Type 1 diabetes mellitus

Summary

Type 1 diabetes mellitus (MONDO:0005147) is a disease with 75 cohort genes (1,437 GWAS associations across 95 studies) and 2,024 clinical trials. The dominant Reactome pathway is Interferon gamma signaling (13 cohort genes). Top therapeutic interventions include insulin glargine, insulin lispro, and glucagon.

At a glance

• Cohort genes: 75
• GWAS associations: 1,437
• ClinVar variants: 165
• Clinical trials: 2,024

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	type 1 diabetes mellitus
Mondo ID	MONDO:0005147
MeSH	D003922
OMIM	222100
Orphanet	243377
DOID	DOID:9744
ICD-10-CM	E10
ICD-11	1651053999
NCIT	C2986
SNOMED CT	46635009
UMLS	C0011854
MedGen	41522
Is cancer (heuristic)	no

Also known as: diabetes mellitis type 1 · diabetes mellitis type I · IDDM · immune mediated diabetes · insulin dependent diabetes · juvenile diabetes · T1D · T1DM · type 1 diabetes · type I diabetes · type I diabetes mellitus

Data availability: 165 ClinVar variants · 1,437 GWAS associations (95 studies) · 155 cell lines.

Disease family

An umbrella term covering 1 Mondo subtype.

Classification path: disease › human disease › disease by body system or component › endocrine system disorder › autoimmune disorder of endocrine system › type 1 diabetes mellitus

Related subtypes (12): autoimmune thyroid disease, immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome, autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, autoimmune pancreatitis, autoimmune hepatitis, autoimmune polyendocrinopathy, autoimmune hypoparathyroidism, insulin autoimmune syndrome, IgG4-related sclerosing cholangitis, lymphocytic hypophysitis, autoimmune oophoritis, autoimmune primary ovarian failure

Subtypes (1): latent autoimmune diabetes in adults

Genetics & variants

GWAS landscape

1,437 GWAS associations across 95 studies. Top hits map to 11 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs9271365	8e-317	HLA-DRB1 - HLA-DQA1	T	1.3
chr6:32684938	2e-308		A	0.29
chr6:31517324	2e-308		C	2.56
chr6:32405601	4e-308		T	6.98
chr6:32535377	2e-306		A	0.11
rs9273367	6e-306	HLA-DQA1 - HLA-DQB1	T	0.73
chr6:32234432	1e-305		C	3.25
chr6:31635993	1e-302		G	2.71
chr6:31275040	2e-286		A	0.44
chr6:32061428	7e-285		A	3.12
chr6:31951083	1e-283		G	3.1
chr6:31799896	4e-282		TA	3.08
chr6:31395249	3e-279		T	2.42
chr6:32836793	9e-273		A	2.24
chr6:30801949	1e-271		T	2.38
rs9784758	1e-237	HLA-DOB - TAP2	?
rs1770	2e-232	HLA-DQB1-AS1, HLA-DQB1	G	4.28
chr6:31135418	2e-219		G	2.57
rs1150755	2e-217	TNXB	?
chr6:30964532	2e-202		T	1.99
chr6:32978829	9e-202		C	2.7
rs689	5e-196	INS-IGF2, INS	A
rs3763365	3e-191	TAP2 - PSMB8	?
chr6:33160210	2e-151		C	1.77
chr6:30387407	2e-151		G	2.26
rs580962	6e-149	HLA-DMA	?
rs9273363	5e-138	HLA-DQA1 - HLA-DQB1	A	5.48
rs2476601	5e-135	AP4B1-AS1, PTPN22	A	1.72
rs9272346	5e-134	HLA-DQA1	G	5.49
chr6:30685004	2e-133		T	2.17

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST011539	Inshaw JRJ	2021	81,591	834,224	Analysis of overlapping genetic association in type 1 and type 2 diabetes.
GCST90013445	Robertson CC	2021	20,065	33,065	Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.
GCST90014023	Chiou J	2021	18,942	501,638	Interpreting type 1 diabetes risk with genetics and single-cell epigenomics.
GCST90013791	Crouch DJM	2025	15,573	158,408	Bayesian Effect Size Ranking to Prioritise Genetic Risk Variants in Common Diseases for Follow-Up Studies.
GCST90013446	Robertson CC	2021	13,458	20,143	Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.
GCST005321	Broce I	2018	12,577	23,475	Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies.
GCST001255	Bradfield JP	2011	9,934	16,956	A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.
GCST010681	Forgetta V	2020	9,266	15,574	Rare Genetic Variants of Large Effect Influence Risk of Type 1 Diabetes.
GCST001191	Plagnol V	2011	8,506	10,596	Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
GCST000392	Barrett JC	2009	7,514	9,045	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	1
Tier 2: splice/UTR	2
Tier 3: regulatory	2
Tier 4: intronic/intergenic	45

MAF distribution

Bucket	Variants
common (>=0.05)	15
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	35

Functional consequences

Consequence	Count
unknown	35
intergenic_variant	6
intron_variant	4
splice_region_variant	2
TF_binding_site_variant	1
missense_variant	1
regulatory_region_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs9271365	6	32619017	T>A,C,G	0.05	intergenic_variant	HLA-DRB1 - HLA-DQA1		Tier 4: intronic/intergenic
chr6:32684938							2e-308	Tier 4: intronic/intergenic
chr6:31517324							2e-308	Tier 4: intronic/intergenic
chr6:32405601							4e-308	Tier 4: intronic/intergenic
chr6:32535377							2e-306	Tier 4: intronic/intergenic
rs9273367	6	32658661	A>C,T	0.05	TF_binding_site_variant	HLA-DQA1 - HLA-DQB1	6e-306	Tier 3: regulatory
chr6:32234432							1e-305	Tier 4: intronic/intergenic
chr6:31635993							1e-302	Tier 4: intronic/intergenic
chr6:31275040							2e-286	Tier 4: intronic/intergenic
chr6:32061428							7e-285	Tier 4: intronic/intergenic
chr6:31951083							1e-283	Tier 4: intronic/intergenic
chr6:31799896							4e-282	Tier 4: intronic/intergenic
chr6:31395249							3e-279	Tier 4: intronic/intergenic
chr6:32836793							9e-273	Tier 4: intronic/intergenic
chr6:30801949							1e-271	Tier 4: intronic/intergenic
rs9784758	6	32820734	T>C	0.05	intron_variant	HLA-DOB - TAP2	1e-237	Tier 4: intronic/intergenic
rs1770	6	32660056	A>G,T	0.46	splice_region_variant	HLA-DQB1-AS1, HLA-DQB1	2e-232	Tier 2: splice/UTR
chr6:31135418							2e-219	Tier 4: intronic/intergenic
rs1150755	6	32070773	C>A,G,T	0.05	intron_variant	TNXB	2e-217	Tier 4: intronic/intergenic
chr6:30964532							2e-202	Tier 4: intronic/intergenic
chr6:32978829							9e-202	Tier 4: intronic/intergenic
rs689	11	2160994	A>G,T	0.05	splice_region_variant	INS-IGF2, INS	5e-196	Tier 2: splice/UTR
rs3763365	6	32839676	A>C,G	0.05	intergenic_variant	TAP2 - PSMB8	3e-191	Tier 4: intronic/intergenic
chr6:33160210							2e-151	Tier 4: intronic/intergenic
chr6:30387407							2e-151	Tier 4: intronic/intergenic
rs580962	6	32957915	C>T	0.05	intergenic_variant	HLA-DMA	6e-149	Tier 4: intronic/intergenic
rs9273363	6	32658495	C>A,G	0.13	intergenic_variant	HLA-DQA1 - HLA-DQB1	5e-138	Tier 4: intronic/intergenic
rs2476601	1	113834946	A>G,T	0.103	missense_variant	AP4B1-AS1, PTPN22	5e-135	Tier 1: coding
rs9272346	6	32636595	G>A,T	0.39	intergenic_variant	HLA-DQA1	5e-134	Tier 4: intronic/intergenic
chr6:30685004							2e-133	Tier 4: intronic/intergenic

ClinVar germline variants

165 retrieved; paginated sample, class counts are floors:

