PIGW

Summary

PIGW (phosphatidylinositol glycan anchor biosynthesis class W, HGNC:23213) is a protein-coding gene on chromosome 17q12, encoding Glucosaminyl-phosphatidylinositol-acyltransferase PIGW (Q7Z7B1). Acyltransferase that catalyzes the acyl transfer from an acyl-CoA at the 2-OH position of the inositol ring of a 6-(alpha-D-glucosaminyl)-1-(1,2-diacyl-sn-glycero-3-phospho)-1D-myo-inositol (glucosaminyl phosphatidylinositol, GlcN-PI) to generate a 2-acyl-6-alpha-D-glucosaminyl-….

The protein encoded by this gene is an inositol acyltransferase that acylates the inositol ring of phosphatidylinositol. This occurs in the endoplasmic reticulum and is a step in the biosynthesis of glycosylphosphatidylinositol (GPI), which anchors many cell surface proteins to the membrane. Defects in this gene are a cause of the age-dependent epileptic encephalopathy West syndrome as well as a syndrome exhibiting hyperphosphatasia and cognitive disability (HPMRS5).

Source: NCBI Gene 284098 — RefSeq curated summary.

At a glance

• Gene–disease (curated): hyperphosphatasia with intellectual disability syndrome 5 (Strong, GenCC) — +2 more curated relationships
• GWAS associations: 1
• Clinical variants (ClinVar): 2 total — 1 likely-pathogenic
• Phenotypes (HPO): 74
• Druggable target: yes
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_001346754

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23213
Approved symbol	PIGW
Name	phosphatidylinositol glycan anchor biosynthesis class W
Location	17q12
Locus type	gene with protein product
Status	Approved
Aliases	Gwt1, FLJ37433, PIG-W
Ensembl gene	ENSG00000277161
Ensembl biotype	protein_coding
OMIM	610275
Entrez	284098

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000614443, ENST00000619326, ENST00000620233, ENST00000938181

RefSeq mRNA: 3 — MANE Select: NM_001346754 NM_001346754, NM_001346755, NM_178517

CCDS: CCDS11313

Canonical transcript exons

ENST00000614443 — 2 exons

Exon	Start	End
ENSE00003726715	36537094	36539303
ENSE00003736012	36534987	36535592

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 82.94.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.6553 / max 55.3424, expressed in 1752 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
160425	5.8276	1689
160426	1.8278	1077

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
islet of Langerhans	UBERON:0000006	82.94	gold quality
endometrium	UBERON:0001295	80.65	gold quality
gastrocnemius	UBERON:0001388	79.01	gold quality
muscle of leg	UBERON:0001383	78.60	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.55	gold quality
vermiform appendix	UBERON:0001154	78.10	gold quality
rectum	UBERON:0001052	77.65	gold quality
skeletal muscle tissue	UBERON:0001134	77.26	gold quality
esophagus mucosa	UBERON:0002469	77.19	gold quality
lymph node	UBERON:0000029	77.06	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	76.66	gold quality
muscle tissue	UBERON:0002385	76.58	gold quality
stromal cell of endometrium	CL:0002255	76.50	gold quality
mucosa of transverse colon	UBERON:0004991	76.18	gold quality
tonsil	UBERON:0002372	76.09	gold quality
pancreas	UBERON:0001264	76.01	gold quality
smooth muscle tissue	UBERON:0001135	75.88	gold quality
monocyte	CL:0000576	75.78	gold quality
leukocyte	CL:0000738	75.74	gold quality
placenta	UBERON:0001987	74.97	gold quality
duodenum	UBERON:0002114	74.88	gold quality
hindlimb stylopod muscle	UBERON:0004252	74.75	gold quality
esophagus	UBERON:0001043	74.36	gold quality
skin of abdomen	UBERON:0001416	74.24	gold quality
cortical plate	UBERON:0005343	74.17	gold quality
zone of skin	UBERON:0000014	74.09	gold quality
skin of leg	UBERON:0001511	73.90	gold quality
metanephros cortex	UBERON:0010533	73.66	gold quality
body of pancreas	UBERON:0001150	73.52	gold quality
liver	UBERON:0002107	73.41	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-MTAB-6058	no	174.05
E-ANND-3	no	1.73

