DNHD1

Summary

DNHD1 (dynein heavy chain domain 1, HGNC:26532) is a protein-coding gene on chromosome 11p15.4, encoding Dynein heavy chain domain-containing protein 1 (Q96M86). Essential for the normal assembly and function of sperm flagella axonemes.

Predicted to enable dynein intermediate chain binding activity; dynein light intermediate chain binding activity; and minus-end-directed microtubule motor activity. Involved in sperm flagellum assembly. Located in sperm flagellum. Implicated in spermatogenic failure 65.

Source: NCBI Gene 144132 — RefSeq curated summary.

At a glance

• Gene–disease (curated): spermatogenic failure 65 (Strong, GenCC)
• GWAS associations: 4
• Clinical variants (ClinVar): 1,080 total — 21 pathogenic, 26 likely-pathogenic
• Phenotypes (HPO): 18
• MANE Select transcript: NM_144666

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26532
Approved symbol	DNHD1
Name	dynein heavy chain domain 1
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Aliases	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796
Ensembl gene	ENSG00000179532
Ensembl biotype	protein_coding
OMIM	617277
Entrez	144132

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 11 retained_intron, 4 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000254579, ENST00000354685, ENST00000472080, ENST00000473019, ENST00000477562, ENST00000524401, ENST00000525080, ENST00000525883, ENST00000526027, ENST00000527143, ENST00000529821, ENST00000530197, ENST00000531903, ENST00000532027, ENST00000532467, ENST00000533635, ENST00000533649, ENST00000534210

RefSeq mRNA: 2 — MANE Select: NM_144666 NM_144666, NM_173589

CCDS: CCDS44532, CCDS7767

Canonical transcript exons

ENST00000254579 — 43 exons

Exon	Start	End
ENSE00001129430	6544792	6547666
ENSE00001318944	6533681	6534173
ENSE00001407177	6508880	6509083
ENSE00001416023	6497280	6497331
ENSE00001416919	6566241	6566393
ENSE00001428744	6548645	6548933
ENSE00001605950	6497771	6498961
ENSE00001611443	6558485	6558693
ENSE00001627247	6563693	6564124
ENSE00001656748	6528522	6528787
ENSE00001685990	6548210	6548402
ENSE00001714524	6547863	6548040
ENSE00001721358	6556683	6558297
ENSE00001753137	6519965	6520102
ENSE00001788725	6528878	6529121
ENSE00001801348	6558902	6559106
ENSE00002187313	6520238	6520289
ENSE00003474650	6570247	6570396
ENSE00003486242	6570618	6571423
ENSE00003493641	6566587	6566765
ENSE00003512158	6509162	6509272
ENSE00003524917	6539876	6540083
ENSE00003528558	6566895	6567860
ENSE00003530835	6562982	6563131
ENSE00003533315	6565695	6565991
ENSE00003556212	6511273	6511429
ENSE00003580207	6564333	6564804
ENSE00003580598	6519600	6519854
ENSE00003584265	6533027	6533184
ENSE00003586347	6544121	6544246
ENSE00003590809	6568665	6568866
ENSE00003593808	6497585	6497667
ENSE00003601754	6502753	6502926
ENSE00003604569	6563382	6563564
ENSE00003605548	6559181	6559283
ENSE00003616486	6539219	6539313
ENSE00003617524	6538383	6538510
ENSE00003630707	6568454	6568576
ENSE00003638487	6570009	6570100
ENSE00003657398	6538612	6538810
ENSE00003660340	6544574	6544671
ENSE00003674442	6571636	6572020
ENSE00003684118	6568056	6568242

Expression profiles

Bgee: expression breadth ubiquitous, 178 present calls, max score 94.52.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1789 / max 50.0704, expressed in 74 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
112863	0.1290	45
206172	0.0499	28

