CLMP

Summary

CLMP (CXADR like cell adhesion molecule, HGNC:24039) is a protein-coding gene on chromosome 11q24.1, encoding CXADR-like membrane protein (Q9H6B4). May be involved in the cell-cell adhesion.

This gene encodes a type I transmembrane protein that is localized to junctional complexes between endothelial and epithelial cells and may have a role in cell-cell adhesion. Expression of this gene in white adipose tissue is implicated in adipocyte maturation and development of obesity. This gene is also essential for normal intestinal development and mutations in the gene are associated with congenital short bowel syndrome.

Source: NCBI Gene 79827 — RefSeq curated summary.

At a glance

• Gene–disease (curated): congenital short bowel syndrome, autosomal recessive (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 9
• Clinical variants (ClinVar): 71 total — 5 pathogenic, 4 likely-pathogenic
• Phenotypes (HPO): 23
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_024769

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24039
Approved symbol	CLMP
Name	CXADR like cell adhesion molecule
Location	11q24.1
Locus type	gene with protein product
Status	Approved
Aliases	ASAM, FLJ22415, ACAM
Ensembl gene	ENSG00000166250
Ensembl biotype	protein_coding
OMIM	611693
Entrez	79827

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 8 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000448775, ENST00000527977, ENST00000529128, ENST00000530371, ENST00000715744, ENST00000896644, ENST00000913019, ENST00000913020, ENST00000913021, ENST00000913022, ENST00000950922

RefSeq mRNA: 1 — MANE Select: NM_024769 NM_024769

CCDS: CCDS8441

Canonical transcript exons

ENST00000448775 — 7 exons

Exon	Start	End
ENSE00001134143	123097795	123097952
ENSE00001653164	123069872	123073774
ENSE00001766546	123074702	123074843
ENSE00002200579	123194913	123195248
ENSE00003470142	123083085	123083207
ENSE00003533571	123083680	123083847
ENSE00003561866	123084512	123084713

Expression profiles

Bgee: expression breadth ubiquitous, 220 present calls, max score 99.02.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.0163 / max 189.1763, expressed in 1173 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
122894	13.5992	1130
122896	1.7632	850
122893	0.3157	192
122895	0.2872	155
122892	0.0510	9

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cartilage tissue	UBERON:0002418	99.02	gold quality
stromal cell of endometrium	CL:0002255	97.12	gold quality
decidua	UBERON:0002450	96.62	gold quality
smooth muscle tissue	UBERON:0001135	95.91	gold quality
tibia	UBERON:0000979	95.58	gold quality
descending thoracic aorta	UBERON:0002345	94.21	gold quality
lower esophagus muscularis layer	UBERON:0035833	93.47	gold quality
lower esophagus	UBERON:0013473	93.42	gold quality
colonic epithelium	UBERON:0000397	93.19	gold quality
thoracic aorta	UBERON:0001515	93.09	gold quality
ascending aorta	UBERON:0001496	93.03	gold quality
ganglionic eminence	UBERON:0004023	92.92	gold quality
adipose tissue	UBERON:0001013	92.19	gold quality
muscle layer of sigmoid colon	UBERON:0035805	92.11	gold quality
synovial joint	UBERON:0002217	92.05	gold quality
layer of synovial tissue	UBERON:0007616	91.65	gold quality
calcaneal tendon	UBERON:0003701	91.48	gold quality
myometrium	UBERON:0001296	91.47	gold quality
gall bladder	UBERON:0002110	91.39	gold quality
subcutaneous adipose tissue	UBERON:0002190	91.24	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	91.12	gold quality
upper arm skin	UBERON:0004263	91.06	gold quality
thoracic mammary gland	UBERON:0005200	90.46	gold quality
body of uterus	UBERON:0009853	90.44	gold quality
mammary gland	UBERON:0001911	90.33	gold quality
mammary duct	UBERON:0001765	90.02	gold quality
epithelium of mammary gland	UBERON:0003244	89.74	gold quality
skin of hip	UBERON:0001554	89.73	gold quality
mammalian vulva	UBERON:0000997	89.58	gold quality
upper leg skin	UBERON:0004262	89.51	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-3929	yes	58.54
E-GEOD-135922	yes	57.44
E-ANND-3	yes	13.32
E-CURD-112	yes	13.11
E-MTAB-7303	no	71.88

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): GATA1, GATA6, KLF4, NR1I2, SP1, SP3

miRNA regulators (miRDB)

100 targeting CLMP, 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-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-1229-3P	99.97	66.49	906
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-576-5P	99.84	70.46	2582
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-2116-3P	99.74	64.32	889
HSA-MIR-4719	99.73	72.10	3329

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 12)

• ASAM, IGSF11, CXADR and ESAM are type I transmembrane proteins and members of the same IGSF superfamily. (PMID:12851705)
• CLMP is a novel cell-cell adhesion molecule and a new component of epithelial tight junctions. (PMID:14573622)
• We identified ACAM (adipocyte adhesion molecule), a novel homologue of the CTX (cortical thymocyte marker in Xenopus) gene family, which may be the critical adhesion molecule in adipocyte differentiation and development of obesity. (PMID:15563274)
• Loss-of-function mutations in CLMP cause congenital short bowel syndrome in human beings, likely by interfering with tight-junction formation, which disrupts intestinal development. (PMID:22155368)
• The PDZ1 and PDZ3 domains of MAGI-1 regulate the eight-exon isoform of the CXADR-like membrane protein. (PMID:22718816)
• Coxsackievirus and adenovirus receptor gene expression is induced in esophageal cancer cells by the HDAC inhibitor trichostatin A. (PMID:22992863)
• The key processes involved in intestinal epithelial development appear to be unaffected by wild type-CLMP or mutant-CLMP. (PMID:23460781)
• Novel inherited variants in CLMP were identified in three congenital short bowel syndrome patients derived from two unrelated families. (PMID:27352967)
• Inhibition of CFTR or histone deacetylase (HDAC) enhanced CAR expression while CFTR overexpression or restoration of the diminished HDAC activity in cystic fibrosis cells reduced CAR expression. (PMID:27527752)
• We describe a newborn presenting CSBS intestinal malrotation and chronic intestinal pseudo-obstruction syndrome (CIPS), compound heterozygous for two previously unreported heterozygous mutations in Coxsackie and adenovirus receptor-like membrane protein (CLMP) gene. We identified two heterozygous mutations in CLMP, one in intron 1 (c.28+1G>C) from the father, the other on exon 4 (c502C>T, p.R168X) from the mother. (PMID:27720179)
• CLMP Promotes Leukocyte Migration Across Brain Barriers in Multiple Sclerosis. (PMID:36241608)
• CXADR-Like Membrane Protein Regulates Colonic Epithelial Cell Proliferation and Prevents Tumor Growth. (PMID:37716376)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	jam2a	ENSDARG00000058996
danio_rerio	jam2b	ENSDARG00000079071
danio_rerio	si:dkey-22i16.9	ENSDARG00000095949
danio_rerio		ENSDARG00000116487
danio_rerio		ENSDARG00000116937
mus_musculus	Clmp	ENSMUSG00000032024
rattus_norvegicus	Clmp	ENSRNOG00000053239

Paralogs (14): VSIG2 (ENSG00000019102), VSIG1 (ENSG00000101842), VSIR (ENSG00000107738), GPA33 (ENSG00000143167), IGSF11 (ENSG00000144847), ESAM (ENSG00000149564), CXADR (ENSG00000154639), JAM2 (ENSG00000154721), F11R (ENSG00000158769), MXRA8 (ENSG00000162576), JAM3 (ENSG00000166086), MUC15 (ENSG00000169550), VSTM2B (ENSG00000187135), VSIG8 (ENSG00000243284)

Protein

Protein identifiers

CXADR-like membrane protein — Q9H6B4 (reviewed: Q9H6B4)

Alternative names: Adipocyte adhesion molecule, Coxsackie- and adenovirus receptor-like membrane protein

All UniProt accessions (1): Q9H6B4

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in the cell-cell adhesion. May play a role in adipocyte differentiation and development of obesity. Is required for normal small intestine development.