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

49 targeting PIGW, 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-3613-3P	100.00	76.36	7965
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
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-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-4503	99.85	71.45	1869
HSA-MIR-609	99.82	64.26	505
HSA-MIR-374C-5P	99.80	72.06	2910
HSA-MIR-655-3P	99.80	72.19	2909
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-545-5P	99.66	70.18	2308
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-142-5P	99.48	70.92	2416
HSA-MIR-5590-3P	99.48	70.91	2429
HSA-MIR-6882-5P	99.35	71.13	1206

Functional genomics

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

Literature-anchored findings (GeneRIF, showing 2)

• PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature. (PMID:32198969)
• Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW-related prenatal findings. (PMID:35788948)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	pigw	ENSDARG00000079244
mus_musculus	Pigw	ENSMUSG00000045140
rattus_norvegicus	Znhit3	ENSRNOG00000027857
drosophila_melanogaster	PIG-Wa	FBGN0031422
drosophila_melanogaster	PIG-Wb	FBGN0035265
caenorhabditis_elegans		WBGENE00022447

Protein

Protein identifiers

Glucosaminyl-phosphatidylinositol-acyltransferase PIGW — Q7Z7B1 (reviewed: Q7Z7B1)

Alternative names: Phosphatidylinositol-glycan biosynthesis class W protein

All UniProt accessions (2): A0A087WWS9, Q7Z7B1

UniProt curated annotations — full annotation on UniProt →

Function. Acyltransferase that catalyzes the acyl transfer from an acyl-CoA at the 2-OH position of the inositol ring of a 6-(alpha-D-glucosaminyl)-1-(1,2-diacyl-sn-glycero-3-phospho)-1D-myo-inositol (glucosaminyl phosphatidylinositol, GlcN-PI) to generate a 2-acyl-6-alpha-D-glucosaminyl-1-(1,2-diacyl-sn-glycero-3-phospho)-1D-myo-inositol (glucosaminyl acyl phosphatidylinositol, GlcN-(acyl)PI) and participates in the fourth step of GPI-anchor biosynthesis. Required for the transport of GPI-anchored proteins to the plasma membrane. Acylation during GPI-anchor biosynthesis is not essential for the subsequent mannosylation and is usually removed soon after the attachment of GPIs to proteins.

Subcellular location. Endoplasmic reticulum membrane.

Disease relevance. Glycosylphosphatidylinositol biosynthesis defect 11 (GPIBD11) [MIM:616025] An autosomal recessive neurologic disorder characterized by developmental delay, intellectual disability, tonic seizures associated with hypsarrhythmia, dysmorphic facial features, and elevated serum alkaline phosphatase. The disease is caused by variants affecting the gene represented in this entry.

Pathway. Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.

Similarity. Belongs to the PIGW family.

RefSeq proteins (3): NP_001333683, NP_001333684, NP_848612 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009447	PIGW/GWT1	Family

Pfam: PF06423

Catalyzed reactions (Rhea), 2 shown:

• a 6-(alpha-D-glucosaminyl)-1-(1,2-diacyl-sn-glycero-3-phospho)-1D-myo-inositol + a fatty acyl-CoA = a 2-acyl-6-alpha-D-glucosaminyl-1-(1,2-diacyl-sn-glycero-3-phospho)-1D-myo-inositol + CoA (RHEA:60496)
• a 6-(alpha-D-glucosaminyl)-1-(1,2-diacyl-sn-glycero-3-phospho)-1D-myo-inositol + hexadecanoyl-CoA = a 2-hexadecanoyl-6-alpha-D-glucosaminy-1-(1,2-diacyl-sn-glycero-3-phospho)-1D-myo-inositol + CoA (RHEA:83759)

UniProt features (33 total): topological domain 14, transmembrane region 13, sequence variant 2, chain 1, modified residue 1, glycosylation site 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z7B1-F1	87.17	0.62

