PIGL

Summary

PIGL (phosphatidylinositol glycan anchor biosynthesis class L, HGNC:8966) is a protein-coding gene on chromosome 17p11.2, encoding N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase (Q9Y2B2). Catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which is the de-N-acetylation of N-acetylglucosaminyl-phosphatidylinositol.

This gene encodes an enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which is the de-N-acetylation of N-acetylglucosaminylphosphatidylinositol (GlcNAc-PI). Study of a similar rat enzyme suggests that this protein localizes to the endoplasmic reticulum.

Source: NCBI Gene 9487 — RefSeq curated summary.

At a glance

• Gene–disease (curated): syndromic intellectual disability (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 18
• Clinical variants (ClinVar): 155 total — 10 pathogenic, 9 likely-pathogenic
• Phenotypes (HPO): 161
• MANE Select transcript: NM_004278

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8966
Approved symbol	PIGL
Name	phosphatidylinositol glycan anchor biosynthesis class L
Location	17p11.2
Locus type	gene with protein product
Status	Approved
Aliases	PIG-L
Ensembl gene	ENSG00000108474
Ensembl biotype	protein_coding
OMIM	605947
Entrez	9487

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 5 protein_coding, 5 protein_coding_CDS_not_defined, 4 retained_intron, 3 nonsense_mediated_decay

ENST00000225609, ENST00000395844, ENST00000414755, ENST00000431149, ENST00000463810, ENST00000470116, ENST00000477745, ENST00000488375, ENST00000489009, ENST00000498772, ENST00000580201, ENST00000581006, ENST00000584797, ENST00000585034, ENST00000596678, ENST00000607144, ENST00000613719

RefSeq mRNA: 2 — MANE Select: NM_004278 NM_001411072, NM_004278

CCDS: CCDS11176, CCDS92263

Canonical transcript exons

ENST00000225609 — 7 exons

Exon	Start	End
ENSE00001946145	16325800	16326411
ENSE00002363825	16233971	16234070
ENSE00003590175	16313547	16313614
ENSE00003756019	16317775	16317908
ENSE00003757651	16316681	16316712
ENSE00003759397	16217210	16217461
ENSE00003759474	16299888	16299978

Expression profiles

Bgee: expression breadth ubiquitous, 236 present calls, max score 95.45.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.6579 / max 328.4794, expressed in 1806 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
159681	21.6579	1806

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of stomach	UBERON:0001199	95.45	gold quality
right uterine tube	UBERON:0001302	95.30	gold quality
sural nerve	UBERON:0015488	94.81	gold quality
skin of leg	UBERON:0001511	93.89	gold quality
skin of abdomen	UBERON:0001416	92.71	gold quality
left lobe of thyroid gland	UBERON:0001120	92.60	gold quality
body of uterus	UBERON:0009853	92.58	gold quality
body of pancreas	UBERON:0001150	92.56	gold quality
tibial nerve	UBERON:0001323	92.50	gold quality
calcaneal tendon	UBERON:0003701	92.50	gold quality
body of stomach	UBERON:0001161	92.26	gold quality
metanephros cortex	UBERON:0010533	92.16	gold quality
left ovary	UBERON:0002119	92.11	gold quality
small intestine Peyer’s patch	UBERON:0003454	91.91	gold quality
right lobe of thyroid gland	UBERON:0001119	91.83	gold quality
endocervix	UBERON:0000458	91.80	gold quality
adenohypophysis	UBERON:0002196	91.72	gold quality
rectum	UBERON:0001052	91.59	gold quality
right lobe of liver	UBERON:0001114	91.55	gold quality
left uterine tube	UBERON:0001303	91.43	gold quality
thyroid gland	UBERON:0002046	91.42	gold quality
right ovary	UBERON:0002118	91.37	gold quality
transverse colon	UBERON:0001157	91.33	gold quality
minor salivary gland	UBERON:0001830	91.14	gold quality
left adrenal gland cortex	UBERON:0035825	90.87	gold quality
lower esophagus mucosa	UBERON:0035834	90.85	gold quality
pituitary gland	UBERON:0000007	90.82	gold quality
ascending aorta	UBERON:0001496	90.74	gold quality
thoracic aorta	UBERON:0001515	90.61	gold quality
subcutaneous adipose tissue	UBERON:0002190	90.33	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.63

