Basal ganglia calcification, idiopathic, 1

Summary

Basal ganglia calcification, idiopathic, 1 (MONDO:0024538) is a disease caused by SLC20A2 (GenCC Strong), with 7 cohort genes.

At a glance

• Causal gene: SLC20A2 (GenCC Strong)
• Cohort genes: 7
• ClinVar variants: 155

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	basal ganglia calcification, idiopathic, 1
Mondo ID	MONDO:0024538
MeSH	C537657
OMIM	213600, 606656
NCIT	C129973
UMLS	C4551624
MedGen	1637664
GARD	0025419
Is cancer (heuristic)	no

Also known as: basal ganglia calcification, idiopathic, 1 · basal ganglia calcification, idiopathic, 2 · basal ganglia calcification, idiopathic, 3 · basal ganglia calcification, idiopathic, type 1 · Fahr disease, familial · IBGC1 · IBGC2 · idiopathic basal ganglia calcification 1

Data availability: 155 ClinVar variants · 3 GenCC gene-disease records · 21 cell lines.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › central nervous system disorder › brain disorder › basal ganglia disorder › bilateral striopallidodentate calcinosis › basal ganglia calcification, idiopathic, 1

Related subtypes (9): basal ganglia calcification, idiopathic, childhood-onset, basal ganglia calcification, idiopathic, 4, basal ganglia calcification, idiopathic, 5, basal ganglia calcification, idiopathic, 6, basal ganglia calcification, idiopathic, 7, autosomal recessive, basal ganglia calcification, idiopathic, 8, autosomal recessive, basal ganglia calcification, idiopathic, 9, autosomal recessive, basal ganglia calcification, idiopathic, 10, autosomal recessive, basal ganglia calcification, idiopathic, 11, autosomal recessive

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

155 retrieved; paginated sample, class counts are floors:

56 uncertain significance, 26 pathogenic, 20 benign, 16 benign/likely benign, 15 likely pathogenic, 12 conflicting classifications of pathogenicity, 6 pathogenic/likely pathogenic, 4 likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1064453	NM_001257180.2(SLC20A2):c.1703C>T (p.Pro568Leu)	SLC20A2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1339721	NM_001257180.2(SLC20A2):c.1794+1G>C	SLC20A2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1676262	NM_001257180.2(SLC20A2):c.1144C>T (p.Arg382Ter)	SLC20A2	Pathogenic	criteria provided, multiple submitters, no conflicts
1691845	NM_001257180.2(SLC20A2):c.80_92del (p.Asn27fs)	SLC20A2	Pathogenic	criteria provided, single submitter
1702969	NM_001257180.2(SLC20A2):c.731-18_738del	SLC20A2	Pathogenic	criteria provided, single submitter
1705290	NM_001257180.2(SLC20A2):c.1637_1638del (p.Thr546fs)	SLC20A2	Pathogenic	criteria provided, single submitter
1804782	NM_001257180.2(SLC20A2):c.852del (p.Ile285fs)	SLC20A2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1805266	NM_001257180.2(SLC20A2):c.1438_1439del (p.Ala480fs)	SLC20A2	Pathogenic	criteria provided, single submitter
2428501	NM_001257180.2(SLC20A2):c.185T>C (p.Leu62Pro)	SLC20A2	Pathogenic	criteria provided, single submitter
2441711	NM_001257180.2(SLC20A2):c.1158C>G (p.Tyr386Ter)	SLC20A2	Pathogenic	criteria provided, single submitter
2575891	NM_001257180.2(SLC20A2):c.58_62del (p.Ala21fs)	SLC20A2	Pathogenic	criteria provided, single submitter
2735163	NM_001257180.2(SLC20A2):c.344C>T (p.Thr115Met)	SLC20A2	Pathogenic	criteria provided, multiple submitters, no conflicts
280118	NM_001257180.2(SLC20A2):c.509del (p.Ile169_Leu170insTer)	SLC20A2	Pathogenic	criteria provided, multiple submitters, no conflicts
2821960	NM_001257180.2(SLC20A2):c.783_786del (p.Ser261fs)	SLC20A2	Pathogenic	criteria provided, multiple submitters, no conflicts
2910218	NM_001257180.2(SLC20A2):c.290-8A>G	SLC20A2	Pathogenic	criteria provided, multiple submitters, no conflicts
29794	NM_001257180.2(SLC20A2):c.1802C>G (p.Ser601Trp)	SLC20A2	Pathogenic	no assertion criteria provided
29795	NM_001257180.2(SLC20A2):c.1802C>T (p.Ser601Leu)	SLC20A2	Pathogenic	criteria provided, single submitter
29796	NM_001257180.2(SLC20A2):c.1723G>A (p.Glu575Lys)	SLC20A2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
3340043	NM_001257180.2(SLC20A2):c.649del (p.Leu217fs)	SLC20A2	Pathogenic	criteria provided, single submitter
372804	NM_001257180.2(SLC20A2):c.82G>A (p.Asp28Asn)	SLC20A2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
4081968	NM_001257180.2(SLC20A2):c.1582C>T (p.Gln528Ter)	SLC20A2	Pathogenic	no assertion criteria provided
489160	NM_001257180.2(SLC20A2):c.1604G>A (p.Trp535Ter)	SLC20A2	Pathogenic	criteria provided, multiple submitters, no conflicts
522849	NM_001257180.2(SLC20A2):c.136C>T (p.Gln46Ter)	SLC20A2	Pathogenic	criteria provided, multiple submitters, no conflicts
522850	NM_001257180.2(SLC20A2):c.1723G>T (p.Glu575Ter)	SLC20A2	Pathogenic	criteria provided, single submitter
584447	NM_001257180.2(SLC20A2):c.1375G>T (p.Glu459Ter)	SLC20A2	Pathogenic	criteria provided, multiple submitters, no conflicts
620147	NM_001257180.2(SLC20A2):c.1399C>T (p.Arg467Ter)	SLC20A2	Pathogenic	criteria provided, multiple submitters, no conflicts
634898	NM_001257180.2(SLC20A2):c.21del (p.Leu7fs)	SLC20A2	Pathogenic	criteria provided, single submitter
636249	NM_001257180.2(SLC20A2):c.935-2A>G	SLC20A2	Pathogenic	criteria provided, multiple submitters, no conflicts
691908	NG_032161.2:g.(87059_102191)_(118197_128986)del	SLC20A2	Pathogenic	no assertion criteria provided
75231	NM_001257180.2(SLC20A2):c.1828_1831del (p.Ser610fs)	SLC20A2	Pathogenic	no assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 4 · Orphanet: 15 · 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
SLC20A2	Strong	Autosomal dominant	basal ganglia calcification, idiopathic, 1	4

