ANKRD34A

Summary

ANKRD34A (ankyrin repeat domain 34A, HGNC:27639) is a protein-coding gene on chromosome 1q21.1, encoding Ankyrin repeat domain-containing protein 34A (Q69YU3).

Predicted to be active in pi-body.

Source: NCBI Gene 284615 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 154 total — 37 pathogenic, 11 likely-pathogenic
• Phenotypes (HPO): 3
• MANE Select transcript: NM_001039888

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27639
Approved symbol	ANKRD34A
Name	ankyrin repeat domain 34A
Location	1q21.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000272031
Ensembl biotype	protein_coding
Entrez	284615

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000606888, ENST00000619519, ENST00000619813, ENST00000855736

RefSeq mRNA: 1 — MANE Select: NM_001039888 NM_001039888

CCDS: CCDS72874

Canonical transcript exons

ENST00000606888 — 4 exons

Exon	Start	End
ENSE00003694858	145959441	145961879
ENSE00003697880	145963310	145963537
ENSE00003698669	145964184	145964575
ENSE00003700928	145962421	145962968

Expression profiles

Bgee: expression breadth ubiquitous, 168 present calls, max score 85.58.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 2.9297 / max 63.8719, expressed in 1004 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
14174	1.5342	527
14178	0.5511	272
14177	0.3021	143
14168	0.2384	105
14173	0.1344	54
14166	0.0660	18
14167	0.0579	21
14172	0.0218	8
14175	0.0217	8
14176	0.0020	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
prefrontal cortex	UBERON:0000451	85.58	gold quality
right hemisphere of cerebellum	UBERON:0014890	85.10	gold quality
cerebellar hemisphere	UBERON:0002245	84.32	gold quality
cerebellar cortex	UBERON:0002129	84.30	gold quality
right frontal lobe	UBERON:0002810	84.21	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	83.87	gold quality
cerebellum	UBERON:0002037	83.76	gold quality
frontal cortex	UBERON:0001870	83.62	gold quality
Brodmann (1909) area 9	UBERON:0013540	83.25	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.95	gold quality
neocortex	UBERON:0001950	82.76	gold quality
Brodmann (1909) area 46	UBERON:0006483	81.85	gold quality
anterior cingulate cortex	UBERON:0009835	81.48	gold quality
primary visual cortex	UBERON:0002436	81.41	gold quality
cerebral cortex	UBERON:0000956	80.99	gold quality
cortical plate	UBERON:0005343	79.66	gold quality
superior frontal gyrus	UBERON:0002661	79.49	gold quality
entorhinal cortex	UBERON:0002728	79.18	gold quality
caudate nucleus	UBERON:0001873	78.31	gold quality
middle temporal gyrus	UBERON:0002771	77.92	silver quality
brain	UBERON:0000955	77.78	gold quality
forebrain	UBERON:0001890	77.62	gold quality
occipital lobe	UBERON:0002021	77.62	gold quality
nucleus accumbens	UBERON:0001882	77.58	gold quality
postcentral gyrus	UBERON:0002581	77.47	gold quality
putamen	UBERON:0001874	77.26	gold quality
temporal lobe	UBERON:0001871	77.08	gold quality
gastrocnemius	UBERON:0001388	76.64	gold quality
Brodmann (1909) area 23	UBERON:0013554	76.54	gold quality
cerebellar vermis	UBERON:0004720	76.50	silver quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-MTAB-7249	no	35.11
E-ANND-3	no	1.53

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

93 targeting ANKRD34A, 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-6867-5P	100.00	82.21	3464
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-3663-3P	99.84	70.39	798
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-3913-5P	99.78	67.26	968
HSA-MIR-4713-5P	99.78	67.80	1794
HSA-MIR-4802-3P	99.72	70.13	1273
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-6752-5P	99.59	67.32	1243
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-4472	99.56	66.08	1478

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ankrd34a	ENSMUSG00000049097
rattus_norvegicus	Ankrd34a	ENSRNOG00000033741

Paralogs (1): ANKRD34B (ENSG00000189127)

Protein

Protein identifiers

Ankyrin repeat domain-containing protein 34A — Q69YU3 (reviewed: Q69YU3)

All UniProt accessions (3): A0A087WTW1, A0A087X1I1, Q69YU3

UniProt curated annotations — full annotation on UniProt →

Post-translational modifications. Methylated at Gln-15 by N6AMT1.

Similarity. Belongs to the ANKRD34 family.

RefSeq proteins (1): NP_001034977* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002110	Ankyrin_rpt	Repeat
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR042637	AN34A/B/C	Family

Pfam: PF12796

UniProt features (15 total): compositionally biased region 6, repeat 4, modified residue 2, chain 1, mutagenesis site 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q69YU3-F1	57.86	0.19

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 (2): 15, 316

Mutagenesis-validated functional residues (1):

Position	Phenotype
15	abolishes methylation by n6amt1.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 60 (showing top): chr1q21, GOCC_RIBONUCLEOPROTEIN_GRANULE, GOCC_POLE_PLASM, GOCC_PI_BODY, GOCC_SUPRAMOLECULAR_COMPLEX, GSE14386_UNTREATED_VS_IFNA_TREATED_ACT_PBMC_MS_PATIENT_UP, MEF2D_TARGET_GENES, RYBP_TARGET_GENES, ZNF329_TARGET_GENES, ZNF407_TARGET_GENES, ZNF664_TARGET_GENES, MIR6867_5P, MIR4729, MIR4306, MIR6756_5P

GO Biological Process (0):

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

GO Cellular Component (1): pi-body (GO:0071546)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
P granule	1

Protein interactions and networks

STRING

1056 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ANKRD34A	POLR3GL	Q9BT43	578
ANKRD34A	NUDT17	P0C025	507
ANKRD34A	LIX1L	Q8IVB5	480
ANKRD34A	HS3ST6	Q96QI5	450
ANKRD34A	ADGRB2	O60241	429
ANKRD34A	ACP6	Q9NPH0	427
ANKRD34A	ZNF669	Q96BR6	418
ANKRD34A	POLR3C	Q9BUI4	405
ANKRD34A	DBNDD1	Q9H9R9	383
ANKRD34A	MANEAL	Q5VSG8	382
ANKRD34A	CHD1L	Q86WJ1	373
ANKRD34A	PEX11B	O96011	373
ANKRD34A	ZNF404	Q494X3	373
ANKRD34A	FLACC1	Q96Q35	372
ANKRD34A	HJV	Q6ZVN8	370
ANKRD34A	PNMA6A	P0CW24	370

IntAct

53 interactions, top by confidence:

A	B	Type	Score
YWHAZ	BLTP3B	psi-mi:“MI:0914”(association)	0.530
YWHAB	BRAF	psi-mi:“MI:0914”(association)	0.350
YWHAE	DEPDC5	psi-mi:“MI:0914”(association)	0.350
YWHAG	BRAF	psi-mi:“MI:0914”(association)	0.350
ANKRD34A	DCLK1	psi-mi:“MI:0915”(physical association)	0.000
ANKRD34A	SIPA1L1	psi-mi:“MI:0915”(physical association)	0.000
ANKRD34A	KIF1C	psi-mi:“MI:0915”(physical association)	0.000
ANKRD34A	SRGAP2	psi-mi:“MI:0915”(physical association)	0.000
ANKRD34A	GIGYF1	psi-mi:“MI:0915”(physical association)	0.000
ANKRD34A	NADK	psi-mi:“MI:0915”(physical association)	0.000
ANKRD34A	NF1	psi-mi:“MI:0915”(physical association)	0.000
ANKRD34A	AFDN	psi-mi:“MI:0915”(physical association)	0.000
ANKRD34A	HDAC4	psi-mi:“MI:0915”(physical association)	0.000
ANKRD34A	MELK	psi-mi:“MI:0915”(physical association)	0.000
ANKRD34A	TBC1D25	psi-mi:“MI:0915”(physical association)	0.000
MAST3	ANKRD34A	psi-mi:“MI:0915”(physical association)	0.000
EIF4E2	ANKRD34A	psi-mi:“MI:0915”(physical association)	0.000
CDC25B	ANKRD34A	psi-mi:“MI:0915”(physical association)	0.000
CDK16	ANKRD34A	psi-mi:“MI:0915”(physical association)	0.000
TIAM1	ANKRD34A	psi-mi:“MI:0915”(physical association)	0.000
ZNF638	ANKRD34A	psi-mi:“MI:0915”(physical association)	0.000
MAP3K21	ANKRD34A	psi-mi:“MI:0915”(physical association)	0.000
SH3PXD2A	ANKRD34A	psi-mi:“MI:0915”(physical association)	0.000
DENND4C	ANKRD34A	psi-mi:“MI:0915”(physical association)	0.000
PHLDB2	ANKRD34A	psi-mi:“MI:0915”(physical association)	0.000
KSR1	ANKRD34A	psi-mi:“MI:0915”(physical association)	0.000
DENND1A	ANKRD34A	psi-mi:“MI:0915”(physical association)	0.000
RAB3IP	ANKRD34A	psi-mi:“MI:0915”(physical association)	0.000
MAPKAP1	ANKRD34A	psi-mi:“MI:0915”(physical association)	0.000
RTKN	ANKRD34A	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (53): ANKRD34A (Affinity Capture-MS), ANKRD34A (Affinity Capture-MS), ANKRD34A (Affinity Capture-MS), ANKRD34A (Affinity Capture-MS), ANKRD34A (Affinity Capture-MS), ANKRD34A (Affinity Capture-MS), ANKRD34A (Affinity Capture-MS), ANKRD34A (Affinity Capture-MS), ANKRD34A (Affinity Capture-MS), LRFN1 (Affinity Capture-MS), SRSF12 (Affinity Capture-MS), USP21 (Affinity Capture-MS), FAM110A (Affinity Capture-MS), FAM110B (Affinity Capture-MS), MAGI1 (Affinity Capture-MS)

