GLT8D1

Summary

GLT8D1 (glycosyltransferase 8 domain containing 1, HGNC:24870) is a protein-coding gene on chromosome 3p21.1, encoding Glycosyltransferase 8 domain-containing protein 1 (Q68CQ7). In vitro, catalyzes the transfer of a galactose residue from UDP-galactose onto GalNAc and GlcNAc structures.

This gene encodes a member of the glycosyltransferase family. The specific function of this protein has not been determined. Alternative splicing results in multiple transcript variants of this gene

Source: NCBI Gene 55830 — RefSeq curated summary.

At a glance

• Gene–disease (curated): amyotrophic lateral sclerosis (Limited, ClinGen)
• GWAS associations: 24
• Clinical variants (ClinVar): 56 total — 1 likely-pathogenic
• Phenotypes (HPO): 47
• MANE Select transcript: NM_018446

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24870
Approved symbol	GLT8D1
Name	glycosyltransferase 8 domain containing 1
Location	3p21.1
Locus type	gene with protein product
Status	Approved
Aliases	AD-017, FLJ14611
Ensembl gene	ENSG00000016864
Ensembl biotype	protein_coding
OMIM	618399
Entrez	55830

Gene structure

Transcript identifiers

Ensembl transcripts: 42 — 36 protein_coding, 3 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000266014, ENST00000394783, ENST00000463762, ENST00000463827, ENST00000464705, ENST00000478968, ENST00000479553, ENST00000480080, ENST00000481643, ENST00000484163, ENST00000485899, ENST00000487642, ENST00000491606, ENST00000497436, ENST00000497953, ENST00000858361, ENST00000858362, ENST00000858363, ENST00000858364, ENST00000858365, ENST00000858366, ENST00000858367, ENST00000858368, ENST00000858369, ENST00000858370, ENST00000858371, ENST00000858372, ENST00000858373, ENST00000858374, ENST00000858375, ENST00000858376, ENST00000858377, ENST00000931556, ENST00000931557, ENST00000931558, ENST00000961059, ENST00000961060, ENST00000961061, ENST00000961062, ENST00000961063, ENST00000961064, ENST00000961065

RefSeq mRNA: 5 — MANE Select: NM_018446 NM_001010983, NM_001278280, NM_001278281, NM_018446, NM_152932

CCDS: CCDS2862

Canonical transcript exons

ENST00000266014 — 10 exons

Exon	Start	End
ENSE00001912020	52705447	52705791
ENSE00003472174	52697721	52697934
ENSE00003483991	52700262	52700360
ENSE00003536986	52695928	52696040
ENSE00003577838	52695190	52695302
ENSE00003649496	52700445	52700496
ENSE00003664231	52695421	52695587
ENSE00003674931	52696542	52696659
ENSE00003717640	52694486	52695035
ENSE00003747737	52696234	52696318

Expression profiles

Bgee: expression breadth ubiquitous, 296 present calls, max score 97.88.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.7898 / max 144.9108, expressed in 1796 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
42466	14.0638	1775
42463	6.6518	1558
42468	3.8067	1503
42464	1.2041	805
42467	0.0635	10

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pituitary gland	UBERON:0000007	97.88	gold quality
bronchial epithelial cell	CL:0002328	97.69	gold quality
adenohypophysis	UBERON:0002196	97.67	gold quality
right uterine tube	UBERON:0001302	97.65	gold quality
epithelium of bronchus	UBERON:0002031	97.39	gold quality
type B pancreatic cell	CL:0000169	97.28	silver quality
bronchus	UBERON:0002185	97.28	gold quality
adrenal tissue	UBERON:0018303	97.23	gold quality
left lobe of thyroid gland	UBERON:0001120	97.16	gold quality
stromal cell of endometrium	CL:0002255	97.09	gold quality
right lobe of thyroid gland	UBERON:0001119	97.08	gold quality
left testis	UBERON:0004533	96.98	gold quality
thyroid gland	UBERON:0002046	96.96	gold quality
right testis	UBERON:0004534	96.84	gold quality
ventricular zone	UBERON:0003053	96.66	gold quality
mucosa of paranasal sinus	UBERON:0005030	96.47	gold quality
left ovary	UBERON:0002119	96.33	gold quality
body of pancreas	UBERON:0001150	96.30	gold quality
tibial nerve	UBERON:0001323	96.30	gold quality
germinal epithelium of ovary	UBERON:0001304	96.27	gold quality
islet of Langerhans	UBERON:0000006	96.20	gold quality
epithelium of nasopharynx	UBERON:0001951	96.20	gold quality
endocervix	UBERON:0000458	96.19	gold quality
nasopharynx	UBERON:0001728	96.18	gold quality
right ovary	UBERON:0002118	96.12	gold quality
tibia	UBERON:0000979	96.10	gold quality
metanephros cortex	UBERON:0010533	95.96	gold quality
periodontal ligament	UBERON:0008266	95.95	gold quality
testis	UBERON:0000473	95.88	gold quality
right coronary artery	UBERON:0001625	95.88	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.15
E-MTAB-9689	no	225.34

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

26 targeting GLT8D1, 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-4534	99.99	66.58	1907
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-3714	99.71	70.74	2671
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-7157-5P	99.66	69.33	1829
HSA-MIR-4310	99.59	68.84	2527
HSA-MIR-582-5P	99.47	70.79	2635
HSA-MIR-4796-5P	99.34	70.06	810
HSA-MIR-3614-5P	99.30	65.25	837
HSA-MIR-4291	99.20	68.88	2969
HSA-MIR-544B	99.18	67.41	1632
HSA-MIR-4324	99.04	70.14	1569
HSA-MIR-1910-3P	98.44	67.51	1695
HSA-MIR-4277	98.34	67.17	1323
HSA-MIR-7843-3P	98.31	67.94	803
HSA-MIR-6511A-5P	98.13	67.47	1770
HSA-MIR-1972	97.67	67.38	1172
HSA-MIR-665	97.60	65.64	1781
HSA-MIR-617	96.79	65.96	738
HSA-MIR-5002-3P	95.75	67.04	542

Literature-anchored findings (GeneRIF, showing 13)

• GLT8D1 was found to be differentially methylated and differentially expressed in human squamous cell carcinomas. (PMID:22461910)
• Study showed the association of a polymorphism (rs2535629) of ITIH3 with psychiatric disorders in an Asian population and that rs2535629 influences the susceptibility to psychiatric disorders by affecting the expression level of GLT8D1 (PMID:24373612)
• rs6976 may contribute to hip osteoarthritis susceptibility by altering proximal femur shape. (PMID:25939412)
• ALMS1, GLT8D1, and CSNK2B are schizophrenia risk genes. (PMID:29483533)
• Amyotrophic lateral sclerosis (ALS)-causing mutations found within the gene encoding the glycosyltransferase GLT8D1. Five ALS-associated GLT8D1 mutations proximate to the substrate binding site. (PMID:30811981)
• The GEO data analysis exhibited that the GLT8D1 mRNA expression was upregulated in the melanoma samples compared with the benign nevus samples. Likewise, GLT8D1 protein expression in the cutaneous melanoma and mucosal melanoma samples was significantly higher than that in the benign nevus tissue samples. (PMID:31305325)
• Mutation analysis of GLT8D1 and ARPP21 genes in amyotrophic lateral sclerosis patients from mainland China. (PMID:31653410)
• Mutation screening and burden analysis of GLT8D1 in Chinese patients with amyotrophic lateral sclerosis. (PMID:33581933)
• Genetic analysis of GLT8D1 and ARPP21 in Australian familial and sporadic amyotrophic lateral sclerosis. (PMID:33581934)
• GLT8D1 may not be significant in Chinese sporadic amyotrophic lateral sclerosis patients. (PMID:33714647)
• Germinal GLT8D1, GATAD2A and SLC25A39 mutations in a patient with a glomangiopericytal tumor and five different sarcomas over a 10-year period. (PMID:33963205)
• Glycosyltransferase GLT8D1 and GLT8D2 serve as potential prognostic biomarkers correlated with Tumor Immunity in Gastric Cancer. (PMID:37277853)
• Glycosyltransferase 8 domain-containing protein 1 (GLT8D1) is a UDP-dependent galactosyltransferase. (PMID:38066107)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	glt8d1	ENSDARG00000040157
mus_musculus	Glt8d1	ENSMUSG00000021916
rattus_norvegicus	Glt8d1	ENSRNOG00000018179

Paralogs (1): GLT8D2 (ENSG00000120820)

Protein

Protein identifiers

Glycosyltransferase 8 domain-containing protein 1 — Q68CQ7 (reviewed: Q68CQ7)

All UniProt accessions (7): Q68CQ7, C9J6X9, C9J880, C9JNB0, C9JPK4, C9JY96, H7C4V6

UniProt curated annotations — full annotation on UniProt →

Function. In vitro, catalyzes the transfer of a galactose residue from UDP-galactose onto GalNAc and GlcNAc structures.

