JCAD
gene geneOn this page
Summary
JCAD (junctional cadherin 5 associated, HGNC:29283) is a protein-coding gene on chromosome 10p11.23, encoding Junctional cadherin 5-associated protein (Q9P266).
This gene encodes an endothelial cell-to-cell junction protein. Naturally occurring mutations in this gene are associated with coronary artery disease, late onset alzheimer disease, and emphysema distribution.
Source: NCBI Gene 57608 — RefSeq curated summary.
At a glance
- GWAS associations: 30
- Clinical variants (ClinVar): 294 total
- MANE Select transcript:
NM_020848
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29283 |
| Approved symbol | JCAD |
| Name | junctional cadherin 5 associated |
| Location | 10p11.23 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000165757 |
| Ensembl biotype | protein_coding |
| OMIM | 614398 |
| Entrez | 57608 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 2 protein_coding_CDS_not_defined, 1 protein_coding
ENST00000375377, ENST00000464386, ENST00000465712
RefSeq mRNA: 4 — MANE Select: NM_020848
NM_001350001, NM_001350021, NM_001350022, NM_020848
CCDS: CCDS41500
Canonical transcript exons
ENST00000375377 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001096241 | 30026103 | 30029866 |
| ENSE00001466892 | 30012803 | 30017917 |
| ENSE00001466904 | 30059482 | 30059586 |
| ENSE00003496588 | 30047532 | 30047871 |
Expression profiles
Bgee: expression breadth ubiquitous, 266 present calls, max score 93.34.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.6061 / max 153.8346, expressed in 1172 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 108899 | 9.0042 | 1167 |
| 108900 | 0.5501 | 133 |
| 108898 | 0.0518 | 30 |
Top tissues by expression
289 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| saphenous vein | UBERON:0007318 | 93.34 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 93.16 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 92.28 | gold quality |
| right lung | UBERON:0002167 | 92.22 | gold quality |
| vena cava | UBERON:0004087 | 92.10 | gold quality |
| putamen | UBERON:0001874 | 91.81 | gold quality |
| apex of heart | UBERON:0002098 | 90.95 | gold quality |
| calcaneal tendon | UBERON:0003701 | 90.73 | gold quality |
| caudate nucleus | UBERON:0001873 | 90.72 | gold quality |
| tendon | UBERON:0000043 | 90.27 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 90.23 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 89.75 | gold quality |
| thoracic aorta | UBERON:0001515 | 88.64 | gold quality |
| ascending aorta | UBERON:0001496 | 88.45 | gold quality |
| pericardium | UBERON:0002407 | 88.41 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 88.26 | gold quality |
| upper lobe of lung | UBERON:0008948 | 88.12 | gold quality |
| lung | UBERON:0002048 | 88.07 | gold quality |
| colonic epithelium | UBERON:0000397 | 87.95 | gold quality |
| myometrium | UBERON:0001296 | 87.95 | gold quality |
| primary visual cortex | UBERON:0002436 | 87.71 | gold quality |
| prefrontal cortex | UBERON:0000451 | 87.62 | gold quality |
| body of uterus | UBERON:0009853 | 87.38 | gold quality |
| nucleus accumbens | UBERON:0001882 | 86.89 | gold quality |
| lower lobe of lung | UBERON:0008949 | 86.82 | gold quality |
| occipital lobe | UBERON:0002021 | 86.64 | gold quality |
| right frontal lobe | UBERON:0002810 | 86.55 | gold quality |
| left uterine tube | UBERON:0001303 | 86.51 | gold quality |
| right atrium auricular region | UBERON:0006631 | 86.18 | gold quality |
| endothelial cell | CL:0000115 | 86.02 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.60 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
223 targeting JCAD, 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-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
Literature-anchored findings (GeneRIF, showing 9)
- KIAA1462 gene encodes a yet uncharacterized protein, on chromosome 10p11.23 with genome-wide significant association for CAD/MI (PMID:21088011)
- Results in this study identify the KIAA1462 locus as a candidate locus for late onset Alzheimer disease in APOE4 carriers. (PMID:24349219)
- JCAD has a redundant functional role in physiological angiogenesis but serves a pivotal role in pathological angiogenic process after birth. (PMID:28705794)
- High JCAD expression is associated with Liver Cancer. (PMID:28775168)
- JCAD negatively regulates Hippo signaling in endothelial cells and contributes to atherosclerosis by regulating YAP activity and endothelial dysfunction. (PMID:29794114)
- The novel coronary artery disease risk gene JCAD/KIAA1462 promotes endothelial dysfunction and atherosclerosis. (PMID:31539914)
- A key role for the novel coronary artery disease gene JCAD in atherosclerosis via shear stress mechanotransduction. (PMID:31584065)
- JCAD promotes arterial thrombosis through PI3K/Akt modulation: a translational study. (PMID:36469488)
- JCAD deficiency attenuates activation of hepatic stellate cells and cholestatic fibrosis. (PMID:38190829)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Jcad | ENSMUSG00000033960 |
| rattus_norvegicus | Jcad | ENSRNOG00000027938 |
Protein
Protein identifiers
Junctional cadherin 5-associated protein — Q9P266 (reviewed: Q9P266)
Alternative names: Junctional protein associated with coronary artery disease
All UniProt accessions (1): Q9P266
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Cell junction. Adherens junction.
