Silver-Russell syndrome 1

Summary

Silver-Russell syndrome 1 (MONDO:0020796) is a disease with 8 cohort genes.

At a glance

• Cohort genes: 8
• ClinVar variants: 19

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	Silver-Russell syndrome 1
Mondo ID	MONDO:0020796
OMIM	180860
UMLS	C5393125
MedGen	1718472
GARD	0025253
Is cancer (heuristic)	no

Also known as: SRS1

Data availability: 19 ClinVar variants.

Disease family

Classification path: disease › human disease › disease by body system or component › syndromic disease › Silver-Russell syndrome › Silver-Russell syndrome 1

Related subtypes (10): Russell-silver syndrome, X-linked, Silver-Russell syndrome 3, silver-Russell syndrome due to 7p11.2p13 microduplication, silver-Russell syndrome due to an imprinting defect of 11p15, silver-Russell syndrome due to 11p15 microduplication, silver-Russell syndrome due to maternal uniparental disomy of chromosome 11, silver-Russell syndrome due to maternal uniparental disomy of chromosome 7, Silver-Russell syndrome 5, silver-russell syndrome 2, silver-russell syndrome 4

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

19 retrieved; paginated sample, class counts are floors:

10 pathogenic, 5 uncertain significance, 2 conflicting classifications of pathogenicity, 1 benign, 1 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
192361	NM_001122630.2(CDKN1C):c.803G>T (p.Arg268Leu)	CDKN1C	Pathogenic	criteria provided, single submitter
625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	EIF3F	Pathogenic	criteria provided, single submitter
253034	NM_003483.6(HMGA2):c.193C>T (p.Gln65Ter)	HMGA2	Pathogenic	criteria provided, single submitter
253035	NM_003483.6(HMGA2):c.189del (p.Ala64fs)	HMGA2	Pathogenic	no assertion criteria provided
253036	NM_000612.6(IGF2):c.78C>G (p.Tyr26Ter)	IGF2	Pathogenic	criteria provided, single submitter
253298	NM_000612.6(IGF2):c.157+1_157+2insGC	IGF2	Pathogenic	no assertion criteria provided
977320	NM_000218.3(KCNQ1):c.1514+37364_1514+38744del	KCNQ1	Pathogenic	no assertion criteria provided
253204	NM_002655.3(PLAG1):c.439del (p.Ser147fs)	LOC126860395	Pathogenic	no assertion criteria provided
253033	NM_002655.3(PLAG1):c.1363del (p.Gln455fs)	PLAG1	Pathogenic	no assertion criteria provided
981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	RIC8A	Pathogenic	no assertion criteria provided
976061	NM_000612.6(IGF2):c.100G>T (p.Gly34Cys)	IGF2	Likely pathogenic	criteria provided, multiple submitters, no conflicts
2178673	NM_000612.6(IGF2):c.439G>C (p.Glu147Gln)	IGF2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
710647	NM_001127598.3(IGF2):c.97C>T (p.Gln33Ter)	IGF2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1064521	NM_003836.7(DLK1):c.103G>C (p.Gly35Arg)	DLK1	Uncertain significance	no assertion criteria provided
2989064	NM_000612.6(IGF2):c.5G>A (p.Gly2Glu)	IGF2	Uncertain significance	criteria provided, multiple submitters, no conflicts
3891375	NM_000612.6(IGF2):c.518C>A (p.Pro173Gln)	IGF2	Uncertain significance	criteria provided, multiple submitters, no conflicts
3777006	NR_002728.4(KCNQ1OT1):n.171_224del	KCNQ1	Uncertain significance	criteria provided, single submitter
3777007	NM_000218.3(KCNQ1):c.1514+37668_1514+37784del	KCNQ1	Uncertain significance	criteria provided, single submitter
1064522	NM_003836.7(DLK1):c.194A>G (p.His65Arg)	DLK1	Benign	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 28 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
CDKN1C	Orphanet:231120	Beckwith-Wiedemann syndrome due to CDKN1C mutation
CDKN1C	Orphanet:397590	Silver-Russell syndrome due to a point mutation
CDKN1C	Orphanet:436144	Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
CDKN1C	Orphanet:85173	IMAGe syndrome
DLK1	Orphanet:254525	Temple syndrome due to paternal 14q32.2 microdeletion
DLK1	Orphanet:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
DLK1	Orphanet:254531	Temple syndrome due to paternal 14q32.2 hypomethylation
DLK1	Orphanet:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
DLK1	Orphanet:650077	Genetic central precocious puberty in female
DLK1	Orphanet:650097	Genetic central precocious puberty in male
DLK1	Orphanet:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14
DLK1	Orphanet:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HMGA2	Orphanet:276148	Benign epithelial tumor of salivary glands
HMGA2	Orphanet:397590	Silver-Russell syndrome due to a point mutation
HMGA2	Orphanet:94063	12q14 microdeletion syndrome
HMGA2	Orphanet:99970	Dedifferentiated liposarcoma
HMGA2	Orphanet:99971	Well-differentiated liposarcoma
IGF2	Orphanet:2128	Isolated hemihyperplasia
IGF2	Orphanet:231117	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
IGF2	Orphanet:231140	Silver-Russell syndrome due to an imprinting defect of 11p15
IGF2	Orphanet:231144	Silver-Russell syndrome due to 11p15 microduplication
IGF2	Orphanet:397590	Silver-Russell syndrome due to a point mutation
KCNQ1	Orphanet:101016	Romano-Ward syndrome
KCNQ1	Orphanet:334	Hereditary atrial fibrillation
KCNQ1	Orphanet:51083	Congenital short QT syndrome
KCNQ1	Orphanet:90647	Jervell and Lange-Nielsen syndrome
PLAG1	Orphanet:276148	Benign epithelial tumor of salivary glands
PLAG1	Orphanet:397590	Silver-Russell syndrome due to a point mutation

