RASAL1

Summary

RASAL1 (RAS protein activator like 1, HGNC:9873) is a protein-coding gene on chromosome 12q24.13, encoding RasGAP-activating-like protein 1 (O95294). Probable inhibitory regulator of the Ras-cyclic AMP pathway.

The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. These proteins stimulate the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. This particular family member contains domains which are characteristic of the GAP1 subfamily of RasGAP proteins but, in contrast to the other GAP1 family members, this protein is strongly and selectively expressed in endocrine tissues. Alternatively spliced transcript variants that encode different isoforms have been described

Source: NCBI Gene 8437 — RefSeq curated summary.

At a glance

• Gene–disease (curated): breast cancer (Limited, GenCC)
• GWAS associations: 3
• Clinical variants (ClinVar): 192 total
• MANE Select transcript: NM_001301202

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9873
Approved symbol	RASAL1
Name	RAS protein activator like 1
Location	12q24.13
Locus type	gene with protein product
Status	Approved
Aliases	RASAL
Ensembl gene	ENSG00000111344
Ensembl biotype	protein_coding
OMIM	604118
Entrez	8437

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 15 protein_coding, 4 protein_coding_CDS_not_defined, 2 retained_intron

ENST00000261729, ENST00000418411, ENST00000446861, ENST00000546530, ENST00000546727, ENST00000547810, ENST00000548055, ENST00000548972, ENST00000549444, ENST00000551051, ENST00000888550, ENST00000888551, ENST00000888552, ENST00000888553, ENST00000888554, ENST00000888555, ENST00000888556, ENST00000888557, ENST00000888558, ENST00000888559, ENST00000955437

RefSeq mRNA: 13 — MANE Select: NM_001301202 NM_001193520, NM_001193521, NM_001301202, NM_001394081, NM_001394082, NM_001394083, NM_001394084, NM_001394085, NM_001394086, NM_001394087, NM_001394088, NM_001394089, NM_004658

CCDS: CCDS55888, CCDS55889, CCDS73529, CCDS9165

Canonical transcript exons

ENST00000548055 — 21 exons

Exon	Start	End
ENSE00002384360	113099278	113100068
ENSE00003459439	113130885	113130941
ENSE00003459826	113115635	113115788
ENSE00003481326	113115934	113116051
ENSE00003482973	113100628	113100680
ENSE00003486901	113115200	113115264
ENSE00003486905	113127812	113127873
ENSE00003516784	113112086	113112278
ENSE00003522106	113108085	113108222
ENSE00003535388	113101889	113102009
ENSE00003541851	113103946	113104081
ENSE00003544140	113114800	113114912
ENSE00003550903	113107097	113107241
ENSE00003571196	113105714	113105886
ENSE00003592144	113104161	113104298
ENSE00003612183	113119362	113119443
ENSE00003617590	113135398	113135761
ENSE00003652744	113121509	113121638
ENSE00003673435	113128065	113128178
ENSE00003682337	113119128	113119259
ENSE00003690170	113117073	113117161

Expression profiles

Bgee: expression breadth ubiquitous, 192 present calls, max score 95.09.

FANTOM5 (CAGE): breadth broad, TPM avg 2.3924 / max 143.5928, expressed in 449 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
133346	2.1599	433
133347	0.1795	80
133348	0.0531	34

