MYDGF

Summary

MYDGF (myeloid derived growth factor, HGNC:16948) is a protein-coding gene on chromosome 19p13.3, encoding Myeloid-derived growth factor (Q969H8). Bone marrow-derived monocyte and paracrine-acting protein that promotes cardiac myocyte survival and adaptive angiogenesis for cardiac protection and/or repair after myocardial infarction (MI).

The protein encoded by this gene was previously thought to support proliferation of lymphoid cells and was considered an interleukin. However, this activity has not been reproducible and the function of this protein is currently unknown.

Source: NCBI Gene 56005 — RefSeq curated summary.

At a glance

• GWAS associations: 41
• Clinical variants (ClinVar): 109 total — 1 pathogenic
• MANE Select transcript: NM_019107

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16948
Approved symbol	MYDGF
Name	myeloid derived growth factor
Location	19p13.3
Locus type	gene with protein product
Status	Approved
Aliases	R33729_1, IL25, SF20, IL-25, IL-27
Ensembl gene	ENSG00000074842
Ensembl biotype	protein_coding
OMIM	606746
Entrez	56005

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 retained_intron

ENST00000262947, ENST00000596031, ENST00000599630, ENST00000599761, ENST00000908999

RefSeq mRNA: 1 — MANE Select: NM_019107 NM_019107

CCDS: CCDS12133

Canonical transcript exons

ENST00000262947 — 6 exons

Exon	Start	End
ENSE00000665324	4660669	4660750
ENSE00000665325	4659931	4660003
ENSE00001052525	4670161	4670342
ENSE00001052527	4657545	4658084
ENSE00001052529	4668595	4668645
ENSE00003461382	4664876	4664937

Expression profiles

Bgee: expression breadth ubiquitous, 292 present calls, max score 99.21.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 114.9574 / max 1020.2766, expressed in 1825 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
178483	114.9574	1825

Top tissues by expression

296 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
stromal cell of endometrium	CL:0002255	99.21	gold quality
body of pancreas	UBERON:0001150	98.56	gold quality
adenohypophysis	UBERON:0002196	98.09	gold quality
right lobe of liver	UBERON:0001114	97.84	gold quality
pituitary gland	UBERON:0000007	97.77	gold quality
islet of Langerhans	UBERON:0000006	97.71	gold quality
decidua	UBERON:0002450	97.69	gold quality
mucosa of transverse colon	UBERON:0004991	97.46	gold quality
pancreas	UBERON:0001264	97.30	gold quality
ascending aorta	UBERON:0001496	96.90	gold quality
pericardium	UBERON:0002407	96.89	gold quality
thoracic aorta	UBERON:0001515	96.85	gold quality
body of stomach	UBERON:0001161	96.82	gold quality
spleen	UBERON:0002106	96.82	gold quality
minor salivary gland	UBERON:0001830	96.75	gold quality
saliva-secreting gland	UBERON:0001044	96.69	gold quality
upper lobe of left lung	UBERON:0008952	96.64	gold quality
endocervix	UBERON:0000458	96.63	gold quality
left coronary artery	UBERON:0001626	96.63	gold quality
left adrenal gland	UBERON:0001234	96.60	gold quality
pylorus	UBERON:0001166	96.58	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	96.54	gold quality
left adrenal gland cortex	UBERON:0035825	96.52	gold quality
coronary artery	UBERON:0001621	96.39	gold quality
trachea	UBERON:0003126	96.39	gold quality
upper lobe of lung	UBERON:0008948	96.34	gold quality
monocyte	CL:0000576	96.20	gold quality
right coronary artery	UBERON:0001625	96.20	gold quality
mononuclear cell	CL:0000842	96.15	gold quality
right lobe of thyroid gland	UBERON:0001119	96.15	gold quality

Single-cell (SCXA)

Detected in 18 experiment(s), a significant marker in 16.