Cohort genes → proteins

8 cohort genes, 8 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	8

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
CDKN1C	HGNC:1786	ENSG00000129757	P49918	Cyclin-dependent kinase inhibitor 1C	clinvar
DLK1	HGNC:2907	ENSG00000185559	P80370	Protein delta homolog 1	clinvar
RIC8A	HGNC:29550	ENSG00000177963	Q9NPQ8	Chaperone Ric-8A	clinvar
EIF3F	HGNC:3275	ENSG00000175390	O00303	Eukaryotic translation initiation factor 3 subunit F	clinvar
HMGA2	HGNC:5009	ENSG00000149948	P52926	High mobility group protein HMGI-C	clinvar
IGF2	HGNC:5466	ENSG00000167244	P01344	Insulin-like growth factor 2	clinvar
KCNQ1	HGNC:6294	ENSG00000053918	P51787	Potassium voltage-gated channel subfamily KQT member 1	clinvar
PLAG1	HGNC:9045	ENSG00000181690	Q6DJT9	Zinc finger protein PLAG1	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
CDKN1C	Cyclin-dependent kinase inhibitor 1C	Potent tight-binding inhibitor of several G1 cyclin/CDK complexes (cyclin E-CDK2, cyclin D2-CDK4, and cyclin A-CDK2) and, to lesser extent, of the mitotic cyclin B-CDC2.
DLK1	Protein delta homolog 1	May have a role in neuroendocrine differentiation.
RIC8A	Chaperone Ric-8A	Chaperone that specifically binds and folds nascent G alpha proteins prior to G protein heterotrimer formation, promoting their stability and activity: folds GNAI1, GNAO1, GNA13 and GNAQ.
EIF3F	Eukaryotic translation initiation factor 3 subunit F	Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis.
HMGA2	High mobility group protein HMGI-C	Functions as a transcriptional regulator.
IGF2	Insulin-like growth factor 2	The insulin-like growth factors possess growth-promoting activity.
KCNQ1	Potassium voltage-gated channel subfamily KQT member 1	Pore-forming subunit of the voltage-gated potassium (Kv) channel involved in the regulation of cardiomyocyte excitability and important in normal development and functions of myocardium, inner ear, stomach and colon.
PLAG1	Zinc finger protein PLAG1	Transcription factor whose activation results in up-regulation of target genes, such as IGFII, leading to uncontrolled cell proliferation: when overexpressed in cultured cells, higher proliferation rate and transformation are observed.