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 (1): 416

Glycosylation sites (1): 15

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 268 (showing top): GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS, GOBP_GLYCOLIPID_BIOSYNTHETIC_PROCESS, GCANCTGNY_MYOD_Q6, REACTOME_SYNTHESIS_OF_GLYCOSYLPHOSPHATIDYLINOSITOL_GPI, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, USF_C, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, GOBP_PROTEIN_MATURATION, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, KEGG_GLYCOSYLPHOSPHATIDYLINOSITOL_GPI_ANCHOR_BIOSYNTHESIS

GO Biological Process (3): GPI anchor metabolic process (GO:0006505), GPI anchor biosynthetic process (GO:0006506), protein localization to plasma membrane (GO:0072659)

GO Molecular Function (4): obsolete O-acyltransferase activity (GO:0008374), glucosaminyl-phosphatidylinositol O-acyltransferase activity (GO:0032216), transferase activity (GO:0016740), acyltransferase activity (GO:0016746)

GO Cellular Component (3): endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum (GO:0005783), 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
glycerophospholipid metabolic process	1
glycolipid metabolic process	1
GPI anchor metabolic process	1
glycolipid biosynthetic process	1
glycerophospholipid biosynthetic process	1
GPI anchored protein biosynthesis	1
protein localization to membrane	1
protein localization to cell periphery	1
acyltransferase activity, transferring groups other than amino-acyl groups	1
catalytic activity	1
transferase activity	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1628 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PIGW	PIGV	Q9NUD9	878
PIGW	PIGL	Q9Y2B2	847
PIGW	PIGO	Q8TEQ8	837
PIGW	PIGQ	Q9BRB3	823
PIGW	PIGM	Q9H3S5	822
PIGW	PGAP2	Q9UHJ9	817
PIGW	PIGB	Q92521	810
PIGW	PIGT	Q969N2	808
PIGW	PIGC	Q92535	807
PIGW	PIGK	Q92643	794
PIGW	PIGY	Q3MUY2	788
PIGW	PIGN	O95427	774
PIGW	PGAP3	Q96FM1	772
PIGW	PIGG	Q5H8A4	737
PIGW	PIGZ	Q86VD9	734

IntAct

43 interactions, top by confidence:

A	B	Type	Score
SLC7A1	TMEM223	psi-mi:“MI:0914”(association)	0.530
IPPK	TMEM223	psi-mi:“MI:0914”(association)	0.530
SLC2A12	METTL15	psi-mi:“MI:0914”(association)	0.530
SPPL2B	UQCRQ	psi-mi:“MI:0914”(association)	0.530
GAL3ST1	NDUFA3	psi-mi:“MI:0914”(association)	0.530
YIPF3	TMEM120B	psi-mi:“MI:0914”(association)	0.530
SLC39A4	TMEM120B	psi-mi:“MI:0914”(association)	0.530
LPAR1	TMEM120B	psi-mi:“MI:0914”(association)	0.530
SLC22A9	GPR89A	psi-mi:“MI:0914”(association)	0.530
PBXIP1	GOLIM4	psi-mi:“MI:0914”(association)	0.530
UNC93B1	GPR89A	psi-mi:“MI:0914”(association)	0.530
WLS	PIGW	psi-mi:“MI:0915”(physical association)	0.490
WLS	PIGW	psi-mi:“MI:0915”(physical association)	0.370
YIPF3	TMEM223	psi-mi:“MI:0914”(association)	0.350
SLC39A4	TMEM120B	psi-mi:“MI:0914”(association)	0.350
SLC22A9	GPR89A	psi-mi:“MI:0914”(association)	0.350
TTYH1	TMEM223	psi-mi:“MI:0914”(association)	0.350
TSPAN15	TMEM223	psi-mi:“MI:0914”(association)	0.350
CRELD1	TMEM223	psi-mi:“MI:0914”(association)	0.350
AVPR2	GXYLT2	psi-mi:“MI:0914”(association)	0.350
ATP2A1	TMEM120B	psi-mi:“MI:0914”(association)	0.350
SCN4A	C2CD4B	psi-mi:“MI:0914”(association)	0.350
SLC22A4	RTL8C	psi-mi:“MI:0914”(association)	0.350
AQP3	RTL8C	psi-mi:“MI:0914”(association)	0.350
SPPL2B	GPR89A	psi-mi:“MI:0914”(association)	0.350