Experiment	Marker?	Max mean expression
E-MTAB-10662	yes	1846.92
E-MTAB-9467	yes	1527.24
E-CURD-88	yes	104.81
E-HCAD-4	yes	61.79
E-HCAD-1	yes	61.30
E-CURD-122	yes	53.14
E-CURD-46	yes	45.33
E-HCAD-5	yes	32.13
E-MTAB-8410	yes	23.63
E-HCAD-9	yes	23.12
E-MTAB-9067	yes	14.24
E-MTAB-10553	yes	10.35
E-CURD-112	yes	9.95
E-GEOD-93593	yes	9.20
E-MTAB-10042	yes	8.77

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

19 targeting MYDGF, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4517	99.76	69.19	1867
HSA-MIR-4766-5P	99.75	69.23	2662
HSA-MIR-4677-5P	99.70	70.09	1940
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-2116-5P	99.32	69.34	1273
HSA-MIR-4667-3P	99.26	65.45	1608
HSA-MIR-452-3P	99.01	66.25	1241
HSA-MIR-4650-3P	99.01	68.39	1062
HSA-MIR-3619-5P	99.00	68.87	2308
HSA-MIR-214-3P	98.71	68.12	2128
HSA-MIR-761	98.71	68.07	2051
HSA-MIR-6827-5P	98.46	64.88	1256
HSA-MIR-1913	97.07	66.20	1417
HSA-MIR-3943	95.87	64.57	523
HSA-MIR-6851-3P	95.73	65.11	688
HSA-MIR-10396A-3P	93.99	62.06	94
HSA-MIR-10396B-3P	93.99	62.06	94
HSA-MIR-4442	92.35	67.08	98

Literature-anchored findings (GeneRIF, showing 12)

• we identified a novel protein, c19orf10 (chromosome 19 open reading frame 10), produced by fibroblast-like synoviocytes (PMID:17362502)
• Taken together, these data suggest that c19orf10 might be one of the growth factors and potential molecular targets activated in HCC. (PMID:21128247)
• Bone marrow-derived monocytes and macrophages produce this protein endogenously to protect and repair the heart after myocardial infarction. (PMID:25581518)
• MYDGF structure consists of a 10-stranded beta-sandwich with a folding topology showing no similarities to other cytokines or growth factors.X-ray structure of MYDGF identifies its functionally relevant receptor binding epitope. (PMID:31772377)
• MYDGF complexed to the KDEL receptor binds cargo via its conserved residues for transport to the endoplasmic reticulum. (PMID:31819058)
• maintains glucose homeostasis by inducing glucagon-like peptide-1 production and secretion (PMID:31913472)
• Hypoxia-induced myeloid derived growth factor promotes hepatocellular carcinoma progression through remodeling tumor microenvironment. (PMID:33391471)
• Identification of the correlations between interleukin-27 (IL-27) and immune-inflammatory imbalance in preterm birth. (PMID:34224308)
• Altered peripheral B lymphocyte homeostasis and functions mediated by IL-27 via activating the mammalian target of rapamycin signaling pathway in patients with rheumatoid arthritis. (PMID:34558072)
• rhMYDGF Alleviates I/R-induced Kidney Injury by Inhibiting Inflammation and Apoptosis via the Akt Pathway. (PMID:36698245)
• Myeloid-derived growth factor and its effects on cardiovascular and metabolic diseases. (PMID:38185568)
• Identification of myeloid-derived growth factor as a mechanically-induced, growth-promoting angiocrine signal for human hepatocytes. (PMID:38316785)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	mydgf	ENSDARG00000071679
mus_musculus	Mydgf	ENSMUSG00000019579
rattus_norvegicus	Mydgf	ENSRNOG00000046883

Protein

Protein identifiers

Myeloid-derived growth factor — Q969H8 (reviewed: Q969H8)

All UniProt accessions (3): Q969H8, M0QXF7, M0QYN0

UniProt curated annotations — full annotation on UniProt →

Function. Bone marrow-derived monocyte and paracrine-acting protein that promotes cardiac myocyte survival and adaptive angiogenesis for cardiac protection and/or repair after myocardial infarction (MI). Stimulates endothelial cell proliferation through a MAPK1/3-, STAT3- and CCND1-mediated signaling pathway. Inhibits cardiac myocyte apoptosis in a PI3K/AKT-dependent signaling pathway. Involved in endothelial cell proliferation and angiogenesis.

Subcellular location. Secreted. Endoplasmic reticulum-Golgi intermediate compartment. Endoplasmic reticulum. Golgi apparatus.

Tissue specificity. Expressed in eosinophils (at protein level). Expressed in bone marrow cells. Expressed in synovial tissue. Found in synovial fluid of patients with arthropaties.

Induction. Up-regulated in response to myocardial infarction (MI).

Similarity. Belongs to the MYDGF family.

