DPH5

Summary

DPH5 (diphthamide biosynthesis 5, HGNC:24270) is a protein-coding gene on chromosome 1p21.2, encoding Diphthine methyl ester synthase (Q9H2P9). S-adenosyl-L-methionine-dependent methyltransferase that catalyzes four methylations of the modified target histidine residue in translation elongation factor 2 (EF-2), to form an intermediate called diphthine methyl ester.

This gene encodes a component of the diphthamide synthesis pathway. Diphthamide is a post-translationally modified histidine residue found only on translation elongation factor 2. It is conserved from archaebacteria to humans, and is targeted by diphtheria toxin and Pseudomonas exotoxin A to halt cellular protein synthesis. The yeast and Chinese hamster homologs of this protein catalyze the trimethylation of the histidine residue on elongation factor 2, resulting in a diphthine moiety that is subsequently amidated to yield diphthamide. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 51611 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties (Strong, GenCC)
• GWAS associations: 2
• Clinical variants (ClinVar): 49 total — 2 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 51
• MANE Select transcript: NM_015958

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24270
Approved symbol	DPH5
Name	diphthamide biosynthesis 5
Location	1p21.2
Locus type	gene with protein product
Status	Approved
Aliases	CGI-30
Ensembl gene	ENSG00000117543
Ensembl biotype	protein_coding
OMIM	611075
Entrez	51611

Gene structure

Transcript identifiers

Ensembl transcripts: 31 — 19 protein_coding, 11 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000342173, ENST00000370105, ENST00000370109, ENST00000427040, ENST00000464270, ENST00000466807, ENST00000476507, ENST00000477293, ENST00000481871, ENST00000481982, ENST00000488176, ENST00000488789, ENST00000490732, ENST00000492067, ENST00000498372, ENST00000690716, ENST00000889720, ENST00000889721, ENST00000889722, ENST00000889723, ENST00000889724, ENST00000889725, ENST00000889726, ENST00000889727, ENST00000934681, ENST00000934682, ENST00000934683, ENST00000934684, ENST00000934685, ENST00000934686, ENST00000950006

RefSeq mRNA: 3 — MANE Select: NM_015958 NM_001077394, NM_001077395, NM_015958

CCDS: CCDS41358, CCDS41359

Canonical transcript exons

ENST00000370109 — 8 exons

Exon	Start	End
ENSE00001884314	101025683	101025784
ENSE00003463741	100989623	100990631
ENSE00003483636	101025309	101025466
ENSE00003564931	100995110	100995149
ENSE00003575411	101021641	101021765
ENSE00003603023	101001467	101001587
ENSE00003659612	101013710	101013818
ENSE00003694217	100992637	100992740

Expression profiles

Bgee: expression breadth ubiquitous, 286 present calls, max score 94.96.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 27.9390 / max 823.0704, expressed in 1800 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
13535	25.9977	1795
13536	1.0130	671
13534	0.5552	287
13537	0.3319	162
13538	0.0411	11

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
body of pancreas	UBERON:0001150	94.96	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	94.63	gold quality
left ovary	UBERON:0002119	94.42	gold quality
buccal mucosa cell	CL:0002336	94.36	gold quality
ovary	UBERON:0000992	94.19	gold quality
right adrenal gland	UBERON:0001233	93.94	gold quality
ganglionic eminence	UBERON:0004023	93.85	gold quality
cortical plate	UBERON:0005343	93.74	gold quality
right adrenal gland cortex	UBERON:0035827	93.73	gold quality
right ovary	UBERON:0002118	92.94	gold quality
tibialis anterior	UBERON:0001385	92.87	silver quality
ventricular zone	UBERON:0003053	92.84	gold quality
left adrenal gland	UBERON:0001234	92.58	gold quality
pancreas	UBERON:0001264	92.58	gold quality
left adrenal gland cortex	UBERON:0035825	92.39	gold quality
myocardium	UBERON:0002349	92.16	gold quality
adrenal cortex	UBERON:0001235	92.15	gold quality
left ventricle myocardium	UBERON:0006566	92.08	gold quality
islet of Langerhans	UBERON:0000006	91.89	gold quality
adrenal gland	UBERON:0002369	91.74	gold quality
stromal cell of endometrium	CL:0002255	91.70	gold quality
embryo	UBERON:0000922	91.52	gold quality
adrenal tissue	UBERON:0018303	91.48	gold quality
upper leg skin	UBERON:0004262	91.44	gold quality
cardiac muscle of right atrium	UBERON:0003379	91.36	gold quality
mucosa of urinary bladder	UBERON:0001259	91.34	gold quality
deltoid	UBERON:0001476	91.33	gold quality
heart left ventricle	UBERON:0002084	91.25	gold quality
granulocyte	CL:0000094	91.22	gold quality
cardiac ventricle	UBERON:0002082	91.19	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.32
E-MTAB-6524	no	198.12

