CMIP

Summary

CMIP (c-Maf inducing protein, HGNC:24319) is a protein-coding gene on chromosome 16q23.2-q23.3, encoding C-Maf-inducing protein (Q8IY22). Plays a role in T-cell signaling pathway. It is a selective cancer dependency (DepMap: 24.9% of cell lines).

This gene encodes a c-Maf inducing protein that plays a role in T-cell signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.

Source: NCBI Gene 80790 — RefSeq curated summary.

At a glance

• GWAS associations: 182
• Clinical variants (ClinVar): 163 total
• Phenotypes (HPO): 2
• Cancer dependency (DepMap): dependent in 24.9% of screened cell lines
• MANE Select transcript: NM_198390

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24319
Approved symbol	CMIP
Name	c-Maf inducing protein
Location	16q23.2-q23.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000153815
Ensembl biotype	protein_coding
OMIM	610112
Entrez	80790

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 5 protein_coding, 4 retained_intron, 1 protein_coding_CDS_not_defined, 1 TEC

ENST00000398040, ENST00000537098, ENST00000539778, ENST00000561605, ENST00000564666, ENST00000565029, ENST00000565680, ENST00000566462, ENST00000566513, ENST00000569146, ENST00000623842

RefSeq mRNA: 2 — MANE Select: NM_198390 NM_030629, NM_198390

CCDS: CCDS54044, CCDS54045

Canonical transcript exons

ENST00000537098 — 21 exons

Exon	Start	End
ENSE00002209433	81444808	81445541
ENSE00002322064	81607567	81607692
ENSE00003279747	81709746	81711762
ENSE00003492246	81693439	81693487
ENSE00003528175	81693158	81693184
ENSE00003558476	81652203	81652364
ENSE00003599262	81696560	81696667
ENSE00003616247	81705499	81705604
ENSE00003647466	81699685	81699801
ENSE00003691496	81620876	81620926
ENSE00003718146	81691775	81691840
ENSE00003721317	81678275	81678628
ENSE00003726889	81707014	81707084
ENSE00003728735	81702622	81702669
ENSE00003729547	81671966	81672070
ENSE00003735458	81657775	81657816
ENSE00003740621	81660884	81660946
ENSE00003741062	81664269	81664349
ENSE00003746150	81670142	81670245
ENSE00003746677	81703939	81704085
ENSE00003754193	81701660	81701800

Expression profiles

Bgee: expression breadth ubiquitous, 247 present calls, max score 98.13.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 60.0280 / max 2960.0872, expressed in 1825 samples.

FANTOM5 promoters (18 alternative TSS)

Promoter ID	TPM avg	Samples expressed
155153	30.7421	1810
155151	19.9000	1799
155152	2.6530	1242
155154	1.9919	954
155190	1.2665	224
155196	1.2367	373
155176	0.5053	182
155177	0.4794	197
155195	0.3623	173
155184	0.3587	90

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
kidney epithelium	UBERON:0004819	98.13	gold quality
pancreatic ductal cell	CL:0002079	97.05	gold quality
ileal mucosa	UBERON:0000331	96.76	gold quality
cortical plate	UBERON:0005343	96.71	gold quality
upper arm skin	UBERON:0004263	96.59	gold quality
dorsal root ganglion	UBERON:0000044	96.08	gold quality
monocyte	CL:0000576	95.95	gold quality
pylorus	UBERON:0001166	95.91	gold quality
substantia nigra pars reticulata	UBERON:0001966	95.88	gold quality
leukocyte	CL:0000738	95.75	gold quality
cardia of stomach	UBERON:0001162	95.75	gold quality
parietal lobe	UBERON:0001872	95.46	gold quality
postcentral gyrus	UBERON:0002581	95.44	gold quality
entorhinal cortex	UBERON:0002728	94.89	gold quality
ganglionic eminence	UBERON:0004023	94.64	gold quality
substantia nigra pars compacta	UBERON:0001965	94.50	gold quality
nasal cavity epithelium	UBERON:0005384	94.27	gold quality
ventral tegmental area	UBERON:0002691	94.14	gold quality
superior vestibular nucleus	UBERON:0007227	94.13	gold quality
caecum	UBERON:0001153	94.05	gold quality
gall bladder	UBERON:0002110	94.02	gold quality
pituitary gland	UBERON:0000007	93.77	gold quality
superior frontal gyrus	UBERON:0002661	93.69	gold quality
vermiform appendix	UBERON:0001154	93.65	gold quality
medulla oblongata	UBERON:0001896	93.57	gold quality
nipple	UBERON:0002030	93.53	gold quality
prefrontal cortex	UBERON:0000451	93.33	gold quality
small intestine Peyer’s patch	UBERON:0003454	92.85	gold quality
adenohypophysis	UBERON:0002196	92.84	gold quality
colonic epithelium	UBERON:0000397	92.76	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-HCAD-10	yes	16.83
E-GEOD-125970	yes	10.05
E-ANND-3	yes	9.68
E-HCAD-11	yes	7.32
E-MTAB-7249	no	1658.31

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

116 targeting CMIP, 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-3163	100.00	77.23	8605
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-3662	99.99	73.82	5684
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-6778-3P	99.96	67.29	2693
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-LET-7C-3P	99.95	73.42	2862
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-8087	99.90	69.55	1351
HSA-MIR-627-3P	99.90	71.42	3316

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 24.9% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 24)

• results suggest that Tc-mip plays a critical role in Th2 signaling pathway and represents the first proximal signaling protein which links TCR-mediated signal to the activation of c-maf Th2 specific factor (PMID:12939343)
• Filamin-A interacts with c-mip/Tc-mip in a new T-cell signaling pathway. (PMID:15128042)
• c-mip inhibits the degradation of I-kappaBalpha and impedes the dissociation of the NF-kappaB/I-kappaBalpha complexes. (PMID:19019440)
• CMIP modulates phonological short-term memory in language impairment. (PMID:19646677)
• Data demonstrate that c-mip interacts with Dip1 and upregulates DAPK, which blocks the nuclear translocation of ERK1/2. (PMID:20018188)
• Induction of c-mip in Hodgkin-Reed Sternberg cells and podocytes is associated with minimal change nephrotic syndrome in classical Hodgkin lymphoma. (PMID:20200355)
• results identify c-mip as a key component in the molecular pathogenesis of acquired podocyte diseases (PMID:20484117)
• we provide novel evidence that the language-disorder candidate gene CMIP is implicated in reading processes. (PMID:21457949)
• Eight suggestive significant loci were detected with a series of genes expressed within the inner ear that underlie the auditory function, such as: DCLK1, PTPRD, GRM8, CMIP. (PMID:21493956)
• These results suggest that alterations in NF-kappaB activity might result from the up-regulation of c-mip and are likely to contribute to podocyte disorders in cases of idiopathic nephrotic syndrome. (PMID:22507836)
• c-mip has an active role in the podocyte disorders of membranous nephropathy. (PMID:23302718)
• Results suggest that c-mip and RelA define two distinct types of renal damage associated with VEGF-targeted therapies. (PMID:24067439)
• Wilm’s tumor protein (WT1) bound to 2 WT1 response elements, located at positions -290/-274 and -57/-41 relative to transcription start site. (PMID:27650733)
• These findings suggest that CMIP haploinsufficiency is the likely cause of syndromic Autism spectrum disorder in our patients. (PMID:28504353)
• CMIP is oncogenic and could be a potential target for human glioma diagnosis and therapy. (PMID:28744466)
• CMIP knockdown was observed to result in the downregulation of MDM2 and mitogen activated protein kinase (MAPK) expression at the mRNA level and CMIP was a direct target of miR1013p. (PMID:28944848)
• each copy of CMIP rs2925979_T allele was associated with a 29% higher risk of T2DM in females (p = 9.30 x 10(-4)), while it was not significantly associated with T2DM in males (p = 0.705). (PMID:29597287)
• Genome-wide significant (P < 5 x 10(-8) ) interaction with MTNR1B and joint effects were detected for CMIP intronic rs17197883. (PMID:29691896)
• Expression of CMIP in podocytes is restricted to specific classes of lupus nephritis (PMID:30439969)
• CMIP is a negative regulator of T cell signaling. (PMID:31395948)
• CMIP promotes Herceptin resistance of HER2 positive gastric cancer cells. (PMID:31822364)
• CMIP SNPs and their haplotypes are associated with dyslipidaemia and clinicopathologic features of IgA nephropathy. (PMID:33112407)
• CMIP interacts with WT1 and targets it on the proteasome degradation pathway. (PMID:34323419)
• Dnmt1/Tet2-mediated changes in Cmip methylation regulate the development of nonalcoholic fatty liver disease by controlling the Gbp2-Ppargamma-CD36 axis. (PMID:36609599)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	cmip	ENSDARG00000062933
mus_musculus	Cmip	ENSMUSG00000034390
rattus_norvegicus	Cmip	ENSRNOG00000013178