Protein-family classification

Druggable: 1 · Difficult: 1 · Unknown: 6 · Druggable fraction: 0.12

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
Ion channel	1	13.9×	0.209
Other/Unknown	6	1.3×	0.352
Transcription factor	1	1.0×	0.644

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
CDKN1C	Other/Unknown	no		CDI_dom, CDI_dom_sf
DLK1	Other/Unknown	no		EGF-type_Asp/Asn_hydroxyl_site, EGF, EGF-like_Ca-bd_dom
RIC8A	Other/Unknown	no		Chaperone_Ric-8_A/B, ARM-like, ARM-type_fold
EIF3F	Other/Unknown	no		JAMM/MPN+_dom, EIF3F/CSN6-like_C, eIF3f
HMGA2	Other/Unknown	no		HMGA, HMGI/Y_DNA-bd_CS, AT_hook_DNA-bd_motif
IGF2	Other/Unknown	no		IGF2_C, Insulin-like, IGF2
KCNQ1	Ion channel	yes		K_chnl_volt-dep_KCNQ, Ion_trans_dom, K_chnl_volt-dep_KCQN1
PLAG1	Transcription factor	no		Znf_C2H2_type, Znf_C2H2_sf

Expression context

Cohort genes with no expression data: 0.

8 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)	8
unknown	0

Top tissues across cohort

Tissue	Cohort genes
adrenal tissue	2
placenta	2
right adrenal gland cortex	2
stromal cell of endometrium	2
sural nerve	2
C1 segment of cervical spinal cord	1
adrenal cortex	1
right adrenal gland	1
granulocyte	1
ventricular zone	1
ganglionic eminence	1
left ovary	1
primordial germ cell in gonad	1
embryo	1
left adrenal gland	1
left adrenal gland cortex	1
amniotic fluid	1
oocyte	1
secondary oocyte	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
CDKN1C	134	ubiquitous	marker	placenta, adrenal tissue, C1 segment of cervical spinal cord
DLK1	199	broad	marker	right adrenal gland cortex, right adrenal gland, adrenal cortex
RIC8A	274	ubiquitous	marker	stromal cell of endometrium, ventricular zone, granulocyte
EIF3F	261	ubiquitous	marker	primordial germ cell in gonad, ganglionic eminence, left ovary
HMGA2	149	ubiquitous	marker	sural nerve, embryo, stromal cell of endometrium
IGF2	135	ubiquitous	marker	adrenal tissue, placenta, sural nerve
KCNQ1	132	broad	marker	left adrenal gland cortex, left adrenal gland, right adrenal gland cortex
PLAG1	209	ubiquitous	marker	secondary oocyte, amniotic fluid, oocyte

Protein interactions among cohort

Intra-cohort edges: 3.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
IGF2	4,294
EIF3F	4,287
KCNQ1	3,235
CDKN1C	2,275
PLAG1	1,482
RIC8A	1,436
HMGA2	219
DLK1	186

Intra-cohort edges

A	B	Sources
CDKN1C	IGF2	string_interaction
CDKN1C	KCNQ1	string_interaction
IGF2	PLAG1	string_interaction

Structural data

PDB: 4 · AlphaFold-only: 4 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
KCNQ1	P51787	28
EIF3F	O00303	27
IGF2	P01344	16
DLK1	P80370	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
RIC8A	Q9NPQ8	90.37
HMGA2	P52926	65.46
CDKN1C	P49918	63.93
PLAG1	Q6DJT9	56.91

