immunodeficiency 31B

Summary

immunodeficiency 31B (MONDO:0013427) is a disease caused by STAT1 (GenCC Definitive), with 2 cohort genes.

At a glance

• Causal gene: STAT1 (GenCC Definitive)
• Cohort genes: 2
• ClinVar variants: 609

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	immunodeficiency 31B
Mondo ID	MONDO:0013427
OMIM	613796
Orphanet	391311
DOID	DOID:0111944
UMLS	C3151088
MedGen	462438
GARD	0017612
Is cancer (heuristic)	no

Also known as: IMD31B · immunodeficiency 31B · immunodeficiency type 31B · STAT1 deficiency · susceptibility to viral and mycobacterial infections

Data availability: 609 ClinVar variants · 5 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 recessive disease › immunodeficiency 31B

Related subtypes (218): immunodeficiency-centromeric instability-facial anomalies syndrome, hypercalcemia, infantile, Ochoa syndrome, autosomal recessive Ehlers-Danlos syndrome, vascular type, hydrolethalus syndrome, 3-M syndrome, isolated hyperchlorhidrosis, dacryocystitis-osteopoikilosis syndrome, Hutchinson-Gilford progeria syndrome, achalasia microcephaly syndrome, acrorenal syndrome, autosomal recessive, beta-ketothiolase deficiency, autosomal recessive Alport syndrome, Alstrom syndrome, microphthalmia with limb anomalies, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Behr syndrome, bifid nose, autosomal recessive, Bloom syndrome, Bowen-Conradi syndrome, camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia, heart defects-limb shortening syndrome, autosomal recessive palmoplantar keratoderma and congenital alopecia, COFS syndrome, craniometaphyseal dysplasia, autosomal recessive, Fraser syndrome, cystic fibrosis, polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly, persistent hyperplastic primary vitreous, autosomal recessive, Donnai-Barrow syndrome, Schöpf-Schulz-Passarge syndrome, cleft lip/palate-ectodermal dysplasia syndrome, Ellis-van Creveld syndrome, Wolcott-Rallison syndrome, autosomal recessive faciodigitogenital syndrome, acromesomelic dysplasia 2B, brittle cornea syndrome, triple-A syndrome, autosomal recessive humeroradial synostosis, multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome, hydrocephalus, nonsyndromic, autosomal recessive 1, autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius, hypertelorism, microtia, facial clefting syndrome, hypoparathyroidism-retardation-dysmorphism syndrome, Vici syndrome, Johanson-Blizzard syndrome, autosomal recessive Kenny-Caffey syndrome, Papillon-Lefevre disease, Haim-Munk syndrome, Laurence-Moon syndrome, Donohue syndrome, lipase deficiency, combined, autosomal recessive familial Mediterranean fever, thiamine-responsive megaloblastic anemia syndrome, cartilage-hair hypoplasia, Nijmegen breakage syndrome, pseudo-TORCH syndrome, Galloway-Mowat syndrome, mulibrey nanism, myotonia congenita, autosomal recessive, Schwartz-Jampel syndrome, proteosome-associated autoinflammatory syndrome, Netherton syndrome, Niemann-Pick disease type A, oculodentodigital dysplasia, autosomal recessive, odonto-onycho-dermal dysplasia, autosomal recessive omodysplasia, osteoporosis-pseudoglioma syndrome, Shwachman-Diamond syndrome, phenylketonuria, Bjornstad syndrome, Laron syndrome, autosomal recessive polycystic kidney disease, autosomal recessive inherited pseudoxanthoma elasticum, autosomal recessive multiple pterygium syndrome, rapadilino syndrome, short-rib thoracic dysplasia 9 with or without polydactyly, autosomal recessive Robinow syndrome, Sjogren-Larsson syndrome, scapuloperoneal spinal muscular atrophy, autosomal recessive, spondyloepiphyseal dysplasia tarda, autosomal recessive, inherited threoninemia, Pendred syndrome, autosomal recessive spondylocostal dysostosis, Werner syndrome, ABCD syndrome, Naxos disease, autosomal recessive amelia, human HOXA1 syndromes, sickle cell disease, autosomal recessive proximal renal tubular acidosis, hyper-IgM syndrome type 2, temtamy preaxial brachydactyly syndrome, TH-deficient dopa-responsive dystonia, craniosynostosis syndrome, autosomal recessive, Niemann-Pick disease type B, skin fragility-woolly hair-palmoplantar keratoderma syndrome, CoQ-responsive OXPHOS deficiency, familial adenomatous polyposis 2, Pierson syndrome, palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome, cardiomyopathy-hypotonia-lactic acidosis syndrome, PHARC syndrome, Kahrizi syndrome, cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, congenital prothrombin deficiency, dyskeratosis congenita, autosomal recessive 2, dyskeratosis congenita, autosomal recessive 3, Nestor-Guillermo progeria syndrome, leukoencephalopathy with calcifications and cysts, mitochondrial pyruvate carrier deficiency, branched-chain keto acid dehydrogenase kinase deficiency, dyskeratosis congenita, autosomal recessive 5, hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, alacrima, achalasia, and intellectual disability syndrome, hyperlipoproteinemia, type 1D, microcephaly and chorioretinopathy 2, congenital stationary night blindness 1G, combined oxidative phosphorylation deficiency 29, hypermanganesemia with dystonia 2, growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, gnb5-related intellectual disability-cardiac arrhythmia syndrome, autosomal recessive spastic paraplegia type 78, autosomal recessive limb-girdle muscular dystrophy, Bardet-Biedl syndrome, autosomal recessive cerebellar ataxia, neuronopathy, distal hereditary motor, autosomal recessive, UV-sensitive syndrome, Ehlers-Danlos syndrome, kyphoscoliotic type 1, Cockayne syndrome, hyperphenylalaninemia due to tetrahydrobiopterin deficiency, leukoencephalopathy-palmoplantar keratoderma syndrome, autosomal recessive hypohidrotic ectodermal dysplasia, Warburg micro syndrome, autosomal recessive primary microcephaly, autosomal recessive progressive external ophthalmoplegia, Meier-Gorlin syndrome, autosomal recessive sideroblastic anemia, autosomal recessive intermediate Charcot-Marie-Tooth disease, Perrault syndrome, autosomal recessive hypophosphatemic rickets, de Barsy syndrome, leukocyte adhesion deficiency, Senior-Loken syndrome, autosomal recessive spastic ataxia, childhood-onset autosomal recessive myopathy with external ophthalmoplegia, autosomal recessive cerebral atrophy, GM3 synthase deficiency, autosomal recessive distal renal tubular acidosis, pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome, autosomal recessive brachyolmia, Aicardi-Goutieres syndrome, homocystinuria without methylmalonic aciduria, Niemann-Pick disease type C, nephronophthisis, autosomal recessive osteopetrosis, peroxisome biogenesis disorder, congenital non-bullous ichthyosiform erythroderma, Seckel syndrome, Usher syndrome, autosomal recessive cutis laxa type 1, autosomal recessive cutis laxa type 2, hearing loss, autosomal recessive, microcephaly, growth restriction, and increased sister chromatid exchange 2, encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1, congenital vertebral-cardiac-renal anomalies syndrome, hair defect with photosensitivity and intellectual disability syndrome, autosomal recessive severe congenital neutropenia, severe combined immunodeficiency due to CARMIL2 deficiency, extraoral halitosis due to methanethiol oxidase deficiency, neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, mitochondrial complex 2 deficiency, nuclear type 3, mitochondrial complex 2 deficiency, nuclear type 4, mismatch repair cancer syndrome, spondyloepimetaphyseal dysplasia with joint laxity, type 3, Kilquist syndrome, Duane anomaly-myopathy-scoliosis syndrome, autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect, immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome, optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome, congenital myopathy with reduced type 2 muscle fibers, NAD(P)HX dehydratase deficiency, autosomal recessive ocular albinism, ichthyosis linearis circumflexa, eosinophil peroxidase deficiency, hyperphenylalaninemia due to DNAJC12 deficiency, autosomal recessive epidermolytic ichthyosis, Ehlers-Danlos syndrome, classic-like, 2, joint laxity, short stature, and myopia, HELIX syndrome, auditory neuropathy-optic atrophy syndrome, glycosylphosphatidylinositol biosynthesis defect 15, neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, SCN4A-related myopathy, autosomal recessive, Uner Tan Syndrome, nephropathic cystinosis, Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome type 2, permanent neonatal diabetes mellitus 1, growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Rajab interstitial lung disease with brain calcifications 1, Roberts-SC phocomelia syndrome, neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, RPE65-related recessive retinopathy, GUCY2D-related recessive retinopathy, autosomal recessive titinopathy, intellectual disability, autosomal recessive, ALPL-related autosomal recessive hypophosphatasia, spastic paraplegia 18b, autosomal recessive, CEP164-related ciliopathy, RP1-related recessive retinopathy, pseudohypoaldosteronism, type IB2, autosomal recessive, pseudohypoaldosteronism, type IB3, autosomal recessive, spastic paraplegia 30B, autosomal recessive, cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1, brain small vessel disease 2B, autosomal recessive, IMPG1-related recessive retinopathy, PROM1-related recessive retinopathy

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:

295 likely benign, 200 uncertain significance, 37 pathogenic, 21 conflicting classifications of pathogenicity, 16 benign, 16 likely pathogenic, 14 benign/likely benign, 1 pathogenic/likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
1074337	NM_007315.4(STAT1):c.1398C>A (p.Ser466Arg)	STAT1	Pathogenic	criteria provided, single submitter
1354984	NM_007315.4(STAT1):c.1999_2000del (p.Leu667fs)	STAT1	Pathogenic	criteria provided, single submitter
1403340	NM_007315.4(STAT1):c.1231_1232del (p.Glu411fs)	STAT1	Pathogenic	criteria provided, single submitter
1420518	NM_007315.4(STAT1):c.802G>T (p.Glu268Ter)	STAT1	Pathogenic	criteria provided, single submitter
144006	NM_007315.4(STAT1):c.1154C>T (p.Thr385Met)	STAT1	Pathogenic	criteria provided, multiple submitters, no conflicts
1457465	NM_007315.4(STAT1):c.71_74dup (p.Ser25fs)	STAT1	Pathogenic	criteria provided, single submitter
1524110	NM_007315.4(STAT1):c.2102A>G (p.Tyr701Cys)	STAT1	Pathogenic	criteria provided, single submitter
160354	NM_007315.4(STAT1):c.820C>G (p.Arg274Gly)	STAT1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1686231	NM_007315.4(STAT1):c.514T>C (p.Phe172Leu)	STAT1	Pathogenic	criteria provided, single submitter
1710090	NM_007315.4(STAT1):c.373-2A>C	STAT1	Pathogenic	criteria provided, single submitter
2097602	NM_007315.4(STAT1):c.200A>C (p.Gln67Pro)	STAT1	Pathogenic	criteria provided, single submitter
2203238	NM_007315.4(STAT1):c.1162A>G (p.Lys388Glu)	STAT1	Pathogenic	criteria provided, single submitter
2203239	NM_007315.4(STAT1):c.1159A>G (p.Thr387Ala)	STAT1	Pathogenic	criteria provided, single submitter
2424633	NC_000002.11:g.(?191835429)(192012929_?)del	STAT1	Pathogenic	criteria provided, single submitter
2500092	NM_007315.4(STAT1):c.25C>T (p.Gln9Ter)	STAT1	Pathogenic	criteria provided, single submitter
285493	NM_007315.4(STAT1):c.88del (p.Ile30fs)	STAT1	Pathogenic	criteria provided, multiple submitters, no conflicts
2925337	NM_007315.4(STAT1):c.961A>G (p.Arg321Gly)	STAT1	Pathogenic	criteria provided, single submitter
2936500	NM_007315.4(STAT1):c.1688A>T (p.Glu563Val)	STAT1	Pathogenic	criteria provided, single submitter
2942064	NM_007315.4(STAT1):c.861C>G (p.Tyr287Ter)	STAT1	Pathogenic	criteria provided, single submitter
2948670	NM_007315.4(STAT1):c.1127+1G>A	STAT1	Pathogenic	criteria provided, single submitter
2952404	NM_007315.4(STAT1):c.1286_1287del (p.Glu429fs)	STAT1	Pathogenic	criteria provided, single submitter
30082	NM_007315.4(STAT1):c.603G>T (p.Lys201Asn)	STAT1	Pathogenic	no assertion criteria provided
30083	NM_007315.4(STAT1):c.820C>T (p.Arg274Trp)	STAT1	Pathogenic	criteria provided, multiple submitters, no conflicts
30084	NM_007315.4(STAT1):c.800C>T (p.Ala267Val)	STAT1	Pathogenic	criteria provided, multiple submitters, no conflicts
30085	NM_007315.4(STAT1):c.821G>A (p.Arg274Gln)	STAT1	Pathogenic	criteria provided, multiple submitters, no conflicts
30087	NM_007315.4(STAT1):c.604A>G (p.Met202Val)	STAT1	Pathogenic	criteria provided, single submitter
30090	NM_007315.4(STAT1):c.862A>G (p.Thr288Ala)	STAT1	Pathogenic	criteria provided, single submitter
3750632	NM_007315.4(STAT1):c.679dup (p.Thr227fs)	STAT1	Pathogenic	criteria provided, single submitter
3757694	NM_007315.4(STAT1):c.770del (p.Asp257fs)	STAT1	Pathogenic	criteria provided, single submitter
4783914	NM_007315.4(STAT1):c.1833del (p.Ile612fs)	STAT1	Pathogenic	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 14 · Orphanet: 3 · 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
STAT1	Definitive	Autosomal recessive	immunodeficiency 31B	14

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
STAT1	Orphanet:319595	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1	Orphanet:391311	Susceptibility to viral and mycobacterial infections due to STAT1 deficiency
STAT1	Orphanet:391487	STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections 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
STAT1	HGNC:11362	ENSG00000115415	P42224	Signal transducer and activator of transcription 1-alpha/beta	gencc,clinvar
ANKAR	HGNC:26350	ENSG00000151687	Q7Z5J8	Ankyrin and armadillo repeat-containing protein	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
STAT1	Signal transducer and activator of transcription 1-alpha/beta	Signal transducer and transcription activator that mediates cellular responses to interferons (IFNs), cytokine KITLG/SCF and other cytokines and other growth factors.

Protein-family classification

Druggable: 0 · Difficult: 2 · Unknown: 0 · 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
Scaffold/PPI	1	8.6×	0.225
Transcription factor	1	4.1×	0.228

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
STAT1	Transcription factor	no		SH2, STAT, p53-like_TF_DNA-bd_sf
ANKAR	Scaffold/PPI	no		Armadillo, Ankyrin_rpt, ARM-like

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)	2
unknown	0

Top tissues across cohort

Tissue	Cohort genes
epithelium of nasopharynx	1
mononuclear cell	1
vermiform appendix	1
calcaneal tendon	1
left ovary	1
male germ line stem cell (sensu Vertebrata) in testis	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
STAT1	294	ubiquitous	marker	epithelium of nasopharynx, vermiform appendix, mononuclear cell
ANKAR	163	ubiquitous	yes	calcaneal tendon, male germ line stem cell (sensu Vertebrata) in testis, left ovary

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
STAT1	6,459
ANKAR	573

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
STAT1	P42224	10

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
ANKAR	Q7Z5J8	84.79

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 64. Enrichment computed across 2 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
Signaling by PDGFR in disease	1	1631.4×	0.006	STAT1
Interleukin-6 family signaling	1	1427.5×	0.006	STAT1
Interleukin-9 signaling	1	1268.9×	0.006	STAT1
FGFR1 mutant receptor activation	1	1142.0×	0.006	STAT1
Interleukin-21 signaling	1	1142.0×	0.006	STAT1
Signaling by KIT in disease	1	1142.0×	0.006	STAT1
Interleukin-27 signaling	1	1038.2×	0.006	STAT1
Interleukin-6 signaling	1	951.7×	0.006	STAT1
Interleukin-35 Signalling	1	951.7×	0.006	STAT1
Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants	1	878.5×	0.006	STAT1
Signaling by PDGFRA extracellular domain mutants	1	878.5×	0.006	STAT1
Differentiation of naive CD4+ T cells to T helper 1 cells (Th1 cells)	1	878.5×	0.006	STAT1
Regulation of IFNG signaling	1	815.7×	0.006	STAT1
Signaling by cytosolic FGFR1 fusion mutants	1	634.4×	0.006	STAT1
Interleukin-2 family signaling	1	634.4×	0.006	STAT1
Signaling by CSF3 (G-CSF)	1	571.0×	0.006	STAT1
Signaling by NOTCH3	1	519.1×	0.006	STAT1
Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants	1	519.1×	0.006	STAT1
Interleukin-12 family signaling	1	475.8×	0.006	STAT1
Growth hormone receptor signaling	1	475.8×	0.006	STAT1
NOTCH3 Intracellular Domain Regulates Transcription	1	439.2×	0.006	STAT1
Regulation of IFNA/IFNB signaling	1	439.2×	0.006	STAT1
Inactivation of CSF3 (G-CSF) signaling	1	439.2×	0.006	STAT1
Signaling by FGFR in disease	1	423.0×	0.006	STAT1
Interleukin-20 family signaling	1	423.0×	0.006	STAT1
Downstream signal transduction	1	380.7×	0.006	STAT1
Downregulation of SMAD2/3:SMAD4 transcriptional activity	1	368.4×	0.006	STAT1
Turbulent (oscillatory, disturbed) flow shear stress activates signaling by PIEZO1 and integrins in endothelial cells	1	356.9×	0.006	STAT1
Signaling by CSF1 (M-CSF) in myeloid cells	1	346.1×	0.006	STAT1
Response of endothelial cells to shear stress	1	300.5×	0.007	STAT1

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
negative regulation of metanephric nephron tubule epithelial cell differentiation	1	16852.0×	0.002	STAT1
negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis	1	8426.0×	0.002	STAT1
negative regulation by virus of viral protein levels in host cell	1	8426.0×	0.002	STAT1
metanephric mesenchymal cell proliferation involved in metanephros development	1	5617.3×	0.002	STAT1
renal tubule development	1	4213.0×	0.002	STAT1
metanephric mesenchymal cell differentiation	1	3370.4×	0.002	STAT1
interleukin-27-mediated signaling pathway	1	2407.4×	0.002	STAT1
interleukin-7-mediated signaling pathway	1	2106.5×	0.002	STAT1
interleukin-9-mediated signaling pathway	1	2106.5×	0.002	STAT1
response to interferon-beta	1	1532.0×	0.003	STAT1
type II interferon-mediated signaling pathway	1	1203.7×	0.003	STAT1
positive regulation of interferon-alpha production	1	648.1×	0.004	STAT1
positive regulation of mesenchymal cell proliferation	1	601.9×	0.004	STAT1
cell surface receptor signaling pathway via STAT	1	561.7×	0.004	STAT1
negative regulation of endothelial cell proliferation	1	543.6×	0.004	STAT1
positive regulation of defense response to virus by host	1	526.6×	0.004	STAT1
response to type II interferon	1	526.6×	0.004	STAT1
cellular response to interferon-beta	1	526.6×	0.004	STAT1
blood circulation	1	510.7×	0.004	STAT1
positive regulation of erythrocyte differentiation	1	510.7×	0.004	STAT1
response to cAMP	1	510.7×	0.004	STAT1
response to hydrogen peroxide	1	468.1×	0.004	STAT1
positive regulation of nitric oxide biosynthetic process	1	455.5×	0.004	STAT1
response to peptide hormone	1	391.9×	0.005	STAT1
type I interferon-mediated signaling pathway	1	343.9×	0.005	STAT1
tumor necrosis factor-mediated signaling pathway	1	330.4×	0.005	STAT1
positive regulation of smooth muscle cell proliferation	1	330.4×	0.005	STAT1
response to mechanical stimulus	1	300.9×	0.005	STAT1
response to nutrient	1	295.6×	0.005	STAT1
cell surface receptor signaling pathway via JAK-STAT	1	290.6×	0.005	STAT1

Therapeutics

Drug target analysis

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

Druggability breadth: 1 of 2 evidence-associated genes (50%) 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
STAT1	FILGOTINIB

Top cohort targets by molecule count

Symbol	Molecules	Max phase
STAT1	5	4
ANKAR	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
FILGOTINIB	4	STAT1
DEUCRAVACITINIB	4	STAT1
EPIGALOCATECHIN GALLATE	3	STAT1
SURAMIN HEXASODIUM	3	STAT1
IPRIFLAVONE	2	STAT1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

Symbol	Assays	Type breakdown
STAT1	147	Binding:137, Functional:8, Unclassified:2

Cohort genes with high screening signal

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

Symbol	ChEMBL assays
STAT1	147

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

5 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)
FILGOTINIB	4	STAT1
DEUCRAVACITINIB	4	STAT1
EPIGALOCATECHIN GALLATE	3	STAT1
SURAMIN HEXASODIUM	3	STAT1
IPRIFLAVONE	2	STAT1

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	STAT1
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	1	ANKAR

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
ANKAR	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.