MRPS30

Summary

MRPS30 (mitochondrial ribosomal protein S30, HGNC:8769) is a protein-coding gene on chromosome 5p12, encoding Large ribosomal subunit protein mL65 (Q9NP92). It is a selective cancer dependency (DepMap: 32.9% of cell lines).

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that is similar to the chicken pro-apoptotic protein p52. Transcript variants using alternative promoters or polyA sites have been mentioned in the literature but the complete description of these sequences is not available.

Source: NCBI Gene 10884 — RefSeq curated summary.

At a glance

• GWAS associations: 26
• Clinical variants (ClinVar): 85 total
• Cancer dependency (DepMap): dependent in 32.9% of screened cell lines
• MANE Select transcript: NM_016640

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8769
Approved symbol	MRPS30
Name	mitochondrial ribosomal protein S30
Location	5p12
Locus type	gene with protein product
Status	Approved
Aliases	PAP, mL65
Ensembl gene	ENSG00000112996
Ensembl biotype	protein_coding
OMIM	611991
Entrez	10884

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 2 protein_coding_CDS_not_defined, 2 protein_coding, 1 retained_intron

ENST00000230914, ENST00000507110, ENST00000508129, ENST00000515647, ENST00000872079

RefSeq mRNA: 1 — MANE Select: NM_016640 NM_016640

CCDS: CCDS3951

Canonical transcript exons

ENST00000507110 — 5 exons

Exon	Start	End
ENSE00000821249	44808947	44809563
ENSE00002047647	44814913	44815514
ENSE00003462143	44811009	44811154
ENSE00003513322	44813106	44813282
ENSE00003560269	44811915	44812020

Expression profiles

Bgee: expression breadth ubiquitous, 285 present calls, max score 96.27.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 41.9412 / max 316.3715, expressed in 1818 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
56346	40.4999	1816
56347	0.3683	181
56351	0.3323	134
56348	0.2704	121
56350	0.2016	82
203542	0.1219	36
56349	0.1054	44
56353	0.0261	9
56352	0.0153	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	96.27	gold quality
endothelial cell	CL:0000115	94.97	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	94.02	gold quality
Brodmann (1909) area 23	UBERON:0013554	93.81	gold quality
middle temporal gyrus	UBERON:0002771	93.66	gold quality
hindlimb stylopod muscle	UBERON:0004252	93.59	gold quality
gastrocnemius	UBERON:0001388	92.40	gold quality
ganglionic eminence	UBERON:0004023	92.34	gold quality
muscle of leg	UBERON:0001383	92.32	gold quality
rectum	UBERON:0001052	91.98	gold quality
cortical plate	UBERON:0005343	91.65	gold quality
ventricular zone	UBERON:0003053	91.59	gold quality
muscle organ	UBERON:0001630	91.35	gold quality
skeletal muscle organ	UBERON:0014892	91.35	gold quality
biceps brachii	UBERON:0001507	91.33	gold quality
heart left ventricle	UBERON:0002084	91.29	gold quality
cardiac ventricle	UBERON:0002082	91.11	gold quality
primary visual cortex	UBERON:0002436	90.84	gold quality
calcaneal tendon	UBERON:0003701	90.83	gold quality
islet of Langerhans	UBERON:0000006	90.36	gold quality
occipital lobe	UBERON:0002021	89.96	gold quality
prefrontal cortex	UBERON:0000451	89.89	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	89.81	gold quality
mucosa of transverse colon	UBERON:0004991	89.75	gold quality
heart	UBERON:0000948	89.62	gold quality
skin of abdomen	UBERON:0001416	89.54	gold quality
right atrium auricular region	UBERON:0006631	89.37	gold quality
vastus lateralis	UBERON:0001379	89.03	gold quality
leukocyte	CL:0000738	88.83	gold quality
apex of heart	UBERON:0002098	88.81	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.06
E-HCAD-29	no	91.55

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

31 targeting MRPS30, 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-188-3P	100.00	68.76	1240
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-544A	99.84	68.66	1965
HSA-MIR-548M	99.70	68.87	1749
HSA-MIR-545-5P	99.66	70.18	2308
HSA-MIR-4276	99.56	67.66	2514
HSA-MIR-105-5P	99.54	69.24	2060
HSA-MIR-7853-5P	99.54	69.30	2055
HSA-MIR-7159-5P	99.53	72.12	2472
HSA-MIR-20A-3P	99.44	69.10	1575
HSA-MIR-6513-5P	99.43	67.81	1071
HSA-MIR-935	98.82	69.36	1072
HSA-MIR-4703-5P	98.53	70.13	1645
HSA-MIR-3942-5P	98.52	69.51	1517
HSA-MIR-4766-3P	98.48	67.94	1347
HSA-MIR-633	98.35	69.45	1167
HSA-MIR-4468	98.01	66.85	1187
HSA-MIR-6529-5P	97.85	66.47	673
HSA-MIR-8055	97.62	66.09	1023
HSA-MIR-563	96.26	66.13	450
HSA-MIR-380-5P	95.68	67.32	512

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 32.9% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 5)

• The risk-associated allele of rs7716600 in the 5p12 ER-positive susceptibility locus was associated with elevated expression of the nearby gene MRPS30 and decreased MRPS30 promoter methylation exclusively in ER-positive tumors. eQTL and in vitro experiments suggest this allele affects MRPS30 expression in estrogen-responsive tumor cells after tumor initiation by a mechanism affecting chromatin availability. (PMID:24388359)
• data suggest the 5p12 risk allele affects MRPS30 expression in estrogen-responsive tumor cells after tumor initiation by a mechanism affecting chromatin availability. (PMID:24388359)
• Among the 10 SNPs studied, rs10941679 in MRPS30 showed significant association with breast cancer risk when differences between the case and control groups in this Han Chinese population were compared. (PMID:24528085)
• data suggest that the strongest signal of association at 5p12 is mediated through coordinated activation of FGF10 and MRPS30, two candidate genes for breast cancer pathogenesis (PMID:27640304)
• In silico identification and in vitro evaluation of MRPS30-DT lncRNA and MRPS30 gene expression in breast cancer. (PMID:38886335)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	mrps30	ENSDARG00000104111
mus_musculus	Mrps30	ENSMUSG00000021731
rattus_norvegicus	Mrps30	ENSRNOG00000012136
drosophila_melanogaster	mRpS30	FBGN0030692
caenorhabditis_elegans	mrps-30	WBGENE00044321

Protein

Protein identifiers

Large ribosomal subunit protein mL65 — Q9NP92 (reviewed: Q9NP92)

Alternative names: 39S ribosomal protein S30, mitochondrial, Large ribosomal subunit protein mS30, Programmed cell death protein 9

All UniProt accessions (1): Q9NP92

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Component of the mitochondrial large ribosomal subunit (mt-LSU). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins. mL65 forms a heterodimer with mL37.

Subcellular location. Mitochondrion.

Tissue specificity. Heart, skeletal muscle, kidney and liver. Lower expression in placenta and peripheral blood leukocytes.

Similarity. Belongs to the mitochondrion-specific ribosomal protein mL65 family.

RefSeq proteins (1): NP_057724* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR010793	Ribosomal_mL37/mL65	Family
IPR039982	Ribosomal_mL65	Family

Pfam: PF07147

UniProt features (35 total): strand 16, helix 12, turn 3, sequence variant 2, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

85 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
7OF0	ELECTRON MICROSCOPY	2.2
7QI4	ELECTRON MICROSCOPY	2.21
8RRI	ELECTRON MICROSCOPY	2.4
8QU5	ELECTRON MICROSCOPY	2.42
9OLF	ELECTRON MICROSCOPY	2.46
7OF7	ELECTRON MICROSCOPY	2.5
7PO4	ELECTRON MICROSCOPY	2.56
6ZM6	ELECTRON MICROSCOPY	2.59
7O9M	ELECTRON MICROSCOPY	2.6
7OF6	ELECTRON MICROSCOPY	2.6
9CN3	ELECTRON MICROSCOPY	2.62
7QI5	ELECTRON MICROSCOPY	2.63
7OF2	ELECTRON MICROSCOPY	2.7
7OF3	ELECTRON MICROSCOPY	2.7
7OF4	ELECTRON MICROSCOPY	2.7
9PR4	ELECTRON MICROSCOPY	2.77
9PRA	ELECTRON MICROSCOPY	2.83
8ANY	ELECTRON MICROSCOPY	2.85
6ZM5	ELECTRON MICROSCOPY	2.89
7QH7	ELECTRON MICROSCOPY	2.89
7ODR	ELECTRON MICROSCOPY	2.9
7OF5	ELECTRON MICROSCOPY	2.9
8K2A	ELECTRON MICROSCOPY	2.9
8OIT	ELECTRON MICROSCOPY	2.9
9PGL	ELECTRON MICROSCOPY	2.9
9PGF	ELECTRON MICROSCOPY	2.93
6VMI	ELECTRON MICROSCOPY	2.96
6VLZ	ELECTRON MICROSCOPY	2.97
7QI6	ELECTRON MICROSCOPY	2.98
9PSM	ELECTRON MICROSCOPY	2.98