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 31. Enrichment computed across 8 evidence-associated genes (6 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 6 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
SHC-related events triggered by IGF1R	1	190.3×	0.037	IGF2
Phase 3 - rapid repolarisation	1	190.3×	0.037	KCNQ1
IRS-related events triggered by IGF1R	1	173.0×	0.037	IGF2
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)	1	158.6×	0.037	IGF2
Aberrant regulation of mitotic G1/S transition in cancer due to RB1 defects	1	146.4×	0.037	CDKN1C
Phase 2 - plateau phase	1	126.9×	0.037	KCNQ1
Formation of Senescence-Associated Heterochromatin Foci (SAHF)	1	112.0×	0.037	HMGA2
Defective binding of RB1 mutants to E2F1,(E2F2, E2F3)	1	105.7×	0.037	CDKN1C
Aberrant regulation of mitotic cell cycle due to RB1 defects	1	68.0×	0.043	CDKN1C
G1 Phase	1	65.6×	0.043	CDKN1C
Diseases of mitotic cell cycle	1	65.6×	0.043	CDKN1C
Activated NOTCH1 Transmits Signal to the Nucleus	1	59.5×	0.043	DLK1
Voltage gated Potassium channels	1	40.5×	0.055	KCNQ1
Cyclin D associated events in G1	1	38.8×	0.055	CDKN1C
Formation of the ternary complex, and subsequently, the 43S complex	1	35.9×	0.055	EIF3F
Translation initiation complex formation	1	31.7×	0.055	EIF3F
Ribosomal scanning and start codon recognition	1	31.7×	0.055	EIF3F
Mitotic G1 phase and G1/S transition	1	30.7×	0.055	CDKN1C
CHD6, CHD7, CHD8, CHD9 subfamily	1	24.7×	0.065	IGF2
Potassium Channels	1	22.4×	0.068	KCNQ1
Formation of a pool of free 40S subunits	1	18.7×	0.075	EIF3F
Cardiac conduction	1	18.1×	0.075	KCNQ1
L13a-mediated translational silencing of Ceruloplasmin expression	1	16.8×	0.075	EIF3F
GTP hydrolysis and joining of the 60S ribosomal subunit	1	16.7×	0.075	EIF3F
Platelet degranulation	1	14.6×	0.080	IGF2
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)	1	14.4×	0.080	IGF2
Muscle contraction	1	12.9×	0.086	KCNQ1
Cell Cycle, Mitotic	1	8.0×	0.131	CDKN1C
Neuronal System	1	7.4×	0.137	KCNQ1
Cell Cycle	1	6.0×	0.161	CDKN1C

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 8 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
embryonic placenta morphogenesis	2	842.6×	3e-04	CDKN1C, IGF2
genomic imprinting	2	247.8×	0.001	CDKN1C, IGF2
multicellular organism growth	3	51.4×	0.001	CDKN1C, HMGA2, PLAG1
adrenal gland development	2	168.5×	0.002	CDKN1C, HMGA2
positive regulation of multicellular organism growth	2	123.9×	0.004	HMGA2, IGF2
gastrin-induced gastric acid secretion	1	2106.5×	0.008	KCNQ1
mesodermal-endodermal cell signaling	1	2106.5×	0.008	HMGA2
cell-cell adhesion involved in gastrulation	1	2106.5×	0.008	RIC8A
negative regulation of voltage-gated potassium channel activity	1	2106.5×	0.008	KCNQ1
glucose metabolic process	2	63.8×	0.008	IGF2, KCNQ1
rhythmic behavior	1	1053.2×	0.011	KCNQ1
corticosterone secretion	1	1053.2×	0.011	KCNQ1
stomach development	1	1053.2×	0.011	KCNQ1
regulation of lens fiber cell differentiation	1	1053.2×	0.011	CDKN1C
regulation of growth hormone secretion	1	702.2×	0.015	HMGA2
regulation of gastric acid secretion	1	702.2×	0.015	KCNQ1
regulation of DNA-templated transcription	3	11.8×	0.015	HMGA2, IGF2, PLAG1
negative regulation of intracellular steroid hormone receptor signaling pathway	1	526.6×	0.016	HMGA2
positive regulation of cell proliferation in bone marrow	1	526.6×	0.016	HMGA2
positive regulation of skeletal muscle tissue growth	1	421.3×	0.016	IGF2
digestive system development	1	421.3×	0.016	CDKN1C
regulation of bone remodeling	1	351.1×	0.016	DLK1
membrane repolarization during atrial cardiac muscle cell action potential	1	351.1×	0.016	KCNQ1
negative regulation of delayed rectifier potassium channel activity	1	351.1×	0.016	KCNQ1
iodide transport	1	300.9×	0.016	KCNQ1
gland morphogenesis	1	300.9×	0.016	PLAG1
regulation of atrial cardiac muscle cell membrane repolarization	1	300.9×	0.016	KCNQ1
positive regulation of epithelial cell proliferation involved in lung morphogenesis	1	300.9×	0.016	HMGA2
oncogene-induced cell senescence	1	300.9×	0.016	HMGA2
mesenchymal cell differentiation	1	263.3×	0.016	HMGA2