ESM2 similar proteins: A0JNI1, E9Q0S6, O94983, O95402, P80192, Q08AE8, Q1JQA8, Q1LZH7, Q28DG6, Q3B7I8, Q3KPL3, Q3U1V8, Q4VAC9, Q53LP3, Q5BJT1, Q5DU25, Q5HZA4, Q5JU85, Q5M836, Q5PQ30, Q5RBI7, Q5REP3, Q5XG99, Q5ZKK0, Q69YU3, Q6DCC7, Q6DEF4, Q6IPM2, Q6IQA2, Q6P606, Q76G19, Q7TSI1, Q7Z3D4, Q80Y50, Q86UU1, Q8BL43, Q8BY98, Q8C0J6, Q8CC84, Q8IV50

Diamond homologs: A5PLL1, P0C6C1, Q3UUF8, Q5BJT1, Q5PQ89, Q69YU3, Q8BLB8, A2ARS0, C9JTQ0, Q5UPG6

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 55 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
MITF-M-regulated melanocyte development	5	15.4×	2e-04
CDC42 GTPase cycle	6	11.7×	2e-04
RHO GTPase cycle	7	11.4×	6e-05
RHO GTPase Effectors	6	11.0×	2e-04
Signaling by Rho GTPases	11	10.2×	7e-07
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	11	10.0×	7e-07
Transcriptional Regulation by TP53	5	8.4×	2e-03
Diseases of signal transduction by growth factor receptors and second messengers	5	7.7×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
protein targeting	5	34.6×	1e-04
protein phosphorylation	7	9.0×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	37
Likely pathogenic	11
Uncertain significance	93
Likely benign	2
Benign	3

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1070874	NC_000001.10:g.(?145414782)(145509211_?)del	Pathogenic
1333003	GRCh37/hg19 1q21.1(chr1:145038814-145747463)	Pathogenic
146028	GRCh38/hg38 1q21.1(chr1:145688153-146166380)x3	Pathogenic
148600	GRCh38/hg38 1q21.1(chr1:145601946-146019823)x1	Pathogenic
150730	GRCh38/hg38 1q21.1(chr1:145601946-146046631)x1	Pathogenic
151319	GRCh37/hg19 1q21.1(chr1:144955198-145831720)x1	Pathogenic
160833	GRCh38/hg38 1q21.1(chr1:145635445-146009630)x1	Pathogenic
2445217	Single allele	Pathogenic
253437	GRCh37/hg19 1q21.1(chr1:144709677-145735385)x3	Pathogenic
253564	GRCh37/hg19 1q21.1(chr1:145387945-145735385)x1	Pathogenic
2574675	GRCh37/hg19 1q21.1(chr1:145382123-145792051)	Pathogenic
2579208	GRCh38/hg38 1q21.1(chr1:145822587-146064587)x1	Pathogenic
2580306	GRCh37/hg19 1q21.1(chr1:145365275-145826979)x3	Pathogenic
3062018	Single allele	Pathogenic
3242277	GRCh37/hg19 1q21.1(chr1:145382834-145830864)x1	Pathogenic
32650	GRCh38/hg38 1q21.1(chr1:145635445-146009630)x1	Pathogenic
393816	GRCh37/hg19 1q21.1(chr1:145224606-145735326)x3	Pathogenic
393903	GRCh37/hg19 1q21.1(chr1:145388004-146535353)x1	Pathogenic
394029	GRCh37/hg19 1q21.1(chr1:145387945-145735326)x3	Pathogenic
394030	GRCh37/hg19 1q21.1(chr1:145387945-145735326)x1	Pathogenic
394477	GRCh37/hg19 1q21.1(chr1:145283118-145735326)x3	Pathogenic
395087	GRCh37/hg19 1q21.1(chr1:145112506-145735326)x3	Pathogenic
4075862	GRCh37/hg19 1q21.1(chr1:145182059-145747910)x1	Pathogenic
583553	NC_000001.10:g.(?145414782)(145474819_?)del	Pathogenic
58494	GRCh38/hg38 1q21.1-21.2(chr1:145601946-146944906)x1	Pathogenic
59352	GRCh38/hg38 1q21.1-21.2(chr1:145601946-146944906)x3	Pathogenic
59353	GRCh38/hg38 1q21.1-21.2(chr1:145601946-146944906)x3	Pathogenic
59860	GRCh38/hg38 1q21.1-21.2(chr1:145335791-146944906)x1	Pathogenic
59864	GRCh38/hg38 1q21.1(chr1:145335791-146133507)x1	Pathogenic
59867	GRCh38/hg38 1q21.1(chr1:145688094-146046645)x1	Pathogenic

