminoacylation	1	4213.0×	0.002	AARS1
segmentation	1	4213.0×	0.002	ACD
regulation of establishment of protein localization to telomere	1	2808.7×	0.002	ACD
telomere assembly	1	2106.5×	0.002	ACD
protection from non-homologous end joining at telomere	1	1203.7×	0.004	ACD
establishment of protein localization to telomere	1	1053.2×	0.004	ACD
cerebellar Purkinje cell layer development	1	766.0×	0.004	AARS1
protein localization to chromosome, telomeric region	1	766.0×	0.004	ACD
telomere capping	1	648.1×	0.004	ACD
negative regulation of signal transduction by p53 class mediator	1	601.9×	0.004	AARS1
positive regulation of hippo signaling	1	526.6×	0.004	AARS1
urogenital system development	1	495.6×	0.004	ACD
tRNA aminoacylation for protein translation	1	421.3×	0.004	AARS1
tRNA processing	1	421.3×	0.004	AARS1
telomere maintenance via telomerase	1	366.4×	0.004	ACD
negative regulation of telomere maintenance via telomerase	1	366.4×	0.004	ACD
tRNA modification	1	300.9×	0.005	AARS1
positive regulation of telomere maintenance	1	255.3×	0.005	ACD
embryonic limb morphogenesis	1	200.6×	0.006	ACD
neuromuscular process controlling balance	1	165.2×	0.007	AARS1
telomere maintenance	1	133.8×	0.009	ACD
neuron apoptotic process	1	92.6×	0.012	AARS1
skeletal system development	1	62.9×	0.017	ACD
negative regulation of neuron apoptotic process	1	55.4×	0.019	AARS1
intracellular protein transport	1	32.4×	0.031	ACD

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
ACD	0	0
AARS1	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

Symbol	Assays	Type breakdown
AARS1	2	Binding:2

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	ACD, AARS1

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)
ACD	0	—
AARS1	2	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.