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	95.09	gold quality
cervix squamous epithelium	UBERON:0006922	94.08	silver quality
esophagus mucosa	UBERON:0002469	92.45	gold quality
metanephros cortex	UBERON:0010533	92.22	gold quality
parotid gland	UBERON:0001831	92.12	gold quality
endothelial cell	CL:0000115	90.58	gold quality
saliva-secreting gland	UBERON:0001044	90.26	gold quality
right adrenal gland cortex	UBERON:0035827	89.56	gold quality
minor salivary gland	UBERON:0001830	89.47	gold quality
tongue squamous epithelium	UBERON:0006919	89.42	silver quality
cervix epithelium	UBERON:0004801	89.31	silver quality
Ammon’s horn	UBERON:0001954	89.14	gold quality
Brodmann (1909) area 9	UBERON:0013540	89.03	gold quality
mouth mucosa	UBERON:0003729	89.00	gold quality
right adrenal gland	UBERON:0001233	88.43	gold quality
left lobe of thyroid gland	UBERON:0001120	88.36	gold quality
right frontal lobe	UBERON:0002810	88.22	gold quality
right lobe of thyroid gland	UBERON:0001119	88.17	gold quality
adrenal tissue	UBERON:0018303	88.13	gold quality
amygdala	UBERON:0001876	88.02	gold quality
prefrontal cortex	UBERON:0000451	87.80	gold quality
cingulate cortex	UBERON:0003027	87.73	gold quality
anterior cingulate cortex	UBERON:0009835	87.73	gold quality
skin of leg	UBERON:0001511	87.69	gold quality
left adrenal gland cortex	UBERON:0035825	87.67	gold quality
adrenal cortex	UBERON:0001235	87.61	gold quality
left adrenal gland	UBERON:0001234	87.54	gold quality
thyroid gland	UBERON:0002046	87.34	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	86.71	gold quality
frontal cortex	UBERON:0001870	86.36	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-MTAB-6386	no	22.54
E-GEOD-110499	no	9.86
E-ANND-3	no	5.33

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

35 targeting RASAL1, 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-4282	99.99	75.36	6408
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-570-3P	99.96	72.41	4910
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-377-5P	99.70	65.28	712
HSA-MIR-6086	99.70	65.38	699
HSA-MIR-1283	99.69	72.42	3009
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-520F-5P	99.34	70.40	1632
HSA-MIR-4667-3P	99.26	65.45	1608
HSA-MIR-196A-3P	99.19	67.34	1204
HSA-MIR-140-3P	99.04	67.69	1324
HSA-MIR-1294	98.91	69.26	1030
HSA-MIR-9986	98.91	69.28	1024
HSA-MIR-519A-2-5P	98.78	71.74	1401
HSA-MIR-520B-5P	98.78	71.74	1401
HSA-MIR-655-5P	98.74	65.93	888
HSA-MIR-6804-3P	98.72	64.82	852
HSA-MIR-198	98.70	67.32	920
HSA-MIR-374B-3P	98.63	68.24	1360
HSA-MIR-378B	98.43	65.36	573
HSA-MIR-4684-5P	98.29	67.99	1650
HSA-MIR-6732-3P	98.17	67.52	802
HSA-MIR-3198	97.84	65.64	579
HSA-MIR-4309	97.84	65.45	588
HSA-MIR-1289	97.46	65.37	655
HSA-MIR-6859-3P	97.26	64.69	428
HSA-MIR-509-3-5P	97.21	67.74	1517

Literature-anchored findings (GeneRIF, showing 23)