86 uncertain significance, 28 conflicting classifications of pathogenicity, 11 pathogenic, 10 likely pathogenic, 9 benign, 8 likely benign, 7 benign/likely benign, 4 uncertain significance/uncertain risk allele, 1 pathogenic/likely pathogenic/likely risk allele, 1 pathogenic/likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
129235	NM_000545.8(HNF1A):c.608G>A (p.Arg203His)	HNF1A	Pathogenic	reviewed by expert panel
14927	NM_000545.8(HNF1A):c.872dup (p.Gly292fs)	HNF1A	Pathogenic	reviewed by expert panel
14928	NM_000545.8(HNF1A):c.1340C>T (p.Pro447Leu)	HNF1A	Pathogenic	reviewed by expert panel
1693221	NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu)	HNF1A	Pathogenic	reviewed by expert panel
3574303	NM_000545.8(HNF1A):c.1456C>T (p.Gln486Ter)	HNF1A	Pathogenic	criteria provided, single submitter
36824	NM_000545.5(HNF1A):c.598C>T (p.Arg200Trp)	HNF1A	Pathogenic	reviewed by expert panel
372380	NM_000545.8(HNF1A):c.526C>T (p.Gln176Ter)	HNF1A	Pathogenic	reviewed by expert panel
379138	NM_000545.8(HNF1A):c.788G>A (p.Arg263His)	HNF1A	Pathogenic	reviewed by expert panel
420064	NM_000545.8(HNF1A):c.685C>T (p.Arg229Ter)	HNF1A	Pathogenic	reviewed by expert panel
447503	NM_000545.8(HNF1A):c.814C>T (p.Arg272Cys)	HNF1A	Pathogenic	reviewed by expert panel
562373	NM_000545.8(HNF1A):c.392G>A (p.Arg131Gln)	HNF1A	Pathogenic	reviewed by expert panel
817605	NM_000545.8(HNF1A):c.864delinsCC (p.Gly292fs)	HNF1A	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
13392	NM_000207.3(INS):c.163C>T (p.Arg55Cys)	INS	Pathogenic/Likely pathogenic/Likely risk allele	criteria provided, multiple submitters, no conflicts
1179147	NM_000545.8(HNF1A):c.1310-2A>G	HNF1A	Likely pathogenic	criteria provided, multiple submitters, no conflicts
3574277	NM_000545.8(HNF1A):c.-64_-55delinsGC	HNF1A	Likely pathogenic	criteria provided, multiple submitters, no conflicts
3574278	NM_000545.8(HNF1A):c.3G>A (p.Met1Ile)	HNF1A	Likely pathogenic	criteria provided, single submitter
3574308	NM_000545.8(HNF1A):c.1555_1556dup (p.Gln520fs)	HNF1A	Likely pathogenic	criteria provided, single submitter
3574309	NM_000545.8(HNF1A):c.1575_1576delinsA (p.Asp526fs)	HNF1A	Likely pathogenic	criteria provided, single submitter
3574311	NM_000545.8(HNF1A):c.1715del (p.Pro572fs)	HNF1A	Likely pathogenic	criteria provided, single submitter
3574313	NM_000545.8(HNF1A):c.1720delinsGGCATCCAGCACCG (p.Ser574fs)	HNF1A	Likely pathogenic	criteria provided, single submitter
36832	NM_000545.8(HNF1A):c.827C>G (p.Ala276Gly)	HNF1A	Likely pathogenic	reviewed by expert panel
430837	NM_000545.8(HNF1A):c.1501+1G>A	HNF1A	Likely pathogenic	reviewed by expert panel
435424	NM_000545.8(HNF1A):c.864del (p.Pro291fs)	HNF1A	Likely pathogenic	reviewed by expert panel
994545	NM_000545.8(HNF1A):c.1769T>C (p.Val590Ala)	C12orf43	Uncertain significance/Uncertain risk allele	criteria provided, multiple submitters, no conflicts
402948	NM_000545.8(HNF1A):c.923C>T (p.Pro308Leu)	HNF1A	Uncertain significance/Uncertain risk allele	criteria provided, multiple submitters, no conflicts
882514	NM_000545.8(HNF1A):c.1727A>C (p.Gln576Pro)	HNF1A	Uncertain significance/Uncertain risk allele	criteria provided, multiple submitters, no conflicts
884166	NM_000545.8(HNF1A):c.499G>A (p.Val167Ile)	HNF1A	Uncertain significance/Uncertain risk allele	criteria provided, multiple submitters, no conflicts
36813	NM_000545.8(HNF1A):c.1854C>G (p.Ile618Met)	C12orf43	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
268095	NM_014009.4(FOXP3):c.398C>T (p.Pro133Leu)	FOXP3	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1025247	NM_000545.8(HNF1A):c.780G>A (p.Thr260=)	HNF1A	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 67 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 2

Dual-evidence genes (GWAS + Mendelian — highest-confidence targets)

Gene	HGNC	Evidence routes
INS	INS	GWAS, Orphanet
CDKN1C	CDKN1C	GWAS, Orphanet

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
INS	Orphanet:552	MODY
INS	Orphanet:99885	Isolated permanent neonatal diabetes mellitus
CFB	Orphanet:544472	Atypical hemolytic uremic syndrome with complement gene abnormality
SLC1A2	Orphanet:442835	Non-specific early-onset epileptic encephalopathy
STAT4	Orphanet:117	Behçet disease
STAT4	Orphanet:536	Systemic lupus erythematosus
STAT4	Orphanet:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
STAT4	Orphanet:85410	Oligoarticular juvenile idiopathic arthritis
STAT4	Orphanet:93552	Pediatric systemic lupus erythematosus
BTNL2	Orphanet:797	Sarcoidosis
SUOX	Orphanet:99731	Isolated sulfite oxidase deficiency
TBP	Orphanet:98759	Spinocerebellar ataxia type 17
HNF1A	Orphanet:319303	Chromophobe renal cell carcinoma
HNF1A	Orphanet:324575	Hyperinsulinism due to HNF1A deficiency
HNF1A	Orphanet:404511	Clear cell papillary renal cell carcinoma
HNF1A	Orphanet:552	MODY
TH	Orphanet:101150	Autosomal recessive dopa-responsive dystonia
TLL1	Orphanet:99103	Atrial septal defect, ostium secundum type
TLL1	Orphanet:99106	Atrial septal defect, ostium primum type
TNFAIP3	Orphanet:536	Systemic lupus erythematosus
TNFAIP3	Orphanet:674762	Early-onset autoinflammatory syndrome due to A20 haploinsufficiency
TNFSF15	Orphanet:186	Primary biliary cholangitis
CD40LG	Orphanet:101088	X-linked hyper-IgM syndrome
FASLG	Orphanet:3261	Autoimmune lymphoproliferative syndrome
TNXB	Orphanet:230839	Classical-like Ehlers-Danlos syndrome type 1
TNXB	Orphanet:289365	Familial vesicoureteral reflux
TYK2	Orphanet:300865	Primary cutaneous anaplastic large cell lymphoma
TYK2	Orphanet:331226	Susceptibility to infection due to TYK2 deficiency
TYK2	Orphanet:98842	Lymphomatoid papulosis
UMOD	Orphanet:88950	UMOD-related autosomal dominant tubulointerstitial kidney disease
IKZF1	Orphanet:317473	Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency
IKZF1	Orphanet:36426	Stevens-Johnson syndrome
IKZF1	Orphanet:585909	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
IKZF1	Orphanet:695172	Combined immunodeficiency due to dimerization defective IKAROS mutation
IKZF1	Orphanet:697414	Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutation
IKZF3	Orphanet:67038	B-cell chronic lymphocytic leukemia
IKZF3	Orphanet:699590	Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency
IKZF3	Orphanet:699593	Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency
BCL11A	Orphanet:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
BCL11A	Orphanet:619233	Hereditary persistence of fetal hemoglobin-intellectual disability syndrome
SLC4A10	Orphanet:664430	Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome
PRDM16	Orphanet:154	Familial isolated dilated cardiomyopathy
PRDM16	Orphanet:1606	1p36 deletion syndrome
PRDM16	Orphanet:54260	Left ventricular noncompaction
BACH2	Orphanet:714472	Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndrome
MEG3	Orphanet:254525	Temple syndrome due to paternal 14q32.2 microdeletion
MEG3	Orphanet:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
MEG3	Orphanet:254531	Temple syndrome due to paternal 14q32.2 hypomethylation
MEG3	Orphanet:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
MEG3	Orphanet:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14

Cohort genes → proteins

75 cohort genes, 72 distinct canonical proteins.

