PGM2L1

Summary

PGM2L1 (phosphoglucomutase 2 like 1, HGNC:20898) is a protein-coding gene on chromosome 11q13.4, encoding Glucose 1,6-bisphosphate synthase (Q6PCE3). Glucose 1,6-bisphosphate synthase using 1,3-bisphosphoglycerate as a phosphate donor and a series of 1-phosphate sugars, including glucose 1-phosphate, mannose 1-phosphate, ribose 1-phosphate and deoxyribose 1-phosphate, as acceptors.

Enables glucose-1,6-bisphosphate synthase activity. Predicted to be involved in glucose metabolic process. Predicted to be located in cytosol.

Source: NCBI Gene 283209 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities (Strong, GenCC)
• GWAS associations: 3
• Clinical variants (ClinVar): 99 total — 8 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 43
• MANE Select transcript: NM_173582

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20898
Approved symbol	PGM2L1
Name	phosphoglucomutase 2 like 1
Location	11q13.4
Locus type	gene with protein product
Status	Approved
Aliases	FLJ32029, BM32A
Ensembl gene	ENSG00000165434
Ensembl biotype	protein_coding
OMIM	611610
Entrez	283209

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 8 protein_coding, 1 TEC

ENST00000298198, ENST00000622957, ENST00000867622, ENST00000867623, ENST00000867624, ENST00000965981, ENST00000965982, ENST00000965983, ENST00000965984

RefSeq mRNA: 1 — MANE Select: NM_173582 NM_173582

CCDS: CCDS8231

Canonical transcript exons

ENST00000298198 — 14 exons

Exon	Start	End
ENSE00001093057	74346732	74346829
ENSE00001093060	74343323	74343416
ENSE00001093061	74368492	74368575
ENSE00001093062	74370902	74370986
ENSE00001093064	74374415	74374582
ENSE00001093067	74342461	74342650
ENSE00001093070	74347148	74347337
ENSE00001093072	74338468	74338601
ENSE00001093073	74345469	74345649
ENSE00001093075	74351383	74351576
ENSE00001093077	74342885	74343014
ENSE00001093079	74398051	74398433
ENSE00001184128	74330316	74336754
ENSE00003501345	74371711	74371817

Expression profiles

Bgee: expression breadth ubiquitous, 254 present calls, max score 98.32.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.9924 / max 412.3482, expressed in 1594 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
121314	12.9924	1594

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
middle temporal gyrus	UBERON:0002771	98.32	gold quality
Brodmann (1909) area 23	UBERON:0013554	97.93	gold quality
Brodmann (1909) area 46	UBERON:0006483	97.70	gold quality
entorhinal cortex	UBERON:0002728	96.89	gold quality
pons	UBERON:0000988	96.46	gold quality
substantia nigra pars compacta	UBERON:0001965	96.27	gold quality
superior frontal gyrus	UBERON:0002661	96.14	gold quality
parietal lobe	UBERON:0001872	96.07	gold quality
postcentral gyrus	UBERON:0002581	95.79	gold quality
cortical plate	UBERON:0005343	95.72	gold quality
endothelial cell	CL:0000115	95.61	gold quality
substantia nigra pars reticulata	UBERON:0001966	95.47	gold quality
superior vestibular nucleus	UBERON:0007227	93.42	gold quality
bronchial epithelial cell	CL:0002328	92.82	gold quality
dorsal root ganglion	UBERON:0000044	92.74	gold quality
bronchus	UBERON:0002185	92.11	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	91.96	gold quality
cerebellar vermis	UBERON:0004720	91.92	gold quality
occipital lobe	UBERON:0002021	91.59	gold quality
lateral nuclear group of thalamus	UBERON:0002736	91.55	gold quality
deltoid	UBERON:0001476	91.52	gold quality
ventral tegmental area	UBERON:0002691	91.21	gold quality
nasal cavity epithelium	UBERON:0005384	91.07	gold quality
prefrontal cortex	UBERON:0000451	90.82	gold quality
biceps brachii	UBERON:0001507	90.81	gold quality
mucosa of paranasal sinus	UBERON:0005030	90.56	gold quality
tibialis anterior	UBERON:0001385	90.15	gold quality
primary visual cortex	UBERON:0002436	90.15	gold quality
medulla oblongata	UBERON:0001896	89.92	gold quality
frontal cortex	UBERON:0001870	89.26	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-93593	yes	653.47
E-HCAD-5	yes	12.88
E-ANND-3	yes	8.06
E-GEOD-137537	yes	6.06
E-GEOD-36552	no	253.32