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NP92-F1	88.20	0.81

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-5368286	Mitochondrial translation initiation
R-HSA-5389840	Mitochondrial translation elongation
R-HSA-5419276	Mitochondrial translation termination
R-HSA-9937383	Mitochondrial ribosome-associated quality control
R-HSA-392499	Metabolism of proteins
R-HSA-5368287	Mitochondrial translation
R-HSA-72766	Translation

MSigDB gene sets: 131 (showing top): RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_MITOCHONDRIAL_TRANSLATION, GOBP_TRANSLATION, WEI_MYCN_TARGETS_WITH_E_BOX, SMID_BREAST_CANCER_LUMINAL_B_UP, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GOCC_MITOCHONDRIAL_ENVELOPE, WONG_MITOCHONDRIA_GENE_MODULE, RIGGINS_TAMOXIFEN_RESISTANCE_DN, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, OSMAN_BLADDER_CANCER_DN, GOCC_LARGE_RIBOSOMAL_SUBUNIT, GOCC_RIBOSOME, GOCC_ORGANELLAR_RIBOSOME

GO Biological Process (3): apoptotic process (GO:0006915), mitochondrial translation (GO:0032543), translation (GO:0006412)

GO Molecular Function (2): RNA binding (GO:0003723), structural constituent of ribosome (GO:0003735)

GO Cellular Component (5): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial large ribosomal subunit (GO:0005762), ribosome (GO:0005840), ribonucleoprotein complex (GO:1990904)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Mitochondrial translation	4
Translation	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
mitochondrion	1
translation	1
mitochondrial gene expression	1
peptidyltransferase activity	1
translational initiation	1
translational elongation	1
translational termination	1
macromolecule biosynthetic process	1
protein metabolic process	1
protein biosynthetic process	1
nucleic acid binding	1
structural molecule activity	1
ribosome	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
organellar large ribosomal subunit	1
mitochondrial ribosome	1
mitochondrial protein-containing complex	1
intracellular membraneless organelle	1
protein-containing complex	1

Protein interactions and networks

STRING

1552 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MRPS30	DAP3	P51398	748
MRPS30	MRPS27	Q92552	690
MRPS30	MRPL55	Q7Z7F7	644
MRPS30	MRPL52	Q86TS9	638
MRPS30	MRPL41	Q8IXM3	635
MRPS30	MRPL37	Q9BZE1	634
MRPS30	MRPL11	Q9Y3B7	611
MRPS30	TOX3	O15405	609
MRPS30	MRPS9	P82933	599
MRPS30	RPL26	P61254	556
MRPS30	RPL6	Q02878	539
MRPS30	MRPL20	Q9BYC9	531
MRPS30	RPL5	P46777	528
MRPS30	MRPL12	P52815	522
MRPS30	LSP1	P33241	505

IntAct

131 interactions, top by confidence:

A	B	Type	Score
MRPL37	HSPD1	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
MRPS30	GTPBP10	psi-mi:“MI:0914”(association)	0.640
IGF2BP1	IGF2BP3	psi-mi:“MI:0914”(association)	0.640
HNRNPD	HNRNPDL	psi-mi:“MI:0914”(association)	0.560
NP	KPNA6	psi-mi:“MI:0914”(association)	0.550
MRPL50	GTPBP10	psi-mi:“MI:0914”(association)	0.530
MRPL10	ZZEF1	psi-mi:“MI:0914”(association)	0.530
MRPL42	GATC	psi-mi:“MI:0914”(association)	0.530
MRPL28	MRPL3	psi-mi:“MI:0914”(association)	0.530
MRPL2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
THAP3	CASC3	psi-mi:“MI:0914”(association)	0.530
H2AC20	PPM1G	psi-mi:“MI:0914”(association)	0.530
MRPL13	GTPBP10	psi-mi:“MI:0914”(association)	0.530
MRPL27	MRPL33	psi-mi:“MI:0914”(association)	0.530
NDUFAB1	MIEF1	psi-mi:“MI:0915”(physical association)	0.490
SIRT4	VWA8	psi-mi:“MI:0914”(association)	0.350
Dtl	C1orf226	psi-mi:“MI:0914”(association)	0.350
VPS26B	KIF1B	psi-mi:“MI:0914”(association)	0.350
Katna1	RIMS1	psi-mi:“MI:0914”(association)	0.350
MRPL50	MRPL43	psi-mi:“MI:0914”(association)	0.350
MRPL9	MRPL43	psi-mi:“MI:0914”(association)	0.350