Evidence partition

Subset	Genes
gwas_only	73
gwas_and_clinvar	1
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
INS	HGNC:6081	ENSG00000254647	P01308	Insulin	gwas,clinvar
CFB	HGNC:1037	ENSG00000243649	P00751	Complement factor B	gwas
RUNX3	HGNC:10473	ENSG00000020633	Q13761	Runt-related transcription factor 3	gwas
SLC1A2	HGNC:10940	ENSG00000110436	P43004	Excitatory amino acid transporter 2	gwas
BTF3P11	HGNC:1126	ENSG00000118903		basic transcription factor 3 pseudogene 11	gwas
STAT4	HGNC:11365	ENSG00000138378	Q14765	Signal transducer and activator of transcription 4	gwas
BTN3A1	HGNC:1138	ENSG00000026950	O00481	Butyrophilin subfamily 3 member A1	gwas
BTNL2	HGNC:1142	ENSG00000204290	Q9UIR0	Butyrophilin-like protein 2	gwas
SUOX	HGNC:11460	ENSG00000139531	P51687	Sulfite oxidase, mitochondrial	gwas
TBP	HGNC:11588	ENSG00000112592	P20226	TATA-box-binding protein	gwas
HNF1A	HGNC:11621	ENSG00000135100	P20823	Hepatocyte nuclear factor 1-alpha	clinvar
DYNLT2	HGNC:11695	ENSG00000184786	Q8IZS6	Dynein light chain Tctex-type protein 2	gwas
TH	HGNC:11782	ENSG00000180176	P07101	Tyrosine 3-monooxygenase	gwas
TLL1	HGNC:11843	ENSG00000038295	O43897	Tolloid-like protein 1	gwas
TNF	HGNC:11892	ENSG00000232810	P01375	Tumor necrosis factor	gwas
TNFAIP3	HGNC:11896	ENSG00000118503	P21580	Tumor necrosis factor alpha-induced protein 3	gwas
TNFRSF6B	HGNC:11921	ENSG00000243509	O95407	Tumor necrosis factor receptor superfamily member 6B	gwas
TNFSF15	HGNC:11931	ENSG00000181634	O95150	Tumor necrosis factor ligand superfamily member 15	gwas
TNFSF18	HGNC:11932	ENSG00000120337	Q9UNG2	Tumor necrosis factor ligand superfamily member 18	gwas
CD40LG	HGNC:11935	ENSG00000102245	P29965	CD40 ligand	gwas
FASLG	HGNC:11936	ENSG00000117560	P48023	Tumor necrosis factor ligand superfamily member 6	gwas
TNP2	HGNC:11952	ENSG00000178279	Q05952	Nuclear transition protein 2	gwas
TNXB	HGNC:11976	ENSG00000168477	P22105	Tenascin-X	gwas
EIPR1	HGNC:12383	ENSG00000032389	Q53HC9	EARP and GARP complex-interacting protein 1	gwas
TYK2	HGNC:12440	ENSG00000105397	P29597	Non-receptor tyrosine-protein kinase TYK2	gwas
UBASH3A	HGNC:12462	ENSG00000160185	P57075	Ubiquitin-associated and SH3 domain-containing protein A	gwas
UMOD	HGNC:12559	ENSG00000169344	P07911	Uromodulin	gwas
IKZF1	HGNC:13176	ENSG00000185811	Q13422	DNA-binding protein Ikaros	gwas
IKZF3	HGNC:13178	ENSG00000161405	Q9UKT9	Zinc finger protein Aiolos	gwas
IKZF4	HGNC:13179	ENSG00000123411	Q9H2S9	Zinc finger protein Eos	gwas
BCL11A	HGNC:13221	ENSG00000119866	Q9H165	BCL11 transcription factor A	gwas
DEXI	HGNC:13267	ENSG00000182108	O95424	Dexamethasone-induced protein	gwas
PRM3	HGNC:13732	ENSG00000178257	Q9NNZ6	Protamine-3	gwas
SLC4A10	HGNC:13811	ENSG00000144290	Q6U841	Sodium-driven chloride bicarbonate exchanger	gwas
PRRC2A	HGNC:13918	ENSG00000204469	P48634	Protein PRRC2A	gwas
TSBP1	HGNC:13922	ENSG00000204296	Q5SRN2	Testis-expressed basic protein 1	gwas
C6orf15	HGNC:13927	ENSG00000204542	Q6UXA7	Uncharacterized protein C6orf15	gwas
PRDM16	HGNC:14000	ENSG00000142611	Q9HAZ2	Histone-lysine N-methyltransferase PRDM16	gwas
IGF2-AS	HGNC:14062	ENSG00000099869	Q6U949	Putative insulin-like growth factor 2 antisense gene protein	gwas
BACH2	HGNC:14078	ENSG00000112182	Q9BYV9	Transcription regulator protein BACH2	gwas
LPAR3	HGNC:14298	ENSG00000171517	Q9UBY5	Lysophosphatidic acid receptor 3	gwas
PLEKHA1	HGNC:14335	ENSG00000107679	Q9HB21	Pleckstrin homology domain-containing family A member 1	gwas
C1QTNF6	HGNC:14343	ENSG00000133466	Q9BXI9	Complement C1q tumor necrosis factor-related protein 6	gwas
MEG3	HGNC:14575	ENSG00000214548		maternally expressed 3	gwas
CAMK4	HGNC:1464	ENSG00000152495	Q16566	Calcium/calmodulin-dependent protein kinase type IV	gwas
RTL1	HGNC:14665	ENSG00000254656	A6NKG5	Retrotransposon-like protein 1	gwas
QRFPR	HGNC:15565	ENSG00000186867	Q96P65	Pyroglutamylated RF-amide peptide receptor	gwas
TAGAP	HGNC:15669	ENSG00000164691	Q8N103	T-cell activation Rho GTPase-activating protein	gwas
SEPTIN6	HGNC:15848	ENSG00000125354	Q14141	Septin-6	gwas
ORMDL3	HGNC:16038	ENSG00000172057	Q8N138	ORM1-like protein 3	gwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
INS	Insulin	Insulin decreases blood glucose concentration.
CFB	Complement factor B	Precursor of the catalytic component of the C3 and C5 convertase complexes of the alternative pathway of the complement system, a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the…
RUNX3	Runt-related transcription factor 3	Forms the heterodimeric complex core-binding factor (CBF) with CBFB.
SLC1A2	Excitatory amino acid transporter 2	Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate.
STAT4	Signal transducer and activator of transcription 4	Transcriptional regulator mainly expressed in hematopoietic cells that plays a critical role in cellular growth, differentiation and immune response.
BTN3A1	Butyrophilin subfamily 3 member A1	Plays a role in T-cell activation and in the adaptive immune response.
BTNL2	Butyrophilin-like protein 2	Negative regulator of T-cell proliferation.
SUOX	Sulfite oxidase, mitochondrial	Catalyzes the oxidation of sulfite to sulfate, the terminal reaction in the oxidative degradation of sulfur-containing amino acids.
TBP	TATA-box-binding protein	The TFIID basal transcription factor complex plays a major role in the initiation of RNA polymerase II (Pol II)-dependent transcription.
HNF1A	Hepatocyte nuclear factor 1-alpha	Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver.
DYNLT2	Dynein light chain Tctex-type protein 2	Component of dynein, a family of motor proteins essential for movement along microtubules.
TH	Tyrosine 3-monooxygenase	Catalyzes the conversion of L-tyrosine to L-dihydroxyphenylalanine (L-Dopa), the rate-limiting step in the biosynthesis of catecholamines, dopamine, noradrenaline, and adrenaline.
TLL1	Tolloid-like protein 1	Protease which processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-lysyl oxidase.
TNF	Tumor necrosis factor	Cytokine that binds to TNFRSF1A/TNFR1 and TNFRSF1B/TNFBR.
TNFAIP3	Tumor necrosis factor alpha-induced protein 3	Ubiquitin-editing enzyme that contains both ubiquitin ligase and deubiquitinase activities.
TNFRSF6B	Tumor necrosis factor receptor superfamily member 6B	Decoy receptor that can neutralize the cytotoxic ligands TNFS14/LIGHT, TNFSF15 and TNFSF6/FASL.
TNFSF15	Tumor necrosis factor ligand superfamily member 15	Receptor for TNFRSF25 and TNFRSF6B.
TNFSF18	Tumor necrosis factor ligand superfamily member 18	Cytokine that binds to TNFRSF18/AITR/GITR.
CD40LG	CD40 ligand	Cytokine that acts as a ligand to CD40/TNFRSF5.
FASLG	Tumor necrosis factor ligand superfamily member 6	Cytokine that binds to TNFRSF6/FAS, a receptor that transduces the apoptotic signal into cells.
TNP2	Nuclear transition protein 2	Plays a key role in the replacement of histones to protamine in the elongating spermatids of mammals.
TNXB	Tenascin-X	Appears to mediate interactions between cells and the extracellular matrix.
EIPR1	EARP and GARP complex-interacting protein 1	Acts as a component of endosomal retrieval machinery that is involved in protein transport from early endosomes to either recycling endosomes or the trans-Golgi network.
TYK2	Non-receptor tyrosine-protein kinase TYK2	Tyrosine kinase of the non-receptor type involved in numerous cytokines and interferons signaling, which regulates cell growth, development, cell migration, innate and adaptive immunity.
UBASH3A	Ubiquitin-associated and SH3 domain-containing protein A	Interferes with CBL-mediated down-regulation and degradation of receptor-type tyrosine kinases.
UMOD	Uromodulin	Functions in biogenesis and organization of the apical membrane of epithelial cells of the thick ascending limb of Henle’s loop (TALH), where it promotes formation of complex filamentous gel-like structure that may play a role in the water…
IKZF1	DNA-binding protein Ikaros	Transcription regulator of hematopoietic cell differentiation.
IKZF3	Zinc finger protein Aiolos	Transcription factor that plays an important role in the regulation of lymphocyte differentiation.
IKZF4	Zinc finger protein Eos	DNA-binding protein that binds to the 5’GGGAATRCC-3’ Ikaros-binding sequence.
BCL11A	BCL11 transcription factor A	Transcription factor.
PRM3	Protamine-3	Protamines substitute for histones in the chromatin of sperm during the haploid phase of spermatogenesis.
SLC4A10	Sodium-driven chloride bicarbonate exchanger	Sodium/bicarbonate cotransporter which plays an important role in regulating intracellular pH.
PRRC2A	Protein PRRC2A	May play a role in the regulation of pre-mRNA splicing.
PRDM16	Histone-lysine N-methyltransferase PRDM16	Transcription regulator that acts both as a histone methyltransferase or chromatin adapter, depending on the context.
BACH2	Transcription regulator protein BACH2	Transcriptional regulator that acts as a repressor or activator.
LPAR3	Lysophosphatidic acid receptor 3	Receptor for lysophosphatidic acid (LPA), a mediator of diverse cellular activities.
PLEKHA1	Pleckstrin homology domain-containing family A member 1	Binds specifically to phosphatidylinositol 3,4-diphosphate (PtdIns3,4P2), but not to other phosphoinositides.
CAMK4	Calcium/calmodulin-dependent protein kinase type IV	Calcium/calmodulin-dependent protein kinase that operates in the calcium-triggered CaMKK-CaMK4 signaling cascade and regulates, mainly by phosphorylation, the activity of several transcription activators, such as CREB1, MEF2D, JUN and RORA…
RTL1	Retrotransposon-like protein 1	Plays an essential role in capillaries endothelial cells for the maintenance of feto-maternal interface and for development of the placenta.
QRFPR	Pyroglutamylated RF-amide peptide receptor	Receptor for the orexigenic neuropeptide QRFP.
TAGAP	T-cell activation Rho GTPase-activating protein	May function as a GTPase-activating protein and may play important roles during T-cell activation.
SEPTIN6	Septin-6	Filament-forming cytoskeletal GTPase.
ORMDL3	ORM1-like protein 3	Plays an essential role in the homeostatic regulation of sphingolipid de novo biosynthesis by modulating the activity of the serine palmitoyltransferase (SPT) in response to ceramide levels.
CCR5	C-C chemokine receptor type 5	Receptor for a number of inflammatory CC-chemokines including CCL3/MIP-1-alpha, CCL4/MIP-1-beta and RANTES and subsequently transduces a signal by increasing the intracellular calcium ion level.
CCR7	C-C chemokine receptor type 7	Receptor for the MIP-3-beta chemokine.
TRIM31	E3 ubiquitin-protein ligase TRIM31	E3 ubiquitin-protein ligase that acts as a regulator of antiviral immune response and inflammation by mediating ubiquitination of substrates.
CARD9	Caspase recruitment domain-containing protein 9	Adapter protein that plays a key role in innate immune response against fungi by forming signaling complexes downstream of C-type lectin receptors.
FARP2	FERM, ARHGEF and pleckstrin domain-containing protein 2	Functions as a guanine nucleotide exchange factor that activates RAC1.
ZMIZ1	Zinc finger MIZ domain-containing protein 1	Acts as a transcriptional coactivator.
KLF3	Krueppel-like factor 3	Binds to the CACCC box of erythroid cell-expressed genes.

Protein-family classification

Druggable: 22 · Difficult: 20 · Unknown: 33 · Druggable fraction: 0.29

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
Transcription factor	15	1.6×	0.303
Antibody/Immunoglobulin	5	1.9×	0.402
Kinase	5	1.9×	0.402
GPCR	5	1.6×	0.459
Protease	3	1.5×	0.606
Scaffold/PPI	5	1.1×	0.658
Phosphatase	1	1.1×	0.764
Other/Unknown	33	0.8×	0.985
Enzyme (other)	3	0.5×	0.985

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
INS	Other/Unknown	no		Insulin, Insulin-like, Ins/IGF/rlx
CFB	Protease	yes	3.4.21.47	Sushi_SCR_CCP_dom, Trypsin_dom, Peptidase_S1A
RUNX3	Transcription factor	no		AML1_Runt, p53-like_TF_DNA-bd_sf, p53/RUNT-type_TF_DNA-bd_sf
SLC1A2	Other/Unknown	no		Na-dicarboxylate_symporter, Na-dicarboxylate_symporter_CS, Na:dicarbo_symporter_sf
BTF3P11	Other/Unknown	no
STAT4	Transcription factor	no		SH2, STAT, p53-like_TF_DNA-bd_sf
BTN3A1	Antibody/Immunoglobulin	yes		B30.2/SPRY, Ig_sub, SPRY_dom
BTNL2	Antibody/Immunoglobulin	yes		Ig_C1-set, Ig_sub, Ig-like_dom
SUOX	Enzyme (other)	yes	1.8.3.1	OxRdtase_Mopterin-bd_dom, Cyt_B5-like_heme/steroid-bd, MoCF_OxRdtse_dimer
TBP	Other/Unknown	no		TBP, TBP_dom_sf, TBP_CS
HNF1A	Transcription factor	no		HD, HNF1b_C, HNF1a_C
DYNLT2	Other/Unknown	no		Tctex-1-like, Tctex-1-like_sf
TH	Enzyme (other)	yes	1.14.16.2	ArAA_hydroxylase, Tyr_3_mOase, ArAA_hydroxylase_Fe/CU_BS
TLL1	Protease	yes		EGF-type_Asp/Asn_hydroxyl_site, EGF, CUB_dom
TNF	Other/Unknown	no		TNF_alpha, TNF_dom, TNF
TNFAIP3	Transcription factor	no		Znf_A20, OTU_dom, OTU_Deubiquitinase
TNFRSF6B	Other/Unknown	no		TNFR/NGFR_Cys_rich_reg, TNFRSF6B_N, TNFRSF_decoy_receptor
TNFSF15	Other/Unknown	no		TNF_dom, TNF, Tumour_necrosis_fac-like_dom
TNFSF18	Other/Unknown	no		TNF_dom, Tumour_necrosis_fac-like_dom, TNFSF18
CD40LG	Other/Unknown	no		CD40L, TNF_dom, Tumour_necrosis_fac-like_dom
FASLG	Other/Unknown	no		TNF_dom, TNF, Tumour_necrosis_fac-like_dom
TNP2	Other/Unknown	no		TP2
TNXB	Antibody/Immunoglobulin	yes		EGF, Fibrinogen_a/b/g_C_dom, FN3_dom
EIPR1	Scaffold/PPI	no		WD40_rpt, WD40/YVTN_repeat-like_dom_sf, WD40_repeat_CS
TYK2	Kinase	yes	2.7.10.2	FERM_domain, Prot_kinase_dom, SH2
UBASH3A	Phosphatase	yes		SH3_domain, UBA-like_sf, His_Pase_superF_clade-1
UMOD	Other/Unknown	no		EGF-type_Asp/Asn_hydroxyl_site, EGF, ZP_dom
IKZF1	Transcription factor	no		Znf_C2H2_type, Znf_C2H2_sf, Ikaros_C2H2-ZF
IKZF3	Transcription factor	no		Znf_C2H2_type, Znf_C2H2_sf, Ikaros_C2H2-ZF
IKZF4	Transcription factor	no		Znf_C2H2_type, Znf_C2H2_sf, Ikaros_C2H2-ZF
BCL11A	Transcription factor	no		Znf_C2H2_type, Znf_C2H2_sf, Dev/Hematopoietic_TF
DEXI	Other/Unknown	no		Dexamethasone-induced
PRM3	Other/Unknown	no		PRMP3
SLC4A10	Other/Unknown	no		HCO3_transpt_euk, Na/HCO3_transpt, HCO3_transpt-like_TM_dom
PRRC2A	Other/Unknown	no		BAT2_N, PRRC2
TSBP1	Other/Unknown	no		TSBP1
C6orf15	Other/Unknown	no		C6orf15
PRDM16	Transcription factor	no	2.1.1.367	SET_dom, Znf_C2H2_type, Znf_C2H2_sf
IGF2-AS	Other/Unknown	no
BACH2	Transcription factor	no		BTB/POZ_dom, bZIP_Maf, bZIP
LPAR3	GPCR	yes		GPCR_Rhodpsn, LPA_rcpt, LPA_rcpt_EDG7
PLEKHA1	Scaffold/PPI	no		PH_domain, PH-like_dom_sf, PI-Interact_SigTrans_Reg
C1QTNF6	Other/Unknown	no		C1q_dom, Collagen, Tumour_necrosis_fac-like_dom
MEG3	Other/Unknown	no
CAMK4	Kinase	yes	2.7.11.17	Prot_kinase_dom, Ser/Thr_kinase_AS, Kinase-like_dom_sf
RTL1	Protease	yes		Peptidase_aspartic_dom_sf, RTL1/1-8/LDOC_capsid-like, RTL1-rel
QRFPR	GPCR	yes		GPCR_Rhodpsn, NPY_rcpt, GPCR_Rhodpsn_7TM
TAGAP	Other/Unknown	no		RhoGAP_dom, Rho_GTPase_activation_prot, ARHGAP20-like_RhoGAP
SEPTIN6	Other/Unknown	no		Septin, P-loop_NTPase, G_SEPTIN_dom
ORMDL3	Other/Unknown	no		ORMDL

Expression context

Cohort genes with no expression data: 0.

59 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)	75
unknown	0

Top tissues across cohort

Tissue	Cohort genes
granulocyte	11
lymph node	8
male germ line stem cell (sensu Vertebrata) in testis	8
left testis	7
ventricular zone	5
right testis	5
blood	5
cortical plate	5
adrenal tissue	5
right lobe of liver	4
Brodmann (1909) area 23	4
primordial germ cell in gonad	4
sural nerve	4
testis	4
adenohypophysis	4
body of pancreas	3
type B pancreatic cell	3
gall bladder	3
buccal mucosa cell	3
middle temporal gyrus	3

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
INS	137	tissue_specific	marker	type B pancreatic cell, islet of Langerhans, body of pancreas
CFB	134	broad	marker	right lobe of liver, liver, gall bladder
RUNX3	220	broad	marker	granulocyte, buccal mucosa cell, lymph node
SLC1A2	227	broad	marker	endothelial cell, entorhinal cortex, Brodmann (1909) area 23
BTF3P11	76		yes	male germ line stem cell (sensu Vertebrata) in testis, endometrium epithelium, Brodmann (1909) area 10
STAT4	201	broad	marker	granulocyte, sperm, middle temporal gyrus
BTN3A1	272	ubiquitous	marker	granulocyte, spleen, pancreatic ductal cell
BTNL2	106		yes	sural nerve, ventricular zone, primordial germ cell in gonad
SUOX	267	ubiquitous	marker	right lobe of liver, right adrenal gland, right adrenal gland cortex
TBP	246	ubiquitous	marker	left testis, right testis, testis
HNF1A	81	tissue_specific	yes	right lobe of liver, mucosa of transverse colon, liver
DYNLT2	131	ubiquitous	yes	male germ line stem cell (sensu Vertebrata) in testis, left testis, testis
TH	147	tissue_specific	marker	substantia nigra pars reticulata, substantia nigra pars compacta, male germ line stem cell (sensu Vertebrata) in testis
TLL1	162	broad	marker	secondary oocyte, buccal mucosa cell, primordial germ cell in gonad
TNF	119	broad	marker	granulocyte, male germ line stem cell (sensu Vertebrata) in testis, bone marrow
TNFAIP3	274	ubiquitous	marker	vena cava, mucosa of paranasal sinus, vermiform appendix
TNFRSF6B	127	broad	yes	olfactory segment of nasal mucosa, spleen, subcutaneous adipose tissue
TNFSF15	149	broad	marker	cartilage tissue, jejunal mucosa, duodenum
TNFSF18	98	broad	yes	male germ line stem cell (sensu Vertebrata) in testis, gall bladder, stromal cell of endometrium
CD40LG	124	tissue_specific	marker	granulocyte, lymph node, blood
FASLG	118	tissue_specific	marker	granulocyte, blood, lymph node
TNP2	32	tissue_specific	yes	sperm, male germ cell, left testis
TNXB	134	ubiquitous	marker	apex of heart, right adrenal gland cortex, right adrenal gland
EIPR1	249	ubiquitous	marker	prefrontal cortex, adenohypophysis, nucleus accumbens
TYK2	288	ubiquitous	marker	granulocyte, right hemisphere of cerebellum, adenohypophysis
UBASH3A	133	broad	marker	granulocyte, blood, lymph node
UMOD	104	tissue_specific	marker	renal medulla, adult organism, adult mammalian kidney
IKZF1	225	broad	marker	leukocyte, monocyte, mononuclear cell
IKZF3	155	broad	marker	granulocyte, lymph node, epithelium of nasopharynx
IKZF4	242	ubiquitous	marker	buccal mucosa cell, left adrenal gland, adrenal cortex

Protein interactions among cohort

Intra-cohort edges: 35.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
INS	11,670
TNF	11,116
CDK2	9,236
TBP	7,225
FASLG	4,373
IKZF1	4,096
TYK2	3,932
TNFAIP3	3,716
CARD9	3,636
TH	3,526

Intra-cohort edges

A	B	Sources
BACH2	C1QTNF6	string_interaction
BACH2	TAGAP	string_interaction
BACH2	UBASH3A	string_interaction
BTNL2	TSBP1	string_interaction
C1QTNF6	TAGAP	string_interaction
C1QTNF6	UBASH3A	string_interaction
C6orf15	PSORS1C1	string_interaction
CAMK4	TNP2	string_interaction
CCR7	CD69	string_interaction
CCR7	ZMIZ1	biogrid_interaction
CD40LG	ICOSLG	string_interaction
CDK2	CDKN1C	biogrid_interaction, intact, string_interaction
DYNLT2	PHF10	string_interaction
FASLG	FNBP1	biogrid_interaction, intact
FASLG	TNF	string_interaction
FASLG	TNFRSF6B	biogrid_interaction, intact, string_interaction
HNF1A	INS	string_interaction
ICOSLG	TNFSF18	string_interaction
IKZF1	IKZF4	biogrid_interaction, intact
IKZF1	RUNX3	string_interaction
IKZF3	IKZF4	intact
IKZF3	ORMDL3	string_interaction
IKZF3	RUNX3	string_interaction
IKZF4	SUOX	string_interaction
KLF3	PRDM16	intact
PHF10	TNP2	biogrid_interaction
PRM3	TNP2	string_interaction
PSORS1C1	TSBP1	string_interaction
STAT4	TYK2	string_interaction
TNF	TNFRSF6B	string_interaction
TNF	TSBP1	string_interaction
TNF	UMOD	string_interaction
TNFRSF6B	TNFSF15	biogrid_interaction, intact, string_interaction
TNFSF15	TNFSF18	string_interaction
TNXB	TSBP1	string_interaction

Structural data

PDB: 49 · AlphaFold-only: 23 · No structure: 3

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
CDK2	P24941	521
INS	P01308	382
TBP	P20226	77
TNF	P01375	52
TYK2	P29597	52
BTN3A1	O00481	44
CFB	P00751	26
CCR5	P51681	26
TNFAIP3	P21580	17
BCL11A	Q9H165	17
ORMDL3	Q8N138	13
UMOD	P07911	10
IKZF1	Q13422	10
TNFRSF6B	O95407	8
CD40LG	P29965	8
CARD9	Q9H257	8
SLC1A2	P43004	7
TH	P07101	7
TNFSF15	O95150	7
TNFSF18	Q9UNG2	7
CCR7	P32248	7
CEL	P19835	7
HNF1A	P20823	6
CD69	Q07108	6
SEPTIN6	Q14141	4
RBFOX1	Q9NWB1	4
FASLG	P48023	3
TNXB	P22105	3
MYDGF	Q969H8	3
EMSY	Q7Z589	3

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
EIPR1	Q53HC9	89.26
STAT4	Q14765	86.87
BTNL2	Q9UIR0	85.97
LPAR3	Q9UBY5	81.63
SBK1	Q52WX2	77.87
C1QTNF6	Q9BXI9	77.42
DYNLT2	Q8IZS6	77.20
FARP2	O94887	76.34
SLC4A10	Q6U841	71.37
DEXI	O95424	69.88
CDKN1C	P49918	63.93
TNP2	Q05952	59.17
RTL1	A6NKG5	58.74
PRM3	Q9NNZ6	58.43
IGF2-AS	Q6U949	57.72
TAGAP	Q8N103	57.36
PSORS1C1	Q9UIG5	55.10
KLF3	P57682	54.04
IKZF3	Q9UKT9	48.06
TSBP1	Q5SRN2	45.58
C6orf15	Q6UXA7	43.65
PRRC2A	P48634	40.07
ZNF365	Q70YC4	30.21

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 811. Enrichment computed across 250 evidence-associated genes (162 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 162 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Interferon gamma signaling	13	10.1×	3e-07	TRIM31, HLA-A, HLA-C, HLA-DPA1, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DRA (+5 more)
Phosphorylation of CD3 and TCR zeta chains	7	23.5×	4e-06	HLA-DPA1, HLA-DQA1, HLA-DQA2, HLA-DRA, HLA-DRB1, PTPN22, PTPRC
Interleukin-23 signaling	5	39.2×	2e-05	STAT4, TYK2, IL23R, IL12B, JAK2
MAPK1 (ERK2) activation	5	35.2×	2e-05	TYK2, IL6R, IL6ST, JAK2, PTPN11
Translocation of ZAP-70 to Immunological synapse	6	23.5×	2e-05	HLA-DPA1, HLA-DQA1, HLA-DQA2, HLA-DRA, HLA-DRB1, PTPN22
MAPK3 (ERK1) activation	5	32.0×	3e-05	TYK2, IL6R, IL6ST, JAK2, PTPN11
Interleukin-6 signaling	5	29.4×	4e-05	TYK2, IL6R, IL6ST, JAK2, PTPN11
Co-inhibition by PD-1	6	19.2×	4e-05	HLA-DPA1, HLA-DQA1, HLA-DQA2, HLA-DRA, HLA-DRB1, PTPN11
Interleukin-4 and Interleukin-13 signaling	11	7.0×	4e-05	TNF, FASLG, TYK2, IL23R, GATA3, IL10, IL12B, IL6R (+3 more)
RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs)	4	28.2×	6e-04	CTLA4, IL2, IL2RA, FOXP3
Interleukin-35 Signalling	4	23.5×	0.001	STAT4, TYK2, IL6ST, JAK2
Downstream TCR signaling	8	6.3×	0.002	HLA-DPA1, HLA-DQA1, HLA-DQA2, HLA-DRA, HLA-DRB1, PRKCQ, PSMB1, PSMB2
Interleukin receptor SHC signaling	5	12.6×	0.003	IL2, IL2RA, IL2RB, IL5, JAK2
TNFs bind their physiological receptors	5	12.2×	0.003	TNFRSF6B, TNFSF15, TNFSF18, FASLG, LTA
Generation of second messenger molecules	5	10.7×	0.005	HLA-DPA1, HLA-DQA1, HLA-DQA2, HLA-DRA, HLA-DRB1
Interferon alpha/beta signaling	7	6.6×	0.005	TYK2, HLA-A, HLA-C, IRF1, IRF2, IRF4, PTPN11
FCGR3A-mediated IL10 synthesis	5	9.0×	0.010	ADCY3, ADCY7, FCGR3A, IL10, ITPR3
Interleukin-37 signaling	4	12.8×	0.011	IL18R1, SMAD3, PTPN11, PTPN2
TNFR2 non-canonical NF-kB pathway	6	6.7×	0.011	TNF, CD40LG, FASLG, LTA, PSMB1, PSMB2
Opioid Signalling	5	8.2×	0.014	CAMK4, ADCY3, ADCY7, ITPR3, POMC
Interleukin-27 signaling	3	19.2×	0.016	TYK2, IL6ST, JAK2
Activation of STAT3 by cadherin engagement	6	6.0×	0.016	TYK2, IL6R, IL6ST, JAK2, PSMB1, PSMB2
MHC class II antigen presentation	8	4.4×	0.016	CTSB, CTSH, KIF18A, HLA-DPA1, HLA-DQA1, HLA-DQA2, HLA-DRA, HLA-DRB1
Interleukin-2 signaling	3	17.6×	0.018	IL2, IL2RA, IL2RB
Interleukin-20 family signaling	4	10.4×	0.018	STAT4, TYK2, JAK2, PTPN11
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell	8	4.3×	0.018	CD40LG, CD226, NCR3, FCGR3A, HLA-A, HLA-C, ITGB7, KLRG1
Interleukin-12 signaling	4	10.1×	0.018	STAT4, TYK2, IL12B, JAK2
Interleukin-10 signaling	5	7.2×	0.018	TNF, TYK2, CCR5, IL10, IL12B
Immune System	25	2.0×	0.018	STAT4, BTN3A1, BTNL2, CD40LG, FASLG, CCR5, CARD9, CD226 (+17 more)
Differentiation of naive CD4+ T cells to T helper 1 cells (Th1 cells)	3	16.3×	0.018	RUNX3, STAT4, TNF

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 217 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
immune response	30	6.5×	6e-13	TNF, TNFSF15, TYK2, CCR5, CCR7, NCR3, CTLA4, CTSH (+22 more)
positive regulation of type II interferon production	14	14.5×	6e-10	BTN3A1, TNF, TYK2, CD226, IL23R, HLA-A, HLA-DPA1, IL12B (+6 more)
positive regulation of interleukin-17 production	9	25.0×	3e-08	TYK2, CARD9, IL23R, NOD2, IL12B, IL2, IL21, JAK2 (+1 more)
adaptive immune response	18	7.0×	6e-08	BTN3A1, TNFSF18, CAMK4, ICOSLG, CTLA4, CTSH, ERAP2, GPR183 (+10 more)
positive regulation of T cell proliferation	11	13.1×	2e-07	BTNL2, CD40LG, TYK2, IL23R, CCDC88B, HLA-DPA1, IL12B, IL21 (+3 more)
T cell receptor signaling pathway	13	9.1×	6e-07	BTN3A1, BTNL2, ICOSLG, CTLA4, FOSL2, GATA3, HLA-A, HLA-DQB1 (+5 more)
positive regulation of T-helper 17 type immune response	6	38.8×	1e-06	TYK2, CARD9, IL23R, IL12B, JAK2, PRKCQ
positive regulation of T cell mediated cytotoxicity	8	18.8×	2e-06	IL23R, TAP2, HLA-A, HLA-C, HLA-DRA, HLA-DRB1, IL12B, PTPRC
T cell mediated cytotoxicity	6	31.1×	4e-06	CTSH, TAP2, HLA-A, IL7R, MICA, PRF1
positive regulation of T cell activation	8	16.4×	5e-06	CCDC88B, HLA-DPA1, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DRA, HLA-DRB1, PRKCQ
regulation of T-helper cell differentiation	4	77.7×	5e-06	GATA3, HLA-DRA, HLA-DRB1, IRF4
peptide antigen assembly with MHC class II protein complex	6	29.1×	5e-06	HLA-DPA1, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DRA, HLA-DRB1
positive regulation of natural killer cell proliferation	5	32.4×	4e-05	TYK2, IL23R, FCGR3A, IL12B, JAK2
inflammatory response	21	3.6×	5e-05	TNF, TNFAIP3, CD40LG, UMOD, CAMK4, CCR5, CCR7, TRIM31 (+13 more)
negative regulation of inflammatory response	11	7.0×	7e-05	TNFAIP3, CD69, GATA3, IER3, IL10, IL2, IL2RA, SMAD3 (+3 more)
humoral immune response	8	10.3×	1e-04	TNF, GPR183, AIRE, GATA3, HLA-DQB1, HLA-DRB1, LTA, NOTCH2
positive regulation of cytokine production	8	10.0×	1e-04	INS, BTN3A1, TNF, CARD9, CCDC88B, IL10, IL21, PTGER4
platelet-derived growth factor receptor signaling pathway	6	15.5×	2e-04	PLEKHA1, JAK2, NR4A3, NRP1, PTPN11, BCAR1
antigen processing and presentation of exogenous peptide antigen via MHC class II	6	15.0×	3e-04	HLA-DPA1, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DRA, HLA-DRB1
interleukin-12-mediated signaling pathway	4	34.5×	3e-04	STAT4, TYK2, IL12B, JAK2
positive regulation of memory T cell differentiation	4	34.5×	3e-04	IL23R, HLA-DRA, HLA-DRB1, IL12B
positive regulation of immunoglobulin production	6	13.3×	4e-04	TNF, IL10, IL2, IL21, IL5, PTPRC
positive regulation of immune response	6	13.3×	4e-04	HLA-DPA1, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DRA, HLA-DRB1
positive regulation of extrinsic apoptotic signaling pathway	6	12.6×	6e-04	TNF, TNFSF15, CD40LG, FASLG, LTA, PTPRC
T follicular helper cell differentiation	4	25.9×	1e-03	ICOSLG, GPR183, IL21, ASCL2
positive regulation of tumor necrosis factor production	9	6.3×	1e-03	CARD9, LRRK2, IFIH1, FCGR3A, NOD2, IL12B, JAK2, PTPN11 (+1 more)
positive regulation of activated T cell proliferation	5	15.5×	0.001	ICOSLG, IL23R, IL12B, IL2, IL2RA
hemopoiesis	7	8.6×	0.001	RUNX3, KLF3, DLL1, IL10, IL7R, NOTCH2, NOTCH4
positive regulation of humoral immune response mediated by circulating immunoglobulin	3	46.6×	0.001	TNF, LTA, PTPRC
positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation	3	46.6×	0.001	HLA-DRA, HLA-DRB1, FOXP3