RefSeq proteins (4): NP_001336930, NP_001336950, NP_001336951, NP_065899* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR028221 | JCAD | Family |
Pfam: PF15351
UniProt features (39 total): compositionally biased region 15, region of interest 9, sequence variant 6, modified residue 4, sequence conflict 4, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9P266-F1 | 43.18 | 0.01 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (4): 1044, 1050, 1194, 1281
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 183 (showing top):
GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, WALLACE_PROSTATE_CANCER_RACE_UP, GOBP_VASCULAR_ENDOTHELIAL_GROWTH_FACTOR_SIGNALING_PATHWAY, GOBP_POSITIVE_REGULATION_OF_VASCULATURE_DEVELOPMENT, GOBP_CELL_MIGRATION_INVOLVED_IN_SPROUTING_ANGIOGENESIS, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE, GOCC_RUFFLE, GOBP_POSITIVE_REGULATION_OF_ENDOTHELIAL_CELL_MIGRATION, BROWNE_HCMV_INFECTION_48HR_DN, GOBP_BLOOD_VESSEL_ENDOTHELIAL_CELL_MIGRATION, MODULE_205, GOBP_SPROUTING_ANGIOGENESIS, GOBP_REGULATION_OF_ENDOTHELIAL_CELL_MIGRATION, GOBP_REGULATION_OF_CELL_MIGRATION_INVOLVED_IN_SPROUTING_ANGIOGENESIS, BROWNE_HCMV_INFECTION_14HR_DN
GO Biological Process (6): cell adhesion (GO:0007155), positive regulation of MAPK cascade (GO:0043410), positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050), positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748), positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:1903589), positive regulation of sprouting angiogenesis (GO:1903672)
GO Molecular Function (0):
GO Cellular Component (6): adherens junction (GO:0005912), ruffle membrane (GO:0032587), perinuclear region of cytoplasm (GO:0048471), cell-cell junction (GO:0005911), cell junction (GO:0030054), anchoring junction (GO:0070161)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| cellular process | 1 |
| MAPK cascade | 1 |
| regulation of MAPK cascade | 1 |
| positive regulation of intracellular signal transduction | 1 |
| cell migration involved in sprouting angiogenesis | 1 |
| positive regulation of blood vessel endothelial cell migration | 1 |
| regulation of cell migration involved in sprouting angiogenesis | 1 |
| positive regulation of signal transduction | 1 |
| vascular endothelial growth factor signaling pathway | 1 |
| regulation of vascular endothelial growth factor signaling pathway | 1 |
| positive regulation of endothelial cell proliferation | 1 |
| blood vessel endothelial cell proliferation involved in sprouting angiogenesis | 1 |
| regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis | 1 |
| sprouting angiogenesis | 1 |
| positive regulation of angiogenesis | 1 |
| regulation of sprouting angiogenesis | 1 |
| cell-cell junction | 1 |
| ruffle | 1 |
| cell projection membrane | 1 |
| leading edge membrane | 1 |
| cytoplasm | 1 |
| anchoring junction | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
542 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| JCAD | LATS2 | Q9NRM7 | 623 |
| JCAD | ADISSP | Q9GZN8 | 552 |
| JCAD | ADAMTS7 | Q9UKP4 | 507 |
| JCAD | TOR4A | Q9NXH8 | 490 |
| JCAD | HIP1R | O75146 | 475 |
| JCAD | MTPAP | Q9NVV4 | 472 |
| JCAD | SWAP70 | Q9UH65 | 460 |
| JCAD | PDZK1 | Q5T2W1 | 458 |
| JCAD | UGCG | Q16739 | 457 |
| JCAD | RNF212 | Q495C1 | 453 |
| JCAD | CPNE1 | Q99829 | 442 |
| JCAD | ZNF799 | Q96GE5 | 439 |
