DRAM1

Summary

DRAM1 (DNA damage regulated autophagy modulator 1, HGNC:25645) is a protein-coding gene on chromosome 12q23.2, encoding DNA damage-regulated autophagy modulator protein 1 (Q8N682). Lysosomal modulator of autophagy that plays a central role in p53/TP53-mediated apoptosis.

This gene is regulated as part of the p53 tumor suppressor pathway. The gene encodes a lysosomal membrane protein that is required for the induction of autophagy by the pathway. Decreased transcriptional expression of this gene is associated with various tumors. This gene has a pseudogene on chromosome 4.

Source: NCBI Gene 55332 — RefSeq curated summary.

At a glance

• GWAS associations: 10
• Clinical variants (ClinVar): 36 total
• MANE Select transcript: NM_018370

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25645
Approved symbol	DRAM1
Name	DNA damage regulated autophagy modulator 1
Location	12q23.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ11259, DRAM
Ensembl gene	ENSG00000136048
Ensembl biotype	protein_coding
OMIM	610776
Entrez	55332

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 8 protein_coding, 2 retained_intron, 2 nonsense_mediated_decay

ENST00000258534, ENST00000544152, ENST00000546729, ENST00000549066, ENST00000549365, ENST00000551403, ENST00000614926, ENST00000858773, ENST00000858774, ENST00000858775, ENST00000963725, ENST00000963726

RefSeq mRNA: 1 — MANE Select: NM_018370 NM_018370

CCDS: CCDS41823

Canonical transcript exons

ENST00000258534 — 7 exons

Exon	Start	End
ENSE00000922844	101908186	101908363
ENSE00001103640	101921216	101923612
ENSE00001250883	101877580	101877920
ENSE00003514426	101897863	101897930
ENSE00003607345	101920109	101920201
ENSE00003680494	101914174	101914232
ENSE00003684161	101901291	101901433

Expression profiles

Bgee: expression breadth ubiquitous, 235 present calls, max score 96.67.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 55.0810 / max 950.0196, expressed in 1762 samples.

FANTOM5 promoters (12 alternative TSS)

Promoter ID	TPM avg	Samples expressed
127666	22.3393	1546
127665	9.8904	1408
127664	9.2140	1569
127658	3.9082	722
127667	3.2671	846
127660	1.6983	514
127661	1.6549	437
127662	1.1811	418
127663	0.6921	257
206865	0.5810	304

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower lobe of lung	UBERON:0008949	96.67	gold quality
upper lobe of lung	UBERON:0008948	94.31	gold quality
upper lobe of left lung	UBERON:0008952	94.10	gold quality
stromal cell of endometrium	CL:0002255	93.74	gold quality
lung	UBERON:0002048	93.50	gold quality
right lung	UBERON:0002167	92.58	gold quality
decidua	UBERON:0002450	91.44	gold quality
monocyte	CL:0000576	90.74	gold quality
visceral pleura	UBERON:0002401	90.70	gold quality
mononuclear cell	CL:0000842	90.37	gold quality
leukocyte	CL:0000738	90.11	gold quality
metanephros cortex	UBERON:0010533	89.48	gold quality
vermiform appendix	UBERON:0001154	88.33	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.98	gold quality
smooth muscle tissue	UBERON:0001135	87.62	gold quality
right adrenal gland cortex	UBERON:0035827	87.58	gold quality
left adrenal gland	UBERON:0001234	87.40	gold quality
omental fat pad	UBERON:0010414	87.29	gold quality
peritoneum	UBERON:0002358	87.24	gold quality
gall bladder	UBERON:0002110	87.18	gold quality
right adrenal gland	UBERON:0001233	87.01	gold quality
left adrenal gland cortex	UBERON:0035825	86.81	gold quality
pleura	UBERON:0000977	86.50	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	86.38	gold quality
adipose tissue of abdominal region	UBERON:0007808	86.33	gold quality
body of stomach	UBERON:0001161	86.21	gold quality
adrenal gland	UBERON:0002369	86.05	gold quality
mucosa of stomach	UBERON:0001199	85.89	gold quality
calcaneal tendon	UBERON:0003701	85.82	gold quality
pancreatic ductal cell	CL:0002079	85.69	silver quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-HCAD-1	yes	84.94
E-ANND-3	yes	25.90
E-GEOD-130148	yes	13.30
E-MTAB-10290	no	130.76

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F1, TP53

miRNA regulators (miRDB)

108 targeting DRAM1, 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-5193	100.00	67.26	1744
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-433-3P	99.98	69.37	1203
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-579-3P	99.86	71.66	3628

Literature-anchored findings (GeneRIF, showing 29)

• Collectively therefore, these studies not only report a stress-induced regulator of autophagy but also highlight the relationship of DRAM and autophagy to p53 function and damage-induced programmed cell death. (PMID:16839881)
• DRAM links autophagy to p53 and programmed cell death. (PMID:17102582)
• identified FLJ11259/DRAM as a p53-inducible member of a novel family of transmembrane proteins. FLJ11259/DRAM may be an important modulator of p53 responses in diverse tumor types. (PMID:17397945)
• DRAM is activated by p53 which is required for the ability of p53 to induce autophagy and is also critical for the ability of p53 to induce programmed cell death. (PMID:19556885)
• c-Jun NH2-terminal kinase as a novel mediator of DRAM protein regulation in Ewing sarcoma cells (PMID:19706754)
• Overexpression of DRAM induces VRK1 downregulation and the opposite effect was observed by its knockdown. (PMID:21386980)
• DRAM-1 encodes not just one mRNA, but a series of p53-inducible splice variants which are expressed at varying levels in multiple human and mouse cell lines. (PMID:22082963)
• these findings shed new light on the role of autophagy in GBM and reveal a novel function of the autophagy regulators DRAM1 and p62 in control of migration/invasion in cancer stem cells. (PMID:22525272)
• p73-regulated DRAM-1 is functionally involved in neutrophil differentiation of acute promyelocytic leukemia cells. (PMID:22981223)
• Overexpression of miR-199a-5p inhibits DRAM1 and Beclin1 expression. (PMID:23337876)
• DRAM triggers lysosomal membrane permeabilization and cell death in CD4(+) T cells infected with HIV. (PMID:23658518)
• DRAM1 affects autophagy through lysosomal acidification, fusion of lysosomes with autophagosomes and clearance of autophagosomes. (PMID:23696801)
• DRAM gene expression is down regulated by oxidative stress through the mediation of reactive oxygen species (PMID:23832602)
• DRAM is an important gene for the enhancement of p53-dependent apoptosis. (PMID:24133622)
• Suggest that promoting DRAM-mediated autophagy together with PI3K/AKT inhibition might be more effective for autophagy-based therapy in hepatoma. (PMID:24556693)
• DRAM1 mediates autophagic defense against a broader range of intracellular pathogens, since DRAM1 expression was also induced by the common bacterial endotoxin lipopolysaccharide. (PMID:24922577)
• DRAM1 regulates apoptosis by inhibiting BAX degradation. (PMID:25633293)
• Altogether, these findings suggest that in normal/high glucose condition a mutual unbalance between p53-dependent apoptosis (PUMA) and autophagy (DRAM) gene occurred, modifying the ADR-induced cancer cell death in HG both in vitro and in vivo. (PMID:28893313)
• Overexpression of full-length AIFM1 suppresses proliferation and induces apoptosis of HepG2 and Hep3B cells. Caspase 3 and DRAM are involved in full-length AIFM1-induced apoptosis in HepG2 and Hep3B cells. (PMID:29501488)
• Our results indicated that DRAM1 protected cardiomyocytes from ischemia stress-induced autophagy flux obstacle and uncovered a novel DRAM1-Atg7-Atg12/Atg5 autophagy flux regulation pathway under conditions of myocardial ischemic stress. (PMID:30144448)
• The expression of serum DRAM1 messenger RNA (mRNA), ARSA mRNA, hsa-miR-2053 and lncRNA-RP1-86D1.3 were positive in 78.3%, 90%, 85%, and 83.3% of MPM patients, respectively. (PMID:30362153)
• these results identify that the class I PI3K-Akt-rpS6 pathway is regulated by DRAM1 and may provide new insight into the potential role of DRAM1 in human cancers. (PMID:30902093)
• DRAM1 deficiency affects the organization and function of the Golgi apparatus. (PMID:31356858)
• DRAM-1 binds the membrane carrier protein SCAMP3 and the amino acid transporters SLC1A5 and LAT1, directing them to lysosomes and permitting efficient mTORC1 activation. (PMID:31492633)
• DRAM1 plays a tumor suppressor role in NSCLC cells by promoting lysosomal degradation of EGFR. (PMID:32943616)
• DNA Damage-Regulated Autophagy Modulator 1 (DRAM1) Mediates Autophagy and Apoptosis of Intestinal Epithelial Cells in Inflammatory Bowel Disease. (PMID:33184797)
• DRAM1 plays a tumor suppressor role in clear cell renal cell carcinoma through modulating Akt signaling. (PMID:35299128)
• ARHGAP4 promotes leukemogenesis in acute myeloid leukemia by inhibiting DRAM1 signaling. (PMID:37443303)
• DNA damage-regulated autophagy modulator 1 prevents glioblastoma cells proliferation by regulating lysosomal function and autophagic flux stability. (PMID:38537746)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	dram1	ENSDARG00000045561
mus_musculus	Dram1	ENSMUSG00000020057
rattus_norvegicus	Dram1	ENSRNOG00000038916
drosophila_melanogaster	CG4025	FBGN0025624
caenorhabditis_elegans		WBGENE00007878
caenorhabditis_elegans		WBGENE00020967

