CHORDC1

Summary

CHORDC1 (cysteine and histidine rich domain containing 1, HGNC:14525) is a protein-coding gene on chromosome 11q14.3, encoding Cysteine and histidine-rich domain-containing protein 1 (Q9UHD1). Regulates centrosome duplication, probably by inhibiting the kinase activity of ROCK2. It is a common-essential gene (DepMap: required in 90.6% of cancer cell lines).

Enables Hsp90 protein binding activity. Predicted to be involved in several processes, including centrosome duplication; chaperone-mediated protein folding; and negative regulation of Rho-dependent protein serine/threonine kinase activity.

Source: NCBI Gene 26973 — RefSeq curated summary.

At a glance

• Gene–disease (curated): spastic ataxia 9, autosomal recessive (Limited, GenCC)
• GWAS associations: 8
• Clinical variants (ClinVar): 69 total — 1 pathogenic
• Phenotypes (HPO): 26
• Cancer dependency (DepMap): dependent in 90.6% of screened cell lines (common-essential)
• MANE Select transcript: NM_012124

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14525
Approved symbol	CHORDC1
Name	cysteine and histidine rich domain containing 1
Location	11q14.3
Locus type	gene with protein product
Status	Approved
Aliases	CHP1, CHP-1
Ensembl gene	ENSG00000110172
Ensembl biotype	protein_coding
OMIM	604353
Entrez	26973

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 6 protein_coding, 4 nonsense_mediated_decay, 2 retained_intron

ENST00000320585, ENST00000457199, ENST00000525317, ENST00000529402, ENST00000529726, ENST00000529987, ENST00000530765, ENST00000533062, ENST00000533724, ENST00000533739, ENST00000533772, ENST00000907759

RefSeq mRNA: 2 — MANE Select: NM_012124 NM_001144073, NM_012124

CCDS: CCDS44705, CCDS8289

Canonical transcript exons

ENST00000320585 — 11 exons

Exon	Start	End
ENSE00000743970	90210536	90210594
ENSE00000743992	90211215	90211318
ENSE00001325580	90200429	90202551
ENSE00002147896	90222891	90223049
ENSE00003484610	90203308	90203427
ENSE00003546547	90214018	90214175
ENSE00003549320	90202813	90202875
ENSE00003554708	90205460	90205565
ENSE00003632078	90206202	90206272
ENSE00003635738	90218135	90218184
ENSE00003681935	90215174	90215230

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 97.06.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 53.8511 / max 767.7653, expressed in 1820 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
121802	33.1665	1799
121803	20.6846	1796

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus callosum	UBERON:0002336	97.06	gold quality
endometrium	UBERON:0001295	95.00	gold quality
ventricular zone	UBERON:0003053	94.20	gold quality
lymph node	UBERON:0000029	93.28	gold quality
islet of Langerhans	UBERON:0000006	93.07	gold quality
adrenal tissue	UBERON:0018303	92.27	gold quality
hypothalamus	UBERON:0001898	92.16	gold quality
monocyte	CL:0000576	91.79	gold quality
vermiform appendix	UBERON:0001154	91.62	gold quality
placenta	UBERON:0001987	91.52	gold quality
leukocyte	CL:0000738	91.50	gold quality
adenohypophysis	UBERON:0002196	91.42	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	91.38	gold quality
Brodmann (1909) area 9	UBERON:0013540	91.29	gold quality
superior frontal gyrus	UBERON:0002661	91.12	gold quality
tonsil	UBERON:0002372	91.09	gold quality
ganglionic eminence	UBERON:0004023	91.02	gold quality
anterior cingulate cortex	UBERON:0009835	91.02	gold quality
Ammon’s horn	UBERON:0001954	90.96	gold quality
cortical plate	UBERON:0005343	90.92	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	90.90	gold quality
hindlimb stylopod muscle	UBERON:0004252	90.84	gold quality
prefrontal cortex	UBERON:0000451	90.79	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	90.78	gold quality
pituitary gland	UBERON:0000007	90.70	gold quality
substantia nigra	UBERON:0002038	90.62	gold quality
cerebral cortex	UBERON:0000956	90.48	gold quality
caudate nucleus	UBERON:0001873	90.47	gold quality
ovary	UBERON:0000992	90.39	gold quality
left ovary	UBERON:0002119	90.35	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	12.61

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): STAT5A, STAT5B

miRNA regulators (miRDB)

151 targeting CHORDC1, 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-6867-5P	100.00	82.21	3464
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-551B-5P	99.96	71.28	3493

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 90.6% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 8)

• This paper described the cloning of a barley CHORD containing protein, but it also described the CHORD containing proteins in other species including human and characterized the CHORD domains. (PMID:10571178)
• A novel ADP-dependent HSP90 interaction with the cysteine- and histidine-rich domain (CHORD)-containing protein CHORDC1, is characterized. (PMID:19875381)
• Chp-1 and melusin can interact with cochaperones PP5 and Sgt1 and with each other in an ATP-dependent manner (PMID:23184943)
• morgana causes PTEN destabilization, by inhibiting ROCK activity (PMID:24615293)
• suppression of miR-26b expression up-regulates its target gene CHORDC1, which increases HBV enhancer/promoter activities and promotes viral transcription, gene expression, and replication (PMID:25342750)
• NF-kappaB activation in breast cancer cells depends on the presence of the CHORDC1 gene product Morgana. (PMID:29158506)
• CHORDC1, the novel interacting partner of tau protein. (PMID:38953578)
• miR-15a targets the HSP90 co-chaperone Morgana in chronic myeloid leukemia. (PMID:38956394)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	chordc1a	ENSDARG00000003973
danio_rerio	chordc1b	ENSDARG00000017067
mus_musculus	Chordc1	ENSMUSG00000001774
rattus_norvegicus	Chordc1	ENSRNOG00000026643

Paralogs (1): ITGB1BP2 (ENSG00000147166)

Protein

Protein identifiers

Cysteine and histidine-rich domain-containing protein 1 — Q9UHD1 (reviewed: Q9UHD1)

Alternative names: CHORD domain-containing protein 1, Protein morgana

All UniProt accessions (7): Q9UHD1, E9PHZ2, E9PIF7, E9PIZ4, E9PL00, E9PPQ5, E9PSD5

UniProt curated annotations — full annotation on UniProt →

Function. Regulates centrosome duplication, probably by inhibiting the kinase activity of ROCK2. Proposed to act as co-chaperone for HSP90. May play a role in the regulation of NOD1 via a HSP90 chaperone complex. In vitro, has intrinsic chaperone activity. This function may be achieved by inhibiting association of ROCK2 with NPM1. Plays a role in ensuring the localization of the tyrosine kinase receptor EGFR to the plasma membrane, and thus ensures the subsequent regulation of EGFR activity and EGF-induced actin cytoskeleton remodeling. Involved in stress response. Prevents tumorigenesis.

Subunit / interactions. Interacts with HSP90AA1, ROCK1 and ROCK2. Interacts with HSP90AB1 and PPP5C.

Tissue specificity. Underexpressed in many breast and lung cancers.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9UHD1-1	1	yes
Q9UHD1-2	2

RefSeq proteins (2): NP_001137545, NP_036256* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007051	CHORD_dom	Domain
IPR007052	CS_dom	Domain
IPR008978	HSP20-like_chaperone	Homologous_superfamily
IPR039790	CHRD1	Family

Pfam: PF04968, PF04969

UniProt features (37 total): binding site 16, domain 3, modified residue 3, turn 3, strand 3, sequence conflict 2, region of interest 2, initiator methionine 1, chain 1, splice variant 1, sequence variant 1, helix 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2YRT	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UHD1-F1	81.69	0.50

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 (16): 27; 42; 43; 59; 64; 157; 162; 176; 179; 194; 195; 211 …