Therapeutics

Drug target analysis

Approved (phase 4): 2 · Phase ≥3: 2 · Phased (≥1): 2 · Undrugged: 6

Druggability breadth: 5 of 8 evidence-associated genes (62%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
DLK1	FEDRATINIB
KCNQ1	AMBRISENTAN

Top cohort targets by molecule count

Symbol	Molecules	Max phase
DLK1	15	4
KCNQ1	15	4
CDKN1C	0	0
RIC8A	0	0
EIF3F	0	0
HMGA2	0	0
IGF2	0	0
PLAG1	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
FEDRATINIB	4	DLK1
AXITINIB	4	DLK1
NERATINIB	4	DLK1
BOSUTINIB	4	DLK1
SUNITINIB	4	DLK1, KCNQ1
CRIZOTINIB	4	DLK1
AMBRISENTAN	4	KCNQ1
DULOXETINE	4	KCNQ1
PALONOSETRON	4	KCNQ1
DARUNAVIR	4	KCNQ1
DARIFENACIN	4	KCNQ1
TOLTERODINE	4	KCNQ1
SOLIFENACIN	4	KCNQ1
EVEROLIMUS	4	KCNQ1
RALTEGRAVIR	4	KCNQ1
MARAVIROC	4	KCNQ1
ALVIMOPAN	4	KCNQ1
NEBIVOLOL	4	KCNQ1
NELFINAVIR	4	KCNQ1
CEP-1347	3	DLK1
DOVITINIB	3	DLK1
LESTAURTINIB	3	DLK1
VOLINANSERIN	3	KCNQ1
SU-014813	2	DLK1
TOZASERTIB	2	DLK1
PELITINIB	2	DLK1
KW-2449	1	DLK1
GDC-0134	1	DLK1
AST-487	1	DLK1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

Symbol	Assays	Type breakdown
KCNQ1	179	Binding:96, Functional:64, ADMET:14, Toxicity:5
DLK1	51	Binding:51
EIF3F	4	Binding:4
RIC8A	1	Binding:1

Cohort genes with high screening signal

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

Symbol	ChEMBL assays
KCNQ1	179

Pharmacogenomics

Cohort genes with a PharmGKB record: 8; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

29 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)
FEDRATINIB	4	DLK1
AXITINIB	4	DLK1
NERATINIB	4	DLK1
BOSUTINIB	4	DLK1
SUNITINIB	4	DLK1, KCNQ1
CRIZOTINIB	4	DLK1
AMBRISENTAN	4	KCNQ1
DULOXETINE	4	KCNQ1
PALONOSETRON	4	KCNQ1
DARUNAVIR	4	KCNQ1
DARIFENACIN	4	KCNQ1
TOLTERODINE	4	KCNQ1
SOLIFENACIN	4	KCNQ1
EVEROLIMUS	4	KCNQ1
RALTEGRAVIR	4	KCNQ1
MARAVIROC	4	KCNQ1
ALVIMOPAN	4	KCNQ1
NEBIVOLOL	4	KCNQ1
NELFINAVIR	4	KCNQ1
CEP-1347	3	DLK1
DOVITINIB	3	DLK1
LESTAURTINIB	3	DLK1
VOLINANSERIN	3	KCNQ1
SU-014813	2	DLK1
TOZASERTIB	2	DLK1
PELITINIB	2	DLK1
KW-2449	1	DLK1
GDC-0134	1	DLK1
AST-487	1	DLK1

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	2	DLK1, KCNQ1
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	6	CDKN1C, RIC8A, EIF3F, HMGA2, IGF2, PLAG1

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
CDKN1C	0	KCNQ1
RIC8A	1	—
EIF3F	4	—
HMGA2	0	—
IGF2	0	—
PLAG1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.