| JCAD | PCYT2 | Q99447 | 437 |
| JCAD | BRK1 | Q8WUW1 | 433 |
| JCAD | SEC24C | P53992 | 432 |
IntAct
24 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CAMKV | AP3B1 | psi-mi:“MI:0914”(association) | 0.640 |
| YWHAG | BLTP3B | psi-mi:“MI:0914”(association) | 0.640 |
| YWHAG | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.640 |
| DYNLL2 | BLTP3B | psi-mi:“MI:0914”(association) | 0.640 |
| YWHAH | BLTP3B | psi-mi:“MI:0914”(association) | 0.570 |
| YWHAH | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.570 |
| YAP1 | JCAD | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| NCKIPSD | GEMIN4 | psi-mi:“MI:2364”(proximity) | 0.420 |
| BVLF1 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| EGLN3 | FAM168B | psi-mi:“MI:0914”(association) | 0.350 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| CREB3L2 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| FIBP | AGRN | psi-mi:“MI:0914”(association) | 0.350 |
| MCM7 | psi-mi:“MI:0914”(association) | 0.350 | |
| CDH1 | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| CDC14A | CEP290 | psi-mi:“MI:2364”(proximity) | 0.270 |
| SFN | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.270 |
| YWHAE | PLEKHG3 | psi-mi:“MI:2364”(proximity) | 0.270 |
| YWHAQ | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.270 |
| Lats2 | CCDC85C | psi-mi:“MI:2364”(proximity) | 0.270 |
| DYRK1A | JCAD | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (44): KIAA1462 (Affinity Capture-MS), KIAA1462 (Proximity Label-MS), KIAA1462 (Proximity Label-MS), KIAA1462 (Affinity Capture-Western), KIAA1462 (Affinity Capture-MS), KIAA1462 (Affinity Capture-RNA), KIAA1462 (Proximity Label-MS), KIAA1462 (Affinity Capture-MS), KIAA1462 (Proximity Label-MS), KIAA1462 (Proximity Label-MS), KIAA1462 (Proximity Label-MS), KIAA1462 (Proximity Label-MS), KIAA1462 (Proximity Label-MS), KIAA1462 (Proximity Label-MS), KIAA1462 (Proximity Label-MS)
ESM2 similar proteins: A0A096MK47, A0JNH1, A6H5Y1, A6NCI8, A6NFA0, A6NGG8, B2RQL2, D3Z1D3, D3ZMK9, E9Q286, E9Q309, M0RD54, O14513, P51816, Q01613, Q03172, Q05860, Q2M2Z5, Q32LN6, Q3MHH3, Q3UXL4, Q3V0A6, Q569L8, Q571I4, Q5DTX6, Q5FW52, Q5HYW2, Q5R9I1, Q5VT06, Q5VWP3, Q60988, Q66HG9, Q68DA7, Q6P1W5, Q6P9P0, Q6PAC4, Q6PG16, Q711Q0, Q7TP36, Q7TSA6
Diamond homologs: A2VE02, Q5DTX6, Q9P266
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 29 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.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Activation of BAD and translocation to mitochondria | 5 | 181.3× | 4e-09 |
| Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex | 5 | 159.9× | 4e-09 |
| SARS-CoV-1 targets host intracellular signalling and regulatory pathways | 5 | 159.9× | 4e-09 |
| Activation of BH3-only proteins | 5 | 118.2× | 2e-08 |
| RHO GTPases activate PKNs | 5 | 75.5× | 1e-07 |
| Intrinsic Pathway for Apoptosis | 5 | 69.7× | 2e-07 |
| Apoptosis | 6 | 48.0× | 7e-08 |
| Programmed Cell Death | 6 | 41.8× | 1e-07 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| intracellular protein localization | 5 | 21.8× | 7e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
294 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 247 |
| Likely benign | 26 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1144 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:30047867:CAGCA:C | acceptor_gain | 0.9900 |