Post-translational modifications (3): 2, 47, 51

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 635 (showing top): GOBP_POTASSIUM_ION_TRANSPORT, AP1_01, AAGCAAT_MIR137, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_CYTOPLASMIC_MICROTUBULE_ORGANIZATION, GOBP_REGULATION_OF_CALCIUM_MEDIATED_SIGNALING, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GOBP_REGULATION_OF_PHOSPHORYLATION, GOBP_NEGATIVE_REGULATION_OF_KINASE_ACTIVITY, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_REGULATION_OF_PHOSPHATASE_ACTIVITY, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, LFA1_Q6, GOBP_SODIUM_ION_TRANSMEMBRANE_TRANSPORT, KEGG_MAPK_SIGNALING_PATHWAY

GO Biological Process (4): protein folding (GO:0006457), regulation of centrosome duplication (GO:0010824), centrosome duplication (GO:0051298), regulation of cellular response to heat (GO:1900034)

GO Molecular Function (6): ATP binding (GO:0005524), zinc ion binding (GO:0008270), ADP binding (GO:0043531), Hsp90 protein binding (GO:0051879), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
adenyl ribonucleotide binding	2
cellular process	1
protein maturation	1
regulation of centrosome cycle	1
centrosome duplication	1
centrosome cycle	1
cell cycle process	1
cellular response to heat	1
regulation of cellular response to stress	1
purine ribonucleoside triphosphate binding	1
transition metal ion binding	1
anion binding	1
heat shock protein binding	1
binding	1
cation binding	1

Protein interactions and networks

STRING

1254 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CHORDC1	HSP90AA1	P07900	710
CHORDC1	AHSA1	O95433	637
CHORDC1	PFDN4	Q9NQP4	623
CHORDC1	HSP90AB1	P08238	622
CHORDC1	SHC4	Q6S5L8	580
CHORDC1	NUDC	Q9Y266	522
CHORDC1	PTGES3	Q15185	461
CHORDC1	FKBP10	Q96AY3	452
CHORDC1	FKBP6	O75344	438
CHORDC1	SUGT1	Q9Y2Z0	429
CHORDC1	CDC37	Q16543	421
CHORDC1	USP19	O94966	416
CHORDC1	CACYBP	Q9HB71	415
CHORDC1	WSB1	Q9Y6I7	404
CHORDC1	NUDT17	P0C025	401

IntAct

96 interactions, top by confidence:

A	B	Type	Score
HSP90AB1	CHORDC1	psi-mi:“MI:0915”(physical association)	0.800
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
	TOMM70	psi-mi:“MI:0914”(association)	0.690
HSP90AA1	CHORDC1	psi-mi:“MI:0915”(physical association)	0.680
CHORDC1	HSP90AA1	psi-mi:“MI:0915”(physical association)	0.680
HSP90AA1	CHUK	psi-mi:“MI:0914”(association)	0.670
GPX7	GAK	psi-mi:“MI:0914”(association)	0.640
HSP90AA1	USP19	psi-mi:“MI:0914”(association)	0.530
SNRNP27	UBA6	psi-mi:“MI:0914”(association)	0.530
CYP1A1	SNX3	psi-mi:“MI:0914”(association)	0.530
GPS1	PXDNL	psi-mi:“MI:0914”(association)	0.530
DDX21	MED19	psi-mi:“MI:2364”(proximity)	0.480
CHORDC1	CHORDC1	psi-mi:“MI:0915”(physical association)	0.400
CHORDC1	EDRF1	psi-mi:“MI:0915”(physical association)	0.400
	TK2	psi-mi:“MI:0915”(physical association)	0.400
WLS	CHORDC1	psi-mi:“MI:0915”(physical association)	0.370
OTUB1		psi-mi:“MI:0914”(association)	0.350
OTUB1	EPM2A	psi-mi:“MI:0914”(association)	0.350
CHORDC1	SSR3	psi-mi:“MI:0914”(association)	0.350
DLD	NFKBIE	psi-mi:“MI:0914”(association)	0.350
DLST		psi-mi:“MI:0914”(association)	0.350