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

323 targeting PGM2L1, 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-190A-3P	100.00	80.35	5520
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-4262	100.00	73.26	3931
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-4692	100.00	67.32	2066
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-196A-1-3P	99.99	72.15	2772

Literature-anchored findings (GeneRIF, showing 2)

• Study shows that PGM2L1 which shows 60% homology with PGM2 actually corresponds to glucose-1,6-bisphosphate synthase. (PMID:17804405)
• Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder. (PMID:33979636)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	pgm2l1	ENSDARG00000014704
mus_musculus	Pgm2l1	ENSMUSG00000030729
rattus_norvegicus	Pgm2l1	ENSRNOG00000017079
drosophila_melanogaster	Pgm1	FBGN0003076
caenorhabditis_elegans		WBGENE00019890

Paralogs (6): PGM3 (ENSG00000013375), PGM1 (ENSG00000079739), PRTFDC1 (ENSG00000099256), PGM5 (ENSG00000154330), HPRT1 (ENSG00000165704), PGM2 (ENSG00000169299)

Protein

Protein identifiers

Glucose 1,6-bisphosphate synthase — Q6PCE3 (reviewed: Q6PCE3)

Alternative names: PMMLP, Phosphoglucomutase-2-like 1

All UniProt accessions (1): Q6PCE3

UniProt curated annotations — full annotation on UniProt →

Function. Glucose 1,6-bisphosphate synthase using 1,3-bisphosphoglycerate as a phosphate donor and a series of 1-phosphate sugars, including glucose 1-phosphate, mannose 1-phosphate, ribose 1-phosphate and deoxyribose 1-phosphate, as acceptors. In vitro, also exhibits very low phosphopentomutase and phosphoglucomutase activity which are most probably not physiologically relevant.

Subcellular location. Cytoplasm. Cytosol.

Disease relevance. Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities (NEDHFS) [MIM:620191] An autosomal recessive neurodevelopmental disorder characterized by severe developmental and speech delay, dysmorphic facial features, ear anomalies, high arched palate, strabismus, hypotonia, and keratosis pilaris. Early obesity and seizures may be present in affected individuals. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the phosphohexose mutase family.

RefSeq proteins (1): NP_775853* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005844	A-D-PHexomutase_a/b/a-I	Domain
IPR005845	A-D-PHexomutase_a/b/a-II	Domain
IPR005846	A-D-PHexomutase_a/b/a-III	Domain
IPR016055	A-D-PHexomutase_a/b/a-I/II/III	Homologous_superfamily
IPR036900	A-D-PHexomutase_C_sf	Homologous_superfamily

Pfam: PF02878, PF02879, PF02880

Catalyzed reactions (Rhea), 5 shown:

• (2R)-3-phospho-glyceroyl phosphate + alpha-D-glucose 1-phosphate = alpha-D-glucose 1,6-bisphosphate + (2R)-3-phosphoglycerate + H(+) (RHEA:16769)
• (2R)-3-phospho-glyceroyl phosphate + alpha-D-ribose 1-phosphate = alpha-D-ribose 1,5-bisphosphate + (2R)-3-phosphoglycerate + H(+) (RHEA:70899)
• 2-deoxy-alpha-D-ribose 1-phosphate + (2R)-3-phospho-glyceroyl phosphate = 2-deoxy-alpha-D-ribose 1,5-bisphosphate + (2R)-3-phosphoglycerate + H(+) (RHEA:70903)
• (2R)-3-phospho-glyceroyl phosphate + alpha-D-mannose 1-phosphate = alpha-D-mannose 1,6-bisphosphate + (2R)-3-phosphoglycerate + H(+) (RHEA:70907)
• alpha-D-glucose 6-phosphate + (2R)-3-phospho-glyceroyl phosphate = alpha-D-glucose 1,6-bisphosphate + (2R)-3-phosphoglycerate + H(+) (RHEA:70911)

UniProt features (19 total): binding site 10, sequence variant 5, chain 1, active site 1, modified residue 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6PCE3-F1	94.59	0.92

Functional residue map

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

Catalytic / active sites (1): 175 (phosphoserine intermediate)

Ligand- & substrate-binding residues (10): 436; 448; 73; 175; 175 (via phosphate group); 332; 334; 336; 337; 434