BioGRID (44): PIGW (Affinity Capture-MS), PIGW (Affinity Capture-MS), PIGW (Affinity Capture-MS), PIGW (Affinity Capture-MS), PIGW (Affinity Capture-MS), PIGW (Affinity Capture-MS), PIGW (Affinity Capture-MS), PIGW (Affinity Capture-MS), PIGW (Affinity Capture-MS), PIGW (Affinity Capture-RNA), PIGW (Affinity Capture-MS), PIGW (Proximity Label-MS), PIGW (Proximity Label-MS), PIGW (Proximity Label-MS), PIGW (Proximity Label-MS)

ESM2 similar proteins: A0A0P0WY03, A0A161IUT7, A7T1N0, A8WXS4, A8WZ09, G5ECD6, G5ED45, I1MSF2, K7LC65, O04940, O42579, O49639, O59802, O94673, P25628, P53629, P84285, Q08929, Q09758, Q0JJZ6, Q10269, Q19468, Q1PE48, Q22329, Q28GF5, Q3T1J2, Q4V7N7, Q55BH9, Q5GKZ7, Q5I396, Q5ZKL6, Q61086, Q6CK18, Q6ZNC8, Q6ZWT7, Q7Q5R9, Q7TSN4, Q7Z139, Q7Z7B1, Q876L3

Diamond homologs: B3H6K1, P0CP64, P0CP65, P47026, Q1LZA4, Q2HCW8, Q2UQH4, Q4IQ08, Q5BF53, Q6BTT3, Q6CAW6, Q6CK18, Q6FLH2, Q754I2, Q7SCL1, Q7TSN4, Q7Z7B1, Q873N0, Q873N1, Q873N2, Q8C398, Q9UTL4, Q54MC0

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 48 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
R-HSA-425366	5	27.5×	8e-05
SLC-mediated transmembrane transport	5	9.0×	5e-03
Transport of small molecules	7	5.3×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
545221	Single allele	Likely pathogenic

SpliceAI

360 predictions. Top by Δscore:

Variant	Effect	Δscore
17:36535451:G:GT	donor_gain	1.0000
17:36535477:G:GT	donor_gain	1.0000
17:36537088:TCACA:T	acceptor_loss	1.0000
17:36537092:A:AG	acceptor_gain	1.0000
17:36537093:G:GG	acceptor_gain	1.0000
17:36537093:GGAA:G	acceptor_gain	1.0000
17:36535497:G:GT	donor_gain	0.9900
17:36535590:GGA:G	donor_gain	0.9900
17:36535591:GA:G	donor_gain	0.9900
17:36535591:GAG:G	donor_gain	0.9900
17:36535593:G:GG	donor_gain	0.9900
17:36537083:T:TA	acceptor_gain	0.9900
17:36537090:A:AG	acceptor_gain	0.9900
17:36537090:ACAG:A	acceptor_gain	0.9900
17:36537091:C:G	acceptor_gain	0.9900
17:36537092:AG:A	acceptor_gain	0.9900
17:36537093:GG:G	acceptor_gain	0.9900
17:36537093:GGA:G	acceptor_gain	0.9900
17:36535380:GGA:G	donor_gain	0.9700
17:36535381:GAG:G	donor_gain	0.9700
17:36535451:G:T	donor_gain	0.9700
17:36535477:G:T	donor_gain	0.9700
17:36535590:G:GT	donor_gain	0.9700
17:36535600:AG:A	donor_gain	0.9600
17:36535601:GG:G	donor_gain	0.9600
17:36535810:C:G	donor_gain	0.9500
17:36535596:C:G	donor_gain	0.9400
17:36535599:G:GT	donor_gain	0.9400
17:36535517:G:GA	donor_gain	0.9300
17:36535560:GACC:G	donor_gain	0.9300

AlphaMissense

3260 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:36537574:A:T	K158I	0.993
17:36537603:G:C	D168H	0.992
17:36537575:A:C	K158N	0.990
17:36537575:A:T	K158N	0.990
17:36537604:A:C	D168A	0.986
17:36537604:A:T	D168V	0.984
17:36537605:T:A	D168E	0.984
17:36537605:T:G	D168E	0.984
17:36538007:C:A	N302K	0.983
17:36538007:C:G	N302K	0.983
17:36538218:T:C	F373L	0.983
17:36538220:T:A	F373L	0.983
17:36538220:T:G	F373L	0.983
17:36537604:A:G	D168G	0.981
17:36537807:T:A	W236R	0.981
17:36537807:T:C	W236R	0.981
17:36538211:T:A	N370K	0.980
17:36538211:T:G	N370K	0.980
17:36537799:G:A	G233E	0.977
17:36537588:G:T	G163W	0.976
17:36537799:G:T	G233V	0.976
17:36537812:C:A	N237K	0.976
17:36537812:C:G	N237K	0.976
17:36537571:C:A	A157D	0.975
17:36538009:G:C	R303P	0.974
17:36537545:C:A	D148E	0.972
17:36537545:C:G	D148E	0.972
17:36538227:T:A	W376R	0.972
17:36538227:T:C	W376R	0.972
17:36538014:G:A	G305R	0.971

dbSNP variants (sampled 300 via entrez): RS1000104446 (17:36536671 C>T), RS1000473781 (17:36535517 G>T), RS1000665784 (17:36535376 G>A), RS1001667411 (17:36534941 T>G), RS1002666857 (17:36534218 G>A), RS1002783383 (17:36534370 G>A), RS1002858917 (17:36534299 C>CG), RS1003179037 (17:36533473 G>A), RS1003625072 (17:36537241 G>A), RS1003673879 (17:36533057 C>G,T), RS1003789926 (17:36533264 T>C), RS1004219474 (17:36539737 C>T), RS1004238442 (17:36534396 T>C), RS1004290763 (17:36534237 G>A), RS1004395151 (17:36539701 A>G)

Disease associations

OMIM: gene MIM:610275 | disease phenotypes: MIM:616025, MIM:209850

GenCC curated gene-disease

Disease	Classification	Inheritance
hyperphosphatasia with intellectual disability syndrome 5	Strong	Autosomal recessive
hyperphosphatasia-intellectual disability syndrome	Supportive	Autosomal recessive
hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
hyperphosphatasia with intellectual disability syndrome 5	Limited	AR

Mondo (4): hyperphosphatasia with intellectual disability syndrome 5 (MONDO:0014457), autism (MONDO:0005260), hyperphosphatasia-intellectual disability syndrome (MONDO:0016596), hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (MONDO:0012465)

Orphanet (1): Hyperphosphatasia-intellectual disability syndrome (Orphanet:247262)

HPO phenotypes

74 total (30 of 74 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000023	Inguinal hernia
HP:0000126	Hydronephrosis
HP:0000158	Macroglossia
HP:0000193	Bifid uvula
HP:0000218	High palate
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:0000378	Cupped ear
HP:0000391	Thickened helices
HP:0000414	Bulbous nose
HP:0000426	Prominent nasal bridge
HP:0000431	Wide nasal bridge
HP:0000470	Short neck
HP:0000540	Hypermetropia
HP:0000565	Esotropia
HP:0000582	Upslanted palpebral fissure
HP:0000594	Shallow anterior chamber
HP:0000637	Long palpebral fissure
HP:0000657	Oculomotor apraxia
HP:0000729	Autistic behavior
HP:0000767	Pectus excavatum
HP:0001009	Telangiectasia

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST005951_15	Body mass index	3.000000e-13

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D001321	Autistic Disorder	F03.625.164.113.500