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
SLC20A2	Orphanet:1980	Bilateral striopallidodentate calcinosis
DUOX2	Orphanet:226316	Genetic transient congenital hypothyroidism
DUOX2	Orphanet:95716	Familial thyroid dyshormonogenesis
MYORG	Orphanet:1980	Bilateral striopallidodentate calcinosis
PDGFB	Orphanet:1980	Bilateral striopallidodentate calcinosis
PDGFB	Orphanet:2495	Meningioma
PDGFB	Orphanet:263662	Familial multiple meningioma
PDGFB	Orphanet:31112	Dermatofibrosarcoma protuberans
PDGFRB	Orphanet:168950	Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement
PDGFRB	Orphanet:1980	Bilateral striopallidodentate calcinosis
PDGFRB	Orphanet:2591	Infantile myofibromatosis
PDGFRB	Orphanet:314950	Primary hypereosinophilic syndrome
PDGFRB	Orphanet:363665	Acroosteolysis-keloid-like lesions-premature aging syndrome
PDGFRB	Orphanet:477831	Kosaki overgrowth syndrome
PDGFRB	Orphanet:86830	Chronic myeloproliferative disease, unclassifiable

Cohort genes → proteins

7 cohort genes, 7 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	7

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
SLC20A2	HGNC:10947	ENSG00000168575	Q08357	Sodium-dependent phosphate transporter 2	gencc,clinvar
DUOX2	HGNC:13273	ENSG00000140279	Q9NRD8	Dual oxidase 2	clinvar
CHRNA6	HGNC:15963	ENSG00000147434	Q15825	Neuronal acetylcholine receptor subunit alpha-6	clinvar
MYORG	HGNC:19918	ENSG00000164976	Q6NSJ0	Alpha-galactosidase MYORG	clinvar
SMIM19	HGNC:25166	ENSG00000176209	Q96E16	Small integral membrane protein 19	clinvar
PDGFB	HGNC:8800	ENSG00000100311	P01127	Platelet-derived growth factor subunit B	clinvar
PDGFRB	HGNC:8804	ENSG00000113721	P09619	Platelet-derived growth factor receptor beta	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
SLC20A2	Sodium-dependent phosphate transporter 2	Sodium-phosphate symporter which preferentially transports the monovalent form of phosphate with a stoichiometry of two sodium ions per phosphate ion.
DUOX2	Dual oxidase 2	Generates hydrogen peroxide which is required for the activity of thyroid peroxidase/TPO and lactoperoxidase/LPO.
CHRNA6	Neuronal acetylcholine receptor subunit alpha-6	Component of neuronal acetylcholine receptors (nAChRs) that function as pentameric, ligand-gated cation channels with high calcium permeability among other activities. nAChRs are excitatory neurotrasnmitter receptors formed by a collection…
MYORG	Alpha-galactosidase MYORG	Alpha-galactosidase with unusual specificity for the Gal-alpha1,4-Glc structure, whose in vivo substrate is still unknown.
PDGFB	Platelet-derived growth factor subunit B	Growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis.
PDGFRB	Platelet-derived growth factor receptor beta	Tyrosine-protein kinase that acts as a cell-surface receptor for homodimeric PDGFB and PDGFD and for heterodimers formed by PDGFA and PDGFB, and plays an essential role in the regulation of embryonic development, cell proliferation, surviv…