SpliceAI

805 predictions. Top by Δscore:

Variant	Effect	Δscore
1:145964407:G:GT	donor_gain	1.0000
1:145964375:GGCC:G	donor_gain	0.9900
1:145964383:G:GT	donor_gain	0.9900
1:145964445:A:T	donor_gain	0.9900
1:145964446:G:T	donor_gain	0.9900
1:145964334:GGA:G	donor_gain	0.9800
1:145964352:G:GG	donor_gain	0.9800
1:145964379:A:T	donor_gain	0.9800
1:145964419:G:T	donor_gain	0.9800
1:145961570:T:TA	donor_gain	0.9700
1:145962486:CCGCC:C	donor_gain	0.9600
1:145962487:TCCGC:T	donor_gain	0.9600
1:145964345:C:G	donor_gain	0.9600
1:145964462:C:T	donor_gain	0.9500
1:145962483:C:CT	donor_gain	0.9400
1:145964446:G:GT	donor_gain	0.9400
1:145964333:G:T	donor_gain	0.9300
1:145964333:GA:G	donor_gain	0.9300
1:145964501:ATTT:A	donor_gain	0.9300
1:145964332:A:G	donor_gain	0.9200
1:145964513:C:G	donor_gain	0.9200
1:145962482:C:CT	donor_gain	0.9000
1:145964420:G:GT	donor_gain	0.9000
1:145964443:C:G	donor_gain	0.9000
1:145964439:A:AG	donor_gain	0.8900
1:145964406:G:T	donor_gain	0.8800
1:145964544:TCGCA:T	donor_gain	0.8800
1:145962417:T:G	donor_loss	0.8700
1:145962418:GT:G	donor_loss	0.8700
1:145962419:GGT:G	donor_loss	0.8700

AlphaMissense

3119 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:145961329:A:T	I144N	1.000
1:145961332:A:T	I143N	1.000
1:145961329:A:C	I144S	0.999
1:145961329:A:G	I144T	0.999
1:145961332:A:C	I143S	0.999
1:145961332:A:G	I143T	0.999
1:145961335:A:C	I142S	0.999
1:145961335:A:T	I142N	0.999
1:145961371:A:G	L130P	0.999
1:145961470:A:T	L97H	0.999
1:145961518:A:T	L81H	0.999
1:145961539:T:A	D74V	0.999
1:145961689:A:G	L24P	0.999
1:145961285:A:C	Y159D	0.998
1:145961335:A:G	I142T	0.998
1:145961371:A:T	L130Q	0.998
1:145961407:G:T	A118D	0.998
1:145961408:C:G	A118P	0.998
1:145961416:A:T	L115H	0.998
1:145961419:G:T	A114D	0.998
1:145961437:T:A	D108V	0.998
1:145961540:C:A	D74Y	0.998
1:145961551:G:T	P70H	0.998
1:145961569:A:G	L64P	0.998
1:145961572:A:G	L63P	0.998
1:145961572:A:T	L63H	0.998
1:145961626:G:T	A45D	0.998
1:145961664:A:C	N32K	0.998
1:145961664:A:T	N32K	0.998
1:145961665:T:A	N32I	0.998

dbSNP variants (sampled 300 via entrez): RS1000857081 (1:145960130 T>C,G), RS1001289187 (1:145959756 G>A), RS1002308703 (1:145959646 T>C), RS1002339699 (1:145959413 C>T), RS1002522350 (1:145965570 T>G), RS1002963907 (1:145965833 T>C), RS1004576548 (1:145961223 C>A), RS1005515461 (1:145966546 G>A), RS1005849819 (1:145965008 T>C), RS1007072191 (1:145966153 C>A,G), RS1007186809 (1:145966371 G>A), RS1007403502 (1:145964605 G>A), RS1007930257 (1:145964895 C>G), RS1009110103 (1:145963187 T>C), RS1009492035 (1:145962912 T>C)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:274000, MIM:612474, MIM:181500, MIM:602390

GenCC curated gene-disease

Mondo (8): thrombocytopenia-absent radius syndrome (MONDO:0010121), cerebral palsy (MONDO:0006497), microcephaly (MONDO:0001149), breast ductal adenocarcinoma (MONDO:0005590), primary ovarian failure (MONDO:0005387), chromosome 1q21.1 deletion syndrome (MONDO:0012914), schizophrenia (MONDO:0005090), hemochromatosis type 2A (MONDO:0011216)

Orphanet (5): Thrombocytopenia-absent radius syndrome (Orphanet:3320), 1q21.1 microdeletion syndrome (Orphanet:250989), HJV or HAMP-related hemochromatosis (Orphanet:79230), NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619), NON RARE IN EUROPE: Schizophrenia (Orphanet:3140)

HPO phenotypes

3 total (3 of 3 shown, HPO-id order):

HPO	Term
HP:0100021	Cerebral palsy
HP:0000252	Microcephaly
HP:0100753	Schizophrenia

GWAS associations

0 associations (top):

MeSH disease descriptors (6)