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 5)

• Whole-exome sequencing on five previously reported CHIME cases identified PIGL (N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase) as required for glycosylphosphatidylinositol anchor formation. (PMID:22444671)
• Mutations in PIGL in a patient with Mabry syndrome. (PMID:25706356)
• c.336-2A>G variant in PIGL associated with developmental disorder resulted in exon skipping. (PMID:28327575)
• these findings indicate that patients with a clinical diagnosis of CHIME syndrome and a single identifiable mutation in PIGL warrant further investigation for copynumber changes involving (PMID:28371479)
• Elevated nuclear PIGL disrupts the cMyc/BRD4 axis and improves PD-1 blockade therapy by dampening tumor immune evasion. (PMID:37280393)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	pigl	ENSDARG00000067752
mus_musculus	Pigl	ENSMUSG00000014245
rattus_norvegicus	Pigl	ENSRNOG00000003070
drosophila_melanogaster	PIG-L	FBGN0038763
caenorhabditis_elegans	pigl-1	WBGENE00013131

Protein

Protein identifiers

N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase — Q9Y2B2 (reviewed: Q9Y2B2)

Alternative names: Phosphatidylinositol-glycan biosynthesis class L protein

All UniProt accessions (8): Q9Y2B2, A0A096LPK2, A8MTV0, B4DJK6, J3KSD1, J3QLG8, J3QQI7, M0QYT4

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which is the de-N-acetylation of N-acetylglucosaminyl-phosphatidylinositol.

Subcellular location. Endoplasmic reticulum membrane.

Disease relevance. Coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome (CHIME) [MIM:280000] An extremely rare autosomal recessive multisystem disorder clinically characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, intellectual disability, and ear anomalies including conductive hearing loss. Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. Retained in the ER by two retention signals, one located in cytoplasmic domain, and a second signal in transmembrane domain that is functional in the presence of membrane proximal residues of the cytoplasmic tail.

Pathway. Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.

Similarity. Belongs to the PIGL family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9Y2B2-1	1	yes
Q9Y2B2-2	2

RefSeq proteins (2): NP_001398001, NP_004269* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003737	GlcNAc_PI_deacetylase-related	Family
IPR024078	LmbE-like_dom_sf	Homologous_superfamily

Pfam: PF02585

Enzyme classification (BRENDA):

• EC 3.5.1.89 — N-acetylglucosaminylphosphatidylinositol deacetylase (BRENDA: 9 organisms, 33 substrates, 92 inhibitors, 14 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

2 substrates with measured Km, best-characterized 2. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
6-(N-ACETYL-ALPHA-D-GLUCOSAMINYL)-1-PHOSPHATIDYL	0.0014–0.0026	8
N-ACETYL-D-GLUCOSAMINYLPHOSPHATIDYLINOSITOL	—	6

Catalyzed reactions (Rhea), 1 shown:

• a 6-(N-acetyl-alpha-D-glucosaminyl)-1-(1,2-diacyl-sn-glycero-3-phospho)-1D-myo-inositol + H2O = a 6-(alpha-D-glucosaminyl)-1-(1,2-diacyl-sn-glycero-3-phospho)-1D-myo-inositol + acetate (RHEA:11660)

UniProt features (6 total): sequence variant 2, chain 1, transmembrane region 1, topological domain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y2B2-F1	91.66	0.78

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-162710	Synthesis of glycosylphosphatidylinositol (GPI)