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4523365 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases expression	3
trichostatin A	affects expression, decreases expression	2
Benzo(a)pyrene	affects methylation, increases expression	2
Nickel	increases expression	2
GSK-J4	decreases expression	1
afuresertib	decreases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
cobaltous chloride	decreases expression	1
butyraldehyde	decreases expression	1
beta-methylcholine	affects expression	1
ICG 001	decreases expression	1
Irinotecan	decreases expression	1
Decitabine	affects expression	1
Leflunomide	decreases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Atrazine	decreases expression	1
Calcitriol	decreases expression, affects cotreatment	1
Cisplatin	affects expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Estradiol	increases expression	1
Niclosamide	decreases expression	1
Oxygen	decreases expression	1
Silicon Dioxide	increases expression	1
Testosterone	affects cotreatment, decreases expression	1
Thiram	decreases expression	1
Tretinoin	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 admet

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4410463	ADMET	Inhibition of human PIGW expressed in Saccharomyces cerevisiae at 16 uM by spectrophotometric analysis relative to control	Synthesis of analogs of the Gwt1 inhibitor manogepix (APX001A) and in vitro evaluation against Cryptococcus spp. — Bioorg Med Chem Lett

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00211796	PHASE4	COMPLETED	Divalproex Sodium ER in Adult Autism
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT00409747	PHASE4	COMPLETED	Minocycline to Treat Childhood Regressive Autism
NCT00576732	PHASE4	COMPLETED	A Study of the Effectiveness and Safety of Two Doses of Risperidone in the Treatment of Children and Adolescents With Autistic Disorder
NCT00844753	PHASE4	COMPLETED	Atomoxetine, Placebo and Parent Management Training in Autism
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01098383	PHASE4	UNKNOWN	Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Spectrum Disorders
NCT01333865	PHASE4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	PHASE4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	PHASE4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02069977	PHASE4	UNKNOWN	Study to Evaluate the Efficacy and Safety of Aripiprazole
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02199925	PHASE4	UNKNOWN	An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02255565	PHASE4	COMPLETED	Dose Response Effects of Quillivant XR in Children With ADHD and Autism: A Pilot Study
NCT02940574	PHASE4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	PHASE4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	PHASE4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	PHASE4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	PHASE4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	PHASE4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	PHASE4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	PHASE4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339	PHASE4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052	PHASE4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665	PHASE4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697	PHASE4	COMPLETED	Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804	PHASE4	COMPLETED	Pilot RCT Using Homeopathic Medicines in ASD
NCT07439042	PHASE4	NOT_YET_RECRUITING	Buspirone for Anxiety in Autistic Youth
NCT00036231	PHASE3	TERMINATED	Synthetic Human Secretin in Children With Autism and Gastrointestinal Dysfunction
NCT00036244	PHASE3	COMPLETED	Synthetic Human Secretin in Children With Autism
NCT00065884	PHASE3	UNKNOWN	Valproate Response in Aggressive Autistic Adolescents
NCT00065962	PHASE3	COMPLETED	Secretin for the Treatment of Autism
NCT00252603	PHASE3	COMPLETED	Galantamine Versus Placebo in Childhood Autism
NCT00346736	PHASE3	COMPLETED	Use of Acupuncture In Children With Autistic Spectrum Disorder
NCT00352248	PHASE3	COMPLETED	Randomized Controlled Trial of Acupuncture Versus Sham Acupuncture in Autistic Spectrum Disorder
NCT00352352	PHASE3	COMPLETED	Use of Acupuncture In Children With Autistic Spectrum Disorder
NCT00355329	PHASE3	COMPLETED	Randomized Control Trial of Using Tongue Acupuncture in Autistic Spectrum Disorder Using PET Scan for Clinical Correlation
NCT00498173	PHASE3	COMPLETED	Effectiveness of Atomoxetine in Treating ADHD Symptoms in Children and Adolescents With Autism
NCT00541346	PHASE3	COMPLETED	A Pilot Study of Daytrana TM in Children With Autism Co-Morbid for Attention Deficit Hyperactivity Disorder (ADHD) Symptoms