Therapeutics

Drugs indicated for this disease

6 approved, 53 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Dasiglucagon Hydrochloride	Approved (phase 4)
Insulin Detemir	Approved (phase 4)
Insulin Glargine	Approved (phase 4)
Insulin Icodec	Approved (phase 4)
Sotagliflozin	Approved (phase 4)
Teplizumab	Approved (phase 4)
Acipimox	Phase 3 (in late-stage trials)
Basiliximab	Phase 3 (in late-stage trials)
Candesartan	Phase 3 (in late-stage trials)
Candesartan Cilexetil	Phase 3 (in late-stage trials)
Captopril	Phase 3 (in late-stage trials)
Cholecalciferol	Phase 3 (in late-stage trials)
Cyclosporine	Phase 3 (in late-stage trials)
DIAPEP-277	Phase 3 (in late-stage trials)
Daclizumab	Phase 3 (in late-stage trials)
Dapagliflozin	Phase 3 (in late-stage trials)
Empagliflozin	Phase 3 (in late-stage trials)
Ergocalciferol	Phase 3 (in late-stage trials)
Etanercept	Phase 3 (in late-stage trials)
Exenatide	Phase 3 (in late-stage trials)
Folic Acid	Phase 3 (in late-stage trials)
GLUTAMATE DECARBOXYLASE 2	Phase 3 (in late-stage trials)
Glucagon	Phase 3 (in late-stage trials)
Inositol	Phase 3 (in late-stage trials)
Insulin Aspart	Phase 3 (in late-stage trials)
Insulin Degludec	Phase 3 (in late-stage trials)
Insulin Efsitora Alfa	Phase 3 (in late-stage trials)
Insulin Glulisine	Phase 3 (in late-stage trials)
Insulin Human	Phase 3 (in late-stage trials)
Insulin Lispro	Phase 3 (in late-stage trials)
Insulin Peglispro	Phase 3 (in late-stage trials)
Insulin Pork	Phase 3 (in late-stage trials)
Insulin Susp Isophane Beef	Phase 3 (in late-stage trials)
Insulin Susp Isophane Recombinant Human	Phase 3 (in late-stage trials)
Insulin, Isophane	Phase 3 (in late-stage trials)
Ipragliflozin	Phase 3 (in late-stage trials)
Ladarixin	Phase 3 (in late-stage trials)
Lansoprazole	Phase 3 (in late-stage trials)
Lipoic Acid, Alpha	Phase 3 (in late-stage trials)
Liraglutide	Phase 3 (in late-stage trials)
Metformin	Phase 3 (in late-stage trials)
Miglitol	Phase 3 (in late-stage trials)
Mycophenolate Mofetil	Phase 3 (in late-stage trials)
Mycophenolic Acid	Phase 3 (in late-stage trials)
Omeprazole	Phase 3 (in late-stage trials)
Otelixizumab	Phase 3 (in late-stage trials)
Pitavastatin	Phase 3 (in late-stage trials)
Pramlintide	Phase 3 (in late-stage trials)
Quinapril	Phase 3 (in late-stage trials)
Ramipril	Phase 3 (in late-stage trials)
Reparixin	Phase 3 (in late-stage trials)
Ruboxistaurin	Phase 3 (in late-stage trials)
Semaglutide	Phase 3 (in late-stage trials)
Sirolimus	Phase 3 (in late-stage trials)
Sodium Chloride	Phase 3 (in late-stage trials)
Starch, Corn	Phase 3 (in late-stage trials)
Tacrolimus Anhydrous	Phase 3 (in late-stage trials)
Verapamil	Phase 3 (in late-stage trials)
Vildagliptin	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): .ALPHA.1-PROTEINASE INHIBITOR HUMAN, Abatacept, Abrocitinib, Acetaminophen, Albiglutide, Aldesleukin, Alefacept, Alemtuzumab, Aluminum Hydroxide, Anakinra, Atorvastatin, Baricitinib, Belatacept, Bromocriptine, Calcitriol, Canakinumab, Chlorthalidone, Cinnamon, Curcumin, Dasiglucagon, Doconexent, Dulaglutide, Ebselen, Efalizumab, Eflornithine, Enalapril, Filgrastim, Frexalimab, Ganciclovir, Gevokizumab, Glyburide, Golimumab, HOKT3, Heparin, Honey, Hyaluronidase (Human Recombinant), Hydroxychloroquine, Ibuprofen, Infliximab, Interferon Alfa, Ixekizumab, Losartan, Methyldopa, Naloxone, OMEGA-3-ACID ETHYL ESTERS, Pantoprazole, Pegfilgrastim, Pentamidine, Propranolol, Ribavirin, Ritlecitinib, Rituximab, Secukinumab, Simvastatin, Sitagliptin, Somatostatin, Sorafenib, Sulfamethoxazole, Taurolithocholic Acid, Tocilizumab, Trimethoprim, Ubidecarenone, Ustekinumab.

Drug target analysis

Approved (phase 4): 11 · Phase ≥3: 14 · Phased (≥1): 14 · Undrugged: 61

Druggability breadth: 117 of 250 evidence-associated genes (47%) 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
CFB	IPTACOPAN
BTN3A1	ZOLEDRONIC ACID
TNF	PREDNISOLONE
TYK2	FEDRATINIB
IKZF1	POMALIDOMIDE
IKZF3	POMALIDOMIDE
CAMK4	RUXOLITINIB
CCR5	TERFENADINE
SBK1	AFATINIB
CDK2	PALBOCICLIB
STK39	FEDRATINIB

Top cohort targets by molecule count

Symbol	Molecules	Max phase
CDK2	85	4
TYK2	72	4
CCR5	15	4
CAMK4	14	4
SBK1	14	4
TNF	12	4
STK39	10	4
CD69	7	3
IKZF3	5	4
IKZF1	3	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
IPTACOPAN	4	CFB
ZOLEDRONIC ACID	4	BTN3A1
RISEDRONIC ACID	4	BTN3A1
PREDNISOLONE	4	TNF
POMALIDOMIDE	4	IKZF1, IKZF3, TNF
PENTOXIFYLLINE	4	TNF
MESALAMINE	4	TNF
LENALIDOMIDE	4	IKZF1, IKZF3, TNF
FEDRATINIB	4	SBK1, STK39, TYK2
RUXOLITINIB	4	CAMK4, SBK1, STK39, TYK2
TOFACITINIB	4	TYK2
UPADACITINIB	4	TYK2
BARICITINIB	4	TYK2
FILGOTINIB	4	TYK2
ABROCITINIB	4	TYK2
DEUCRAVACITINIB	4	TYK2
MOMELOTINIB	4	CDK2, TYK2
AXITINIB	4	TYK2
RUXOLITINIB PHOSPHATE	4	TYK2
INFIGRATINIB PHOSPHATE	4	TYK2
INFIGRATINIB	4	TYK2
PACRITINIB	4	CDK2, TYK2
TOFACITINIB CITRATE	4	TYK2
BOSUTINIB	4	STK39, TYK2
PEFICITINIB	4	TYK2
CRAVACITINIB	4	TYK2
PAZOPANIB	4	TYK2
NINTEDANIB	4	CAMK4, CDK2, SBK1, STK39, TYK2
SUNITINIB	4	CAMK4, SBK1, STK39, TYK2
DASATINIB	4	SBK1, TYK2

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 9.

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

Symbol	Assays	Type breakdown
CDK2	2,469	Binding:2394, Functional:59, ADMET:14, Toxicity:2
TYK2	1,083	Binding:1043, Functional:39, ADMET:1
CCR5	409	Binding:243, Functional:166
CAMK4	342	Binding:342
TNF	193	Binding:162, Functional:31
STK39	136	Binding:136
IKZF1	106	Binding:105, Functional:1
IKZF3	101	Binding:100, Functional:1
SBK1	97	Binding:97
SLC1A2	90	Binding:84, Functional:6
BTN3A1	75	Binding:75
LPAR3	74	Functional:56, Binding:18
CCR7	46	Binding:33, Functional:13
CFB	33	Binding:33
QRFPR	26	Binding:13, Functional:13
CD69	22	Binding:22
STAT4	20	Binding:20
INS	8	Binding:7, ADMET:1
TH	8	Binding:8
CD40LG	8	Binding:8
CEL	7	Binding:7
ICOSLG	6	Binding:6
TLL1	5	Binding:5
BACH2	3	Binding:3
FASLG	2	Binding:2
PRDM16	2	Binding:2
HNF1A	1	Binding:1
TNFAIP3	1	Binding:1
UBASH3A	1	Binding:1
PRRC2A	1	Binding:1
PLEKHA1	1	Binding:1
SEPTIN6	1	Binding:1
ORMDL3	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
CFB	3.4.21.47	alternative-complement-pathway C3/C5 convertase
SUOX	1.8.3.1	sulfite oxidase
TH	1.14.16.2	tyrosine 3-monooxygenase
TYK2	2.7.10.2	non-specific protein-tyrosine kinase
PRDM16	2.1.1.367, 2.1.1.370	[histone H3]-lysine9 N-methyltransferase, [histone H3]-lysine4 N-dimethyltransferase
CAMK4	2.7.11.17	Ca2+/calmodulin-dependent protein kinase
CDK2	2.7.11.22	cyclin-dependent kinase
STK39	2.7.11.1	non-specific serine/threonine protein kinase
CEL	3.1.1.13	sterol esterase

Cohort genes with high screening signal

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

Symbol	ChEMBL assays
TNF	193
TYK2	1,083
IKZF1	106
IKZF3	101
CAMK4	342
CCR5	409
CDK2	2,469
STK39	136

Pharmacogenomics

Cohort genes with a PharmGKB record: 75; 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)
IPTACOPAN	4	CFB
ZOLEDRONIC ACID	4	BTN3A1
RISEDRONIC ACID	4	BTN3A1
PREDNISOLONE	4	TNF
POMALIDOMIDE	4	IKZF1, IKZF3, TNF
PENTOXIFYLLINE	4	TNF
MESALAMINE	4	TNF
LENALIDOMIDE	4	IKZF1, IKZF3, TNF
FEDRATINIB	4	SBK1, STK39, TYK2
RUXOLITINIB	4	CAMK4, SBK1, STK39, TYK2
TOFACITINIB	4	TYK2
UPADACITINIB	4	TYK2
BARICITINIB	4	TYK2
FILGOTINIB	4	TYK2
ABROCITINIB	4	TYK2
DEUCRAVACITINIB	4	TYK2
MOMELOTINIB	4	CDK2, TYK2
AXITINIB	4	TYK2
RUXOLITINIB PHOSPHATE	4	TYK2
INFIGRATINIB PHOSPHATE	4	TYK2
INFIGRATINIB	4	TYK2
PACRITINIB	4	CDK2, TYK2
TOFACITINIB CITRATE	4	TYK2
BOSUTINIB	4	STK39, TYK2
PEFICITINIB	4	TYK2
CRAVACITINIB	4	TYK2
PAZOPANIB	4	TYK2
NINTEDANIB	4	CAMK4, CDK2, SBK1, STK39, TYK2
SUNITINIB	4	CAMK4, SBK1, STK39, TYK2
DASATINIB	4	SBK1, TYK2

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	11	CFB, BTN3A1, TNF, TYK2, IKZF1, IKZF3, CAMK4, CCR5, SBK1, CDK2 (+1 more)
B	Phased (≥1) drug, not yet approved	3	SLC1A2, CCR7, CD69
C	Druggable family + PDB, no drug	10	SUOX, TH, TLL1, TNXB, UBASH3A, QRFPR, CD226, ICOSLG, CEL, ADGRL2
D	Druggable family + AlphaFold only, no drug	3	BTNL2, LPAR3, RTL1
E	Difficult family or no structure, no drug	48	INS, RUNX3, BTF3P11, STAT4, TBP, HNF1A, DYNLT2, TNFAIP3, TNFRSF6B, TNFSF15 (+38 more)

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
RUNX3	0	IKZF1
STAT4	20	TYK2
CDKN1C	0	CDK2
INS	8	—
BTF3P11	0	—
BTNL2	0	—
SUOX	0	—
TBP	0	—
HNF1A	1	—
DYNLT2	0	—
TH	8	—
TLL1	5	—
TNFAIP3	1	—
TNFRSF6B	0	—
TNFSF15	0	—
TNFSF18	0	—
CD40LG	8	—
FASLG	2	—
TNP2	0	—
TNXB	0	—
EIPR1	0	—
UBASH3A	1	—
UMOD	0	—
IKZF4	0	—
BCL11A	0	—
DEXI	0	—
PRM3	0	—
SLC4A10	0	—
PRRC2A	1	—
TSBP1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 2,024.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	400
PHASE2	190
PHASE1	143
PHASE3	115
PHASE4	106
PHASE1/PHASE2	78
EARLY_PHASE1	37
PHASE2/PHASE3	31

Top trials by phase / activity

NCT	Phase	Status	Title
NCT03463564	PHASE4	RECRUITING	Insulin Pump vs Multiple Daily Injections of Insulin and Glyco-metabolic Control in Type 1 Diabetic Patients
NCT03878459	PHASE4	RECRUITING	Dapagliflozin Plus Pioglitazone in T1DM
NCT04698330	PHASE4	NOT_YET_RECRUITING	Effects Of Berberine Plus Inulin On Diabetes Care in Patients With LADA
NCT05641753	PHASE4	RECRUITING	Cholesterol Lowering and Residual Risk in Diabetes, Type 1
NCT06021145	PHASE4	RECRUITING	Effectiveness of Empagliflozin Added to Automated Insulin Delivery (AID) Systems in Adults With Type 1 Diabetes With Sub-optimal Glycemic Outcomes
NCT06532682	PHASE4	ACTIVE_NOT_RECRUITING	Efficacy of Dapagliflozin in Early Diabetic Nephropathy in Type 1 Diabetes
NCT06600776	PHASE4	NOT_YET_RECRUITING	Mealtime or Post-meal Dosing of URLi in Medtronic 780G Hybrid Closed Loop System
NCT06922656	PHASE4	NOT_YET_RECRUITING	Can the Addition of Pioglitazone to SGLT2 Inhibitor in Type 1 Diabetic Patients Amplify the Decrease in HbA1c and Prevent the Increase in Plasma Ketone Concentration?
NCT07293715	PHASE4	RECRUITING	Permissive Versus Strict Intrapartum Glucose Management in Type 1 Diabetes (PRISM-T1D)
NCT07427251	PHASE4	NOT_YET_RECRUITING	The Postprandial Hypo-Avoid Study
NCT00145353	PHASE4	UNKNOWN	Insulin NovoRapid Versus Actrapid in Treatment of Type 1 Diabetic Patients During Daily Adjustment of Insulin Dose
NCT00145379	PHASE4	COMPLETED	The Effect of Metformin in Overweight Patients With Dysregulated Type 1 Diabetes Mellitus
NCT00206401	PHASE4	COMPLETED	Lantus in the Treatment of Type 1 Diabetes Children
NCT00276393	PHASE4	COMPLETED	Treatment Trial Evaluating Long Acting Insulin in Type 1 Diabetes
NCT00291772	PHASE4	COMPLETED	Continuous Subcutaneous Infusion of Pramlintide and Insulin
NCT00315952	PHASE4	COMPLETED	Study to Estimate the Effects of Inhaled Versus Intravenous (IV) Infusion of Human Insulin in Subjects With Type 1 Diabetes
NCT00340613	PHASE4	COMPLETED	Lunch Time Insulin Injection by School Nurse for Poorly Controlled Diabetes
NCT00346996	PHASE4	COMPLETED	Insulin Analogues and Severe Hypoglycaemia
NCT00360984	PHASE4	COMPLETED	Prevention of Severe Hypoglycemia in Type 1 Diabetes
NCT00372086	PHASE4	COMPLETED	Rosiglitazone and Insulin in T1DM Adolescents
NCT00442767	PHASE4	COMPLETED	Post-meal Insulin Dosing With Adjuvant Pre-meal Pramlintide in Children With Type 1 Diabetes Mellitus
NCT00453934	PHASE4	TERMINATED	Patient Preference of h-Patch vs. Pen or Needle/Syringe as Insulin Administration Device
NCT00461331	PHASE4	COMPLETED	Comparison of Insulins Aspart and Lispro in Insulin Pumps
NCT00472875	PHASE4	UNKNOWN	Do Sulphonylureas Preserve Cortical Function During Hypoglycaemia?
NCT00497536	PHASE4	COMPLETED	Pharmacokinetics of IAsp Following CSII in Patients With T1DM
NCT00502138	PHASE4	COMPLETED	A Pilot Study of Continuous Subcutaneous Pramlintide Infusion Therapy in Patients With Type 1 Diabetes
NCT00505882	PHASE4	WITHDRAWN	Efficacy of Pramlintide on Prevention of Weight Gain Early Onset of Type 1 Diabetes
NCT00530023	PHASE4	COMPLETED	Feasibility Study for Training Pump Naïve Subjects To Use The Paradigm® System And Evaluate Effectiveness
NCT00542399	PHASE4	COMPLETED	Comparing the Metabolic Control of Once to Twice-daily Insulin Detemir Injections
NCT00564395	PHASE4	COMPLETED	Detemir: Role in Type 1 Diabetes
NCT00814476	PHASE4	COMPLETED	The Effects of Regular Home Use Vs Diabetic Team- Supported Use of the Medtronic CareLink Therapy Management System.
NCT00898534	PHASE4	COMPLETED	Effect of Immediate Hemoglobin A1c on Glycemic Control in Children With Type I Diabetes Mellitus
NCT00913497	PHASE4	COMPLETED	The Effect of Insulin Glulisine Compared With Insulin Aspart on Breakfast Post Prandial Glucose Levels in Prepubertal Children
NCT00978796	PHASE4	COMPLETED	Assessing Glucose Effects of Sitagliptin (Januvia) in Adult Patients With Type 1 Diabetes
NCT01019486	PHASE4	COMPLETED	Regadenoson Blood Flow in Type 1 Diabetes (RABIT1D)
NCT01235819	PHASE4	COMPLETED	Comparison Between GLP 1 Analogues and DPP 4 Inhibitors in Type 1 Diabetes Mellitus
NCT01269034	PHASE4	COMPLETED	New Onset Type 1 Diabetes: Role of Exenatide
NCT01269047	PHASE4	COMPLETED	Use of Exenatide and Pramlintide to Decrease Post-prandial Hyperglycemia
NCT01280682	PHASE4	COMPLETED	Immune Intervention With Rituximab to Preserve Beta Cell Function in Early Onset Type 1 Diabetes
NCT01331343	PHASE4	COMPLETED	Effectiveness Study of the Guardian RT in Type 1 Diabetics

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
INSULIN GLARGINE	4	38
INSULIN LISPRO	4	26
GLUCAGON	4	17
PRAMLINTIDE	4	14
INSULIN HUMAN	4	12
SOTAGLIFLOZIN	4	12
INSULIN ASPART	4	11
INSULIN DEGLUDEC	4	9
INSULIN GLULISINE	4	9
SAXAGLIPTIN ANHYDROUS	4	9
TEPLIZUMAB	4	8
SEMAGLUTIDE	4	7
BASILIXIMAB	4	5
TIRZEPATIDE	4	5
ALPRAZOLAM	4	3
ANAKINRA	4	3
BELATACEPT	4	3
EFALIZUMAB	4	3
EXENATIDE	4	3
FIBRINOGEN I 125	4	3
FINERENONE	4	3
SITAGLIPTIN	4	3
USTEKINUMAB	4	3
ALEMTUZUMAB	4	2
AMINOHIPPURIC ACID	4	2
DAPAGLIFLOZIN PROPANEDIOL	4	2
EFLORNITHINE	4	2
EZETIMIBE	4	2
HYALURONIDASE	4	2
LANSOPRAZOLE	4	2