BioGRID (170): EDRF1 (Affinity Capture-MS), ASPDH (Co-fractionation), CHORDC1 (Co-fractionation), CHORDC1 (Co-fractionation), CHORDC1 (Co-fractionation), CHORDC1 (Co-fractionation), CHORDC1 (Co-fractionation), TTC37 (Co-fractionation), CAPN2 (Affinity Capture-MS), HSP90AA1 (Affinity Capture-MS), HSP90AB1 (Affinity Capture-MS), DDR2 (Affinity Capture-MS), SSR3 (Affinity Capture-MS), STX3 (Affinity Capture-MS), YWHAB (Affinity Capture-MS)

ESM2 similar proteins: A0JMY5, A2YEZ6, A3BDI8, A6QLA0, A9YUB1, B1AY10, D4A4T9, E0X9N4, O74853, P40798, P47226, P53971, Q09YN8, Q0D5B9, Q108U9, Q12986, Q15326, Q17QE2, Q18034, Q29RL2, Q2IBC3, Q2LAP6, Q2QLA1, Q2QLG8, Q4R7U2, Q54BK0, Q5PXT2, Q5R966, Q5RD91, Q5U2P3, Q5ZA07, Q5ZML4, Q67YE6, Q6DIR5, Q6IDS6, Q6NUA0, Q6ZNB6, Q7ZXE9, Q8N6M9, Q8R5C8

Diamond homologs: A9YUB1, D4A4T9, G5EEI8, Q0JL44, Q29RL2, Q462R2, Q4R7U2, Q55ED0, Q5RD91, Q5ZML4, Q6EPW7, Q6NUA0, Q7T3F7, Q9D1P4, Q9R000, Q9SE33, Q9SUR9, Q9SUT5, Q9UHD1, Q9UKP3, Q9VCC0, A0A3L6DPG1, A6HD62, B0BN85, C4NYP8, F8RP11, O13797, O59709, P0CT30, P15705, P23231, P50502, P50503, P53041, P53042, Q07617, Q08446, Q12118, Q28IV3, Q2KIK0

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 105 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
ESR-mediated signaling	5	9.2×	7e-03
Processing of Capped Intron-Containing Pre-mRNA	6	7.0×	7e-03
mRNA Splicing - Major Pathway	7	5.5×	8e-03

GO biological processes:

GO term	Partners	Fold	FDR
protein folding	9	10.0×	3e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	42
Likely benign	3
Benign	2

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
632545	NM_007236.5(CHP1):c.52AAG[1] (p.Lys19del)	Pathogenic

SpliceAI

3508 predictions. Top by Δscore:

Variant	Effect	Δscore
11:90202549:CAC:C	acceptor_gain	1.0000
11:90202549:CACCT:C	acceptor_loss	1.0000
11:90202550:ACCT:A	acceptor_loss	1.0000
11:90202551:CCTG:C	acceptor_loss	1.0000
11:90202552:CTGT:C	acceptor_loss	1.0000
11:90202811:A:AC	donor_gain	1.0000
11:90202811:ACAC:A	donor_gain	1.0000
11:90202811:ACACC:A	donor_gain	1.0000
11:90202812:C:CC	donor_gain	1.0000
11:90202812:CA:C	donor_gain	1.0000
11:90202812:CACC:C	donor_gain	1.0000
11:90202812:CACCC:C	donor_gain	1.0000
11:90202871:TTTAA:T	acceptor_gain	1.0000
11:90202872:TTAA:T	acceptor_gain	1.0000
11:90202873:TAA:T	acceptor_gain	1.0000
11:90202873:TAAC:T	acceptor_loss	1.0000
11:90202874:AACTG:A	acceptor_loss	1.0000
11:90202876:C:CC	acceptor_gain	1.0000
11:90203303:CTTA:C	donor_loss	1.0000
11:90203304:TTACC:T	donor_loss	1.0000
11:90203305:TACC:T	donor_loss	1.0000
11:90203306:A:AC	donor_gain	1.0000
11:90203306:A:C	donor_loss	1.0000
11:90203306:AC:A	donor_gain	1.0000
11:90203307:C:CA	donor_gain	1.0000
11:90203307:C:T	donor_loss	1.0000
11:90203307:CC:C	donor_gain	1.0000
11:90203307:CCA:C	donor_gain	1.0000
11:90203307:CCAA:C	donor_gain	1.0000
11:90203307:CCAAT:C	donor_gain	1.0000

