FGFR1 Gene Complete Identifier and Functional Mapping Reference
Provide a comprehensive cross-database identifier and functional mapping reference for human FGFR1 — a definitive lookup resource covering: ### Section 1: Gene identifiers For human gene FGFR1, 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 FGFR1, 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 FGFR1 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 FGFR1 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 FGFR1, 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 FGFR1, 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 FGFR1, 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 FGFR1 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 FGFR1, summarize transcription factor regulatory data. If FGFR1 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 FGFR1 — names with evidence type (ChIP-seq / predicted / experimentally validated) If FGFR1 is not a transcription factor, say so briefly and skip the downstream/motif sections. ### Section 10: Drug & pharmacology data For human gene FGFR1 protein as a drug target, summarize pharmacology data. If FGFR1 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 FGFR1 is not currently a drug target, say so briefly. ### Section 11: Expression profiles For human gene FGFR1, 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 FGFR1, summarize disease associations. Mendelian / monogenic disease: - Diseases caused by mutations in FGFR1: 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
FGFR1 (fibroblast growth factor receptor 1; HGNC:3688) is a receptor tyrosine kinase on chromosome 8 that transduces FGF signals into core intracellular cascades — PI3K/AKT, RAS/ERK-MAPK, and PLC-γ1 — making it a central regulator of embryonic development, angiogenesis, skeletal morphogenesis, and neurogenesis. Four key facts stand out for researchers: first, the gene is expressed in virtually every human tissue (present calls in 292 of 294 conditions, Bgee), with particularly high scores in vascular, cerebellar, and reproductive tissues. Second, it is a well-validated oncology drug target with 4,055 molecules in ChEMBL and approved therapies including sorafenib and infigratinib. Third, Mendelian mutations cause a spectrum of definitive disorders — notably Pfeiffer syndrome (craniosynostosis) and hypogonadotropic hypogonadism 2 / Kallmann syndrome — while GWAS signals link the locus to birth weight, PR interval, type 2 diabetes, and psychiatric conditions. Fourth, AlphaMissense flags ~100 missense variants as likely pathogenic, clustering around residues L754, D755, Y766, and F796 in the kinase domain.
FGFR1 — Reference
Cross-database identifier and functional mapping reference for FGFR1.
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:3688 |
| Approved symbol | FGFR1 |
| Ensembl gene ID | ENSG00000077782 |
| Entrez Gene ID | 2260 |
| OMIM gene ID | 136350 |
| Chromosome (GRCh38) | 8 |
| Start position (GRCh38) | 38,400,215 |
| End position (GRCh38) | 38,468,834 |
| Strand (GRCh38) | − (minus) |
Transcript identifiers
Ensembl Transcripts (ENST)
Total: 73 transcripts
| Biotype | Count | Transcript IDs |
|---|---|---|
| protein_coding | 38 | ENST00000326324, ENST00000335922, ENST00000341462, ENST00000356207, ENST00000397091, ENST00000397103, ENST00000397108, ENST00000397113, ENST00000413133, ENST00000425967, ENST00000434187, ENST00000440174, ENST00000447712, ENST00000525001, ENST00000526742, ENST00000529552, ENST00000530568, ENST00000532791, ENST00000533668, ENST00000683765, ENST00000683815, ENST00000684654, ENST00000703405, ENST00000857933, ENST00000857934, ENST00000857935, ENST00000857936, ENST00000857937, ENST00000857938, ENST00000857939, ENST00000857940, ENST00000934569, ENST00000934570, ENST00000934571, ENST00000934572, ENST00000934573, ENST00000965843, ENST00000965844 |
| retained_intron | 21 | ENST00000397090, ENST00000464163, ENST00000466021, ENST00000470826, ENST00000474970, ENST00000475621, ENST00000496296, ENST00000524528, ENST00000526570, ENST00000527114, ENST00000527745, ENST00000532386, ENST00000533619, ENST00000674217, ENST00000674474, ENST00000682398, ENST00000682770, ENST00000683132, ENST00000683276, ENST00000683795, ENST00000683948 |
| nonsense_mediated_decay | 8 | ENST00000484370, ENST00000487647, ENST00000531196, ENST00000619564, ENST00000649678, ENST00000674189, ENST00000674235, ENST00000674380 |
| protein_coding_CDS_not_defined | 6 | ENST00000480571, ENST00000496629, ENST00000526688, ENST00000527203, ENST00000530701, ENST00000533301 |
RefSeq mRNA Transcripts (NM_)
Total: 20 mRNA accessions
| Accession | MANE Select |
|---|---|
| NM_001079908 | No |
| NM_001079909 | No |
| NM_001174063 | No |
| NM_001174064 | No |
| NM_001174065 | No |
| NM_001174066 | No |
| NM_001174067 | No |
| NM_001354367 | No |
| NM_001354368 | No |
| NM_001354369 | No |
| NM_001354370 | No |
| NM_001393766 | No |
| NM_001410922 | No |
| NM_010206 | No |
| NM_015850 | No |
| NM_023105 | No |
| NM_023106 | No |
| NM_023110 | Yes |
| NM_024146 | No |
CCDS Identifiers
Total: 9 CCDS IDs
- CCDS6107
- CCDS43730
- CCDS43731
- CCDS43732
- CCDS55221
- CCDS55222
- CCDS94283
- CCDS94284
- CCDS94285
MANE Select/Canonical Transcript Exons
Transcript: ENST00000447712 (NM_023110)
Total exons: 18
| Exon ID | Genomic Start | Genomic End | Strand |
|---|---|---|---|
| ENSE00001316315 | 38,429,682 | 38,429,948 | - |
| ENSE00001630314 | 38,411,143 | 38,413,804 | - |
| ENSE00001911865 | 38,467,981 | 38,468,635 | - |
| ENSE00003489763 | 38,418,228 | 38,418,373 | - |
| ENSE00003501167 | 38,424,509 | 38,424,699 | - |
| ENSE00003510418 | 38,421,797 | 38,421,941 | - |
| ENSE00003523010 | 38,415,870 | 38,416,060 | - |
| ENSE00003528389 | 38,419,533 | 38,419,735 | - |
| ENSE00003551643 | 38,428,346 | 38,428,435 | - |
| ENSE00003576378 | 38,414,779 | 38,414,901 | - |
| ENSE00003597475 | 38,414,559 | 38,414,629 | - |
| ENSE00003610788 | 38,457,356 | 38,457,534 | - |
| ENSE00003611337 | 38,413,918 | 38,414,023 | - |
| ENSE00003614250 | 38,427,921 | 38,428,093 | - |
| ENSE00003614946 | 38,417,870 | 38,417,991 | - |
| ENSE00003644071 | 38,417,306 | 38,417,416 | - |
| ENSE00003680911 | 38,414,152 | 38,414,289 | - |
| ENSE00003683948 | 38,426,122 | 38,426,245 | - |
Protein identifiers
UniProt accessions
- P11362 (reviewed, canonical) — Fibroblast growth factor receptor 1, Homo sapiens, 822 aa
RefSeq protein (NP_ accessions)
Canonical (MANE SELECT):
- NP_075598 — from NM_023110.3
Additional human isoforms:
- NP_075593 — from NM_023105
- NP_075594 — from NM_023106
- NP_056934 — from NM_015850
- NP_001167534 — from NM_001174063
- NP_001167535 — from NM_001174064
- NP_001167536 — from NM_001174065
- NP_001167537 — from NM_001174066
- NP_001167538 — from NM_001174067
- NP_001341296 — from NM_001354367
- NP_001341297 — from NM_001354368
- NP_001341298 — from NM_001354369
- NP_001341299 — from NM_001354370
- NP_001397851 — from NM_001410922
Protein domains and families
InterPro domains (16 total):
| ID | Name | Type |
|---|---|---|
| IPR000719 | Protein kinase domain | Domain |
| IPR001245 | Ser-Thr/Tyr kinase catalytic domain | Domain |
| IPR003598 | Ig sub2 | Domain |
| IPR003599 | Ig sub | Domain |
| IPR007110 | Ig-like domain | Domain |
| IPR008266 | Tyrosine kinase active site | Active site |
| IPR011009 | Kinase-like domain superfamily | Homologous superfamily |
| IPR013098 | Ig I-set | Domain |
| IPR013151 | Immunoglobulin-like beta-sandwich domain | Domain |
| IPR013783 | Ig-like fold | Homologous superfamily |
| IPR016248 | Fibroblast growth factor receptor family | Family |
| IPR017441 | Protein kinase ATP binding site | Binding site |
| IPR020635 | Tyrosine kinase catalytic domain | Domain |
| IPR028174 | Fibroblast growth factor receptor 1, catalytic domain | Domain |
| IPR036179 | Ig-like domain superfamily | Homologous superfamily |
| IPR050122 | Receptor Tyrosine Kinase | Family |
Pfam domains (3 total):
- PF00047
- PF07679
- PF07714
Antibody availability
No antibody entries found in biobtree for FGFR1 (chain »uniprot»antibody yielded no results).
Structure
Experimental Structures: 81 PDB Entries
X-ray Diffraction (77 structures)
| PDB ID | Resolution (Å) |
|---|---|
| 1AGW | 2.4 |
| 1CVS | 2.8 |
| 1EVT | 2.8 |
| 1FGI | 2.5 |
| 1FGK | 2.0 |
| 1FQ9 | 3.0 |
| 2FGI | 2.5 |
| 3C4F | 2.07 |
| 3DPK | 1.95 |
| 3GQI | 2.5 |
| 3GQL | 2.8 |
| 3JS2 | 2.2 |
| 3KRJ | 2.1 |
| 3KRL | 2.4 |
| 3KXX | 3.2 |
| 3KY2 | 2.7 |
| 3OJV | 2.6 |
| 3RHX | 2.01 |
| 3TT0 | 2.8 |
| 4F63 | 2.55 |
| 4F64 | 2.05 |
| 4F65 | 2.26 |
| 4NK9 | 2.57 |
| 4NKA | 2.19 |
| 4NKS | 2.5 |
| 4RWI | 2.292 |
| 4RWJ | 2.489 |
| 4RWK | 2.982 |
| 4RWL | 2.193 |
| 4UWB | 2.31 |
| 4UWC | 1.96 |
| 4UWY | 2.305 |
| 4V01 | 2.33 |
| 4V04 | 2.12 |
| 4V05 | 2.57 |
| 4WUN | 1.65 |
| 4ZSA | 2.0 |
| 5A46 | 2.63 |
| 5A4C | 2.09 |
| 5AM6 | 1.96 |
| 5AM7 | 1.957 |
| 5B7V | 2.15 |
| 5EW8 | 1.63 |
| 5FLF | 2.58 |
| 5O49 | 1.91 |
| 5O4A | 2.01 |
| 5UQ0 | 2.3 |
| 5UR1 | 2.2 |
| 5VND | 2.2 |
| 5W21 | 3.0 |
| 5W59 | 2.498 |
| 5Z0S | 2.45 |
| 5ZV2 | 2.86 |
| 6C18 | 2.3 |
| 6C19 | 2.12 |
| 6C1B | 2.0 |
| 6C1C | 2.15 |
| 6C1O | 2.29 |
| 6ITJ | 1.994 |
| 6MZQ | 2.0 |
| 6MZW | 2.2 |
| 6NVL | 2.7 |
| 6P68 | 2.9 |
| 6P69 | 2.2 |
| 7OZB | 1.71 |
| 7OZD | 1.82 |
| 7OZF | 1.82 |
| 7TNH | 2.7 |
| 7WCL | 2.495 |
| 8JMZ | 1.988 |
| 8XLO | 2.36 |
| 8XZ7 | 1.75 |
| 8Y22 | 2.792 |
| 8YKI | 2.79 |
| 9CD5 | 2.939 |
| 9UHC | 1.88 |
| 9UHI | 1.76 |
NMR Spectroscopy (2 structures)
- 1XR0
- 2CR3
Cryo-EM (2 structures)
- 7YSH (2.74 Å)
- 8JQI (4.1 Å)
Total Experimental Structures: 81
Predicted Structures
AlphaFold Database
- Model ID: AF-P11362-F1
- Global pLDDT: 74.30
- Residues with high confidence (pLDDT ≥ 90): 34%
Cross-species orthologs
| Organism | Gene ID | Symbol |
|---|---|---|
| Mouse (Mus musculus) | 14182 | Fgfr1 |
| Rat (Rattus norvegicus) | 79114 | Fgfr1 |
| Zebrafish (Danio rerio) | 30705 | fgfr1a |
| Fruit fly (Drosophila melanogaster) | 39564 | btl |
| Worm (C. elegans) | 181291 | egl-15 |
| Yeast (S. cerevisiae) | none | none |
Clinical variants & AI predictions
ClinVar variants
Summary: ~1,366 total variants | Classification breakdown (first 100): Benign/Likely benign: ~45% | Uncertain significance: ~20% | Conflicting classifications: ~8% | Likely pathogenic: ~2% | Pathogenic: ~3%
TOP pathogenic/likely pathogenic variants (30):
| ClinVar ID | HGVS notation | Classification | Associated condition |
|---|---|---|---|
| 1074220 | NM_023110.3(FGFR1):c.979_983del (p.His327fs) | Pathogenic | — |
| 1184446 | NM_023110.3(FGFR1):c.2122G>T (p.Glu708Ter) | Pathogenic | — |
| 1208776 | NM_023110.3(FGFR1):c.962_963del (p.Lys321fs) | Pathogenic | — |
| 1065343 | NM_023110.3(FGFR1):c.745+2T>A | Likely pathogenic | — |
| 1212943 | NM_023110.3(FGFR1):c.1936C>T (p.Arg646Trp) | Likely pathogenic | Not provided |
AI-based predictions
Splice effects (SpliceAI): ~5,160 total variants
TOP 30 splice variants (highest delta scores):
| Variant | Effect type | Delta score | Gene(s) |
|---|---|---|---|
| 1:152314746:TT:T | acceptor_gain | 0.99 | FLG, CCDST |
| 1:152314750:G:GC | acceptor_gain | 0.96 | FLG, CCDST |
| 1:152314748:C:CC | acceptor_gain | 0.98 | FLG, CCDST |
| 1:152314750:G:C | acceptor_gain | 0.98 | FLG, CCDST |
| 1:152314753:C:CT | acceptor_gain | 0.98 | FLG, CCDST |
| 1:152314776:C:CC | acceptor_gain | 0.98 | FLG, CCDST |
| 1:152314754:A:T | acceptor_gain | 0.98 | FLG, CCDST |
| 1:152314745:ATTCT:A | acceptor_loss | 0.98 | FLG, CCDST |
| 1:152314747:TC:T | acceptor_loss | 0.98 | FLG, CCDST |
| 1:152314748:C:T | acceptor_loss | 0.98 | FLG, CCDST |
| 1:152314743:GGATT:G | acceptor_gain | 0.93 | FLG, CCDST |
| 1:152314744:GATT:G | acceptor_gain | 0.93 | FLG, CCDST |
| 1:152314745:ATTC:A | acceptor_gain | 0.94 | FLG, CCDST |
| 1:152314746:TTCT:T | acceptor_gain | 0.94 | FLG, CCDST |
| 1:152314747:TCTG:T | acceptor_gain | 0.94 | FLG, CCDST |
| 1:152314748:C:A | acceptor_gain | 0.92 | FLG, CCDST |
| 1:152314749:T:A | acceptor_gain | 0.91 | FLG, CCDST |
| 1:152314744:GC | acceptor_gain | 0.96 | FLG, CCDST |
| 1:152314743:GGA:G | acceptor_gain | 0.55 | FLG, CCDST |
| 1:152314742:TGGAT:T | acceptor_gain | 0.52 | FLG, CCDST |
| 1:152314741:CTGGA:C | acceptor_gain | 0.52 | FLG, CCDST |
| 1:152314779:C:CA | acceptor_gain | 0.53 | FLG, CCDST |
| 1:152314782:C:CT | acceptor_gain | 0.78 | FLG, CCDST |
| 1:152314745:ATT:A | acceptor_gain | 0.83 | FLG, CCDST |
| 1:152314780:ATC:A | acceptor_gain | 0.70 | FLG, CCDST |
| 1:152314781:T:A | acceptor_gain | 0.71 | FLG, CCDST |
| 1:152314775:A:AC | acceptor_gain | 0.71 | FLG, CCDST |
| 1:152314749:T:TC | acceptor_gain | 0.70 | FLG, CCDST |
| 1:152314755:G:GC | acceptor_gain | 0.66 | FLG, CCDST |
| 1:152314774:GA:G | acceptor_gain | 0.64 | FLG, CCDST |
AlphaMissense pathogenicity: 5,386+ total variants | Likely pathogenic: ~100 variants
TOP 30 likely-pathogenic variants (highest am_pathogenicity scores):
| Protein variant | am_pathogenicity score | am_class |
|---|---|---|
| L754P | 0.999 | likely_pathogenic |
| F796L | 0.996 | likely_pathogenic |
| R756P | 0.996 | likely_pathogenic |
| D755V | 0.975 | likely_pathogenic |
| F796C | 0.974 | likely_pathogenic |
| L754Q | 0.973 | likely_pathogenic |
| F796S | 0.979 | likely_pathogenic |
| Y766H | 0.985 | likely_pathogenic |
| D755H | 0.946 | likely_pathogenic |
| Y766D | 0.974 | likely_pathogenic |
| D755A | 0.944 | likely_pathogenic |
| D793H | 0.980 | likely_pathogenic |
| L767P | 0.934 | likely_pathogenic |
| Y766C | 0.963 | likely_pathogenic |
| F796V | 0.963 | likely_pathogenic |
| F796I | 0.962 | likely_pathogenic |
| D793V | 0.960 | likely_pathogenic |
| L769Q | 0.963 | likely_pathogenic |
| L791P | 0.953 | likely_pathogenic |
| V795D | 0.956 | likely_pathogenic |
| Y766S | 0.972 | likely_pathogenic |
| L769R | 0.951 | likely_pathogenic |
| D793G | 0.902 | likely_pathogenic |
| S794F | 0.954 | likely_pathogenic |
| D793N | 0.837 | likely_pathogenic |
| V795A | 0.846 | likely_pathogenic |
| V795L | 0.804 | likely_pathogenic |
| L754V | 0.566 | likely_pathogenic |
| D755N | 0.666 | likely_pathogenic |
| D753H | 0.901 | likely_pathogenic |
Pathways & Gene Ontology
Reactome Pathways (22 total)
| Pathway ID | Pathway Name | Disease |
|---|---|---|
| R-HSA-1839122 | Signaling by activated point mutants of FGFR1 | Yes |
| R-HSA-5655302 | Signaling by FGFR1 in disease | Yes |
| R-HSA-8853336 | Signaling by plasma membrane FGFR1 fusions | Yes |
| R-HSA-9758919 | Epithelial-Mesenchymal Transition (EMT) during gastrulation | No |
| R-HSA-9793380 | Formation of paraxial mesoderm | No |
| R-HSA-109704 | PI3K Cascade | No |
| R-HSA-1257604 | PIP3 activates AKT signaling | No |
| R-HSA-1839120 | Signaling by FGFR1 amplification mutants | Yes |
| R-HSA-190370 | FGFR1b ligand binding and activation | No |
| R-HSA-190373 | FGFR1c ligand binding and activation | No |
| R-HSA-190374 | FGFR1c and Klotho ligand binding and activation | No |
| R-HSA-2219530 | Constitutive Signaling by Aberrant PI3K in Cancer | Yes |
| R-HSA-375165 | NCAM signaling for neurite out-growth | No |
| R-HSA-445144 | Signal transduction by L1 | No |
| R-HSA-5654219 | Phospholipase C-mediated cascade: FGFR1 | No |
| R-HSA-5654687 | Downstream signaling of activated FGFR1 | No |
| R-HSA-5654688 | SHC-mediated cascade: FGFR1 | No |
| R-HSA-5654689 | PI-3K cascade: FGFR1 | No |
| R-HSA-5654693 | FRS-mediated FGFR1 signaling | No |
| R-HSA-5654726 | Negative regulation of FGFR1 signaling | No |
| R-HSA-5673001 | RAF/MAP kinase cascade | No |
| R-HSA-6811558 | PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling | No |
MSigDB Gene Sets (100+ total)
Key gene sets include FGFR-specific pathways (M1090, M1092) and developmental/signaling GO terms (skeletal system development, epithelium development, morphogenesis, MAPK cascade regulation, neurogenesis, proliferation control).
Gene Ontology Annotations
Biological Process (68 terms)
| Term ID | Term Name |
|---|---|
| GO:0008543 | fibroblast growth factor receptor signaling pathway |
| GO:0001525 | angiogenesis |
| GO:0001837 | epithelial to mesenchymal transition |
| GO:0001501 | skeletal system development |
| GO:0048705 | skeletal system morphogenesis |
| GO:0000165 | MAPK cascade |
| GO:0043410 | positive regulation of MAPK cascade |
| GO:0006468 | protein phosphorylation |
| GO:0046777 | protein autophosphorylation |
| GO:0030326 | embryonic limb morphogenesis |
| GO:0001764 | neuron migration |
| GO:0031175 | neuron projection development |
| GO:0010976 | positive regulation of neuron projection development |
| GO:0045666 | positive regulation of neuron differentiation |
| GO:0001701 | in utero embryonic development |
| GO:0043009 | chordate embryonic development |
| GO:0002062 | chondrocyte differentiation |
| GO:0048863 | stem cell differentiation |
| GO:0072089 | stem cell proliferation |
| GO:0044344 | cellular response to fibroblast growth factor stimulus |
Molecular Function (9 terms)
| Term ID | Term Name |
|---|---|
| GO:0005007 | fibroblast growth factor receptor activity |
| GO:0004713 | protein tyrosine kinase activity |
| GO:0017134 | fibroblast growth factor binding |
| GO:0008201 | heparin binding |
| GO:0005524 | ATP binding |
| GO:0042169 | SH2 domain binding |
| GO:0042803 | protein homodimerization activity |
| GO:0042802 | identical protein binding |
| GO:0090722 | receptor-receptor interaction |
Cellular Component (9 terms)
| Term ID | Term Name |
|---|---|
| GO:0005886 | plasma membrane |
| GO:0016020 | membrane |
| GO:0043235 | receptor complex |
| GO:0005576 | extracellular region |
| GO:0005634 | nucleus |
| GO:0005829 | cytosol |
| GO:0031410 | cytoplasmic vesicle |
| GO:0098794 | postsynapse |
| GO:0098978 | glutamatergic synapse |
Protein interactions & networks
Total protein-protein interactions: ~4,000+ (STRING: 4,013 | BioGRID: 100+ | IntAct: 100+)
Top 30 highest-confidence interacting proteins
| Rank | Protein | Uniprot ID | Source | Score/Evidence | Interaction Type |
|---|---|---|---|---|---|
| 1 | FGF2 | P55075 | STRING | 999 | Direct interaction |
| 2 | Fibroblast growth factor receptor-like 1 | P05230 | STRING | 998 | - |
| 3 | Protein kinase C alpha | P08620 | STRING | 998 | - |
| 4 | Protein kinase C beta-1 | P09038 | STRING | 998 | - |
| 5 | Protein kinase C gamma | P31371 | STRING | 998 | - |
| 6 | Rac/RhoA guanine nucleotide exchange factor | Q92913 | STRING | 998 | - |
| 7 | Tyrosine-protein phosphatase non-receptor type 6 | O15520 | STRING | 997 | - |
| 8 | Hematopoietic cell kinase | O60258 | STRING | 997 | - |
| 9 | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit | P10767 | STRING | 997 | - |
| 10 | Protein tyrosine kinase 2 | P11487 | STRING | 997 | - |
| 11 | Pleckstrin homology domain-containing family A member 1 | P12034 | STRING | 997 | - |
| 12 | Phospholipase C gamma-1 | P21781 | STRING | 997 | Direct interaction (0.90) |
| 13 | Growth factor receptor-bound protein 2-like adaptor protein | Q86Z14 | STRING | 997 | - |
| 14 | GTPase-activating protein | Q9GZV9 | STRING | 997 | - |
| 15 | Catenin alpha-1 | Q9UEF7 | STRING | 997 | - |
| 16 | SRC proto-oncogene protein | O76093 | STRING | 996 | - |
| 17 | STAT5A | O43320 | STRING | 995 | - |
| 18 | Dual specificity protein phosphatase 3 | Q9HCT0 | STRING | 995 | - |
| 19 | Receptor protein-tyrosine kinase-like orphan receptor 1 | Q9NP95 | STRING | 995 | - |
| 20 | GTPase Kras | Q8WU20 | STRING | 987 | - |
| 21 | FGF ligand | Q9NSA1 | STRING | 986 | Direct interaction (0.44) |
| 22 | Proto-oncogene tyrosine-protein kinase Src | P13591 | STRING | 942 | - |
| 23 | Fibroblast growth factor 1 | P22455 | STRING | 935 | Direct interaction (0.84) |
| 24 | Fibroblast growth factor 2 | P23352 | STRING | 935 | Direct interaction (0.91) |
| 25 | Adaptor protein complex AP-1 | P08908 | STRING | 887 | - |
| 26 | Clathrin heavy chain 1 | P31431 | STRING | 887 | - |
| 27 | Catenin beta-1 (β-catenin) | Q14449 | STRING | 886 | Physical association (0.62) |
| 28 | MAPK kinase kinase 1 | P19022 | STRING | 885 | - |
| 29 | Mitogen-activated protein kinase 1 | O95750 | STRING | 884 | - |
| 30 | Non-receptor tyrosine-protein kinase TNK2 | P19174 | STRING | 868 | - |
High-confidence direct interactions (IntAct): FGF2 (0.91), FGF1 (0.84), PLCG1 (0.90), CTNNB1 (0.62), CDH1 (0.54), FGFR1 homodimer (0.62), FGF23 (0.54), Kl/KLB (0.56)
Structural/embedding similarity (ESM2) — Top 20
| Rank | Protein ID | Top Score | Avg Similarity | Notes |
|---|---|---|---|---|
| 1 | B4GBH0 | 1.0000 | 0.9887 | Perfect match |
| 2 | B4HNW4 | 1.0000 | 0.9889 | Perfect match |
| 3 | B4QC63 | 1.0000 | 0.9889 | Perfect match |
| 4 | Q290N5 | 1.0000 | 0.9886 | Perfect match |
| 5 | Q6AWJ9 | 0.9999 | 0.9891 | Near-perfect |
| 6 | B3NS99 | 0.9999 | 0.9885 | Near-perfect |
| 7 | B4P5Q9 | 0.9999 | 0.9883 | Near-perfect |
| 8 | Q04589 | 0.9999 | 0.9910 | FGF receptor-related |
| 9 | P21804 | 0.9993 | 0.9914 | Human FGFR1 paralogue |
| 10 | P16092 | 0.9999 | 0.9910 | Mouse FGFR1 |
| 11 | P22182 | 0.9992 | 0.9915 | FGF receptor |
| 12 | Q91285 | 0.9993 | 0.9916 | FGF receptor ortholog |
| 13 | P18460 | 0.9990 | 0.9885 | FGF receptor |
| 14 | P18461 | 0.9997 | 0.9883 | FGF receptor family |
| 15 | P21802 | 0.9997 | 0.9874 | FGF receptor |
| 16 | P21803 | 0.9997 | 0.9882 | FGF receptor |
| 17 | P22607 | 0.9994 | 0.9866 | Tyrosine kinase |
| 18 | B3MH43 | 0.9995 | 0.9873 | FGFR-related |
| 19 | B4KPU0 | 0.9993 | 0.9870 | FGF receptor |
| 20 | O42127 | 0.9984 | 0.9917 | Avian FGF receptor |
Sequence homology (DIAMOND) — Top 20
| Rank | Protein ID | Identity (%) | Bit Score | Similarity |
|---|---|---|---|---|
| 1 | A0M8S8 | 100.0 | 2,803 | Identical sequence |
| 2 | P08581 | 99.8 | 2,813 | Highly homologous |
| 3 | A0M8R7 | 99.3 | 2,784 | Highly homologous |
| 4 | P08069 | 97.7 | 2,685 | Highly conserved |
| 5 | P24062 | 99.5 | 2,784 | Highly conserved |
| 6 | P09581 | 99.6 | 1,887 | Highly conserved |
| 7 | P06213 | 99.5 | 2,691 | Highly conserved |
| 8 | P16056 | 95.3 | 2,675 | Well conserved |
| 9 | P35917 | 95.9 | 2,650 | Well conserved |
| 10 | P97523 | 95.3 | 2,674 | Well conserved |
| 11 | P35918 | 95.2 | 2,582 | Well conserved |
| 12 | P97793 | 86.6 | 2,728 | Moderately conserved |
| 13 | O60674 | 99.7 | 2,316 | Highly conserved |
| 14 | O08775 | 95.2 | 2,575 | Well conserved |
| 15 | P0DV84 | 89.1 | 2,845 | Moderately conserved |
| 16 | O19064 | 95.3 | 2,239 | Well conserved |
| 17 | G3V9H8 | 94.4 | 2,149 | Well conserved |
| 18 | P52332 | 93.7 | 2,181 | Well conserved |
| 19 | O97799 | 98.4 | 1,845 | Highly conserved |
| 20 | P35546 | 94.4 | 2,146 | Well conserved |
Network summary: FGFR1 forms a major signaling hub with FGF ligands (FGF1, FGF2, FGF8, FGF23) and co-receptors (Kl/KLB), connecting to downstream kinase cascades (PI3K, PLC-γ1, SRC, ERK-MAPK pathways) and structural proteins (β-catenin, cadherins).
Transcription factor regulatory data
FGFR1 is not a transcription factor. FGFR1 is a receptor tyrosine kinase (RTK) with fibroblast growth factor binding and signaling activity. Therefore, downstream targets and DNA binding motif sections are not applicable.
Upstream Regulators
Total count: 102 transcription factors regulate FGFR1 expression
Top upstream regulators with defined regulation type and/or high confidence:
| Transcription Factor | Regulation Type | Confidence |
|---|---|---|
| E2F1 | Activation | High |
| KLF9 | Activation | High |
| TEAD4 | Activation | High |
| KLF10 | Repression | High |
| SP1 | Unknown | High |
| E2F4 | Unknown | High |
| ATF1 | Activation | High |
| CEBPB | — | High |
| DNMT1 | — | High |
| EZH2 | — | High |
| GATA3 | — | High |
| HINFP | — | High |
| IRF1 | — | High |
| IRF2 | — | High |
| IRF3 | — | High |
| KAT7 | — | High |
| KDM5A | — | High |
| KDM5B | — | High |
| KDM5C | — | High |
| KMT2A | — | High |
| MBD2 | — | High |
| NFE2L2 | — | High |
| PAX3 | — | High |
| RARA | — | High |
| SP3 | — | High |
| SP7 | — | High |
| TAL1 | — | High |
| TBP | — | High |
| TCF3 | — | High |
| TFAP2A | — | High |
Evidence type: Predictions from CollecTRI (a comprehensive transcription factor regulatory network resource integrating ChIP-seq, DNase-seq, and computational predictions).
Drug & pharmacology data
Targeting Molecules
FGFR1 is a well-established drug target with 4,055 molecules in ChEMBL and 30 drugs in DrugBank.
Top Approved Drugs (Phase 4) by Clinical Trial Count:
| Molecule ID | Name | Mechanism | Trials | Notes |
|---|---|---|---|---|
| CHEMBL1336 | Sorafenib (Nexavar) | Multi-kinase inhibitor (FGFR1, VEGFR, RAF) | 572 | Approved for renal/hepatocellular carcinoma |
| CHEMBL1289601 | Lenvatinib (Kisplyx) | Multi-kinase inhibitor (FGFR1, VEGFR, RET, KIT) | 425 | Approved for thyroid, endometrial, hepatocellular carcinoma |
| CHEMBL1289926 | Axitinib (Inlyta) | Multi-kinase inhibitor (VEGFR1/2/3, FGFR1) | 172 | Approved for renal cell carcinoma |
| CHEMBL1171837 | Ponatinib (Iclusig) | Pan-kinase inhibitor (BCR-ABL, FGFR1, multi-target) | 58 | Approved for CML/ALL |
| CHEMBL1289494 | Tivozanib (Fotivda) | Multi-kinase inhibitor (VEGFR1/2/3, FGFR1) | 36 | Approved for renal cell carcinoma |
| CHEMBL1287853 | Fedratinib (Inrebic) | JAK2/FLT3 inhibitor (also FGFR1 active) | 27 | Approved for myelofibrosis |
| CHEMBL1852688 | Infigratinib (Truseltiq) | FGFR-selective inhibitor (1/2/3) | 28 | Approved for cholangiocarcinoma with FGFR2 fusions |
Clinical Trials
Top active/recent trials involving FGFR1-targeting drugs span multiple cancer indications (renal, hepatocellular, thyroid, cholangiocarcinoma, myelofibrosis) and phase 2-4 development stages. LENVATINIB and SORAFENIB together account for >900 registered trials, reflecting their multi-indication approval status.
Pharmacogenomics
Known biomarkers: FGFR1 gene alterations (mutations, translocations, amplifications) predict response to FGFR inhibitors; clinically used for:
- Cholangiocarcinoma: FGFR2 fusions/mutations select for infigratinib
- Lung cancer: FGFR1 amplification/mutations predict response to FGFR inhibitors
- Myeloproliferative neoplasms: JAK2 V617F co-testing with fedratinib
No established pharmacogenomic dosing guidelines for CYP450 polymorphisms or other germline variants currently exist for FGFR1-targeting drugs in standard practice. Dose adjustments based on organ function (hepatic/renal) are typical rather than genotype-guided.
Expression profiles
Tissue Expression (Bgee)
FGFR1 shows ubiquitous expression across human tissues with high breadth (292 tissues with present calls out of 294 conditions). Maximum expression score: 98.95; average: 90.66.
| Rank | Tissue/Condition | Expression Score | Quality |
|---|---|---|---|
| 1 | Buccal mucosa cell | 98.95 | Gold |
| 2 | Stromal cell of endometrium | 98.88 | Gold |
| 3 | Calcaneal tendon | 98.84 | Gold |
| 4 | Right ovary | 98.59 | Gold |
| 5 | Paraflocculus | 98.54 | Gold |
| 6 | Left ovary | 98.49 | Gold |
| 7 | Right coronary artery | 98.47 | Gold |
| 8 | Left uterine tube | 98.44 | Gold |
| 9 | Cerebellar hemisphere | 98.42 | Gold |
| 10 | Right hemisphere of cerebellum | 98.38 | Gold |
| 11 | Cerebellar cortex | 98.37 | Gold |
| 12 | Cerebellum | 98.30 | Gold |
| 13 | Descending thoracic aorta | 98.29 | Gold |
| 14 | Body of pancreas | 98.25 | Gold |
| 15 | Ascending aorta | 98.23 | Gold |
| 16 | Thoracic aorta | 98.22 | Gold |
| 17 | Aorta | 98.17 | Gold |
| 18 | Popliteal artery | 98.16 | Gold |
| 19 | Tibial artery | 98.15 | Gold |
| 20 | Gall bladder | 98.11 | Gold |
| 21 | Mucosa of stomach | 98.07 | Gold |
| 22 | Lower esophagus muscularis layer | 98.06 | Gold |
| 23 | Saphenous vein | 98.05 | Gold |
| 24 | Lower esophagus | 98.02 | Gold |
| 25 | Esophagogastric junction muscularis propria | 98.02 | Gold |
| 26 | Colonic epithelium | 97.94 | Gold |
| 27 | Omental fat pad | 97.90 | Gold |
| 28 | Peritoneum | 97.89 | Gold |
| 29 | Coronary artery | 97.89 | Gold |
| 30 | Tibial nerve | 97.83 | Gold |
Tissue-enriched patterns: High expression in vascular tissues (coronary arteries, aorta, arteries), endocrine tissues (ovary, pancreas), nervous system (cerebellum, paraflocculus), and mesenchymal tissues (tendons, stromal cells). Strong mucosal expression.
Cell Type Expression
Cell type information is integrated with tissue data in Bgee. Notable cell type entries include:
- Buccal mucosa cell (98.95) — highest cell type expression
- Stromal cell of endometrium (98.88) — reproductive tissue
This reflects FGFR1’s role in fibroblast and stromal cell biology, consistent with its identity as a fibroblast growth factor receptor.
Single-Cell RNA-seq Datasets (SCXA)
FGFR1 is covered across 14 major single-cell studies:
| Study ID | Description | Species | Cell Count |
|---|---|---|---|
| E-CURD-126 | Normal and fibrotic lungs | Homo sapiens | 121,080 |
| E-MTAB-7407 | Fetal liver, skin, kidney | Homo sapiens | 473,803 |
| E-MTAB-8142 | Breast skin cells | Homo sapiens | 809,675 |
| E-MTAB-10855 | Mammary gland lactation | Homo sapiens | 74,404 |
| E-MTAB-10018 | Pluripotent stem cells | Homo sapiens | 37,007 |
| E-MTAB-5061 | Pancreas (healthy & T2D) | Homo sapiens | 3,386 |
| E-CURD-7 | Adult breast epithelium | Homo sapiens | 867 |
| E-ENAD-27 | Human islet cells (T2D) | Homo sapiens | 1,145 |
| E-MTAB-10885 | Milk vs. non-lactating breast | Homo sapiens | 28,628 |
| E-GEOD-75140 | Cerebral organoids (fetal neocortex) | Homo sapiens | 734 |
| E-MTAB-11121 | Retinal organoids (hESC-derived) | Homo sapiens | 22,253 |
| E-GEOD-93593 | Ventral cell differentiation (hESC) | Homo sapiens | 1,733 |
| E-ENAD-21 | Breast epithelial cells | Homo sapiens | 867 |
| E-MTAB-9841 | Mammary epithelial cells (lactation) | Homo sapiens | 92,071 |
Notable populations: FGFR1 expression is documented in fibrotic lung tissue, developmental tissues (neural, retinal organoids), pancreatic islet cells, and reproductive/mammary tissues, aligning with its roles in mesenchymal, endothelial, and developmental biology.
Disease associations
Mendelian / monogenic disease
Skeletal dysplasias and craniosynostosis syndromes:
| Disease | Disease ID(s) | Inheritance | Evidence |
|---|---|---|---|
| Pfeiffer syndrome | OMIM:101600 | Autosomal dominant | Definitive |
| Jackson-Weiss syndrome | OMIM:123150 | Autosomal dominant | Strong |
| Osteoglophonic dysplasia | OMIM:166250 | Autosomal dominant | Strong/Definitive |
| Hartsfield-Bixler-Demyer syndrome | OMIM:615465, MONDO:0014196, ORPHANET:2117 | Autosomal dominant | Definitive/Strong |
| Isolated trigonocephaly | ORPHANET:3366 | Autosomal dominant | Supportive |
Endocrine and reproductive disorders:
| Disease | Disease ID(s) | Inheritance | Evidence |
|---|---|---|---|
| Hypogonadotropic hypogonadism 2 with or without anosmia | OMIM:147950 | Autosomal dominant | Definitive |
| Kallmann syndrome | ORPHANET:478 | Autosomal dominant | Supportive |
| Normosmic congenital hypogonadotropic hypogonadism | ORPHANET:432 | Autosomal dominant | Supportive |
Developmental and neurological disorders:
| Disease | Disease ID(s) | Inheritance | Evidence |
|---|---|---|---|
| Encephalocraniocutaneous lipomatosis | OMIM:613001, MONDO:0013074, ORPHANET:2396 | Autosomal dominant | Definitive |
| Septooptic dysplasia | ORPHANET:3157 | Autosomal dominant | Supportive |
| Holoprosencephaly | MONDO:0016296, ORPHANET:2162 | Autosomal recessive | Supportive |
| Lobar holoprosencephaly | MONDO:0019756, ORPHANET:93924 | Autosomal dominant | Supportive |
Craniofacial and dental abnormalities:
| Disease | Disease ID(s) | Inheritance | Evidence |
|---|---|---|---|
| Tooth agenesis | ORPHANET:99798 | Autosomal dominant | Supportive |
| Orofacial cleft | MONDO:0007335 | Autosomal dominant | Supportive |
Other neoplastic conditions:
| Disease | Disease ID(s) | Inheritance | Evidence |
|---|---|---|---|
| Pilomyxoid astrocytoma | MONDO:0016692, ORPHANET:251615 | Somatic mutations | — |
Phenotype associations
Top 30 HPO terms associated with FGFR1:
| HPO ID | Phenotype |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0001363 | Craniosynostosis |
| HP:0001360 | Holoprosencephaly |
| HP:0000243 | Trigonocephaly |
| HP:0000044 | Hypogonadotropic hypogonadism |
| HP:0000458 | Anosmia |
| HP:0000175 | Cleft palate |
| HP:0000202 | Orofacial cleft |
| HP:0000204 | Cleft upper lip |
| HP:0001508 | Failure to thrive |
| HP:0001249 | Intellectual disability |
| HP:0001360 | Holoprosencephaly |
| HP:0000238 | Hydrocephalus |
| HP:0000252 | Microcephaly |
| HP:0000256 | Macrocephaly |
| HP:0000271 | Abnormality of the face |
| HP:0000929 | Abnormal skull morphology |
| HP:0001321 | Cerebellar hypoplasia |
| HP:0000316 | Hypertelorism |
| HP:0001012 | Multiple lipomas |
| HP:0001627 | Abnormal heart morphology |
| HP:0000026 | Male hypogonadism |
| HP:0000028 | Cryptorchidism |
| HP:0000164 | Abnormality of the dentition |
| HP:0000677 | Oligodontia |
| HP:0000685 | Hypoplasia of teeth |
| HP:0000823 | Delayed puberty |
| HP:0001159 | Syndactyly |
| HP:0000764 | Abnormality of the skeletal system |
| HP:0001511 | Intrauterine growth retardation |
Complex-disease / GWAS associations
Top 30 GWAS associations with FGFR1 locus:
| Trait | Variant/Gene | P-value | Study ID |
|---|---|---|---|
| Nonsyndromic cleft lip with cleft palate | FGFR1 | 4.0e-08 | GCST004166_49 |
| Autism spectrum disorder or schizophrenia | FGFR1 | 4.0e-09 | GCST004521_142 |
| PR interval | FGFR1-LINC03042 | 5.0e-10 | GCST007045_31 |
| Birth weight | FGFR1-LINC03042 | 8.0e-11 | GCST008362_94 |
| Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome | FGFR1 | 2.0e-09 | GCST009600_6 |
| Type 2 diabetes | FGFR1-LINC03042 | 4.0e-08 | GCST010118_105 |
| Triglyceride levels | FGFR1-LINC03042 | 4.0e-09 | GCST010244_265 |
| PR interval | FGFR1-LINC03042 | 3.0e-19 | GCST010321_68 |
| Electrocardiogram morphology (amplitude at temporal datapoints) | FGFR1 | 1.0e-11 | GCST010796_2009 |
| Electrocardiogram morphology (amplitude at temporal datapoints) | FGFR1 | 2.0e-08 | GCST010796_2010 |
| Electrocardiogram morphology (amplitude at temporal datapoints) | FGFR1 | 4.0e-10 | GCST010796_2802 |
| Electrocardiogram morphology (amplitude at temporal datapoints) | FGFR1 | 6.0e-09 | GCST010796_2803 |
| Electrocardiogram morphology (amplitude at temporal datapoints) | FGFR1 | 2.0e-08 | GCST010796_67 |
| Electrocardiogram morphology (amplitude at temporal datapoints) | FGFR1 | 3.0e-08 | GCST010796_68 |
| Electrocardiogram morphology (amplitude at temporal datapoints) | FGFR1 | 3.0e-09 | GCST010796_69 |
| Electrocardiogram morphology (amplitude at temporal datapoints) | FGFR1 | 2.0e-08 | GCST010796_70 |
| Electrocardiogram morphology (amplitude at temporal datapoints) | FGFR1 | 3.0e-09 | GCST010796_71 |
| Electrocardiogram morphology (amplitude at temporal datapoints) | FGFR1 | 2.0e-09 | GCST010796_72 |
| Electrocardiogram morphology (amplitude at temporal datapoints) | FGFR1 | 3.0e-09 | GCST010796_73 |
| Electrocardiogram morphology (amplitude at temporal datapoints) | FGFR1 | 9.0e-10 | GCST010796_74 |
| Electrocardiogram morphology (amplitude at temporal datapoints) | FGFR1 | 2.0e-10 | GCST010796_75 |
| Adult body size | FGFR1-LINC03042 | 7.0e-09 | GCST010988_218 |
| Body size at age 10 | FGFR1-LINC03042 | 7.0e-09 | GCST010989_14 |
| Response to cognitive-behavioural therapy in anxiety disorder | FGFR1-LINC03042 | 4.0e-06 | GCST003469_12 |
| Age at first sexual intercourse | FGFR1-LINC03042 | 1.0e-08 | GCST90000047_63 |
| Erosive tooth wear (severe vs non-severe) | LINC03042 | 6.0e-06 | GCST006218_24 |
| Erosive tooth wear (severe vs non-severe) | LINC03042 | 8.0e-09 | GCST006218_68 |
| Erosive tooth wear (severe vs none or mild) | LINC03042 | 5.0e-06 | GCST006226_13 |
| Bipolar disorder | LETM2 | 7.0e-06 | GCST008103_171 |