Paralogs (4): DRAM2 (ENSG00000156171), TMEM150A (ENSG00000168890), TMEM150B (ENSG00000180061), TMEM150C (ENSG00000249242)

Protein

Protein identifiers

DNA damage-regulated autophagy modulator protein 1 — Q8N682 (reviewed: Q8N682)

Alternative names: Damage-regulated autophagy modulator

All UniProt accessions (4): A0A0B4J256, Q8N682, H0YHJ0, H0YHV0

UniProt curated annotations — full annotation on UniProt →

Function. Lysosomal modulator of autophagy that plays a central role in p53/TP53-mediated apoptosis. Not involved in p73/TP73-mediated autophagy.

Subcellular location. Lysosome membrane.

Induction. By p53/TP53 and p73/TP73. Directly activated by p53/TP53. Significantly down-regulated in tumor cell lines by methylation-dependent transcriptional silencing.

Similarity. Belongs to the DRAM/TMEM150 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8N682-1	1	yes
Q8N682-2	2

RefSeq proteins (1): NP_060840* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019402	CWH43_N	Domain
IPR050911	DRAM/TMEM150_Autophagy_Mod	Family

Pfam: PF10277

UniProt features (8 total): transmembrane region 6, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N682-F1	94.73	0.87

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 262 (showing top): GOBP_REGULATION_OF_AUTOPHAGY, KOBAYASHI_EGFR_SIGNALING_24HR_UP, GOCC_VACUOLAR_MEMBRANE, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, MODULE_493, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, WIELAND_UP_BY_HBV_INFECTION, BOYLAN_MULTIPLE_MYELOMA_D_DN, MARTINEZ_RB1_TARGETS_UP, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_LEVELS, FOSTER_TOLERANT_MACROPHAGE_UP, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_RESPONSE_TO_OXYGEN_LEVELS, INGRAM_SHH_TARGETS_DN

GO Biological Process (4): autophagy (GO:0006914), apoptotic process (GO:0006915), regulation of autophagy (GO:0010506), cellular response to oxygen-glucose deprivation (GO:0090650)

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

GO Cellular Component (5): cytoplasm (GO:0005737), lysosome (GO:0005764), lysosomal membrane (GO:0005765), endomembrane system (GO:0012505), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
catabolic process	1
transmembrane transport	1
process utilizing autophagic mechanism	1
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
autophagy	1
regulation of catabolic process	1
cellular response to nutrient levels	1
cellular response to decreased oxygen levels	1
response to oxygen-glucose deprivation	1
binding	1
intracellular anatomical structure	1
lytic vacuole	1
lysosome	1
lytic vacuole membrane	1
vacuole	1
plasma membrane	1

Protein interactions and networks

STRING

804 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DRAM1	TP53	P04637	830
DRAM1	SCAMP3	O14828	696
DRAM1	BECN1	Q14457	621
DRAM1	ATG5	Q9H1Y0	581
DRAM1	SESN1	Q9Y6P5	573
DRAM1	ATG7	O95352	572
DRAM1	UVRAG	Q9P2Y5	557
DRAM1	ATG12	O94817	543
DRAM1	SQSTM1	Q13501	523
DRAM1	SESN2	P58004	513
DRAM1	AMBRA1	Q9C0C7	511
DRAM1	ULK1	O75385	507
DRAM1	TIGAR	Q9NQ88	506
DRAM1	ULK2	Q8IYT8	506
DRAM1	RB1CC1	Q8TDY2	502

IntAct

27 interactions, top by confidence:

A	B	Type	Score
DRAM1	C1orf21	psi-mi:“MI:0915”(physical association)	0.560
C1orf21	DRAM1	psi-mi:“MI:0915”(physical association)	0.560
CD164L2	DRAM1	psi-mi:“MI:0915”(physical association)	0.560
GPR42	DRAM1	psi-mi:“MI:0915”(physical association)	0.560
CLRN1	DRAM1	psi-mi:“MI:0915”(physical association)	0.560
EVI2B	DRAM1	psi-mi:“MI:0915”(physical association)	0.560
DRAM1	LRRC4C	psi-mi:“MI:0915”(physical association)	0.560
DRAM1	TIMMDC1	psi-mi:“MI:0915”(physical association)	0.560
DRAM1	MS4A7	psi-mi:“MI:0915”(physical association)	0.560
EPS15	DRAM1	psi-mi:“MI:0407”(direct interaction)	0.440
DRAM1	CREB3	psi-mi:“MI:0915”(physical association)	0.370
DRAM1	CD164L2	psi-mi:“MI:0915”(physical association)	0.000
DRAM1	GPR42	psi-mi:“MI:0915”(physical association)	0.000
DRAM1	CLRN1	psi-mi:“MI:0915”(physical association)	0.000
DRAM1	LRRC4C	psi-mi:“MI:0915”(physical association)	0.000
DRAM1	TIMMDC1	psi-mi:“MI:0915”(physical association)	0.000
DRAM1	EVI2B	psi-mi:“MI:0915”(physical association)	0.000
DRAM1	MS4A7	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (12): C1orf21 (Two-hybrid), DRAM1 (Two-hybrid), DRAM1 (Two-hybrid), DRAM1 (Two-hybrid), LRRC4C (Two-hybrid), CLRN1 (Two-hybrid), MS4A7 (Two-hybrid), CD164L2 (Two-hybrid), EVI2B (Two-hybrid), DRAM1 (Affinity Capture-RNA), DRAM1 (Protein-peptide), APP (Reconstituted Complex)

ESM2 similar proteins: A2A559, A2V7M9, A6H7B8, A6NC51, A6X919, A7MBB3, A7YWP2, A8KBG2, A8WFS8, A8XST1, A9JSP6, D4AD75, P70245, Q0VFE3, Q22141, Q29M88, Q2ABP2, Q2ABP3, Q2PZI1, Q32PK2, Q3TQR0, Q3ZC48, Q4V7T3, Q4V7T7, Q4VV71, Q568I2, Q5BK09, Q5BL33, Q5EAK8, Q5M9A7, Q60774, Q63175, Q68EV0, Q6NRS6, Q6P0S3, Q6UX65, Q6ZMB5, Q7K0P4, Q8BHJ6, Q8N682

Diamond homologs: A6NC51, A7MBB3, A9JSP6, B5DFH9, B9EJG8, Q28BP2, Q32PK2, Q3ZC48, Q4V7T3, Q4V7T7, Q5BK09, Q6GPL4, Q6UX65, Q86TG1, Q8C8S3, Q8N682, Q8R218, Q91WN2, Q9CR48, Q9QZE9, A5D7C9, Q5EAK8, Q6NRS6, Q9DC58

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
TFEB	“up-regulates quantity by expression”	DRAM1	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	22
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1221 predictions. Top by Δscore:

Variant	Effect	Δscore
12:101897861:AGT:A	acceptor_gain	1.0000
12:101897862:GTG:G	acceptor_gain	1.0000
12:101877919:AGGTG:A	donor_loss	0.9900
12:101877921:G:A	donor_loss	0.9900
12:101877922:T:A	donor_loss	0.9900
12:101897857:T:TA	acceptor_gain	0.9900
12:101897861:A:AG	acceptor_gain	0.9900
12:101897862:G:GA	acceptor_gain	0.9900
12:101897862:GT:G	acceptor_gain	0.9900
12:101897931:G:GG	donor_gain	0.9900
12:101897932:T:TC	donor_loss	0.9900
12:101897933:AA:A	donor_loss	0.9900
12:101899074:T:A	acceptor_gain	0.9900
12:101920104:ATTAG:A	acceptor_gain	0.9900
12:101921214:A:AG	acceptor_gain	0.9900
12:101921215:G:GG	acceptor_gain	0.9900
12:101921215:GA:G	acceptor_gain	0.9900
12:101877921:G:GG	donor_gain	0.9800
12:101897934:AGTA:A	donor_loss	0.9800
12:101901285:TTTCA:T	acceptor_loss	0.9800
12:101901286:TTCAG:T	acceptor_loss	0.9800
12:101901287:TCAG:T	acceptor_loss	0.9800
12:101901288:CA:C	acceptor_loss	0.9800
12:101901290:G:GA	acceptor_loss	0.9800
12:101903410:C:G	donor_gain	0.9800
12:101908364:G:GG	donor_gain	0.9800
12:101914172:A:AG	acceptor_gain	0.9800
12:101914172:AGT:A	acceptor_gain	0.9800
12:101914173:G:GA	acceptor_gain	0.9800
12:101914173:GTG:G	acceptor_gain	0.9800

AlphaMissense

1557 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:101897897:T:C	F56L	0.999
12:101897899:T:A	F56L	0.999
12:101897899:T:G	F56L	0.999
12:101920145:T:A	W206R	0.999
12:101920145:T:C	W206R	0.999
12:101908207:C:G	H122D	0.998
12:101920143:A:T	E205V	0.998
12:101920144:A:C	E205D	0.998
12:101920144:A:T	E205D	0.998
12:101897871:G:A	G47E	0.997
12:101901428:T:C	F113L	0.997
12:101901430:T:A	F113L	0.997
12:101901430:T:G	F113L	0.997
12:101908231:T:C	F130L	0.997
12:101908233:T:A	F130L	0.997
12:101908233:T:G	F130L	0.997
12:101901389:G:A	G100R	0.996
12:101901389:G:C	G100R	0.996
12:101901390:G:A	G100E	0.996
12:101908207:C:A	H122N	0.996
12:101920130:A:C	S201R	0.996
12:101920132:T:A	S201R	0.996
12:101920132:T:G	S201R	0.996
12:101920147:G:C	W206C	0.996
12:101920147:G:T	W206C	0.996
12:101877878:C:A	A30D	0.995
12:101877917:T:C	I43T	0.995
12:101877920:G:A	S44N	0.995
12:101901401:T:C	C104R	0.995
12:101901408:G:A	G106E	0.995

dbSNP variants (sampled 300 via entrez): RS1000085992 (12:101912326 G>A), RS1000138272 (12:101918200 A>G), RS1000188374 (12:101895714 G>A), RS1000283280 (12:101895851 T>C), RS1000349442 (12:101889882 G>A), RS1000439708 (12:101878246 G>T), RS1000471785 (12:101908094 C>T), RS1000576017 (12:101913825 G>A), RS1000720655 (12:101901643 T>C), RS1000803093 (12:101901885 A>G), RS1000894601 (12:101890414 A>G), RS1000896553 (12:101890285 G>A), RS1000928226 (12:101885487 T>C), RS1000982685 (12:101902836 C>T), RS1001042549 (12:101896260 A>G,T)

Disease associations

OMIM: gene MIM:610776 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST001795_8	Systemic lupus erythematosus	9.000000e-12
GCST006143_7	Bone mineral density (total hip)	3.000000e-06
GCST007354_13	Intracranial aneurysm	2.000000e-08
GCST008163_191	Height	2.000000e-07
GCST010703_2	Brain morphology (MOSTest)	3.000000e-37
GCST011956_134	Systemic lupus erythematosus	4.000000e-15
GCST012207_12	Shigella-associated diarrhea	3.000000e-06
GCST90000025_986	Appendicular lean mass	2.000000e-16
GCST90000025_987	Appendicular lean mass	1.000000e-24
GCST90020028_1676	Hip circumference adjusted for BMI	5.000000e-09

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0007702	hip bone mineral density
EFO:0004346	neuroimaging measurement
EFO:0004980	appendicular lean mass
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases methylation, increases expression	5
Valproic Acid	affects cotreatment, increases expression, increases methylation	5
Cisplatin	increases expression, affects expression, decreases response to substance	4
Tretinoin	increases expression	4
Aflatoxin B1	affects expression, increases expression	4
Estradiol	affects cotreatment, increases expression, decreases expression, decreases reaction	3
Tetrachlorodibenzodioxin	affects cotreatment, increases expression, decreases expression	3
bisphenol A	decreases expression, increases methylation	2
sodium arsenite	decreases expression, increases abundance	2
entinostat	increases expression, affects cotreatment	2
Acetaminophen	decreases expression, increases expression	2
Doxorubicin	increases expression, affects response to substance	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Cadmium Chloride	decreases expression, increases abundance, increases expression	2
6,7-dimethoxy-2-(pyrrolidin-1-yl)-N-(5-(pyrrolidin-1-yl)pentyl)quinazolin-4-amine	increases expression	1
methylmercuric chloride	increases expression	1
trichostatin A	increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
arsenite	increases expression, affects reaction	1
sulforaphane	decreases expression	1
cobaltous chloride	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
nickel sulfate	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
polyhexamethyleneguanidine	increases expression	1
monomethylarsonous acid	decreases 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	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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