Subcellular location. Golgi apparatus membrane.

Post-translational modifications. N-glycosylated predominantly with complex N-glycans.

Similarity. Belongs to the glycosyltransferase 8 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q68CQ7-1	1	yes
Q68CQ7-2	2

RefSeq proteins (5): NP_001010983, NP_001265209, NP_001265210, NP_060916, NP_690909 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002495	Glyco_trans_8	Family
IPR029044	Nucleotide-diphossugar_trans	Homologous_superfamily
IPR050748	Glycosyltrans_8_dom-fam	Family

Pfam: PF01501

UniProt features (15 total): sequence conflict 4, topological domain 2, glycosylation site 2, splice variant 2, sequence variant 2, chain 1, mutagenesis site 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q68CQ7-F1	85.35	0.68

Functional residue map

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

Glycosylation sites (2): 249, 257

Mutagenesis-validated functional residues (1):

Position	Phenotype
92	does not affect protein abundance. does not affect location at golgi apparatus membrane. significantly decreased galacto

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 223 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, CEBALLOS_TARGETS_OF_TP53_AND_MYC_DN, ROSS_LEUKEMIA_WITH_MLL_FUSIONS, BROWNE_HCMV_INFECTION_14HR_DN, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, GCM_NF2, RICKMAN_TUMOR_DIFFERENTIATED_MODERATELY_VS_POORLY_UP, DANG_BOUND_BY_MYC, TGCCTTA_MIR124A, NUYTTEN_EZH2_TARGETS_DN, YAGI_AML_WITH_11Q23_REARRANGED, MOREAUX_MULTIPLE_MYELOMA_BY_TACI_DN, MODULE_69, BLALOCK_ALZHEIMERS_DISEASE_DN

GO Biological Process (0):

GO Molecular Function (3): UDP-glycosyltransferase activity (GO:0008194), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)

GO Cellular Component (2): Golgi apparatus (GO:0005794), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
glycosyltransferase activity	1
catalytic activity	1
transferase activity	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

686 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GLT8D1	NEK4	P51957	612
GLT8D1	GNL3	Q9BVP2	585
GLT8D1	OR6C65	A6NJZ3	581
GLT8D1	SPCS1	Q9Y6A9	548
GLT8D1	C6orf136	Q5SQH8	539
GLT8D1	SUPT3H	O75486	536
GLT8D1	ITIH3	Q06033	517
GLT8D1	MCF2L	O15068	510
GLT8D1	ASTN2	O75129	509
GLT8D1	KLHL42	Q9P2K6	505
GLT8D1	SH3TC1	Q8TE82	499
GLT8D1	FILIP1	Q7Z7B0	480
GLT8D1	UBQLN2	Q9UHD9	470
GLT8D1	DNAJC7	Q99615	465
GLT8D1	NDUFAB1	O14561	450

IntAct

72 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
IL13RA2	CHEK1	psi-mi:“MI:0914”(association)	0.640
SLC39A4	TMEM120B	psi-mi:“MI:0914”(association)	0.530
IL27RA	AP1G2	psi-mi:“MI:0914”(association)	0.530
TOR1AIP1	TXN	psi-mi:“MI:0914”(association)	0.530
SLC31A1	PRORP	psi-mi:“MI:0914”(association)	0.530
Shoc2	GABPB1	psi-mi:“MI:0914”(association)	0.350
Pdlim5	HECTD4	psi-mi:“MI:0914”(association)	0.350
UGGT1	SF3B1	psi-mi:“MI:0914”(association)	0.350
NS1	ESYT2	psi-mi:“MI:0914”(association)	0.350
OCRL	MYO1C	psi-mi:“MI:0914”(association)	0.350
ADGRE5	TMEM223	psi-mi:“MI:0914”(association)	0.350
HTR3C	TMEM223	psi-mi:“MI:0914”(association)	0.350
HLA-DPA1	GXYLT2	psi-mi:“MI:0914”(association)	0.350
HTR3A	GPAA1	psi-mi:“MI:0914”(association)	0.350
P2RX4	ORC4	psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
	PLOD2	psi-mi:“MI:0914”(association)	0.350
SLC16A11	ESYT2	psi-mi:“MI:0914”(association)	0.350
CANX	HLA-A	psi-mi:“MI:0914”(association)	0.350
MVD	FASN	psi-mi:“MI:0914”(association)	0.350
RAD17	EMC8	psi-mi:“MI:0914”(association)	0.350
TMED10	PGRMC1	psi-mi:“MI:0914”(association)	0.350
TMED2	PGRMC1	psi-mi:“MI:0914”(association)	0.350
ATG16L1	ESYT2	psi-mi:“MI:0914”(association)	0.350
TMEM106A	QSOX1	psi-mi:“MI:0914”(association)	0.350
TMEM59	GPR89A	psi-mi:“MI:0914”(association)	0.350
GPR182	SLC12A8	psi-mi:“MI:0914”(association)	0.350

BioGRID (73): GLT8D1 (Affinity Capture-MS), GLT8D1 (Affinity Capture-MS), GLT8D1 (Affinity Capture-MS), GLT8D1 (Affinity Capture-MS), GLT8D1 (Affinity Capture-MS), GLT8D1 (Affinity Capture-MS), GLT8D1 (Affinity Capture-MS), GLT8D1 (Affinity Capture-MS), GLT8D1 (Affinity Capture-MS), GLT8D1 (Affinity Capture-MS), GLT8D1 (Proximity Label-MS), GLT8D1 (Affinity Capture-MS), GLT8D1 (Affinity Capture-MS), GLT8D1 (Affinity Capture-MS), GLT8D1 (Affinity Capture-MS)

ESM2 similar proteins: A7XDQ9, B1WB06, B9SLR1, F4HXW9, F4I6V0, O43909, P97259, Q08834, Q09328, Q0WPA5, Q28I33, Q2HJ96, Q3E6Y3, Q4R3U7, Q5NDE5, Q5NDE6, Q5NDE7, Q5NDL0, Q5U3H3, Q640P4, Q66PG1, Q66PG2, Q68CQ7, Q6DJM3, Q6NMK1, Q6YRM6, Q8GUM0, Q8GXG6, Q8H1E6, Q8L7F9, Q8LPF8, Q8R4G6, Q8RX55, Q8RY81, Q8VXZ5, Q8W486, Q9ASW1, Q9C9Q5, Q9FMW3, Q9FXA7

Diamond homologs: O04253, O04536, O48684, Q0V7R1, Q5E9E7, Q5U3H3, Q640P4, Q68CQ7, Q6AYF6, Q8VYF4, Q949Q1, Q9FWY9, Q9LHD2, Q9LN68, Q9M8J2, Q9S7G2, Q9SKT6, Q28I33, Q2HJ96, Q4R3U7, Q6DJM3, Q6NSU3, Q8L4B0, Q93ZX7, Q9FWA4, Q9H1C3, Q0WQD2, Q9LE59, Q0WV13, Q8GWT1, Q8RXE1, Q9FH36, Q9LSG3, Q9M9Y5, Q9ZPZ1, Q9ZVI7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	37
Likely benign	1
Benign	7

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1344514	NM_018446.4(GLT8D1):c.393del (p.Lys131fs)	Likely pathogenic

SpliceAI

1812 predictions. Top by Δscore:

Variant	Effect	Δscore
3:52695299:CTCT:C	acceptor_gain	1.0000
3:52695301:CT:C	acceptor_gain	1.0000
3:52695303:C:CC	acceptor_gain	1.0000
3:52695304:T:C	acceptor_gain	1.0000
3:52695304:T:TC	acceptor_gain	1.0000
3:52695307:G:GC	acceptor_gain	1.0000
3:52695583:TTGTA:T	acceptor_gain	1.0000
3:52695588:C:CC	acceptor_gain	1.0000
3:52695923:TTTA:T	donor_loss	1.0000
3:52695924:TTACC:T	donor_loss	1.0000
3:52695925:TACCT:T	donor_loss	1.0000
3:52695926:A:C	donor_loss	1.0000
3:52695927:C:T	donor_loss	1.0000
3:52696037:TCAC:T	acceptor_gain	1.0000
3:52696038:CAC:C	acceptor_gain	1.0000
3:52696038:CACC:C	acceptor_gain	1.0000
3:52696041:C:CC	acceptor_gain	1.0000
3:52696319:C:CC	acceptor_gain	1.0000
3:52696534:GAACT:G	donor_loss	1.0000
3:52696535:AACTC:A	donor_loss	1.0000
3:52696536:ACTCA:A	donor_loss	1.0000
3:52696537:CTCAC:C	donor_loss	1.0000
3:52696538:TCA:T	donor_loss	1.0000
3:52696539:CA:C	donor_loss	1.0000
3:52696540:A:AC	donor_gain	1.0000
3:52696540:A:AG	donor_loss	1.0000
3:52696541:C:CG	donor_gain	1.0000
3:52696541:CA:C	donor_gain	1.0000
3:52696541:CAG:C	donor_gain	1.0000
3:52696541:CAGG:C	donor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000322546 (3:52697456 T>C), RS1000379708 (3:52697137 A>G), RS1000525756 (3:52697230 A>C,G,T), RS1000579401 (3:52705405 G>A), RS1000652330 (3:52703641 A>G), RS1000688759 (3:52704190 G>A), RS1000707844 (3:52698635 T>A), RS1000880404 (3:52704294 A>C), RS1001647583 (3:52696609 T>C), RS1001858273 (3:52703827 G>A,C), RS1001990771 (3:52706064 AC>A), RS1002048634 (3:52705059 G>C), RS1002160665 (3:52699582 G>A), RS1002542265 (3:52700661 G>A), RS1002695285 (3:52706940 G>C,T)

Disease associations

OMIM: gene MIM:618399 | disease phenotypes:

GenCC curated gene-disease

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
amyotrophic lateral sclerosis	Limited	AD

Mondo (2): amyotrophic lateral sclerosis (MONDO:0004976), frontotemporal dementia (MONDO:0017276)

Orphanet (2): Amyotrophic lateral sclerosis (Orphanet:803), Frontotemporal dementia (Orphanet:282)

HPO phenotypes

47 total (30 of 47 shown, HPO-id order):

HPO	Term
HP:0000217	Xerostomia
HP:0000708	Atypical behavior
HP:0000712	Emotional lability
HP:0000716	Depression
HP:0000739	Anxiety
HP:0001257	Spasticity
HP:0001260	Dysarthria
HP:0001308	Tongue fasciculations
HP:0001347	Hyperreflexia
HP:0001618	Dysphonia
HP:0001824	Weight loss
HP:0002015	Dysphagia
HP:0002094	Dyspnea
HP:0002145	Frontotemporal dementia
HP:0002180	Neurodegeneration
HP:0002307	Drooling
HP:0002313	Spastic paraparesis
HP:0002360	Sleep disturbance
HP:0002380	Fasciculations
HP:0002463	Language impairment
HP:0002878	Respiratory failure
HP:0003202	Skeletal muscle atrophy
HP:0003324	Generalized muscle weakness
HP:0003376	Steppage gait
HP:0003394	Muscle spasm
HP:0003470	Paralysis
HP:0003484	Upper limb muscle weakness
HP:0003487	Babinski sign
HP:0003693	Distal amyotrophy
HP:0004326	Cachexia

GWAS associations

24 associations (top):

Study	Trait	p-value
GCST001241_15	Bipolar disorder	2.000000e-06
GCST001592_2	Osteoarthritis	5.000000e-09
GCST002149_14	Schizophrenia	1.000000e-08
GCST002539_48	Schizophrenia	4.000000e-11
GCST004521_123	Autism spectrum disorder or schizophrenia	3.000000e-12
GCST004521_201	Autism spectrum disorder or schizophrenia	4.000000e-08
GCST004521_259	Autism spectrum disorder or schizophrenia	6.000000e-09
GCST004946_141	Schizophrenia	5.000000e-13
GCST006803_55	Schizophrenia	1.000000e-11
GCST007092_20	Osteoarthritis of the hip or knee	2.000000e-10
GCST007096_218	Pulse pressure	1.000000e-08
GCST007099_119	Systolic blood pressure	7.000000e-09
GCST008103_3	Bipolar disorder	7.000000e-11
GCST010698_14	Subcortical volume (min-P)	8.000000e-09
GCST010699_73	Brain morphology (min-P)	1.000000e-18
GCST010701_137	Cortical surface area (MOSTest)	8.000000e-10
GCST010702_70	Subcortical volume (MOSTest)	2.000000e-11
GCST010703_327	Brain morphology (MOSTest)	1.000000e-10
GCST012228_58	Waist-hip index	1.000000e-09
GCST012230_259	Waist-to-hip ratio adjusted for BMI	2.000000e-09
GCST90020024_1211	A body shape index	6.000000e-11
GCST90020025_1343	Waist-to-hip ratio adjusted for BMI	8.000000e-10
GCST90020027_141	Waist-hip index	5.000000e-10
GCST90020029_1189	Waist circumference adjusted for body mass index	2.000000e-10

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0005763	pulse pressure measurement
EFO:0006335	systolic blood pressure
EFO:0004346	neuroimaging measurement
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0007789	BMI-adjusted waist circumference

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D000690	Amyotrophic Lateral Sclerosis	C10.228.854.139; C10.574.562.250; C10.574.950.050; C10.668.467.250; C18.452.845.800.050
D057180	Frontotemporal Dementia	C10.228.140.380.266.299; C10.574.950.300.299; C18.452.845.800.300.299; F03.615.400.380.299

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	decreases expression	3
Air Pollutants	decreases expression, increases expression, affects expression, increases abundance	3
sodium arsenite	increases abundance, decreases expression, affects cotreatment	2
Smoke	decreases expression, increases abundance, increases expression	2
Cyclosporine	decreases expression, increases expression	2
Cadmium Chloride	decreases expression	2
dicrotophos	decreases expression	1
bisphenol A	affects expression	1
deoxynivalenol	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
perfluorooctanoic acid	decreases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
periodate-oxidized adenosine	affects expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
K 7174	decreases expression	1
abrine	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Air Pollutants, Occupational	decreases expression	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Benzo(a)pyrene	decreases expression	1
Caffeine	decreases expression	1
Cisplatin	affects cotreatment, increases expression	1
Dimethyl Sulfoxide	affects expression	1
Ethyl Methanesulfonate	increases expression	1
Hydrogen Peroxide	affects expression	1
Ivermectin	decreases expression	1
Manganese	decreases expression, increases abundance, affects cotreatment	1
Methyl Methanesulfonate	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00542412	PHASE4	COMPLETED	CARE Canadian ALS Riluzole Evaluation
NCT00560287	PHASE4	UNKNOWN	Non-Invasive Ventilation in Amyotrophic Lateral Sclerosis
NCT00613899	PHASE4	COMPLETED	Feasibility of Telesurveillance and Home Cough Assistance for Amyotrophic Lateral Patients (ALS)
NCT04997954	PHASE4	UNKNOWN	EMERALD TRIAL Open Label Extension Study
NCT06849115	PHASE4	COMPLETED	Effects of L-Carnitine in Amyotrophic Lateral Sclerosis Patients With CHCHD10 Mutations
NCT07223723	PHASE4	RECRUITING	A Study to Learn More About the Long-Term Safety of Tofersen (Qalsody) in Chinese Participants With SOD-1 Amyotrophic Lateral Sclerosis (ALS)
NCT00021697	PHASE3	COMPLETED	Safety/Efficacy of AVP-923 in the Treatment of Emotional Lability (Uncontrolled Crying & Laughing) in Patients With ALS
NCT00035815	PHASE3	COMPLETED	Insulin-like Growth Factor-1 in Amyotrophic Lateral Sclerosis (ALS) Trial
NCT00047723	PHASE3	COMPLETED	Minocycline to Treat Amyotrophic Lateral Sclerosis
NCT00069186	PHASE3	UNKNOWN	Study of Creatine Monohydrate in Patients With Amyotrophic Lateral Sclerosis
NCT00136110	PHASE3	COMPLETED	Trial of Sodium Valproate in Amyotrophic Lateral Sclerosis
NCT00330681	PHASE3	COMPLETED	Efficacy and Safety Study of MCI-186 for Treatment of Amyotrophic Lateral Sclerosis (ALS)
NCT00349622	PHASE3	COMPLETED	Clinical Trial Ceftriaxone in Subjects With ALS
NCT00372879	PHASE3	COMPLETED	Clinical Trial of Vitamin E to Treat Muscular Cramps in Patients With ALS
NCT00415519	PHASE3	COMPLETED	Efficacy and Safety Study of MCI-186 for Treatment of Amyotrophic Lateral Sclerosis (ALS) Who Met Severity Classification III
NCT00424463	PHASE3	COMPLETED	Expanded Controlled Study of Safety and Efficacy of MCI-186 in Patients With Amyotrophic Lateral Sclerosis (ALS)
NCT00839033	PHASE3	TERMINATED	Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders
NCT00868166	PHASE3	COMPLETED	Safety and Efficacy of TRO19622 as add-on Therapy to Riluzole Versus Placebo in Treatment of Patients Suffering From ALS
NCT00965497	PHASE3	COMPLETED	Escitalopram (Lexapro) for Depression MS or ALS
NCT01016522	PHASE3	TERMINATED	Safety and Tolerability of the Ketogenic Diet in Amyotrophic Lateral Sclerosis (ALS)
NCT01160263	PHASE3	COMPLETED	Study of Dopamine and Serotonin Transporters in Patients With Amyotrophic Lateral Sclerosis and Controls
NCT01281189	PHASE3	COMPLETED	Phase 3 Study of Dexpramipexole in ALS
NCT01492686	PHASE3	COMPLETED	Phase 3 Study of MCI-186 for Treatment of Amyotrophic Lateral Sclerosis
NCT01583088	PHASE3	TERMINATED	Early Stage Amyotrophic Lateral Sclerosis Phrenic Stimulation
NCT01622088	PHASE3	TERMINATED	Phase 3 Extension Study of Dexpramipexole in ALS
NCT02496767	PHASE3	COMPLETED	Ventilatory Investigation of Tirasemtiv and Assessment of Longitudinal Indices After Treatment for a Year
NCT02623699	PHASE3	COMPLETED	An Efficacy, Safety, Tolerability, Pharmacokinetics and Pharmacodynamics Study of BIIB067 (Tofersen) in Adults With Inherited Amyotrophic Lateral Sclerosis (ALS)
NCT02936635	PHASE3	COMPLETED	A Study for Patients Who Completed VITALITY-ALS (CY 4031)
NCT03127267	PHASE3	RECRUITING	Efficacy and Safety of Masitinib Versus Placebo in the Treatment of ALS Patients
NCT03280056	PHASE3	COMPLETED	Safety and Efficacy of Repeated Administrations of NurOwn® in ALS Patients
NCT03491462	PHASE3	COMPLETED	Arimoclomol in Amyotropic Lateral Sclerosis
NCT03505021	PHASE3	COMPLETED	Effects of Oral Levosimendan (ODM-109) on Respiratory Function in Patients With ALS
NCT03548311	PHASE3	COMPLETED	Clinical Trial of Ultra-high Dose Methylcobalamin for ALS
NCT03690791	PHASE3	UNKNOWN	Efficacy of Cannabinoids in Amyotrophic Lateral Sclerosis or Motor Neurone Disease
NCT03800524	PHASE3	UNKNOWN	Safety and Efficacy of TUDCA as add-on Treatment in Patients Affected by ALS
NCT03836716	PHASE3	TERMINATED	Arimoclomol in Amyotropic Lateral Sclerosis - Open Label Extension Trial
NCT03948178	PHASE3	TERMINATED	Effects of Oral Levosimendan on Respiratory Function in Patients With Amyotrophic Lateral Sclerosis (ALS): Open-Label Extension
NCT04165824	PHASE3	COMPLETED	Safety Study of Oral Edaravone Administered in Subjects With ALS
NCT04248465	PHASE3	TERMINATED	An Efficacy and Safety Study of Ravulizumab in ALS Participants
NCT04569084	PHASE3	TERMINATED	Efficacy and Safety Study of Oral Edaravone Administered in Subjects With ALS