Protein-family classification

Druggable: 3 · Difficult: 0 · Unknown: 4 · Druggable fraction: 0.43

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
Transporter	1	11.1×	0.346
Kinase	1	4.0×	0.454
Enzyme (other)	1	1.7×	0.609
Other/Unknown	4	1.0×	0.626

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
SLC20A2	Transporter	yes		Phos_transporter
DUOX2	Enzyme (other)	yes	1.6.3.1	EF_hand_dom, Haem_peroxidase_sf, EF-hand-dom_pair
CHRNA6	Other/Unknown	no		Nicotinic_acetylcholine_rcpt, Neurotrans-gated_channel_TM, Neur_channel
MYORG	Other/Unknown	no		Glyco_hydro_31_TIM, Glyco_hydro_b, GH_hydrolase_sf
SMIM19	Other/Unknown	no		SMIM19
PDGFB	Other/Unknown	no		PDGF/VEGF_dom, PDGF_N, PD_growth_factor_CS
PDGFRB	Kinase	yes	2.7.10.1	Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom, Tyr_kinase_rcpt_3_CS

Expression context

Cohort genes with no expression data: 0.

7 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)	7
unknown	0

Top tissues across cohort

Tissue	Cohort genes
left lobe of thyroid gland	1
right lobe of thyroid gland	1
thyroid gland	1
gall bladder	1
nasal cavity epithelium	1
palpebral conjunctiva	1
buccal mucosa cell	1
male germ line stem cell (sensu Vertebrata) in testis	1
pancreatic ductal cell	1
gastrocnemius	1
hindlimb stylopod muscle	1
ventricular zone	1
bronchial epithelial cell	1
left ventricle myocardium	1
parotid gland	1
apex of heart	1
olfactory bulb	1
type B pancreatic cell	1
endocervix	1
right coronary artery	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
SLC20A2	276	ubiquitous	marker	left lobe of thyroid gland, right lobe of thyroid gland, thyroid gland
DUOX2	191	tissue_specific	marker	gall bladder, nasal cavity epithelium, palpebral conjunctiva
CHRNA6	80	tissue_specific	marker	pancreatic ductal cell, male germ line stem cell (sensu Vertebrata) in testis, buccal mucosa cell
MYORG	185	ubiquitous	marker	ventricular zone, gastrocnemius, hindlimb stylopod muscle
SMIM19	256	ubiquitous	marker	parotid gland, left ventricle myocardium, bronchial epithelial cell
PDGFB	259	ubiquitous	marker	olfactory bulb, type B pancreatic cell, apex of heart
PDGFRB	270	ubiquitous	marker	stromal cell of endometrium, right coronary artery, endocervix

Protein interactions among cohort

Intra-cohort edges: 7.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
PDGFRB	5,111
PDGFB	2,424
SLC20A2	1,923
MYORG	1,675
DUOX2	1,639
CHRNA6	891
SMIM19	257

Intra-cohort edges

A	B	Sources
MYORG	PDGFB	string_interaction
MYORG	PDGFRB	string_interaction
MYORG	SLC20A2	string_interaction
PDGFB	PDGFRB	biogrid_interaction, intact, string_interaction
PDGFB	SLC20A2	string_interaction
PDGFRB	SLC20A2	string_interaction
SLC20A2	SMIM19	string_interaction

Structural data

PDB: 4 · AlphaFold-only: 3 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
PDGFRB	P09619	8
PDGFB	P01127	6
MYORG	Q6NSJ0	3
CHRNA6	Q15825	2

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
DUOX2	Q9NRD8	84.37
SLC20A2	Q08357	72.63
SMIM19	Q96E16	68.02