BioGRID (372): MRPS30 (Affinity Capture-MS), MRPS30 (Affinity Capture-MS), MRPS30 (Affinity Capture-MS), MRPS30 (Affinity Capture-MS), MRPS30 (Affinity Capture-MS), MRPS30 (Affinity Capture-MS), MRPS30 (Affinity Capture-MS), MRPS30 (Affinity Capture-MS), MRPS30 (Affinity Capture-MS), MRPL57 (Affinity Capture-MS), MRPL12 (Affinity Capture-MS), ELAC2 (Affinity Capture-MS), MRPL46 (Affinity Capture-MS), MRPL45 (Affinity Capture-MS), MRPL9 (Affinity Capture-MS)

ESM2 similar proteins: A2A9C3, A2RRP1, A4FUC0, F1PLN3, O75153, O76024, O88480, P03271, P03272, P03273, P12539, P12540, P48752, P56695, P82649, P82650, P82918, P82924, P83565, Q1T765, Q1XHY1, Q32LL9, Q5EA18, Q5R7X0, Q5SW19, Q5T011, Q5TM62, Q5U2W4, Q5ZI69, Q5ZKP2, Q6AXT0, Q6AXZ5, Q6DIK0, Q6GLY5, Q6NUV0, Q767K8, Q80UJ7, Q8BGW1, Q8QZV7, Q8VE18

Diamond homologs: P82924, Q9D0G0, Q9NP92, A4FUC0, Q5ZI69, Q6AXT0, Q921S7, Q9BZE1

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MRPS30	“form complex”	“39S mitochondrial large ribosomal subunit”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 125 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
Mitochondrial ribosome-associated quality control	33	46.0×	8e-46
Mitochondrial translation initiation	31	44.7×	9e-43
Mitochondrial translation elongation	31	44.7×	9e-43
Mitochondrial translation	28	43.8×	3e-38
Mitochondrial translation termination	31	38.7×	1e-40
Translation	32	22.6×	7e-34
Peptide chain elongation	8	11.5×	1e-05
Viral mRNA Translation	8	11.5×	1e-05

GO biological processes:

GO term	Partners	Fold	FDR
mitochondrial translation	32	49.2×	4e-44
translation	27	24.6×	6e-28
cytoplasmic translation	8	13.1×	3e-05
negative regulation of translation	7	12.1×	2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	74
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

719 predictions. Top by Δscore:

Variant	Effect	Δscore
5:44811003:T:TA	acceptor_gain	1.0000
5:44811007:A:AG	acceptor_gain	1.0000
5:44811008:G:GG	acceptor_gain	1.0000
5:44811008:G:GT	acceptor_loss	1.0000
5:44811008:GA:G	acceptor_gain	1.0000
5:44811008:GATT:G	acceptor_gain	1.0000
5:44811150:CAGAG:C	donor_gain	1.0000
5:44811151:AGAG:A	donor_gain	1.0000
5:44811152:GAG:G	donor_gain	1.0000
5:44811152:GAGG:G	donor_gain	1.0000
5:44811153:AG:A	donor_gain	1.0000
5:44811153:AGGT:A	donor_loss	1.0000
5:44811154:GG:G	donor_gain	1.0000
5:44811155:G:GG	donor_gain	1.0000
5:44811155:GTAA:G	donor_loss	1.0000
5:44811912:A:AG	acceptor_gain	1.0000
5:44811913:A:G	acceptor_gain	1.0000
5:44811914:G:GG	acceptor_gain	1.0000
5:44811914:GTTT:G	acceptor_gain	1.0000
5:44812017:GTTG:G	donor_gain	1.0000
5:44812019:TGGTA:T	donor_loss	1.0000
5:44812021:G:GG	donor_gain	1.0000
5:44812021:GTAA:G	donor_loss	1.0000
5:44812022:TAAG:T	donor_loss	1.0000
5:44813096:T:TA	acceptor_gain	1.0000
5:44813101:TTCA:T	acceptor_loss	1.0000
5:44813104:A:AC	acceptor_loss	1.0000
5:44813104:A:AG	acceptor_gain	1.0000
5:44813104:AG:A	acceptor_gain	1.0000
5:44813105:G:GA	acceptor_gain	1.0000

AlphaMissense

2854 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:44815055:T:A	N391K	0.993
5:44815055:T:G	N391K	0.993
5:44811132:G:C	R242P	0.988
5:44815003:T:C	L374P	0.988
5:44813243:A:C	S331R	0.987
5:44813245:C:A	S331R	0.987
5:44813245:C:G	S331R	0.987
5:44813270:G:C	A340P	0.985
5:44814915:T:C	F345L	0.985
5:44814917:C:A	F345L	0.985
5:44814917:C:G	F345L	0.985
5:44814951:T:C	S357P	0.984
5:44815059:T:C	C393R	0.984
5:44811129:T:C	I241T	0.983
5:44813249:T:C	F333L	0.983
5:44813251:T:A	F333L	0.983
5:44813251:T:G	F333L	0.983
5:44811035:T:A	W210R	0.982
5:44811035:T:C	W210R	0.982
5:44813148:T:C	F299S	0.981
5:44813271:C:A	A340D	0.981
5:44814957:G:C	A359P	0.981
5:44814961:T:A	V360E	0.979
5:44815007:T:A	N375K	0.977
5:44815007:T:G	N375K	0.977
5:44815001:G:C	Q373H	0.976
5:44815001:G:T	Q373H	0.976
5:44815120:T:C	F413S	0.976
5:44813253:C:A	A334D	0.975
5:44814996:T:G	Y372D	0.975

dbSNP variants (sampled 300 via entrez): RS1000164784 (5:44813970 T>G), RS1000179013 (5:44809940 C>T), RS1000524305 (5:44811247 T>A,G), RS1000768593 (5:44812406 C>G), RS1000971075 (5:44812730 A>C), RS1001008152 (5:44807245 A>T), RS1001033011 (5:44811725 C>G,T), RS1001252828 (5:44815396 A>T), RS1001409981 (5:44815071 C>A), RS1001430723 (5:44809707 T>A,C,G), RS1001636552 (5:44809898 G>C), RS1002938099 (5:44812785 A>G,T), RS1003274955 (5:44814437 A>G), RS1003571845 (5:44808946 C>A,G,T), RS1003576870 (5:44807393 A>G)

Disease associations

OMIM: gene MIM:611991 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

26 associations (top):

Study	Trait	p-value
GCST000811_2	Breast cancer	7.000000e-07
GCST003059_10	Parkinson’s disease	1.000000e-06
GCST003795_4	Age at first birth	2.000000e-10
GCST004988_262	Breast cancer	6.000000e-73
GCST006045_6	Age at first birth	4.000000e-08
GCST006297_4	Response to perphenazine in schizophrenia	7.000000e-06
GCST008058_31	Estimated glomerular filtration rate	5.000000e-11
GCST009379_275	Type 2 diabetes	3.000000e-06
GCST009379_276	Type 2 diabetes	2.000000e-10
GCST009665_3	Breast cancer	2.000000e-10
GCST010796_3860	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-08
GCST010796_3861	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_3862	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-08
GCST010796_3863	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-08
GCST010796_3864	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-08
GCST010796_3865	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_3866	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_3867	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-08
GCST010796_3868	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_3869	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-08
GCST010796_3870	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_3871	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-08
GCST010796_5426	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_5450	Electrocardiogram morphology (amplitude at temporal datapoints)	7.000000e-09
GCST010796_5451	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-08
GCST010796_5491	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-08

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0009101	age at first birth measurement
EFO:0004327	electrocardiography

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
deoxynivalenol	increases expression	2
sodium arsenite	affects cotreatment, decreases expression, increases expression	2
Arsenic Trioxide	increases expression	2
Leflunomide	increases expression	2
Acetaminophen	decreases expression	2
aristolochic acid I	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, decreases methylation	1
nobiletin	decreases reaction, increases expression	1
sodium arsenate	decreases reaction, increases expression	1
arsenite	affects binding, increases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
cobaltous chloride	increases expression	1
potassium chromate(VI)	increases expression	1
di-n-butylphosphoric acid	affects expression	1
cylindrospermopsin	increases expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
monomethylarsonous acid	increases expression	1
ICG 001	increases expression	1
bisphenol B	increases expression	1
abrine	increases expression	1
bisphenol AF	increases expression	1
Irinotecan	decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Air Pollutants	affects expression, increases abundance	1
Anisomycin	increases expression	1
Atrazine	increases expression	1
Benzo(a)pyrene	decreases methylation	1
Dietary Carbohydrates	decreases expression	1

Clinical trials (associated diseases)

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