DLGAP4

gene
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Also known as DAP4KIAA0964SAPAP4

Summary

DLGAP4 (DLG associated protein 4, HGNC:24476) is a protein-coding gene on chromosome 20q11.23, encoding Disks large-associated protein 4 (Q9Y2H0). May play a role in the molecular organization of synapses and neuronal cell signaling.

The product of this gene is a membrane-associated guanylate kinase found at the postsynaptic density in neuronal cells. It is a signaling molecule that can interact with potassium channels and receptors, as well as other signaling molecules. The protein encoded by this gene can interact with PSD-95 through its guanylate kinase domain and may be involved in clustering PSD-95 in the postsynaptic density region. The encoded protein is one of at least four similar proteins that have been found. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 22839 — RefSeq curated summary.

At a glance

  • GWAS associations: 2
  • Clinical variants (ClinVar): 145 total
  • MANE Select transcript: NM_001365621

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:24476
Approved symbolDLGAP4
NameDLG associated protein 4
Location20q11.23
Locus typegene with protein product
StatusApproved
AliasesDAP4, KIAA0964, SAPAP4
Ensembl geneENSG00000080845
Ensembl biotypeprotein_coding
OMIM616191
Entrez22839

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 11 protein_coding, 6 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000339266, ENST00000340491, ENST00000373907, ENST00000373913, ENST00000475894, ENST00000477195, ENST00000478910, ENST00000479220, ENST00000479951, ENST00000482037, ENST00000482872, ENST00000489701, ENST00000491207, ENST00000495241, ENST00000497862, ENST00000917065, ENST00000917066, ENST00000953306

RefSeq mRNA: 14 — MANE Select: NM_001365621 NM_001042486, NM_001365621, NM_001388257, NM_001388260, NM_001388262, NM_001388265, NM_001388268, NM_001388271, NM_001388274, NM_001388275, NM_001388277, NM_001388278, NM_014902, NM_183006

CCDS: CCDS13274, CCDS13275, CCDS93034

Canonical transcript exons

ENST00000339266 — 13 exons

ExonStartEnd
ENSE000005205773643610936436350
ENSE000006618003644669736446937
ENSE000006618013644272736442777
ENSE000006618023643975436439868
ENSE000011467783636704536367275
ENSE000011468053643164636432716
ENSE000034712933649958836499676
ENSE000034764103652681336528633
ENSE000034883513650019936500611
ENSE000036414293652585136526006
ENSE000036648903652425036524341
ENSE000036846593649670536497066
ENSE000037342713630633936306512

Expression profiles

Bgee: expression breadth ubiquitous, 270 present calls, max score 98.48.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 59.6489 / max 495.7955, expressed in 1822 samples.

FANTOM5 promoters (18 alternative TSS)

Promoter IDTPM avgSamples expressed
18439526.94861817
18439719.87591743
1843964.35971535
1843911.5158191
1844041.1021686
1844000.8474545
1843940.8063513
1844010.6952428
1844030.5622303
1844060.5152287

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
cortical plateUBERON:000534398.48gold quality
ganglionic eminenceUBERON:000402397.66gold quality
ascending aortaUBERON:000149697.58gold quality
thoracic aortaUBERON:000151597.55gold quality
skin of legUBERON:000151197.47gold quality
aortaUBERON:000094797.31gold quality
right coronary arteryUBERON:000162597.29gold quality
descending thoracic aortaUBERON:000234597.26gold quality
popliteal arteryUBERON:000225097.24gold quality
tibial arteryUBERON:000761097.24gold quality
skin of abdomenUBERON:000141697.01gold quality
lower esophagus muscularis layerUBERON:003583396.96gold quality
lower esophagusUBERON:001347396.95gold quality
gastrocnemiusUBERON:000138896.91gold quality
left coronary arteryUBERON:000162696.73gold quality
hindlimb stylopod muscleUBERON:000425296.60gold quality
esophagogastric junction muscularis propriaUBERON:003584196.48gold quality
coronary arteryUBERON:000162196.37gold quality
right lungUBERON:000216796.34gold quality
muscle layer of sigmoid colonUBERON:003580596.21gold quality
body of uterusUBERON:000985396.19gold quality
muscle of legUBERON:000138396.16gold quality
right frontal lobeUBERON:000281096.02gold quality
stromal cell of endometriumCL:000225595.99gold quality
tibial nerveUBERON:000132395.97gold quality
endocervixUBERON:000045895.95gold quality
apex of heartUBERON:000209895.79gold quality
mucosa of stomachUBERON:000119995.78gold quality
upper lobe of left lungUBERON:000895295.66gold quality
left uterine tubeUBERON:000130395.49gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 2.

ExperimentMarker?Max mean expression
E-ANND-3yes11.50
E-MTAB-9388yes6.23
E-GEOD-93593no271.92
E-CURD-112no2.63

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

101 targeting DLGAP4, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-8485100.0077.574731
HSA-MIR-6867-5P100.0082.213464
HSA-MIR-30A-5P100.0076.313233
HSA-MIR-30B-5P100.0076.293248
HSA-MIR-30C-5P100.0076.293248
HSA-MIR-30D-5P100.0076.323233
HSA-MIR-30E-5P100.0076.323242
HSA-MIR-3064-3P100.0070.091254
HSA-MIR-450099.9972.722367
HSA-LET-7A-5P99.9872.291790
HSA-LET-7B-5P99.9872.311790
HSA-LET-7C-5P99.9872.291790
HSA-LET-7E-5P99.9872.291790
HSA-LET-7F-5P99.9872.561784
HSA-LET-7G-5P99.9872.371784
HSA-LET-7I-5P99.9872.371788
HSA-MIR-98-5P99.9872.331787
HSA-MIR-314899.9775.066478
HSA-LET-7D-5P99.9671.761632
HSA-MIR-445899.9671.641650
HSA-MIR-9983-3P99.9471.483631
HSA-MIR-6721-5P99.9368.922981
HSA-MIR-329-3P99.9166.561234
HSA-MIR-362-3P99.9166.381267
HSA-MIR-4731-5P99.8967.232537
HSA-MIR-129-5P99.8870.263273
HSA-MIR-449299.8768.253611
HSA-MIR-394199.8670.542735
HSA-MIR-4728-5P99.8569.394718
HSA-MIR-5010-3P99.8370.602357

Literature-anchored findings (GeneRIF, showing 7)

  • Shows that an homologous rat protein can interact with nArgBP2, a novel neural member of the ponsin/ArgB/vinexin family. (PMID:10521485)
  • Significant epigenetic remodelling of the DLGAP4 locus triggered by the t(8;20)(p12;q11.23) translocation and leading to dysregulation of DLGAP4 expression in affected carriers is reported. (PMID:24986922)
  • Exosomal circ_DLGAP4 promotes diabetic kidney disease progression by sponging miR-143 and targeting ERBB3/NF-kappaB/MMP-2 axis. (PMID:33230102)
  • DLGAP4 acts as an effective prognostic predictor for hepatocellular carcinoma and is closely related to tumour progression. (PMID:36396671)
  • CircDLGAP4 induces autophagy and improves endothelial cell dysfunction in atherosclerosis by targeting PTPN4 with miR-134-5p. (PMID:37615249)
  • CircDLGAP4 overexpression ameliorates neuronal injury in Parkinson’s disease by binding to EIF4A3 and increasing HMGA2 expression. (PMID:37822284)
  • Includes the identification and characterization of an homologous protein in rat. (PMID:9115257)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_reriodlgap4bENSDARG00000012823
danio_reriodlgap4aENSDARG00000060849
mus_musculusDlgap4ENSMUSG00000061689
rattus_norvegicusDlgap4ENSRNOG00000020225

Paralogs (4): DLGAP3 (ENSG00000116544), DLGAP5 (ENSG00000126787), DLGAP1 (ENSG00000170579), DLGAP2 (ENSG00000198010)

Protein

Protein identifiers

Disks large-associated protein 4Q9Y2H0 (reviewed: Q9Y2H0)

Alternative names: PSD-95/SAP90-binding protein 4, SAP90/PSD-95-associated protein 4

All UniProt accessions (5): Q9Y2H0, A0A087WWE6, A0A087X246, A0A0B4J2C2, F8WF49

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in the molecular organization of synapses and neuronal cell signaling. Could be an adapter protein linking ion channel to the subsynaptic cytoskeleton. May induce enrichment of PSD-95/SAP90 at the plasma membrane.

Subunit / interactions. Interacts with DLG1 and DLG4/PSD-95.

Subcellular location. Membrane.

Similarity. Belongs to the SAPAP family.

Isoforms (3)

UniProt IDNamesCanonical?
Q9Y2H0-21yes
Q9Y2H0-12
Q9Y2H0-33

RefSeq proteins (14): NP_001035951, NP_001352550, NP_001375186, NP_001375189, NP_001375191, NP_001375194, NP_001375197, NP_001375200, NP_001375203, NP_001375204, NP_001375206, NP_001375207, NP_055717, NP_892118 (=MANE)

Domains & families (InterPro)

IDNameType
IPR005026SAPAPFamily

Pfam: PF03359

UniProt features (40 total): modified residue 17, compositionally biased region 9, region of interest 7, splice variant 3, sequence variant 2, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9Y2H0-F150.010.10

Functional residue map

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

Post-translational modifications (17): 206, 207, 291, 378, 381, 388, 405, 415, 421, 580, 581, 609, 611, 665, 744, 915, 973

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

IDPathway
R-HSA-6794361Neurexins and neuroligins

MSigDB gene sets: 238 (showing top): FXR_IR1_Q6, SHEPARD_BMYB_MORPHOLINO_UP, GGTGTGT_MIR329, LFA1_Q6, NIKOLSKY_BREAST_CANCER_20Q11_AMPLICON, HATADA_METHYLATED_IN_LUNG_CANCER_DN, SREBP1_02, GOBP_CELL_CELL_SIGNALING, BROWNE_HCMV_INFECTION_48HR_DN, GOBP_CELL_JUNCTION_ORGANIZATION, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, FREAC3_01, OCT1_03, GGARNTKYCCA_UNKNOWN, WTGAAAT_UNKNOWN

GO Biological Process (4): signaling (GO:0023052), modulation of chemical synaptic transmission (GO:0050804), regulation of synapse maturation (GO:0090128), modification of postsynaptic structure (GO:0099010)

GO Molecular Function (2): molecular adaptor activity (GO:0060090), protein binding (GO:0005515)

GO Cellular Component (7): plasma membrane (GO:0005886), neuromuscular junction (GO:0031594), glutamatergic synapse (GO:0098978), cholinergic synapse (GO:0098981), postsynaptic specialization (GO:0099572), membrane (GO:0016020), synapse (GO:0045202)

Reactome top-level categories

Rollup of top-1 pathways:

CategoryPathways
Protein-protein interactions at synapses1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
synapse3
binding2
regulation of biological process1
chemical synaptic transmission1
regulation of trans-synaptic signaling1
regulation of developmental process1
regulation of synapse organization1
synapse maturation1
modification of synaptic structure1
molecular_function1
membrane1
cell periphery1
organelle1
postsynapse1
cellular anatomical structure1
cell junction1

Protein interactions and networks

STRING

962 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
DLGAP4SHANK3Q9BYB0744
DLGAP4DLG4P78352648
DLGAP4SHANK2Q9UPX8577
DLGAP4DLG2Q15700577
DLGAP4GRIN2AQ12879549
DLGAP4DNAH12Q6ZR08545
DLGAP4DLG3Q92796532
DLGAP4DNAH3Q8TD57505
DLGAP4MPP3Q13368480
DLGAP4GALNT17Q6IS24471
DLGAP4SHANK1Q9Y566467
DLGAP4DLGAP3O95886448
DLGAP4ATP6V0A2Q9Y487446
DLGAP4DLGAP2Q9P1A6427
DLGAP4AK1P00568418

IntAct

167 interactions, top by confidence:

ABTypeScore
KCNJ2KCNJ18psi-mi:“MI:2364”(proximity)0.660
DLGAP4BIN1psi-mi:“MI:0915”(physical association)0.630
BIN1DLGAP4psi-mi:“MI:0915”(physical association)0.630
DLGAP4DLG4psi-mi:“MI:0915”(physical association)0.590
DLGAP4LIN7Apsi-mi:“MI:0914”(association)0.590
DLGAP4CASKpsi-mi:“MI:0407”(direct interaction)0.590
DLGAP4DLG1psi-mi:“MI:0407”(direct interaction)0.590
DLGAP4DLG3psi-mi:“MI:0407”(direct interaction)0.590
DLGAP4DLG4psi-mi:“MI:0407”(direct interaction)0.590
DLGAP4LIN7Apsi-mi:“MI:0407”(direct interaction)0.590
DLGAP4LIN7Cpsi-mi:“MI:0407”(direct interaction)0.590
MAGI3DLGAP4psi-mi:“MI:0407”(direct interaction)0.590
DLGAP4MPP7psi-mi:“MI:0407”(direct interaction)0.590
ZAR1LBCL2L11psi-mi:“MI:0914”(association)0.530
NRASESYT2psi-mi:“MI:2364”(proximity)0.480
DLGAP4MAST2psi-mi:“MI:0407”(direct interaction)0.440
DLGAP4SHANK1psi-mi:“MI:0407”(direct interaction)0.440
DLGAP4SNX27psi-mi:“MI:0407”(direct interaction)0.440
SCRIBDLGAP4psi-mi:“MI:0407”(direct interaction)0.440
DLGAP4PDZK1psi-mi:“MI:0407”(direct interaction)0.440
DLGAP4MAST1psi-mi:“MI:0407”(direct interaction)0.440
DLGAP4NHERF2psi-mi:“MI:0407”(direct interaction)0.440

BioGRID (89): BIN1 (Protein-peptide), DLGAP4 (Reconstituted Complex), DLGAP4 (Two-hybrid), DLGAP4 (Affinity Capture-RNA), DLGAP4 (Affinity Capture-RNA), DLGAP4 (Affinity Capture-MS), DLGAP4 (Affinity Capture-MS), DLGAP4 (Affinity Capture-MS), DLGAP4 (Affinity Capture-MS), DLGAP4 (Affinity Capture-MS), DLGAP4 (Affinity Capture-MS), DLGAP4 (Affinity Capture-MS), DLGAP4 (Affinity Capture-RNA), DLGAP4 (Proximity Label-MS), DLGAP4 (Proximity Label-MS)

ESM2 similar proteins: A0A1L8ER70, A1L253, A2AHC3, A5WUN7, B1AZP2, D4AEC2, O14490, P28290, P62024, P97836, P97839, Q148W8, Q14CH0, Q2KI52, Q2M3X8, Q3ZBW7, Q4KM62, Q4R2Y2, Q4R707, Q52KF3, Q5PQL8, Q5R3Z9, Q5RD34, Q5RJX2, Q5VUB5, Q5VZP5, Q5XII9, Q6GLU8, Q6NSV7, Q6P995, Q6PEI3, Q6RFY2, Q7T3E8, Q8BJ42, Q8BYK5, Q8C1B1, Q922B9, Q95X94, Q96BN6, Q96KR7

Diamond homologs: B1AZP2, O14490, O95886, P97836, P97837, P97838, P97839, Q15398, Q6PFD5, Q7K3L1, Q7ZYZ6, Q8BJ42, Q8K4R9, Q9D415, Q9P1A6, Q9Y2H0

SIGNOR signaling

4 interactions.

AEffectBMechanism
DLGAP4“up-regulates activity”DLG4binding
DLGAP4“up-regulates activity”SHANK1relocalization
DLGAP4“up-regulates activity”SHANK2relocalization
DLGAP4“up-regulates activity”SHANK3relocalization

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 117 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

PathwayPartnersFoldFDR
Ras activation upon Ca2+ influx through NMDA receptor750.0×1e-08
Signaling by ERBB2 ECD mutants542.0×7e-06
Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants638.9×1e-06
Long-term potentiation635.7×1e-06
Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants535.7×1e-05
Unblocking of NMDA receptors, glutamate binding and activation534.0×2e-05
Negative regulation of NMDA receptor-mediated neuronal transmission534.0×2e-05
Downstream signal transduction733.3×2e-07

GO biological processes:

GO termPartnersFoldFDR
establishment or maintenance of epithelial cell apical/basal polarity1051.9×2e-12
protein localization to synapse641.0×1e-06
receptor clustering739.0×2e-07
regulation of postsynaptic membrane neurotransmitter receptor levels731.0×7e-07
positive regulation of Rac protein signal transduction528.9×7e-05
ephrin receptor signaling pathway515.3×1e-03
Ras protein signal transduction611.0×1e-03
cell-cell adhesion1110.0×2e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance117
Likely benign11
Benign3

Top pathogenic / likely-pathogenic (0)

SpliceAI

3807 predictions. Top by Δscore:

VariantEffectΔscore
20:36432714:CAGGT:Cdonor_loss1.0000
20:36432715:AGGT:Adonor_loss1.0000
20:36432716:GG:Gdonor_loss1.0000
20:36432718:T:Adonor_loss1.0000
20:36436349:AG:Adonor_loss1.0000
20:36436350:GG:Gdonor_loss1.0000
20:36436351:G:GAdonor_loss1.0000
20:36436352:T:Gdonor_loss1.0000
20:36439742:A:AGacceptor_gain1.0000
20:36439750:CCA:Cacceptor_loss1.0000
20:36439751:CAG:Cacceptor_loss1.0000
20:36439752:A:ACacceptor_loss1.0000
20:36439753:G:GTacceptor_gain1.0000
20:36439753:GGA:Gacceptor_gain1.0000
20:36439864:GCCAG:Gdonor_gain1.0000
20:36439866:CAGG:Cdonor_loss1.0000
20:36439868:GGTGA:Gdonor_loss1.0000
20:36446936:GA:Gdonor_gain1.0000
20:36496700:TGCA:Tacceptor_loss1.0000
20:36496701:GCAG:Gacceptor_loss1.0000
20:36496702:CA:Cacceptor_loss1.0000
20:36497067:G:GGdonor_gain1.0000
20:36500197:A:AGacceptor_gain1.0000
20:36500198:G:GGacceptor_gain1.0000
20:36500608:GAAG:Gdonor_gain1.0000
20:36500610:AGG:Adonor_loss1.0000
20:36500612:GTGG:Gdonor_loss1.0000
20:36524240:T:Aacceptor_gain1.0000
20:36524248:A:AGacceptor_gain1.0000
20:36524249:G:GGacceptor_gain1.0000

AlphaMissense

6493 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
20:36500510:G:AG804D1.000
20:36500518:T:CF807L1.000
20:36500519:T:CF807S1.000
20:36500520:C:AF807L1.000
20:36500520:C:GF807L1.000
20:36500528:T:CL810P1.000
20:36500531:T:CL811P1.000
20:36500560:T:AW821R1.000
20:36500560:T:CW821R1.000
20:36524283:C:AA849D1.000
20:36524292:T:CL852P1.000
20:36524316:T:CF860S1.000
20:36524328:G:AC864Y1.000
20:36524329:T:GC864W1.000
20:36525888:T:CL881P1.000
20:36525899:T:AW885R1.000
20:36525899:T:CW885R1.000
20:36525901:G:CW885C1.000
20:36525901:G:TW885C1.000
20:36525906:T:CL887P1.000
20:36525909:T:CL888P1.000
20:36525915:T:CL890P1.000
20:36525941:T:CF899L1.000
20:36525942:T:CF899S1.000
20:36525943:C:AF899L1.000
20:36525943:C:GF899L1.000
20:36525951:T:CL902P1.000
20:36525974:T:AW910R1.000
20:36525974:T:CW910R1.000
20:36525976:G:CW910C1.000

dbSNP variants (sampled 300 via entrez): RS1000007088 (20:36527805 C>A,G), RS1000029234 (20:36469772 T>A,C,G), RS1000033870 (20:36517010 C>T), RS1000043422 (20:36391209 G>A,T), RS1000087985 (20:36407434 G>A,T), RS1000095205 (20:36479780 G>A), RS1000110905 (20:36321178 G>T), RS1000115364 (20:36523134 G>A), RS1000125538 (20:36458042 G>A,C), RS1000148041 (20:36435056 C>G), RS1000224257 (20:36324559 C>T), RS1000237280 (20:36388387 C>T), RS1000245325 (20:36420965 ACT>A), RS1000246098 (20:36528145 T>C), RS1000255164 (20:36417569 C>T)

Disease associations

OMIM: gene MIM:616191 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

StudyTraitp-value
GCST010152_5Neuroblastoma or malignant cutaneous melanoma6.000000e-06
GCST010204_77Low density lipoprotein cholesterol levels4.000000e-21

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0004611low density lipoprotein cholesterol measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
sodium arseniteincreases expression, decreases expression, increases abundance3
bisphenol Aaffects expression, decreases expression2
Acetaminophenincreases expression2
Arsenicaffects methylation, decreases expression, increases abundance2
Estradiolaffects cotreatment, increases expression, decreases expression2
Cyclosporineincreases expression2
FR900359affects phosphorylation1
bisphenol Fdecreases expression, affects cotreatment1
dicrotophosincreases expression1
methylmercuric chlorideincreases expression1
triphenyl phosphateaffects expression1
kojic acidincreases expression1
cobaltous chlorideincreases expression1
benzo(e)pyreneaffects methylation1
aflatoxin B2increases methylation1
beta-methylcholineaffects expression1
CGP 52608affects binding, increases reaction1
2,2’,4,4’-tetrabromodiphenyl etherincreases expression1
bisphenol Saffects cotreatment, decreases expression1
(+)-JQ1 compoundincreases expression1
Resveratrolaffects cotreatment, decreases expression1
Temozolomidedecreases expression1
Sunitinibincreases expression1
Zoledronic Aciddecreases expression1
Arsenic Trioxidedecreases expression1
Vorinostatdecreases expression1
Arbutinincreases expression1
Atrazineincreases expression1
Benzo(a)pyreneaffects methylation1
Cadmiumdecreases expression, increases abundance1

Clinical trials (associated diseases)

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

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): neuroblastoma