Eating disorder
diseaseOn this page
Also known as feeding and eating disorder
Summary
Eating disorder (MONDO:0005451) is a disease (an umbrella term covering 6 Mondo subtypes) with 35 cohort genes (39 GWAS associations across 13 studies) and 404 clinical trials. Top therapeutic interventions include naltrexone, fluoxetine, and acipimox.
At a glance
- Umbrella term: 6 Mondo subtypes
- Cohort genes: 35
- GWAS associations: 39
- Clinical trials: 404
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | eating disorder |
| Mondo ID | MONDO:0005451 |
| EFO | EFO:0005203 |
| DOID | DOID:8670 |
| NCIT | C89332 |
| SNOMED CT | 72366004 |
| UMLS | C0013473 |
| MedGen | 4434 |
| Is cancer (heuristic) | no |
Also known as: eating disorder · feeding and eating disorder
Data availability: 39 GWAS associations (13 studies).
Disease family
An umbrella term covering 6 Mondo subtypes.
Classification path: disease › human disease › disease by developmental or physiological process › psychiatric disorder › eating disorder
Related subtypes (13): sexual disorder, dissociative disorder, impulse control disorder, personality disorder, cognitive disorder, factitious disorder, substance-related disorder, somatoform disorder, mental disorder, enuresis, Alice in Wonderland syndrome, catatonia, body integrity dysphoria
Subtypes (6): rumination disorder, pica disease, anorexia nervosa, bulimia nervosa, binge eating disorder, avoidant/restrictive food intake disorder
Genetics & variants
GWAS landscape
39 GWAS associations across 13 studies. Top hits map to 23 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs553488395 | 3e-12 | LAMB1 | A | 4.64 |
| rs575501818 | 5e-12 | COTL1P1 - TBC1D27P | T | 2.39 |
| rs1185525986 | 7e-12 | RNU6-1018P - NEFHP2 | G | 3.5 |
| rs150212866 | 1e-11 | LINC02434 - RPL7AP27 | T | 1.91 |
| rs149524272 | 2e-11 | RNA5SP228 - NPY | C | 2.45 |
| rs4854912 | 9e-08 | SOX2-OT | T | 1.91 |
| rs138206701 | 1e-07 | RASGRF2 | A | 0.33 |
| rs13086738 | 2e-07 | SOX2-OT | G | 1.84 |
| rs10858583 | 2e-07 | RPL23AP68 - CYCSP30 | C | 1.84 |
| rs12149074 | 4e-07 | LINC01228 - DYNLRB2-AS1 | G | 1.89 |
| rs4148087 | 4e-07 | ABCG1 | A | 2 |
| rs74566133 | 7e-07 | MTCO1P49 - ZFAT | C | 0.25 |
| rs12475512 | 7e-07 | B3GNT7 - ZBTB8OSP2 | G | 0.11 |
| rs7322916 | 8e-07 | ATP8A2 | G | 0.09 |
| rs13077017 | 1e-06 | FLNB | C | 0.07 |
| rs1805576 | 1e-06 | FXR1 | G | 1.79 |
| rs10175070 | 2e-06 | CCL20 | A | 0.12 |
| rs3120667 | 2e-06 | CCDST | A | 0.12 |
| rs2115200 | 2e-06 | SAYSD1 - KCNK5 | T | 0.1 |
| rs1516459 | 3e-06 | ROBO2 | C | 0.27 |
| rs7912575 | 3e-06 | NRG3 | G | 4.52 |
| rs10998035 | 4e-06 | LINC02640 - KRT19P4 | C | 0.15 |
| rs11087123 | 4e-06 | MACROD2 | A | 0.12 |
| rs10906233 | 4e-06 | CAMK1D | C | 0.29 |
| rs10965890 | 4e-06 | LINC03142 - SUMO2P2 | C | 2.27 |
| rs514024 | 5e-06 | SH2D3C | A | 0.06 |
| rs2221433 | 5e-06 | EMP2 | G | 0.09 |
| rs9845942 | 5e-06 | CRBN - SUMF1 | T | 1.68 |
| rs142816172 | 6e-06 | CSMD1 | C | 0.27 |
| rs145433814 | 6e-06 | RNA5SP94 - MIR4432HG | G | 0.24 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90481817 | Verma A | 2024 | 1,754 | 448,642 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90473285 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 917 | 457,523 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90726744 | Kim HI | 2026 | 808 | 43,218 | Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity. |
| GCST001959 | Wade TD | 2013 | 600 | 1,921 | Genetic variants associated with disordered eating. |
| GCST001960 | Wade TD | 2013 | 543 | 1,116 | Genetic variants associated with disordered eating. |
| GCST90480760 | Verma A | 2024 | 389 | 121,221 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90481816 | Verma A | 2024 | 389 | 121,221 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90481815 | Verma A | 2024 | 268 | 59,515 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST001961 | Wade TD | 2013 | 237 | 2,287 | Genetic variants associated with disordered eating. |
| GCST003132 | Liu X | 2015 | 184 | 2,006 | A genome-wide association study of bipolar disorder with comorbid eating disorder replicates the SOX2-OT region. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 0 |
| Tier 2: splice/UTR | 1 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 35 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 22 |
| low_freq (0.01-0.05) | 9 |
| rare (<0.01) | 5 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 26 |
| intergenic_variant | 8 |
| 3_prime_UTR_variant | 1 |
| synonymous_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs553488395 | 7 | 107991243 | A>G | 0 | intron_variant | LAMB1 | 3e-12 | Tier 4: intronic/intergenic |
| rs575501818 | 17 | 16886147 | T>A | 0.001 | intergenic_variant | COTL1P1 - TBC1D27P | 5e-12 | Tier 4: intronic/intergenic |
| rs1185525986 | 20 | 41696117 | G>A,C | 0.001 | intron_variant | RNU6-1018P - NEFHP2 | 7e-12 | Tier 4: intronic/intergenic |
| rs150212866 | 4 | 188263850 | T>C | 0.001 | intron_variant | LINC02434 - RPL7AP27 | 1e-11 | Tier 4: intronic/intergenic |
| rs149524272 | 7 | 24134044 | C>T | 0.001 | intergenic_variant | RNA5SP228 - NPY | 2e-11 | Tier 4: intronic/intergenic |
| rs4854912 | 3 | 181063312 | C>A,T | 0.19 | intron_variant | SOX2-OT | 9e-08 | Tier 4: intronic/intergenic |
| rs138206701 | 5 | 81110747 | A>G | 0.02 | intron_variant | RASGRF2 | 1e-07 | Tier 4: intronic/intergenic |
| rs13086738 | 3 | 181080939 | A>G | 0.2 | intron_variant | SOX2-OT | 2e-07 | Tier 4: intronic/intergenic |
| rs10858583 | 12 | 87334666 | C>T | 0.23 | intergenic_variant | RPL23AP68 - CYCSP30 | 2e-07 | Tier 4: intronic/intergenic |
| rs12149074 | 16 | 80071969 | C>A,G,T | 0.37 | intron_variant | LINC01228 - DYNLRB2-AS1 | 4e-07 | Tier 4: intronic/intergenic |
| rs4148087 | 21 | 42202157 | G>A,T | 0.13 | intergenic_variant | ABCG1 | 4e-07 | Tier 4: intronic/intergenic |
| rs74566133 | 8 | 133766099 | C>T | 0.031 | intergenic_variant | MTCO1P49 - ZFAT | 7e-07 | Tier 4: intronic/intergenic |
| rs12475512 | 2 | 231433365 | G>A | 0.457 | intron_variant | B3GNT7 - ZBTB8OSP2 | 7e-07 | Tier 4: intronic/intergenic |
| rs7322916 | 13 | 25433839 | G>A,C | 0.499 | intron_variant | ATP8A2 | 8e-07 | Tier 4: intronic/intergenic |
| rs13077017 | 3 | 58120049 | C>A,T | 0.29 | intron_variant | FLNB | 1e-06 | Tier 4: intronic/intergenic |
| rs1805576 | 3 | 180949777 | C>G,T | 0.21 | intron_variant | FXR1 | 1e-06 | Tier 4: intronic/intergenic |
| rs10175070 | 2 | 227805859 | G>A,C,T | 0.25 | intergenic_variant | CCL20 | 2e-06 | Tier 4: intronic/intergenic |
| rs3120667 | 1 | 152345685 | A>C,G,T | 0.155 | intron_variant | CCDST | 2e-06 | Tier 4: intronic/intergenic |
| rs2115200 | 6 | 39149922 | T>A,C,G | 0.232 | intergenic_variant | SAYSD1 - KCNK5 | 2e-06 | Tier 4: intronic/intergenic |
| rs1516459 | 3 | 76212669 | T>A,C,G | 0.032 | intron_variant | ROBO2 | 3e-06 | Tier 4: intronic/intergenic |
| rs7912575 | 10 | 81895974 | A>G | 0.01 | intron_variant | NRG3 | 3e-06 | Tier 4: intronic/intergenic |
| rs10998035 | 10 | 68254473 | C>T | 0.055 | intergenic_variant | LINC02640 - KRT19P4 | 4e-06 | Tier 4: intronic/intergenic |
| rs11087123 | 20 | 15140098 | A>C,G | 0.262 | intron_variant | MACROD2 | 4e-06 | Tier 4: intronic/intergenic |
| rs10906233 | 10 | 12833208 | C>T | 0.021 | 3_prime_UTR_variant | CAMK1D | 4e-06 | Tier 2: splice/UTR |
| rs10965890 | 9 | 23516290 | T>A,C | 0.06 | intron_variant | LINC03142 - SUMO2P2 | 4e-06 | Tier 4: intronic/intergenic |
| rs514024 | 9 | 127741791 | G>A,C | 0.428 | synonymous_variant | SH2D3C | 5e-06 | Tier 4: intronic/intergenic |
| rs2221433 | 16 | 10569770 | T>A,C,G | 0.318 | intron_variant | EMP2 | 5e-06 | Tier 4: intronic/intergenic |
| rs9845942 | 3 | 3523843 | C>A,G,T | 0.27 | intron_variant | CRBN - SUMF1 | 5e-06 | Tier 4: intronic/intergenic |
| rs142816172 | 8 | 3298698 | C>T | 0.024 | intron_variant | CSMD1 | 6e-06 | Tier 4: intronic/intergenic |
| rs145433814 | 2 | 59899176 | G>A | 0.024 | intron_variant | RNA5SP94 - MIR4432HG | 6e-06 | Tier 4: intronic/intergenic |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 44 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| RYR2 | Orphanet:293888 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant |
| RYR2 | Orphanet:293899 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant |
| RYR2 | Orphanet:293910 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant |
| RYR2 | Orphanet:3286 | Catecholaminergic polymorphic ventricular tachycardia |
| SET | Orphanet:178469 | Autosomal dominant non-syndromic intellectual disability |
| SET | Orphanet:99861 | Precursor T-cell acute lymphoblastic leukemia |
| ATP8A2 | Orphanet:1766 | Dysequilibrium syndrome |
| ATOH7 | Orphanet:289499 | Congenital cataract microcornea with corneal opacity |
| ATOH7 | Orphanet:91495 | Persistent hyperplastic primary vitreous |
| NALCN | Orphanet:1146 | Distal arthrogryposis type 1 |
| NALCN | Orphanet:1147 | Sheldon-Hall syndrome |
| NALCN | Orphanet:2053 | Freeman-Sheldon syndrome |
| NALCN | Orphanet:562528 | Congenital limbs-face contractures-hypotonia-developmental delay syndrome |
| NALCN | Orphanet:700336 | Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency |
| DYNC2I2 | Orphanet:474 | Jeune syndrome |
| DYNC2I2 | Orphanet:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type |
| DNASE1L3 | Orphanet:300345 | Autosomal systemic lupus erythematosus |
| DNASE1L3 | Orphanet:36412 | Hypocomplementemic urticarial vasculitis |
| FLG2 | Orphanet:263548 | Peeling skin syndrome type A |
| EMP2 | Orphanet:656 | Hereditary steroid-resistant nephrotic syndrome |
| FGFR1 | Orphanet:168953 | Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement |
| FGFR1 | Orphanet:2117 | Hartsfield syndrome |
| FGFR1 | Orphanet:220386 | Semilobar holoprosencephaly |
| FGFR1 | Orphanet:2396 | Encephalocraniocutaneous lipomatosis |
| FGFR1 | Orphanet:251576 | Gliosarcoma |
| FGFR1 | Orphanet:251579 | Giant cell glioblastoma |
| FGFR1 | Orphanet:251615 | Pilomyxoid astrocytoma |
| FGFR1 | Orphanet:2645 | Osteoglosphonic dysplasia |
| FGFR1 | Orphanet:280200 | Microform holoprosencephaly |
| FGFR1 | Orphanet:314950 | Primary hypereosinophilic syndrome |
| FGFR1 | Orphanet:3157 | Septo-optic dysplasia spectrum |
| FGFR1 | Orphanet:3366 | Non-syndromic metopic craniosynostosis |
| FGFR1 | Orphanet:432 | Normosmic congenital hypogonadotropic hypogonadism |
| FGFR1 | Orphanet:478 | Kallmann syndrome |
| FGFR1 | Orphanet:93258 | Pfeiffer syndrome type 1 |
| FGFR1 | Orphanet:93924 | Lobar holoprosencephaly |
| FGFR1 | Orphanet:99798 | Oligodontia |
| FLNB | Orphanet:1190 | Atelosteogenesis type I |
| FLNB | Orphanet:1263 | Boomerang dysplasia |
| FLNB | Orphanet:3275 | Spondylocarpotarsal synostosis |
| FLNB | Orphanet:503 | Larsen syndrome |
| FLNB | Orphanet:56305 | Atelosteogenesis type III |
| PDE6D | Orphanet:2754 | Orofaciodigital syndrome type 6 |
| PDE6D | Orphanet:475 | Isolated Joubert syndrome |
Cohort genes → proteins
35 cohort genes, 34 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| gwas_only | 35 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| RYR2 | HGNC:10484 | ENSG00000198626 | Q92736 | Ryanodine receptor 2 | gwas |
| CCL20 | HGNC:10619 | ENSG00000115009 | P78556 | C-C motif chemokine 20 | gwas |
| SET | HGNC:10760 | ENSG00000119335 | Q01105 | Protein SET | gwas |
| CRNN | HGNC:1230 | ENSG00000143536 | Q9UBG3 | Cornulin | gwas |
| ATP8A2 | HGNC:13533 | ENSG00000132932 | Q9NTI2 | Phospholipid-transporting ATPase IB | gwas |
| ATOH7 | HGNC:13907 | ENSG00000179774 | Q8N100 | Transcription factor ATOH7 | gwas |
| CSMD1 | HGNC:14026 | ENSG00000183117 | Q96PZ7 | CUB and sushi domain-containing protein 1 | gwas |
| MACROD2 | HGNC:16126 | ENSG00000172264 | A1Z1Q3 | ADP-ribose glycohydrolase MACROD2 | gwas |
| CADM3 | HGNC:17601 | ENSG00000162706 | Q8N126 | Cell adhesion molecule 3 | gwas |
| PKN3 | HGNC:17999 | ENSG00000160447 | Q6P5Z2 | Serine/threonine-protein kinase N3 | gwas |
| NALCN | HGNC:19082 | ENSG00000102452 | Q8IZF0 | Sodium leak channel NALCN | gwas |
| ZDHHC12 | HGNC:19159 | ENSG00000160446 | Q96GR4 | Palmitoyltransferase ZDHHC12 | gwas |
| CAMK1D | HGNC:19341 | ENSG00000183049 | Q8IU85 | Calcium/calmodulin-dependent protein kinase type 1D | gwas |
| SOX2-OT | HGNC:20209 | ENSG00000242808 | SOX2 overlapping transcript | gwas | |
| SAYSD1 | HGNC:21025 | ENSG00000112167 | Q9NPB0 | SAYSvFN domain-containing protein 1 | gwas |
| C4orf17 | HGNC:25274 | ENSG00000138813 | Q53FE4 | Uncharacterized protein C4orf17 | gwas |
| ADH7 | HGNC:256 | ENSG00000196344 | P40394 | All-trans-retinol dehydrogenase [NAD(+)] ADH7 | gwas |
| TEKT5 | HGNC:26554 | ENSG00000153060 | Q96M29 | Tektin-5 | gwas |
| GADL1 | HGNC:27949 | ENSG00000144644 | Q6ZQY3 | Acidic amino acid decarboxylase GADL1 | gwas |
| DYNC2I2 | HGNC:28296 | ENSG00000119333 | Q96EX3 | Cytoplasmic dynein 2 intermediate chain 2 | gwas |
| DNASE1L3 | HGNC:2959 | ENSG00000163687 | Q13609 | Deoxyribonuclease gamma | gwas |
| SPHKAP | HGNC:30619 | ENSG00000153820 | Q2M3C7 | A-kinase anchor protein SPHKAP | gwas |
| ZER1 | HGNC:30960 | ENSG00000160445 | Q7Z7L7 | Protein zer-1 homolog | gwas |
| FLG2 | HGNC:33276 | ENSG00000143520 | Q5D862 | Filaggrin-2 | gwas |
| EMP2 | HGNC:3334 | ENSG00000213853 | P54851 | Epithelial membrane protein 2 | gwas |
| FGFR1 | HGNC:3688 | ENSG00000077782 | P11362 | Fibroblast growth factor receptor 1 | gwas |
| FLNB | HGNC:3755 | ENSG00000136068 | O75369 | Filamin-B | gwas |
| FXR1 | HGNC:4023 | ENSG00000114416 | P51114 | RNA-binding protein FXR1 | gwas |
| KCNK5 | HGNC:6280 | ENSG00000164626 | O95279 | Potassium channel subfamily K member 5 | gwas |
| ABCG1 | HGNC:73 | ENSG00000160179 | P45844 | ATP-binding cassette sub-family G member 1 | gwas |
| NUCLEOLIN | HGNC:7667 | ENSG00000115053 | P19338 | Nucleolin | gwas |
| NRG3 | HGNC:7999 | ENSG00000185737 | P56975 | Pro-neuregulin-3, membrane-bound isoform | gwas |
| PDE6D | HGNC:8788 | ENSG00000156973 | O43924 | Retinal rod rhodopsin-sensitive cGMP 3’,5’-cyclic phosphodiesterase subunit delta | gwas |
| PTMA | HGNC:9623 | ENSG00000187514 | P06454 | Prothymosin alpha | gwas |
| RASGRF2 | HGNC:9876 | ENSG00000113319 | O14827 | Ras-specific guanine nucleotide-releasing factor 2 | gwas |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| RYR2 | Ryanodine receptor 2 | Cytosolic calcium-activated calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytosol and thereby plays a key role in triggering cardiac muscle contraction. |
| CCL20 | C-C motif chemokine 20 | Acts as a ligand for C-C chemokine receptor CCR6. |
| SET | Protein SET | Multitasking protein, involved in apoptosis, transcription, nucleosome assembly and histone chaperoning. |
| CRNN | Cornulin | Promotes cell proliferation, G1/S cell cycle progression and induces expression of the cell cycle regulator CCND1. |
| ATP8A2 | Phospholipid-transporting ATPase IB | Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric dis… |
| ATOH7 | Transcription factor ATOH7 | Transcription factor that binds to DNA at the consensus sequence 5’-CAG[GC]TG-3'. |
| CSMD1 | CUB and sushi domain-containing protein 1 | Potential suppressor of squamous cell carcinomas. |
| MACROD2 | ADP-ribose glycohydrolase MACROD2 | Removes ADP-ribose from aspartate and glutamate residues in proteins bearing a single ADP-ribose moiety. |
| CADM3 | Cell adhesion molecule 3 | Involved in cell-cell adhesion. |
| PKN3 | Serine/threonine-protein kinase N3 | Contributes to invasiveness in malignant prostate cancer. |
| NALCN | Sodium leak channel NALCN | Voltage-gated ion channel responsible for the resting Na(+) permeability that controls neuronal excitability. |
| ZDHHC12 | Palmitoyltransferase ZDHHC12 | Palmitoyltransferase that catalyzes the addition of palmitate onto various protein substrates. |
| CAMK1D | Calcium/calmodulin-dependent protein kinase type 1D | Calcium/calmodulin-dependent protein kinase that operates in the calcium-triggered CaMKK-CaMK1 signaling cascade and, upon calcium influx, activates CREB-dependent gene transcription, regulates calcium-mediated granulocyte function and res… |
| SAYSD1 | SAYSvFN domain-containing protein 1 | Ufmylation ‘reader’ component of a translocation-associated quality control pathway, a mechanism that takes place when a ribosome has stalled during translation, and which is required to degrade clogged substrates. |
| ADH7 | All-trans-retinol dehydrogenase [NAD(+)] ADH7 | Catalyzes the NAD-dependent oxidation of all-trans-retinol, alcohol, and omega-hydroxy fatty acids and their derivatives. |
| TEKT5 | Tektin-5 | Sperm-specific microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in flagellar axoneme. |
| GADL1 | Acidic amino acid decarboxylase GADL1 | May catalyze the decarboxylation of L-aspartate, 3-sulfino-L-alanine (cysteine sulfinic acid), and L-cysteate to beta-alanine, hypotaurine and taurine, respectively. |
| DYNC2I2 | Cytoplasmic dynein 2 intermediate chain 2 | Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 2 complex (dynein-2 complex), a motor protein complex that drives the movement of cargos along microtubules within cilia and flagella in concert with the i… |
| DNASE1L3 | Deoxyribonuclease gamma | Has DNA hydrolytic activity. |
| SPHKAP | A-kinase anchor protein SPHKAP | Anchoring protein that binds preferentially to the type I regulatory subunit of c-AMP-dependent protein kinase (PKA type I) and targets it to distinct subcellular compartments. |
| ZER1 | Protein zer-1 homolog | Serves as substrate adapter subunit in the E3 ubiquitin ligase complex ZYG11B-CUL2-Elongin BC. |
| FLG2 | Filaggrin-2 | Essential for normal cell-cell adhesion in the cornified cell layers. |
| EMP2 | Epithelial membrane protein 2 | Functions as a key regulator of cell membrane composition by regulating protein surface expression. |
| FGFR1 | Fibroblast growth factor receptor 1 | Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of embryonic development, cell proliferation, differentiation and migration. |
| FLNB | Filamin-B | Connects cell membrane constituents to the actin cytoskeleton. |
| FXR1 | RNA-binding protein FXR1 | mRNA-binding protein that acts as a regulator of mRNAs translation and/or stability, and which is required for various processes, such as neurogenesis, muscle development and spermatogenesis. |
| KCNK5 | Potassium channel subfamily K member 5 | K(+) channel that conducts voltage-dependent outward rectifying currents upon membrane depolarization. |
| ABCG1 | ATP-binding cassette sub-family G member 1 | Catalyzes the efflux of phospholipids such as sphingomyelin, cholesterol and its oxygenated derivatives like 7beta-hydroxycholesterol and this transport is coupled to hydrolysis of ATP. |
| NUCLEOLIN | Nucleolin | Nucleolin is the major nucleolar protein of growing eukaryotic cells. |
| NRG3 | Pro-neuregulin-3, membrane-bound isoform | Direct ligand for the ERBB4 tyrosine kinase receptor. |
| PDE6D | Retinal rod rhodopsin-sensitive cGMP 3’,5’-cyclic phosphodiesterase subunit delta | Promotes the release of prenylated target proteins from cellular membranes. |
| PTMA | Prothymosin alpha | Prothymosin alpha may mediate immune function by conferring resistance to certain opportunistic infections. |
| RASGRF2 | Ras-specific guanine nucleotide-releasing factor 2 | Functions as a calcium-regulated nucleotide exchange factor activating both Ras and RAC1 through the exchange of bound GDP for GTP. |
Protein-family classification
Druggable: 13 · Difficult: 4 · Unknown: 18 · Druggable fraction: 0.37
Family distribution
Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.
| Family | Genes | Fold | FDR |
|---|---|---|---|
| Ion channel | 3 | 9.6× | 0.038 |
| Complement | 2 | 15.3× | 0.038 |
| Kinase | 3 | 2.4× | 0.437 |
| Phosphatase | 1 | 2.4× | 0.607 |
| Transporter | 1 | 2.2× | 0.607 |
| Antibody/Immunoglobulin | 2 | 1.7× | 0.607 |
| Scaffold/PPI | 2 | 1.0× | 0.870 |
| Other/Unknown | 18 | 0.9× | 0.946 |
| Transcription factor | 2 | 0.5× | 0.953 |
| Enzyme (other) | 1 | 0.3× | 0.953 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| RYR2 | Ion channel | yes | RIH_dom, B30.2/SPRY, EF_hand_dom | |
| CCL20 | Other/Unknown | no | Chemokine_CC_CS, Chemokine_IL8-like_dom, Chemokine_CC_DCCL | |
| SET | Other/Unknown | no | NAP, NAP-like_sf | |
| CRNN | Other/Unknown | no | EF_hand_dom, EF-hand-dom_pair, S100_Ca-bd_sub | |
| ATP8A2 | Transcription factor | no | 7.6.2.1 | P_typ_ATPase, P-type_ATPase_IV, ATPase_P-typ_transduc_dom_A_sf |
| ATOH7 | Transcription factor | no | bHLH_dom, ATOH7_bHLH, HLH_DNA-bd_sf | |
| CSMD1 | Complement | yes | Sushi_SCR_CCP_dom, CUB_dom, Sperma_CUB_dom_sf | |
| MACROD2 | Enzyme (other) | yes | 3.1.1.106 | Macro_dom, Macro_dom-like |
| CADM3 | Antibody/Immunoglobulin | yes | Neurexin-like, Ig_sub2, Ig_sub | |
| PKN3 | Kinase | yes | Prot_kinase_dom, AGC-kinase_C, Ser/Thr_kinase_AS | |
| NALCN | Ion channel | yes | Ion_trans_dom, Volt_channel_dom_sf, NALCN | |
| ZDHHC12 | Other/Unknown | no | Palmitoyltrfase_DHHC, PFA4/ZDH16/20/ERF2-like | |
| CAMK1D | Kinase | yes | 2.7.11.17 | Prot_kinase_dom, Ser/Thr_kinase_AS, Kinase-like_dom_sf |
| SOX2-OT | Other/Unknown | no | ||
| SAYSD1 | Other/Unknown | no | SAYSvFN_dom, SAYSD1 | |
| C4orf17 | Other/Unknown | no | TBATA-like | |
| ADH7 | Other/Unknown | no | ADH_Zn_CS, GroES-like_sf, ADH-like_C | |
| TEKT5 | Other/Unknown | no | Tektins, Tektin-like | |
| GADL1 | Other/Unknown | no | PyrdxlP-dep_de-COase, PyrdxlP-dep_Trfase_major, PyrdxlP-dep_Trfase | |
| DYNC2I2 | Scaffold/PPI | no | WD40_rpt, WD40/YVTN_repeat-like_dom_sf, WD40_repeat_dom_sf | |
| DNASE1L3 | Phosphatase | yes | Endo/exonuclease/phosphatase, DNase_I, Deoxyribonuclease-1_AS | |
| SPHKAP | Other/Unknown | no | SPHK1-interactor_AKAP_110, AKAP_110_C | |
| ZER1 | Other/Unknown | no | Armadillo, ARM-like, ARM-type_fold | |
| FLG2 | Other/Unknown | no | S100/CaBP7/8-like_CS, EF_hand_dom, Filaggrin | |
| EMP2 | Other/Unknown | no | EMP-2, PMP22/EMP/MP20/Claudin, PMP22_EMP_MP20 | |
| FGFR1 | Kinase | yes | 2.7.10.1 | Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom, Ig_sub2 |
| FLNB | Antibody/Immunoglobulin | yes | Filamin/ABP280_rpt, Actinin_actin-bd_CS, CH_dom | |
| FXR1 | Complement | yes | KH_dom, KH_dom_type_1, Agenet-like_dom | |
| KCNK5 | Ion channel | yes | 2pore_dom_K_chnl_TASK, 2pore_dom_K_chnl, K_chnl_dom | |
| ABCG1 | Transporter | yes | ABC_transporter-like_ATP-bd, AAA+_ATPase, Pigment_permease/Abcg | |
| NUCLEOLIN | Other/Unknown | no | RRM_dom, RRM_euk-type, Nucleotide-bd_a/b_plait_sf | |
| NRG3 | Other/Unknown | no | EGF, Neuregulin | |
| PDE6D | Other/Unknown | no | PDED_dom, Ig_E-set, Rhodop-sen_GMP-Pdiesterase_dsu | |
| PTMA | Other/Unknown | no | Pro/parathymosin | |
| RASGRF2 | Scaffold/PPI | no | DH_dom, Ras-like_Gua-exchang_fac_N, PH_domain |
Expression context
Cohort genes with no expression data: 0.
33 cohort genes are a single-cell marker in ≥1 SCXA experiment.
Breadth distribution (Bgee present_calls)
| Bucket | Genes |
|---|---|
| narrow (1-5 tissues) | 0 |
| moderate (6-20) | 0 |
| broad (>20) | 35 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| middle temporal gyrus | 6 |
| Brodmann (1909) area 23 | 4 |
| left ventricle myocardium | 3 |
| calcaneal tendon | 3 |
| lower esophagus mucosa | 3 |
| buccal mucosa cell | 3 |
| endothelial cell | 3 |
| mucosa of transverse colon | 3 |
| left testis | 3 |
| right testis | 3 |
| myocardium | 2 |
| ganglionic eminence | 2 |
| Brodmann (1909) area 9 | 2 |
| male germ line stem cell (sensu Vertebrata) in testis | 2 |
| prefrontal cortex | 2 |
| apex of heart | 2 |
| ventricular zone | 2 |
| corpus callosum | 2 |
| esophagus mucosa | 2 |
| sperm | 2 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| RYR2 | 210 | broad | marker | heart right ventricle, left ventricle myocardium, myocardium |
| CCL20 | 202 | broad | marker | epithelium of nasopharynx, cartilage tissue, gall bladder |
| SET | 295 | ubiquitous | marker | ganglionic eminence, endometrium epithelium, calcaneal tendon |
| CRNN | 157 | tissue_specific | marker | lower esophagus mucosa, tongue squamous epithelium, pharyngeal mucosa |
| ATP8A2 | 180 | broad | marker | middle temporal gyrus, Brodmann (1909) area 23, orbitofrontal cortex |
| ATOH7 | 104 | tissue_specific | marker | male germ line stem cell (sensu Vertebrata) in testis, prefrontal cortex, Brodmann (1909) area 9 |
| CSMD1 | 179 | broad | marker | Brodmann (1909) area 23, middle temporal gyrus, primary visual cortex |
| MACROD2 | 214 | ubiquitous | marker | endothelial cell, buccal mucosa cell, epithelial cell of pancreas |
| CADM3 | 218 | broad | marker | cerebellar hemisphere, right hemisphere of cerebellum, cerebellar cortex |
| PKN3 | 175 | ubiquitous | marker | apex of heart, ventricular zone, right lung |
| NALCN | 201 | ubiquitous | marker | middle temporal gyrus, Brodmann (1909) area 23, corpus callosum |
| ZDHHC12 | 177 | ubiquitous | marker | mucosa of transverse colon, lower esophagus mucosa, esophagus mucosa |
| CAMK1D | 260 | ubiquitous | marker | middle temporal gyrus, parietal lobe, postcentral gyrus |
| SOX2-OT | 186 | broad | marker | corpus callosum, subthalamic nucleus, inferior vagus X ganglion |
| SAYSD1 | 256 | ubiquitous | marker | left testis, right testis, sperm |
| C4orf17 | 28 | tissue_specific | marker | left ventricle myocardium, kidney epithelium, nasal cavity epithelium |
| ADH7 | 149 | tissue_specific | marker | lower esophagus mucosa, esophagus mucosa, olfactory segment of nasal mucosa |
| TEKT5 | 151 | tissue_specific | yes | left testis, right testis, male germ line stem cell (sensu Vertebrata) in testis |
| GADL1 | 79 | tissue_specific | marker | buccal mucosa cell, germinal epithelium of ovary, hindlimb stylopod muscle |
| DYNC2I2 | 238 | ubiquitous | marker | right uterine tube, pancreatic ductal cell, apex of heart |
| DNASE1L3 | 228 | broad | marker | periodontal ligament, spleen, gingival epithelium |
| SPHKAP | 127 | tissue_specific | marker | left ventricle myocardium, cardiac muscle of right atrium, myocardium |
| ZER1 | 253 | ubiquitous | marker | right frontal lobe, prefrontal cortex, Brodmann (1909) area 9 |
| FLG2 | 122 | tissue_specific | yes | upper leg skin, skin of hip, penis |
| EMP2 | 273 | ubiquitous | marker | upper leg skin, upper arm skin, lower lobe of lung |
| FGFR1 | 292 | ubiquitous | marker | buccal mucosa cell, stromal cell of endometrium, calcaneal tendon |
| FLNB | 290 | ubiquitous | marker | mucosa of transverse colon, tibial nerve, transverse colon |
| FXR1 | 299 | ubiquitous | marker | sperm, hindlimb stylopod muscle, gastrocnemius |
| KCNK5 | 213 | broad | marker | pancreatic ductal cell, mucosa of transverse colon, ileal mucosa |
| ABCG1 | 270 | ubiquitous | marker | right adrenal gland, left adrenal gland, right adrenal gland cortex |
Protein interactions among cohort
Intra-cohort edges: 2.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| NUCLEOLIN | 5,960 |
| FGFR1 | 5,693 |
| FXR1 | 4,128 |
| CCL20 | 2,937 |
| FLNB | 2,927 |
| SET | 2,822 |
| RYR2 | 2,653 |
| FLG2 | 2,574 |
| ABCG1 | 2,178 |
| CAMK1D | 2,071 |
Intra-cohort edges
| A | B | Sources |
|---|---|---|
| ADH7 | C4orf17 | string_interaction |
| PTMA | SET | intact |
Structural data
PDB: 19 · AlphaFold-only: 15 · No structure: 1
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| FGFR1 | P11362 | 83 |
| PDE6D | O43924 | 40 |
| RYR2 | Q92736 | 26 |
| FLNB | O75369 | 23 |
| CAMK1D | Q8IU85 | 7 |
| CCL20 | P78556 | 6 |
| ZER1 | Q7Z7L7 | 6 |
| NALCN | Q8IZF0 | 5 |
| ABCG1 | P45844 | 5 |
| MACROD2 | A1Z1Q3 | 4 |
| DYNC2I2 | Q96EX3 | 4 |
| NUCLEOLIN | P19338 | 4 |
| SET | Q01105 | 3 |
| ADH7 | P40394 | 3 |
| FXR1 | P51114 | 3 |
| PTMA | P06454 | 2 |
| CSMD1 | Q96PZ7 | 1 |
| CADM3 | Q8N126 | 1 |
| DNASE1L3 | Q13609 | 1 |
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| EMP2 | P54851 | 94.89 |
| GADL1 | Q6ZQY3 | 94.77 |
| ZDHHC12 | Q96GR4 | 88.17 |
| TEKT5 | Q96M29 | 85.96 |
| ATP8A2 | Q9NTI2 | 81.12 |
| PKN3 | Q6P5Z2 | 75.11 |
| RASGRF2 | O14827 | 73.97 |
| ATOH7 | Q8N100 | 72.79 |
| KCNK5 | O95279 | 69.94 |
| SAYSD1 | Q9NPB0 | 66.34 |
| C4orf17 | Q53FE4 | 56.75 |
| NRG3 | P56975 | 50.59 |
| CRNN | Q9UBG3 | 49.45 |
| SPHKAP | Q2M3C7 | 47.68 |
| FLG2 | Q5D862 | 33.09 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 101. Enrichment computed across 35 evidence-associated genes (20 with Reactome annotation).
Pathways by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 20 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| Signaling by FGFR1 amplification mutants | 1 | 285.5× | 0.091 | FGFR1 |
| ARL13B-mediated ciliary trafficking of INPP5E | 1 | 190.3× | 0.091 | PDE6D |
| FGFR1c and Klotho ligand binding and activation | 1 | 142.8× | 0.091 | FGFR1 |
| Signaling by plasma membrane FGFR1 fusions | 1 | 142.8× | 0.091 | FGFR1 |
| Nectin/Necl trans heterodimerization | 1 | 71.4× | 0.091 | CADM3 |
| Epithelial-Mesenchymal Transition (EMT) during gastrulation | 1 | 71.4× | 0.091 | FGFR1 |
| Assembly and Release of Dengue Virus Virions | 1 | 71.4× | 0.091 | NUCLEOLIN |
| FGFR1b ligand binding and activation | 1 | 63.4× | 0.091 | FGFR1 |
| HuR (ELAVL1) binds and stabilizes mRNA | 1 | 63.4× | 0.091 | SET |
| HDL remodeling | 1 | 57.1× | 0.091 | ABCG1 |
| PI3K events in ERBB4 signaling | 1 | 51.9× | 0.091 | NRG3 |
| Aspartate and asparagine metabolism | 1 | 51.9× | 0.091 | GADL1 |
| Degradation of cysteine and homocysteine | 1 | 47.6× | 0.091 | GADL1 |
| Signaling by activated point mutants of FGFR1 | 1 | 47.6× | 0.091 | FGFR1 |
| Ethanol oxidation | 1 | 47.6× | 0.091 | ADH7 |
| ERBB2 Activates PTK6 Signaling | 1 | 40.8× | 0.091 | NRG3 |
| FGFR1c ligand binding and activation | 1 | 38.1× | 0.091 | FGFR1 |
| Regulation of mRNA stability by proteins that bind AU-rich elements | 1 | 38.1× | 0.091 | SET |
| SHC1 events in ERBB4 signaling | 1 | 35.7× | 0.091 | NRG3 |
| Fatty acids | 1 | 35.7× | 0.091 | ADH7 |
| ERBB2 Regulates Cell Motility | 1 | 35.7× | 0.091 | NRG3 |
| PI3K events in ERBB2 signaling | 1 | 33.6× | 0.091 | NRG3 |
| Phospholipase C-mediated cascade: FGFR1 | 1 | 33.6× | 0.091 | FGFR1 |
| GRB2 events in ERBB2 signaling | 1 | 31.7× | 0.091 | NRG3 |
| ABC transporters in lipid homeostasis | 1 | 30.1× | 0.091 | ABCG1 |
| Phase 4 - resting membrane potential | 1 | 30.1× | 0.091 | KCNK5 |
| Ras activation upon Ca2+ influx through NMDA receptor | 1 | 28.6× | 0.091 | RASGRF2 |
| Downstream signaling of activated FGFR1 | 1 | 27.2× | 0.091 | FGFR1 |
| Signal transduction by L1 | 1 | 25.9× | 0.091 | FGFR1 |
| PI-3K cascade:FGFR1 | 1 | 25.9× | 0.091 | FGFR1 |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 32 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| involuntary skeletal muscle contraction | 1 | 526.6× | 0.048 | ATP8A2 |
| chemorepulsion involved in interneuron migration from the subpallium to the cortex | 1 | 526.6× | 0.048 | NRG3 |
| regulation of granulocyte chemotaxis | 1 | 526.6× | 0.048 | CAMK1D |
| establishment of protein localization to endoplasmic reticulum | 1 | 526.6× | 0.048 | RYR2 |
| positive regulation of retinal ganglion cell axon guidance | 1 | 526.6× | 0.048 | ATOH7 |
| programmed cell death involved in cell development | 1 | 263.3× | 0.048 | DNASE1L3 |
| plasma membrane raft assembly | 1 | 263.3× | 0.048 | EMP2 |
| vitamin D3 metabolic process | 1 | 263.3× | 0.048 | FGFR1 |
| regulation of neutrophil mediated cytotoxicity | 1 | 263.3× | 0.048 | DNASE1L3 |
| Purkinje myocyte to ventricular cardiac muscle cell signaling | 1 | 263.3× | 0.048 | RYR2 |
| aminophospholipid translocation | 1 | 263.3× | 0.048 | ATP8A2 |
| positive regulation of mitotic cell cycle DNA replication | 1 | 263.3× | 0.048 | FGFR1 |
| positive regulation of parathyroid hormone secretion | 1 | 263.3× | 0.048 | FGFR1 |
| regulation of extrinsic apoptotic signaling pathway in absence of ligand | 1 | 263.3× | 0.048 | FGFR1 |
| regulation of phosphate transport | 1 | 175.5× | 0.048 | FGFR1 |
| glycoprotein transport | 1 | 175.5× | 0.048 | ABCG1 |
| fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development | 1 | 175.5× | 0.048 | FGFR1 |
| oviduct epithelium development | 1 | 175.5× | 0.048 | CSMD1 |
| purine nucleoside metabolic process | 1 | 175.5× | 0.048 | MACROD2 |
| regulation of lateral mesodermal cell fate specification | 1 | 175.5× | 0.048 | FGFR1 |
| mammary placode formation | 1 | 175.5× | 0.048 | NRG3 |
| actin-mediated cell contraction | 1 | 175.5× | 0.048 | EMP2 |
| cellular response to high density lipoprotein particle stimulus | 1 | 175.5× | 0.048 | ABCG1 |
| thymocyte migration | 1 | 175.5× | 0.048 | CCL20 |
| type B pancreatic cell apoptotic process | 1 | 175.5× | 0.048 | RYR2 |
| regulation of AV node cell action potential | 1 | 175.5× | 0.048 | RYR2 |
| regulation of atrial cardiac muscle cell action potential | 1 | 175.5× | 0.048 | RYR2 |
| regulation of translation at presynapse, modulating synaptic transmission | 1 | 175.5× | 0.048 | FXR1 |
| peptidyl-glutamate ADP-deribosylation | 1 | 175.5× | 0.048 | MACROD2 |
| negative regulation of mRNA catabolic process | 1 | 175.5× | 0.048 | FXR1 |
Therapeutics
Drugs indicated for this disease
0 approved, 8 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.
| Drug | Development status |
|---|---|
| Dasotraline | Phase 3 (in late-stage trials) |
| Lamotrigine | Phase 3 (in late-stage trials) |
| Liraglutide | Phase 3 (in late-stage trials) |
| Lisdexamfetamine | Phase 3 (in late-stage trials) |
| Olanzapine | Phase 3 (in late-stage trials) |
| Pramipexole | Phase 3 (in late-stage trials) |
| Solriamfetol | Phase 3 (in late-stage trials) |
| Zonisamide | Phase 3 (in late-stage trials) |
Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Acamprosate, Acipimox, Centanafadine, Erythromycin, Methylphenidate, Midomafetamine, Naloxone, Oxytocin, Samidorphan, Vortioxetine.
Drug target analysis
Approved (phase 4): 3 · Phase ≥3: 4 · Phased (≥1): 6 · Undrugged: 29
Druggability breadth: 16 of 35 evidence-associated genes (46%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Genes with an approved drug
The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.
| Symbol | Example approved molecule |
|---|---|
| CAMK1D | FEDRATINIB |
| FGFR1 | PONATINIB |
| PDE6D | VARDENAFIL |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| FGFR1 | 93 | 4 |
| CAMK1D | 25 | 4 |
| PDE6D | 8 | 4 |
| PKN3 | 3 | 3 |
| RYR2 | 1 | 2 |
| SET | 1 | 2 |
| CCL20 | 0 | 0 |
| CRNN | 0 | 0 |
| ATP8A2 | 0 | 0 |
| ATOH7 | 0 | 0 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| FEDRATINIB | 4 | CAMK1D, FGFR1 |
| RUXOLITINIB | 4 | CAMK1D |
| NERATINIB | 4 | CAMK1D |
| ENTRECTINIB | 4 | CAMK1D, FGFR1 |
| TOFACITINIB CITRATE | 4 | CAMK1D |
| TOFACITINIB | 4 | CAMK1D |
| BOSUTINIB | 4 | CAMK1D |
| UPADACITINIB | 4 | CAMK1D, FGFR1 |
| NINTEDANIB | 4 | CAMK1D, FGFR1 |
| SUNITINIB | 4 | CAMK1D, FGFR1 |
| MIDOSTAURIN | 4 | CAMK1D, FGFR1 |
| PONATINIB | 4 | FGFR1 |
| PEMIGATINIB | 4 | FGFR1 |
| TIVOZANIB | 4 | FGFR1 |
| LENVATINIB | 4 | FGFR1 |
| AXITINIB | 4 | FGFR1 |
| SORAFENIB | 4 | FGFR1, PDE6D |
| NICLOSAMIDE | 4 | FGFR1 |
| INFIGRATINIB PHOSPHATE | 4 | FGFR1 |
| INFIGRATINIB | 4 | FGFR1 |
| REGORAFENIB | 4 | FGFR1 |
| CABOZANTINIB | 4 | FGFR1 |
| CAPIVASERTIB | 4 | FGFR1 |
| VANDETANIB | 4 | FGFR1 |
| NINTEDANIB ESYLATE | 4 | FGFR1 |
| BRIGATINIB | 4 | FGFR1 |
| ERDAFITINIB | 4 | FGFR1 |
| FUTIBATINIB | 4 | FGFR1 |
| PAZOPANIB | 4 | FGFR1 |
| DASATINIB | 4 | FGFR1 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 4.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| FGFR1 | 1,465 | Binding:1428, Functional:24, ADMET:13 |
| CAMK1D | 276 | Binding:274, Functional:2 |
| PDE6D | 147 | Binding:145, ADMET:2 |
| PKN3 | 28 | Binding:28 |
| RYR2 | 15 | Binding:15 |
| ADH7 | 14 | Binding:14 |
| ZER1 | 12 | Binding:12 |
| SET | 8 | Binding:8 |
| NUCLEOLIN | 8 | Binding:8 |
| FLG2 | 6 | Binding:6 |
| FXR1 | 6 | Binding:6 |
| DNASE1L3 | 5 | Binding:5 |
| MACROD2 | 4 | Binding:2, Toxicity:2 |
| KCNK5 | 4 | Binding:4 |
| FLNB | 2 | Binding:2 |
| PTMA | 1 | Binding:1 |
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|---|---|
| ATP8A2 | 7.6.2.1 | P-type phospholipid transporter |
| MACROD2 | 3.1.1.106 | O-acetyl-ADP-ribose deacetylase |
| CAMK1D | 2.7.11.17 | Ca2+/calmodulin-dependent protein kinase |
| FGFR1 | 2.7.10.1 | receptor protein-tyrosine kinase |
Cohort genes with high screening signal
≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.
| Symbol | ChEMBL assays |
|---|---|
| CAMK1D | 276 |
| FGFR1 | 1,465 |
| PDE6D | 147 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 35; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Chemical tractability of cohort targets
30 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.
| Compound | Max phase | Cohort target (bioactivity) |
|---|---|---|
| FEDRATINIB | 4 | CAMK1D, FGFR1 |
| RUXOLITINIB | 4 | CAMK1D |
| NERATINIB | 4 | CAMK1D |
| ENTRECTINIB | 4 | CAMK1D, FGFR1 |
| TOFACITINIB CITRATE | 4 | CAMK1D |
| TOFACITINIB | 4 | CAMK1D |
| BOSUTINIB | 4 | CAMK1D |
| UPADACITINIB | 4 | CAMK1D, FGFR1 |
| NINTEDANIB | 4 | CAMK1D, FGFR1 |
| SUNITINIB | 4 | CAMK1D, FGFR1 |
| MIDOSTAURIN | 4 | CAMK1D, FGFR1 |
| PONATINIB | 4 | FGFR1 |
| PEMIGATINIB | 4 | FGFR1 |
| TIVOZANIB | 4 | FGFR1 |
| LENVATINIB | 4 | FGFR1 |
| AXITINIB | 4 | FGFR1 |
| SORAFENIB | 4 | FGFR1, PDE6D |
| NICLOSAMIDE | 4 | FGFR1 |
| INFIGRATINIB PHOSPHATE | 4 | FGFR1 |
| INFIGRATINIB | 4 | FGFR1 |
| REGORAFENIB | 4 | FGFR1 |
| CABOZANTINIB | 4 | FGFR1 |
| CAPIVASERTIB | 4 | FGFR1 |
| VANDETANIB | 4 | FGFR1 |
| NINTEDANIB ESYLATE | 4 | FGFR1 |
| BRIGATINIB | 4 | FGFR1 |
| ERDAFITINIB | 4 | FGFR1 |
| FUTIBATINIB | 4 | FGFR1 |
| PAZOPANIB | 4 | FGFR1 |
| DASATINIB | 4 | FGFR1 |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 3 | CAMK1D, FGFR1, PDE6D |
| B | Phased (≥1) drug, not yet approved | 3 | RYR2, SET, PKN3 |
| C | Druggable family + PDB, no drug | 8 | CSMD1, MACROD2, CADM3, NALCN, DNASE1L3, FLNB, FXR1, ABCG1 |
| D | Druggable family + AlphaFold only, no drug | 1 | KCNK5 |
| E | Difficult family or no structure, no drug | 20 | CCL20, CRNN, ATP8A2, ATOH7, ZDHHC12, SOX2-OT, SAYSD1, C4orf17, ADH7, TEKT5 (+10 more) |
Undrugged target profiles
29 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| CCL20 | 0 | — |
| CRNN | 0 | — |
| ATP8A2 | 0 | — |
| ATOH7 | 0 | — |
| CSMD1 | 0 | — |
| MACROD2 | 4 | — |
| CADM3 | 0 | — |
| NALCN | 0 | — |
| ZDHHC12 | 0 | — |
| SOX2-OT | 0 | — |
| SAYSD1 | 0 | — |
| C4orf17 | 0 | — |
| ADH7 | 14 | — |
| TEKT5 | 0 | — |
| GADL1 | 0 | — |
| DYNC2I2 | 0 | — |
| DNASE1L3 | 5 | — |
| SPHKAP | 0 | — |
| ZER1 | 12 | — |
| FLG2 | 6 | — |
| EMP2 | 0 | — |
| FLNB | 2 | — |
| FXR1 | 6 | — |
| KCNK5 | 4 | — |
| ABCG1 | 0 | — |
| NUCLEOLIN | 8 | — |
| NRG3 | 0 | — |
| PTMA | 1 | — |
| RASGRF2 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 404.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 369 |
| PHASE2 | 10 |
| PHASE1 | 9 |
| PHASE4 | 6 |
| PHASE3 | 5 |
| EARLY_PHASE1 | 3 |
| PHASE2/PHASE3 | 1 |
| PHASE1/PHASE2 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00000448 | PHASE4 | COMPLETED | Naltrexone Treatment for Alcoholic Women |
| NCT00060762 | PHASE4 | COMPLETED | Effectiveness of Binge Eating Disorder Treatments |
| NCT00288574 | PHASE4 | COMPLETED | Fluoxetine to Prevent Relapse and Enhance Psychological Recovery in Women With Anorexia Nervosa |
| NCT00685334 | PHASE4 | COMPLETED | Effectiveness of Atypical Antipsychotic Medication for Outpatients With Anorexia Nervosa |
| NCT01493674 | PHASE4 | COMPLETED | Folic Acid Supplementation in Eating Disorder |
| NCT02020408 | PHASE4 | COMPLETED | Monoamine Contributions to Neurocircuitry in Eating Disorders |
| NCT00481975 | PHASE3 | COMPLETED | Efficacy and Safety of Rimonabant on Weight Loss and Frequency of Binge Episodes in Obese Patients |
| NCT01184443 | PHASE3 | TERMINATED | Evaluation of the Efficacy and Safety of Olanzapine for Anorexia Nervosa in Children and Adolescents |
| NCT03292146 | PHASE3 | COMPLETED | Effects of Denosumab on Bone Mineral Density in Women With Anorexia Nervosa: A Pilot Study |
| NCT03911674 | PHASE3 | COMPLETED | Effects of Oral Stimulation in Preterm Infants |
| NCT04779216 | PHASE3 | COMPLETED | Effects of Romosozumab on Bone Density in Women With Anorexia Nervosa |
| NCT05073679 | PHASE2/PHASE3 | TERMINATED | Oral Naltrexone In Pediatric Eating Disorders |
| NCT03338387 | PHASE2 | ENROLLING_BY_INVITATION | Co-Feedback Action of Growth Hormone, PP and PYY on Ghrelin in Bulimia |
| NCT03740204 | PHASE2 | ACTIVE_NOT_RECRUITING | The Role of Estrogen in the Neurobiology of Eating Disorders |
| NCT07218302 | PHASE2 | NOT_YET_RECRUITING | Eating Disorder Chatbot Optimization |
| NCT00183586 | PHASE2 | COMPLETED | Comparing the Effectiveness of Three Types of Therapy for the Treatment of Anorexia Nervosa in Adolescents |
| NCT00283595 | PHASE2 | COMPLETED | Effect of Growth Hormone on Bone Metabolism in Anorexia Nervosa |
| NCT00304187 | PHASE2 | COMPLETED | Effectiveness of Antibiotic Treatment for Reducing Binge Eating and Improving Digestive Function in Bulimia Nervosa |
| NCT00494858 | PHASE2 | COMPLETED | Focused Versus Enhanced Cognitive Behavioral Therapy for Treating Women With Bulimia Nervosa |
| NCT00627341 | PHASE1/PHASE2 | COMPLETED | A Relapse Prevention Program for Reducing Relapse and Fear of Food in People With Anorexia Nervosa |
| NCT00692185 | PHASE2 | COMPLETED | Effectiveness of Olanzapine Versus Placebo in Treating Outpatients With Anorexia Nervosa |
| NCT01121211 | PHASE2 | COMPLETED | Hormonal Factors in the Treatment of Anorexia Nervosa |
| NCT04278755 | PHASE2 | TERMINATED | Binge Eating & Birth Control |
| NCT06565637 | PHASE1 | RECRUITING | Targeting Minority Stressors to Improve Eating Disorder Symptoms in Sexual Minority Individuals With Eating Disorders |
| NCT00125112 | PHASE1 | COMPLETED | Internet Weight Control for Bingeing Adolescents |
| NCT00149786 | PHASE1 | COMPLETED | Effectiveness of Family-Based Versus Individual Psychotherapy in Treating Adolescents With Anorexia Nervosa |
| NCT00400933 | PHASE1 | TERMINATED | Evaluation of a Six-session Psycho-education Group Program |
| NCT00870753 | PHASE1 | UNKNOWN | Yoga in Treatment of Eating Disorders |
| NCT02284685 | PHASE1 | COMPLETED | A Novel Intervention Promoting Eating Disorder Treatment Among College Students |
| NCT03490786 | PHASE1 | COMPLETED | A Dose Escalating Study to Assess the Safety and Tolerability of GT-001 |
| NCT04636840 | PHASE1 | COMPLETED | Leveraging Social Media to Identify and Connect Teens With Eating Disorders to a Mobile Guided Self-Help Mobile Intervention |
| NCT05865288 | PHASE1 | UNKNOWN | The Moderating Role of Baseline Oxytocin on Its Psychotherapy-facilitating Effects Among Patients With Eating Disorders |
| NCT05509257 | EARLY_PHASE1 | RECRUITING | Naltrexone Neuroimaging in Teens With Eating Disorders |
| NCT04686864 | EARLY_PHASE1 | COMPLETED | A Virtual Parent-led Support Group for Parents of Children and Youth With Eating Disorders: A Mixed Methods Feasibility Study Examining Acceptability, Cost and Parent Outcomes |
| NCT04935931 | EARLY_PHASE1 | COMPLETED | Naltrexone Neuroimaging |
| NCT01075672 | Not specified | ACTIVE_NOT_RECRUITING | Outcomes of Cognitive Behavioral Therapy (CBT) Interventions Provided by Unlicensed Professionals |
| NCT02601495 | Not specified | ACTIVE_NOT_RECRUITING | Latent Structure of Multi-level Assessments and Predictors of Outcomes for Women in Recovery |
| NCT03393039 | Not specified | ACTIVE_NOT_RECRUITING | Effects of Negative Affect in Individuals With Binge Eating Episodes |
| NCT03808467 | Not specified | ACTIVE_NOT_RECRUITING | Cognitive Training for Patients With Eating Disorders |
| NCT03968705 | Not specified | ACTIVE_NOT_RECRUITING | Longstanding Eating Disorders and Personality Disorders |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| NALTREXONE | 4 | 6 |
| FLUOXETINE | 4 | 3 |
| ACIPIMOX | 4 | 1 |
| AMPHETAMINE | 4 | 1 |
| ARIPIPRAZOLE | 4 | 1 |
| BACLOFEN | 4 | 1 |
| ERYTHROMYCIN | 4 | 1 |
| FOLIC ACID | 4 | 1 |
| METYROSINE | 4 | 1 |
| OLANZAPINE | 4 | 1 |
| ORLISTAT | 4 | 1 |
| RIMONABANT | 4 | 1 |
| TESTOSTERONE | 4 | 1 |
| GLP-1 | 2 | 1 |
| PEPTIDE YY HUMAN (3-36) | 2 | 1 |
| GLUCAGON-LIKE PEPTIDE 1 | 1 | 1 |
| CHEMBL4746472 | 0 | 1 |
| CHEMBL2354678 | 0 | 1 |
| CHEMBL365190 | 0 | 1 |
| CHEMBL458622 | 0 | 1 |
Related Atlas pages
- Cohort genes: RYR2, CCL20, SET, CRNN, ATP8A2, ATOH7, CSMD1, MACROD2, CADM3, PKN3, NALCN, ZDHHC12, CAMK1D, SOX2-OT, SAYSD1, C4orf17, ADH7, TEKT5, GADL1, DYNC2I2, DNASE1L3, SPHKAP, ZER1, FLG2, EMP2, FGFR1, FLNB, FXR1, KCNK5, ABCG1, NUCLEOLIN, NRG3, PDE6D, PTMA, RASGRF2
- Drugs: Naltrexone, Fluoxetine, Acipimox, Amphetamine, Aripiprazole, Baclofen, Erythromycin, Folic Acid, Metyrosine, Olanzapine, Orlistat, Rimonabant, Testosterone