DISP1

Summary

DISP1 (dispatched RND transporter family member 1, HGNC:19711) is a protein-coding gene on chromosome 1q41, encoding Protein dispatched homolog 1 (Q96F81). Functions in hedgehog (Hh) signaling.

The pattern of cellular proliferation and differentiation that leads to normal development of embryonic structures often depends upon the localized production of secreted protein signals. Cells surrounding the source of a particular signal respond in a graded manner according to the effective concentration of the signal, and this response produces the pattern of cell types constituting the mature structure. A novel segment-polarity gene known as dispatched has been identified in Drosophila and its protein product is required for normal Hedgehog (Hh) signaling. This gene is one of two human homologs of Drosophila dispatched and, based on sequence identity to its mouse counterpart, the encoded protein may play an essential role in Hh patterning activities in the early embryo.

Source: NCBI Gene 84976 — RefSeq curated summary.

At a glance

• Gene–disease (curated): holoprosencephaly (Strong, GenCC)
• GWAS associations: 2
• Clinical variants (ClinVar): 497 total — 8 pathogenic, 5 likely-pathogenic
• Phenotypes (HPO): 115
• Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
• MANE Select transcript: NM_001377229

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19711
Approved symbol	DISP1
Name	dispatched RND transporter family member 1
Location	1q41
Locus type	gene with protein product
Status	Approved
Aliases	DISPA, MGC13130, DKFZP434I0428, MGC16796
Ensembl gene	ENSG00000154309
Ensembl biotype	protein_coding
OMIM	607502
Entrez	84976

Gene structure

Transcript identifiers

Ensembl transcripts: 48 — 27 protein_coding, 16 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay, 2 retained_intron

ENST00000284476, ENST00000360254, ENST00000420335, ENST00000426045, ENST00000434872, ENST00000435378, ENST00000439440, ENST00000442171, ENST00000444858, ENST00000450784, ENST00000457636, ENST00000482856, ENST00000495684, ENST00000654502, ENST00000657452, ENST00000661663, ENST00000663328, ENST00000669958, ENST00000674709, ENST00000674736, ENST00000675039, ENST00000675850, ENST00000675961, ENST00000676139, ENST00000676303, ENST00000676412, ENST00000900733, ENST00000900734, ENST00000900735, ENST00000900736, ENST00000900737, ENST00000900738, ENST00000900739, ENST00000900740, ENST00000900741, ENST00000900742, ENST00000900743, ENST00000900744, ENST00000900745, ENST00000900746, ENST00000900747, ENST00000940100, ENST00000940101, ENST00000940102, ENST00000940103, ENST00000953645, ENST00000953646, ENST00000953647

RefSeq mRNA: 5 — MANE Select: NM_001377229 NM_001350630, NM_001369594, NM_001377228, NM_001377229, NM_032890

CCDS: CCDS1536

Canonical transcript exons

ENST00000675850 — 9 exons

Exon	Start	End
ENSE00001015181	222992013	222992110
ENSE00001015183	222994885	222994982
ENSE00001424783	223002385	223005995
ENSE00001442890	222928430	222928570
ENSE00003557580	222990625	222990748
ENSE00003576158	222983080	222983109
ENSE00003601824	222991520	222991647
ENSE00003732619	222942807	222943332
ENSE00003903145	222815039	222815078

Expression profiles

Bgee: expression breadth ubiquitous, 221 present calls, max score 92.43.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.8140 / max 208.6328, expressed in 1741 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
8734	5.6153	1663
8735	4.1816	1527
8739	0.8129	312
8736	0.5197	277
8741	0.3193	183
8740	0.3160	167
8733	0.0491	12

