GALM

Summary

GALM (galactose mutarotase, HGNC:24063) is a protein-coding gene on chromosome 2p22.1, encoding Galactose mutarotase (Q96C23). Mutarotase that catalyzes the interconversion of beta-D-galactose and alpha-D-galactose during galactose metabolism.

This gene encodes an enzyme that catalyzes the epimerization of hexose sugars such as glucose and galactose. The encoded protein is expressed in the cytoplasm and has a preference for galactose. The encoded protein may be required for normal galactose metabolism by maintaining the equilibrium of alpha and beta anomers of galactose.

Source: NCBI Gene 130589 — RefSeq curated summary.

At a glance

• Gene–disease (curated): galactosemia 4 (Strong, ClinGen)
• GWAS associations: 2
• Clinical variants (ClinVar): 127 total — 7 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 14
• MANE Select transcript: NM_138801

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24063
Approved symbol	GALM
Name	galactose mutarotase
Location	2p22.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000143891
Ensembl biotype	protein_coding
OMIM	137030
Entrez	130589

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 12 protein_coding, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000272252, ENST00000410063, ENST00000427858, ENST00000434934, ENST00000444351, ENST00000862588, ENST00000862589, ENST00000862590, ENST00000862591, ENST00000862592, ENST00000862593, ENST00000953224, ENST00000953225, ENST00000953226

RefSeq mRNA: 1 — MANE Select: NM_138801 NM_138801

CCDS: CCDS1797

Canonical transcript exons

ENST00000272252 — 7 exons

Exon	Start	End
ENSE00000962504	38675912	38676066
ENSE00000962505	38681280	38681486
ENSE00001072353	38689813	38689894
ENSE00001144695	38666114	38666351
ENSE00001272212	38731735	38731909
ENSE00001361889	38733488	38734765
ENSE00003682562	38729556	38729697

Expression profiles

Bgee: expression breadth ubiquitous, 257 present calls, max score 99.52.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.5143 / max 175.8416, expressed in 1532 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
19835	12.2508	1517
19834	0.2635	140

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
kidney epithelium	UBERON:0004819	99.52	gold quality
right adrenal gland	UBERON:0001233	97.01	gold quality
right adrenal gland cortex	UBERON:0035827	96.97	gold quality
pancreatic ductal cell	CL:0002079	96.67	gold quality
left adrenal gland	UBERON:0001234	96.53	gold quality
adrenal cortex	UBERON:0001235	96.42	gold quality
left adrenal gland cortex	UBERON:0035825	96.23	gold quality
duodenum	UBERON:0002114	95.83	gold quality
right uterine tube	UBERON:0001302	95.50	gold quality
adrenal gland	UBERON:0002369	95.45	gold quality
renal medulla	UBERON:0000362	95.31	gold quality
jejunal mucosa	UBERON:0000399	94.68	gold quality
epithelial cell of pancreas	CL:0000083	93.62	silver quality
adult mammalian kidney	UBERON:0000082	93.41	gold quality
rectum	UBERON:0001052	93.39	gold quality
vena cava	UBERON:0004087	93.36	gold quality
mucosa of transverse colon	UBERON:0004991	93.31	gold quality
ileal mucosa	UBERON:0000331	93.13	gold quality
kidney	UBERON:0002113	92.83	gold quality
oviduct epithelium	UBERON:0004804	92.29	gold quality
liver	UBERON:0002107	92.17	gold quality
upper arm skin	UBERON:0004263	91.59	silver quality
right lobe of liver	UBERON:0001114	91.49	gold quality
cardiac muscle of right atrium	UBERON:0003379	91.31	silver quality
adrenal tissue	UBERON:0018303	91.16	gold quality
jejunum	UBERON:0002115	90.37	gold quality
saphenous vein	UBERON:0007318	90.33	gold quality
left ventricle myocardium	UBERON:0006566	90.30	silver quality
tendon of biceps brachii	UBERON:0008188	90.06	gold quality
pylorus	UBERON:0001166	90.01	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.39
E-MTAB-6379	no	1724.79
E-MTAB-6142	no	158.66

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

45 targeting GALM, 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-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-219A-5P	99.91	73.36	735
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-4782-3P	99.88	73.31	735
HSA-MIR-6766-3P	99.88	73.38	732
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-4420	99.82	70.08	1624
HSA-MIR-181B-2-3P	99.81	70.06	1646
HSA-MIR-181B-3P	99.81	70.06	1646
HSA-MIR-1825	99.72	68.11	1089
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-29B-2-5P	99.67	68.98	1726
HSA-MIR-3975	99.62	65.97	697
HSA-MIR-766-5P	99.47	67.91	2225
HSA-MIR-103A-1-5P	99.39	67.78	1545
HSA-MIR-103A-2-5P	99.39	67.72	1577
HSA-MIR-4999-5P	99.35	69.15	926
HSA-MIR-1912-3P	99.32	67.40	936
HSA-MIR-485-5P	99.10	64.78	1889
HSA-MIR-6884-5P	99.10	64.50	1987
HSA-MIR-8066	99.05	68.66	1532
HSA-MIR-670-3P	99.03	68.88	2404
HSA-MIR-412-3P	98.86	66.89	712
HSA-MIR-6754-3P	98.84	66.60	889
HSA-MIR-367-5P	98.84	67.18	902
HSA-MIR-3149	98.77	67.13	1639
HSA-MIR-4297	98.77	66.95	2013

Literature-anchored findings (GeneRIF, showing 4)

• Gene encodes a functional aldose 1-epimerase (mutarotase). The enzyme exhibits (approx. four-fold) preference for galactose over glucose. Mutation E307A results in no detactable activity. (PMID:12753898)
• Identification and characterisation of human aldose 1-epimerase. (PMID:12753898)
• The enzyme is a monomer and has a similar structure to the Lactococcus lactis mutarotase. (PMID:15026423)
• This study demonistrated that polymorphism in galactose mutarotase (GALM) is associated with serotonin transporter binding potential in the human thalamus. (PMID:21339755)

Cross-species orthologs

10 orthologs

Organism	Symbol	Gene ID
danio_rerio	galm	ENSDARG00000057630
mus_musculus	Galm	ENSMUSG00000035473
rattus_norvegicus	Galm	ENSRNOG00000007023
drosophila_melanogaster	CG10996	FBGN0030525
drosophila_melanogaster	CG4988	FBGN0032372
drosophila_melanogaster	CG10467	FBGN0035679
drosophila_melanogaster	CG32444	FBGN0043783
drosophila_melanogaster	CG32445	FBGN0052445
caenorhabditis_elegans		WBGENE00015270
caenorhabditis_elegans		WBGENE00044734

Protein

Protein identifiers

Galactose mutarotase — Q96C23 (reviewed: Q96C23)

Alternative names: Aldose 1-epimerase

All UniProt accessions (5): Q96C23, A0A384MDW6, B8ZZ75, H7C1B5, H7C320

UniProt curated annotations — full annotation on UniProt →

Function. Mutarotase that catalyzes the interconversion of beta-D-galactose and alpha-D-galactose during galactose metabolism. Beta-D-galactose is metabolized in the liver into glucose 1-phosphate, the primary metabolic fuel, by the action of four enzymes that constitute the Leloir pathway: GALM, GALK1 (galactokinase), GALT (galactose-1-phosphate uridylyltransferase) and GALE (UDP-galactose-4’-epimerase). Involved in the maintenance of the equilibrium between the beta- and alpha-anomers of galactose, therefore ensuring a sufficient supply of the alpha-anomer for GALK1. Also active on D-glucose although shows a preference for galactose over glucose.

Subunit / interactions. Monomer.

Subcellular location. Cytoplasm.

Disease relevance. Galactosemia 4 (GALAC4) [MIM:618881] A form of galactosemia, an inborn error of galactose metabolism typically manifesting in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis and cataract. GALAC4 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Pathway. Carbohydrate metabolism; hexose metabolism. Carbohydrate metabolism; galactose metabolism.

Similarity. Belongs to the aldose epimerase family.

RefSeq proteins (1): NP_620156* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008183	Aldose_1/G6P_1-epimerase	Family
IPR011013	Gal_mutarotase_sf_dom	Homologous_superfamily
IPR014718	GH-type_carb-bd	Homologous_superfamily
IPR015443	GALM/Mro	Family
IPR018052	Ald1_epimerase_CS	Conserved_site
IPR047215	Galactose_mutarotase-like	Family

Pfam: PF01263

Enzyme classification (BRENDA):

• EC 5.1.3.3 — Aldose 1-epimerase (BRENDA: 33 organisms, 41 substrates, 66 inhibitors, 73 Km, 33 kcat entries)

Substrate kinetics (BRENDA)

12 substrates with measured Km, best-characterized 12. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
ALPHA-D-GLUCOSE	5–180	29
ALPHA-D-GALACTOSE	4–52	14
ALPHA-D-XYLOSE	8–86	7
ALPHA-L-ARABINOSE	8.3–170	6
D-GLUCOSE	15	4
ALPHA-D-FUCOSE	2–25	3
D-FUCOSE	13	3
ALPHA-D-QUINOVOSE	37	1
BETA-D-ARABINOSE	18	1
D-GALACTOSE	6.5	1
D-XYLOSE	23	1
LACTOSE	475	1

Catalyzed reactions (Rhea), 2 shown:

• alpha-D-glucose = beta-D-glucose (RHEA:10264)
• alpha-D-galactose = beta-D-galactose (RHEA:28675)

UniProt features (54 total): strand 24, helix 7, binding site 6, sequence variant 5, modified residue 3, mutagenesis site 3, active site 2, turn 2, initiator methionine 1, chain 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
1SNZ	X-RAY DIFFRACTION	2.2
1SO0	X-RAY DIFFRACTION	2.3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96C23-F1	97.83	0.99

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 (2): 176 (proton donor); 307 (proton acceptor)

Ligand- & substrate-binding residues (6): 81–82; 107; 176–178; 243; 279; 307

Post-translational modifications (3): 2, 14, 124

Mutagenesis-validated functional residues (3):

Position	Phenotype
107	decreased activity by 5-fold.
176	decreased activity by 300-fold.
307	loss of activity.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-70370	Galactose catabolism
R-HSA-9931929	Defective GALM causes GALAC4

MSigDB gene sets: 188 (showing top): GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS, GOBP_MONOSACCHARIDE_CATABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, KEGG_GLYCOLYSIS_GLUCONEOGENESIS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, GOBP_GALACTOSE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_CATABOLIC_PROCESS, GOBP_GLUCOSE_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_CATABOLIC_PROCESS, SANSOM_APC_TARGETS_DN

GO Biological Process (5): carbohydrate metabolic process (GO:0005975), glucose metabolic process (GO:0006006), galactose metabolic process (GO:0006012), beta-D-galactose catabolic process via UDP-galactose, Leloir pathway (GO:0033499), hexose metabolic process (GO:0019318)

GO Molecular Function (4): aldose 1-epimerase activity (GO:0004034), carbohydrate binding (GO:0030246), catalytic activity (GO:0003824), isomerase activity (GO:0016853)

GO Cellular Component (3): cytosol (GO:0005829), extracellular exosome (GO:0070062), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Metabolism of carbohydrates and carbohydrate derivatives	1
Diseases associated with glycosylation precursor biosynthesis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
hexose metabolic process	2
cellular anatomical structure	2
primary metabolic process	1
galactose catabolic process	1
organophosphate metabolic process	1
carbohydrate derivative metabolic process	1
monosaccharide metabolic process	1
racemase and epimerase activity, acting on carbohydrates and derivatives	1
binding	1
molecular_function	1
catalytic activity	1
cytoplasm	1
extracellular vesicle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1598 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GALM	GALK1	P51570	862
GALM	GALE	Q14376	849
GALM	GALT	P07902	761
GALM	GPI	P06744	617
GALM	TMEM147	Q9BVK8	578
GALM	TMEM63A	O94886	576
GALM	PCDHA1	Q9Y5I3	576
GALM	XYLB	O75191	573
GALM	TPI1	P00938	560
GALM	RPE	Q96AT9	536
GALM	FUOM	A2VDF0	519
GALM	PGM1	P36871	518
GALM	PCDHAC1	Q9H158	507
GALM	PDHB	P11177	507
GALM	RBKS	Q9H477	507

IntAct

13 interactions, top by confidence:

A	B	Type	Score
OR5F1	UBA6	psi-mi:“MI:0914”(association)	0.530
DVL2	VANGL1	psi-mi:“MI:0914”(association)	0.530
IL33	GALM	psi-mi:“MI:0915”(physical association)	0.400
OCC1	GALM	psi-mi:“MI:0915”(physical association)	0.400
COG8	GALM	psi-mi:“MI:0915”(physical association)	0.400
UEVLD	GALM	psi-mi:“MI:0915”(physical association)	0.370
VAMP4	NBAS	psi-mi:“MI:0914”(association)	0.350
DTWD1	ACTA2	psi-mi:“MI:0914”(association)	0.350
DNAI3	GALM	psi-mi:“MI:0914”(association)	0.350
CFAP263	SPTBN2	psi-mi:“MI:0914”(association)	0.350
AKAP13	HARS2	psi-mi:“MI:0914”(association)	0.350
LARP7	SBNO1	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (20): GALM (Affinity Capture-MS), ATOX1 (Co-fractionation), GALK2 (Co-fractionation), GALM (Co-fractionation), GALM (Affinity Capture-MS), GALM (Affinity Capture-MS), GALM (Affinity Capture-MS), GALM (Affinity Capture-RNA), GALM (Affinity Capture-MS), GALM (Affinity Capture-MS), GALM (Affinity Capture-MS), GALM (Affinity Capture-MS), GALM (Affinity Capture-MS), GALM (Affinity Capture-MS), GALM (Affinity Capture-MS)

ESM2 similar proteins: E9Q3E1, J3QMK6, O24496, O54975, P04397, P05149, P0A9C3, P0A9C4, P14550, P19623, P21872, P22102, P30839, P31765, P43353, P47740, P50578, Q03161, Q06AA3, Q15493, Q1JPA0, Q2PFX5, Q3B7M2, Q58EB4, Q59A32, Q5EA79, Q5R5D5, Q5R837, Q5R8U1, Q5RCX5, Q5XI42, Q5ZI23, Q60HH8, Q64374, Q64674, Q64737, Q66HG4, Q6DF62, Q6NYF0, Q6P2I3

Diamond homologs: B0M3E8, E8MF10, O64749, O65780, O65781, O84903, P04397, P09147, P09609, P13226, P18645, P21977, P22715, P24325, P26503, P33119, P35673, P38893, P40801, P45602, P47364, P53757, P55180, P56600, P56985, P56986, P56997, P75517, P96995, Q00053, Q05026, Q14376, Q2FJ87, Q2G0M5, Q2YSA8, Q3T105, Q42605, Q43070, Q45291, Q54L85

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
GALM	“down-regulates quantity”	beta-D-galactose	“chemical modification”
GALM	“up-regulates quantity”	alpha-D-galactose	“chemical modification”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	7
Likely pathogenic	1
Uncertain significance	62
Likely benign	22
Benign	27

Top pathogenic / likely-pathogenic (8)

Variant ID	HGVS	Classification
2414354	NM_138801.3(GALM):c.195C>A (p.Tyr65Ter)	Pathogenic
2427270	NC_000002.11:g.(?38893304)(38893513_?)del	Pathogenic
2427271	NC_000002.11:g.(?38893304)(38917056_?)del	Pathogenic
2717597	NM_138801.3(GALM):c.577G>T (p.Glu193Ter)	Pathogenic
873020	NM_138801.3(GALM):c.294del (p.Ile99fs)	Pathogenic
873021	NM_138801.3(GALM):c.244C>T (p.Arg82Ter)	Pathogenic
873024	NM_138801.3(GALM):c.932G>A (p.Trp311Ter)	Pathogenic
4845671	NM_138801.3(GALM):c.457del (p.Asp153fs)	Likely pathogenic

SpliceAI

1200 predictions. Top by Δscore:

Variant	Effect	Δscore
2:38676063:TAAA:T	donor_gain	1.0000
2:38676064:AAA:A	donor_gain	1.0000
2:38676065:AA:A	donor_gain	1.0000
2:38676066:AG:A	donor_loss	1.0000
2:38676067:G:GG	donor_gain	1.0000
2:38676067:GTAA:G	donor_loss	1.0000
2:38676068:TAA:T	donor_loss	1.0000
2:38681275:TCCAG:T	acceptor_loss	1.0000
2:38681276:CCAG:C	acceptor_loss	1.0000
2:38681278:A:AG	acceptor_gain	1.0000
2:38681278:A:AT	acceptor_loss	1.0000
2:38681279:G:GG	acceptor_gain	1.0000
2:38681279:G:GT	acceptor_loss	1.0000
2:38681279:GGT:G	acceptor_gain	1.0000
2:38681482:GCCAG:G	donor_gain	1.0000
2:38681483:CCAG:C	donor_gain	1.0000
2:38681484:CAG:C	donor_gain	1.0000
2:38681485:AG:A	donor_gain	1.0000
2:38681485:AGGT:A	donor_loss	1.0000
2:38681486:GG:G	donor_gain	1.0000
2:38681486:GGTA:G	donor_loss	1.0000
2:38681487:G:GG	donor_gain	1.0000
2:38729627:G:GT	donor_gain	1.0000
2:38729669:GGATC:G	donor_gain	1.0000
2:38731730:ACCAG:A	acceptor_gain	1.0000
2:38731732:CAGG:C	acceptor_loss	1.0000
2:38731733:A:AG	acceptor_gain	1.0000
2:38731733:A:AT	acceptor_loss	1.0000
2:38731733:AG:A	acceptor_gain	1.0000
2:38731734:G:GG	acceptor_gain	1.0000

AlphaMissense

2215 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:38731873:C:G	C305W	0.996
2:38675966:G:C	R82P	0.994
2:38666275:C:G	C38W	0.992
2:38681286:T:A	W118R	0.992
2:38681286:T:C	W118R	0.992
2:38731879:G:C	E307D	0.990
2:38731879:G:T	E307D	0.990
2:38731878:A:T	E307V	0.989
2:38681331:A:C	S133R	0.988
2:38681333:T:A	S133R	0.988
2:38681333:T:G	S133R	0.988
2:38681450:C:A	N172K	0.988
2:38681450:C:G	N172K	0.988
2:38681460:C:G	H176D	0.988
2:38681462:T:A	H176Q	0.988
2:38681462:T:G	H176Q	0.988
2:38731872:G:A	C305Y	0.988
2:38675955:G:C	R78S	0.986
2:38675955:G:T	R78S	0.986
2:38729650:C:A	D243E	0.985
2:38729650:C:G	D243E	0.985
2:38675939:G:A	G73E	0.984
2:38675951:G:A	G77E	0.984
2:38676040:C:G	H107D	0.984
2:38675954:G:T	R78M	0.983
2:38675964:C:A	N81K	0.983
2:38675964:C:G	N81K	0.983
2:38676042:T:A	H107Q	0.983
2:38676042:T:G	H107Q	0.983
2:38681446:T:A	V171D	0.983

dbSNP variants (sampled 300 via entrez): RS1000035549 (2:38723665 G>A,T), RS1000047698 (2:38670181 G>A,C), RS1000056321 (2:38705893 A>C), RS1000097824 (2:38724229 T>C), RS1000103332 (2:38665756 C>T), RS1000133924 (2:38679942 G>A), RS1000135832 (2:38665938 T>C), RS1000213584 (2:38699552 T>C), RS1000299059 (2:38711136 A>T), RS1000365618 (2:38733767 T>C), RS1000376009 (2:38722807 G>T), RS1000377727 (2:38670005 G>A), RS1000422162 (2:38727838 A>T), RS1000454165 (2:38688978 A>G), RS1000484687 (2:38728062 T>A)

Disease associations

OMIM: gene MIM:137030 | disease phenotypes: MIM:618881, MIM:181500

GenCC curated gene-disease

Disease	Classification	Inheritance
galactosemia 4	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
galactosemia 4	Strong	AR

Mondo (2): galactosemia 4 (MONDO:0030105), schizophrenia (MONDO:0005090)

Orphanet (2): Galactose mutarotase deficiency (Orphanet:570422), NON RARE IN EUROPE: Schizophrenia (Orphanet:3140)

HPO phenotypes

14 total (15 of 14 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000518	Cataract
HP:0000707	Abnormality of the nervous system
HP:0001263	Global developmental delay
HP:0001396	Cholestasis
HP:0001410	Decreased liver function
HP:0001508	Failure to thrive
HP:0002240	Hepatomegaly
HP:0003623	Neonatal onset
HP:0004915	Impairment of galactose metabolism
HP:0006579	Prolonged neonatal jaundice
HP:0012024	Hypergalactosemia
HP:0012379	Abnormal circulating enzyme concentration or activity
HP:0100806	Sepsis
HP:0100753	Schizophrenia

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST000983_1	5-HTT brain serotonin transporter levels	5.000000e-06
GCST006427_21	Depression in smokers	4.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases methylation, affects methylation, decreases expression	4
Tretinoin	decreases reaction, increases expression, affects cotreatment	4
Cyclosporine	decreases expression	3
bisphenol A	affects expression, increases expression	2
sodium arsenite	increases expression	2
Cisplatin	affects cotreatment, increases expression	2
Ethinyl Estradiol	affects expression, decreases expression	2
Nickel	increases expression	2
Tetrachlorodibenzodioxin	increases expression	2
Aflatoxin B1	affects expression, decreases expression	2
Cadmium Chloride	increases abundance, increases expression	2
bisphenol F	increases expression	1
methylmercuric chloride	decreases expression	1
deoxynivalenol	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
nivalenol	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	decreases expression, affects response to substance, increases expression, affects cotreatment	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
yessotoxin	increases expression	1
Am 580	increases expression	1
CGP 52608	affects binding, increases reaction	1
bisphenol B	increases expression	1
abrine	decreases expression	1
bisphenol S	increases expression	1
jinfukang	increases expression, affects cotreatment	1
(+)-JQ1 compound	decreases expression	1
PP242	decreases expression	1
Sunitinib	decreases expression	1
Arsenic Trioxide	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00000374	PHASE4	COMPLETED	Treatment for First-Episode Schizophrenia
NCT00001656	PHASE4	COMPLETED	Comparison of Clozapine vs Olanzapine in Childhood-Onset Psychotic Disorders
NCT00007774	PHASE4	COMPLETED	To Determine if Olanzapine is More Cost Effective Than Haloperidol for the Treatment of Schizophrenia
NCT00014001	PHASE4	COMPLETED	CATIE- Schizophrenia Trial
NCT00018668	PHASE4	COMPLETED	Antipsychotic Response in Schizophrenia
NCT00034801	PHASE4	COMPLETED	Olanzapine Versus Active Comparator in the Treatment of Depression in Patients With Schizophrenia
NCT00034905	PHASE4	COMPLETED	A Comparison of Seroquel vs. Risperidone in Schizophrenia
NCT00036088	PHASE4	COMPLETED	Olanzapine Versus An Active Comparator in the Treatment of Schizophrenia
NCT00044187	PHASE4	COMPLETED	The Assessment of a Weight-Gain Agent for the Treatment of Olanzapine-Associated Anti-Obesity Agent in Patients With Schizophrenia, Schizophreniform Disorder, Schizoaffective Disorder, and Bipolar I Disorder
NCT00044655	PHASE4	COMPLETED	Switching Medication to Treat Schizophrenia
NCT00048828	PHASE4	COMPLETED	Treating Drug-Resistant Childhood Schizophrenia
NCT00053703	PHASE4	COMPLETED	Treatment of Early Onset Schizophrenia Spectrum Disorders (TEOSS)
NCT00056498	PHASE4	COMPLETED	Risperidone Treatment in Schizophrenia Patients Who Are Currently Taking Clozapine
NCT00061802	PHASE4	COMPLETED	Efficacy and Safety of Two Atypical Antipsychotics vs. Placebo in Patients With an Acute Exacerbation of Either Schizophrenia or Schizoaffective Disorder
NCT00080327	PHASE4	COMPLETED	Study of Three Doses of Aripiprazole in Patients With Acute Schizophrenia
NCT00088049	PHASE4	COMPLETED	Study of Olanzapine vs. Aripiprazole in the Treatment of Schizophrenia
NCT00090012	PHASE4	COMPLETED	Comparison of Continuing Olanzapine to Switching to Quetiapine in Overweight or Obese Patients With Schizophrenia and Schizoaffective Disorder
NCT00100776	PHASE4	COMPLETED	Efficacy of High Dose Olanzapine for the Treatment of Schizophrenia and Schizoaffective Disorder
NCT00103571	PHASE4	COMPLETED	Olanzapine Versus Aripiprazole in the Treatment of Acutely Ill Patients With Schizophrenia
NCT00108368	PHASE4	COMPLETED	The Effects of Risperidone and Olanzapine on Thinking
NCT00114595	PHASE4	COMPLETED	Ethyl-Eicosapentaenoic Acid and Tardive Dyskinesia
NCT00130923	PHASE4	COMPLETED	Risperidone Long-acting Versus Oral Risperidone in Patients With Schizophrenia and Alcohol Use Disorder
NCT00137020	PHASE4	COMPLETED	Clinical Effect Of Cross Titration Of Antipsychotics With Ziprasidone In Schizophrenia Or Schizoaffective Disorder
NCT00140166	PHASE4	COMPLETED	Treatment of Acute Schizophrenia With Vitamin Therapy
NCT00145847	PHASE4	COMPLETED	Naltrexone Treatment of Alcohol Abuse in Schizophrenia
NCT00148564	PHASE4	COMPLETED	Energy Homeostasis Under Treatment With Atypical Antipsychotics
NCT00156715	PHASE4	COMPLETED	Efficacy of Quetiapine in the Treatment of Patients With Schizophrenia and a Comorbid Substance Use Disorder
NCT00158223	PHASE4	COMPLETED	Effectiveness of Pimozide in Augmenting the Effects of Clozapine in the Treatment of Schizophrenia
NCT00159081	PHASE4	COMPLETED	One Year Drug Treatment in First-Episode Schizophrenia
NCT00159120	PHASE4	COMPLETED	Maintenance Treatment vs. Stepwise Drug Discontinuation in First-Episode Schizophrenia
NCT00159133	PHASE4	COMPLETED	Prodrome-Based Early Intervention With Antipsychotics vs. Benzodiazepines in First-Episode Schizophrenia
NCT00159757	PHASE4	TERMINATED	12 Week Open, Non-Comparative Switch Study Of Oral Ziprazidone In Previously Treated Schizophrenic Patients
NCT00167817	PHASE4	COMPLETED	Effect of Switch to Aripiprazole on Health and Smoking Parameters in Patients With Schizophrenia: A Pilot Study
NCT00169026	PHASE4	TERMINATED	Alcoholism and Schizophrenia: Effects of Clozapine
NCT00169039	PHASE4	TERMINATED	Clozapine Versus Chlorpromazine for Treatment-Unresponsive Schizophrenia
NCT00169065	PHASE4	COMPLETED	Effectiveness of Clozapine Versus Olanzapine for Treatment-resistant Schizophrenia
NCT00169091	PHASE4	TERMINATED	Clozapine Versus Haloperidol for Treating the First Episode of Schizophrenia
NCT00176423	PHASE4	COMPLETED	Efficacy Study of Galantamine for Cognitive Impairments in Schizophrenia
NCT00176436	PHASE4	COMPLETED	Atomoxetine for Treatment of Weight Gain in Olanzapine or Clozapine Patients
NCT00177008	PHASE4	COMPLETED	Aripiprazole for the Treatment of Schizophrenia With Co-Morbid Social Anxiety