GBA Gene Complete Identifier and Functional Mapping Reference
Provide a comprehensive cross-database identifier and functional mapping reference for human GBA — a definitive lookup resource covering: ### Section 1: Gene identifiers For human gene GBA, list ALL gene-level database identifiers. Required: - HGNC ID and approved symbol - Ensembl gene ID (ENSG...) - NCBI Entrez Gene ID - OMIM gene/locus ID - Genomic location: chromosome, start position, end position, strand (GRCh38) ### Section 2: Transcript identifiers For human gene GBA, list ALL transcript-level identifiers. Required: - Ensembl transcripts: ALL ENST IDs with biotype. Total count. - RefSeq transcripts: ALL NM_ mRNA accessions. Mark which is MANE Select. - CCDS IDs. - For the CANONICAL/MANE SELECT transcript: ALL exon IDs (ENSE) with genomic coordinates and total exon count. ### Section 3: Protein identifiers For human gene GBA protein product(s), list ALL protein-level identifiers. Required: - UniProt accessions: ALL entries (reviewed and unreviewed). Mark the canonical reviewed entry. - RefSeq protein: ALL NP_ accessions. - Protein domains and families: list ALL annotated domains/families with identifiers, including name, type (domain/family/superfamily), and ID. - Antibody availability: known antibody resources for the protein. ### Section 4: Structure For human gene GBA protein, list ALL structural data. Required: - Experimental structures: ALL PDB IDs. For each: experimental method (X-ray/NMR/Cryo-EM) and resolution. Total count. - Predicted structures: AlphaFold model ID and confidence metrics (pLDDT). ### Section 5: Cross-species orthologs For human gene GBA, list orthologous genes in key model organisms. Organisms: - Mouse (Mus musculus): gene ID, symbol - Rat (Rattus norvegicus): gene ID, symbol - Zebrafish (Danio rerio): gene ID, symbol - Fruit fly (Drosophila melanogaster): gene ID, symbol - Worm (C. elegans): gene ID, symbol - Yeast (S. cerevisiae): gene ID, symbol ### Section 6: Clinical variants & AI predictions For human gene GBA, summarize clinical variants and AI predictions. Clinical variant annotations (ClinVar): - Total variant count (approximate is fine) - Breakdown by classification: Pathogenic, Likely Pathogenic, VUS, Likely Benign, Benign - TOP 30 pathogenic/likely pathogenic variants with: variant ID, HGVS notation, associated condition AI-based variant effect predictions: - Splice effect predictions: total count + TOP 30 with delta scores if known - Missense pathogenicity from AlphaMissense — total count + TOP 30 likely-pathogenic with am_pathogenicity scores. ### Section 7: Pathways & Gene Ontology For human gene GBA, list biological pathways and Gene Ontology annotations. Pathway membership: - ALL biological pathways this gene participates in, with pathway IDs and names - Total pathway count Gene Ontology: - Biological Process: count and TOP 20 terms with GO IDs - Molecular Function: count and TOP 20 terms with GO IDs - Cellular Component: count and TOP 20 terms with GO IDs ### Section 8: Protein interactions & networks For human gene GBA protein, summarize protein interactions and networks. Protein-protein interactions (STRING, IntAct, BioGRID, etc.): - Total interaction count (approximate) - TOP 30 highest-confidence interacting proteins with scores/evidence Protein similarity: - Structural/embedding similarity (e.g. Foldseek, ESM): TOP 20 similar proteins with scores - Sequence homology: TOP 20 homologous proteins with identity/similarity ### Section 9: Transcription factor regulatory data For human gene GBA, summarize transcription factor regulatory data. If GBA is a transcription factor: - Downstream targets: total count + TOP 30 with regulation type (activates/represses) and evidence - DNA binding motifs from JASPAR — all known motif IDs and motif family classification. Regardless: - Upstream regulators: TFs that regulate GBA — names with evidence type (ChIP-seq / predicted / experimentally validated) If GBA is not a transcription factor, say so briefly and skip the downstream/motif sections. ### Section 10: Drug & pharmacology data For human gene GBA protein as a drug target, summarize pharmacology data. If GBA is a known drug target: - Targeting molecules: total count in ChEMBL/DrugBank + TOP 30 by development phase (molecule ID, name, mechanism, highest phase) - Clinical trials: TOP 20 involving drugs targeting this gene — trial ID, phase, status, intervention - Pharmacogenomics: known drug-gene interactions affecting drug response + dosing guidelines if any If GBA is not currently a drug target, say so briefly. ### Section 11: Expression profiles For human gene GBA, summarize expression profiles. Tissue expression (GTEx, HPA, Bgee, etc.): - TOP 30 tissues with expression scores/levels (direction, units if known) - Note tissue-specific or tissue-enriched patterns Cell type expression (Tabula Sapiens, HCA, etc.): - TOP 30 cell types with expression scores - Note cell-type-specific patterns Single-cell expression: notable datasets or cell populations of interest for this gene. ### Section 12: Disease associations For human gene GBA, summarize disease associations. Mendelian / monogenic disease: - Diseases caused by mutations in GBA: disease name, disease ID (OMIM/Orphanet/Mondo), inheritance pattern, evidence level - Include all directly linked conditions Phenotype associations: - Clinical phenotypes associated with the gene (HPO terms where known) - TOP 30 phenotype terms with HPO IDs Complex-disease / GWAS: - Traits and diseases significantly associated via GWAS: trait name, variant, effect size, study where known - TOP 30 GWAS associations
Executive summary
GBA (approved symbol GBA1, HGNC:4177) encodes lysosomal acid glucosylceramidase, an enzyme that catabolizes glucosylceramide to ceramide and glucose within the lysosome. It is clinically essential because biallelic loss-of-function mutations cause all forms of Gaucher disease — the most prevalent lysosomal storage disorder — spanning a spectrum from the non-neuronopathic type I through the perinatal-lethal form, all inherited in an autosomal recessive manner. Heterozygous GBA mutations are also one of the strongest known genetic risk factors for Parkinson’s disease, with multiple GWAS signals reaching p-values as low as 3×10⁻³⁵, and the protein’s interaction network converges on key Parkinson’s-linked proteins including alpha-synuclein (SNCA), LRRK2, PINK1, and parkin. The gene is expressed ubiquitously across 134 tissues — highest in immune and endocrine compartments — consistent with its housekeeping lysosomal role. Therapeutically, GBA is one of the best-validated rare-disease drug targets, with four approved Phase 4 treatment strategies: enzyme replacement (imiglucerase, velaglucerase alfa, taliglucerase alfa), substrate reduction (miglustat, eliglustat), and pharmacological chaperone (migalastat) approaches.
GBA — Reference
Cross-database identifier and functional mapping reference for GBA.
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4177 |
| Approved symbol | GBA1 |
| Previous symbol | GBA |
| Ensembl gene ID | ENSG00000177628 |
| NCBI Entrez Gene ID | 2629 |
| OMIM gene/locus ID | 606463 |
| Chromosome | 1 |
| Start position (GRCh38) | 155,234,447 bp |
| End position (GRCh38) | 155,245,178 bp |
| Strand | − (negative) |
Transcript identifiers
Ensembl Transcripts
Total: 27 transcripts
| Transcript ID | Biotype |
|---|---|
| ENST00000327247 | protein_coding |
| ENST00000368373 | protein_coding |
| ENST00000427500 | protein_coding |
| ENST00000428024 | protein_coding |
| ENST00000460156 | protein_coding_CDS_not_defined |
| ENST00000464536 | protein_coding_CDS_not_defined |
| ENST00000467918 | protein_coding_CDS_not_defined |
| ENST00000470104 | protein_coding_CDS_not_defined |
| ENST00000473570 | protein_coding_CDS_not_defined |
| ENST00000478472 | protein_coding_CDS_not_defined |
| ENST00000484489 | protein_coding_CDS_not_defined |
| ENST00000491081 | protein_coding_CDS_not_defined |
| ENST00000493842 | protein_coding_CDS_not_defined |
| ENST00000497670 | protein_coding_CDS_not_defined |
| ENST00000852359 | protein_coding |
| ENST00000852360 | protein_coding |
| ENST00000852361 | protein_coding |
| ENST00000852362 | protein_coding |
| ENST00000852363 | protein_coding |
| ENST00000852364 | protein_coding |
| ENST00000852365 | protein_coding |
| ENST00000852366 | protein_coding |
| ENST00000852367 | protein_coding |
| ENST00000852368 | protein_coding |
| ENST00000948996 | protein_coding |
| ENST00000948997 | protein_coding |
| ENST00000948998 | protein_coding |
RefSeq mRNA Accessions
Total: 13 NM_ accessions
| Accession | MANE Select |
|---|---|
| NM_000157 | ✓ |
| NM_001005741 | |
| NM_001005742 | |
| NM_001077411 | |
| NM_001127639 | |
| NM_001171811 | |
| NM_001171812 | |
| NM_001409958 | |
| NM_001409959 | |
| NM_001409960 | |
| NM_001409961 | |
| NM_001409962 | |
| NM_008094 |
CCDS Identifiers
- CCDS1102
- CCDS53373
- CCDS53374
MANE Select Transcript: ENST00000368373 (RefSeq: NM_000157)
Exons: 11 total
| Exon ID | Start | End | Strand | Chromosome |
|---|---|---|---|---|
| ENSE00001917720 | 155234452 | 155235100 | − | 1 |
| ENSE00003644399 | 155235195 | 155235311 | − | 1 |
| ENSE00003506590 | 155235681 | 155235844 | − | 1 |
| ENSE00001231060 | 155236245 | 155236469 | − | 1 |
| ENSE00003488376 | 155237341 | 155237578 | − | 1 |
| ENSE00003562842 | 155238134 | 155238306 | − | 1 |
| ENSE00003618264 | 155238517 | 155238650 | − | 1 |
| ENSE00003499798 | 155239616 | 155239762 | − | 1 |
| ENSE00003675620 | 155239886 | 155240077 | − | 1 |
| ENSE00003469059 | 155240630 | 155240717 | − | 1 |
| ENSE00001890492 | 155241086 | 155241249 | − | 1 |
Protein identifiers
UniProt Accessions
- P04062 (Lysosomal acid glucosylceramidase) — canonical reviewed entry ✓
- A0A068F658 — unreviewed
RefSeq Protein (NP_ accessions)
- NP_000148 (MANE Select, REVIEWED) ✓
- NP_001005741 (REVIEWED)
- NP_001005742 (REVIEWED)
- NP_001070879 (VALIDATED)
- NP_001121111 (PROVISIONAL)
- NP_001165282 (REVIEWED)
- NP_001165283 (REVIEWED)
- NP_001396887 (VALIDATED)
- NP_001396888 (VALIDATED)
- NP_001396889 (VALIDATED)
- NP_001396890 (VALIDATED)
- NP_001396891 (VALIDATED)
- NP_032120 (VALIDATED)
Protein Domains and Families
| ID | Name | Type |
|---|---|---|
| IPR001139 | Glycoside hydrolase family 30 | Family |
| IPR017853 | Glycoside hydrolase superfamily | Homologous superfamily |
| IPR033452 | Glycosyl hydrolase family 30, beta sandwich domain | Domain |
| IPR033453 | Glycosyl hydrolase family 30, TIM-barrel domain | Domain |
| PF02055 | — | Pfam domain |
| PF17189 | — | Pfam domain |
| SSF51011 | — | SUPERFAM superfamily |
| SSF51445 | — | SUPERFAM superfamily |
| PTHR11069 | Glycosidase, family 1 subfamily | PANTHER family |
| PTHR11069:SF33 | Beta-glucosidase | PANTHER subfamily |
Antibody Availability
No antibody resources found in biobtree antibody database.
Structure
Experimental Structures
Total: 58 PDB entries
| PDB ID | Method | Resolution (Å) |
|---|---|---|
| 1OGS | X-ray | 2.0 |
| 1Y7V | X-ray | 2.4 |
| 2F61 | X-ray | 2.5 |
| 2J25 | X-ray | 2.9 |
| 2NSX | X-ray | 2.11 |
| 2NT0 | X-ray | 1.79 |
| 2NT1 | X-ray | 2.3 |
| 2V3D | X-ray | 1.96 |
| 2V3E | X-ray | 2.0 |
| 2V3F | X-ray | 1.95 |
| 2VT0 | X-ray | 2.15 |
| 2WCG | X-ray | 2.3 |
| 2WKL | X-ray | 2.7 |
| 2XWD | X-ray | 2.66 |
| 2XWE | X-ray | 2.31 |
| 3GXD | X-ray | 2.5 |
| 3GXF | X-ray | 2.4 |
| 3GXI | X-ray | 1.84 |
| 3GXM | X-ray | 2.2 |
| 3KE0 | X-ray | 2.7 |
| 3KEH | X-ray | 2.8 |
| 3RIK | X-ray | 2.48 |
| 3RIL | X-ray | 2.4 |
| 5LVX | X-ray | 2.2 |
| 6MOZ | X-ray | 2.1 |
| 6Q1N | X-ray | 2.526 |
| 6Q1P | X-ray | 2.796 |
| 6Q6K | X-ray | 1.92 |
| 6Q6L | X-ray | 1.81 |
| 6Q6N | X-ray | 1.63 |
| 6T13 | X-ray | 1.85 |
| 6TJJ | X-ray | 1.59 |
| 6TJK | X-ray | 1.56 |
| 6TJQ | X-ray | 1.41 |
| 6TN1 | X-ray | 0.98 |
| 6YTP | X-ray | 1.7 |
| 6YTR | X-ray | 1.7 |
| 6YUT | X-ray | 1.76 |
| 6YV3 | X-ray | 1.8 |
| 6Z39 | X-ray | 1.7 |
| 6Z3I | X-ray | 1.8 |
| 7NWV | X-ray | 1.86 |
| 8AWK | X-ray | 1.58 |
| 8AWR | X-ray | 1.49 |
| 8AX3 | X-ray | 1.59 |
| 8P3E | X-ray | 1.75 |
| 8P41 | X-ray | 1.83 |
| 9ENA | X-ray | 1.7 |
| 9F9Z | X-ray | 2.279 |
| 9FA3 | X-ray | 1.36 |
| 9FA6 | X-ray | 1.49 |
| 9FAD | X-ray | 1.8 |
| 9FAL | X-ray | 1.39 |
| 9FAY | X-ray | 1.4 |
| 9FAZ | X-ray | 1.63 |
| 9FB2 | X-ray | 1.14 |
| 9FDI | X-ray | 1.41 |
| 9FJF | Cryo-EM | 3.7 |
Experimental methods: 57 X-ray structures, 1 Cryo-EM structure
Predicted Structures
| Model ID | Global pLDDT | pLDDT >70 (%) |
|---|---|---|
| P04062 | 93.46 | 89 |
Cross-species orthologs
| Organism | Gene ID | Symbol |
|---|---|---|
| Mouse (Mus musculus) | ENSMUSG00000028048 | Gba1 |
| Rat (Rattus norvegicus) | ENSRNOG00000049281 | Gba1 |
| Zebrafish (Danio rerio) | ENSDARG00000076058 | gba1 |
| Fruit fly (Drosophila melanogaster) | FBGN0051148 / FBGN0051414 | Gba1a / Gba1b |
| Worm (C. elegans) | WBGENE00016335 / WBGENE00016340 / WBGENE00008706 / WBGENE00021160 | gba-1 / gba-2 / gba-3 / gba-4 |
| Yeast (S. cerevisiae) | none | none |
Clinical variants & AI predictions
ClinVar Summary
Total variants: ~538
Classification breakdown:
| Classification | Count (estimated from 200-variant sample) |
|---|---|
| Uncertain significance | ~110 |
| Likely benign | ~25 |
| Likely pathogenic | ~30 |
| Pathogenic | ~15 |
| Benign | ~10 |
| Conflicting classifications | ~15 |
TOP 30 Pathogenic/Likely Pathogenic variants:
| ClinVar ID | HGVS Notation | Classification | Associated Condition |
|---|---|---|---|
| 1321421 | c.256C>T (p.Arg86Ter) | Pathogenic | Gaucher disease |
| 1321450 | c.203del (p.Pro68fs) | Pathogenic | Gaucher disease |
| 1322984 | c.1388+1G>A | Pathogenic | Gaucher disease |
| 1322986 | c.408_412del (p.Pro137fs) | Pathogenic/Likely pathogenic | Gaucher disease |
| 193611 | c.1265_1319del (p.Leu422fs) | Pathogenic | Gaucher disease |
| 1119997 | c.604C>T (p.Arg202Ter) | Pathogenic/Likely pathogenic | Gaucher disease |
| 1211295 | c.1249T>G (p.Trp417Gly) | Pathogenic/Likely pathogenic | Gaucher disease |
| 21070 | c.1505G>A (p.Arg502His) | Pathogenic/Likely pathogenic | Gaucher disease |
| 21072 | c.703T>C (p.Ser235Pro) | Pathogenic/Likely pathogenic | Gaucher disease |
| 1722541 | c.1361C>T (p.Pro454Leu) | Pathogenic | Gaucher disease |
| 1799756 | c.236_237del (p.Arg78_Tyr79insTer) | Pathogenic | Gaucher disease |
| 2503944 | c.260G>A (p.Arg87Gln) | Pathogenic | Gaucher disease |
| 2436490 | c.1260G>A (p.Trp420Ter) | Pathogenic | Gaucher disease |
| 2581173 | c.1054T>C (p.Tyr352His) | Pathogenic | Gaucher disease |
| 1677224 | c.1439_1445del (p.Lys480fs) | Pathogenic | Gaucher disease |
| 281586 | c.580A>T (p.Lys194Ter) | Pathogenic | Gaucher disease |
| 3257292 | c.1193G>T (p.Arg398Leu) | Pathogenic | Gaucher disease |
| 3064209 | c.820G>A (p.Glu274Lys) | Pathogenic | Gaucher disease |
| 3251365 | c.680A>T (p.Asn227Ile) | Pathogenic | Gaucher disease |
| 2682534 | c.1193G>A (p.Arg398Gln) | Pathogenic/Likely pathogenic | Gaucher disease |
| 1065557 | c.914C>T (p.Pro305Leu) | Likely pathogenic | Gaucher disease |
| 1184271 | c.1255G>A (p.Asp419Asn) | Likely pathogenic | Gaucher disease |
| 1214070 | c.518C>A (p.Thr173Asn) | Likely pathogenic | Gaucher disease |
| 1319931 | c.1312G>C (p.Asp438His) | Likely pathogenic | Gaucher disease |
| 1675378 | c.761+4A>G | Likely pathogenic | Gaucher disease |
| 1678026 | c.376_377del (p.Asp126fs) | Likely pathogenic | Gaucher disease |
| 1691430 | c.1537G>A (p.Asp513Asn) | Likely pathogenic | Gaucher disease |
| 1698566 | c.1505+2T>A | Likely pathogenic | Gaucher disease |
| 2500802 | c.896T>A (p.Ile299Asn) | Likely pathogenic | Gaucher disease |
| 1799861 | c.364G>C (p.Gly122Arg) | Likely pathogenic | Gaucher disease |
SpliceAI Predictions
Total predictions: ~1,337
High-confidence splice-affecting variants (delta score ≥0.8): ~80+
TOP 30 variants with highest delta scores:
| Position | Variant | Effect Type | Delta Score |
|---|---|---|---|
| 1:155235206 | GTT | donor_gain | 0.99 |
| 1:155235308 | CTTG | acceptor_gain | 1.00 |
| 1:155235189 | CCTCA | acceptor_loss | 0.99 |
| 1:155235191 | TCACC | acceptor_loss | 0.99 |
| 1:155235192 | CACCG | acceptor_loss | 0.99 |
| 1:155235193 | ACC | acceptor_loss | 0.99 |
| 1:155235194 | CCGG | acceptor_gain | 0.76 |
| 1:155235297 | TG | acceptor_gain | 0.98 |
| 1:155235298 | C>A | acceptor_gain | 0.97 |
| 1:155234599 | TCCAG | acceptor_gain | 0.91 |
| 1:155234600 | C>G | acceptor_gain | 0.91 |
| 1:155235098 | GAGCT | acceptor_gain | 0.91 |
| 1:155235099 | AGC | acceptor_loss | 0.96 |
| 1:155235100 | GCT | acceptor_gain | 0.93 |
| 1:155235101 | C>CC | acceptor_gain | 0.99 |
| 1:155235102 | T>C | acceptor_loss | 0.96 |
| 1:155235109 | C>CT | acceptor_gain | 0.93 |
| 1:155235110 | A>T | acceptor_gain | 0.90 |
| 1:155235096 | AGGAG | acceptor_gain | 0.88 |
| 1:155235069 | CCT | acceptor_gain | 0.87 |
| 1:155235187 | GCCCT | acceptor_gain | 0.64 |
| 1:155235188 | CCCT | acceptor_loss | 0.98 |
| 1:155235304 | TGAA | acceptor_gain | 0.84 |
| 1:155235205 | C>CT | acceptor_gain | 0.83 |
| 1:155234602 | A>T | acceptor_gain | 0.83 |
| 1:155235072 | T>A | acceptor_gain | 0.38 |
| 1:155235097 | GGAG | acceptor_gain | 0.98 |
| 1:155235098 | GAG | acceptor_gain | 0.96 |
| 1:155235099 | AG | acceptor_gain | 0.95 |
| 1:155234976 | T>TA | donor_gain | 0.98 |
AlphaMissense Pathogenicity Predictions
Total missense predictions: ~1,900+
Likely pathogenic variants: ~180+
TOP 30 likely-pathogenic variants by am_pathogenicity score:
| Position | Protein Change | am_pathogenicity | am_class |
|---|---|---|---|
| 1:155235007 | W533C | 0.970 | likely_pathogenic |
| 1:155235009 | W533R | 0.982 | likely_pathogenic |
| 1:155235008 | W533S | 0.926 | likely_pathogenic |
| 1:155235008 | W533L | 0.746 | likely_pathogenic |
| 1:155235009 | W533G | 0.798 | likely_pathogenic |
| 1:155235011 | L532P | 0.891 | likely_pathogenic |
| 1:155235015 | Y531H | 0.798 | likely_pathogenic |
| 1:155235015 | Y531D | 0.970 | likely_pathogenic |
| 1:155235015 | Y531N | 0.921 | likely_pathogenic |
| 1:155235034 | Y531S | 0.839 | likely_pathogenic |
| 1:155235017 | T530I | 0.970 | likely_pathogenic |
| 1:155235018 | T530P | 0.936 | likely_pathogenic |
| 1:155235018 | T530A | 0.691 | likely_pathogenic |
| 1:155235020 | H529P | 0.875 | likely_pathogenic |
| 1:155235023 | I528T | 0.922 | likely_pathogenic |
| 1:155235023 | I528S | 0.923 | likely_pathogenic |
| 1:155235023 | I528N | 0.977 | likely_pathogenic |
| 1:155235026 | S527F | 0.961 | likely_pathogenic |
| 1:155235027 | S527P | 0.984 | likely_pathogenic |
| 1:155235026 | S527Y | 0.956 | likely_pathogenic |
| 1:155235067 | D513E | 0.763 | likely_pathogenic |
| 1:155235067 | D513H | 0.876 | likely_pathogenic |
| 1:155235068 | D513V | 0.715 | likely_pathogenic |
| 1:155235068 | D513C | 0.836 | likely_pathogenic |
| 1:155235069 | D513N | 0.722 | likely_pathogenic |
| 1:155235069 | D513Y | 0.711 | likely_pathogenic |
| 1:155235074 | I511S | 0.961 | likely_pathogenic |
| 1:155235074 | I511T | 0.946 | likely_pathogenic |
| 1:155235074 | I511N | 0.977 | likely_pathogenic |
| 1:155235080 | L509P | 0.898 | likely_pathogenic |
Pathways & Gene Ontology
Biological Pathways
| Pathway Type | ID | Name |
|---|---|---|
| Reactome | R-HSA-390471 | Association of TriC/CCT with target proteins during biosynthesis |
| Reactome | R-HSA-9840310 | Glycosphingolipid catabolism |
Total pathway count: 2 (Reactome)
MSigDB contains 100 gene sets including the Reactome pathway “Sphingolipid metabolism” (M14857) and KEGG equivalent (M15955), plus diverse GO-annotated gene sets covering lipid catabolism, neuronal development, immune response, and autophagy pathways.
Gene Ontology Annotations
Biological Process (51 terms total)
| Rank | GO ID | Term |
|---|---|---|
| 1 | GO:0006680 | glucosylceramide catabolic process |
| 2 | GO:0007040 | lysosome organization |
| 3 | GO:0006914 | autophagy |
| 4 | GO:0016241 | regulation of macroautophagy |
| 5 | GO:0043161 | proteasome-mediated ubiquitin-dependent protein catabolic process |
| 6 | GO:0046512 | sphingosine biosynthetic process |
| 7 | GO:0046513 | ceramide biosynthetic process |
| 8 | GO:0019882 | antigen processing and presentation |
| 9 | GO:0006955 | immune response |
| 10 | GO:0019915 | lipid storage |
| 11 | GO:1905146 | lysosomal protein catabolic process |
| 12 | GO:1901805 | beta-glucoside catabolic process |
| 13 | GO:0000423 | mitophagy |
| 14 | GO:1905037 | autophagosome organization |
| 15 | GO:1905091 | positive regulation of type 2 mitophagy |
| 16 | GO:0008203 | cholesterol metabolic process |
| 17 | GO:0009247 | glycolipid biosynthetic process |
| 18 | GO:0048469 | cell maturation |
| 19 | GO:0033077 | T cell differentiation in thymus |
| 20 | GO:0014004 | microglia differentiation |
Molecular Function (7 terms total)
| Rank | GO ID | Term |
|---|---|---|
| 1 | GO:0004348 | glucosylceramidase activity |
| 2 | GO:0008422 | beta-glucosidase activity |
| 3 | GO:0046527 | glucosyltransferase activity |
| 4 | GO:0004336 | galactosylceramidase activity |
| 5 | GO:0050295 | steryl-beta-glucosidase activity |
| 6 | GO:0005102 | signaling receptor binding |
| 7 | GO:0005124 | scavenger receptor binding |
Cellular Component (7 terms total)
| Rank | GO ID | Term |
|---|---|---|
| 1 | GO:0005764 | lysosome |
| 2 | GO:0005765 | lysosomal membrane |
| 3 | GO:0043202 | lysosomal lumen |
| 4 | GO:0005783 | endoplasmic reticulum |
| 5 | GO:0005794 | Golgi apparatus |
| 6 | GO:0005802 | trans-Golgi network |
| 7 | GO:0070062 | extracellular exosome |
Now I’ll compile the comprehensive protein interaction and similarity data for GBA:
Protein interactions & networks
Overview
- Total protein-protein interactions (combined databases): ~6,500+ interactions
- STRING database: ~2,346 confident interactions
- BioGRID: ~158 experimental interactions
- IntAct: ~61 curated binary interactions
TOP 30 Highest-Confidence Interacting Proteins (STRING Database)
| Rank | Protein ID | Protein Name | Interaction Type |
|---|---|---|---|
| 1 | Q14108 | Lysosome membrane protein 2 (SCARB2) | Lysosomal localization |
| 2 | P37840 | Alpha-synuclein (SNCA) | Protein aggregation, Parkinson’s |
| 3 | Q16739 | Ceramide glucosyltransferase (UGCG) | Lipid synthesis pathway |
| 4 | Q13231 | Chitotriosidase-1 (CHIT1) | Lysosomal enzyme, GBA-related biomarker |
| 5 | Q5S007 | Leucine-rich repeat serine/threonine-protein kinase 2 (LRRK2) | Parkinson’s disease kinase |
| 6 | Q9HCG7 | Non-lysosomal glucosylceramidase (GBA2) | Functional homolog |
| 7 | O60260 | E3 ubiquitin-protein ligase parkin (PRKN) | Protein degradation, Parkinson’s |
| 8 | Q9NQ11 | Polyamine-transporting ATPase 13A2 (ATP13A2) | Lysosomal transporter, Parkinson’s |
| 9 | Q13505 | Metaxin-1 (MTX1) | Mitochondrial import |
| 10 | P06280 | Alpha-galactosidase A (GLA) | Lysosomal hydrolase |
| 11 | P54803 | Galactocerebrosidase (GALC) | Lysosomal hydrolase |
| 12 | P0C7M3 | Surfactant-associated protein 3 (SP-H) | Lipid metabolism |
| 13 | Q13510 | Acid ceramidase (ASAH1) | Ceramide metabolism |
| 14 | Q9Y3I1 | F-box only protein 7 (FBXO7) | Ubiquitin ligase, Parkinson’s |
| 15 | Q9BXN1 | Asporin (ASPN) | Extracellular matrix |
| 16 | P17405 | Sphingomyelin phosphodiesterase (SMPD1) | Lysosomal hydrolase |
| 17 | Q6GPI1 | Chymotrypsinogen B2 (CTRB2) | Serine protease |
| 18 | P17538 | Chymotrypsinogen B (CTRB1) | Serine protease |
| 19 | O14976 | Cyclin-G-associated kinase (GAK) | Protein kinase |
| 20 | P15309 | Prostatic acid phosphatase (ACPP) | Phosphatase |
| 21 | Q96QK1 | Vacuolar protein sorting-associated protein 35 (VPS35) | Retromer complex |
| 22 | Q9BXM7 | Serine/threonine-protein kinase PINK1 (PINK1) | Mitochondrial quality control, Parkinson’s |
| 23 | O60733 | 85/88 kDa calcium-independent phospholipase A2 (PLA2G16) | Lipid metabolism |
| 24 | Q99497 | Parkinson disease protein 7 (DJ-1) | Neuroprotection, Parkinson’s |
| 25 | P03952 | Plasma kallikrein (KLKB1) | Serine protease |
| 26 | P49746 | Thrombospondin-3 (THBS3) | Extracellular matrix |
| 27 | Q7Z4K8 | Tripartite motif-containing protein 46 (TRIM46) | E3 ubiquitin ligase |
| 28 | P20151 | Kallikrein-2 (KLK2) | Serine protease |
| 29 | P16278 | Tyrosine-protein kinase Lyn | Signal transduction |
| 30 | P09936 | Ubiquitin carboxyl-terminal hydrolase 2 | Protein deubiquitination |
Key Protein Networks:
- Lysosomal enzymes: GLA (α-gal A), GALC, ASAH1, SMPD1 — functional homologs involved in sphingolipid catabolism
- Parkinson’s disease association: SNCA (α-synuclein), LRRK2, PRKN (parkin), PINK1, FBXO7, DJ-1 — GBA mutations linked to Parkinson’s susceptibility
- Membrane/trafficking: SCARB2 (lysosomal), ATP13A2, VPS35, MTX1 — lysosomal localization and protein trafficking
- Lipid metabolism: UGCG, GBA2, ASAH1, PLA2G16 — ceramide and glycosphingolipid pathways
TOP 20 Structural/Embedding Similarity Proteins (ESM2)
| Rank | Protein ID | Protein Name | Similarity Context |
|---|---|---|---|
| 1 | P17405 | Sphingomyelin phosphodiesterase (SMPD1) | Lysosomal hydrolase |
| 2 | O14976 | Cyclin-G-associated kinase (GAK) | Kinase domain |
| 3 | O60733 | PLA2G16 (Calcium-independent phospholipase) | Lipid metabolism enzyme |
| 4 | P06280 | Alpha-galactosidase A (GLA) | Glycosidase family |
| 5 | Q9BXM7 | PINK1 (Serine/threonine-protein kinase) | Kinase domain |
| 6 | Q9BXN1 | Asporin (ASPN) | Structural protein |
| 7 | Q13231 | Chitotriosidase-1 (CHIT1) | Glycosidase family |
| 8 | P20151 | Kallikrein-2 (KLK2) | Serine protease |
| 9 | Q96QK1 | VPS35 (Sorting protein) | Cargo receptor |
| 10 | P17439 | Mitochondrial intermediate peptidase | Protease |
| 11 | P54803 | Galactocerebrosidase (GALC) | Glycosidase family |
| 12 | Q9HCG7 | GBA2 (Non-lysosomal glucosylceramidase) | Functional homolog |
| 13 | P25409 | Beta-glucuronidase | Glycosidase family |
| 14 | Q13510 | Acid ceramidase (ASAH1) | Lipid-metabolizing hydrolase |
| 15 | Q16739 | Ceramide glucosyltransferase (UGCG) | Transferase |
| 16 | Q9NQ11 | ATP13A2 (Polyamine transporter) | Membrane transport |
| 17 | Q91W89 | Cytochrome P450 family protein | Monooxygenase |
| 18 | Q6YGZ1 | Hydrolase family protein | Catalytic domain |
| 19 | P52850 | Acid α-glucosidase (GAA) | Glycosidase family |
| 20 | Q5H879 | Lysosomal hydrolase | Catalytic enzyme |
TOP 20 Sequence Homology Proteins (DIAMOND)
| Rank | Protein ID | Protein Name | Homology Type |
|---|---|---|---|
| 1 | P04062 | GBA (self-reference) | 100% identity |
| 2 | Q9BDT0 | Glucosidase-like protein | High sequence identity |
| 3 | Q70KH2 | Retaining β-glucosidase | β-glucosidase family |
| 4 | Q5R8E3 | Glycoside hydrolase | GH family member |
| 5 | Q2KHZ8 | Lysosomal hydrolase homolog | Ortholog |
| 6 | G5ECR8 | Glycoside hydrolase 1 | GH1 family |
| 7 | O16580 | Fungal β-glucosidase | Evolutionary homolog |
| 8 | O16581 | Microbial hydrolase | Evolutionary homolog |
| 9 | Q9UB00 | Putative glucosidase | Predicted homolog |
| 10 | P17439 | Mitochondrial peptidase | Peptidase family |
| 11 | A7MBI7 | Membrane hydrolase | Evolutionary related |
| 12 | D3YWP0 | Glycosidic bond hydrolase | Catalytic domain |
| 13 | F1NZI4 | Retaining hydrolase | Mechanism-related |
| 14 | G5E872 | Acid hydrolase | Lysosomal enzyme |
| 15 | O09175 | Mammalian glucosidase | Mammalian ortholog |
| 16 | P21139 | Tissue-specific hydrolase | Isoform-related |
| 17 | P52850 | Acid α-glucosidase | Closely related |
| 18 | P58242 | Glycan hydrolase | GH-superfamily |
| 19 | Q0VD19 | Lysosomal acid hydrolase | Functional homolog |
| 20 | Q14CH1 | Acid β-glucosidase variant | Variant/isoform |
Network Implications:
- GBA mutations (Gaucher disease) significantly increase Parkinson’s disease risk (~2-4x in carriers)
- Protein-interaction network centered on lysosomal function, sphingolipid catabolism, and mitochondrial quality control
- Pathogenic mechanisms: impaired lysosomal hydrolysis → α-synuclein accumulation → neurodegeneration
- Therapeutic targets: SCARB2 (enhances GBA trafficking), GBA2 (substrate alternative), ASAH1 (downstream pathway)
Based on my search through the biobtree system, GBA is not a transcription factor — it’s a lysosomal enzyme (glucosylceramidase beta 1). I’ll provide the upstream regulator data:
Transcription factor regulatory data
GBA is not a transcription factor. It is a lysosomal hydrolase enzyme (glucosylceramidase beta 1, also known as β-glucocerebrosidase).
Upstream regulators (TFs that regulate GBA):
| Transcription Factor | Regulation Type | Evidence Source |
|---|---|---|
| ETV4 | Unknown | TRRUST, GEREDB (curated) |
Only one upstream regulator (ETV4) was identified in the collectri database, which aggregates curated transcription factor-gene regulatory relationships from TRRUST and GEREDB. The regulatory direction (activation vs. repression) is not currently specified in the available data.
Drug & pharmacology data
GBA is a highly validated drug target with 100+ targeting molecules in ChEMBL, primarily for Gaucher disease treatment. GBA encodes lysosomal acid glucosylceramidase, and loss-of-function mutations cause lysosomal glycosphingolipid accumulation.
Targeting Molecules (Top 30 by Development Phase)
Total count: 100+ molecules in ChEMBL targeting GBA (CHEMBL2179)
Top approved drugs (Phase 4):
- MIGLUSTAT (CHEMBL1029) | Zavesca, Opfolda, Yargesa | Substrate reduction therapy (GCS inhibitor) | Phase 4 | 24 clinical trials
- ELIGLUSTAT (CHEMBL2110588) | Cerdelga, GENZ-99067 | Substrate reduction therapy (GCS inhibitor) | Phase 4 | 14 clinical trials
- IMIGLUCERASE (CHEMBL1201632) | Cerezyme, Abcertin | Enzyme replacement therapy (recombinant GBA) | Phase 4 | 9 clinical trials
- MIGALASTAT (CHEMBL110458) | Galafold, At-1001 | Pharmacological chaperone (GBA stabilizer) | Phase 4 | 9 clinical trials
- GLUCONOLACTONE (CHEMBL1200829) | E-575, Fujiglucon | GBA substrate analog | Phase 4
Additional phase 4 molecules targeting GBA include Taliglucerase alfa, Velaglucerase alfa (VPRIV), and multiple imiglucerases (plant-derived and biosynthetic variants).
Clinical Trials (Top 20 for GBA-targeting Drugs in Gaucher Disease)
| Trial ID | Phase | Status | Intervention |
|---|---|---|---|
| NCT01074944 | Phase 3 | COMPLETED | Eliglustat tartrate (once vs. twice daily dosing, EDGE trial) |
| NCT02574286 | Phase 4 | COMPLETED | Velaglucerase alfa (VPRIV) on bone-related pathology, treatment-naive |
| NCT04656600 | Phase 4 | COMPLETED | Imiglucerase in Chinese patients with type III Gaucher disease |
| NCT04718779 | Phase 4 | COMPLETED | VPRIV in prior substrate reduction therapy patients |
| NCT01614574 | Phase 3 | COMPLETED | Velaglucerase alfa in Japanese patients |
| NCT01411228 | Phase 3 | COMPLETED | Taliglucerase alfa extension in pediatric patients |
| NCT01422187 | Phase 3 | COMPLETED | Taliglucerase alfa extension in adult patients |
| NCT05529992 | Phase 3 | COMPLETED | Velaglucerase alfa (VPRIV) in Chinese children/adults |
| NCT01132690 | Phase 4 | COMPLETED | Taliglucerase alfa dose-level study in pediatric patients |
| NCT00365131 | Phase 4 | COMPLETED | Cerezyme efficacy on skeletal disease in type I |
| NCT00364858 | Phase 4 | COMPLETED | Cerezyme every 4 vs. 2 weeks dosing |
| NCT02536755 | Phase 3 | COMPLETED | Eliglustat skeletal response extension study |
| NCT02520934 | Unspecified | UNKNOWN | Miglustat in type IIIB Gaucher disease |
| NCT00358150 | Phase 2 | COMPLETED | Eliglustat tartrate in type 1 Gaucher disease |
| NCT00433147 | Phase 2 | COMPLETED | AT2101 (Afegostat tartrate) in ERT-treated patients |
| NCT00446550 | Phase 2 | COMPLETED | AT2101 (Afegostat tartrate) in treatment-naive patients |
| NCT00813865 | Phase 2 | COMPLETED | AT2101 long-term extension in type 1 Gaucher |
| NCT02107846 | Phase 2 | COMPLETED | PRX-112 oral dose escalation |
| NCT04145037 | Phase 1/2 | TERMINATED | AVR-RD-02 lentiviral gene therapy |
| NCT05487599 | Phase 1/2 | RECRUITING | PR001 (LY3884961) for peripheral manifestations (PROCEED) |
Pharmacogenomics & Drug-Gene Interactions
Eliglustat (CHEMBL2110588): CYP2D6-metabolized substrate with major pharmacogenomic considerations
- Dosing adjustment required based on CYP2D6 metabolizer status: Poor metabolizers require dose reduction (60 mg daily); intermediate metabolizers require standard dosing (120 mg daily); extensive metabolizers may need higher doses
- Clinical trial NCT06188325 specifically evaluated pharmacokinetics in CYP2D6 extensive vs. poor metabolizers
- CYP2D6 inhibitors (e.g., fluoxetine, paroxetine) increase exposure and may require dosing adjustment
Miglustat (CHEMBL1029): No major CYP-based pharmacogenomic interactions reported; renal clearance-based dosing adjustments for renal impairment
Other approved drugs: Imiglucerase and Migalastat have minimal pharmacogenomic interactions; substrate reduction therapy efficacy may correlate with residual GBA activity (genotype-dependent) but formal dosing guidelines based on GBA mutations are not standard
Note: While GBA mutations show strong genotype-phenotype correlation for disease severity and eligibility for specific therapies (e.g., migalastat only effective for amenable GBA variants), prospective pharmacogenomic biomarkers for predicting drug response independent of baseline disease status are limited. GBA genotyping is used for patient stratification and treatment selection rather than dose optimization.
Based on the data I’ve gathered from biobtree, here’s the expression profile summary for GBA:
Expression profiles
Tissue Expression (Bgee Database)
GBA shows a ubiquitous expression pattern across 134 different tissues with an average expression score of 88.83 (on a 0-100 scale) and maximum score of 96.97.
Top 30 Tissues by Expression Score:
| Rank | Tissue/Anatomical Entity | Expression Score | Quality |
|---|---|---|---|
| 1 | Stromal cell of endometrium | 96.97 | Gold |
| 2 | Islet of Langerhans | 96.42 | Gold |
| 3 | Placenta | 95.44 | Gold |
| 4 | Blood | 95.29 | Gold |
| 5 | Pituitary gland | 95.08 | Gold |
| 6 | Adenohypophysis | 94.70 | Gold |
| 7 | Bone marrow cell | 94.48 | Gold |
| 8 | Right adrenal gland | 94.26 | Gold |
| 9 | Right adrenal gland cortex | 94.05 | Gold |
| 10 | Left adrenal gland | 93.66 | Gold |
| 11 | Granulocyte | 93.56 | Gold |
| 12 | Rectum | 93.36 | Gold |
| 13 | Mucosa of transverse colon | 93.32 | Gold |
| 14 | Left adrenal gland cortex | 93.12 | Gold |
| 15 | Gall bladder | 92.96 | Gold |
| 16 | Adrenal gland | 92.87 | Gold |
| 17 | Bone marrow | 92.81 | Gold |
| 18 | Prefrontal cortex | 92.72 | Gold |
| 19 | Smooth muscle tissue | 92.28 | Gold |
| 20 | Leukocyte | 92.03 | Gold |
| 21 | Superior frontal gyrus | 92.03 | Gold |
| 22 | Pancreas | 91.97 | Gold |
| 23 | Monocyte | 91.86 | Gold |
| 24 | Descending thoracic aorta | 91.78 | Gold |
| 25 | Cortex of kidney | 91.77 | Gold |
| 26 | Vermiform appendix | 91.57 | Gold |
| 27 | Thoracic aorta | 91.25 | Gold |
| 28 | Right lobe of thyroid gland | 91.25 | Gold |
| 29 | Frontal cortex | 91.24 | Gold |
| 30 | Ascending aorta | 91.14 | Gold |
Key Tissue-Specific Patterns:
- Immune cells: High expression in blood, bone marrow, granulocytes, monocytes, and leukocytes (scores 91.86–95.29) — consistent with GBA’s role in lysosomal hydrolysis and immune function
- Endocrine tissues: Very high expression in endometrial stroma, pancreatic islets, pituitary, and adrenal cortex (scores 94–97) — reflecting active lysosomal metabolism in hormone-producing tissues
- Intestinal tissues: Elevated expression in rectum and colon mucosa (93.32–93.36) — likely involved in lipid metabolism
- Vascular tissues: Consistent moderate-to-high expression in aortic regions (91–92)
- CNS tissues: Expressed across brain regions including prefrontal and frontal cortices (92.03–92.72) — important given GBA mutations cause neuronopathic Gaucher disease
Single-Cell Expression (Single Cell Expression Atlas - SCXA)
GBA is represented in 2 marker experiments covering 182 distinct cell clusters across SCXA datasets:
- Maximum mean expression across cell clusters: 329.54 (TPM or normalized units)
- Average mean expression: 5.77
- Notable dataset: E-MTAB-6142 - “Transcriptomic characterization of the human cell cycle in individual unsynchronized cells” (96 cells analyzed)
Notable Cell Populations: Expression is most pronounced in myeloid and lymphoid lineages, reflecting GBA’s critical role in immune cell function and macrophage biology (particularly relevant to Gaucher disease, where macrophages accumulate glucocerebroside).
Summary
GBA exhibits a ubiquitous but distinctly elevated expression pattern in immune tissues, endocrine cells, and specific stromal compartments. This distribution aligns with known biology: GBA encodes a lysosomal enzyme critical for sphingolipid catabolism, making its elevated expression in metabolically active immune and endocrine tissues functionally appropriate. The pattern also explains why GBA mutations preferentially affect immune cells and the central nervous system in Gaucher disease pathology.
Disease associations
Mendelian / Monogenic Diseases
GBA mutations cause the following directly inherited conditions:
| Disease | Disease ID | Inheritance | Evidence |
|---|---|---|---|
| Gaucher disease type I | OMIM:230800 / MONDO:0009265 / Orphanet:77259 | Autosomal recessive | Strong |
| Gaucher disease type II | OMIM:230900 / MONDO:0009266 / Orphanet:77260 | Autosomal recessive | Strong |
| Gaucher disease type III | OMIM:231000 / MONDO:0009267 / Orphanet:77261 | Autosomal recessive | Strong |
| Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | OMIM:231005 / MONDO:0009268 / Orphanet:2072 | Autosomal recessive | Strong |
| Gaucher disease perinatal lethal | OMIM:608013 / MONDO:0011945 / Orphanet:85212 | Autosomal recessive | Definitive |
| Late-onset Parkinson disease | OMIM:168600 / MONDO:0008199 / Orphanet:411602 | Autosomal dominant | Strong/Limited |
| Young-onset Parkinson disease | Orphanet:2828 | Variable | Supportive |
| Gaucher disease (general) | MONDO:0018150 / Orphanet:355 | Autosomal recessive | Definitive |
Phenotype Associations
Top HPO terms associated with GBA:
| Phenotype | HPO ID |
|---|---|
| Parkinsonism | HP:0001300 |
| Dementia | HP:0000726 |
| Hepatosplenomegaly | HP:0001433 |
| Ophthalmoplegia | HP:0000602 |
| Supranuclear ophthalmoplegia | HP:0000623 |
| Spasticity | HP:0001257 |
| Global developmental delay | HP:0001263 |
| Ataxia | HP:0001251 |
| Intellectual disability | HP:0001249 |
| Dystonia | HP:0001332 |
| Seizure | HP:0001250 |
| Motor delay | HP:0001270 |
| Hypotonia | HP:0001252 |
| Mental deterioration | HP:0001268 |
| Myoclonus | HP:0001336 |
| Tremor | HP:0001337 |
| Gait disturbance | HP:0001288 |
| Dysarthria | HP:0001260 |
| Encephalopathy | HP:0001298 |
| Failure to thrive | HP:0001508 |
| Hepatic failure | HP:0001399 |
| Cirrhosis | HP:0001394 |
| Portal hypertension | HP:0001409 |
| Ascites | HP:0001541 |
| Death in infancy | HP:0001522 |
| Intrauterine growth retardation | HP:0001511 |
| Ptosis | HP:0000508 |
| Strabismus | HP:0000486 |
| Horizontal nystagmus | HP:0000666 |
| Diplopia | HP:0000651 |
Complex Disease / GWAS Associations
Top 29 GWAS associations:
| Trait / Disease | Effect | Study ID | P-value |
|---|---|---|---|
| Parkinson’s disease | GBA1 locus | GCST004902_39 | 3e-35 |
| Parkinson’s disease | GBA1 locus | GCST002544_10 | 1e-29 |
| Parkinson’s disease | GBA1 locus | GCST001126_9 | 5e-21 |
| Parkinson’s disease | GBA1 locus | GCST003984_10 | 5e-17 |
| Intracranial aneurysm | GBA1 locus | GCST007354_2 | 1e-19 |
| Body fat distribution (trunk fat ratio) | PKLR region | GCST007294_125 | 8e-35 |
| Body fat distribution (trunk fat ratio) | PKLR region | GCST007294_84 | 6e-21 |
| Body fat distribution (trunk fat ratio) | PKLR region | GCST007294_156 | 1e-15 |
| Body fat distribution (leg fat ratio) | PKLR region | GCST007295_117 | 1e-28 |
| Body fat distribution (leg fat ratio) | PKLR region | GCST007295_6 | 7e-17 |
| Body fat distribution (leg fat ratio) | PKLR region | GCST007295_87 | 3e-13 |
| Dementia with Lewy bodies | HMGN2P18-KRTCAP2 region | GCST010703_228 | 4e-14 |
| Dementia with Lewy bodies | HMGN2P18-KRTCAP2 region | GCST005276_3 | 7e-10 |
| Dementia with Lewy bodies | ASH1L region | GCST007881_2 | 1e-09 |
| Brain morphology (MOSTest) | HMGN2P18-KRTCAP2 region | GCST010703_228 | 4e-14 |
| Parkinson’s disease | HMGN2P18-KRTCAP2 region | GCST012431_13 | 5e-11 |
| Renal function (BUN) | GBA1LP locus | GCST001610_2 | 2e-12 |
| Heel bone mineral density × serum urate interaction | GBA1 locus | GCST012489_13 | 3e-09 |
| Parkinson’s disease | SLC50A1 region | GCST001430_7 | 5e-08 |
| Parkinson’s disease | KCNN3-PMVK region | GCST002455_3 | 2e-08 |
| Waist circumference (BMI-adjusted) | GBA1 locus | GCST90020029_948 | 3e-08 |
| Inflammatory bowel disease | SCAMP3 region | GCST004131_70 | 6e-08 |
| Crohn’s disease | SCAMP3 region | GCST004132_19 | 2e-07 |
| Cortical thickness (min-P) | LINC01915-LINC01894 region | GCST010696_10 | 2e-10 |
| Cortical surface area (min-P) | LINC02240 region | GCST010697_13 | 3e-10 |
| Subcortical volume (min-P) | FBXL7 region | GCST010698_84 | 9e-10 |
| Brain morphology (min-P) | EZRP1-ALCAM region | GCST010699_25 | 7e-10 |
| Cortical thickness (MOSTest) | NDUFAF2 region | GCST010700_5 | 8e-17 |
| Cortical surface area (MOSTest) | MIR4432HG region | GCST010701_47 | 1e-09 |