MPHOSPH9

Summary

MPHOSPH9 (M-phase phosphoprotein 9, HGNC:7215) is a protein-coding gene on chromosome 12q24.31, encoding M-phase phosphoprotein 9 (Q99550). Negatively regulates cilia formation by recruiting the CP110-CEP97 complex (a negative regulator of ciliogenesis) at the distal end of the mother centriole in ciliary cells.

Involved in negative regulation of cilium assembly. Located in Golgi apparatus; centriole; and centrosome. Implicated in multiple sclerosis.

Source: NCBI Gene 10198 — RefSeq curated summary.

At a glance

• GWAS associations: 37
• Clinical variants (ClinVar): 184 total
• MANE Select transcript: NM_022782

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7215
Approved symbol	MPHOSPH9
Name	M-phase phosphoprotein 9
Location	12q24.31
Locus type	gene with protein product
Status	Approved
Aliases	MPP9
Ensembl gene	ENSG00000051825
Ensembl biotype	protein_coding
OMIM	605501
Entrez	10198

Gene structure

Transcript identifiers

Ensembl transcripts: 33 — 17 protein_coding, 6 nonsense_mediated_decay, 6 retained_intron, 4 protein_coding_CDS_not_defined

ENST00000302373, ENST00000369865, ENST00000535049, ENST00000536198, ENST00000537854, ENST00000538169, ENST00000538250, ENST00000539024, ENST00000539336, ENST00000539639, ENST00000541076, ENST00000541437, ENST00000541603, ENST00000541823, ENST00000544217, ENST00000545406, ENST00000545556, ENST00000545974, ENST00000563178, ENST00000606320, ENST00000606321, ENST00000606326, ENST00000606704, ENST00000607619, ENST00000908507, ENST00000908508, ENST00000908509, ENST00000908510, ENST00000918121, ENST00000918122, ENST00000962748, ENST00000962749, ENST00000962750

RefSeq mRNA: 1 — MANE Select: NM_022782 NM_022782

CCDS: CCDS9243

Canonical transcript exons

ENST00000606320 — 24 exons

Exon	Start	End
ENSE00001230554	123202624	123203084
ENSE00002229499	123154215	123156908
ENSE00002265528	123221372	123221895
ENSE00002278211	123227463	123227616
ENSE00002283947	123233075	123233141
ENSE00002610583	123203250	123203375
ENSE00003479662	123223038	123223127
ENSE00003531675	123218376	123218499
ENSE00003694794	123181163	123181210
ENSE00003694916	123160781	123160849
ENSE00003695420	123202164	123202319
ENSE00003695696	123165302	123165477
ENSE00003695777	123166655	123166789
ENSE00003695857	123194386	123194601
ENSE00003696471	123163014	123163134
ENSE00003696540	123230261	123230522
ENSE00003697169	123198247	123198334
ENSE00003698358	123161136	123161383
ENSE00003700005	123163950	123164090
ENSE00003700882	123162115	123162218
ENSE00003701412	123214744	123214834
ENSE00003701558	123179926	123179990
ENSE00003701606	123176688	123176789
ENSE00003701691	123210056	123210162

Expression profiles

Bgee: expression breadth ubiquitous, 244 present calls, max score 91.55.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.9347 / max 243.9932, expressed in 1758 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
133907	15.0581	1746
133908	0.7213	434
133906	0.0777	29
133905	0.0628	24
133909	0.0148	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	91.55	gold quality
adrenal tissue	UBERON:0018303	91.47	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	90.87	gold quality
left testis	UBERON:0004533	90.58	gold quality
right testis	UBERON:0004534	90.09	gold quality
colonic epithelium	UBERON:0000397	89.52	gold quality
ganglionic eminence	UBERON:0004023	89.25	gold quality
testis	UBERON:0000473	88.72	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.32	gold quality
calcaneal tendon	UBERON:0003701	88.04	gold quality
bone marrow cell	CL:0002092	87.47	gold quality
sural nerve	UBERON:0015488	86.36	gold quality
monocyte	CL:0000576	84.69	gold quality
right lobe of liver	UBERON:0001114	84.54	gold quality
leukocyte	CL:0000738	84.38	gold quality
mononuclear cell	CL:0000842	84.37	gold quality
stromal cell of endometrium	CL:0002255	84.24	gold quality
lymph node	UBERON:0000029	83.98	gold quality
granulocyte	CL:0000094	83.68	gold quality
corpus callosum	UBERON:0002336	83.62	gold quality
pituitary gland	UBERON:0000007	83.52	gold quality
right hemisphere of cerebellum	UBERON:0014890	83.47	gold quality
adenohypophysis	UBERON:0002196	83.44	gold quality
secondary oocyte	CL:0000655	82.94	gold quality
cerebellar cortex	UBERON:0002129	82.85	gold quality
cerebellar hemisphere	UBERON:0002245	82.77	gold quality
islet of Langerhans	UBERON:0000006	82.53	gold quality
right adrenal gland	UBERON:0001233	82.47	gold quality
metanephros cortex	UBERON:0010533	82.33	gold quality
bone marrow	UBERON:0002371	82.13	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.47
E-CURD-119	no	393.75

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

96 targeting MPHOSPH9, 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-3163	100.00	77.23	8605
HSA-MIR-340-5P	100.00	72.50	4437
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-371B-5P	99.99	75.34	4759
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-454-3P	99.91	74.01	1925

Literature-anchored findings (GeneRIF, showing 3)

• The MPHOSPH9 polymorphism was associated with greater attack severity in Multiple sclerosis (PMID:24130709)
• MPP9 acts as a regulator of ciliogenesis by regulating the localization of CP110-CEP97 at the mother centriole. (PMID:30375385)
• M-Phase Phosphoprotein 9 upregulation associates with poor prognosis and activates mTOR signaling in gastric cancer. (PMID:33174370)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Mphosph9	ENSMUSG00000038126
rattus_norvegicus	Mphosph9	ENSRNOG00000001074

Protein

Protein identifiers

M-phase phosphoprotein 9 — Q99550 (reviewed: Q99550)

All UniProt accessions (14): A0A8I5IG87, Q99550, F5GYG6, F5GYP5, F5H1U6, F5H1W2, F5H2I5, F5H798, H0YFS3, H0YG46, J3KNE4, U3KQ61, U3KQD6, U3KQJ0

UniProt curated annotations — full annotation on UniProt →

Function. Negatively regulates cilia formation by recruiting the CP110-CEP97 complex (a negative regulator of ciliogenesis) at the distal end of the mother centriole in ciliary cells. At the beginning of cilia formation, MPHOSPH9 undergoes TTBK2-mediated phosphorylation and degradation via the ubiquitin-proteasome system and removes itself and the CP110-CEP97 complex from the distal end of the mother centriole, which subsequently promotes cilia formation.

Subunit / interactions. Interacts with CCP110, CEP97 and KIF24.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriole. Golgi apparatus membrane.

Post-translational modifications. TTBK2-mediated phosphorylation at Ser-781 and Ser-788, promotes its ubiquitination at Lys-784 leading to proteasomal degradation, loss of MPHOSPH9 facilitates the removal of the CP110-CEP97 complex from the mother centrioles, promoting the initiation of ciliogenesis. Phosphorylated in M (mitotic) phase. Ubiquitinated at Lys-784, leading to proteasomal degradation.

Isoforms (2)

UniProt ID	Names	Canonical?
Q99550-1	1	yes
Q99550-2	2

RefSeq proteins (1): NP_073619* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026636	MPHOSPH9	Family

UniProt features (26 total): region of interest 8, compositionally biased region 4, modified residue 3, mutagenesis site 3, coiled-coil region 2, sequence variant 2, chain 1, cross-link 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q99550-F1	55.83	0.23

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): 781, 788, 994, 784

Mutagenesis-validated functional residues (3):

Position	Phenotype
781	loss of phosphorylation and localization at distal ends of the mother centriole. significant decrease in ubiquitination;
784	decreased ubiquitination and increased protein stability.
788	reduced phosphorylation. significant decrease in ubiquitination; when associated with a-781.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 257 (showing top): BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, DACOSTA_UV_RESPONSE_VIA_ERCC3_XPCS_DN, WANG_RECURRENT_LIVER_CANCER_UP, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_NEGATIVE_REGULATION_OF_ORGANELLE_ASSEMBLY, PATIL_LIVER_CANCER, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, PUJANA_CHEK2_PCC_NETWORK, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, ONKEN_UVEAL_MELANOMA_UP, FISCHER_G2_M_CELL_CYCLE, DACOSTA_UV_RESPONSE_VIA_ERCC3_TTD_DN, GOBP_CILIUM_ORGANIZATION, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_1_DN

GO Biological Process (1): negative regulation of cilium assembly (GO:1902018)

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

GO Cellular Component (7): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), centrosome (GO:0005813), centriole (GO:0005814), membrane (GO:0016020), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
microtubule organizing center	2
intracellular membraneless organelle	2
cellular anatomical structure	2
cilium assembly	1
negative regulation of plasma membrane bounded cell projection assembly	1
regulation of cilium assembly	1
negative regulation of organelle assembly	1
binding	1
Golgi apparatus	1
bounding membrane of organelle	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
centriole	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

2875 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MPHOSPH9	CCNB1	P14635	777
MPHOSPH9	CEP97	Q8IW35	544
MPHOSPH9	CEP83	Q9Y592	528
MPHOSPH9	TTBK2	Q6IQ55	494
MPHOSPH9	ACTMAP	Q5BKX5	489
MPHOSPH9	CCP110	O43303	464
MPHOSPH9	PCNX3	Q9H6A9	454
MPHOSPH9	CEP164	Q9UPV0	452
MPHOSPH9	KIF24	Q5T7B8	441
MPHOSPH9	OGFOD2	Q6N063	417
MPHOSPH9	USP53	Q70EK8	404
MPHOSPH9	MMP9	P14780	400
MPHOSPH9	USPL1	Q5W0Q7	395
MPHOSPH9	CANT1	Q8WVQ1	394
MPHOSPH9	SBNO1	A3KN83	391

IntAct

77 interactions, top by confidence:

A	B	Type	Score
IKBKG	IKBKB	psi-mi:“MI:0914”(association)	0.980
CEP97	CCP110	psi-mi:“MI:2364”(proximity)	0.950
MED4	MED19	psi-mi:“MI:2364”(proximity)	0.900
CEP290	CCP110	psi-mi:“MI:2364”(proximity)	0.890
DYNLL1	BLTP3B	psi-mi:“MI:0914”(association)	0.730
YWHAG	BLTP3B	psi-mi:“MI:2364”(proximity)	0.640
DYNLL2	BLTP3B	psi-mi:“MI:0914”(association)	0.640
YWHAB	BLTP3B	psi-mi:“MI:2364”(proximity)	0.610
YWHAH	BLTP3B	psi-mi:“MI:2364”(proximity)	0.570
CEP104	CCDC66	psi-mi:“MI:2364”(proximity)	0.540
YWHAZ	BLTP3B	psi-mi:“MI:0914”(association)	0.530
KXD1	HIP1	psi-mi:“MI:0914”(association)	0.530
PIH1D1	URI1	psi-mi:“MI:0914”(association)	0.530
MPHOSPH9	TMCO1	psi-mi:“MI:0915”(physical association)	0.400
MPHOSPH9		psi-mi:“MI:0915”(physical association)	0.370
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
KATNB1	TUBA8	psi-mi:“MI:0914”(association)	0.350
USP11	PRRC2B	psi-mi:“MI:0914”(association)	0.350
TUBB4B	TUBA1B	psi-mi:“MI:0914”(association)	0.350
YWHAE	DEPDC5	psi-mi:“MI:0914”(association)	0.350
KRT2	IFT56	psi-mi:“MI:0914”(association)	0.350
LURAP1	CIBAR1	psi-mi:“MI:0914”(association)	0.350
CFAP184	TARS3	psi-mi:“MI:0914”(association)	0.350
KRT37	ANKRD36	psi-mi:“MI:0914”(association)	0.350
BFSP1	RABGAP1L	psi-mi:“MI:0914”(association)	0.350
SLC7A9	CDC7	psi-mi:“MI:0914”(association)	0.350
PIH1D1		psi-mi:“MI:0914”(association)	0.350
CEP290	ARPC3	psi-mi:“MI:2364”(proximity)	0.270
OFD1	CCDC85C	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (116): MPHOSPH9 (Proximity Label-MS), MPHOSPH9 (Proximity Label-MS), MPHOSPH9 (Proximity Label-MS), MPHOSPH9 (Proximity Label-MS), MPHOSPH9 (Proximity Label-MS), MPHOSPH9 (Proximity Label-MS), MPHOSPH9 (Proximity Label-MS), MPHOSPH9 (Proximity Label-MS), MPHOSPH9 (Proximity Label-MS), MPHOSPH9 (Proximity Label-MS), MPHOSPH9 (Proximity Label-MS), MPHOSPH9 (Proximity Label-MS), MPHOSPH9 (Proximity Label-MS), MPHOSPH9 (Proximity Label-MS), MPHOSPH9 (Proximity Label-MS)

ESM2 similar proteins: A0A140LFM6, A0A1B0GVH6, A0A1L8H8C0, A0A2K1JJ00, A0JMD2, A2ARZ3, A2AWL7, A4IGV6, A6H5Y1, D3ZJ47, E9Q309, F1QPR4, F5H4B4, H0WFA5, O14513, O35413, O94875, P0CAX8, P48437, Q12912, Q15468, Q1LXZ9, Q1X8D7, Q28FG2, Q3UTJ2, Q3ZBS1, Q499E5, Q49A88, Q4V7H1, Q5T5U3, Q5VT06, Q62417, Q62770, Q69Z38, Q6DFB0, Q80TY4, Q8BLN6, Q8CB14, Q8IWI9, Q8K0T7

Diamond homologs: A6H5Y1, Q99550

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
TTBK2	“down-regulates quantity”	MPHOSPH9	phosphorylation
FUS	“down-regulates quantity by repression”	MPHOSPH9	“post transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 86 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	7	91.9×	2e-11
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	81.1×	4e-11
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	81.1×	4e-11
Activation of BH3-only proteins	7	59.9×	4e-10
Loss of Nlp from mitotic centrosomes	14	38.3×	3e-17
Loss of proteins required for interphase microtubule organization from the centrosome	14	38.3×	3e-17
RHO GTPases activate PKNs	7	38.3×	1e-08
AURKA Activation by TPX2	14	36.8×	5e-17

GO biological processes:

GO term	Partners	Fold	FDR
centriole replication	5	45.8×	1e-05
protein targeting	6	27.5×	1e-05
substantia nigra development	5	22.9×	2e-04
non-motile cilium assembly	5	18.2×	6e-04
autophagosome assembly	5	14.0×	2e-03
intracellular protein localization	10	13.1×	2e-06
positive regulation of autophagy	5	13.0×	2e-03
cilium assembly	11	10.1×	3e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	151
Likely benign	9
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

4715 predictions. Top by Δscore:

Variant	Effect	Δscore
12:123156801:CAAAT:C	donor_gain	1.0000
12:123156805:T:C	donor_gain	1.0000
12:123161323:G:T	acceptor_gain	1.0000
12:123162117:T:TA	donor_gain	1.0000
12:123163131:TTTG:T	acceptor_gain	1.0000
12:123163132:TTG:T	acceptor_gain	1.0000
12:123163132:TTGCT:T	acceptor_loss	1.0000
12:123163133:TG:T	acceptor_gain	1.0000
12:123163133:TGC:T	acceptor_loss	1.0000
12:123163134:GCTA:G	acceptor_loss	1.0000
12:123163135:C:CC	acceptor_gain	1.0000
12:123163135:C:CG	acceptor_loss	1.0000
12:123163137:A:C	acceptor_gain	1.0000
12:123163948:A:AC	donor_gain	1.0000
12:123163949:C:CC	donor_gain	1.0000
12:123164087:TTTA:T	acceptor_gain	1.0000
12:123164088:TTA:T	acceptor_gain	1.0000
12:123164089:TA:T	acceptor_gain	1.0000
12:123164090:ACT:A	acceptor_loss	1.0000
12:123164091:C:CC	acceptor_gain	1.0000
12:123164091:CTACA:C	acceptor_loss	1.0000
12:123164095:A:T	acceptor_gain	1.0000
12:123164097:C:CT	acceptor_gain	1.0000
12:123164098:A:T	acceptor_gain	1.0000
12:123164102:C:CT	acceptor_gain	1.0000
12:123164102:C:T	acceptor_gain	1.0000
12:123164103:A:T	acceptor_gain	1.0000
12:123165294:ATACT:A	donor_loss	1.0000
12:123165296:ACTC:A	donor_loss	1.0000
12:123165298:TCAC:T	donor_loss	1.0000

AlphaMissense

7788 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:123161155:A:G	L1121P	0.999
12:123156847:A:G	L1171P	0.998
12:123156892:C:G	R1156P	0.998
12:123156859:A:T	V1167D	0.997
12:123160836:A:G	L1132P	0.997
12:123160843:C:G	A1130P	0.997
12:123202272:A:G	L610P	0.997
12:123156843:C:A	K1172N	0.996
12:123156843:C:G	K1172N	0.996
12:123156857:G:T	R1168S	0.996
12:123156868:A:G	L1164P	0.996
12:123160840:C:G	A1131P	0.996
12:123163091:A:C	S984R	0.996
12:123163091:A:T	S984R	0.996
12:123163093:T:G	S984R	0.996
12:123202287:C:G	R605P	0.996
12:123202305:A:G	L599P	0.996
12:123156856:C:G	R1168P	0.995
12:123161142:C:A	K1125N	0.995
12:123161142:C:G	K1125N	0.995
12:123181209:A:G	L748P	0.995
12:123202269:C:G	R611P	0.995
12:123156889:A:G	L1157S	0.994
12:123198303:C:G	A657P	0.994
12:123156837:G:C	F1174L	0.993
12:123156837:G:T	F1174L	0.993
12:123156839:A:G	F1174L	0.993
12:123156866:C:G	G1165R	0.993
12:123202291:C:G	A604P	0.993
12:123156832:A:T	V1176D	0.992

dbSNP variants (sampled 300 via entrez): RS1000109951 (12:123159158 T>G), RS1000144839 (12:123221200 A>T), RS1000147791 (12:123176520 T>C), RS1000169561 (12:123221288 A>G), RS1000280497 (12:123228460 C>A,T), RS1000293944 (12:123195452 G>A), RS1000312353 (12:123243536 A>G,T), RS1000330629 (12:123228148 G>A), RS1000386274 (12:123188743 T>C), RS1000416746 (12:123169291 C>T), RS1000452532 (12:123234230 G>A,C), RS1000459264 (12:123220252 C>T), RS1000461269 (12:123239983 G>C), RS1000468924 (12:123177077 C>T), RS1000515563 (12:123194042 G>A)

Disease associations

OMIM: gene MIM:605501 | disease phenotypes: MIM:613559

GenCC curated gene-disease

Mondo (1): combined oxidative phosphorylation defect type 7 (MONDO:0013306)

Orphanet (1): Combined oxidative phosphorylation defect type 7 (Orphanet:254930)

HPO phenotypes

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

GWAS associations

37 associations (top):

Study	Trait	p-value
GCST000424_13	Multiple sclerosis	7.000000e-07
GCST002149_20	Schizophrenia	2.000000e-08
GCST002352_46	Type 2 diabetes	1.000000e-08
GCST002539_19	Schizophrenia	2.000000e-14
GCST002598_15	Educational attainment	7.000000e-08
GCST004521_72	Autism spectrum disorder or schizophrenia	8.000000e-12
GCST004603_125	Platelet count	8.000000e-13
GCST004607_87	Plateletcrit	1.000000e-12
GCST004946_76	Schizophrenia	6.000000e-13
GCST004946_85	Schizophrenia	6.000000e-18
GCST005316_379	Intelligence (MTAG)	2.000000e-10
GCST005316_381	Intelligence (MTAG)	2.000000e-09
GCST005987_19	Albumin-globulin ratio	2.000000e-08
GCST006803_10	Schizophrenia	6.000000e-16
GCST007201_179	Schizophrenia	1.000000e-17
GCST007201_279	Schizophrenia	4.000000e-12
GCST007277_17	Tourette syndrome	2.000000e-06
GCST007515_2	Type 2 diabetes	6.000000e-07
GCST007516_17	Type 2 diabetes (adjusted for BMI)	1.000000e-07
GCST007518_27	Type 2 diabetes (adjusted for BMI)	4.000000e-06
GCST008369_22	Plasma anti-thyroglobulin levels	4.000000e-06
GCST008595_123	Cognitive ability, years of educational attainment or schizophrenia (pleiotropy)	1.000000e-25
GCST009030_19	Venous thromboembolism	4.000000e-08
GCST009379_353	Type 2 diabetes	2.000000e-10
GCST009600_21	Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy)	5.000000e-10
GCST010703_43	Brain morphology (MOSTest)	1.000000e-08
GCST012227_567	Hip circumference adjusted for BMI	8.000000e-14
GCST90002402_207	Platelet count	1.000000e-27
GCST90020024_438	A body shape index	6.000000e-11
GCST90020025_31	Waist-to-hip ratio adjusted for BMI	7.000000e-11

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0004784	self reported educational attainment
EFO:0004309	platelet count
EFO:0007985	platelet crit
EFO:0004337	intelligence
EFO:0005128	albumin:globulin ratio measurement
EFO:0004346	neuroimaging measurement
EFO:0008039	BMI-adjusted hip circumference
EFO:0007789	BMI-adjusted waist circumference
EFO:0007788	BMI-adjusted waist-hip ratio

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression, decreases methylation	7
bisphenol A	affects cotreatment, increases methylation, increases expression	2
sodium arsenite	decreases expression, affects cotreatment, increases abundance	2
Resveratrol	affects cotreatment, increases expression	2
Genistein	increases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	increases expression	1
FR900359	increases phosphorylation	1
dicrotophos	decreases expression	1
testosterone enanthate	affects expression	1
triphenyl phosphate	affects expression	1
potassium perchlorate	increases expression	1
trichostatin A	decreases expression	1
butyraldehyde	decreases expression	1
manganese chloride	decreases expression, increases abundance, affects cotreatment	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	increases expression	1
Air Pollutants, Occupational	affects expression	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Cadmium	increases abundance, increases expression	1
Caffeine	decreases phosphorylation	1
Coumestrol	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1

Clinical trials (associated diseases)

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