AlphaMissense

2201 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:90202470:A:G	W312R	1.000
11:90202470:A:T	W312R	1.000
11:90205514:G:C	F205L	1.000
11:90205514:G:T	F205L	1.000
11:90205515:A:G	F205S	1.000
11:90205516:A:G	F205L	1.000
11:90205523:A:C	F202L	1.000
11:90205523:A:T	F202L	1.000
11:90205524:A:C	F202C	1.000
11:90205524:A:G	F202S	1.000
11:90205525:A:G	F202L	1.000
11:90205553:C:A	W192C	1.000
11:90205553:C:G	W192C	1.000
11:90205555:A:G	W192R	1.000
11:90205555:A:T	W192R	1.000
11:90205559:T:A	K190N	1.000
11:90205559:T:G	K190N	1.000
11:90205561:T:C	K190E	1.000
11:90206209:G:C	H186D	1.000
11:90206210:G:C	F185L	1.000
11:90206210:G:T	F185L	1.000
11:90206211:A:C	F185C	1.000
11:90206211:A:G	F185S	1.000
11:90206212:A:C	F185V	1.000
11:90206212:A:G	F185L	1.000
11:90206230:G:C	H179D	1.000
11:90215186:G:C	F53L	1.000
11:90215186:G:T	F53L	1.000
11:90215187:A:G	F53S	1.000
11:90215188:A:G	F53L	1.000

dbSNP variants (sampled 300 via entrez): RS1000180018 (11:90215389 T>C), RS1000457412 (11:90204931 G>C), RS1000583966 (11:90216900 T>C), RS1000623950 (11:90222153 A>T), RS1000663717 (11:90222499 T>C), RS1000676090 (11:90221923 T>C), RS1000693319 (11:90220928 A>G), RS1000828024 (11:90204690 C>G), RS1000828807 (11:90204147 A>C,G), RS1000917045 (11:90200117 T>C), RS1000922961 (11:90216682 G>A), RS1001134949 (11:90216952 A>C,G), RS1001384468 (11:90210401 T>C), RS1001530725 (11:90208898 T>C), RS1001594913 (11:90216304 C>T)

Disease associations

OMIM: gene MIM:604353 | disease phenotypes: MIM:618438

GenCC curated gene-disease

Disease	Classification	Inheritance
spastic ataxia 9, autosomal recessive	Limited	Unknown

Mondo (2): spastic ataxia 9, autosomal recessive (MONDO:0032753), neurodevelopmental disorder (MONDO:0700092)

Orphanet (0):

HPO phenotypes

26 total (26 of 26 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000514	Slow saccadic eye movements
HP:0001249	Intellectual disability
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001257	Spasticity
HP:0001310	Dysmetria
HP:0001347	Hyperreflexia
HP:0001510	Growth delay
HP:0001761	Pes cavus
HP:0001765	Hammertoe
HP:0002359	Frequent falls
HP:0002460	Distal muscle weakness
HP:0002750	Delayed skeletal maturation
HP:0003487	Babinski sign
HP:0003621	Juvenile onset
HP:0003693	Distal amyotrophy
HP:0006855	Cerebellar vermis atrophy
HP:0006886	Impaired distal vibration sensation
HP:0007256	Abnormal pyramidal sign
HP:0007663	Reduced visual acuity
HP:0007941	Limited extraocular movements
HP:0008209	Premature ovarian insufficiency
HP:0008936	Axial hypotonia
HP:0011463	Childhood onset
HP:0031993	Hoffmann sign