Subcellular location. Cell junction. Tight junction. Cell membrane.

Tissue specificity. Predominantly expressed in epithelial cells within different tissues and in the white adipose tissue. Expressed at high levels in small intestine and placenta, at intermediate levels in the heart, skeletal muscle, colon, spleen, kidney and lung and at low levels in the liver and peripheral blood leukocytes. Highly abundant in the intestine during embryo and fetal development (at protein level).

Disease relevance. Congenital short bowel syndrome (CSBS) [MIM:615237] A disease characterized by a shortened small intestine, intestinal malrotation, and malabsorption. The mean length of the small intestine in CSBS patients is approximately 50 cm, compared with a normal length at birth of 190-280 cm. Patients with CSBS may develop severe malnutrition as a result of the hugely reduced absorptive surface of the small intestine. Infants require parenteral nutrition for survival. However, parenteral nutrition itself causes life-threatening complications such as sepsis and liver failure which are associated with a high rate of mortality early in life. The disease is caused by variants affecting the gene represented in this entry.

Induction. Up-regulated in mature adipocytes and adipocyte tissue of obese individuals.

RefSeq proteins (1): NP_079045* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003598	Ig_sub2	Domain
IPR003599	Ig_sub	Domain
IPR007110	Ig-like_dom	Domain
IPR013106	Ig_V-set	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR042454	CLMP	Family

Pfam: PF07686, PF13895

UniProt features (17 total): compositionally biased region 3, glycosylation site 2, disulfide bond 2, sequence variant 2, topological domain 2, domain 2, signal peptide 1, chain 1, transmembrane region 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H6B4-F1	77.52	0.54

Functional residue map

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

Disulfide bonds (2): 35–111, 153–208

Glycosylation sites (2): 74, 197

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 159 (showing top): GOCC_CELL_SURFACE, CACCAGC_MIR138, GGGTGGRR_PAX4_03, GOBP_CELL_CELL_SIGNALING, GTGCCTT_MIR506, GOBP_DIGESTIVE_SYSTEM_DEVELOPMENT, PICCALUGA_ANGIOIMMUNOBLASTIC_LYMPHOMA_UP, FOSTER_TOLERANT_MACROPHAGE_DN, GOZGIT_ESR1_TARGETS_UP, GOBP_SYNAPTIC_SIGNALING, CHARAFE_BREAST_CANCER_LUMINAL_VS_BASAL_DN, GOCC_CELL_CELL_JUNCTION, GOCC_POSTSYNAPSE, GOCC_SYNAPSE, GOCC_POSTSYNAPTIC_MEMBRANE

GO Biological Process (2): digestive tract development (GO:0048565), postsynaptic modulation of chemical synaptic transmission (GO:0099170)

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

GO Cellular Component (8): cytoplasmic microtubule (GO:0005881), bicellular tight junction (GO:0005923), cell surface (GO:0009986), postsynaptic membrane (GO:0045211), plasma membrane (GO:0005886), membrane (GO:0016020), cell junction (GO:0030054), anchoring junction (GO:0070161)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
postsynapse	2
tube development	1
digestive system development	1
modulation of chemical synaptic transmission	1
binding	1
cytoplasm	1
microtubule	1
apical junction complex	1
tight junction	1
synaptic membrane	1
membrane	1
cell periphery	1
cell junction	1

