Pilarowski-Bjornsson syndrome

Summary

Pilarowski-Bjornsson syndrome (MONDO:0060568) is a disease caused by CHD1 (GenCC Strong), with 2 cohort genes.

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Causal gene: CHD1 (GenCC Strong)
• Cohort genes: 2
• ClinVar variants: 87
• Phenotypes (HPO): 19

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		5	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

19 HPO clinical features (Orphanet curated; top 19 by frequency):

HPO ID	Term	Frequency
HP:0001263	Global developmental delay	Very frequent (80-99%)
HP:0001290	Generalized hypotonia	Very frequent (80-99%)
HP:0000307	Pointed chin	Frequent (30-79%)
HP:0000494	Downslanted palpebral fissures	Frequent (30-79%)
HP:0000574	Thick eyebrow	Frequent (30-79%)
HP:0001249	Intellectual disability	Frequent (30-79%)
HP:0002007	Frontal bossing	Frequent (30-79%)
HP:0007874	Almond-shaped palpebral fissure	Frequent (30-79%)
HP:0010648	Dermal translucency	Frequent (30-79%)
HP:0011098	Speech apraxia	Frequent (30-79%)
HP:0011800	Midface retrusion	Frequent (30-79%)
HP:0012393	Allergy	Frequent (30-79%)
HP:0000256	Macrocephaly	Occasional (5-29%)
HP:0000729	Autistic behavior	Occasional (5-29%)
HP:0000733	Abnormal repetitive mannerisms	Occasional (5-29%)
HP:0001211	Abnormal fingertip morphology	Occasional (5-29%)
HP:0001250	Seizure	Occasional (5-29%)
HP:0002721	Immunodeficiency	Occasional (5-29%)
HP:0008897	Postnatal growth retardation	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	Pilarowski-Bjornsson syndrome
Mondo ID	MONDO:0060568
OMIM	617682
Orphanet	529965
UMLS	C4540131
MedGen	1619150
GARD	0017970
Is cancer (heuristic)	no

Also known as: Pilarowski-Bjornsson syndrome · PILBOS

Data availability: 87 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 › Pilarowski-Bjornsson syndrome

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, 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, 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

87 retrieved; paginated sample, class counts are floors:

69 uncertain significance, 7 likely pathogenic, 4 conflicting classifications of pathogenicity, 2 likely benign, 2 pathogenic, 2 benign/likely benign, 1 pathogenic/likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
438819	NM_001270.4(CHD1):c.1853G>A (p.Arg618Gln)	CHD1	Pathogenic	no assertion criteria provided
438821	NM_001270.4(CHD1):c.1379G>A (p.Arg460Lys)	CHD1	Pathogenic	no assertion criteria provided
635543	NM_000091.5(COL4A3):c.3575G>A (p.Gly1192Glu)	COL4A3	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1710449	NM_001270.4(CHD1):c.1978A>G (p.Ile660Val)	CHD1	Likely pathogenic	criteria provided, single submitter
2429179	NM_001270.4(CHD1):c.3133G>A (p.Glu1045Lys)	CHD1	Likely pathogenic	criteria provided, single submitter
2442344	NM_001270.4(CHD1):c.643dup (p.Ser215fs)	CHD1	Likely pathogenic	criteria provided, single submitter
2582374	NM_001270.4(CHD1):c.2569-11A>G	CHD1	Likely pathogenic	criteria provided, single submitter
3065580	NM_001270.4(CHD1):c.490del (p.Ser164fs)	CHD1	Likely pathogenic	criteria provided, single submitter
3254730	NM_001270.4(CHD1):c.2112dup (p.Ser705fs)	CHD1	Likely pathogenic	criteria provided, single submitter
4819013	NM_001270.4(CHD1):c.1101del (p.Pro368fs)	CHD1	Likely pathogenic	criteria provided, single submitter
1341810	NM_001270.4(CHD1):c.3998A>G (p.Lys1333Arg)	CHD1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1801360	NM_001270.4(CHD1):c.4886C>G (p.Ser1629Cys)	CHD1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
2439964	NM_001270.4(CHD1):c.2964+3A>G	CHD1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
2655615	NM_001270.4(CHD1):c.2896T>G (p.Ser966Ala)	CHD1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1027854	NM_001270.4(CHD1):c.205T>C (p.Ser69Pro)	CHD1	Uncertain significance	criteria provided, single submitter
1027855	NM_001270.4(CHD1):c.3335G>T (p.Arg1112Leu)	CHD1	Uncertain significance	criteria provided, single submitter
1027856	NM_001270.4(CHD1):c.4551G>T (p.Leu1517Phe)	CHD1	Uncertain significance	criteria provided, single submitter
1027857	NM_001270.4(CHD1):c.4792T>C (p.Tyr1598His)	CHD1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1031943	NM_001270.4(CHD1):c.271C>T (p.Pro91Ser)	CHD1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1031944	NM_001270.4(CHD1):c.4427+17T>G	CHD1	Uncertain significance	criteria provided, single submitter
1033800	NM_001270.4(CHD1):c.242T>C (p.Val81Ala)	CHD1	Uncertain significance	criteria provided, single submitter
1213798	NM_001270.4(CHD1):c.4850C>G (p.Ser1617Ter)	CHD1	Uncertain significance	criteria provided, single submitter
1342472	NM_001270.4(CHD1):c.735_738delinsGGAT (p.Asp245_Glu246delinsGluAsp)	CHD1	Uncertain significance	criteria provided, single submitter
1679616	NM_001270.4(CHD1):c.4976G>C (p.Arg1659Thr)	CHD1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1699359	NM_001270.4(CHD1):c.2353C>T (p.Arg785Cys)	CHD1	Uncertain significance	criteria provided, single submitter
1699377	NM_001270.4(CHD1):c.3571+5C>T	CHD1	Uncertain significance	criteria provided, single submitter
1705503	NM_001270.4(CHD1):c.461C>T (p.Ser154Leu)	CHD1	Uncertain significance	criteria provided, single submitter
1709126	NM_001270.4(CHD1):c.2042A>G (p.Tyr681Cys)	CHD1	Uncertain significance	criteria provided, single submitter
1710279	NM_001270.4(CHD1):c.1493A>G (p.Lys498Arg)	CHD1	Uncertain significance	no assertion criteria provided
1805196	NM_001270.4(CHD1):c.3547A>G (p.Ser1183Gly)	CHD1	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 5 · Orphanet: 5 · 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
CHD1	Strong	Autosomal dominant	Pilarowski-Bjornsson syndrome	5