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	92.43	gold quality
right testis	UBERON:0004534	91.51	gold quality
left testis	UBERON:0004533	91.23	gold quality
testis	UBERON:0000473	90.51	gold quality
epithelial cell of pancreas	CL:0000083	89.48	silver quality
pancreatic ductal cell	CL:0002079	88.94	silver quality
olfactory segment of nasal mucosa	UBERON:0005386	88.11	gold quality
muscle layer of sigmoid colon	UBERON:0035805	88.08	gold quality
islet of Langerhans	UBERON:0000006	88.06	gold quality
calcaneal tendon	UBERON:0003701	87.75	gold quality
upper lobe of left lung	UBERON:0008952	87.36	gold quality
tibial nerve	UBERON:0001323	86.97	gold quality
right lung	UBERON:0002167	86.77	gold quality
upper lobe of lung	UBERON:0008948	86.30	gold quality
small intestine Peyer’s patch	UBERON:0003454	86.19	gold quality
metanephros cortex	UBERON:0010533	86.19	gold quality
tendon	UBERON:0000043	86.17	gold quality
gall bladder	UBERON:0002110	85.80	gold quality
sural nerve	UBERON:0015488	85.79	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.34	gold quality
small intestine	UBERON:0002108	85.08	gold quality
omental fat pad	UBERON:0010414	84.89	gold quality
peritoneum	UBERON:0002358	84.81	gold quality
adult mammalian kidney	UBERON:0000082	84.67	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	84.61	gold quality
right adrenal gland cortex	UBERON:0035827	84.59	gold quality
right lobe of thyroid gland	UBERON:0001119	84.57	gold quality
left lobe of thyroid gland	UBERON:0001120	84.49	gold quality
lung	UBERON:0002048	84.43	gold quality
oviduct epithelium	UBERON:0004804	84.43	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	30.43
E-ANND-3	yes	6.71

Regulation

Is transcription factor: no

Functional genomics

ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 10)

• describe two independent families with truncating mutations in DISP1 that resemble the cardinal craniofacial and neuro-developmental features of a recently described microdeletion syndrome that includes this gene (PMID:19184110)
• report of 1st de novo DISP1 point mutation in patient with congenital diaphragmatic hernia (CDH); finding with Disp1 embryonic mouse diaphragm and lung expression and previously reported 1q41q42 aberrations in CDH suggests DISP1 may be CDH candidate gene (PMID:20799323)
• Studies indicate that DISP1 haploinsufficiency may not be solely responsible for the major features of 1q41q42 microdeletion syndrome, and other genes in the SRO likely play a role in the phenotype. (PMID:20951845)
• DISP-1 is required for non-small cell lung carcinoma cells proliferation (PMID:22733134)
• The top single-nucleotide polymorphism (SNP) was rs17162912 (P=1.76 x 10(-8)), which is near the DISP1 gene on 1q41-q42, a microdeletion region implicated in neurological development. (PMID:25824302)
• Genome-wide association study does not support the role of DISP1 in predicting serotonin reuptake inhibitor response in obsessive-compulsive disorder. (PMID:29953682)
• Structure of human Dispatched-1 provides insights into Hedgehog ligand biogenesis. (PMID:32646883)
• Conserved cholesterol-related activities of Dispatched 1 drive Sonic hedgehog shedding from the cell membrane. (PMID:34308968)
• Structural insights into proteolytic activation of the human Dispatched1 transporter for Hedgehog morphogen release. (PMID:34845226)
• DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations. (PMID:38529886)

Cross-species orthologs

9 orthologs

Organism	Symbol	Gene ID
danio_rerio	disp1	ENSDARG00000044417
mus_musculus	Disp1	ENSMUSG00000030768
rattus_norvegicus	Disp1	ENSRNOG00000003635
drosophila_melanogaster	ptc	FBGN0003892
drosophila_melanogaster	disp	FBGN0029088
drosophila_melanogaster	Ptr	FBGN0262867
caenorhabditis_elegans		WBGENE00004208
caenorhabditis_elegans		WBGENE00004211
caenorhabditis_elegans	ptr-17	WBGENE00004231

Paralogs (10): NPC1L1 (ENSG00000015520), SCAP (ENSG00000114650), PTCH2 (ENSG00000117425), DISP2 (ENSG00000140323), NPC1 (ENSG00000141458), PTCHD1 (ENSG00000165186), PTCHD3 (ENSG00000182077), PTCH1 (ENSG00000185920), DISP3 (ENSG00000204624), PTCHD4 (ENSG00000244694)

Protein

Protein identifiers

Protein dispatched homolog 1 — Q96F81 (reviewed: Q96F81)

All UniProt accessions (5): Q96F81, A0A6Q8PFL8, A0A6Q8PG23, A0A6Q8PG27, A0A6Q8PH18

UniProt curated annotations — full annotation on UniProt →

Function. Functions in hedgehog (Hh) signaling. Regulates the release and extracellular accumulation of cholesterol-modified hedgehog proteins and is hence required for effective production of the Hh signal. Synergizes with SCUBE2 to cause an increase in SHH secretion.

Subunit / interactions. Interacts with SHH via the cholesterol anchor of the dually lipid-modified SHH (ShhNp).

Subcellular location. Membrane.

Disease relevance. Holoprosencephaly 10 (HPE10) [MIM:621143] A form of holoprosencephaly, a structural anomaly of the brain in which the developing forebrain fails to correctly separate into right and left hemispheres. It is a genetically and clinically heterogeneous disorder with a wide spectrum of severity, ranging from alobar holoprosencephaly with severe facial abnormalities, such as cyclopia and proboscis, to mild forms that include lobar or microform holoprosencephaly, without cerebral malformations and with mild craniofacial defects. HPE10 inheritance pattern is autosomal recessive. Autosomal dominant inheritance with incomplete penetrance or oligogenic inheritance have been reported in some families. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the dispatched family.

RefSeq proteins (5): NP_001337559, NP_001356523, NP_001364157, NP_001364158, NP_116279 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000731	SSD	Domain
IPR004869	MMPL_dom	Domain
IPR052081	Dispatched_Hh_regulator	Family
IPR053958	HMGCR/SNAP/NPC1-like_SSD	Domain

Pfam: PF03176, PF12349

UniProt features (47 total): sequence variant 26, transmembrane region 12, sequence conflict 5, glycosylation site 2, chain 1, domain 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
7E2G	ELECTRON MICROSCOPY	3.61
7E2H	ELECTRON MICROSCOPY	3.68
7E2I	ELECTRON MICROSCOPY	4.07
6XE6	ELECTRON MICROSCOPY	4.53

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96F81-F1	65.21	0.29

Functional residue map

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

Glycosylation sites (2): 59, 582

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 311 (showing top): GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_DORSAL_VENTRAL_PATTERN_FORMATION, GOBP_SPECIFICATION_OF_SYMMETRY, GOBP_REGULATION_OF_PROTEIN_SECRETION, GOBP_PROTEIN_MATURATION, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, GOBP_AMIDE_METABOLIC_PROCESS, GOBP_EMBRYONIC_PATTERN_SPECIFICATION, KINSEY_TARGETS_OF_EWSR1_FLII_FUSION_DN, GOBP_SKELETAL_MUSCLE_ORGAN_DEVELOPMENT, GOBP_SECRETION, GOBP_SMOOTHENED_SIGNALING_PATHWAY, GOBP_RESPIRATORY_SYSTEM_DEVELOPMENT, GOBP_EMBRYO_DEVELOPMENT

GO Biological Process (9): smoothened signaling pathway (GO:0007224), patched ligand maturation (GO:0007225), determination of left/right symmetry (GO:0007368), embryonic pattern specification (GO:0009880), dorsal/ventral pattern formation (GO:0009953), peptide transport (GO:0015833), regulation of protein secretion (GO:0050708), diaphragm development (GO:0060539), protein homotrimerization (GO:0070207)

GO Molecular Function (2): molecular carrier activity (GO:0140104), protein binding (GO:0005515)

GO Cellular Component (2): membrane (GO:0016020), basolateral plasma membrane (GO:0016323)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
cell surface receptor signaling pathway	1
peptide hormone processing	1
determination of bilateral symmetry	1
left/right pattern formation	1
pattern specification process	1
embryo development	1
regionalization	1
transport	1
protein secretion	1
regulation of protein transport	1
regulation of secretion by cell	1
skeletal muscle organ development	1
respiratory system development	1
protein homooligomerization	1
protein trimerization	1
molecular_function	1
cellular anatomical structure	1
basal plasma membrane	1
plasma membrane region	1

Protein interactions and networks

STRING

592 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DISP1	ZIC2	O95409	919
DISP1	SIX3	O95343	910
DISP1	SHH	Q15465	861
DISP1	FOXA2	Q9Y261	805
DISP1	GAS1	P54826	694
DISP1	CDON	Q4KMG0	644
DISP1	BPNT1	O95861	636
DISP1	SCUBE2	Q9NQ36	619
DISP1	UBIAD1	Q9Y5Z9	598
DISP1	SMO	Q99835	578
DISP1	PTCH2	Q9Y6C5	561
DISP1	LEFTY1	O75610	548
DISP1	LBR	Q14739	542
DISP1	GLI2	P10070	532
DISP1	DHH	O43323	518

IntAct

13 interactions, top by confidence:

A	B	Type	Score
LAPTM5	DISP1	psi-mi:“MI:0915”(physical association)	0.560
DISP1	LAPTM5	psi-mi:“MI:0915”(physical association)	0.560
DISP1	WFS1	psi-mi:“MI:0915”(physical association)	0.560
ADAMTSL4	DISP1	psi-mi:“MI:0915”(physical association)	0.370
IL17RC	C2CD2L	psi-mi:“MI:0914”(association)	0.350
C15orf32	NPC1	psi-mi:“MI:0914”(association)	0.350
DISP1	CST4	psi-mi:“MI:0914”(association)	0.350
RNF133	CD14	psi-mi:“MI:0914”(association)	0.350
MAGT1	PES1	psi-mi:“MI:0914”(association)	0.350

BioGRID (16): DISP1 (Two-hybrid), DISP1 (Affinity Capture-MS), DISP1 (Affinity Capture-MS), DISP1 (Proximity Label-MS), DISP1 (Affinity Capture-RNA), DISP1 (Affinity Capture-MS), DISP1 (Affinity Capture-MS), IGJ (Affinity Capture-MS), DISP1 (Affinity Capture-MS), CST2 (Affinity Capture-MS), CST4 (Affinity Capture-MS), DISP1 (Affinity Capture-MS), DISP1 (Affinity Capture-MS), DISP1 (Co-fractionation), DISP1 (Affinity Capture-MS)

ESM2 similar proteins: A1L272, A2RV80, A4IF30, A6QL92, A6QPI1, O02777, O80605, P17200, P20272, P21554, P47746, P51810, P56971, P70259, Q1LZI2, Q2V4F9, Q3TDN0, Q3UGM2, Q4R794, Q5F383, Q5FVJ3, Q5IS73, Q5R4D7, Q5R6J3, Q5RD30, Q66H88, Q6P0E8, Q6P499, Q6R5J2, Q71SP5, Q8BGN5, Q8BZK4, Q8CBH5, Q8IY50, Q8NA31, Q8NBV4, Q8R314, Q8RWF4, Q8WV83, Q91WB2

Diamond homologs: A7MBM2, Q3TDN0, Q6R5J1, Q6R5J2, Q8CIP5, Q96F81, Q9VNJ5

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
DISP1	“up-regulates activity”	SHH	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	8
Likely pathogenic	5
Uncertain significance	326
Likely benign	99
Benign	40

Top pathogenic / likely-pathogenic (13)

Variant ID	HGVS	Classification
2114849	NM_001377229.1(DISP1):c.472C>T (p.Gln158Ter)	Pathogenic
2819279	NM_001377229.1(DISP1):c.34_37del (p.Val11_Val12insTer)	Pathogenic
3776742	DISP1, SER144CYS	Pathogenic
3776743	DISP1, GLN1320TER	Pathogenic
3776744	DISP1, SER746PRO	Pathogenic
3776745	DISP1, PRO189LEU	Pathogenic
3776746	DISP1, GLY1047SER	Pathogenic
3776747	DISP1, 1-BP DEL, NT4408	Pathogenic
2836390	NM_001377229.1(DISP1):c.664-2A>G	Likely pathogenic
3390848	NM_001377229.1(DISP1):c.431C>G (p.Ser144Cys)	Likely pathogenic
4057294	NM_001377229.1(DISP1):c.2064C>A (p.Cys688Ter)	Likely pathogenic
4845551	NM_001377229.1(DISP1):c.2839G>A (p.Val947Met)	Likely pathogenic
4849370	NM_001377229.1(DISP1):c.3765del (p.Glu1257fs)	Likely pathogenic

SpliceAI

1929 predictions. Top by Δscore:

Variant	Effect	Δscore
1:222928567:AAAGG:A	donor_loss	1.0000
1:222928568:AAGGT:A	donor_loss	1.0000
1:222928569:AGG:A	donor_loss	1.0000
1:222928570:GGTA:G	donor_loss	1.0000
1:222928571:G:C	donor_loss	1.0000
1:222928572:T:G	donor_loss	1.0000
1:222983078:A:AG	acceptor_gain	1.0000
1:222983079:G:GG	acceptor_gain	1.0000
1:222983109:GGTAA:G	donor_loss	1.0000
1:222983110:GTA:G	donor_loss	1.0000
1:222990623:A:AG	acceptor_gain	1.0000
1:222990624:G:GA	acceptor_gain	1.0000
1:222990624:GTT:G	acceptor_gain	1.0000
1:222990624:GTTAT:G	acceptor_gain	1.0000
1:222990702:TTG:T	donor_gain	1.0000
1:222990746:CTGG:C	donor_loss	1.0000
1:222990747:TGGT:T	donor_loss	1.0000
1:222990748:GGTA:G	donor_loss	1.0000
1:222990749:G:GC	donor_loss	1.0000
1:222990750:T:G	donor_loss	1.0000
1:222991514:CCTTA:C	acceptor_loss	1.0000
1:222991515:CTTA:C	acceptor_loss	1.0000
1:222991516:TTAG:T	acceptor_loss	1.0000
1:222991517:TAG:T	acceptor_loss	1.0000
1:222991518:A:AG	acceptor_gain	1.0000
1:222991518:A:C	acceptor_loss	1.0000
1:222991518:AG:A	acceptor_gain	1.0000
1:222991519:G:A	acceptor_gain	1.0000
1:222991519:G:GG	acceptor_gain	1.0000
1:222992012:GCC:G	acceptor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000007481 (1:222835921 C>G,T), RS1000015616 (1:222886127 A>G), RS1000021399 (1:222933901 T>A), RS1000032941 (1:222883280 T>C), RS1000046299 (1:222976154 G>A), RS1000059953 (1:222835296 T>C), RS1000077583 (1:222975964 A>C,G), RS1000088733 (1:222885870 A>G), RS1000090981 (1:222930758 A>G), RS1000117581 (1:222913294 A>T), RS1000139134 (1:222923327 T>C), RS1000169492 (1:222876186 T>C), RS1000183390 (1:222829180 G>C), RS1000187227 (1:222873328 T>A,G), RS1000195111 (1:222875769 G>A,C,T)

Disease associations

OMIM: gene MIM:607502 | disease phenotypes: MIM:621143, MIM:610828, MIM:236100

GenCC curated gene-disease

Disease	Classification	Inheritance
holoprosencephaly	Strong	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
holoprosencephaly	Limited	AD

Mondo (6): microform holoprosencephaly (MONDO:0017219), esophageal atresia (MONDO:0001044), holoprosencephaly 10 (MONDO:0976262), holoprosencephaly 7 (MONDO:0012562), lobar holoprosencephaly (MONDO:0019756), holoprosencephaly (MONDO:0016296)

Orphanet (3): Microform holoprosencephaly (Orphanet:280200), Holoprosencephaly (Orphanet:2162), Lobar holoprosencephaly (Orphanet:93924)

HPO phenotypes

115 total (30 of 115 shown, HPO-id order):

HPO	Term
HP:0000062	Ambiguous genitalia
HP:0000104	Renal agenesis
HP:0000119	Abnormality of the genitourinary system
HP:0000161	Median cleft upper lip
HP:0000175	Cleft palate
HP:0000193	Bifid uvula
HP:0000202	Orofacial cleft
HP:0000218	High palate
HP:0000238	Hydrocephalus
HP:0000252	Microcephaly
HP:0000256	Macrocephaly
HP:0000322	Short philtrum
HP:0000407	Sensorineural hearing impairment
HP:0000446	Narrow nasal bridge
HP:0000453	Choanal atresia
HP:0000457	Depressed nasal ridge
HP:0000463	Anteverted nares
HP:0000478	Abnormality of the eye
HP:0000486	Strabismus
HP:0000601	Hypotelorism
HP:0000612	Iris coloboma
HP:0000708	Atypical behavior
HP:0000716	Depression
HP:0000736	Short attention span
HP:0000737	Irritability
HP:0000739	Anxiety
HP:0000741	Apathy
HP:0000772	Abnormal rib morphology
HP:0000818	Abnormality of the endocrine system
HP:0000821	Hypothyroidism

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST006979_902	Heel bone mineral density	5.000000e-13
GCST010579_3	Response to antiepileptic mood-stabilizing treatment in bipolar disorder	2.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0009270	heel bone mineral density

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D004933	Esophageal Atresia	C06.198.330; C06.405.117.260; C16.131.314.330
D016142	Holoprosencephaly	C05.660.207.410; C10.500.034.875; C16.131.077.410; C16.131.260.380; C16.131.621.207.410; C16.131.666.034.875; C16.320.180.380
C563660	Holoprosencephaly 7 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

2 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs17535305	DISP1		0.00	0
rs61840266	DISP1		0.00	0

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects cotreatment	5
trichostatin A	affects cotreatment, increases expression	3
Benzo(a)pyrene	affects methylation, increases methylation, increases mutagenesis	2
Nickel	decreases expression	2
Aflatoxin B1	decreases methylation, increases methylation	2
FR900359	increases phosphorylation	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
ferrous chloride	decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
entinostat	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
ICG 001	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
PCI 5002	affects cotreatment, increases expression	1
Calcitriol	increases expression, affects cotreatment	1
Carbamazepine	affects expression	1
Doxorubicin	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Methyl Methanesulfonate	increases expression	1
Silicon Dioxide	decreases expression	1
Testosterone	affects cotreatment, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	increases expression	1
Zinc	affects cotreatment, increases expression	1
Cyclosporine	increases expression	1
Gold Compounds	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00226044	PHASE3	COMPLETED	Rectal and Oral Omeprazole Treatment of Reflux Disease in Infants.
NCT03127345	PHASE2	WITHDRAWN	Omega 3 Fatty Acid Treatment for Pediatric Musculoskeletal Health
NCT00005016	Not specified	COMPLETED	Study of the Experiences and Needs of Parents Continuing a Pregnancy Following a Prenatal Diagnosis of Holopresencephaly
NCT00088426	Not specified	COMPLETED	Clinical and Genetic Studies on Holoprosencephaly
NCT00645645	Not specified	COMPLETED	A Study of the Genetic Analysis of Brain Disorders
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NCT02033772	Not specified	COMPLETED	Prospective Data Collection of Patients < 6 Months of Age Undergoing Thoracoscopic Surgery
NCT02466451	Not specified	COMPLETED	Study in Children With the Diagnosis of Congenital Diaphragmatic Hernia (CDH) and Oesophageal Atresia (EA)
NCT02525705	Not specified	COMPLETED	Dumping Syndrome After Operation of Esophageal Atresia Type III
NCT02883725	Not specified	COMPLETED	National Register of Oesophageal Atresia
NCT03023865	Not specified	UNKNOWN	Individualized Management for Long Gap Esophageal Atresia
NCT03415893	Not specified	COMPLETED	High-resolution Esophageal Manometry
NCT03455881	Not specified	UNKNOWN	Phenotypic and Genetic Assessment of Tracheal and Esophageal Birth Defects in Patients
NCT03615495	Not specified	COMPLETED	Flourish™ Pediatric Esophageal Atresia
NCT03619408	Not specified	UNKNOWN	Management of Esophagitis Following Repair of Esophageal Atresia
NCT03666767	Not specified	COMPLETED	Management and Outcomes of Congenital Anomalies in Low-, Middle- and High-Income Countries
NCT03730454	Not specified	ACTIVE_NOT_RECRUITING	Transanastomotic Tube for Proximal Esophageal Atresia With Distal Tracheoesophageal Fistula Repair
NCT03767673	Not specified	UNKNOWN	Cardiorespiratory Performance and Pulmonary Microbiome in Patients After Repair of Esophageal Atresia
NCT03999008	Not specified	UNKNOWN	Oral Viscous Budesonide in Anastomotic Stricture After Esophageal Atresia Repair (OVB in EA)
NCT04072419	Not specified	UNKNOWN	Application of Enhanced Recovery After Surgery for Congenital Esophageal Atresia During Perioperative Period
NCT04136795	Not specified	UNKNOWN	Evaluation of the Respiratory Impact After Conventional or Minimally Invasive Esophageal Atresia Surgery
NCT04259528	Not specified	UNKNOWN	Endoscopic Ultrasound Findings in Esophageal Atresia Following Surgical Repair
NCT04522193	Not specified	RECRUITING	Dumping Syndrome and Esophageal Atresia
NCT04901546	Not specified	COMPLETED	Esophageal Atresia: a Natural Experiment of the Effects of Oral Inoculation on the Gut Microbiome
NCT04932746	Not specified	COMPLETED	The Effect of Dexmedetomidine on Oxygen During One Lung Ventilation in Pediatric Surgery.
NCT05129930	Not specified	COMPLETED	Fluid Overload and Pulmonary Function
NCT05527873	Not specified	COMPLETED	Respiratory Complications of Operated Esophageal Atresia in Children
NCT05995171	Not specified	RECRUITING	Long Term Outcome of Easophageal Atresia : Transmics Profiles in Adolescence
NCT06073158	Not specified	COMPLETED	Molecular Signatures of Esophageal Atresia
NCT06208449	Not specified	UNKNOWN	Robotic Versus Thoracoscopy Versus Thoracotomy Repair for Congenital Esophageal Atresia
NCT06335862	Not specified	ENROLLING_BY_INVITATION	Primary Posterior Tracheopexy Prevents Tracheal Collapse
NCT06731855	Not specified	RECRUITING	An Exploratory Physiological Study of Post-operative Recovery in Surgical Neonates and Dimethylarginine:Arginine Levels
NCT06860919	Not specified	RECRUITING	Prospective Evaluation of the Results of Multidisciplinary Follow-up After a Transitional Consultation for Esophageal Atresia
NCT06975982	Not specified	RECRUITING	Symptoms, Pulmonary Function, Muscle Strength, Exercise Capacity, and Frailty in Esophageal Atresia vs. Healthy Peers
NCT07100379	Not specified	RECRUITING	Balloon Inflation Time for Esophageal Strictures (BITES): A Randomized Multi-Center Study
NCT07210736	Not specified	NOT_YET_RECRUITING	Brazilian Multicenter Study on Esophageal Atresia