FRY

Summary

FRY (FRY microtubule binding protein, HGNC:20367) is a protein-coding gene on chromosome 13q13.1, encoding Protein furry homolog (Q5TBA9). Plays a crucial role in the structural integrity of mitotic centrosomes and in the maintenance of spindle bipolarity by promoting PLK1 activity at the spindle poles in early mitosis.

Predicted to enable enzyme inhibitor activity. Predicted to be involved in cell morphogenesis and neuron projection development. Predicted to be located in centrosome; cytoplasm; and spindle pole. Predicted to be active in cell cortex and site of polarized growth.

Source: NCBI Gene 10129 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder (Moderate, GenCC)
• GWAS associations: 13
• Clinical variants (ClinVar): 360 total — 1 likely-pathogenic
• MANE Select transcript: NM_023037

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20367
Approved symbol	FRY
Name	FRY microtubule binding protein
Location	13q13.1
Locus type	gene with protein product
Status	Approved
Aliases	bA37E23.1, 13CDNA73, CG003
Ensembl gene	ENSG00000073910
Ensembl biotype	protein_coding
OMIM	614818
Entrez	10129

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 6 protein_coding, 5 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000380217, ENST00000418076, ENST00000428783, ENST00000436046, ENST00000441659, ENST00000463566, ENST00000477712, ENST00000490410, ENST00000542859, ENST00000641614, ENST00000642040, ENST00000643293, ENST00000645780, ENST00000647500

RefSeq mRNA: 2 — MANE Select: NM_023037 NM_001411012, NM_023037

CCDS: CCDS41875, CCDS91795

Canonical transcript exons

ENST00000542859 — 61 exons

Exon	Start	End
ENSE00001595853	32184976	32185148
ENSE00001601217	32251878	32251952
ENSE00001620727	32147282	32147385
ENSE00001626937	32202356	32202527
ENSE00001629220	32131672	32131840
ENSE00001630700	32101963	32102016
ENSE00001631871	32231179	32231300
ENSE00001634388	32136871	32136972
ENSE00001635711	32225789	32225974
ENSE00001640792	32149748	32149834
ENSE00001640796	32182977	32183034
ENSE00001641313	32228456	32228654
ENSE00001646792	32135085	32135183
ENSE00001652403	32244042	32244182
ENSE00001652832	32147839	32147947
ENSE00001653037	32224933	32225036
ENSE00001654995	32179675	32179799
ENSE00001659309	32208853	32209109
ENSE00001660226	32078834	32079033
ENSE00001662930	32239711	32239881
ENSE00001665926	32224235	32224385
ENSE00001667352	32236078	32236172
ENSE00001667465	32175546	32175632
ENSE00001670335	32239252	32239349
ENSE00001676626	32249526	32249687
ENSE00001682476	32173367	32173549
ENSE00001686353	32124602	32124681
ENSE00001686546	32155491	32155662
ENSE00001688484	32209585	32209731
ENSE00001690103	32117334	32117473
ENSE00001691975	32187546	32187656
ENSE00001712887	32194143	32194297
ENSE00001717772	32171012	32171270
ENSE00001718598	32218749	32218831
ENSE00001719754	32186260	32186420
ENSE00001721098	32289633	32289743
ENSE00001721114	32124795	32124875
ENSE00001729685	32247323	32247502
ENSE00001733101	32210866	32211034
ENSE00001742688	32237379	32237986
ENSE00001744283	32212292	32212382
ENSE00001748062	32294368	32294570
ENSE00001752325	32178844	32179033
ENSE00001757541	32178177	32178436
ENSE00001780377	32234574	32234761
ENSE00001783100	32161144	32161251
ENSE00001786323	32124286	32124376
ENSE00001790844	32201941	32202040
ENSE00001791640	32134904	32134996
ENSE00001791670	32267170	32267359
ENSE00001793690	32184600	32184691
ENSE00002226383	32295202	32299125
ENSE00002707085	32157273	32157405
ENSE00002726900	32254224	32254394
ENSE00003478456	32276464	32276562
ENSE00003485611	32278465	32278548
ENSE00003509467	32262314	32262475
ENSE00003654889	32261616	32261816
ENSE00003676423	32274842	32274991
ENSE00003735281	32265450	32265616
ENSE00003892958	32031774	32031865

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 97.88.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.7614 / max 729.9568, expressed in 1264 samples.