RefSeq proteins (1): NP_061980* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR018887	MYDGF	Family

Pfam: PF10572

UniProt features (18 total): strand 11, helix 2, signal peptide 1, chain 1, turn 1, sequence variant 1, mutagenesis site 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
6SVL	X-RAY DIFFRACTION	1.58
6SVK	X-RAY DIFFRACTION	1.6
6O6W	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q969H8-F1	88.77	0.76

Antibody-complex structures (SAbDab): 1 — 6SVL

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Mutagenesis-validated functional residues (1):

Position	Phenotype
172–173	increased secretion.

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-381038	XBP1(S) activates chaperone genes
R-HSA-2262752	Cellular responses to stress
R-HSA-381070	IRE1alpha activates chaperones
R-HSA-381119	Unfolded Protein Response (UPR)
R-HSA-8953897	Cellular responses to stimuli

MSigDB gene sets: 408 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, GSE45365_NK_CELL_VS_CD8_TCELL_DN, GOBP_MYELOID_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_CELL_ACTIVATION, CREL_01, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, HONMA_DOCETAXEL_RESISTANCE, REACTOME_UNFOLDED_PROTEIN_RESPONSE_UPR, FREAC2_01, GOBP_REGULATION_OF_ALPHA_BETA_T_CELL_ACTIVATION, GOBP_REGULATION_OF_PHOSPHORYLATION, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_INFLAMMATORY_RESPONSE, GOBP_REGULATION_OF_DEFENSE_RESPONSE_TO_VIRUS, GOBP_RESPONSE_TO_PEPTIDE

GO Biological Process (9): angiogenesis (GO:0001525), positive regulation of protein phosphorylation (GO:0001934), positive regulation of endothelial cell proliferation (GO:0001938), apoptotic process (GO:0006915), negative regulation of apoptotic process (GO:0043066), positive regulation of MAPK cascade (GO:0043410), positive regulation of angiogenesis (GO:0045766), positive regulation of transcription by RNA polymerase II (GO:0045944), positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0051897)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (6): obsolete extracellular space (GO:0005615), endoplasmic reticulum (GO:0005783), endoplasmic reticulum lumen (GO:0005788), endoplasmic reticulum-Golgi intermediate compartment (GO:0005793), Golgi apparatus (GO:0005794), extracellular region (GO:0005576)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
IRE1alpha activates chaperones	1
Cellular responses to stimuli	1
Unfolded Protein Response (UPR)	1
Cellular responses to stress	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	3
intracellular membrane-bounded organelle	3
positive regulation of intracellular signal transduction	2
endomembrane system	2
blood vessel morphogenesis	1
anatomical structure formation involved in morphogenesis	1
regulation of protein phosphorylation	1
protein phosphorylation	1
positive regulation of protein modification process	1
positive regulation of phosphorylation	1
endothelial cell proliferation	1
regulation of endothelial cell proliferation	1
positive regulation of epithelial cell proliferation	1
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
apoptotic process	1
regulation of apoptotic process	1
negative regulation of programmed cell death	1
MAPK cascade	1
regulation of MAPK cascade	1
angiogenesis	1
regulation of angiogenesis	1
positive regulation of vasculature development	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	1
phosphatidylinositol 3-kinase/protein kinase B signal transduction	1
regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	1
binding	1
endoplasmic reticulum	1
intracellular organelle lumen	1
cellular anatomical structure	1

Protein interactions and networks

STRING

648 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MYDGF	IL25	Q9H293	840
MYDGF	TXNDC11	Q6PKC3	466
MYDGF	LY6E	Q16553	445
MYDGF	M0QYU9	M0QYU9	378
MYDGF	MRPL4	Q9BYD3	374
MYDGF	FDX2	Q6P4F2	367
MYDGF	SMIM7	Q9BQ49	363
MYDGF	TGFB1I1	O43294	355
MYDGF	ANKRD13C	Q8N6S4	348
MYDGF	LIMD1	Q9UGP4	333
MYDGF	TMED1	Q13445	323
MYDGF	UFL1	O94874	319
MYDGF	SUGP1	Q8IWZ8	311
MYDGF	ZGLP1	P0C6A0	299
MYDGF	RAVER1	Q8IY67	299

IntAct

67 interactions, top by confidence:

A	B	Type	Score
SGTA	MYDGF	psi-mi:“MI:0915”(physical association)	0.720
MYDGF	SGTA	psi-mi:“MI:0915”(physical association)	0.720
HPCAL1	MYDGF	psi-mi:“MI:0915”(physical association)	0.600
MYDGF	HPCAL1	psi-mi:“MI:0915”(physical association)	0.600
MYDGF	DDIT4L	psi-mi:“MI:0915”(physical association)	0.560
MYDGF	LDB2	psi-mi:“MI:0915”(physical association)	0.560
MYDGF	EIF3F	psi-mi:“MI:0915”(physical association)	0.560
LDB2	MYDGF	psi-mi:“MI:0915”(physical association)	0.560
MYDGF	UBQLN1	psi-mi:“MI:0915”(physical association)	0.560
MYDGF	ACOT13	psi-mi:“MI:0915”(physical association)	0.560
HPCA	MYDGF	psi-mi:“MI:0915”(physical association)	0.560
NCALD	MYDGF	psi-mi:“MI:0915”(physical association)	0.560
LCN2	MYDGF	psi-mi:“MI:0915”(physical association)	0.560
MYDGF	SGTB	psi-mi:“MI:0915”(physical association)	0.560
EIF3F	MYDGF	psi-mi:“MI:0915”(physical association)	0.560
MYDGF	UBQLN2	psi-mi:“MI:0915”(physical association)	0.560
KSR2	POLR3A	psi-mi:“MI:0914”(association)	0.530
MYDGF	PDIA5	psi-mi:“MI:0915”(physical association)	0.500
SNX8	MYDGF	psi-mi:“MI:0915”(physical association)	0.400
TESMIN	MYDGF	psi-mi:“MI:0915”(physical association)	0.400
TMOD2	MYDGF	psi-mi:“MI:0915”(physical association)	0.400
LRRK2		psi-mi:“MI:0914”(association)	0.350

BioGRID (80): C19orf10 (Two-hybrid), C19orf10 (Affinity Capture-RNA), C19orf10 (Affinity Capture-RNA), C19orf10 (Protein-peptide), C19orf10 (Co-fractionation), C19orf10 (Affinity Capture-MS), C19orf10 (Affinity Capture-MS), BAG6 (Two-hybrid), NCALD (Two-hybrid), SGTA (Two-hybrid), ACOT13 (Two-hybrid), HPCAL1 (Two-hybrid), HPCA (Two-hybrid), UBQLN1 (Two-hybrid), LCN2 (Two-hybrid)

ESM2 similar proteins: A0A4Y1YTM1, A2Y7D9, A9THA7, B4FSG1, B6K9M7, B6KAM0, F6N7K6, O49079, O65101, P0A431, P0A432, P10549, P11472, P12356, P12359, P12853, P13352, P14226, P14547, P20143, P22179, P23321, P23322, P23993, P26320, P27665, P36177, P36213, P38371, P46483, P85194, Q01656, Q01657, Q03200, Q0DG05, Q2V2S7, Q39615, Q40459, Q5QT17, Q6GZW3

Diamond homologs: P62248, Q54XC4, Q969H8, Q9CPT4

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 35 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
ubiquitin-dependent protein catabolic process	5	10.6×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

109 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	89
Likely benign	7
Benign	2

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1073956	NC_000016.9:g.(?28488827)(28950294_?)del	Pathogenic

SpliceAI

1471 predictions. Top by Δscore:

Variant	Effect	Δscore
16:28501970:CTCTA:C	donor_loss	1.0000
16:28501971:TCTAC:T	donor_loss	1.0000
16:28501972:CTAC:C	donor_loss	1.0000
16:28501973:TACC:T	donor_loss	1.0000
16:28501974:ACCT:A	donor_loss	1.0000
16:28501975:CCT:C	donor_loss	1.0000
16:28502130:GGGTC:G	acceptor_gain	1.0000
16:28502131:GGTC:G	acceptor_gain	1.0000
16:28502132:GTC:G	acceptor_gain	1.0000
16:28502132:GTCC:G	acceptor_loss	1.0000
16:28502133:TC:T	acceptor_gain	1.0000
16:28502134:CC:C	acceptor_gain	1.0000
16:28502134:CCT:C	acceptor_loss	1.0000
16:28502135:C:CC	acceptor_gain	1.0000
16:28502135:C:T	acceptor_gain	1.0000
16:28503693:A:AC	donor_gain	1.0000
16:28503694:C:CC	donor_gain	1.0000
16:28503876:A:AC	donor_gain	1.0000
16:28503877:C:CC	donor_gain	1.0000
16:28503877:CAAAG:C	donor_gain	1.0000
16:28504019:C:CT	acceptor_gain	1.0000
16:28506780:CG:C	donor_gain	1.0000
19:4659925:CCGTA:C	donor_loss	1.0000
19:4659926:CGTA:C	donor_loss	1.0000
19:4659927:GTA:G	donor_loss	1.0000
19:4659928:TACC:T	donor_loss	1.0000
19:4659929:A:T	donor_loss	1.0000
19:4659999:TTAGA:T	acceptor_gain	1.0000
19:4660000:TAGA:T	acceptor_gain	1.0000
19:4660002:GA:G	acceptor_gain	1.0000

AlphaMissense

1121 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:4664932:C:A	W77C	1.000
19:4664932:C:G	W77C	1.000
19:4664934:A:G	W77R	1.000
19:4664934:A:T	W77R	1.000
19:4660715:A:G	F108S	0.999
19:4664876:C:G	R96T	0.999
19:4668626:A:G	F65S	0.999
19:4660724:A:G	F105S	0.998
19:4664876:C:A	R96M	0.998
19:4664889:A:G	C92R	0.998
19:4664933:C:G	W77S	0.998
19:4668626:A:C	F65C	0.998
19:4660750:C:A	R96S	0.997
19:4660750:C:G	R96S	0.997
19:4664887:G:C	C92W	0.997
19:4668621:A:C	Y67D	0.997
19:4668632:C:T	C63Y	0.997
19:4668633:A:G	C63R	0.997
19:4658062:G:C	F155L	0.996
19:4658062:G:T	F155L	0.996
19:4658063:A:C	F155C	0.996
19:4658064:A:G	F155L	0.996
19:4660714:G:C	F108L	0.996
19:4660714:G:T	F108L	0.996
19:4660716:A:G	F108L	0.996
19:4660724:A:C	F105C	0.996
19:4660736:G:A	S101F	0.996
19:4664888:C:T	C92Y	0.996
19:4668595:C:A	E75D	0.996
19:4668595:C:G	E75D	0.996

dbSNP variants (sampled 300 via entrez): RS1000135535 (19:4663005 C>A,T), RS1000241540 (19:4659138 C>T), RS1000408825 (19:4659297 C>T), RS1000979147 (19:4660255 A>AC), RS1001523724 (19:4670304 C>T), RS1001560399 (19:4670576 C>A,T), RS1001709001 (19:4665811 A>C,T), RS1001738897 (19:4667563 T>A,C), RS1002180104 (19:4663826 C>T), RS1002189388 (19:4667972 G>A), RS1002224013 (19:4670797 A>G), RS1002244509 (19:4661462 C>G), RS1002260373 (19:4667189 C>A,T), RS1002295904 (19:4671785 C>A,T), RS1002477456 (19:4668939 G>T)

Disease associations

OMIM: gene MIM:606746 | disease phenotypes: MIM:256730

GenCC curated gene-disease

Mondo (1): neuronal ceroid lipofuscinosis (MONDO:0016295)

Orphanet (2): Neuronal ceroid lipofuscinosis (Orphanet:216), OBSOLETE: Infantile neuronal ceroid lipofuscinosis (Orphanet:79263)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

41 associations (top):

Study	Trait	p-value
GCST000392_38	Type 1 diabetes	3.000000e-13
GCST000531_2	Inflammatory bowel disease (early onset)	2.000000e-09
GCST000879_2	Crohn’s disease	2.000000e-11
GCST001191_12	Type 1 diabetes	1.000000e-08
GCST001725_52	Inflammatory bowel disease	1.000000e-21
GCST004131_83	Inflammatory bowel disease	2.000000e-12
GCST004132_69	Crohn’s disease	3.000000e-10
GCST004147_4	Chronic obstructive pulmonary disease	7.000000e-10
GCST004904_98	Body mass index	4.000000e-10
GCST005316_201	Intelligence (MTAG)	1.000000e-14
GCST005316_466	Intelligence (MTAG)	3.000000e-11
GCST005529_3	Ankylosing spondylitis	3.000000e-09
GCST005529_60	Ankylosing spondylitis	1.000000e-07
GCST005536_8	Type 1 diabetes	5.000000e-11
GCST005537_104	Chronic inflammatory diseases (ankylosing spondylitis, Crohn’s disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis) (pleiotropy)	3.000000e-29
GCST006269_785	General cognitive ability	3.000000e-09
GCST007044_23	Extremely high intelligence	2.000000e-08
GCST007045_40	PR interval	7.000000e-10
GCST007216_5	Crohn’s disease	6.000000e-07
GCST007293_116	Body fat distribution (arm fat ratio)	2.000000e-08
GCST007293_16	Body fat distribution (arm fat ratio)	4.000000e-09
GCST007293_43	Body fat distribution (arm fat ratio)	2.000000e-12
GCST007294_71	Body fat distribution (trunk fat ratio)	2.000000e-12
GCST007294_97	Body fat distribution (trunk fat ratio)	1.000000e-11
GCST007295_20	Body fat distribution (leg fat ratio)	3.000000e-06
GCST007295_44	Body fat distribution (leg fat ratio)	1.000000e-21
GCST007295_79	Body fat distribution (leg fat ratio)	2.000000e-24
GCST007429_154	Lung function (FVC)	2.000000e-06
GCST007432_159	FEV1	3.000000e-08
GCST007732_5	Allergic disease (asthma, hay fever or eczema)	5.000000e-06

EFO canonical traits (13, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0004337	intelligence
EFO:0004462	PR interval
EFO:0004341	body fat distribution
EFO:0004312	vital capacity
EFO:0004314	forced expiratory volume
EFO:0009695	household income
EFO:0008111	diet measurement
EFO:0004346	neuroimaging measurement
EFO:0004528	mean corpuscular hemoglobin concentration
EFO:0005091	monocyte count
EFO:0007985	platelet crit
EFO:0009188	Red cell distribution width

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

38 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	increases expression	4
sodium arsenite	affects cotreatment, increases abundance, increases expression	3
Tobacco Smoke Pollution	affects expression, increases expression	3
Cadmium Chloride	decreases expression, increases abundance, increases expression	3
bisphenol A	affects expression, decreases expression	2
Cadmium	decreases expression, increases abundance, increases expression	2
Tunicamycin	increases expression	2
Valproic Acid	increases expression	2
Thapsigargin	increases expression	2
glycidyl methacrylate	increases expression	1
manganese chloride	increases abundance, increases expression, affects cotreatment	1
perfluorooctane sulfonic acid	increases expression	1
JP8 aviation fuel	decreases expression	1
ICG 001	increases expression	1
Grape Seed Proanthocyanidins	decreases expression, affects cotreatment	1
bisphenol AF	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Acetaminophen	affects response to substance	1
Ethanol	affects cotreatment, increases abundance, increases expression	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Catechin	affects cotreatment, decreases expression	1
Cisplatin	decreases expression	1
Cytarabine	decreases expression	1
Doxorubicin	increases expression	1
Gasoline	affects cotreatment, increases abundance, increases expression	1
Ivermectin	decreases expression	1
Manganese	increases abundance, increases expression, affects cotreatment	1
Polycyclic Aromatic Hydrocarbons	increases abundance, increases expression, affects cotreatment	1
Smoke	decreases expression	1
Dihydrotestosterone	increases expression	1

Clinical trials (associated diseases)

7 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00337636	PHASE1	COMPLETED	Study of HuCNS-SC Cells in Patients With Infantile or Late Infantile Neuronal Ceroid Lipofuscinosis (NCL)
NCT01238315	PHASE1	WITHDRAWN	Safety and Efficacy Study of HuCNS-SC in Subjects With Neuronal Ceroid Lipofuscinosis
NCT07582484	PHASE1/PHASE2	NOT_YET_RECRUITING	Gene Therapy Trial for CLN6 Batten Disease
NCT01873924	Not specified	RECRUITING	Clinical and Neuropsychological Investigations in Batten Disease
NCT01966757	Not specified	COMPLETED	Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities
NCT04613089	Not specified	RECRUITING	Natural History and Longitudinal Clinical Assessments in NCL / Batten Disease, the International DEM-CHILD Database
NCT06844877	Not specified	RECRUITING	Italian NCL Registry: a Registry for NCL as an Integration Tool for Future Therapeutic Strategies