Descriptor	Name	Tree numbers
D018270	Carcinoma, Ductal, Breast	C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390
D002547	Cerebral Palsy	C10.228.140.140.254
D008831	Microcephaly	C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500
D016649	Primary Ovarian Insufficiency	C12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750
C536940	Absent radii and thrombocytopenia (supp.)
C567291	Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
FR900359	decreases phosphorylation	1
triphenyl phosphate	affects expression	1
propionaldehyde	increases expression	1
arsenite	increases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
di-n-butylphosphoric acid	affects expression	1
glycidamide	decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	increases reaction, affects binding	1
MT19c compound	decreases expression	1
Temozolomide	decreases expression	1
Benzo(a)pyrene	decreases methylation, increases methylation	1
Cisplatin	decreases expression	1
Lipopolysaccharides	increases expression, affects response to substance	1
Melphalan	decreases expression	1
Methotrexate	decreases expression	1
Niclosamide	increases expression	1
Silicon Dioxide	decreases expression	1
Smoke	decreases expression	1
Triclosan	decreases expression	1
Urethane	increases expression	1
Aflatoxin B1	decreases methylation	1
Acrylamide	decreases expression	1
S-Nitrosoglutathione	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00154830	PHASE4	COMPLETED	Alterations of Functional Activities and Leg Stiffness After Hamstring Lengthening in Cerebral Palsy Children
NCT00432055	PHASE4	COMPLETED	Effects of Botulinum Toxin Type A in Adults With Cerebral Palsy
NCT00549471	PHASE4	TERMINATED	Improvement After Botulinum Toxin Injections to the Arms in Children With Cerebral Palsy
NCT00752934	PHASE4	TERMINATED	Does Oral Baclofen Improve Care and Comfort in Spastic Children in Nursing Homes?
NCT00964639	PHASE4	COMPLETED	Postoperative Pain in Children With Cerebral Palsy After Pelvic and Femoral Osteotomies
NCT01386255	PHASE4	WITHDRAWN	Placebo Controlled Study of Baclofen for GERD in Children With Cerebral Palsy
NCT02546999	PHASE4	COMPLETED	Does Botulinum Toxin A Make Walking Easier in Children With Cerebral Palsy?
NCT02633241	PHASE4	COMPLETED	A Pilot Study of Dexmedetomidine-Propofol in Children Undergoing Magnetic Resonance Imaging
NCT03117322	PHASE4	COMPLETED	Synbiotic, Prebiotics and Probiotics in Children With Cerebral Palsy and Constipation
NCT03648658	PHASE4	UNKNOWN	Paracetamol Study in Patients With Low Muscle Mass
NCT04074265	PHASE4	COMPLETED	Peri-operative Use of a Pain Injection in Pediatric Patients With Cerebral Palsy
NCT04273737	PHASE4	TERMINATED	Amantadine in Treating Cognitive & Motor Impairments in Adolescents and Adults With Cerebral Palsy
NCT04523935	PHASE4	COMPLETED	Excessive Crying in Children With Cerebral Palsy and Communication Deficits
NCT05887765	PHASE4	COMPLETED	Effect of Systematic Dexamethasone on the Duration of Popliteal Nerve Block for Anesthesia After Pediatric Ankle Surgery
NCT06176430	PHASE4	UNKNOWN	Comparison of Twice Weekly Versus Daily Iron Therapy in Treating Anemia in Children With Cerebral Palsy
NCT06189781	PHASE4	RECRUITING	Pain Injection Versus Epidural Anesthesia for Hip Surgery in Pediatric Patients With Cerebral Palsy
NCT00014989	PHASE3	COMPLETED	Beneficial Effects of Antenatal Magnesium Sulfate (BEAM Trial)
NCT00065949	PHASE3	UNKNOWN	Magnesium Sulfate to Prevent Brain Injury in Premature Infants
NCT00367068	PHASE3	COMPLETED	Dutch National ITB Study in Children With Cerebral Palsy
NCT00491894	PHASE3	COMPLETED	Safety and Efficacy Study of Oral Glycopyrrolate Liquid for the Treatment of Pathologic (Chronic Moderate to Severe) Drooling in Pediatric Patients 3 to 18 Years of Age With Cerebral Palsy or Other Neurologic Conditions
NCT00632528	PHASE3	COMPLETED	MEOPA to Improve Physical Therapy Results After Multilevel Surgery
NCT00822029	PHASE3	TERMINATED	Use of Oral Bisphosphonates in the Treatment of Osteoporosis of Non-walking Children With Cerebral Palsy
NCT00922077	PHASE3	COMPLETED	Individualized Neurodevelopmental Treatment
NCT01249417	PHASE3	COMPLETED	Dysport® Pediatric Lower Limb Spasticity Study
NCT01251380	PHASE3	COMPLETED	Dysport® Pediatric Lower Limb Spasticity Follow-on Study
NCT01437644	PHASE3	COMPLETED	The Post-Operative Pain in Cerebral Palsy (POPPIES) Trial
NCT01492608	PHASE3	COMPLETED	Magnesium Sulphate for Preterm Birth (MASP Study)
NCT01603602	PHASE3	COMPLETED	BOTOX® Treatment in Pediatric Upper Limb Spasticity
NCT01603615	PHASE3	COMPLETED	BOTOX® Open-Label Treatment in Pediatric Upper Limb Spasticity
NCT01603628	PHASE3	COMPLETED	BOTOX® Treatment in Pediatric Lower Limb Spasticity
NCT01603641	PHASE3	COMPLETED	BOTOX® Open-Label Treatment in Pediatric Lower Limb Spasticity
NCT01633736	PHASE3	UNKNOWN	Targeted Hip Strength Training in Children With Cerebral Palsy (CP)
NCT01898520	PHASE3	COMPLETED	A Safety, Efficacy and Tolerability Study of Sativex for the Treatment of Spasticity in Children Aged 8 to 18 Years
NCT01929434	PHASE3	COMPLETED	Efficacy of Stem Cell Transplantation Compared to Rehabilitation Treatment of Patients With Cerebral Paralysis
NCT02002884	PHASE3	COMPLETED	Dose-response Study of Efficacy and Safety of Botulinum Toxin Type A to Treat Spasticity of the Arm(s) or of Arm(s) and Leg(s) in Cerebral Palsy
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
NCT02839785	PHASE3	TERMINATED	Analgesia and Physiotherapy in Children With Cerebral Palsy (ANTALKINECP)
NCT03110341	PHASE3	UNKNOWN	Effect of Erythropoietin in Premature Infants on White Matter Lesions and Neurodevelopmental Outcome
NCT03302871	PHASE3	COMPLETED	Integrated Management Enhances Functional Gains in Children With Cerebral Palsy Treated by BoNT-A
NCT03306212	PHASE3	COMPLETED	Efficacy of Intermittent Serial Casting on Spastic Wrist Flexion Deformity