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
CHD1	Orphanet:529965	Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome
COL4A3	Orphanet:653722	Digenic Alport syndrome
COL4A3	Orphanet:656	Hereditary steroid-resistant nephrotic syndrome
COL4A3	Orphanet:88918	Autosomal dominant Alport syndrome
COL4A3	Orphanet:88919	Autosomal recessive Alport syndrome

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
CHD1	HGNC:1915	ENSG00000153922	O14646	ATP-dependent chromatin remodeler CHD1	gencc,clinvar
COL4A3	HGNC:2204	ENSG00000169031	Q01955	Collagen alpha-3(IV) chain	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
CHD1	ATP-dependent chromatin remodeler CHD1	ATP-dependent chromatin-remodeling factor which functions as substrate recognition component of the transcription regulatory histone acetylation (HAT) complex SAGA.
COL4A3	Collagen alpha-3(IV) chain	Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a ‘chicken-wire’ meshwork together with laminins, proteoglycans and entactin/nidogen.

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)
CHD1	Other/Unknown	no		SNF2_N, Chromo/chromo_shadow_dom, Helicase_C-like
COL4A3	Other/Unknown	no		Collagen_IV_NC, Collagen, CTDL_fold

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
adrenal tissue	1
calcaneal tendon	1
cauda epididymis	1
pigmented layer of retina	1
retina	1
skeletal muscle tissue of biceps brachii	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
CHD1	291	ubiquitous	marker	calcaneal tendon, cauda epididymis, adrenal tissue
COL4A3	233	broad	marker	skeletal muscle tissue of biceps brachii, pigmented layer of retina, retina

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
CHD1	4,224
COL4A3	1,671

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
CHD1	O14646	18
COL4A3	Q01955	2

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 16. 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
Anchoring fibril formation	1	380.7×	0.016	COL4A3
Fibronectin matrix formation	1	285.5×	0.016	COL4A3
Crosslinking of collagen fibrils	1	285.5×	0.016	COL4A3
Attachment of bacteria to epithelial cells	1	248.3×	0.016	COL4A3
Laminin interactions	1	190.3×	0.016	COL4A3
Collagen chain trimerization	1	129.8×	0.016	COL4A3
Signaling by PDGF	1	126.9×	0.016	COL4A3
NCAM1 interactions	1	124.1×	0.016	COL4A3
Assembly of collagen fibrils and other multimeric structures	1	100.2×	0.016	COL4A3
Collagen degradation	1	87.8×	0.016	COL4A3
Collagen biosynthesis and modifying enzymes	1	85.2×	0.016	COL4A3
Non-integrin membrane-ECM interactions	1	77.2×	0.016	COL4A3
ECM proteoglycans	1	75.1×	0.016	COL4A3
Integrin cell surface interactions	1	67.2×	0.017	COL4A3
CHD1 and CHD2 subfamily	1	54.4×	0.020	CHD1
Estrogen-dependent gene expression	1	37.8×	0.026	CHD1

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
negative regulation of vascular endothelial cell proliferation	1	1685.2×	0.004	COL4A3
nucleosome organization	1	1404.3×	0.004	CHD1
glomerular basement membrane development	1	766.0×	0.004	COL4A3
collagen-activated tyrosine kinase receptor signaling pathway	1	648.1×	0.004	COL4A3
endothelial cell apoptotic process	1	648.1×	0.004	COL4A3
host-mediated activation of viral transcription	1	443.5×	0.005	CHD1
collagen fibril organization	1	112.3×	0.016	COL4A3
negative regulation of angiogenesis	1	84.3×	0.019	COL4A3
sensory perception of sound	1	50.5×	0.028	COL4A3
chromatin remodeling	1	36.5×	0.035	CHD1
cell surface receptor signaling pathway	1	32.0×	0.037	COL4A3
negative regulation of cell population proliferation	1	21.1×	0.051	COL4A3
cell adhesion	1	18.7×	0.053	COL4A3

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 2

Druggability breadth: 2 of 2 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
CHD1	0	0
COL4A3	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
CHD1	5	Binding:5

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	CHD1, COL4A3

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)
CHD1	5	—
COL4A3	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.