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	94.52	gold quality
left testis	UBERON:0004533	94.35	gold quality
sural nerve	UBERON:0015488	90.24	gold quality
testis	UBERON:0000473	90.23	gold quality
right lobe of liver	UBERON:0001114	87.71	gold quality
right uterine tube	UBERON:0001302	86.87	gold quality
granulocyte	CL:0000094	85.28	gold quality
small intestine Peyer’s patch	UBERON:0003454	85.19	gold quality
mucosa of stomach	UBERON:0001199	84.80	gold quality
bone marrow cell	CL:0002092	84.49	gold quality
spleen	UBERON:0002106	84.42	gold quality
right hemisphere of cerebellum	UBERON:0014890	84.13	gold quality
tibial nerve	UBERON:0001323	84.08	gold quality
muscle layer of sigmoid colon	UBERON:0035805	83.92	gold quality
cerebellar hemisphere	UBERON:0002245	83.30	gold quality
cerebellar cortex	UBERON:0002129	83.12	gold quality
right ovary	UBERON:0002118	82.70	gold quality
left uterine tube	UBERON:0001303	82.68	gold quality
small intestine	UBERON:0002108	82.31	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	82.28	gold quality
apex of heart	UBERON:0002098	82.25	gold quality
tibialis anterior	UBERON:0001385	82.12	silver quality
right adrenal gland cortex	UBERON:0035827	81.96	gold quality
transverse colon	UBERON:0001157	81.95	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	81.94	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	81.91	gold quality
body of uterus	UBERON:0009853	81.87	gold quality
left ovary	UBERON:0002119	81.82	gold quality
right lung	UBERON:0002167	81.81	gold quality
lower esophagus muscularis layer	UBERON:0035833	81.76	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.55
E-CURD-11	no	60.29

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 2)

• Bi-allelic variants in DNHD1 cause flagellar axoneme defects and asthenoteratozoospermia in humans and mice. (PMID:34932939)
• New Mutations in DNHD1 Cause Multiple Morphological Abnormalities of the Sperm Flagella. (PMID:36768883)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	dnhd1	ENSDARG00000058416
mus_musculus	Dnhd1	ENSMUSG00000030882
rattus_norvegicus	Dnhd1	ENSRNOG00000051291

Paralogs (15): DNAH9 (ENSG00000007174), DNAH5 (ENSG00000039139), DNAH11 (ENSG00000105877), DNAH1 (ENSG00000114841), DNAH6 (ENSG00000115423), DNAH7 (ENSG00000118997), DNAH8 (ENSG00000124721), DNAH3 (ENSG00000158486), DNAH12 (ENSG00000174844), DNAH2 (ENSG00000183914), DNAH14 (ENSG00000185842), DYNC2H1 (ENSG00000187240), DNAH17 (ENSG00000187775), DYNC1H1 (ENSG00000197102), DNAH10 (ENSG00000197653)

Protein

Protein identifiers

Dynein heavy chain domain-containing protein 1 — Q96M86 (reviewed: Q96M86)

Alternative names: Coiled-coil domain-containing protein 35, Dynein heavy chain domain 1-like protein

All UniProt accessions (5): E9PJT4, E9PM64, Q96M86, J3KTE2, J3QRE5

UniProt curated annotations — full annotation on UniProt →

Function. Essential for the normal assembly and function of sperm flagella axonemes.

Subcellular location. Cell projection. Cilium. Flagellum.

Tissue specificity. Expressed in spermatozoa (at protein level).

Disease relevance. Spermatogenic failure 65 (SPGF65) [MIM:619712] An autosomal recessive male infertility disorder characterized by asthenoteratozoospermia. Progressive sperm motility is severely reduced or absent due to multiple morphologic abnormalities of the flagella. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the dynein heavy chain family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q96M86-3	1	yes
Q96M86-4	2
Q96M86-5	3

RefSeq proteins (2): NP_653267, NP_775860 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004273	Dhc_D6_P-loop	Domain
IPR013602	Dhc_linker	Domain
IPR024317	Dhc_D4	Domain
IPR024743	Dynein_HC_stalk	Domain
IPR026983	DHC	Family
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR035699	Dhc_AAA	Domain
IPR041228	Dhc_C	Domain
IPR041466	Dhc_AAA5_ext	Domain
IPR042222	Dynein_2_N	Homologous_superfamily
IPR042228	Dynein_linker_3	Homologous_superfamily

Pfam: PF03028, PF08393, PF12774, PF12775, PF12777, PF12780, PF17852, PF18199

UniProt features (40 total): sequence variant 21, compositionally biased region 5, coiled-coil region 5, region of interest 3, splice variant 3, sequence conflict 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

No AlphaFold model available for Q96M86 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 136 (showing top): MYOGENIN_Q6, WHITEHURST_PACLITAXEL_SENSITIVITY, GCANCTGNY_MYOD_Q6, GOBP_MALE_GAMETE_GENERATION, CAGCTG_AP4_Q5, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, GOMF_CYTOSKELETAL_MOTOR_ACTIVITY, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_ORGANELLE_ASSEMBLY, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOBP_MOTILE_CILIUM_ASSEMBLY, GOBP_CELL_PROJECTION_ORGANIZATION, AML1_01

GO Biological Process (3): flagellated sperm motility (GO:0030317), sperm flagellum assembly (GO:0120316), microtubule-based movement (GO:0007018)

GO Molecular Function (4): ATP binding (GO:0005524), minus-end-directed microtubule motor activity (GO:0008569), dynein intermediate chain binding (GO:0045505), dynein light intermediate chain binding (GO:0051959)

GO Cellular Component (7): sperm flagellum (GO:0036126), inner dynein arm (GO:0036156), extracellular exosome (GO:0070062), cilium (GO:0005929), dynein complex (GO:0030286), motile cilium (GO:0031514), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein binding	2
cilium-dependent cell motility	1
cilium movement involved in cell motility	1
sperm motility	1
developmental process involved in reproduction	1
spermatid development	1
flagellated sperm motility	1
motile cilium assembly	1
microtubule-based process	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
microtubule motor activity	1
9+2 motile cilium	1
axonemal dynein complex	1
extracellular vesicle	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
microtubule associated complex	1
catalytic complex	1
cilium	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1228 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DNHD1	C1orf159	Q96HA4	533
DNHD1	PTCD2	Q8WV60	490
DNHD1	ZNHIT2	Q9UHR6	485
DNHD1	OR1M1	Q8NGA1	474
DNHD1	FRMD8	Q9BZ67	473
DNHD1	ZNF106	Q9H2Y7	473
DNHD1	BOD1L1	Q8NFC6	466
DNHD1	STARD9	Q9P2P6	462
DNHD1	FRRS1L	Q9P0K9	461
DNHD1	PRRC1	Q96M27	454
DNHD1	DDX31	Q9H8H2	447
DNHD1	KRTAP10-6	P60371	446
DNHD1	SSH2	Q76I76	444
DNHD1	KIF18A	Q8NI77	443
DNHD1	DHX29	Q7Z478	439

IntAct

8 interactions, top by confidence:

A	B	Type	Score
DNHD1	PDIA6	psi-mi:“MI:0915”(physical association)	0.400
DNHD1	RPL30	psi-mi:“MI:0915”(physical association)	0.400
DNHD1	HSPA5	psi-mi:“MI:0915”(physical association)	0.400
DYRK1A	TEX13D	psi-mi:“MI:0914”(association)	0.350
ATG16L1	ESYT2	psi-mi:“MI:0914”(association)	0.350
DNHD1	CETN2	psi-mi:“MI:0914”(association)	0.350
NUDCD1	FUOM	psi-mi:“MI:0914”(association)	0.350

BioGRID (20): DNHD1 (Affinity Capture-RNA), DNHD1 (Affinity Capture-RNA), DNHD1 (Affinity Capture-MS), DNHD1 (Affinity Capture-MS), DNHD1 (Proximity Label-MS), DNHD1 (Proximity Label-MS), DNHD1 (Proximity Label-MS), GCKR (Affinity Capture-MS), CETN2 (Affinity Capture-MS), DNHD1 (Reconstituted Complex), DNHD1 (Affinity Capture-MS), DNHD1 (Affinity Capture-MS), KTN1 (Cross-Linking-MS (XL-MS)), DNHD1 (Protein-peptide), DNHD1 (Co-fractionation)

ESM2 similar proteins: A1IGU3, A1IGU4, A1IGU5, A5D8V7, A5PK16, A6QP29, A7E3N7, A8K8P3, A9CB34, B0KWR6, B5DFA1, D3ZI76, G3HQ82, O73770, P0C7M6, P41002, Q14129, Q14DK4, Q15051, Q3SYS7, Q3UK37, Q3UZY0, Q5SNV9, Q5SXM2, Q60953, Q60I26, Q60I27, Q69ZT1, Q6NUI2, Q8BP00, Q8BP86, Q8C1F5, Q8C2K1, Q8CJ00, Q8IV45, Q8NCU4, Q8NE28, Q8NEE8, Q8TE82, Q95KD7

Diamond homologs: D3Z2X2, Q96M86

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

1080 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	21
Likely pathogenic	26
Uncertain significance	727
Likely benign	161
Benign	71

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1073290	NC_000011.9:g.(?6559613)(6640631_?)del	Pathogenic
1334452	NM_144666.3(DNHD1):c.8909A>G (p.Tyr2970Cys)	Pathogenic
1334453	NM_144666.3(DNHD1):c.522_525del (p.Arg174fs)	Pathogenic
1505775	NM_144666.3(DNHD1):c.10624C>T (p.Arg3542Ter)	Pathogenic
2044889	NM_144666.3(DNHD1):c.10078G>T (p.Glu3360Ter)	Pathogenic
2049498	NM_144666.3(DNHD1):c.2260del (p.Gln754fs)	Pathogenic
2064312	NM_144666.3(DNHD1):c.3310C>T (p.Gln1104Ter)	Pathogenic
2066214	NM_144666.3(DNHD1):c.13206del (p.Ala4403fs)	Pathogenic
2070246	NM_144666.3(DNHD1):c.12489G>A (p.Trp4163Ter)	Pathogenic
2076742	NM_144666.3(DNHD1):c.3523del (p.His1175fs)	Pathogenic
2082769	NM_144666.3(DNHD1):c.13492_13493dup (p.Leu4499fs)	Pathogenic
2083867	NM_144666.3(DNHD1):c.1387C>T (p.Arg463Ter)	Pathogenic
2147164	NM_144666.3(DNHD1):c.6194del (p.Cys2065fs)	Pathogenic
2158564	NM_144666.3(DNHD1):c.11370_11371insCTAG (p.Val3791fs)	Pathogenic
2172656	NM_144666.3(DNHD1):c.2301del (p.Gly768fs)	Pathogenic
2186886	NM_144666.3(DNHD1):c.13612C>T (p.Arg4538Ter)	Pathogenic
2193620	NM_144666.3(DNHD1):c.3258C>A (p.Tyr1086Ter)	Pathogenic
2195542	NM_144666.3(DNHD1):c.9045del (p.Ile3016fs)	Pathogenic
2195675	NM_144666.3(DNHD1):c.13195G>T (p.Glu4399Ter)	Pathogenic
2196016	NM_144666.3(DNHD1):c.8104G>T (p.Glu2702Ter)	Pathogenic
2197413	NM_144666.3(DNHD1):c.13441_13447del (p.Leu4481fs)	Pathogenic
1334449	NM_144666.3(DNHD1):c.5560C>T (p.Arg1854Cys)	Likely pathogenic
1334454	NM_144666.3(DNHD1):c.911G>A (p.Arg304Gln)	Likely pathogenic
1693246	NM_144666.3(DNHD1):c.9649C>T (p.Arg3217Ter)	Likely pathogenic
1693248	NM_144666.3(DNHD1):c.4141C>T (p.Gln1381Ter)	Likely pathogenic
1693249	NM_144666.3(DNHD1):c.12453G>A (p.Trp4151Ter)	Likely pathogenic
2042233	NM_144666.3(DNHD1):c.10757-2A>G	Likely pathogenic
2052956	NM_144666.3(DNHD1):c.1838-1G>A	Likely pathogenic
2163362	NM_144666.3(DNHD1):c.12662-2A>C	Likely pathogenic
2169131	NM_144666.3(DNHD1):c.12864-1G>A	Likely pathogenic

SpliceAI

8393 predictions. Top by Δscore:

Variant	Effect	Δscore
11:6502914:GCCG:G	donor_gain	1.0000
11:6509050:T:G	donor_gain	1.0000
11:6509160:A:AG	acceptor_gain	1.0000
11:6509161:G:GG	acceptor_gain	1.0000
11:6511425:GACTG:G	donor_gain	1.0000
11:6511426:ACTGG:A	donor_loss	1.0000
11:6511427:CTGGT:C	donor_loss	1.0000
11:6511430:G:GC	donor_loss	1.0000
11:6511430:G:GG	donor_gain	1.0000
11:6511431:T:G	donor_loss	1.0000
11:6519816:G:GT	donor_gain	1.0000
11:6519855:G:GG	donor_gain	1.0000
11:6528520:A:AG	acceptor_gain	1.0000
11:6528521:G:GG	acceptor_gain	1.0000
11:6534230:G:GG	donor_gain	1.0000
11:6538610:A:AG	acceptor_gain	1.0000
11:6538610:AG:A	acceptor_loss	1.0000
11:6538611:G:GT	acceptor_gain	1.0000
11:6538611:GT:G	acceptor_gain	1.0000
11:6538611:GTT:G	acceptor_gain	1.0000
11:6538611:GTTC:G	acceptor_gain	1.0000
11:6538611:GTTCA:G	acceptor_gain	1.0000
11:6538728:G:GT	donor_gain	1.0000
11:6538806:GCGTG:G	donor_gain	1.0000
11:6538808:GTG:G	donor_gain	1.0000
11:6538811:G:GG	donor_gain	1.0000
11:6539217:A:AG	acceptor_gain	1.0000
11:6539218:G:GG	acceptor_gain	1.0000
11:6548371:G:GT	donor_gain	1.0000
11:6548725:G:T	donor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000009798 (11:6545416 C>A), RS1000045798 (11:6553716 G>A), RS1000101238 (11:6517164 T>A), RS1000103635 (11:6548011 C>G), RS1000113842 (11:6505253 T>C), RS1000181846 (11:6551724 C>CGT), RS1000248056 (11:6557978 A>G), RS1000252140 (11:6523424 G>A), RS1000345833 (11:6523711 G>C), RS1000376555 (11:6559602 A>C,T), RS1000424675 (11:6520555 C>G), RS1000469363 (11:6520283 T>C,G), RS1000494723 (11:6500061 T>G), RS1000506532 (11:6543151 G>A), RS1000541990 (11:6550135 T>C,G)