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 25. Enrichment computed across 7 evidence-associated genes (5 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 5 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Downstream signal transduction	2	152.3×	0.002	PDGFB, PDGFRB
Signaling by PDGF	2	101.5×	0.002	PDGFB, PDGFRB
Defective SLC20A2 causes idiopathic basal ganglia calcification 1 (IBGC1)	1	2284.0×	0.004	SLC20A2
Constitutive Signaling by Aberrant PI3K in Cancer	2	50.8×	0.004	PDGFB, PDGFRB
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	2	38.7×	0.005	PDGFB, PDGFRB
Sodium-coupled phosphate cotransporters	1	761.3×	0.005	SLC20A2
PIP3 activates AKT signaling	2	26.7×	0.008	PDGFB, PDGFRB
RAF/MAP kinase cascade	2	24.4×	0.008	PDGFB, PDGFRB
Highly calcium permeable nicotinic acetylcholine receptors	1	253.8×	0.011	CHRNA6
Highly calcium permeable postsynaptic nicotinic acetylcholine receptors	1	207.6×	0.011	CHRNA6
Presynaptic nicotinic acetylcholine receptors	1	190.3×	0.011	CHRNA6
Acetylcholine binding and downstream events	1	163.1×	0.011	CHRNA6
Thyroxine biosynthesis	1	163.1×	0.011	DUOX2
Postsynaptic nicotinic acetylcholine receptors	1	163.1×	0.011	CHRNA6
SLC transporter disorders	1	40.8×	0.040	SLC20A2
Non-integrin membrane-ECM interactions	1	30.9×	0.050	PDGFB
Disorders of transmembrane transporters	1	27.9×	0.052	SLC20A2
R-HSA-425393	1	25.9×	0.053	SLC20A2
Neurotransmitter receptors and postsynaptic signal transmission	1	20.0×	0.064	CHRNA6
Platelet degranulation	1	17.6×	0.070	PDGFB
Transmission across Chemical Synapses	1	15.2×	0.076	CHRNA6
SLC-mediated transmembrane transport	1	11.8×	0.093	SLC20A2
Neuronal System	1	8.8×	0.117	CHRNA6
Transport of small molecules	1	5.0×	0.191	SLC20A2
Disease	1	2.6×	0.328	SLC20A2

GO biological processes 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.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway	2	1872.4×	3e-05	PDGFB, PDGFRB
smooth muscle adaptation	2	1404.3×	3e-05	PDGFB, PDGFRB
positive regulation of DNA biosynthetic process	2	374.5×	3e-04	PDGFB, PDGFRB
positive regulation of smooth muscle cell migration	2	330.4×	3e-04	PDGFB, PDGFRB
positive regulation of calcium ion import	2	312.1×	3e-04	PDGFB, PDGFRB
positive regulation of chemotaxis	2	280.9×	3e-04	PDGFB, PDGFRB
positive regulation of MAP kinase activity	2	216.1×	5e-04	PDGFB, PDGFRB
platelet-derived growth factor receptor signaling pathway	2	187.2×	5e-04	PDGFB, PDGFRB
positive regulation of mitotic nuclear division	2	181.2×	5e-04	PDGFB, PDGFRB
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	3	39.2×	5e-04	MYORG, PDGFB, PDGFRB
positive regulation of reactive oxygen species metabolic process	2	170.2×	5e-04	PDGFB, PDGFRB
peptidyl-tyrosine phosphorylation	2	140.4×	7e-04	PDGFB, PDGFRB
positive regulation of smooth muscle cell proliferation	2	110.1×	0.001	PDGFB, PDGFRB
cell migration involved in coronary angiogenesis	1	2808.7×	0.002	PDGFRB
metanephric glomerular mesangial cell development	1	2808.7×	0.002	PDGFB
metanephric glomerular mesangial cell proliferation involved in metanephros development	1	2808.7×	0.002	PDGFRB
positive regulation of vascular associated smooth muscle cell dedifferentiation	1	2808.7×	0.002	PDGFB
positive regulation of metanephric mesenchymal cell migration	1	2808.7×	0.002	PDGFB
cell chemotaxis	2	61.7×	0.002	PDGFB, PDGFRB
negative regulation of phosphatidylinositol biosynthetic process	1	1404.3×	0.003	PDGFB
cell migration involved in vasculogenesis	1	1404.3×	0.003	PDGFRB
cellular response to mycophenolic acid	1	1404.3×	0.003	PDGFB
smooth muscle cell chemotaxis	1	1404.3×	0.003	PDGFRB
positive regulation of glomerular filtration	1	936.2×	0.004	PDGFB
positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway	1	936.2×	0.004	PDGFRB
cuticle development	1	936.2×	0.004	DUOX2
metanephric glomerular capillary formation	1	936.2×	0.004	PDGFRB
positive regulation of hyaluronan biosynthetic process	1	702.2×	0.005	PDGFB
platelet-derived growth factor receptor-beta signaling pathway	1	561.7×	0.006	PDGFRB
negative regulation of vascular associated smooth muscle cell differentiation	1	561.7×	0.006	PDGFB

Therapeutics

Drug target analysis

Approved (phase 4): 2 · Phase ≥3: 2 · Phased (≥1): 2 · Undrugged: 5

Druggability breadth: 5 of 7 evidence-associated genes (71%) 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
CHRNA6	NICOTINE
PDGFRB	PONATINIB

Top cohort targets by molecule count

Symbol	Molecules	Max phase
PDGFRB	102	4
CHRNA6	1	4
SLC20A2	0	0
DUOX2	0	0
MYORG	0	0
SMIM19	0	0
PDGFB	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
NICOTINE	4	CHRNA6
PONATINIB	4	PDGFRB
FEDRATINIB	4	PDGFRB
TIVOZANIB	4	PDGFRB
LENVATINIB	4	PDGFRB
AXITINIB	4	PDGFRB
SORAFENIB	4	PDGFRB
SUNITINIB MALATE	4	PDGFRB
REGORAFENIB	4	PDGFRB
PACRITINIB	4	PDGFRB
VANDETANIB	4	PDGFRB
NILOTINIB	4	PDGFRB
BOSUTINIB	4	PDGFRB
NINTEDANIB ESYLATE	4	PDGFRB
GILTERITINIB	4	PDGFRB
TOVORAFENIB	4	PDGFRB
PEXIDARTINIB	4	PDGFRB
PAZOPANIB	4	PDGFRB
NINTEDANIB	4	PDGFRB
SUNITINIB	4	PDGFRB
DASATINIB	4	PDGFRB
ERLOTINIB	4	PDGFRB
LAPATINIB	4	PDGFRB
QUIZARTINIB	4	PDGFRB
MIDOSTAURIN	4	PDGFRB
IMATINIB	4	PDGFRB
VATALANIB	3	PDGFRB
FAMITINIB	3	PDGFRB
MASITINIB	3	PDGFRB
CRENOLANIB	3	PDGFRB

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 2.

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

Symbol	Assays	Type breakdown
PDGFRB	1,237	Binding:1213, Functional:16, ADMET:8
CHRNA6	34	Binding:33, ADMET:1
PDGFB	3	Binding:3
SLC20A2	1	Binding:1
DUOX2	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
DUOX2	1.6.3.1	NAD(P)H oxidase (H2O2-forming)
PDGFRB	2.7.10.1	receptor protein-tyrosine kinase

Cohort genes with high screening signal

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

Symbol	ChEMBL assays
PDGFRB	1,237

Pharmacogenomics

Cohort genes with a PharmGKB record: 7; with CPIC/DPWG dosing guidelines: 0.

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

Chemical tractability of cohort targets

30 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)
NICOTINE	4	CHRNA6
PONATINIB	4	PDGFRB
FEDRATINIB	4	PDGFRB
TIVOZANIB	4	PDGFRB
LENVATINIB	4	PDGFRB
AXITINIB	4	PDGFRB
SORAFENIB	4	PDGFRB
SUNITINIB MALATE	4	PDGFRB
REGORAFENIB	4	PDGFRB
PACRITINIB	4	PDGFRB
VANDETANIB	4	PDGFRB
NILOTINIB	4	PDGFRB
BOSUTINIB	4	PDGFRB
NINTEDANIB ESYLATE	4	PDGFRB
GILTERITINIB	4	PDGFRB
TOVORAFENIB	4	PDGFRB
PEXIDARTINIB	4	PDGFRB
PAZOPANIB	4	PDGFRB
NINTEDANIB	4	PDGFRB
SUNITINIB	4	PDGFRB
DASATINIB	4	PDGFRB
ERLOTINIB	4	PDGFRB
LAPATINIB	4	PDGFRB
QUIZARTINIB	4	PDGFRB
MIDOSTAURIN	4	PDGFRB
IMATINIB	4	PDGFRB
VATALANIB	3	PDGFRB
FAMITINIB	3	PDGFRB
MASITINIB	3	PDGFRB
CRENOLANIB	3	PDGFRB

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	2	CHRNA6, PDGFRB
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	2	SLC20A2, DUOX2
E	Difficult family or no structure, no drug	3	MYORG, SMIM19, PDGFB

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
MYORG	0	PDGFRB
PDGFB	3	PDGFRB
SLC20A2	1	—
DUOX2	1	—
SMIM19	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.