Post-translational modifications (1): 175

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-70171	Glycolysis

MSigDB gene sets: 324 (showing top): TGCACTT_MIR519C_MIR519B_MIR519A, GOZGIT_ESR1_TARGETS_DN, chr11q13, IWANAGA_E2F1_TARGETS_INDUCED_BY_SERUM, MARTORIATI_MDM4_TARGETS_NEUROEPITHELIUM_DN, CCTGTGA_MIR513, WTGAAAT_UNKNOWN, ATTACAT_MIR3803P, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, GOBP_GLUCOSE_METABOLIC_PROCESS, KEGG_STARCH_AND_SUCROSE_METABOLISM, DOUGLAS_BMI1_TARGETS_DN, NKX25_01, NIKOLSKY_BREAST_CANCER_11Q12_Q14_AMPLICON, GOBP_MONOSACCHARIDE_METABOLIC_PROCESS

GO Biological Process (2): glucose metabolic process (GO:0006006), carbohydrate metabolic process (GO:0005975)

GO Molecular Function (7): phosphoglucomutase activity (GO:0004614), metal ion binding (GO:0046872), glucose-1,6-bisphosphate synthase activity (GO:0047933), catalytic activity (GO:0003824), transferase activity (GO:0016740), isomerase activity (GO:0016853), intramolecular phosphotransferase activity (GO:0016868)

GO Cellular Component (2): cytosol (GO:0005829), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Glucose metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
catalytic activity	2
cellular anatomical structure	2
hexose metabolic process	1
primary metabolic process	1
intramolecular phosphotransferase activity	1
cation binding	1
kinase activity	1
phosphotransferase activity, alcohol group as acceptor	1
molecular_function	1
intramolecular transferase activity	1
cytoplasm	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

2320 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PGM2L1	UPP2	O95045	900
PGM2L1	UPP1	Q16831	788
PGM2L1	PNP	P00491	729
PGM2L1	PGM1	P36871	656
PGM2L1	PGM5	Q15124	571
PGM2L1	SPMIP2	Q96LM5	570
PGM2L1	PGM3	O95394	518
PGM2L1	APPL2	Q8NEU8	510
PGM2L1	ASMTL	O95671	443
PGM2L1	IER5L	Q5T953	419
PGM2L1	ZFP62	Q8NB50	419
PGM2L1	ALDH18A1	P54886	410
PGM2L1	NEFM	P07197	408
PGM2L1	KIF5B	P33176	408
PGM2L1	PFKP	Q01813	408

IntAct

21 interactions, top by confidence:

A	B	Type	Score
KIF22	KPNA4	psi-mi:“MI:0914”(association)	0.730
OAZ1	AZIN1	psi-mi:“MI:0914”(association)	0.640
EIF2AK4	PGM2L1	psi-mi:“MI:0915”(physical association)	0.400
	TK2	psi-mi:“MI:0915”(physical association)	0.400
PGM2L1	NPSR1	psi-mi:“MI:0915”(physical association)	0.370
SKA3	AP3B1	psi-mi:“MI:0914”(association)	0.350
Ndel1	VEZF1	psi-mi:“MI:0914”(association)	0.350
KIF22	PSEN2	psi-mi:“MI:0914”(association)	0.350
APBB1	SSPOP	psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350
VCP	FAM171A2	psi-mi:“MI:0914”(association)	0.350
AURKB	VWA8	psi-mi:“MI:0914”(association)	0.350
DDX28	UBA6	psi-mi:“MI:0914”(association)	0.350
FPR1	NBAS	psi-mi:“MI:0914”(association)	0.350
SCN2B	RIMOC1	psi-mi:“MI:0914”(association)	0.350
MAPT	PITPNM1	psi-mi:“MI:2364”(proximity)	0.270
CDH5	ESYT2	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (19): PGM2L1 (Co-fractionation), PGM2L1 (Co-fractionation), PGM2L1 (Co-fractionation), PITPNB (Co-fractionation), PGM2L1 (Affinity Capture-MS), PGM2L1 (Affinity Capture-MS), PGM2L1 (Affinity Capture-MS), PGM2L1 (Affinity Capture-MS), PGM2L1 (Affinity Capture-MS), PGM2L1 (Two-hybrid), PGM2L1 (Affinity Capture-MS), PGM2L1 (Co-fractionation), PGM2L1 (Affinity Capture-MS), PGM2L1 (Proximity Label-MS), PGM2 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A2I4HXH5, A5D6U8, B3A0N5, B6EWW8, E0D877, F8S0Z7, O00462, O35409, P05089, P15693, P19492, P21588, P21589, P29240, P31422, P42263, P49614, P49900, P50635, P52307, P70627, P83456, P83852, Q05927, Q14832, Q1ZZH1, Q29444, Q2KJ64, Q4FZV0, Q561R9, Q5R979, Q5RAL3, Q5RFI5, Q5TVM9, Q5XGR8, Q61503, Q641Z7, Q6AYS4, Q6PCE3, Q8CAA7

Diamond homologs: A0R8M4, A1K5A1, A2CCG3, A2REP8, A3PAW2, A4FX97, A4VWE5, A4W2Q0, A5GII9, A5UKY3, A6TW06, A6UP86, A6UU47, A7HV12, A9KSW8, B0B944, B0BAS3, B0C132, B1N017, B1WR00, B1XP15, B4U3I6, B7ITV9, B9DSE8, C0M9C4, C0MDT1, C0ZIM8, C1B058, C1CWA3, C4KZK4, C4Z1Z8, C5A2H8, O74478, O84822, P0DB38, P0DB39, P18159, P45632, Q027B2, Q03262

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	8
Likely pathogenic	1
Uncertain significance	50
Likely benign	5
Benign	19

Top pathogenic / likely-pathogenic (9)

Variant ID	HGVS	Classification
1008756	NM_173582.6(PGM2L1):c.1282G>T (p.Glu428Ter)	Pathogenic
1060644	NM_173582.6(PGM2L1):c.51del (p.Tyr18fs)	Pathogenic
1060646	NM_173582.6(PGM2L1):c.1115del (p.Asn372fs)	Pathogenic
2144201	NM_173582.6(PGM2L1):c.1040_1041del (p.Gly347fs)	Pathogenic
2201077	NM_173582.6(PGM2L1):c.68del (p.Pro23fs)	Pathogenic
2283908	NM_173582.6(PGM2L1):c.1303G>T (p.Glu435Ter)	Pathogenic
2443753	NM_173582.6(PGM2L1):c.1548_1549del (p.Pro517fs)	Pathogenic
2443756	NM_173582.6(PGM2L1):c.172C>T (p.Arg58Ter)	Pathogenic
4845763	NM_173582.6(PGM2L1):c.1189del (p.Ile397fs)	Likely pathogenic

SpliceAI

2155 predictions. Top by Δscore:

Variant	Effect	Δscore
11:74336682:A:AC	donor_gain	1.0000
11:74336683:C:CC	donor_gain	1.0000
11:74336683:CTAGG:C	donor_gain	1.0000
11:74338462:TCTTA:T	donor_loss	1.0000
11:74338463:CTTA:C	donor_loss	1.0000
11:74338464:TTA:T	donor_loss	1.0000
11:74338465:TAC:T	donor_loss	1.0000
11:74338467:C:CT	donor_loss	1.0000
11:74338467:CCT:C	donor_gain	1.0000
11:74338550:C:CT	acceptor_gain	1.0000
11:74338554:T:C	acceptor_gain	1.0000
11:74338554:T:TC	acceptor_gain	1.0000
11:74342452:GGTAC:G	donor_loss	1.0000
11:74342453:GTAC:G	donor_loss	1.0000
11:74342454:TAC:T	donor_loss	1.0000
11:74342455:ACTTA:A	donor_loss	1.0000
11:74342456:CT:C	donor_loss	1.0000
11:74342457:TTA:T	donor_loss	1.0000
11:74342458:TA:T	donor_loss	1.0000
11:74342459:A:AC	donor_gain	1.0000
11:74342460:C:CT	donor_gain	1.0000
11:74342460:CTGA:C	donor_gain	1.0000
11:74342460:CTGAT:C	donor_gain	1.0000
11:74342607:C:CT	acceptor_gain	1.0000
11:74342883:A:AC	donor_gain	1.0000
11:74342884:C:CA	donor_gain	1.0000
11:74342884:C:G	donor_loss	1.0000
11:74342884:CT:C	donor_gain	1.0000
11:74342884:CTT:C	donor_gain	1.0000
11:74342884:CTTT:C	donor_gain	1.0000

AlphaMissense

4107 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:74374442:A:C	N84K	0.998
11:74374442:A:T	N84K	0.998
11:74342507:C:G	R529P	0.996
11:74347193:A:C	F298L	0.996
11:74347193:A:T	F298L	0.996
11:74347195:A:G	F298L	0.996
11:74342984:T:A	K448I	0.995
11:74374443:T:A	N84I	0.995
11:74398068:A:G	W32R	0.995
11:74398068:A:T	W32R	0.995
11:74338524:A:C	S570R	0.994
11:74338524:A:T	S570R	0.994
11:74338526:T:G	S570R	0.994
11:74371756:C:T	G114E	0.993
11:74374444:T:A	N84Y	0.993
11:74338531:C:G	R568P	0.992
11:74343399:A:C	F412L	0.992
11:74343399:A:T	F412L	0.992
11:74343401:A:G	F412L	0.992
11:74346748:C:G	A341P	0.992
11:74346762:T:A	D336V	0.992
11:74346766:C:G	A335P	0.992
11:74347287:C:T	G267E	0.992
11:74368492:C:A	K185N	0.992
11:74368492:C:G	K185N	0.992
11:74368499:C:T	G183E	0.992
11:74368501:A:C	N182K	0.992
11:74368501:A:T	N182K	0.992
11:74368521:G:C	H176D	0.992
11:74371757:C:A	G114W	0.992

dbSNP variants (sampled 300 via entrez): RS1000033753 (11:74386023 A>C), RS1000130657 (11:74375926 G>T), RS1000149265 (11:74385699 C>T), RS1000154771 (11:74333331 G>A), RS1000250153 (11:74334584 A>G), RS1000313559 (11:74378064 G>A), RS1000315456 (11:74393054 T>C), RS1000400991 (11:74395835 T>C), RS1000406586 (11:74360917 G>A,C), RS1000423971 (11:74371236 T>C), RS1000505617 (11:74333703 A>G), RS1000561880 (11:74353348 A>T), RS1000582078 (11:74348844 C>A,T), RS1000597861 (11:74355324 T>C), RS1000642438 (11:74398901 T>G)

Disease associations

OMIM: gene MIM:611610 | disease phenotypes: MIM:620191

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities	Strong	Autosomal recessive

Mondo (1): neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities (MONDO:0859347)

Orphanet (0):

HPO phenotypes

43 total (30 of 43 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000218	High palate
HP:0000219	Thin upper lip vermilion
HP:0000286	Epicanthus
HP:0000307	Pointed chin
HP:0000319	Smooth philtrum
HP:0000343	Long philtrum
HP:0000396	Overfolded helix
HP:0000411	Protruding ear
HP:0000414	Bulbous nose
HP:0000448	Prominent nose
HP:0000494	Downslanted palpebral fissures
HP:0000527	Long eyelashes
HP:0000540	Hypermetropia
HP:0000577	Exotropia
HP:0000670	Carious teeth
HP:0000718	Aggressive behavior
HP:0000750	Delayed speech and language development
HP:0000958	Dry skin
HP:0000964	Eczematoid dermatitis
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001263	Global developmental delay
HP:0001324	Muscle weakness
HP:0001382	Joint hypermobility
HP:0001513	Obesity
HP:0001992	Organic aciduria
HP:0002133	Status epilepticus

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST002760_2	Hippocampal atrophy	5.000000e-06
GCST90002383_39	Hematocrit	1.000000e-11
GCST90002384_294	Hemoglobin	2.000000e-09

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0005039	hippocampal atrophy
EFO:0004348	hematocrit
EFO:0004509	hemoglobin measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	8
trichostatin A	affects cotreatment, increases expression, affects expression	4
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	4
Estradiol	decreases expression, decreases reaction, affects cotreatment, increases expression	4
Acetaminophen	increases expression	3
Benzo(a)pyrene	decreases expression, increases expression, increases methylation	3
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression, increases expression	2
Cyclosporine	decreases expression	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
methylmercuric chloride	increases expression	1
methyleugenol	increases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
bisphenol A	decreases expression	1
methylparaben	increases expression	1
cobaltous chloride	decreases expression	1
manganese chloride	increases abundance, increases expression, affects cotreatment	1
potassium chromate(VI)	decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	decreases expression, affects cotreatment	1
glycidamide	decreases expression	1
pentabromodiphenyl ether	increases expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
torcetrapib	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	affects cotreatment, decreases expression	1
LDN 193189	affects cotreatment, decreases expression	1
Irinotecan	increases expression	1

Clinical trials (associated diseases)

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