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

41 targeting DPH5, 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-568	99.98	69.86	2084
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
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-4697-3P	99.89	67.09	1123
HSA-MIR-2681-5P	99.75	67.64	1655
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-29B-2-5P	99.67	68.98	1726
HSA-MIR-4527	99.66	67.43	714
HSA-MIR-6503-5P	99.62	66.96	597
HSA-MIR-4743-3P	99.62	68.12	2095
HSA-MIR-3682-3P	99.58	67.63	865
HSA-MIR-5584-5P	99.49	68.22	2814
HSA-MIR-889-5P	99.41	68.75	1025
HSA-MIR-135A-5P	99.36	71.85	1601
HSA-MIR-135B-5P	99.36	71.63	1613
HSA-MIR-4652-3P	99.33	70.02	2742
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-5587-5P	99.07	68.58	838
HSA-MIR-10B-3P	99.04	66.98	988
HSA-MIR-9898	99.00	67.89	500
HSA-MIR-4755-3P	98.77	65.59	1915

Literature-anchored findings (GeneRIF, showing 1)

• The yeast and Chinese hamster homologs of human DPH5 catalyze the trimethylation step in the biosynthesis of diphthamide (PMID:15485916)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	dph5	ENSDARG00000100242
mus_musculus	Dph5	ENSMUSG00000033554
rattus_norvegicus	Dph5	ENSRNOG00000013719
drosophila_melanogaster	Dph5	FBGN0024558
caenorhabditis_elegans		WBGENE00007194

Protein

Protein identifiers

Diphthine methyl ester synthase — Q9H2P9 (reviewed: Q9H2P9)

Alternative names: Diphthamide biosynthesis methyltransferase

All UniProt accessions (2): Q9H2P9, Q96DC6

UniProt curated annotations — full annotation on UniProt →

Function. S-adenosyl-L-methionine-dependent methyltransferase that catalyzes four methylations of the modified target histidine residue in translation elongation factor 2 (EF-2), to form an intermediate called diphthine methyl ester. The four successive methylation reactions represent the second step of diphthamide biosynthesis.

Disease relevance. Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties (NEDSFF) [MIM:620070] An autosomal recessive disorder characterized by distinct craniofacial features, multisystem dysfunction, profound neurodevelopmental delays, and neonatal death. The disease is caused by variants affecting the gene represented in this entry.

Pathway. Protein modification; peptidyl-diphthamide biosynthesis.

Similarity. Belongs to the diphthine synthase family.

Isoforms (6)

UniProt ID	Names	Canonical?
Q9H2P9-1	1	yes
Q9H2P9-2	2
Q9H2P9-3	3
Q9H2P9-4	4
Q9H2P9-5	5
Q9H2P9-6	6

RefSeq proteins (3): NP_001070862, NP_001070863, NP_057042* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000878	4pyrrol_Mease	Domain
IPR004551	Dphthn_synthase	Family
IPR014776	4pyrrole_Mease_sub2	Homologous_superfamily
IPR014777	4pyrrole_Mease_sub1	Homologous_superfamily
IPR035996	4pyrrol_Methylase_sf	Homologous_superfamily

Pfam: PF00590

Enzyme classification (BRENDA):

• EC 2.1.1.314 — diphthine methyl ester synthase (BRENDA: 5 organisms, 9 substrates, 0 inhibitors, 0 Km, 0 kcat entries)

Catalyzed reactions (Rhea), 1 shown:

• 2-[(3S)-amino-3-carboxypropyl]-L-histidyl-[translation elongation factor 2] + 4 S-adenosyl-L-methionine = diphthine methyl ester-[translation elongation factor 2] + 4 S-adenosyl-L-homocysteine + 3 H(+) (RHEA:42652)

UniProt features (19 total): binding site 7, splice variant 5, sequence variant 3, sequence conflict 2, chain 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H2P9-F1	92.20	0.81

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (7): 9; 84; 87; 112–113; 163; 225; 250

Post-translational modifications (1): 171

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-5358493	Synthesis of diphthamide-EEF2

MSigDB gene sets: 319 (showing top): CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, BLALOCK_ALZHEIMERS_DISEASE_UP, OCT1_03, WTGAAAT_UNKNOWN, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, DODD_NASOPHARYNGEAL_CARCINOMA_UP, GATA2_01, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, ACEVEDO_LIVER_CANCER_UP, GOBP_METHYLATION, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR, chr1p21, OSMAN_BLADDER_CANCER_DN, NUYTTEN_EZH2_TARGETS_DN, GRYDER_PAX3FOXO1_TOP_ENHANCERS

GO Biological Process (2): protein histidyl modification to diphthamide (GO:0017183), methylation (GO:0032259)

GO Molecular Function (4): diphthine methyl ester synthase activity (GO:0141133), diphthine synthase activity (GO:0004164), methyltransferase activity (GO:0008168), transferase activity (GO:0016740)

GO Cellular Component (1): cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Gamma carboxylation, hypusinylation, hydroxylation, and arylsulfatase activation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein methyltransferase activity	2
S-adenosylmethionine-dependent methyltransferase activity	2
peptidyl-histidine modification	1
metabolic process	1
transferase activity, transferring one-carbon groups	1
catalytic activity	1
cytoplasm	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1548 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DPH5	DPH2	Q9BQC3	994
DPH5	DPH1	Q9BZG8	980
DPH5	EEF2	P13639	930
DPH5	DPH7	Q9BTV6	874
DPH5	DPH3	Q96FX2	856
DPH5	DPH6	Q7L8W6	839
DPH5	DNAJC24	Q6P3W2	810
DPH5	RTCA	O00442	614
DPH5	ENOSF1	Q7L5Y1	579
DPH5	ARMC9	Q7Z3E5	569
DPH5	ELP5	Q8TE02	551
DPH5	LRRC39	Q96DD0	537
DPH5	RIDA	P52758	493
DPH5	MOB3C	Q70IA8	493
DPH5	TMEM14C	Q9P0S9	458

IntAct

5 interactions, top by confidence:

A	B	Type	Score
	NHERF1	psi-mi:“MI:0914”(association)	0.530
LRRK2		psi-mi:“MI:0914”(association)	0.350

BioGRID (34): DPH5 (Affinity Capture-RNA), DPH5 (Affinity Capture-RNA), DPH5 (Affinity Capture-RNA), C12orf10 (Co-fractionation), CD2AP (Co-fractionation), DPH5 (Co-fractionation), DPH5 (Co-fractionation), DPH5 (Co-fractionation), GCLC (Co-fractionation), NMD3 (Co-fractionation), PARVA (Co-fractionation), SPG20 (Co-fractionation), ZYX (Co-fractionation), DPH5 (Synthetic Lethality), DPH5 (Proximity Label-MS)

ESM2 similar proteins: A0A0K9RL25, A0A0U1WZ18, A0A1S4A695, B9N1F9, O15305, O35621, O80840, O88958, O97555, O97556, P21856, P31150, P46926, P50396, P50398, P50399, P60028, P78330, Q16HW7, Q1W374, Q1W375, Q1W376, Q1W377, Q259G4, Q2KHU0, Q3SZJ9, Q3UFY7, Q4R7R3, Q5E982, Q5R8T8, Q5RB83, Q5ZID6, Q5ZKF6, Q60HD6, Q61598, Q64422, Q6AYP7, Q6Q7J2, Q7SYN4, Q7XPW5

Diamond homologs: A0B879, A1RU15, A2SQF6, A3CWF9, A3DLV7, A4FYP1, A4YHI8, A6US81, A6UU49, A6VJP1, A7IA21, A9A6D8, B0R4W9, B1YAU2, B6YXP9, B8GIF8, B9LV13, C3MPQ5, C3MYP9, C3N5D1, C3NDY5, C3NHR8, C4KGZ7, C5A3K4, O27902, O29866, O58456, O74898, O81769, P0CU37, P32469, Q0W085, Q12XB4, Q18JS3, Q2FQ45, Q2NFJ8, Q3IS55, Q467Z4, Q4HZI0, Q58670

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
DPH5	“down-regulates activity”	EEF2	methylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	1
Uncertain significance	33
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
1708533	NM_015958.3(DPH5):c.619C>T (p.Arg207Ter)	Pathogenic
1708534	NM_015958.3(DPH5):c.329A>G (p.Asn110Ser)	Pathogenic
4849473	NM_015958.3(DPH5):c.260+1G>T	Likely pathogenic

SpliceAI

1371 predictions. Top by Δscore:

Variant	Effect	Δscore
1:101021634:GACTT:G	donor_loss	1.0000
1:101021635:ACTTA:A	donor_loss	1.0000
1:101021636:CTTAC:C	donor_loss	1.0000
1:101021637:TTA:T	donor_loss	1.0000
1:101021638:T:TG	donor_loss	1.0000
1:101021640:C:T	donor_loss	1.0000
1:101021781:CAA:C	acceptor_gain	1.0000
1:101021782:A:T	acceptor_gain	1.0000
1:101025316:T:TA	donor_gain	1.0000
1:101025321:C:A	donor_gain	1.0000
1:100990629:CTG:C	acceptor_gain	0.9900
1:100995103:AACT:A	acceptor_loss	0.9900
1:100995104:ACTT:A	acceptor_loss	0.9900
1:100995105:CTT:C	acceptor_loss	0.9900
1:100995106:TTAC:T	acceptor_loss	0.9900
1:100995107:TACT:T	acceptor_loss	0.9900
1:100995108:A:AC	donor_gain	0.9900
1:100995108:ACTT:A	acceptor_loss	0.9900
1:100995109:C:CC	donor_gain	0.9900
1:100995109:C:T	acceptor_loss	0.9900
1:100995146:ATGTC:A	acceptor_loss	0.9900
1:100995147:TGT:T	acceptor_gain	0.9900
1:100995148:GT:G	acceptor_gain	0.9900
1:100995149:TC:T	acceptor_loss	0.9900
1:100995150:C:A	acceptor_loss	0.9900
1:100995150:C:CC	acceptor_gain	0.9900
1:100995151:T:G	acceptor_loss	0.9900
1:101001583:TATAA:T	acceptor_gain	0.9900
1:101001585:TAA:T	acceptor_gain	0.9900
1:101001588:C:CC	acceptor_gain	0.9900