• Galpha and Gbeta gamma require distinct Src-dependent pathways for its activation (PMID:12221082)
• RASAL preservs of Ca2+ frequency information (PMID:16009725)
• RASAL constitutes a tumor suppressor gene and therefore further emphasized the importance of Ca(2+) in the regulation of Ras signaling and has established that deregulation of this pathway is an important step in Ras-mediated tumorigenesis (PMID:17640920)
• Decreased expression of the RAS-GTPase activating protein RASAL1 is associated with colorectal tumor progression. (PMID:18992247)
• Reduced expression of RAS protein activator like-1 is associated with gastric cancer. (PMID:20473946)
• decreased RASAL1 expression is a characteristic of gastric cancer and regulated by epigenetic mechanisms (PMID:22825043)
• Ras GTPase activating (RasGAP) activity of the dual specificity GAP protein Rasal requires colocalization and C2 domain binding to lipid membranes. (PMID:23251034)
• Hypermethylations of RASAL1 and KLOTHO is associated with renal dysfunction in a Chinese population environmentally exposed to cadmium (PMID:23665422)
• We identified RASAL1 as a major tumor suppressor gene that is frequently inactivated by hypermethylation and mutations, providing a new alternative genetic background for thyroid cancer, particularly FTC and ATC. (PMID:24136889)
• Promoter hypermethylation of the RASAL1 gene was detected in MKN-28, SGC-790l and BGC-823 cancer cells. (PMID:24377515)
• It is a tumor suppressor gene which influences the proliferation and invasion of gastric cancer by regulating RAS/ERK signaling pathway. (PMID:24531877)
• Germline RASAL1 alterations are uncommon in patients with Cowden syndrome but may not be infrequent in patients with apparently sporadic follicular-variant papillary thyroid cancer. (PMID:24712574)
• large chromosome 12 rearrangement, spanning MDM2 and RASAL1, is the first recurrent molecular abnormality to be reported in juvenile ossifying fibroma (PMID:24925056)
• Transcriptional suppression of RASAL1 through aberrant promoter methylation contributes to endothelial-mesenchymal transition and ultimately to progression of cardiac fibrosis. (PMID:25616414)
• Loss of RASAL1 expression is associated with gastric carcinogenesis. (PMID:25735335)
• These findings suggest that Ebp1 suppressed thyroid cancer cell lines by upregulating RASRAL expression. (PMID:26008146)
• Report a new subtype of high-grade mandibular osteosarcoma with RASAL1/MDM2 amplification. (PMID:26997440)
• HIF1alpha and transforming growth factor (TGF)/SMAD signalling pathways synergistically regulate hypoxia-induced endothelial-to-mesenchymal transition through both DNMT3a-mediated hypermethylation of RASAL1 promoter and direct SNAIL induction. (PMID:27012941)
• DNA methylation, TGFbeta1 and RASAL1 appear to have an interacting relationship. (PMID:27124111)
• RASAL1 role in in sorafenib-resistance of liver cancer cells (PMID:27878301)
• our study showed significantly longer overall survival times for oesophagogastric adenocarcinoma patients without RASAL1 expression (PMID:28011578)
• Domain topology of human Rasal (PMID:28885980)
• Hypermethylated RASAL1’s promotive role in chemoresistance and tumorigenesis of choriocarcinoma was regulated by TET2 but not DNMTs. (PMID:39118077)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:dkeyp-72a4.1	ENSDARG00000093985
mus_musculus	Rasal1	ENSMUSG00000029602
rattus_norvegicus	Rasal1	ENSRNOG00000001374
drosophila_melanogaster	RasGAP1	FBGN0004390
drosophila_melanogaster	raskol	FBGN0261570
caenorhabditis_elegans		WBGENE00001515
caenorhabditis_elegans		WBGENE00001516

Paralogs (10): RASAL2 (ENSG00000075391), RASAL3 (ENSG00000105122), RASA4 (ENSG00000105808), DAB2IP (ENSG00000136848), RASA1 (ENSG00000145715), RASA2 (ENSG00000155903), RASA4B (ENSG00000170667), RASA3 (ENSG00000185989), NF1 (ENSG00000196712), SYNGAP1 (ENSG00000197283)

Protein

Protein identifiers

RasGAP-activating-like protein 1 — O95294 (reviewed: O95294)

Alternative names: RAS protein activator like 1, Ras GTPase-activating-like protein

All UniProt accessions (1): O95294

UniProt curated annotations — full annotation on UniProt →

Function. Probable inhibitory regulator of the Ras-cyclic AMP pathway. Plays a role in dendrite formation by melanocytes.

Tissue specificity. Highly expressed in thyroid and adrenal medulla, lower expression in brain, spinal cord and trachea. Expressed in melanocytes.

Isoforms (4)

UniProt ID	Names	Canonical?
O95294-1	1	yes
O95294-2	2
O95294-3	3
O95294-4	4

RefSeq proteins (13): NP_001180449, NP_001180450, NP_001288131, NP_001381010, NP_001381011, NP_001381012, NP_001381013, NP_001381014, NP_001381015, NP_001381016, NP_001381017, NP_001381018, NP_004649 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000008	C2_dom	Domain
IPR001562	Znf_Btk_motif	Conserved_site
IPR001849	PH_domain	Domain
IPR001936	RasGAP_dom	Domain
IPR008936	Rho_GTPase_activation_prot	Homologous_superfamily
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR023152	RasGAP_CS	Conserved_site
IPR035892	C2_domain_sf	Homologous_superfamily
IPR037776	RASAL_RasGAP	Domain
IPR039360	Ras_GTPase	Family

Pfam: PF00168, PF00169, PF00616, PF00779

UniProt features (36 total): binding site 20, domain 4, splice variant 3, sequence variant 3, sequence conflict 3, chain 1, site 1, zinc finger region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O95294-F1	88.64	0.64

Functional residue map

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

Catalytic / active sites (1): 342 (arginine finger; crucial for gtp hydrolysis by stabilizing the transition state)

Ligand- & substrate-binding residues (20): 74; 76; 76; 82; 149; 149; 155; 202; 202; 204; 204; 210 …

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-5658442	Regulation of RAS by GAPs

MSigDB gene sets: 147 (showing top): GOBP_REGULATION_OF_CELL_MORPHOGENESIS, GOBP_NEURON_PROJECTION_EXTENSION, RORA1_01, GOBP_REGULATION_OF_DEVELOPMENTAL_GROWTH, GCANCTGNY_MYOD_Q6, GOBP_GROWTH, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_NEUROGENESIS, GOBP_NEGATIVE_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_RESPONSE_TO_METAL_ION, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_POSITIVE_REGULATION_OF_CELL_GROWTH, GOBP_RAS_PROTEIN_SIGNAL_TRANSDUCTION, PPAR_DR1_Q2, GOBP_POSITIVE_REGULATION_OF_DEVELOPMENTAL_GROWTH

GO Biological Process (8): signal transduction (GO:0007165), cell differentiation (GO:0030154), intracellular signal transduction (GO:0035556), negative regulation of Ras protein signal transduction (GO:0046580), cellular response to calcium ion (GO:0071277), regulation of intracellular signal transduction (GO:1902531), positive regulation of dendrite extension (GO:1903861), regulation of GTPase activity (GO:0043087)

GO Molecular Function (4): GTPase activator activity (GO:0005096), phospholipid binding (GO:0005543), zinc ion binding (GO:0008270), metal ion binding (GO:0046872)

GO Cellular Component (2): cytosol (GO:0005829), plasma membrane (GO:0005886)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
RAF/MAP kinase cascade	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
GTPase activity	2
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
cellular developmental process	1
intracellular anatomical structure	1
signal transduction	1
Ras protein signal transduction	1
regulation of Ras protein signal transduction	1
negative regulation of small GTPase mediated signal transduction	1
response to calcium ion	1
cellular response to metal ion	1
regulation of signal transduction	1
intracellular signal transduction	1
positive regulation of cell growth	1
positive regulation of developmental growth	1
dendrite extension	1
regulation of dendrite extension	1
regulation of hydrolase activity	1
enzyme activator activity	1
GTPase regulator activity	1
lipid binding	1
transition metal ion binding	1
cation binding	1
cytoplasm	1
cellular anatomical structure	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

656 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RASAL1	RASGRP1	O95267	657
RASAL1	DNMT1	P26358	627
RASAL1	PLEK2	Q9NYT0	586
RASAL1	PLEK	P08567	583
RASAL1	ACTA2	P03996	548
RASAL1	RABIF	P47224	507
RASAL1	COL1A1	P02452	480
RASAL1	PITX1	P78337	459
RASAL1	TET3	O43151	453
RASAL1	RACGAP1	Q9H0H5	451
RASAL1	AMZ1	Q400G9	445
RASAL1	RPH3A	Q9Y2J0	422
RASAL1	NKAIN4	Q8IVV8	418
RASAL1	CCDC57	Q2TAC2	406
RASAL1	FASTKD3	Q14CZ7	404
RASAL1	DUOX1	Q9NRD9	404

IntAct

2 interactions, top by confidence:

A	B	Type	Score
SH2D3A	A2ML1	psi-mi:“MI:0914”(association)	0.350

BioGRID (9): RASAL1 (Co-fractionation), RASAL1 (Affinity Capture-MS), RASAL1 (Affinity Capture-RNA), RASAL1 (Cross-Linking-MS (XL-MS)), RASAL1 (Affinity Capture-MS), RASAL1 (Affinity Capture-RNA), RASAL1 (Co-fractionation), RASAL1 (Co-fractionation), RASAL1 (Co-fractionation)

ESM2 similar proteins: A0A0B4J1F4, A0A0G2JXN2, A2AWP8, A2RRH5, C9J798, O43374, O70277, O95294, P04629, P59926, Q0GA42, Q13368, Q14318, Q16512, Q29RM4, Q2HY40, Q2T9P3, Q2TBA3, Q5BIM1, Q5M7W1, Q5R5M3, Q5R811, Q5T7P8, Q5XIS9, Q62746, Q6PFQ7, Q6PFY8, Q7TNM2, Q7TP90, Q7Z4K8, Q8BG60, Q8BHT7, Q8BQC3, Q8C6N3, Q8CIW5, Q8IZ69, Q8NCT1, Q920N2, Q92546, Q925B4

Diamond homologs: A0FGR8, A0FGR9, A0JJX5, A1ZBD6, A2X479, A6QQP7, A8KBH6, B2RUP2, D4ABL6, E9PV86, K8FE10, O00445, O75923, O94812, O95294, P04409, P05126, P05128, P05129, P05130, P05696, P05771, P05772, P10102, P10829, P13677, P17252, P20444, P21521, P24505, P27715, P34693, P41885, P46097, P46935, P47708, P47709, P47861, P63318, P63319

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	141
Likely benign	16
Benign	7

Top pathogenic / likely-pathogenic (0)

SpliceAI

3992 predictions. Top by Δscore:

Variant	Effect	Δscore
12:113096704:T:TA	acceptor_gain	1.0000
12:113096710:CCCA:C	acceptor_loss	1.0000
12:113096712:CA:C	acceptor_loss	1.0000
12:113096713:A:AC	acceptor_loss	1.0000
12:113096714:GGT:G	acceptor_gain	1.0000
12:113100066:CCC:C	acceptor_gain	1.0000
12:113100067:CC:C	acceptor_gain	1.0000
12:113100067:CCC:C	acceptor_gain	1.0000
12:113100068:CC:C	acceptor_gain	1.0000
12:113100068:CCTAG:C	acceptor_loss	1.0000
12:113100069:C:A	acceptor_loss	1.0000
12:113100069:C:CC	acceptor_gain	1.0000
12:113100626:ACC:A	donor_loss	1.0000
12:113100627:C:CG	donor_loss	1.0000
12:113100676:TCAGC:T	acceptor_gain	1.0000
12:113100677:CAGC:C	acceptor_gain	1.0000
12:113100677:CAGCC:C	acceptor_gain	1.0000
12:113100678:AGC:A	acceptor_gain	1.0000
12:113100678:AGCC:A	acceptor_loss	1.0000
12:113100679:GC:G	acceptor_gain	1.0000
12:113100679:GCCT:G	acceptor_loss	1.0000
12:113100680:CC:C	acceptor_gain	1.0000
12:113100681:C:CA	acceptor_loss	1.0000
12:113100681:C:CC	acceptor_gain	1.0000
12:113100682:T:A	acceptor_loss	1.0000
12:113100688:G:C	acceptor_gain	1.0000
12:113100688:G:GC	acceptor_gain	1.0000
12:113102007:CGG:C	acceptor_gain	1.0000
12:113102010:C:CC	acceptor_gain	1.0000
12:113103956:AG:A	donor_gain	1.0000

AlphaMissense

5221 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:113128142:C:A	W53C	0.998
12:113128142:C:G	W53C	0.998
12:113128144:A:G	W53R	0.998
12:113128144:A:T	W53R	0.998
12:113130922:A:C	Y29D	0.997
12:113108167:G:T	A477D	0.996
12:113135423:C:G	G14R	0.996
12:113127856:C:T	G85D	0.995
12:113128086:A:T	V72E	0.995
12:113128143:C:G	W53S	0.995
12:113128176:G:A	T42I	0.995
12:113130917:G:C	C30W	0.995
12:113130919:A:G	C30R	0.995
12:113104060:A:G	W663R	0.994
12:113104060:A:T	W663R	0.994
12:113108085:C:A	K504N	0.994
12:113108085:C:G	K504N	0.994
12:113108145:A:C	F484L	0.994
12:113108145:A:T	F484L	0.994
12:113108147:A:G	F484L	0.994
12:113119165:T:G	D202A	0.994
12:113119230:C:A	W180C	0.994
12:113119230:C:G	W180C	0.994
12:113119232:A:G	W180R	0.994
12:113119232:A:T	W180R	0.994
12:113121617:A:G	L107S	0.994
12:113127856:C:A	G85V	0.994
12:113127857:C:G	G85R	0.994
12:113135422:C:T	G14D	0.993
12:113119405:G:T	P156Q	0.992

dbSNP variants (sampled 300 via entrez): RS1000058377 (12:113099108 C>A,T), RS1000211869 (12:113116376 A>G), RS1000216578 (12:113132857 C>T), RS1000363628 (12:113120348 C>A), RS1000422877 (12:113126982 T>A), RS1000518851 (12:113129488 G>A,C), RS1000539383 (12:113122875 A>G), RS1000630616 (12:113108604 A>T), RS1000661980 (12:113108277 G>A), RS1000936383 (12:113100988 A>G), RS1000978819 (12:113106104 C>CCT), RS1001058525 (12:113112965 A>ATAAATAAC), RS1001116712 (12:113137529 G>A), RS1001183895 (12:113109831 C>T), RS1001190493 (12:113126877 A>G)

Disease associations

OMIM: gene MIM:604118 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
breast cancer	Limited	Autosomal dominant

Mondo (1): breast cancer (MONDO:0007254)

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST001523_11	Visceral adipose tissue adjusted for BMI	1.000000e-06
GCST005951_2	Body mass index	9.000000e-09
GCST012490_191	Femur bone mineral density x serum urate levels interaction	4.000000e-08

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0004531	urate measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases methylation, affects reaction, increases expression	4
Cadmium	increases abundance, affects methylation, decreases expression	2
Aflatoxin B1	increases expression, increases methylation	2
bisphenol F	affects cotreatment, increases expression	1
sodium arsenite	increases expression	1
3,4,5,3’,4’-pentachlorobiphenyl	increases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment, decreases expression	1
pentanal	increases expression	1
nutlin 3	affects cotreatment, increases expression	1
jinfukang	affects cotreatment, increases expression	1
Zoledronic Acid	decreases expression	1
Arsenic	affects methylation	1
Camptothecin	increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Dactinomycin	affects cotreatment, increases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Diethylhexyl Phthalate	decreases expression	1
Diethylstilbestrol	decreases expression	1
Estradiol	affects cotreatment, decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Lipopolysaccharides	affects response to substance, increases expression, affects cotreatment, decreases expression	1
Methapyrilene	increases methylation	1
Silicon Dioxide	decreases expression	1
Tetrachlorodibenzodioxin	increases expression	1
Tobacco Smoke Pollution	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00014638	PHASE4	COMPLETED	Letrozole in Treating Postmenopausal Women With Metastatic Breast Cancer
NCT00022386	PHASE4	COMPLETED	Epoetin Alfa in Treating Chemotherapy-Related Anemia in Women With Stage I, Stage II, or Stage III Breast Cancer
NCT00029224	PHASE4	COMPLETED	Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00030758	PHASE4	UNKNOWN	Filgrastim or Pegfilgrastim in Preventing Neutropenia in Women Receiving Chemotherapy Following Surgery for Breast Cancer
NCT00082277	PHASE4	COMPLETED	Anastrozole Biphosphonate Study in Postmenopausal Women With Hormone-Receptor-Positive Early Breast Cancer
NCT00087620	PHASE4	TERMINATED	A Study of Capecitabine In Combination With Docetaxel vs Capecitabine Followed by Docetaxel As First-Line Treatment For Metastatic Breast Cancer
NCT00121836	PHASE4	COMPLETED	A Study of Xeloda (Capecitabine) in Women With HER2-Negative Metastatic Breast Cancer
NCT00126360	PHASE4	UNKNOWN	STARS Breast Trial (Study of Anastrozole and Radiotherapy Sequencing Pilot)
NCT00127933	PHASE4	COMPLETED	XeNA Study - A Study of Xeloda (Capecitabine) in Patients With Invasive Breast Cancer
NCT00128297	PHASE4	COMPLETED	Pamidronate Administration in Breast Cancer Patients With Bone Metastases
NCT00129597	PHASE4	UNKNOWN	Effect of Ketalar to Prevent Postoperative Chronic Pain After Mastectomy
NCT00131170	PHASE4	COMPLETED	Paravertebral Block for Breast Surgery
NCT00156039	PHASE4	COMPLETED	Randomized Trial of Follow-up Strategies in Breast Cancer
NCT00160901	PHASE4	COMPLETED	Complementary Therapies for the Reduction of Side Effects During Chemotherapy for Breast Cancer
NCT00171847	PHASE4	TERMINATED	Study of the Efficacy and Safety of Letrozole Combined With Trastuzumab in Patients With Metastatic Breast Cancer
NCT00176046	PHASE4	COMPLETED	Mistletoe Extract in Early or Advanced Breast Cancer, A Feasibility Study
NCT00190697	PHASE4	COMPLETED	A Study of LY353381 (Arzoxifene) for Patients Who Benefitted From This Drug in Other Oncology Trials and Wished to Continue Treatment
NCT00234195	PHASE4	COMPLETED	Wellbutrin XL, Major Depressive Disorder and Breast Cancer
NCT00237133	PHASE4	COMPLETED	Treatment of Locally Advanced Breast Cancer With Letrozole in Postmenopausal Women
NCT00237224	PHASE4	COMPLETED	Open Label Study of Postmenopausal Women With ER and /or PgR Positive Breast Cancer Treated With Letrozole
NCT00241046	PHASE4	TERMINATED	Letrozole in the Treatment of 1st and 2nd Line Hormone Receptor Positive Breast Cancer: Pre-therapeutic Risk Assessment
NCT00277160	PHASE4	COMPLETED	A Study of Primary Prophylaxis With Neulasta (Pegfilgrastim) Versus Secondary Prophylaxis After Chemotherapy in Elderly Subjects (>/= 65 Years Old) With Cancer
NCT00323479	PHASE4	COMPLETED	Arthralgia During Anastrozole Therapy for Breast Cancer
NCT00334139	PHASE4	COMPLETED	Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer
NCT00356148	PHASE4	COMPLETED	The Efficacy of Prophylactic Antibiotic Administration During Breast Cancer Surgery in Overweight Patients.
NCT00372476	PHASE4	COMPLETED	Efficacy and Safety of Imatinib and Vinorelbine in Patients With Advanced Breast Cancer
NCT00413491	PHASE4	UNKNOWN	National Screening in Denmark With MR Versus Mammography and Ultrasound of Women With BRCA1 or BRCA2 Mutations
NCT00484614	PHASE4	UNKNOWN	Study the Role of Positron Emission Mammography in Pre-surgical Planning for Breast Cancer
NCT00485953	PHASE4	COMPLETED	Effect of Bisphosphonate on Bone Loss in Postmenopausal Women With Breast Cancer Initiating Aromatase Inhibitor Therapy
NCT00496678	PHASE4	COMPLETED	Trial of Patient Navigation-Activation
NCT00531973	PHASE4	UNKNOWN	A Study of Liposomal Doxorubicin in Women With Breast Cancer Exploiting Tissue Doppler Imaging
NCT00537771	PHASE4	COMPLETED	Liver Safety Under Upfront Arimidex vs Tamoxifen
NCT00544986	PHASE4	COMPLETED	A Prospective,Open-label Study of Anastrozole in Post-menopausal Women With Hormone Sensitive Advanced Breast Cancer
NCT00613275	PHASE4	COMPLETED	Patient Navigation in the Safety Net:CONNECTeDD
NCT00638599	PHASE4	COMPLETED	Comparison of Laryngeal Mask Airway (LMA®) and Tracheal Tube in Modified Radical Mastectomy on Breast Cancer
NCT00647075	PHASE4	UNKNOWN	Yunzhi as Dietary Supplement in Breast Cancer
NCT00688909	PHASE4	COMPLETED	Rheumatological Evaluation of Anastrozole and Letrozole as Adjuvant Treatment in Post-menopausal Women With Breast Cancer
NCT00699101	PHASE4	TERMINATED	Using the Conture® Multi-Lumen Balloon to Deliver Accelerated Partial Breast Brachytherapy
NCT00742222	PHASE4	COMPLETED	Electronic Xoft Intersociety Brachytherapy Trial: Electronic Brachytherapy (EBT) For Treatment of Early Stage Breast Cancer
NCT00754767	PHASE4	TERMINATED	L-Carnitine L-Tartrate in Preventing Peripheral Neuropathy Caused By Chemotherapy in Women With Metastatic Breast Cancer