Protein

Protein identifiers

C-Maf-inducing protein — Q8IY22 (reviewed: Q8IY22)

Alternative names: Truncated c-Maf-inducing protein

All UniProt accessions (3): Q8IY22, A0A087WU05, A0A087WUL1

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in T-cell signaling pathway. Isoform 2 may play a role in T-helper 2 (Th2) signaling pathway and seems to represent the first proximal signaling protein that links T-cell receptor-mediated signal to the activation of c-Maf Th2 specific factor.

Subunit / interactions. Interacts with FLNA.

Subcellular location. Nucleus. Cytoplasm.

Tissue specificity. Isoform 1 is expressed in peripheral blood mononuclear cells and kidney. Lower expression in brain and liver. Expression is down-regulated in activated cells. Isoform 2 is expressed in lymphocyte precursors, however, expression shuts down during maturation and differentiation in thymus and fetal liver.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8IY22-1	1, C-Mip	yes
Q8IY22-2	2, Tc-Mip
Q8IY22-3	3

RefSeq proteins (2): NP_085132, NP_938204* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR032675	LRR_dom_sf	Homologous_superfamily
IPR052813	CMIP	Family
IPR056429	PH_CMIP	Domain

Pfam: PF23066

UniProt features (15 total): modified residue 4, splice variant 4, repeat 4, chain 1, domain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IY22-F1	79.52	0.52

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 (4): 660, 349, 377, 382

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 128 (showing top): GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, CTATGCA_MIR153, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, AACTTT_UNKNOWN, RYTTCCTG_ETS2_B, ACTTTAT_MIR1425P, GOBP_EMBRYO_DEVELOPMENT, AGTCAGC_MIR345, HAMAI_APOPTOSIS_VIA_TRAIL_DN, AHR_Q5, ROYLANCE_BREAST_CANCER_16Q_COPY_NUMBER_UP, BRUINS_UVC_RESPONSE_LATE, KOINUMA_TARGETS_OF_SMAD2_OR_SMAD3, chr16q23, E2F5_TARGET_GENES

GO Biological Process (1): in utero embryonic development (GO:0001701)

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

GO Cellular Component (4): nucleoplasm (GO:0005654), cytosol (GO:0005829), nucleus (GO:0005634), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
chordate embryonic development	1
binding	1
nuclear lumen	1
cytoplasm	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

980 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CMIP	ATP2C2	O75185	943
CMIP	FLNA	P21333	874
CMIP	RELA	Q04206	836
CMIP	KIAA0319	Q5VV43	684
CMIP	NFXL1	Q6ZNB6	649
CMIP	DCDC2	Q9UHG0	648
CMIP	CNTNAP2	Q9UHC6	634
CMIP	DNAAF4	Q8WXU2	592
CMIP	GCFC2	P16383	573
CMIP	MAF	O75444	572
CMIP	FOXP2	O15409	572
CMIP	MRPL19	P49406	548
CMIP	FLNB	O75369	546
CMIP	FLNC	Q14315	540
CMIP	NAGPA	Q9UK23	521

IntAct

15 interactions, top by confidence:

A	B	Type	Score
PIK3R1	CMIP	psi-mi:“MI:0915”(physical association)	0.520
CMIP	PIK3R1	psi-mi:“MI:0915”(physical association)	0.520
CMIP	Mib1	psi-mi:“MI:0915”(physical association)	0.400
Mib1	CMIP	psi-mi:“MI:0915”(physical association)	0.400
NS3	C15orf61	psi-mi:“MI:0914”(association)	0.350
	SHTN1	psi-mi:“MI:0914”(association)	0.350
	TNFRSF10A	psi-mi:“MI:0914”(association)	0.350
CACNA1C	DISP2	psi-mi:“MI:0914”(association)	0.350
HCN1	POTEF	psi-mi:“MI:0914”(association)	0.350
CMIP	INPPL1	psi-mi:“MI:0914”(association)	0.350
P2RY1	EI24	psi-mi:“MI:0914”(association)	0.350
GPR119	IFITM3	psi-mi:“MI:0914”(association)	0.350
CMIP	MTNR1A	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (39): CMIP (Synthetic Lethality), CMIP (Two-hybrid), CMIP (Affinity Capture-MS), CMIP (Two-hybrid), CMIP (Affinity Capture-RNA), CMIP (Affinity Capture-RNA), FLNA (Affinity Capture-Western), CMIP (Two-hybrid), CMIP (Two-hybrid), TSR2 (Two-hybrid), CMIP (Affinity Capture-MS), CMIP (Affinity Capture-MS), CMIP (Affinity Capture-RNA), INPPL1 (Affinity Capture-MS), RILPL1 (Affinity Capture-MS)

ESM2 similar proteins: A0A5F9C6I2, A1L3F5, A2BDA5, A3KGS3, A8E4X8, D3ZXK7, F1R7R1, O75129, P21359, P51593, P97526, Q04690, Q1JPG0, Q2PPJ7, Q3SZD5, Q4QQM5, Q4R5A4, Q5RC14, Q5XPI3, Q5XPI4, Q62717, Q66K64, Q6GLR7, Q6NXD8, Q6P4S8, Q6PFH3, Q6VNB8, Q7L4E1, Q7TMY8, Q7Z6Z7, Q80TJ1, Q86UW7, Q8BHR8, Q8BK03, Q8BYR5, Q8CDG3, Q8CF97, Q8CID0, Q8IY22, Q8IZQ1

Diamond homologs: A1L3F5, Q8IY22, Q9D486

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	86
Likely benign	29
Benign	13

Top pathogenic / likely-pathogenic (0)

SpliceAI

6120 predictions. Top by Δscore:

Variant	Effect	Δscore
16:81445540:CGGTG:C	donor_loss	1.0000
16:81445541:GGT:G	donor_loss	1.0000
16:81445542:G:GG	donor_gain	1.0000
16:81445542:GT:G	donor_loss	1.0000
16:81445543:T:G	donor_loss	1.0000
16:81607559:T:TA	acceptor_gain	1.0000
16:81607562:T:A	acceptor_gain	1.0000
16:81607564:CAG:C	acceptor_loss	1.0000
16:81607565:A:AG	acceptor_gain	1.0000
16:81607566:G:A	acceptor_loss	1.0000
16:81607566:G:GA	acceptor_gain	1.0000
16:81607566:GC:G	acceptor_gain	1.0000
16:81607566:GCC:G	acceptor_gain	1.0000
16:81607566:GCCA:G	acceptor_gain	1.0000
16:81607566:GCCAA:G	acceptor_gain	1.0000
16:81607688:TGCAG:T	donor_loss	1.0000
16:81607690:CAG:C	donor_loss	1.0000
16:81607691:AG:A	donor_loss	1.0000
16:81607692:GG:G	donor_loss	1.0000
16:81607693:GTA:G	donor_loss	1.0000
16:81607694:T:A	donor_loss	1.0000
16:81652197:A:AG	acceptor_gain	1.0000
16:81652198:A:G	acceptor_gain	1.0000
16:81652200:CAGAA:C	acceptor_loss	1.0000
16:81652201:A:AG	acceptor_gain	1.0000
16:81652201:A:T	acceptor_loss	1.0000
16:81652202:G:GT	acceptor_gain	1.0000
16:81652202:GA:G	acceptor_gain	1.0000
16:81652202:GAAAA:G	acceptor_gain	1.0000
16:81652360:CAGAG:C	donor_loss	1.0000

AlphaMissense

5055 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:81445491:T:A	W84R	1.000
16:81445491:T:C	W84R	1.000
16:81445493:G:C	W84C	1.000
16:81445493:G:T	W84C	1.000
16:81607661:T:C	L132P	1.000
16:81607688:T:C	L141P	1.000
16:81620877:C:A	A143D	1.000
16:81620895:G:C	R149P	1.000
16:81620901:A:C	Q151P	1.000
16:81620903:T:A	W152R	1.000
16:81620903:T:C	W152R	1.000
16:81620912:T:C	S155P	1.000
16:81620916:T:C	L156P	1.000
16:81620921:T:A	W158R	1.000
16:81620921:T:C	W158R	1.000
16:81620923:G:C	W158C	1.000
16:81620923:G:T	W158C	1.000
16:81652279:T:C	L185P	1.000
16:81652291:C:A	A189D	1.000
16:81657812:T:A	I226N	1.000
16:81660891:C:A	A230D	1.000
16:81660900:T:C	L233P	1.000
16:81660915:C:A	P238Q	1.000
16:81660927:T:C	L242P	1.000
16:81660929:T:C	C243R	1.000
16:81660931:T:G	C243W	1.000
16:81660939:T:C	F246S	1.000
16:81664272:T:C	C250R	1.000
16:81664273:G:A	C250Y	1.000
16:81664274:C:G	C250W	1.000

dbSNP variants (sampled 300 via entrez): RS1000006954 (16:81479805 G>A,C), RS1000022046 (16:81587445 G>A), RS1000030511 (16:81648453 T>C,G), RS1000036108 (16:81661380 G>C,T), RS1000037763 (16:81649498 T>G), RS1000045980 (16:81679151 C>T), RS1000051049 (16:81529307 A>G), RS1000051370 (16:81644438 A>G), RS1000057654 (16:81533080 C>A,T), RS1000065161 (16:81699386 A>G), RS1000068504 (16:81563382 C>T), RS1000082535 (16:81648609 C>G,T), RS1000087173 (16:81665888 C>T), RS1000091789 (16:81560093 G>A,C,T), RS1000104823 (16:81447666 C>G)

Disease associations

OMIM: gene MIM:610112 | disease phenotypes:

GenCC curated gene-disease

Mondo (2): esophageal atresia (MONDO:0001044), pyloric stenosis (MONDO:0001561)

Orphanet (0):

HPO phenotypes

2 total (2 of 2 shown, HPO-id order):

HPO	Term
HP:0002032	Esophageal atresia
HP:0002021	Pyloric stenosis

GWAS associations

182 associations (top):

Study	Trait	p-value
GCST000755_43	HDL cholesterol	2.000000e-11
GCST001351_9	Type 2 diabetes	3.000000e-07
GCST001463_9	Adiponectin levels	3.000000e-21
GCST001465_19	Adiponectin levels	6.000000e-48
GCST002004_5	Adverse response to chemotherapy (neutropenia/leucopenia) (carboplatin)	9.000000e-06
GCST002013_2	Menarche (age at onset)	4.000000e-06
GCST002223_23	HDL cholesterol	1.000000e-19
GCST002233_7	Adiponectin levels	2.000000e-10
GCST002619_1	Age-related cataracts	2.000000e-06
GCST002782_10	Waist-to-hip ratio adjusted for body mass index	3.000000e-11
GCST002782_11	Waist-to-hip ratio adjusted for body mass index	1.000000e-06
GCST002782_35	Waist-to-hip ratio adjusted for body mass index	7.000000e-13
GCST002782_36	Waist-to-hip ratio adjusted for body mass index	1.000000e-07
GCST002899_28	HDL cholesterol	2.000000e-08
GCST002936_4	Cadmium levels	5.000000e-06
GCST004232_18	HDL cholesterol levels	9.000000e-22
GCST004280_42	Diastolic blood pressure	1.000000e-09
GCST004505_24	Waist-to-hip ratio adjusted for BMI (adjusted for smoking behaviour)	2.000000e-06
GCST004505_25	Waist-to-hip ratio adjusted for BMI (adjusted for smoking behaviour)	1.000000e-10
GCST004567_106	Waist-to-hip ratio adjusted for BMI (joint analysis for main effect and physical activity interaction)	2.000000e-08
GCST004567_13	Waist-to-hip ratio adjusted for BMI (joint analysis for main effect and physical activity interaction)	2.000000e-08
GCST004576_31	Waist-to-hip ratio adjusted for body mass index	2.000000e-08
GCST004773_10	Type 2 diabetes	2.000000e-09
GCST004894_23	Type 2 diabetes	8.000000e-07
GCST004894_79	Type 2 diabetes	2.000000e-08
GCST004941_2	Dehydroepiandrosterone sulphate levels	6.000000e-10
GCST005024_22	Pursuit maintenance gain	7.000000e-06
GCST005956_61	Waist-to-hip ratio adjusted for BMI	3.000000e-08
GCST005958_20	Waist-to-hip ratio adjusted for BMI (age >50)	4.000000e-06
GCST005959_24	Waist-to-hip ratio adjusted for BMI x sex interaction	2.000000e-06

EFO canonical traits (33, from GWAS)

EFO ID	Trait name
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004502	adiponectin measurement
EFO:0004703	age at menarche
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0006336	diastolic blood pressure
EFO:0004318	smoking behavior
EFO:0008002	physical activity measurement
EFO:0007001	dehydroepiandrosterone sulphate measurement
EFO:0008433	pursuit maintenance gain measurement
EFO:0008343	sex interaction measurement
EFO:0008007	age at assessment
EFO:0009270	heel bone mineral density
EFO:0004530	triglyceride measurement
EFO:0006335	systolic blood pressure
EFO:0009929	Beta blocking agent use measurement
EFO:0009928	Diuretic use measurement
EFO:0009930	Calcium channel blocker use measurement
EFO:0009931	Agents acting on the renin-angiotensin system use measurement
EFO:0004329	alcohol drinking
EFO:0006798	neuritic plaque measurement
EFO:0004531	urate measurement
EFO:0000195	metabolic syndrome
EFO:0004614	apolipoprotein A 1 measurement
EFO:0004615	apolipoprotein B measurement
EFO:0009819	comparative body size at age 10, self-reported
EFO:0004980	appendicular lean mass
EFO:0004842	eosinophil count
EFO:0007991	eosinophil percentage of leukocytes
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0004833	neutrophil count

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D004933	Esophageal Atresia	C06.198.330; C06.405.117.260; C16.131.314.330
D017219	Gastric Outlet Obstruction	C06.405.748.340
D011707	Pyloric Stenosis	C06.405.748.340.690

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation	4
Cadmium Chloride	decreases expression, increases abundance, increases expression	4
sodium arsenite	affects cotreatment, decreases expression, increases abundance, increases expression	3
bisphenol A	affects cotreatment, decreases methylation, decreases expression	2
Cisplatin	decreases expression	2
dicrotophos	increases expression	1
cobaltous chloride	decreases expression	1
butyraldehyde	decreases expression	1
manganese chloride	decreases expression, increases abundance	1
benzo(e)pyrene	affects methylation	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
aflatoxin B2	affects methylation	1
nickel sulfate	increases expression	1
coumarin	increases phosphorylation	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
Temozolomide	decreases expression	1
Arsenic Trioxide	affects cotreatment, increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Vorinostat	decreases expression	1
Leflunomide	increases expression	1
Acetaminophen	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Ethanol	affects cotreatment, increases abundance, increases expression	1
Arsenic	affects cotreatment, decreases expression, increases abundance, increases expression	1
Ascorbic Acid	affects cotreatment, increases expression	1
Atrazine	increases expression	1
Cadmium	decreases expression, increases abundance	1
Caffeine	decreases phosphorylation	1
Calcitriol	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00556283	PHASE4	COMPLETED	RCT: STARR vs Biofeedback
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
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
NCT03223480	PHASE2/PHASE3	COMPLETED	EUS - Guided Balloon-occluded Gastrojejunostomy Bypass
NCT01139853	EARLY_PHASE1	COMPLETED	Post-Operative Impact of Nasogastric Tubes on Rates of Emesis in Infants Diagnosed With Pyloric Stenosis
NCT00144924	Not specified	TERMINATED	Open vs Laparoscopic Pyloromyotomy for Pyloric Stenosis
NCT00409734	Not specified	COMPLETED	Frequency of Formula Change Prior to the Accurate Diagnosis of Pyloric Stenosis
NCT00487552	Not specified	TERMINATED	Magnetic Anastomosis Device Relief of Malignant Gastric Outlet Obstruction
NCT00991614	Not specified	COMPLETED	EVOLUTION® Duodenal Stent for Duodenal or Gastric Outlet Obstruction Caused by Malignant Neoplasms
NCT01839292	Not specified	COMPLETED	ComVi and D-type Stent in Malignant GOO