Disease associations

OMIM: gene MIM:617277 | disease phenotypes: MIM:619712, MIM:190300

GenCC curated gene-disease

Disease	Classification	Inheritance
spermatogenic failure 65	Strong	Autosomal recessive

Mondo (2): spermatogenic failure 65 (MONDO:0030531), essential tremor (MONDO:0003233)

Orphanet (2): Male infertility with spermatogenesis disorder (Orphanet:399775), NON RARE IN EUROPE: Hereditary essential tremor (Orphanet:862)

HPO phenotypes

18 total (18 of 18 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000027	Azoospermia
HP:0000118	Phenotypic abnormality
HP:0000798	Oligozoospermia
HP:0000837	Increased circulating gonadotropin level
HP:0003251	Male infertility
HP:0008669	Abnormal spermatogenesis
HP:0008734	Decreased testicular size
HP:0011462	Young adult onset
HP:0011961	Non-obstructive azoospermia
HP:0011962	Obstructive azoospermia
HP:0012207	Reduced sperm motility
HP:0012867	Abnormal sperm mid-piece morphology
HP:0032558	Absent sperm flagella
HP:0032559	Short sperm flagella
HP:0032560	Coiled sperm flagella
HP:0033393	Irregularly shaped sperm tail
HP:0034011	Reduced progressive sperm motility

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST002058_3	DNA methylation (variation)	5.000000e-06
GCST010725_20	Malaria	4.000000e-69
GCST010725_33	Malaria	2.000000e-67
GCST010725_51	Malaria	1.000000e-55

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0022599	DNA methylation

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D020329	Essential Tremor	C10.228.662.350