AlphaMissense

1863 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:101001476:A:G	C161R	0.998
1:101013741:A:T	I113K	0.997
1:101001472:A:G	L162S	0.996
1:101025349:T:A	E32V	0.996
1:100995149:T:A	D164V	0.995
1:101001467:C:G	D164H	0.995
1:101013733:C:G	A116P	0.995
1:101013745:A:G	S112P	0.995
1:101013749:A:C	N110K	0.995
1:101013749:A:T	N110K	0.995
1:101013808:G:C	H91D	0.995
1:100990607:A:T	V220D	0.994
1:100992681:A:G	L197P	0.994
1:101001562:G:T	S132Y	0.994
1:101001574:C:A	G128V	0.994
1:101001574:C:T	G128E	0.994
1:101013741:A:C	I113R	0.994
1:101025427:C:T	G6E	0.994
1:101025428:C:A	G6W	0.994
1:100995149:T:G	D164A	0.993
1:101001562:G:A	S132F	0.993
1:101021653:C:T	G83D	0.993
1:101021654:C:G	G83R	0.993
1:101021662:A:T	L80H	0.993
1:101025389:C:G	G19R	0.993
1:101025404:C:G	D14H	0.993
1:101025428:C:G	G6R	0.993
1:101025428:C:T	G6R	0.993
1:100990604:C:T	G221D	0.992
1:100995148:G:C	D164E	0.992

dbSNP variants (sampled 300 via entrez): RS1000000812 (1:100996675 C>T), RS1000150437 (1:101007620 C>G,T), RS1000181166 (1:101001978 C>T), RS1000399962 (1:101006162 C>T), RS1000440778 (1:100998976 G>A), RS1000444728 (1:101019874 T>C), RS1000471588 (1:100998793 G>T), RS1000507079 (1:101014214 A>G,T), RS1000771063 (1:101005925 G>A,C,T), RS1000777338 (1:101000321 A>C), RS1000808483 (1:101000071 C>T), RS1001105871 (1:101009177 G>C), RS1001148887 (1:101010690 T>C), RS1001281964 (1:100989211 G>A), RS1001341500 (1:100993553 AATATAAATATATATAT>A)

Disease associations

OMIM: gene MIM:611075 | disease phenotypes: MIM:620070

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties	Limited	AR

Mondo (1): neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties (MONDO:0859295)

Orphanet (0):

HPO phenotypes

51 total (30 of 51 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000020	Urinary incontinence
HP:0000218	High palate
HP:0000286	Epicanthus
HP:0000337	Broad forehead
HP:0000341	Narrow forehead
HP:0000347	Micrognathia
HP:0000348	High forehead
HP:0000431	Wide nasal bridge
HP:0000490	Deeply set eye
HP:0000582	Upslanted palpebral fissure
HP:0000637	Long palpebral fissure
HP:0000653	Sparse eyelashes
HP:0000670	Carious teeth
HP:0001182	Tapered finger
HP:0001252	Hypotonia
HP:0001263	Global developmental delay
HP:0001320	Cerebellar vermis hypoplasia
HP:0001344	Absent speech
HP:0001522	Death in infancy
HP:0001558	Decreased fetal movement
HP:0001561	Polyhydramnios
HP:0001631	Atrial septal defect
HP:0001698	Pericardial effusion
HP:0001763	Pes planus
HP:0001838	Rocker bottom foot
HP:0002020	Gastroesophageal reflux
HP:0002069	Bilateral tonic-clonic seizure
HP:0002187	Profound intellectual disability
HP:0002280	Enlarged cisterna magna

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST001890_9	QT interval (drug interaction)	3.000000e-06
GCST006535_2	Irritable bowel syndrome	3.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004682	QT interval
EFO:0007916	response to tricyclic antidepressant

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	3
Valproic Acid	decreases expression, increases expression, affects expression	3
Tretinoin	decreases expression	2
Cadmium Chloride	decreases expression	2
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
bisphenol A	increases expression	1
cobaltous chloride	increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
beta-methylcholine	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
JP8 aviation fuel	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
dorsomorphin	affects cotreatment, decreases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	affects expression, increases abundance	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Manganese	increases expression, affects cotreatment, increases abundance	1
Ozone	affects expression, increases abundance	1
Phenylmercuric Acetate	affects cotreatment, decreases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	increases methylation	1
Tunicamycin	increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Cyclosporine	increases expression	1
Antirheumatic Agents	increases expression	1
Thapsigargin	increases expression	1
Okadaic Acid	decreases expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

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