Protein interactions and networks

STRING

558 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CLMP	TFPI	P10646	774
CLMP	OGG1	P78554	711
CLMP	OCLN	Q16625	606
CLMP	ERCC6	Q03468	593
CLMP	IGSF5	Q9NSI5	565
CLMP	TJP1	Q07157	551
CLMP	CDH2	P19022	546
CLMP	FKBP1B	P68106	529
CLMP	INKA2	Q9NTI7	519
CLMP	XPA	P23025	507
CLMP	CLDN11	O75508	499
CLMP	XAB2	Q9HCS7	487
CLMP	CDH3	P22223	443
CLMP	LEPR	P48357	424
CLMP	GALNT17	Q6IS24	408

IntAct

7 interactions, top by confidence:

A	B	Type	Score
LCN2	CLMP	psi-mi:“MI:0915”(physical association)	0.560
CLMP	UTP20	psi-mi:“MI:0914”(association)	0.530
CLMP	CLMP	psi-mi:“MI:0915”(physical association)	0.400
CLMP	LCN2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (17): KIF14 (Affinity Capture-MS), IP6K1 (Affinity Capture-MS), UTP20 (Affinity Capture-MS), KIDINS220 (Affinity Capture-MS), RRP1 (Affinity Capture-MS), MLST8 (Affinity Capture-MS), CLMP (Synthetic Lethality), CLMP (Two-hybrid), CLMP (Affinity Capture-MS), KIDINS220 (Affinity Capture-MS), KIF14 (Affinity Capture-MS), MLST8 (Affinity Capture-MS), IP6K1 (Affinity Capture-MS), UTP20 (Affinity Capture-MS), CLMP (PCA)

ESM2 similar proteins: A0A0R4IGV4, A0A8M2B818, A0JM41, A2VD98, A5D7C3, O54901, O60487, O70255, O88775, P04218, P06907, P10522, P14719, P20938, P21995, P25189, P27573, P31041, P37301, P78310, P97792, Q1WIM2, Q3V3F6, Q5EAB0, Q5FWR8, Q5R764, Q5R804, Q5VJ70, Q61098, Q62611, Q640U3, Q6DJ83, Q6UWV2, Q6WEB5, Q7TSN7, Q86XK7, Q8AVM3, Q8BLQ9, Q8K1G0, Q8N3J6

Diamond homologs: A2AJ76, D3YXG0, P09564, P0C673, P78310, Q08DK1, Q08E08, Q29RR6, Q4KLY3, Q5DX21, Q5R764, Q5U2P2, Q6AYD4, Q6WRH9, Q6WRI0, Q86XK7, Q8K1G0, Q8NDA2, Q8R373, Q90W79, Q90Y50, Q91664, Q925F2, Q92626, Q96IQ7, Q96JA1, Q96RW7, Q99795, Q9D2J4, Q9H6B4, Q9JMB8, Q9P232, Q9PWR4, Q9UQ52, Q9XT56, Q9Y624, Q9Z109, P33681, P42070, Q00609

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	4
Uncertain significance	46
Likely benign	5
Benign	5

Top pathogenic / likely-pathogenic (9)

Variant ID	HGVS	Classification
1069033	NM_024769.5(CLMP):c.421G>T (p.Gly141Ter)	Pathogenic
50383	NM_024769.5(CLMP):c.230del (p.Glu77fs)	Pathogenic
50384	NM_024769.5(CLMP):c.821G>A (p.Arg274Gln)	Pathogenic
50385	NM_024769.5(CLMP):c.664C>T (p.Arg222Ter)	Pathogenic
50386	NM_024769.5(CLMP):c.371T>A (p.Val124Asp)	Pathogenic
2431641	NM_024769.5(CLMP):c.28+1G>A	Likely pathogenic
2500824	NM_024769.5(CLMP):c.574C>T (p.Arg192Ter)	Likely pathogenic
3383207	NM_024769.5(CLMP):c.23T>A (p.Leu8Ter)	Likely pathogenic
4845683	NM_024769.5(CLMP):c.244C>T (p.Arg82Ter)	Likely pathogenic

SpliceAI

1995 predictions. Top by Δscore:

Variant	Effect	Δscore
11:123076406:C:CT	acceptor_gain	1.0000
11:123083079:GCTT:G	donor_loss	1.0000
11:123083080:CTTAC:C	donor_loss	1.0000
11:123083082:TAC:T	donor_gain	1.0000
11:123083083:A:AC	donor_gain	1.0000
11:123083083:ACA:A	donor_gain	1.0000
11:123083084:C:CC	donor_gain	1.0000
11:123083084:C:CG	donor_loss	1.0000
11:123083084:CA:C	donor_gain	1.0000
11:123083084:CAC:C	donor_gain	1.0000
11:123083084:CACT:C	donor_gain	1.0000
11:123083087:TG:T	donor_gain	1.0000
11:123083114:T:A	donor_gain	1.0000
11:123083203:GTAGT:G	acceptor_gain	1.0000
11:123083204:TAGT:T	acceptor_gain	1.0000
11:123083204:TAGTC:T	acceptor_loss	1.0000
11:123083205:AGTC:A	acceptor_loss	1.0000
11:123083206:GT:G	acceptor_gain	1.0000
11:123083206:GTC:G	acceptor_loss	1.0000
11:123083207:TCTGC:T	acceptor_loss	1.0000
11:123083208:C:CC	acceptor_gain	1.0000
11:123083209:T:A	acceptor_loss	1.0000
11:123083673:GACTT:G	donor_loss	1.0000
11:123083674:ACTT:A	donor_loss	1.0000
11:123083675:CTT:C	donor_loss	1.0000
11:123083676:TTA:T	donor_loss	1.0000
11:123083677:TACCA:T	donor_loss	1.0000
11:123083678:A:C	donor_loss	1.0000
11:123083679:CCA:C	donor_gain	1.0000
11:123083679:CCAAT:C	donor_gain	1.0000

AlphaMissense

2374 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:123083141:C:G	C208S	0.999
11:123083142:A:T	C208S	0.999
11:123083738:C:A	W166C	0.999
11:123083738:C:G	W166C	0.999
11:123097828:C:A	W51C	0.999
11:123097828:C:G	W51C	0.999
11:123097830:A:G	W51R	0.999
11:123097830:A:T	W51R	0.999
11:123083142:A:G	C208R	0.998
11:123083779:A:G	C153R	0.998
11:123084567:A:C	C111W	0.998
11:123084568:C:G	C111S	0.998
11:123084568:C:T	C111Y	0.998
11:123084569:A:G	C111R	0.998
11:123084569:A:T	C111S	0.998
11:123084575:A:C	Y109D	0.998
11:123084613:A:G	L96S	0.998
11:123084646:A:C	F85C	0.998
11:123097883:A:G	L33S	0.998
11:123083140:G:C	C208W	0.997
11:123083148:A:C	Y206D	0.997
11:123083778:C:G	C153S	0.997
11:123083779:A:T	C153S	0.997
11:123084574:T:G	Y109S	0.997
11:123097829:C:G	W51S	0.997
11:123097876:G:C	C35W	0.997
11:123097877:C:G	C35S	0.997
11:123097877:C:T	C35Y	0.997
11:123097878:A:G	C35R	0.997
11:123097878:A:T	C35S	0.997

dbSNP variants (sampled 300 via entrez): RS1000020312 (11:123078832 G>GA), RS1000021595 (11:123128038 A>G), RS1000050730 (11:123189363 C>G,T), RS1000070081 (11:123184348 G>A), RS1000135853 (11:123112344 T>C), RS1000155653 (11:123195588 C>G), RS1000160122 (11:123151666 C>A,T), RS1000183852 (11:123155906 G>A), RS1000223444 (11:123085781 T>A,G), RS1000230482 (11:123072670 G>T), RS1000255758 (11:123155683 A>C), RS1000257983 (11:123195162 G>A), RS1000281013 (11:123139453 G>A,T), RS1000296229 (11:123077118 T>A,C), RS1000313589 (11:123133393 T>C)

Disease associations

OMIM: gene MIM:611693 | disease phenotypes: MIM:615237

GenCC curated gene-disease

Disease	Classification	Inheritance
congenital short bowel syndrome, autosomal recessive	Strong	Autosomal recessive
congenital short bowel syndrome	Supportive	Autosomal recessive

Mondo (3): congenital short bowel syndrome, autosomal recessive (MONDO:0020718), intestinal pseudo-obstruction (MONDO:0002803), congenital short bowel syndrome (MONDO:0014097)

Orphanet (0):

HPO phenotypes

23 total (23 of 23 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0001508	Failure to thrive
HP:0001942	Metabolic acidosis
HP:0001944	Dehydration
HP:0001984	Intolerance to protein
HP:0002013	Vomiting
HP:0002028	Chronic diarrhea
HP:0002566	Intestinal malrotation
HP:0002570	Steatorrhea
HP:0002587	Projectile vomiting
HP:0003270	Abdominal distention
HP:0003577	Congenital onset
HP:0003593	Infantile onset
HP:0004322	Short stature
HP:0005245	Intestinal hypoplasia
HP:0008070	Sparse hair
HP:0011100	Intestinal atresia
HP:0030889	Congenital shortened small intestine
HP:0030897	Decreased intestinal transit time
HP:0030914	Abnormal peristalsis
HP:0100543	Cognitive impairment
HP:0100578	Lipoatrophy
HP:0100627	Displacement of the urethral meatus

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST003142_1	Proteinuria in chronic kidney disease	7.000000e-06
GCST004621_28	Red cell distribution width	4.000000e-10
GCST004864_7	Perceived unattractiveness to mosquitoes	7.000000e-07
GCST005992_33	Mean corpuscular hemoglobin concentration	5.000000e-23
GCST006585_561	Blood protein levels	2.000000e-24
GCST006804_169	Red cell distribution width	2.000000e-09
GCST006979_232	Heel bone mineral density	3.000000e-10
GCST90002392_363	Mean corpuscular volume	4.000000e-11
GCST90014033_102	Haemorrhoidal disease	1.000000e-13

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0009188	Red cell distribution width
EFO:0008380	perceived unattractiveness to mosquitos measurement
EFO:0004528	mean corpuscular hemoglobin concentration
EFO:0009270	heel bone mineral density

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D007418	Intestinal Pseudo-Obstruction	C06.405.469.531.492.500

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	increases oxidation, decreases expression, increases expression, affects cotreatment, increases abundance	4
Aflatoxin B1	affects expression, increases expression, increases methylation	4
Valproic Acid	affects expression, decreases expression	3
Particulate Matter	increases abundance, increases expression, decreases expression	3
bisphenol A	decreases methylation, affects cotreatment, increases expression	2
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	2
potassium chromate(VI)	affects cotreatment, decreases expression	2
monomethylarsonous acid	decreases expression, increases expression	2
(+)-JQ1 compound	decreases expression	2
Benzo(a)pyrene	decreases methylation, increases expression	2
Estradiol	affects expression, increases expression	2
Tetrachlorodibenzodioxin	increases expression	2
Tobacco Smoke Pollution	decreases expression, increases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
propionaldehyde	increases expression	1
kojic acid	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
manganese chloride	increases abundance, increases expression, affects cotreatment	1
hydroquinone	increases expression	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression	1
diallyl trisulfide	increases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	decreases expression	1
CGP 52608	affects binding, increases reaction	1
erucylphospho-N,N,N-trimethylpropylammonium	increases expression	1
bisphenol S	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01793168	Not specified	RECRUITING	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
NCT03662672	Not specified	COMPLETED	Rib Raising for Post-operative Ileus
NCT04981262	Not specified	COMPLETED	Improved Quality of Life in Children With Intestinal Failure
NCT06020365	Not specified	COMPLETED	Investigation of Fecal Microbiota Transplant in Chronic Intestinal Pseudo-obstruction Patients
NCT06711107	Not specified	ACTIVE_NOT_RECRUITING	Predicting NOM Failure in Bowel Obstruction