| 10:30047872:C:CC | acceptor_gain | 0.9900 |
| 10:30059475:GACTT:G | donor_loss | 0.9900 |
| 10:30059476:ACTT:A | donor_loss | 0.9900 |
| 10:30059477:CTTA:C | donor_loss | 0.9900 |
| 10:30059478:TTA:T | donor_loss | 0.9900 |
| 10:30059479:TACCG:T | donor_loss | 0.9900 |
| 10:30059480:A:AC | donor_gain | 0.9900 |
| 10:30059480:A:AT | donor_loss | 0.9900 |
| 10:30059481:C:CC | donor_gain | 0.9900 |
| 10:30059481:CCGAG:C | donor_gain | 0.9900 |
| 10:30017847:A:AC | donor_gain | 0.9800 |
| 10:30017848:A:C | donor_gain | 0.9800 |
| 10:30029865:ACC:A | acceptor_loss | 0.9800 |
| 10:30029868:T:C | acceptor_loss | 0.9800 |
| 10:30047525:AACTT:A | donor_loss | 0.9800 |
| 10:30047526:ACTTA:A | donor_loss | 0.9800 |
| 10:30047527:CTT:C | donor_loss | 0.9800 |
| 10:30047528:TTA:T | donor_loss | 0.9800 |
| 10:30047529:T:TG | donor_loss | 0.9800 |
| 10:30047530:A:AC | donor_gain | 0.9800 |
| 10:30047530:AC:A | donor_gain | 0.9800 |
| 10:30047531:C:CC | donor_gain | 0.9800 |
| 10:30047531:C:CG | donor_loss | 0.9800 |
| 10:30047531:CC:C | donor_gain | 0.9800 |
| 10:30047531:CCCCG:C | donor_gain | 0.9800 |
| 10:30047870:CA:C | acceptor_gain | 0.9800 |
| 10:30035898:G:A | donor_gain | 0.9700 |
| 10:30047530:ACC:A | donor_gain | 0.9700 |
| 10:30047530:ACCC:A | donor_gain | 0.9700 |
AlphaMissense
8924 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:30027644:A:G | L835S | 0.998 |
| 10:30027691:A:C | F819L | 0.997 |
| 10:30027691:A:T | F819L | 0.997 |
| 10:30027693:A:G | F819L | 0.997 |
| 10:30047793:A:G | L7P | 0.997 |
| 10:30027692:A:G | F819S | 0.996 |
| 10:30027659:T:G | D830A | 0.995 |
| 10:30027659:T:A | D830V | 0.994 |
| 10:30027660:C:G | D830H | 0.994 |
| 10:30027669:G:T | R827S | 0.994 |
| 10:30027686:A:G | L821P | 0.994 |
| 10:30027659:T:C | D830G | 0.993 |
| 10:30027663:A:G | W829R | 0.993 |
| 10:30027663:A:T | W829R | 0.993 |
| 10:30028407:A:G | C581R | 0.993 |
| 10:30028400:A:T | V583D | 0.992 |
| 10:30028403:A:G | L582S | 0.992 |
| 10:30028408:A:C | F580L | 0.992 |
| 10:30028408:A:T | F580L | 0.992 |
| 10:30028410:A:G | F580L | 0.992 |
| 10:30047778:C:T | G12E | 0.992 |
| 10:30027672:G:T | R826S | 0.990 |
| 10:30027682:T:A | K822N | 0.990 |
| 10:30027682:T:G | K822N | 0.990 |
| 10:30028405:G:C | C581W | 0.990 |
| 10:30028409:A:G | F580S | 0.990 |
| 10:30047782:G:C | H11D | 0.990 |
| 10:30047790:A:G | L8P | 0.990 |
| 10:30026882:A:G | I1089T | 0.989 |
| 10:30026891:G:T | A1086D | 0.989 |
dbSNP variants (sampled 300 via entrez): RS1000018922 (10:30036174 T>C), RS1000058756 (10:30066046 A>C), RS1000076251 (10:30034253 A>G), RS1000160907 (10:30084313 T>A,C), RS1000164959 (10:30065573 C>G), RS1000169225 (10:30056655 A>C,G), RS1000192921 (10:30036368 G>T), RS1000215571 (10:30030665 G>A), RS1000236411 (10:30090489 C>T), RS1000274206 (10:30020961 T>C), RS1000317119 (10:30030041 C>G), RS1000327477 (10:30097436 A>G), RS1000381419 (10:30014482 T>C), RS1000382222 (10:30061679 G>A,C,T), RS1000402571 (10:30097167 A>G,T)
Disease associations
OMIM: gene MIM:614398 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
30 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000875_1 | Coronary heart disease | 1.000000e-11 |
| GCST000999_3 | Coronary heart disease | 4.000000e-08 |
| GCST003116_25 | Coronary artery disease | 4.000000e-11 |
| GCST003117_18 | Myocardial infarction | 7.000000e-09 |
| GCST003761_8 | Emphysema distribution in smoking | 4.000000e-08 |
| GCST004185_16 | Lung function (FEV1/FVC) | 8.000000e-11 |
| GCST004278_4 | Pulse pressure | 3.000000e-15 |
| GCST004787_45 | Coronary artery disease (myocardial infarction, percutaneous transluminal coronary angioplasty, coronary artery bypass grafting, angina or chromic ischemic heart disease) | 4.000000e-12 |
| GCST005194_38 | Coronary artery disease | 1.000000e-17 |
| GCST005195_127 | Coronary artery disease | 2.000000e-17 |
| GCST005196_28 | Coronary artery disease | 2.000000e-17 |
| GCST005352_20 | Paclitaxel disposition in epithelial ovarian cancer | 6.000000e-06 |
| GCST005580_193 | Intraocular pressure | 4.000000e-08 |
| GCST006168_56 | Pulse pressure x alcohol consumption interaction (2df test) | 1.000000e-12 |
| GCST006168_58 | Pulse pressure x alcohol consumption interaction (2df test) | 2.000000e-15 |
| GCST006427_46 | Depression in smokers | 1.000000e-07 |
| GCST006716_12 | Alcohol use disorder (total score) | 1.000000e-08 |
| GCST007096_72 | Pulse pressure | 1.000000e-19 |
| GCST007097_112 | Pulse pressure | 3.000000e-08 |
| GCST007097_113 | Pulse pressure | 9.000000e-10 |
| GCST007268_39 | Diastolic blood pressure | 3.000000e-12 |
| GCST007269_185 | Pulse pressure | 3.000000e-28 |
| GCST007430_115 | Peak expiratory flow | 1.000000e-10 |
| GCST007431_156 | Lung function (FEV1/FVC) | 3.000000e-08 |
| GCST010479_13 | Coronary artery disease | 2.000000e-08 |
| GCST010796_5204 | Electrocardiogram morphology (amplitude at temporal datapoints) | 4.000000e-09 |
| GCST010796_5205 | Electrocardiogram morphology (amplitude at temporal datapoints) | 7.000000e-09 |
| GCST010796_5206 | Electrocardiogram morphology (amplitude at temporal datapoints) | 4.000000e-08 |
| GCST010866_141 | Coronary artery disease | 6.000000e-15 |
| GCST011365_74 | Myocardial infarction | 7.000000e-10 |
EFO canonical traits (9, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005850 | emphysema pattern measurement |
| EFO:0004713 | FEV/FVC ratio |
| EFO:0005763 | pulse pressure measurement |
| EFO:0004695 | intraocular pressure measurement |
| EFO:0004329 | alcohol drinking |
| EFO:0009458 | alcohol use disorder measurement |
| EFO:0006336 | diastolic blood pressure |
| EFO:0009718 | peak expiratory flow |
| EFO:0004327 | electrocardiography |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, increases methylation | 7 |
| trichostatin A | increases expression, affects cotreatment | 3 |
| Aflatoxin B1 | affects expression, increases expression, increases methylation | 3 |
| entinostat | increases expression, affects cotreatment | 2 |
| Vorinostat | affects cotreatment, increases expression | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Benzo(a)pyrene | increases expression, affects methylation, decreases methylation | 2 |
| Estradiol | affects cotreatment, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| sodium arsenite | increases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| 3-nitrobenzanthrone | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Copper | affects binding, decreases expression | 1 |
| Diethylhexyl Phthalate | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Drugs, Chinese Herbal | decreases expression | 1 |
| Nickel | decreases expression | 1 |
| Tetrachlorodibenzodioxin | decreases expression, increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.