MSigDB gene sets: 499 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, GSE45365_NK_CELL_VS_CD11B_DC_UP, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS, TGCGCANK_UNKNOWN, GOBP_GLYCOLIPID_BIOSYNTHETIC_PROCESS, REACTOME_SYNTHESIS_OF_GLYCOSYLPHOSPHATIDYLINOSITOL_GPI, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, YY1_Q6, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, GOBP_PROTEIN_MATURATION

GO Biological Process (2): GPI anchor biosynthetic process (GO:0006506), lipid metabolic process (GO:0006629)

GO Molecular Function (2): N-acetylglucosaminylphosphatidylinositol deacetylase activity (GO:0000225), hydrolase activity (GO:0016787)

GO Cellular Component (3): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Post-translational modification: synthesis of GPI-anchored proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
GPI anchor metabolic process	1
glycolipid biosynthetic process	1
glycerophospholipid biosynthetic process	1
GPI anchored protein biosynthesis	1
primary metabolic process	1
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides	1
deacetylase activity	1
catalytic activity	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cellular anatomical structure	1

Protein interactions and networks

STRING

984 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PIGL	PIGQ	Q9BRB3	965
PIGL	PIGO	Q8TEQ8	876
PIGL	PIGV	Q9NUD9	876
PIGL	PIGM	Q9H3S5	875
PIGL	PIGH	Q14442	859
PIGL	PIGW	Q7Z7B1	847
PIGL	PIGA	P37287	843
PIGL	PGAP2	Q9UHJ9	843
PIGL	PIGT	Q969N2	813
PIGL	PIGB	Q92521	811
PIGL	PIGC	Q92535	811
PIGL	PIGK	Q92643	811
PIGL	PIGP	P57054	808
PIGL	PIGG	Q5H8A4	806
PIGL	PIGY	Q3MUY2	783

IntAct

6 interactions, top by confidence:

A	B	Type	Score
PDZK1	PIGL	psi-mi:“MI:0407”(direct interaction)	0.440
MEIS2	MEIS3P1	psi-mi:“MI:0914”(association)	0.350
RAMP3	GOLIM4	psi-mi:“MI:0914”(association)	0.350
MEIS2	MEIS1	psi-mi:“MI:0914”(association)	0.350
LPAR2	EI24	psi-mi:“MI:0914”(association)	0.350
RAMP3	MGST3	psi-mi:“MI:0914”(association)	0.350

BioGRID (5): PIGL (Affinity Capture-MS), PIGL (Affinity Capture-MS), PIGL (Affinity Capture-MS), PIGL (Affinity Capture-MS), PIGL (Affinity Capture-MS)

ESM2 similar proteins: A2AIG8, A6NFX1, O15315, O35083, O35719, O35790, O43502, O54783, O54804, O55229, O73884, P16442, P20417, P35790, P35821, P47802, Q01134, Q08DW9, Q27HK4, Q2TBS1, Q3T9M1, Q3U129, Q4R3I0, Q4R766, Q4R7M4, Q5E9H2, Q5E9T4, Q5SUV1, Q5SX19, Q5VYX0, Q6GV29, Q86XW9, Q8BVM4, Q8CIW5, Q8N2K0, Q8NBA8, Q8QGV6, Q8R2J9, Q8TCT0, Q924H5

Diamond homologs: A6QQ24, O35790, P23797, Q54C64, Q5SX19, Q9HDW9, Q9Y2B2, D4B4K9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	10
Likely pathogenic	9
Uncertain significance	74
Likely benign	38
Benign	10

Top pathogenic / likely-pathogenic (19)

Variant ID	HGVS	Classification
2064660	NM_004278.4(PIGL):c.271del (p.Glu91fs)	Pathogenic
265641	NM_004278.4(PIGL):c.60G>A (p.Trp20Ter)	Pathogenic
30544	NM_004278.4(PIGL):c.500T>C (p.Leu167Pro)	Pathogenic
30545	NM_004278.4(PIGL):c.274del (p.Leu92fs)	Pathogenic
30546	NM_004278.4(PIGL):c.652C>T (p.Gln218Ter)	Pathogenic
30547	NM_004278.4(PIGL):c.427-1G>A	Pathogenic
3687066	NM_004278.4(PIGL):c.391del (p.Leu131fs)	Pathogenic
3911826	NM_004278.4(PIGL):c.26_27del (p.Val9fs)	Pathogenic
4715680	NM_004278.4(PIGL):c.115_155del (p.Gly38_Ala39insTer)	Pathogenic
632268	NM_004278.4(PIGL):c.336-2A>G	Pathogenic
1299303	NM_004278.4(PIGL):c.154G>A (p.Asp52Asn)	Likely pathogenic
1324907	NM_004278.4(PIGL):c.494+1G>A	Likely pathogenic
1338851	NM_004278.4(PIGL):c.660+1G>T	Likely pathogenic
1341513	NM_004278.4(PIGL):c.438C>A (p.Phe146Leu)	Likely pathogenic
1526252	NM_004278.4(PIGL):c.154_161del (p.Asp52fs)	Likely pathogenic
421029	NM_004278.4(PIGL):c.724del (p.Arg242fs)	Likely pathogenic
421848	NM_004278.4(PIGL):c.262C>T (p.Arg88Cys)	Likely pathogenic
4532797	NM_004278.4(PIGL):c.236-4664_335+2566del	Likely pathogenic
499241	NM_004278.4(PIGL):c.660+1G>A	Likely pathogenic

SpliceAI

2836 predictions. Top by Δscore:

Variant	Effect	Δscore
17:16217457:TGCAG:T	donor_loss	1.0000
17:16217458:GCAGG:G	donor_loss	1.0000
17:16217459:CAGGT:C	donor_loss	1.0000
17:16217460:AGGT:A	donor_loss	1.0000
17:16217461:GGTAG:G	donor_loss	1.0000
17:16217462:G:GA	donor_loss	1.0000
17:16317772:CA:C	acceptor_loss	1.0000
17:16317773:A:AG	acceptor_gain	1.0000
17:16317773:AG:A	acceptor_gain	1.0000
17:16317773:AGG:A	acceptor_gain	1.0000
17:16317773:AGGGT:A	acceptor_gain	1.0000
17:16317774:G:GT	acceptor_gain	1.0000
17:16317774:GG:G	acceptor_gain	1.0000
17:16317774:GGG:G	acceptor_gain	1.0000
17:16317774:GGGT:G	acceptor_gain	1.0000
17:16317774:GGGTG:G	acceptor_gain	1.0000
17:16317908:GGT:G	donor_loss	1.0000
17:16342939:TTC:T	acceptor_gain	1.0000
17:16342941:CCT:C	acceptor_loss	1.0000
17:16342942:C:CC	acceptor_gain	1.0000
17:16342943:T:C	acceptor_loss	1.0000
17:16342952:G:C	acceptor_gain	1.0000
17:16344591:ACTC:A	donor_loss	1.0000
17:16344592:CTC:C	donor_loss	1.0000
17:16344593:T:TC	donor_loss	1.0000
17:16344594:CAC:C	donor_loss	1.0000
17:16344595:A:AC	donor_gain	1.0000
17:16344596:C:CC	donor_gain	1.0000
17:16344708:CTCC:C	acceptor_gain	1.0000
17:16344710:CC:C	acceptor_gain	1.0000

AlphaMissense

1646 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:16313556:T:C	F146L	0.991
17:16313558:C:A	F146L	0.991
17:16313558:C:G	F146L	0.991
17:16217392:T:C	F56L	0.990
17:16217394:T:A	F56L	0.990
17:16217394:T:G	F56L	0.990
17:16299916:T:A	W122R	0.987
17:16299916:T:C	W122R	0.987
17:16233997:C:A	R88S	0.986
17:16299918:G:C	W122C	0.986
17:16299918:G:T	W122C	0.986
17:16325836:T:C	F233L	0.985
17:16325838:C:A	F233L	0.985
17:16325838:C:G	F233L	0.985
17:16234018:A:C	S95R	0.983
17:16234020:C:A	S95R	0.983
17:16234020:C:G	S95R	0.983
17:16325815:C:G	H226D	0.983
17:16217451:C:G	C75W	0.979
17:16325880:C:A	N247K	0.979
17:16325880:C:G	N247K	0.979
17:16313574:A:C	S152R	0.978
17:16313576:T:A	S152R	0.978
17:16313576:T:G	S152R	0.978
17:16217381:A:T	D52V	0.977
17:16234010:T:C	L92P	0.976
17:16217380:G:C	D52H	0.975
17:16217382:T:A	D52E	0.975
17:16217382:T:G	D52E	0.975
17:16217395:T:C	F57L	0.974

dbSNP variants (sampled 300 via entrez): RS1000059252 (17:16260252 T>G), RS1000067889 (17:16315234 G>A), RS1000069216 (17:16226935 T>G), RS1000098518 (17:16314790 G>T), RS1000101318 (17:16298473 G>A,T), RS1000194427 (17:16231888 T>A), RS1000230712 (17:16264887 A>G), RS1000233870 (17:16321303 C>T), RS1000240688 (17:16264689 G>A), RS1000264246 (17:16255711 C>G,T), RS1000274036 (17:16220766 G>A), RS1000311268 (17:16252185 T>C), RS1000344937 (17:16233742 G>A), RS1000362583 (17:16243356 T>C), RS1000398540 (17:16292959 A>T)

Disease associations

OMIM: gene MIM:605947 | disease phenotypes: MIM:280000, MIM:239300

GenCC curated gene-disease

Disease	Classification	Inheritance
CHIME syndrome	Definitive	Autosomal recessive
hyperphosphatasia-intellectual disability syndrome	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
syndromic intellectual disability	Definitive	AR

Mondo (6): CHIME syndrome (MONDO:0010221), hyperphosphatasia with intellectual disability syndrome 1 (MONDO:0009398), intellectual disability (MONDO:0001071), postaxial polydactyly of fingers (MONDO:0017426), syndromic intellectual disability (MONDO:0000508), hyperphosphatasia-intellectual disability syndrome (MONDO:0016596)

Orphanet (5): CHIME syndrome (Orphanet:3474), Hyperphosphatasia-intellectual disability syndrome (Orphanet:247262), Rare genetic syndromic intellectual disability (Orphanet:183763), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658), OBSOLETE: Postaxial polydactyly of fingers (Orphanet:294942)

HPO phenotypes

161 total (30 of 161 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000023	Inguinal hernia
HP:0000034	Hydrocele testis
HP:0000074	Ureteropelvic junction obstruction
HP:0000077	Abnormality of the kidney
HP:0000081	Duplicated collecting system
HP:0000098	Tall stature
HP:0000126	Hydronephrosis
HP:0000154	Wide mouth
HP:0000164	Abnormality of the dentition
HP:0000175	Cleft palate
HP:0000179	Thick lower lip vermilion
HP:0000193	Bifid uvula
HP:0000194	Open mouth
HP:0000218	High palate
HP:0000232	Everted lower lip vermilion
HP:0000248	Brachycephaly
HP:0000280	Coarse facial features
HP:0000286	Epicanthus
HP:0000289	Broad philtrum
HP:0000303	Mandibular prognathia
HP:0000311	Round face
HP:0000316	Hypertelorism
HP:0000322	Short philtrum
HP:0000347	Micrognathia
HP:0000356	Abnormality of the outer ear
HP:0000365	Hearing impairment
HP:0000378	Cupped ear
HP:0000391	Thickened helices
HP:0000396	Overfolded helix

GWAS associations

18 associations (top):

Study	Trait	p-value
GCST001664_12	Amyotrophic lateral sclerosis	3.000000e-07
GCST004608_218	Granulocyte percentage of myeloid white cells	3.000000e-22
GCST004609_76	Monocyte percentage of white cells	3.000000e-11
GCST004610_152	White blood cell count	4.000000e-11
GCST004613_61	Sum neutrophil eosinophil counts	7.000000e-26
GCST004614_57	Granulocyte count	4.000000e-26
GCST004620_102	Sum basophil neutrophil counts	3.000000e-26
GCST004626_140	Myeloid white cell count	7.000000e-24
GCST004629_149	Neutrophil count	6.000000e-26
GCST004632_2	Lymphocyte percentage of white cells	1.000000e-30
GCST004633_41	Neutrophil percentage of white cells	5.000000e-32
GCST007001_11	Cerebrospinal AB1-42 levels in normal cognition	6.000000e-07
GCST007094_6	Diastolic blood pressure	3.000000e-09
GCST90002389_222	Lymphocyte percentage of white cells	1.000000e-72
GCST90002394_515	Monocyte percentage of white cells	4.000000e-20
GCST90002398_264	Neutrophil count	1.000000e-66
GCST90002399_281	Neutrophil percentage of white cells	4.000000e-74
GCST90002407_574	White blood cell count	3.000000e-32

EFO canonical traits (10, from GWAS)

EFO ID	Trait name
EFO:0007997	granulocyte percentage of myeloid white cells
EFO:0007989	monocyte percentage of leukocytes
EFO:0004833	neutrophil count
EFO:0004842	eosinophil count
EFO:0007987	granulocyte count
EFO:0005090	basophil count
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0007990	neutrophil percentage of leukocytes
EFO:0004670	beta-amyloid 1-42 measurement
EFO:0006336	diastolic blood pressure

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
C536729	Zunich neuroectodermal syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
trichostatin A	decreases expression	2
Valproic Acid	affects cotreatment, decreases expression	2
bisphenol A	affects cotreatment, increases methylation	1
beta-lapachone	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	increases expression	1
Sunitinib	increases expression	1
Fulvestrant	increases methylation, affects cotreatment	1
Benzo(a)pyrene	increases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Cyclosporine	increases expression	1
Cadmium Chloride	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT03479476	PHASE2/PHASE3	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796	PHASE1/PHASE2	COMPLETED	Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672	EARLY_PHASE1	RECRUITING	Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948	Not specified	COMPLETED	Healthy Lifestyles for People With Intellectual Disabilities
NCT01087320	Not specified	RECRUITING	Genome Medical Sequencing for Gene Discovery
NCT01652963	Not specified	UNKNOWN	Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395	Not specified	COMPLETED	Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554	Not specified	COMPLETED	Research and Characterization of New Genes Involved in Intellectual Disability
NCT01915381	Not specified	COMPLETED	Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623	Not specified	COMPLETED	Pivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773	Not specified	COMPLETED	Support Staff-client Interactions With Augmentative and Alternative Communication
NCT02136849	Not specified	COMPLETED	Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02225041	Not specified	COMPLETED	Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
NCT02414438	Not specified	COMPLETED	Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
NCT02451761	Not specified	COMPLETED	Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
NCT02461420	Not specified	ACTIVE_NOT_RECRUITING	Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461459	Not specified	ACTIVE_NOT_RECRUITING	Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
NCT02486081	Not specified	COMPLETED	Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
NCT02504502	Not specified	COMPLETED	Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
NCT02513277	Not specified	COMPLETED	Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
NCT02561754	Not specified	COMPLETED	Weight Management for Adolescents With IDD
NCT02591446	Not specified	COMPLETED	Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders
NCT02714868	Not specified	COMPLETED	Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications)
NCT02721394	Not specified	UNKNOWN	FCT With Young Children With ID in the UK: A Feasibility Project V.1
NCT02746614	Not specified	COMPLETED	Psychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability
NCT02836405	Not specified	COMPLETED	TMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders