PAX5 (paired box 5)

Gene

• Entrez ID: 5079
• Gene name: Paired box 5
• Gene symbol: PAX5
• Synonyms (NCBI Gene): ALL3, BSAP, PAX-5
• Chromosome: 9
• Chromosome location: 9p13.2
• Summary: This gene encodes a member of the paired box (PAX) family of transcription factors. The central feature of this gene family is a novel, highly conserved DNA-binding motif, known as the paired box. Paired box transcription factors are important regulators

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT614883	hsa-miR-153-5p	HITS-CLIP	19536157
MIRT614877	hsa-miR-1305	HITS-CLIP	19536157
MIRT614876	hsa-miR-335-3p	HITS-CLIP	19536157
MIRT555835	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT555834	hsa-miR-4666a-5p	HITS-CLIP	21572407
MIRT555833	hsa-miR-4455	HITS-CLIP	21572407
MIRT555832	hsa-miR-574-5p	HITS-CLIP	21572407
MIRT555835	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT555834	hsa-miR-4666a-5p	HITS-CLIP	23824327
MIRT555833	hsa-miR-4455	HITS-CLIP	23824327
MIRT555832	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT555833	hsa-miR-4455	HITS-CLIP	23824327
MIRT555835	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT555834	hsa-miR-4666a-5p	HITS-CLIP	23824327
MIRT555832	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT614883	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT614882	hsa-miR-139-3p	HITS-CLIP	23824327
MIRT614880	hsa-miR-4531	HITS-CLIP	23824327
MIRT614879	hsa-miR-1270	HITS-CLIP	23824327
MIRT614878	hsa-miR-620	HITS-CLIP	23824327
MIRT614877	hsa-miR-1305	HITS-CLIP	23824327
MIRT614876	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT614883	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT614877	hsa-miR-1305	HITS-CLIP	23824327
MIRT614876	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT555835	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT555834	hsa-miR-4666a-5p	HITS-CLIP	23824327
MIRT555833	hsa-miR-4455	HITS-CLIP	23824327
MIRT555832	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT614883	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT614882	hsa-miR-139-3p	HITS-CLIP	23824327
MIRT614880	hsa-miR-4531	HITS-CLIP	23824327
MIRT614879	hsa-miR-1270	HITS-CLIP	23824327
MIRT614878	hsa-miR-620	HITS-CLIP	23824327
MIRT614877	hsa-miR-1305	HITS-CLIP	23824327
MIRT614876	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT614883	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT614882	hsa-miR-139-3p	HITS-CLIP	23824327
MIRT614880	hsa-miR-4531	HITS-CLIP	23824327
MIRT614879	hsa-miR-1270	HITS-CLIP	23824327
MIRT614878	hsa-miR-620	HITS-CLIP	23824327
MIRT614877	hsa-miR-1305	HITS-CLIP	23824327
MIRT614876	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT614883	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT614877	hsa-miR-1305	HITS-CLIP	23824327
MIRT614876	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT614883	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT614882	hsa-miR-139-3p	HITS-CLIP	23824327
MIRT614881	hsa-miR-3653-3p	HITS-CLIP	23824327
MIRT614880	hsa-miR-4531	HITS-CLIP	23824327
MIRT614879	hsa-miR-1270	HITS-CLIP	23824327
MIRT614878	hsa-miR-620	HITS-CLIP	23824327
MIRT614877	hsa-miR-1305	HITS-CLIP	23824327
MIRT614876	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT555835	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT555834	hsa-miR-4666a-5p	PAR-CLIP	21572407
MIRT555833	hsa-miR-4455	PAR-CLIP	21572407
MIRT555832	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT495095	hsa-miR-3714	PAR-CLIP	23708386
MIRT495094	hsa-miR-3130-3p	PAR-CLIP	23708386
MIRT495093	hsa-miR-767-5p	PAR-CLIP	23708386
MIRT471551	hsa-miR-548m	PAR-CLIP	23592263
MIRT471549	hsa-miR-7109-3p	PAR-CLIP	23592263
MIRT471550	hsa-miR-1321	PAR-CLIP	23592263
MIRT471548	hsa-miR-4739	PAR-CLIP	23592263
MIRT471547	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT471546	hsa-miR-3675-5p	PAR-CLIP	23592263
MIRT471545	hsa-miR-6890-5p	PAR-CLIP	23592263
MIRT471544	hsa-miR-125a-3p	PAR-CLIP	23592263
MIRT471543	hsa-miR-764	PAR-CLIP	23592263
MIRT471542	hsa-miR-3934-5p	PAR-CLIP	23592263
MIRT471541	hsa-miR-6730-5p	PAR-CLIP	23592263
MIRT471540	hsa-miR-3126-5p	PAR-CLIP	23592263
MIRT471538	hsa-miR-6875-5p	PAR-CLIP	23592263
MIRT471539	hsa-miR-4419a	PAR-CLIP	23592263
MIRT471537	hsa-miR-4510	PAR-CLIP	23592263
MIRT471536	hsa-miR-6127	PAR-CLIP	23592263
MIRT471535	hsa-miR-6129	PAR-CLIP	23592263
MIRT471534	hsa-miR-6130	PAR-CLIP	23592263
MIRT471533	hsa-miR-6133	PAR-CLIP	23592263
MIRT471532	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT471531	hsa-miR-4710	PAR-CLIP	23592263
MIRT471530	hsa-miR-6834-5p	PAR-CLIP	23592263
MIRT614883	hsa-miR-153-5p	HITS-CLIP	19536157
MIRT614877	hsa-miR-1305	HITS-CLIP	19536157
MIRT614876	hsa-miR-335-3p	HITS-CLIP	19536157
MIRT555835	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT555834	hsa-miR-4666a-5p	HITS-CLIP	21572407
MIRT555833	hsa-miR-4455	HITS-CLIP	21572407
MIRT555832	hsa-miR-574-5p	HITS-CLIP	21572407
MIRT555835	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT555834	hsa-miR-4666a-5p	HITS-CLIP	23824327
MIRT555833	hsa-miR-4455	HITS-CLIP	23824327
MIRT555832	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT555833	hsa-miR-4455	HITS-CLIP	23824327
MIRT555835	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT555834	hsa-miR-4666a-5p	HITS-CLIP	23824327
MIRT555832	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT614883	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT614882	hsa-miR-139-3p	HITS-CLIP	23824327
MIRT614880	hsa-miR-4531	HITS-CLIP	23824327
MIRT614879	hsa-miR-1270	HITS-CLIP	23824327
MIRT614878	hsa-miR-620	HITS-CLIP	23824327
MIRT614877	hsa-miR-1305	HITS-CLIP	23824327
MIRT614876	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT614883	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT614877	hsa-miR-1305	HITS-CLIP	23824327
MIRT614876	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT555835	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT555834	hsa-miR-4666a-5p	HITS-CLIP	23824327
MIRT555833	hsa-miR-4455	HITS-CLIP	23824327
MIRT555832	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT614883	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT614882	hsa-miR-139-3p	HITS-CLIP	23824327
MIRT614880	hsa-miR-4531	HITS-CLIP	23824327
MIRT614879	hsa-miR-1270	HITS-CLIP	23824327
MIRT614878	hsa-miR-620	HITS-CLIP	23824327
MIRT614877	hsa-miR-1305	HITS-CLIP	23824327
MIRT614876	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT614883	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT614882	hsa-miR-139-3p	HITS-CLIP	23824327
MIRT614880	hsa-miR-4531	HITS-CLIP	23824327
MIRT614879	hsa-miR-1270	HITS-CLIP	23824327
MIRT614878	hsa-miR-620	HITS-CLIP	23824327
MIRT614877	hsa-miR-1305	HITS-CLIP	23824327
MIRT614876	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT614883	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT614877	hsa-miR-1305	HITS-CLIP	23824327
MIRT614876	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT614883	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT614882	hsa-miR-139-3p	HITS-CLIP	23824327
MIRT614881	hsa-miR-3653-3p	HITS-CLIP	23824327
MIRT614880	hsa-miR-4531	HITS-CLIP	23824327
MIRT614879	hsa-miR-1270	HITS-CLIP	23824327
MIRT614878	hsa-miR-620	HITS-CLIP	23824327
MIRT614877	hsa-miR-1305	HITS-CLIP	23824327
MIRT614876	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT555835	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT555834	hsa-miR-4666a-5p	PAR-CLIP	21572407
MIRT555833	hsa-miR-4455	PAR-CLIP	21572407
MIRT555832	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT495095	hsa-miR-3714	PAR-CLIP	23708386
MIRT495094	hsa-miR-3130-3p	PAR-CLIP	23708386
MIRT495093	hsa-miR-767-5p	PAR-CLIP	23708386
MIRT471551	hsa-miR-548m	PAR-CLIP	23592263
MIRT471549	hsa-miR-7109-3p	PAR-CLIP	23592263
MIRT471550	hsa-miR-1321	PAR-CLIP	23592263
MIRT471548	hsa-miR-4739	PAR-CLIP	23592263
MIRT471547	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT471546	hsa-miR-3675-5p	PAR-CLIP	23592263
MIRT471545	hsa-miR-6890-5p	PAR-CLIP	23592263
MIRT471544	hsa-miR-125a-3p	PAR-CLIP	23592263
MIRT471543	hsa-miR-764	PAR-CLIP	23592263
MIRT471542	hsa-miR-3934-5p	PAR-CLIP	23592263
MIRT471541	hsa-miR-6730-5p	PAR-CLIP	23592263
MIRT471540	hsa-miR-3126-5p	PAR-CLIP	23592263
MIRT471538	hsa-miR-6875-5p	PAR-CLIP	23592263
MIRT471539	hsa-miR-4419a	PAR-CLIP	23592263
MIRT471537	hsa-miR-4510	PAR-CLIP	23592263
MIRT471536	hsa-miR-6127	PAR-CLIP	23592263
MIRT471535	hsa-miR-6129	PAR-CLIP	23592263
MIRT471534	hsa-miR-6130	PAR-CLIP	23592263
MIRT471533	hsa-miR-6133	PAR-CLIP	23592263
MIRT471532	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT471531	hsa-miR-4710	PAR-CLIP	23592263
MIRT471530	hsa-miR-6834-5p	PAR-CLIP	23592263
MIRT1215326	hsa-miR-1224-5p	CLIP-seq
MIRT1215327	hsa-miR-1273e	CLIP-seq
MIRT1215328	hsa-miR-146b-3p	CLIP-seq
MIRT1215329	hsa-miR-1913	CLIP-seq
MIRT1215330	hsa-miR-3173-5p	CLIP-seq
MIRT1215331	hsa-miR-324-3p	CLIP-seq
MIRT1215332	hsa-miR-339-3p	CLIP-seq
MIRT1215333	hsa-miR-3691-3p	CLIP-seq
MIRT1215334	hsa-miR-377	CLIP-seq
MIRT1215335	hsa-miR-3915	CLIP-seq
MIRT1215336	hsa-miR-3921	CLIP-seq
MIRT1215337	hsa-miR-4268	CLIP-seq
MIRT1215338	hsa-miR-4303	CLIP-seq
MIRT1215339	hsa-miR-4327	CLIP-seq
MIRT1215340	hsa-miR-4653-5p	CLIP-seq
MIRT1215341	hsa-miR-4660	CLIP-seq
MIRT1215342	hsa-miR-4686	CLIP-seq
MIRT1215343	hsa-miR-4689	CLIP-seq
MIRT1215344	hsa-miR-4751	CLIP-seq
MIRT1215345	hsa-miR-4795-5p	CLIP-seq
MIRT1215346	hsa-miR-526b	CLIP-seq
MIRT1215347	hsa-miR-646	CLIP-seq
MIRT1215348	hsa-miR-874	CLIP-seq
MIRT2061972	hsa-miR-149	CLIP-seq
MIRT2061973	hsa-miR-188-3p	CLIP-seq
MIRT2061974	hsa-miR-3176	CLIP-seq
MIRT2061975	hsa-miR-320e	CLIP-seq
MIRT2061976	hsa-miR-370	CLIP-seq
MIRT2061977	hsa-miR-3922-3p	CLIP-seq
MIRT2061978	hsa-miR-4299	CLIP-seq
MIRT2061979	hsa-miR-4328	CLIP-seq
MIRT2061980	hsa-miR-4436a	CLIP-seq
MIRT2061981	hsa-miR-4687-3p	CLIP-seq
MIRT2061982	hsa-miR-4727-5p	CLIP-seq
MIRT2061983	hsa-miR-4769-3p	CLIP-seq
MIRT2061984	hsa-miR-4793-5p	CLIP-seq
MIRT2061985	hsa-miR-760	CLIP-seq
MIRT2290477	hsa-miR-103a	CLIP-seq
MIRT2290478	hsa-miR-107	CLIP-seq
MIRT2290479	hsa-miR-1184	CLIP-seq
MIRT1215327	hsa-miR-1273e	CLIP-seq
MIRT2061972	hsa-miR-149	CLIP-seq
MIRT2061976	hsa-miR-370	CLIP-seq
MIRT2061978	hsa-miR-4299	CLIP-seq
MIRT1215339	hsa-miR-4327	CLIP-seq
MIRT2061979	hsa-miR-4328	CLIP-seq
MIRT1215342	hsa-miR-4686	CLIP-seq
MIRT2290480	hsa-miR-4725-5p	CLIP-seq
MIRT2061982	hsa-miR-4727-5p	CLIP-seq
MIRT2061983	hsa-miR-4769-3p	CLIP-seq
MIRT2061984	hsa-miR-4793-5p	CLIP-seq
MIRT1215345	hsa-miR-4795-5p	CLIP-seq
MIRT2290481	hsa-miR-504	CLIP-seq
MIRT2290482	hsa-miR-596	CLIP-seq
MIRT2061985	hsa-miR-760	CLIP-seq
MIRT2392152	hsa-miR-1260	CLIP-seq
MIRT2392153	hsa-miR-1260b	CLIP-seq
MIRT2061973	hsa-miR-188-3p	CLIP-seq
MIRT2392154	hsa-miR-2467-3p	CLIP-seq
MIRT2392155	hsa-miR-2861	CLIP-seq
MIRT2392156	hsa-miR-3130-5p	CLIP-seq
MIRT2392157	hsa-miR-3156-3p	CLIP-seq
MIRT2392158	hsa-miR-3187-3p	CLIP-seq
MIRT2061975	hsa-miR-320e	CLIP-seq
MIRT2392159	hsa-miR-3677-5p	CLIP-seq
MIRT2392160	hsa-miR-3678-3p	CLIP-seq
MIRT2061979	hsa-miR-4328	CLIP-seq
MIRT2392161	hsa-miR-4482	CLIP-seq
MIRT2392162	hsa-miR-4529-5p	CLIP-seq
MIRT1215332	hsa-miR-339-3p	CLIP-seq
MIRT1215336	hsa-miR-3921	CLIP-seq
MIRT1215338	hsa-miR-4303	CLIP-seq
MIRT1215340	hsa-miR-4653-5p	CLIP-seq
MIRT2455954	hsa-miR-4722-3p	CLIP-seq
MIRT2455955	hsa-miR-4755-3p	CLIP-seq
MIRT2465806	hsa-miR-4254	CLIP-seq
MIRT2290477	hsa-miR-103a	CLIP-seq
MIRT2290478	hsa-miR-107	CLIP-seq
MIRT2588512	hsa-miR-3136-3p	CLIP-seq
MIRT1215332	hsa-miR-339-3p	CLIP-seq
MIRT1215336	hsa-miR-3921	CLIP-seq
MIRT1215338	hsa-miR-4303	CLIP-seq
MIRT2588513	hsa-miR-4436b-3p	CLIP-seq
MIRT1215340	hsa-miR-4653-5p	CLIP-seq
MIRT2588514	hsa-miR-4691-5p	CLIP-seq
MIRT2455954	hsa-miR-4722-3p	CLIP-seq
MIRT2455955	hsa-miR-4755-3p	CLIP-seq
MIRT2290477	hsa-miR-103a	CLIP-seq
MIRT2290478	hsa-miR-107	CLIP-seq
MIRT2588512	hsa-miR-3136-3p	CLIP-seq
MIRT1215332	hsa-miR-339-3p	CLIP-seq
MIRT1215336	hsa-miR-3921	CLIP-seq
MIRT1215338	hsa-miR-4303	CLIP-seq
MIRT2588513	hsa-miR-4436b-3p	CLIP-seq
MIRT1215340	hsa-miR-4653-5p	CLIP-seq
MIRT2588514	hsa-miR-4691-5p	CLIP-seq
MIRT2455954	hsa-miR-4722-3p	CLIP-seq
MIRT2455955	hsa-miR-4755-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
TP53	Activation	21319196

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	24735925, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006366	Process	Transcription by RNA polymerase II	TAS	10524622
GO:0007283	Process	Spermatogenesis	IEA
GO:0007399	Process	Nervous system development	IBA
GO:0007399	Process	Nervous system development	IEA
GO:0007423	Process	Sensory organ development	IBA
GO:0021670	Process	Lateral ventricle development	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030183	Process	B cell differentiation	TAS	10524629
GO:0030534	Process	Adult behavior	IEA
GO:0035914	Process	Skeletal muscle cell differentiation	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048701	Process	Embryonic cranial skeleton morphogenesis	IEA

Other IDs

• MIM: 167414
• HGNC: 8619
• e!Ensembl: ENSG00000196092

Protein

• UniProt ID: Q02548
• Protein name: Paired box protein Pax-5 (B-cell-specific transcription factor) (BSAP)
• Protein function: Transcription factor that plays an essential role in commitment of lymphoid progenitors to the B-lymphocyte lineage (PubMed:10811620, PubMed:27181361). Fulfills a dual role by repressing B-lineage inappropriate genes and simultaneously activatin
• PDB: 1K78, 1MDM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00292	PAX	16 → 140		Domain
  PF12403	Pax2_C	279 → 390	Paired-box protein 2 C terminal	Family

• Sequence:

  MDLEKNYPTPRTSRTGHGGVNQLGGVFVNGRPLPDVVRQRIVELAHQGVRPCDISRQLRV
  SHGCVSKILGRYYETGSIKPGVIGGSKPKVATPKVVEKIAEYKRQNPTMFAWEIRDRLLA
  ERVCDNDTVPSVSSINRIIRTKVQQPPNQPVPASSHSIVSTGSVTQVSSVSTDSAGSSYS
  ISGILGITSPSADTNKRKRDEGIQESPVPNGHSLPGRDFLRKQMRGDLFTQQQLEVLDRV
  FERQHYSDIFTTTEPIKPEQTTEYSAMASLAGGLDDMKANLASPTPADIGSSVPGPQSYP
  IVTGRDLASTTLPGYPPHVPPAGQGSYSAPTLTGMVPGSEFSGSPYSHPQYSSYNDSWRF
  PNPGLLGSPYYYSAAARGAAPPAAATAYDRH

• Sequence length: 391

Pathways

KEGG:

Transcriptional misregulation in cancer

Reactome:

RUNX1 regulates transcription of genes involved in BCR signaling

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Acute lymphoid leukemia	Likely pathogenic	rs926053251, rs2132470416, rs2493186313, rs1588104877, rs2494412874, rs1841274813, rs2131591339, rs2132470584, rs750194822, rs2494556210, rs780753361, rs2494512458, rs2494512979	RCV003444115 RCV003444116 RCV003444118 RCV003444119 RCV003444120 RCV003444124 RCV003444131 RCV003444138 RCV003444139 RCV003444140 RCV003444141 RCV003444142 RCV003444071 RCV000766127	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leukemia, acute lymphoblastic, susceptibility to, 3	Pathogenic; Likely pathogenic	rs2132194720, rs2132424384	RCV002508963 RCV001775177	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Pathogenic; Likely pathogenic	rs2132194720, rs2132424384, rs1337956293	RCV001580199 RCV001580198 RCV001580197	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANXIETY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-LYMPHOBLASTIC LEUKEMIA/LYMPHOMA WITH T	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR POSITIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAX5-related disorder	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute leukemia	Leukemia	BEFREE	14676435, 15492262, 25990863, 30396184		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	11406533, 14676435, 17129225, 17440452, 17897302, 19587702, 20160164, 20421277, 20534699, 20972455, 21156323, 21549623, 21606506, 21813177, 21962897, 21970955, 22578776, 22851563, 24435167, 24939936, 25515960, 25631385, 26214592, 26520622, 26703467, 26782422, 27381906, 27870151, 27957801, 28476192, 29552179, 30563523, 30643249, 30842609, 31112375		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	20208555		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	20972455		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	21285871		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	35929659	Associate	★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	21156323, 21606506, 22851563, 26214592, 27870151, 28476192, 29552179, 31112375		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	16614247, 30350336, 31699300, 31825183		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	17016584, 7777574		★☆☆☆☆ Found in Text Mining only
Alveolar rhabdomyosarcoma	Alveolar Rhabdomyosarcoma	BEFREE	19145202		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	18472258, 21970955		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	24213554	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	9815975		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	32366930	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	25418537	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	10071452, 10784387, 14676435, 15385562, 15832095, 15942942, 16049306, 16712476, 17082608, 17671180, 19725825, 21299464, 22546857, 27356711, 29480878, 30583670, 30675202, 9722295, 9808580, 9850179		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	LHGDN	17476282		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	10905058		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	14577491		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	17553960	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm	Bladder Neoplasm	BEFREE	16566978		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	LHGDN	18604731		★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	25565391	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	9815975		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25684485, 28076843, 30032344, 30194145		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	16837628, 20197384, 22765268, 28076843, 30792990, 37403081	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms Male	Male breast neoplasms	Pubtator	22765268	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	14676435, 16877363, 17179230, 20023257, 31000522		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	14676435	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	ORPHANET_DG	17179230, 21962897, 22578776, 24013638		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	27748274, 34425470	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	19139719	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22457049	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	19139719	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	16837628, 23329999, 34896889	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	16566978		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	26843424		★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	16837628, 26823795	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	15832095, 27941564, 29561272		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	11289124, 18697940, 19020546, 20233627, 21156323, 21606506, 22851563, 26214592, 27506447, 27870151, 28476192, 29552179, 31112375		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	CTD_human_DG	26214592		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	17016584, 7777574		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	35022330, 37234171	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	10905058, 24071841, 28219927, 28302063, 30503705, 31317311, 8650231		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22020530, 28675510, 30804124, 32271416, 32351322, 34331023, 37751586	Associate	★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	BEFREE	9486401		★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	9486401	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	9722295		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29695241		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Degenerative polyarthritis	Arthritis	BEFREE	25631385, 29858052		★☆☆☆☆ Found in Text Mining only
Desmoplastic Medulloblastoma	Medulloblastoma	BEFREE	7777574		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	29695241		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	10350329, 11460166, 14676435, 17018394, 17671180, 20081364, 8650231, 8943844		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	LHGDN	17535098		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	22441210		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	29483588		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	16837628, 23167388	Associate	★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	16086408		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	29099287	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29134420, 9815975		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29134420, 9815975		★☆☆☆☆ Found in Text Mining only
Hairy Cell Leukemia	Hairy Cell Leukemia	BEFREE	28418282		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	19139719		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	24786473, 30777857	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	14676435, 20154279		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	19145202		★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	16837628, 30630978	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	26458662	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Leiomyomatosis and Renal Cell Cancer	Hereditary Leiomyomatosis and Renal Cancer	BEFREE	26073757		★☆☆☆☆ Found in Text Mining only
Histiocytosis, Langerhans-Cell	Histiocytosis	BEFREE	31317311		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	10556196, 16614247, 16648862, 16837628, 17529924, 20118907, 20660931, 21424034, 24633193, 29950528, 35977101	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	LHGDN	12609061		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	14676435, 16614247, 16968900, 17440452, 17717600, 20118907, 30350336, 31699300, 31825183		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	29483588		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	36130209	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	25403488	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	29483588		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	9486401		★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	20118907		★☆☆☆☆ Found in Text Mining only
L2 Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	CTD_human_DG	26214592		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	15815718, 17218387, 19020546, 20231472, 23955454, 24071841, 24435167, 25595912, 25990863, 26626503, 26703467, 30216339, 31381561		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	17374122, 24435167, 28982308, 30630978, 36516256	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	37930337	Stimulate	★☆☆☆☆ Found in Text Mining only
Leukemia Hairy Cell	Hairy cell leukemia	Pubtator	28418282	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	18519632	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	20660931, 21765475, 23616623, 26785729, 28982308	Associate	★☆☆☆☆ Found in Text Mining only
LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 3	Lymphoblastic Leukemia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukemia, Mast-Cell	Leukemia	BEFREE	26073757		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	14676435, 15492262, 16891199, 17074681, 17218387, 20193845, 20208555, 23616623, 23955454, 25748621, 30396184		★☆☆☆☆ Found in Text Mining only
Leukoplakia	Leukoplakia	BEFREE	17016584		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	21319196, 27171388		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	19139719		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26823795, 32138766	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	26843424		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	24213554	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	24213554		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	33013825	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	26823795	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	20160164, 20421277, 22127921, 26782422, 27957801		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	14592832, 14676435, 16507780, 16778825, 17529924, 19725825, 20660931, 26458662, 9694719	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	14676435, 15832095, 17635241, 17717600, 19145202, 19430986, 20118907, 26073757, 28484276, 8650231		★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	11756183, 14676435, 29390075, 9694719	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	17018394, 18945749		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	27748274, 9722295		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	27748274, 9722295		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	16803564	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	27479909, 29662059, 30718901		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	19139719		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	14676435, 23321250		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25684485, 28076843, 30032344, 30194145, 30416383		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	26843424		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	19139719		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	31209207, 31570703		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	22105368, 25277182, 28588701		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	16566978		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10368252, 11406533, 11477548, 12907641, 17016584, 17218387, 17440452, 17897302, 18829564, 18957548, 19139719, 20130947, 20154279, 21319196, 21970955, 22127921, 24786473, 26073757, 28076843, 28316978, 28592433, 29099287, 29453973, 30032344, 30194145, 30416383, 30918060, 31381561, 9815975		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	14676435, 23321250, 26073757, 28592433		★☆☆☆☆ Found in Text Mining only
Marginal Zone B-Cell Lymphoma	B-Cell Lymphoma	BEFREE	9808580		★☆☆☆☆ Found in Text Mining only
Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome	BEFREE	28675510		★☆☆☆☆ Found in Text Mining only
Mediastinal (Thymic) Large B-Cell Lymphoma	B-Cell Lymphoma	BEFREE	15842661, 16224207		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	11477548, 17016584, 7777574		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	7777574	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	30792990, 31980996	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	27923479		★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	15832095, 23576560, 30315594		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	19139719		★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	9808580		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	12453881, 15195108, 16518692, 18192112, 20882442, 25265432, 25633778		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	12453881, 26763361, 28420429, 29654271, 8639790	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	LHGDN	16518692		★☆☆☆☆ Found in Text Mining only
Mycosis Fungoides	Mycosis fungoides	Pubtator	33686443	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	32772642	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	15492262, 16891199		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10368252, 11477548, 11781220, 15195108, 16086408, 16566978, 17363577, 17717600, 18829564, 19145202, 19368954, 21319196, 21970955, 22105368, 23599149, 24013638, 24664538, 25684485, 26073757, 26843424, 27029827, 27171388, 27740969, 27941564, 28219927, 28484276, 28675510, 29453973, 29561272, 29598887, 30194145, 30257940, 30842609, 31570703, 31811434, 7777574, 9570138, 9722295, 9808580, 9815975		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	20154279		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	23167388	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	28191889		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	15832095, 27941564, 29561272		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	LHGDN	17050077		★☆☆☆☆ Found in Text Mining only
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Classical Hodgkin lymphoma	BEFREE	24525501		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	26843424, 27029827		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	21710692		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	GWASCAT_DG	22013104		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	GWASDB_DG	22013104		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oropharyngeal Neoplasms	Oropharyngeal neoplasm	Pubtator	34974810	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	25565391, 28993865		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	23438850	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	19139719		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	19139719, 33613108, 34530906, 40055736	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	LHGDN	17431414		★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	20118907		★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	30804124	Associate	★☆☆☆☆ Found in Text Mining only
Pre B-cell acute lymphoblastic leukemia	B-cell Lymphoma	BEFREE	24013638, 28192788		★☆☆☆☆ Found in Text Mining only
Precursor B-cell acute lymphoblastic leukemia	Lymphoblastic Leukemia	Orphanet			★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	16518692, 16551973, 17179230, 20023257, 20231472, 20972455, 21813177, 23529845, 26073757, 26310606, 28192788, 28219927, 28886309, 30257940, 31228652		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	ORPHANET_DG	17179230, 21962897, 22578776, 24013638		★☆☆☆☆ Found in Text Mining only
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	21813177, 28192788, 30216339		★☆☆☆☆ Found in Text Mining only
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	CTD_human_DG	24013638, 30643249		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	11406533, 19587702, 20160164, 20421277, 20534699, 20972455, 21549623, 21606506, 21813177, 21962897, 21970955, 22578776, 24435167, 24939936, 25515960, 26520622, 26703467, 26782422, 27381906, 27957801, 30563523, 30643249, 30842609		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	UNIPROT_DG	24013638		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	CTD_human_DG	26214592		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	20023257, 21156323		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	31209207, 31570703		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	31570703, 39183332	Associate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	22278416	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	19145202		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Alveolar	Rhabdomyosarcoma	Pubtator	10666368	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	23772083, 24213554		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	24664538		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	25418537	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	15832095, 19139719, 24628993		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	LHGDN	19139719		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	19139719, 21043826, 23329999, 26823795	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	29099287		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	26304463, 29099287, 30777857, 33594807	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	22105368, 25277182, 28588701		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	25277182	Associate	★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	14676435, 16968900, 27356711		★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	10368252, 14577491		★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue Neoplasms	BEFREE	27491556		★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	10368252, 14577491, 16566978		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	25684485		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	25684485	Associate	★☆☆☆☆ Found in Text Mining only
Truncus Arteriosus, Persistent	Persistent truncus arteriosus	BEFREE	10368252		★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	BEFREE	20233627		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	16837628	Associate	★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom`s Macroglobulinemia	BEFREE	10350329, 10681729, 15116325, 15942942, 16049306, 16956840, 17252022, 18670352, 8943844, 9570138, 9631587		★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom macroglobulinemia	Pubtator	8943844	Associate	★☆☆☆☆ Found in Text Mining only