FANTOM5 promoters (22 alternative TSS)

Promoter ID	TPM avg	Samples expressed
134679	4.9961	617
134673	1.3615	532
134678	1.2112	417
134667	1.0389	302
134671	0.9983	315
134676	0.6954	337
134691	0.6885	182
134670	0.5611	245
134674	0.3893	217
134662	0.2932	137

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
blood vessel layer	UBERON:0004797	97.88	gold quality
popliteal artery	UBERON:0002250	97.23	gold quality
tibial artery	UBERON:0007610	97.23	gold quality
aorta	UBERON:0000947	97.02	gold quality
thoracic aorta	UBERON:0001515	96.81	gold quality
ascending aorta	UBERON:0001496	96.80	gold quality
descending thoracic aorta	UBERON:0002345	96.60	gold quality
left coronary artery	UBERON:0001626	96.43	gold quality
right coronary artery	UBERON:0001625	96.40	gold quality
saphenous vein	UBERON:0007318	96.15	gold quality
apex of heart	UBERON:0002098	96.13	gold quality
renal glomerulus	UBERON:0000074	95.94	gold quality
left ventricle myocardium	UBERON:0006566	95.84	gold quality
mucosa of stomach	UBERON:0001199	95.76	gold quality
metanephric glomerulus	UBERON:0004736	95.75	gold quality
heart left ventricle	UBERON:0002084	95.68	gold quality
tibia	UBERON:0000979	95.66	gold quality
cardiac ventricle	UBERON:0002082	95.65	gold quality
coronary artery	UBERON:0001621	95.59	gold quality
lower esophagus muscularis layer	UBERON:0035833	95.30	gold quality
lower esophagus	UBERON:0013473	95.20	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	95.20	gold quality
heart	UBERON:0000948	95.19	gold quality
myocardium	UBERON:0002349	94.89	gold quality
heart right ventricle	UBERON:0002080	94.59	gold quality
right lung	UBERON:0002167	94.56	gold quality
cardiac atrium	UBERON:0002081	94.29	gold quality
right atrium auricular region	UBERON:0006631	94.27	gold quality
calcaneal tendon	UBERON:0003701	94.25	gold quality
postcentral gyrus	UBERON:0002581	94.23	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-MTAB-6075	yes	793.16
E-CURD-119	yes	30.26
E-MTAB-9067	yes	12.82
E-ANND-3	yes	10.76
E-MTAB-10137	no	404.93
E-MTAB-6678	no	3.95

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

142 targeting FRY, 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-656-3P	100.00	72.15	2788
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-548J-3P	99.94	72.61	4881

Literature-anchored findings (GeneRIF, showing 3)

• Results suggest that MST2-, Fry-, and MOB2-mediated activation of NDR1 is crucial for the fidelity of mitotic chromosome alignment in mammalian cells. (PMID:19327996)
• Fry also binds to Aurora A and promotes Plk1 activity by binding to the polo-box domain of Plk1 and by facilitating Aurora A-mediated Plk1 phosphorylation at Thr-210. (PMID:22753416)
• Results suggest that Fry plays a crucial role in promoting the level of microtubule acetylation in the mitotic spindle by inhibiting the tubulin-deacetylase activity of SIRT2. (PMID:23886946)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Fry	ENSMUSG00000056602
rattus_norvegicus	Fry	ENSRNOG00000000894

Paralogs (1): FRYL (ENSG00000075539)

Protein

Protein identifiers

Protein furry homolog — Q5TBA9 (reviewed: Q5TBA9)

All UniProt accessions (7): Q5TBA9, A0A286YFA9, A0A2R8Y5V8, A0A2R8Y7Y8, A0A2R8YCY2, B1ALA1, H0YE00

UniProt curated annotations — full annotation on UniProt →

Function. Plays a crucial role in the structural integrity of mitotic centrosomes and in the maintenance of spindle bipolarity by promoting PLK1 activity at the spindle poles in early mitosis. May function as a scaffold promoting the interaction between AURKA and PLK1, thereby enhancing AURKA-mediated PLK1 phosphorylation.

Subunit / interactions. When phosphorylated by CDK1, interacts with PLK1; this interaction occurs in mitotic cells, but not in interphase cells, and leads to further phosphorylation by PLK1. Interacts with AURKA.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Spindle pole.

Post-translational modifications. Phosphorylated by AURKA, CDK1 and PLK1.

Similarity. Belongs to the furry protein family.

RefSeq proteins (2): NP_001397941, NP_075463* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR025481	Cell_Morphogen_C	Domain
IPR025614	Cell_morpho_N	Domain
IPR029473	MOR2-PAG1_mid	Domain
IPR039867	Furry/Tao3/Mor2	Family
IPR045842	Fry_C	Domain

Pfam: PF14222, PF14225, PF14228, PF19421

UniProt features (23 total): modified residue 10, region of interest 6, compositionally biased region 5, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

No AlphaFold model available for Q5TBA9 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.

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 (10): 213, 1382, 1383, 1936, 1940, 2419, 2420, 2487, 2508, 2808

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 0 (showing top):

GO Biological Process (3): cell morphogenesis (GO:0000902), neuron projection development (GO:0031175), negative regulation of tubulin deacetylation (GO:1904428)

GO Molecular Function (1): enzyme inhibitor activity (GO:0004857)

GO Cellular Component (6): spindle pole (GO:0000922), centrosome (GO:0005813), cell cortex (GO:0005938), site of polarized growth (GO:0030427), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
anatomical structure morphogenesis	1
neuron development	1
plasma membrane bounded cell projection organization	1
negative regulation of protein modification process	1
tubulin deacetylation	1
regulation of tubulin deacetylation	1
catalytic activity	1
enzyme regulator activity	1
molecular function inhibitor activity	1
spindle	1
centriole	1
microtubule organizing center	1
cytoplasm	1
cell periphery	1
intracellular anatomical structure	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

404 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FRY	GLIPR1L2	Q4G1C9	453
FRY	RXFP2	Q8WXD0	417
FRY	ANKRD18A	Q8IVF6	370
FRY	SLC60A2	Q5TF39	356
FRY	LRSAM1	Q6UWE0	349
FRY	MOB1A	Q9H8S9	347
FRY	ARHGAP28	Q9P2N2	344
FRY	B3GLCT	Q6Y288	334
FRY	SOWAHD	A6NJG2	324
FRY	IGSF6	O95976	321
FRY	PRSS48	Q7RTY5	308
FRY	NTN4	Q9HB63	290
FRY	TRAPPC11	Q7Z392	289
FRY	BRINP1	O60477	286
FRY	LRRN1	Q6UXK5	285

IntAct

25 interactions, top by confidence:

A	B	Type	Score
NHERF2	PODXL	psi-mi:“MI:0914”(association)	0.770
FRYL	YWHAZ	psi-mi:“MI:0914”(association)	0.710
ANKRD22	ESYT2	psi-mi:“MI:0914”(association)	0.530
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
YWHAQ	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
FRY	HNRNPU	psi-mi:“MI:0915”(physical association)	0.400
YWHAG	FRY	psi-mi:“MI:0915”(physical association)	0.400
FRY		psi-mi:“MI:0915”(physical association)	0.370
ORF6	FRY	psi-mi:“MI:0915”(physical association)	0.370
SPG11	FRY	psi-mi:“MI:0915”(physical association)	0.370
FRYL	FLNC	psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
HCN1	USP27X	psi-mi:“MI:0914”(association)	0.350
HCN1	POTEF	psi-mi:“MI:0914”(association)	0.350
VCP	SHTN1	psi-mi:“MI:0914”(association)	0.350
VCP	FAM171A2	psi-mi:“MI:0914”(association)	0.350
CD40	IPO5	psi-mi:“MI:0914”(association)	0.350
CREB3L2	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
VSIG1	RIMOC1	psi-mi:“MI:0914”(association)	0.350
CDKL2	FRY	psi-mi:“MI:0914”(association)	0.350
TNIK	FRY	psi-mi:“MI:0915”(physical association)	0.000
FRY		psi-mi:“MI:0915”(physical association)	0.000
HSPA13	FRY	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (19): FRY (Affinity Capture-MS), FRY (Affinity Capture-MS), FRY (Affinity Capture-RNA), FRY (Two-hybrid), FRY (Proximity Label-MS), FRY (Affinity Capture-MS), FRY (Affinity Capture-MS), FRY (Affinity Capture-MS), FRY (Proximity Label-MS), FRY (Two-hybrid), FRY (Cross-Linking-MS (XL-MS)), MBD3 (Cross-Linking-MS (XL-MS)), FRY (Cross-Linking-MS (XL-MS)), GATAD2B (Cross-Linking-MS (XL-MS)), FRY (Protein-peptide)

ESM2 similar proteins: A0A0R4ITC5, A1L1F4, A4L9P7, E9Q8I9, F1MKX4, F1QFR9, F1R2X6, F8VPU6, O94915, P21359, P42345, P42346, P51593, P97526, Q04690, Q14997, Q29RF7, Q2HJG5, Q498H0, Q4KLU7, Q4QXM3, Q4VA53, Q5F3U9, Q5F3V3, Q5R6J0, Q5SSW2, Q5TBA9, Q5U241, Q5VYK3, Q6A026, Q6DDM4, Q6GP04, Q6NRP2, Q6P4S8, Q6PDI5, Q6TRW4, Q7PX35, Q7TMY8, Q7Z3U7, Q7Z6Z7

Diamond homologs: E9Q8I9, O94915, Q5TBA9, Q9VT28

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 29 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
SARS-CoV-1 Infection	5	44.6×	2e-06
SARS-CoV-2 Infection	5	25.1×	2e-05
SARS-CoV Infections	5	17.3×	6e-05
Viral Infection Pathways	6	11.5×	6e-05
Signaling by Rho GTPases	5	10.7×	5e-04
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	5	10.5×	5e-04
Infectious disease	6	9.3×	2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	235
Likely benign	47
Benign	18

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1527760	GRCh37/hg19 13q13.1(chr13:32668491-32709676)	Likely pathogenic

SpliceAI

8996 predictions. Top by Δscore:

Variant	Effect	Δscore
13:32031866:G:GG	donor_gain	1.0000
13:32038534:A:G	donor_gain	1.0000
13:32078829:TTCA:T	acceptor_loss	1.0000
13:32078830:TCA:T	acceptor_loss	1.0000
13:32078832:A:AC	acceptor_loss	1.0000
13:32078832:A:AG	acceptor_gain	1.0000
13:32078833:G:GC	acceptor_gain	1.0000
13:32078833:GC:G	acceptor_gain	1.0000
13:32078833:GCT:G	acceptor_gain	1.0000
13:32078833:GCTT:G	acceptor_gain	1.0000
13:32078833:GCTTC:G	acceptor_gain	1.0000
13:32079031:CTGGT:C	donor_loss	1.0000
13:32079032:TGG:T	donor_loss	1.0000
13:32079033:GGT:G	donor_loss	1.0000
13:32079034:G:GG	donor_gain	1.0000
13:32079034:GTGA:G	donor_loss	1.0000
13:32079035:T:A	donor_loss	1.0000
13:32079036:G:GG	donor_loss	1.0000
13:32079037:AG:A	donor_loss	1.0000
13:32101958:TCTA:T	acceptor_loss	1.0000
13:32101959:CTA:C	acceptor_loss	1.0000
13:32101960:TAGG:T	acceptor_loss	1.0000
13:32101961:A:AC	acceptor_loss	1.0000
13:32101961:A:AG	acceptor_gain	1.0000
13:32101962:G:GG	acceptor_gain	1.0000
13:32101962:G:T	acceptor_loss	1.0000
13:32102014:CAGG:C	donor_loss	1.0000
13:32102015:AGGT:A	donor_loss	1.0000
13:32102016:GGTA:G	donor_loss	1.0000
13:32102017:GTAT:G	donor_loss	1.0000

AlphaMissense

19872 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:32136934:T:A	W381R	1.000
13:32136934:T:C	W381R	1.000
13:32147336:T:A	W412R	1.000
13:32147336:T:C	W412R	1.000
13:32157330:T:C	L570P	1.000
13:32161170:T:C	L604P	1.000
13:32186328:T:A	W1130R	1.000
13:32186328:T:C	W1130R	1.000
13:32187621:T:A	W1186R	1.000
13:32187621:T:C	W1186R	1.000
13:32209624:T:A	W1439R	1.000
13:32209624:T:C	W1439R	1.000
13:32237887:G:A	G2107R	1.000
13:32237887:G:C	G2107R	1.000
13:32239804:T:A	W2204R	1.000
13:32239804:T:C	W2204R	1.000
13:32101985:T:C	L98P	0.999
13:32117400:T:A	W131R	0.999
13:32117400:T:C	W131R	0.999
13:32124321:G:C	R167P	0.999
13:32124327:T:C	L169P	0.999
13:32124329:G:C	A170P	0.999
13:32124330:C:A	A170D	0.999
13:32124839:T:C	L227P	0.999
13:32131772:G:C	G273R	0.999
13:32131773:G:A	G273D	0.999
13:32134959:C:A	A314D	0.999
13:32134965:T:C	L316P	0.999
13:32134980:T:C	L321P	0.999
13:32134992:C:A	A325D	0.999

dbSNP variants (sampled 300 via entrez): RS1000013025 (13:32106741 T>C), RS1000041285 (13:32205042 A>C), RS1000045945 (13:32249303 C>G), RS1000089376 (13:32217155 G>A), RS1000115154 (13:32113620 G>T), RS1000122887 (13:32125166 G>T), RS1000128378 (13:32103512 G>A), RS1000141237 (13:32292698 A>G,T), RS1000155065 (13:32208158 G>A,C), RS1000159378 (13:32085581 G>T), RS1000169602 (13:32128072 T>G), RS1000178100 (13:32169596 T>C), RS1000178394 (13:32279267 T>A), RS1000201523 (13:32038907 T>G), RS1000223964 (13:32294619 G>A,C)

Disease associations

OMIM: gene MIM:614818 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder	Moderate	Autosomal recessive

Mondo (2): intellectual disability (MONDO:0001071), neurodevelopmental disorder (MONDO:0700092)

Orphanet (1): NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

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

GWAS associations

13 associations (top):

Study	Trait	p-value
GCST002466_1	Lung cancer	2.000000e-19
GCST002466_3	Lung cancer	5.000000e-20
GCST002587_20	Blood pressure (smoking interaction)	4.000000e-07
GCST002587_21	Blood pressure (smoking interaction)	2.000000e-06
GCST003587_16	Cancer	1.000000e-07
GCST003588_26	Cancer (pleiotropy)	4.000000e-09
GCST004689_3	Resistance to Mycobacterium tuberculosis in HIV-positive individuals measured by a negative tuberculin skin test (continuous)	3.000000e-06
GCST004748_26	Lung cancer	1.000000e-07
GCST004750_39	Squamous cell lung carcinoma	7.000000e-09
GCST005174_41	Coronary artery calcified atherosclerotic plaque score in type 2 diabetes	5.000000e-07
GCST005175_29	Coronary artery calcified atherosclerotic plaque (90 or 130 HU threshold) in type 2 diabetes	6.000000e-07
GCST009178_9	Caudal middle frontal gyrus volume	3.000000e-06
GCST90002395_152	Mean platelet volume	2.000000e-14

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0006335	systolic blood pressure
EFO:0006526	pack-years measurement
EFO:0006525	cigarettes per day measurement
EFO:1001515	ovarian endometrioid carcinoma
EFO:1001516	ovarian serous carcinoma
EFO:0008307	tuberculin skin test reactivity measurement
EFO:0008322	decreased susceptibility to bacterial infection
EFO:0004723	coronary artery calcification

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects expression, decreases expression, increases methylation	7
Valproic Acid	decreases expression, affects expression	4
methylmercuric chloride	increases expression, affects cotreatment	3
trichostatin A	affects cotreatment, decreases expression	3
Estradiol	affects expression, affects cotreatment, increases expression	3
Tretinoin	decreases expression, increases expression	3
Aflatoxin B1	affects expression, decreases expression	3
bisphenol A	decreases methylation, increases expression	2
entinostat	affects cotreatment, decreases expression	2
Vorinostat	affects cotreatment, decreases expression	2
Tobacco Smoke Pollution	decreases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	affects expression, decreases expression	2
Cyclosporine	decreases expression, increases expression	2
Cadmium Chloride	increases abundance, increases expression	2
Particulate Matter	decreases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	decreases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	affects binding, increases reaction	1
cobaltous chloride	decreases expression	1
butyraldehyde	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
nickel sulfate	decreases expression	1
hydroquinone	increases expression	1
epigallocatechin gallate	increases expression, affects cotreatment, decreases expression	1
avobenzone	decreases expression	1
di-n-butylphosphoric acid	affects expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	PHASE1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT01783041	PHASE2/PHASE3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385	PHASE2/PHASE3	RECRUITING	Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098	EARLY_PHASE1	NOT_YET_RECRUITING	Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy
NCT00783783	Not specified	COMPLETED	CYP2D6 Pharmacogenetics in Risperidone-Treated Children
NCT01778504	Not specified	RECRUITING	Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders
NCT01850784	Not specified	UNKNOWN	High Energy Formula Feeding in Infants With Congenital Heart Disease
NCT01922791	Not specified	COMPLETED	Nutrition and Pregnancy Intervention Study
NCT01942525	Not specified	UNKNOWN	Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants
NCT02003170	Not specified	COMPLETED	Etiology and Early Diagnosis of Neurodevelopmental Disorders
NCT02118649	Not specified	ACTIVE_NOT_RECRUITING	Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game
NCT02557191	Not specified	TERMINATED	Biomarkers, Neurodevelopment and Preterm Infants
NCT02690675	Not specified	COMPLETED	Iron Supplement Effect on Child Development
NCT02694003	Not specified	COMPLETED	Better Nights, Better Days for Children With Neurodevelopment Disorders
NCT02792894	Not specified	COMPLETED	Family Networks (FaNs) for Children With Developmental Disorders and Delays