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, decreases expression, increases methylation	5
bisphenol A	affects cotreatment, affects methylation, decreases methylation, decreases expression	2
aristolochic acid I	increases expression	1
GSK-J4	decreases expression	1
6,7-dimethoxy-2-(pyrrolidin-1-yl)-N-(5-(pyrrolidin-1-yl)pentyl)quinazolin-4-amine	increases expression	1
FR900359	decreases phosphorylation	1
dicrotophos	increases expression	1
bufotalin	decreases expression	1
triphenyl phosphate	affects expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
beta-lapachone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases expression	1
potassium chromate(VI)	affects cotreatment, increases expression	1
epigallocatechin gallate	increases expression, affects cotreatment	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
clothianidin	decreases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	affects cotreatment, decreases expression	1
Sunitinib	increases expression	1
Fulvestrant	affects cotreatment, affects methylation	1
Vorinostat	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	increases methylation	1
Dexamethasone	decreases expression, affects cotreatment	1
Diethylhexyl Phthalate	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00439699	PHASE4	COMPLETED	A Pilot Clinical Trial Of Memantine for Essential Tremor
NCT00584376	PHASE4	COMPLETED	Pregabalin (Lyrica) for the Treatment of Essential Tremor
NCT00998660	PHASE4	COMPLETED	RECHARGE Sub-Study to the Implantable Systems Performance Registry (ISPR)
NCT02111369	PHASE4	COMPLETED	Propranolol and Botulinum Toxin for Essential Vocal Tremor
NCT02495883	PHASE4	COMPLETED	Functional Imaging of Tremor Circuits and Mechanisms of Treatment Response
NCT00018564	PHASE3	COMPLETED	Novel Therapies for Essential Tremor
NCT00236496	PHASE3	COMPLETED	A Comparison of the Efficacy and Safety of Topiramate Versus Placebo in Treating Tremor of Unknown Cause.
NCT01441284	PHASE3	WITHDRAWN	Efficacy of Pramipexole Extended Release in the Treatment of Essential Tremor
NCT04193527	PHASE3	COMPLETED	A Study to Evaluate the Diagnostic Efficacy of DaTSCAN™ Ioflupane (123I) Injection in Single Photon Emission Computed Tomography (SPECT) for the Diagnosis of Parkinsonian Syndrome (PS) in Chinese Patients
NCT04265209	PHASE3	COMPLETED	[18F] LBT-999 PET Compared to [123I]-FP/CIT SPECT to Distinguish Between Parkinson’s Diseases and Essential Tremor
NCT06087276	PHASE3	ENROLLING_BY_INVITATION	Essential 3 - Decentralized, Phase 3 Study Evaluating the Safety and Efficacy of Ulixacaltamide in Essential Tremor (ET)
NCT00080366	PHASE2	COMPLETED	Octanol to Treat Essential Tremor
NCT00102596	PHASE2	COMPLETED	Clinical Trial Characterizing the Bioavailability of 1-Octanol in Adults With Ethanol-responsive Essential Tremor
NCT00223743	PHASE2	COMPLETED	A Safety/Efficacy Trial of Zonisamide for Essential Tremor
NCT00321087	PHASE2	TERMINATED	A Study of T2000 in Essential Tremor
NCT00598078	PHASE2	COMPLETED	Multiple-dose,Double-blind,Placebo-controlled Study of Sodium Oxybate in Patients With Essential Tremor
NCT00655278	PHASE2	TERMINATED	T2000 in Essential Tremor - Open Label Continuation
NCT01332695	PHASE2	COMPLETED	A Pilot Efficacy and Safety Study of ST101 in Essential Tremor
NCT02277106	PHASE2	COMPLETED	Evaluate SAGE-547 in Participants With Essential Tremor
NCT02551848	PHASE2	UNKNOWN	Kinematic-based BoNT-A Injections for Bilateral ET
NCT02668146	PHASE2	UNKNOWN	An Efficacy/Safety Study of Perampanel for Reducing Essential Tremor
NCT02978781	PHASE2	COMPLETED	A Study to Evaluate SAGE-217 in Participants With Essential Tremor
NCT03101241	PHASE2	COMPLETED	A Phase 2 RCT Study of CX-8998 for Essential Tremor
NCT03688685	PHASE2	COMPLETED	A Clinical Study to Evaluate CAD-1883 in Essential Tremor
NCT03780426	PHASE2	COMPLETED	tSMS in Essential Tremor
NCT04305275	PHASE2	COMPLETED	A Study to Evaluate the Efficacy, Safety, and Tolerability of SAGE-324 in Participants With Essential Tremor
NCT04727658	PHASE2	TERMINATED	Linac FRACtionated Radiosurgical THALamotomie in Tremors (FRACTHAL)
NCT04880616	PHASE2	COMPLETED	Safety, Efficacy, and Tolerability of NBI-827104 for the Treatment of Essential Tremor
NCT05021978	PHASE2	COMPLETED	A Clinical Trial of PRAX-944 in Participants With Essential Tremor
NCT05021991	PHASE2	COMPLETED	A Clinical Trial of 2 Doses of PRAX-944 in Participants With Essential Tremor
NCT05122650	PHASE2	COMPLETED	A Study To Assess the Safety and Efficacy of JZP385 in the Treatment of Adults With Moderate to Severe Essential Tremor (ET)
NCT05173012	PHASE2	COMPLETED	Study to Evaluate SAGE-324 in Participants With Essential Tremor
NCT05387642	PHASE2	WITHDRAWN	A Clinical Trial of PRAX-114 in Participants With Essential Tremor
NCT06312800	PHASE2	WITHDRAWN	Acamprosate and Methazolamide for Essential Tremor
NCT06821906	PHASE2	RECRUITING	Stereotactic Radiosurgery in the Treatment of Essential Tremor
NCT07074002	PHASE2	RECRUITING	Proof of Concept Study on BP1.4979 Effect on Essential Tremor
NCT07103265	PHASE2	NOT_YET_RECRUITING	Developing a New LIFU Neuromodulation Method to Suppress Tremor
NCT00001986	PHASE1	COMPLETED	1-Octanol to Treat Essential Tremor
NCT00016679	PHASE1	COMPLETED	1-Octanol to Treat Essential Tremor
NCT01304758	PHASE1	COMPLETED	ExAblate Transcranial MR Guided Focused Ultrasound in the Treatment of Essential Tremor