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST004133_26	Ulcerative colitis	3.000000e-07
GCST004618_17	White blood cell count (basophil)	7.000000e-10
GCST004631_54	Basophil percentage of white cells	2.000000e-10
GCST007563_20	Allergic disease (asthma, hay fever or eczema)	4.000000e-08
GCST007876_96	Estimated glomerular filtration rate	1.000000e-13
GCST010774_33	Essential hypertension (time to event)	5.000000e-08
GCST90002379_93	Basophil count	4.000000e-11
GCST90002407_586	White blood cell count	6.000000e-11

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0005090	basophil count
EFO:0007992	basophil percentage of leukocytes
EFO:0004918	age at diagnosis

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects cotreatment, increases expression, increases abundance, decreases expression	4
Arsenic	increases methylation, increases abundance, increases expression, affects cotreatment, decreases expression	4
bisphenol A	decreases expression	2
deoxynivalenol	increases expression	2
arsenite	affects binding, increases reaction, increases methylation	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, increases expression, affects cotreatment	2
bisphenol AF	increases expression	2
Silver	increases expression	2
Tobacco Smoke Pollution	affects expression, increases expression	2
Cyclosporine	increases expression	2
Aflatoxin B1	affects expression, increases expression	2
aristolochic acid I	decreases expression	1
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	increases expression	1
GSK-J4	increases expression	1
TAK-243	decreases sumoylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
lead acetate	affects cotreatment, increases expression	1
sodium arsenate	increases abundance, increases expression	1
pyrogallol 1,3-dimethyl ether	affects localization, decreases expression, affects cotreatment	1
2-methyl-4-isothiazolin-3-one	increases expression	1
methylparaben	increases expression	1
sulforaphane	increases expression	1
cobaltous chloride	increases expression	1
perfluorooctanoic acid	increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
ochratoxin A	increases expression	1
potassium chromate(VI)	increases expression	1
cupric chloride	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	PHASE1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT01783041	PHASE2/PHASE3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385	PHASE2/PHASE3	RECRUITING	Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098	EARLY_PHASE1	NOT_YET_RECRUITING	Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy
NCT00783783	Not specified	COMPLETED	CYP2D6 Pharmacogenetics in Risperidone-Treated Children
NCT01778504	Not specified	RECRUITING	Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders
NCT01850784	Not specified	UNKNOWN	High Energy Formula Feeding in Infants With Congenital Heart Disease
NCT01922791	Not specified	COMPLETED	Nutrition and Pregnancy Intervention Study
NCT01942525	Not specified	UNKNOWN	Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants
NCT02003170	Not specified	COMPLETED	Etiology and Early Diagnosis of Neurodevelopmental Disorders
NCT02118649	Not specified	ACTIVE_NOT_RECRUITING	Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game
NCT02557191	Not specified	TERMINATED	Biomarkers, Neurodevelopment and Preterm Infants
NCT02690675	Not specified	COMPLETED	Iron Supplement Effect on Child Development
NCT02694003	Not specified	COMPLETED	Better Nights, Better Days for Children With Neurodevelopment Disorders
NCT02792894	Not specified	COMPLETED	Family Networks (FaNs) for Children With Developmental Disorders and Delays
NCT02871674	Not specified	UNKNOWN	Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial
NCT02887157	Not specified	COMPLETED	Analyzing Retinal Microanatomy in ROP
NCT02898298	Not specified	COMPLETED	Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder
NCT02912780	Not specified	UNKNOWN	Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit
NCT03023293	Not specified	COMPLETED	n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum
NCT03023644	Not specified	COMPLETED	Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study
NCT03032991	Not specified	UNKNOWN	Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers
NCT03088189	Not specified	TERMINATED	Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring
NCT03096028	Not specified	COMPLETED	Developmental Origins of Mental Health Disorders
NCT03148782	Not specified	COMPLETED	Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase
NCT03172104	Not specified	COMPLETED	Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age
NCT03222375	Not specified	RECRUITING	SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism
NCT03229928	Not specified	COMPLETED	Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge
NCT03232489	Not specified	UNKNOWN	Study for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice