Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5079
Gene name	Paired box 5
Gene symbol	PAX5
Synonyms (NCBI Gene)	ALL3BSAPPAX-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

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Show/Hide all (264)

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

Show/Hide all (1)

Transcription factor	Regulation	Reference
TP53	Activation	21319196

Show/Hide all (29)

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

MIM	HGNC	e!Ensembl
167414	8619	ENSG00000196092

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

Interactions

View interactions

	KEGG		Reactome
	Transcriptional misregulation in cancer		RUNX1 regulates transcription of genes involved in BCR signaling

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
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
Leukemia, acute lymphoblastic, susceptibility to, 3	Pathogenic; Likely pathogenic	rs2132194720, rs2132424384	RCV002508963 RCV001775177
Neurodevelopmental disorder	Pathogenic; Likely pathogenic	rs2132194720, rs2132424384, rs1337956293	RCV001580199 RCV001580198 RCV001580197

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Likely benign	rs2297106	RCV005918645
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely benign	rs2297106	RCV005918648
Gastric cancer	Likely benign	rs2297106	RCV005918647
Hepatocellular carcinoma	Likely benign	rs2297106	RCV005918644
Ovarian cancer	Likely benign	rs2297106	RCV005918646
PAX5-related disorder	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance; Benign	rs113556063, rs563606361, rs371549995, rs1281206816, rs768255155, rs537480017, rs1175223050, rs778084883, rs144574685	RCV003892871 RCV004756467 RCV003410512 RCV003410488 RCV003948942 RCV003921774 RCV003894359 RCV003981278 RCV003958364

Show/Hide Text Mining Associations (100)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	32509861
Adrenocortical Carcinoma	Associate	35929659
Arthritis Rheumatoid	Associate	24213554
Ataxia Telangiectasia	Associate	32366930
Autistic Disorder	Associate	25418537
Bipolar Disorder	Inhibit	17553960
Bone Diseases Metabolic	Associate	25565391
Breast Neoplasms	Associate	16837628, 20197384, 22765268, 28076843, 30792990, 37403081
Breast Neoplasms Male	Associate	22765268
Bronchiolitis Obliterans Syndrome	Associate	28851699
Burkitt Lymphoma	Associate	14676435
Carcinogenesis	Associate	27748274, 34425470
Carcinoid Tumor	Associate	19139719
Carcinoma Hepatocellular	Associate	22457049
Carcinoma Large Cell	Associate	19139719
Carcinoma Merkel Cell	Associate	16837628, 23329999, 34896889
Carcinoma Neuroendocrine	Associate	16837628
Carcinoma Non Small Cell Lung	Associate	26823795, 38254087
Carcinoma Small Cell	Associate	16837628, 26823795
Cholangiocarcinoma	Associate	35022330, 37234171
Colorectal Neoplasms	Associate	22020530, 28675510, 30804124, 32271416, 32351322, 34331023, 37751586
Common Variable Immunodeficiency	Associate	9486401
Death	Associate	27543867
Drug Related Side Effects and Adverse Reactions	Associate	19138562
Endometrial Neoplasms	Associate	16837628, 23167388
Esophageal Squamous Cell Carcinoma	Associate	29099287
Esthesioneuroblastoma Olfactory	Associate	27543867
Head and Neck Neoplasms	Associate	24786473, 30777857
Hepatitis B	Associate	16837628, 30630978
Hereditary Breast and Ovarian Cancer Syndrome	Associate	26458662
Hereditary leiomyomatosis and renal cell cancer	Associate	10556196, 12393731, 16877363, 22367293, 24633193, 33716241, 35091549, 36288644
Histiocytic Sarcoma	Associate	36241730
Hodgkin Disease	Associate	10556196, 16614247, 16648862, 16837628, 17529924, 20118907, 20660931, 21424034, 24633193, 29950528, 35977101
Hypertension	Inhibit	36130209
Hypertension Pulmonary	Associate	25403488
Influenza Human	Associate	29425852
Langerhans Cell Sarcoma	Associate	20421277
Leukemia	Associate	17374122, 24435167, 28982308, 30630978, 36516256
Leukemia	Stimulate	37930337
Leukemia B Cell	Associate	24673583, 9694719
Leukemia Biphenotypic Acute	Associate	17129225, 21722099, 28557976, 36241730, 36516256, 36550215, 37930337, 37981088, 9722295
Leukemia Hairy Cell	Associate	28418282
Leukemia Lymphocytic Chronic B Cell	Associate	15561888, 19725825, 26847028, 32051441, 33608382, 36287107, 36323260, 9694719, 9808580
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	14676435, 20082691
Leukemia Myeloid	Associate	18519632
Leukemia Myeloid Acute	Associate	20660931, 21765475, 23616623, 26785729, 28982308
Leukemia Prolymphocytic T Cell	Associate	28584254
Lipase deficiency combined	Associate	16837628
Lung Neoplasms	Associate	26823795, 32138766
Lupus Erythematosus Systemic	Associate	24213554
Lupus Nephritis	Associate	33013825
Lymphatic Metastasis	Associate	26823795
Lymphoma	Associate	14592832, 14676435, 16507780, 16778825, 17529924, 19725825, 20660931, 26458662, 9694719
Lymphoma B Cell	Associate	10556196, 14676435, 15385562, 16837628, 17897302, 20418245, 20660931, 26782422, 27748274, 30583670, 38049665, 9694719, 9722295
Lymphoma B Cell Marginal Zone	Associate	16778825, 9808580
Lymphoma Follicular	Associate	11756183, 14676435, 29390075, 9694719
Lymphoma Large B Cell Diffuse	Associate	14676435, 20660931, 26458662, 33452395, 34707037, 37184294, 8943844, 9694719
Lymphoma Large Cell Anaplastic	Associate	20118907, 24633193, 29950528
Lymphoma Mantle Cell	Associate	14676435, 34099776, 36282572, 9694719
Lymphoma Non Hodgkin	Associate	12714522, 14676435, 27748274, 30583670, 9694719
Lymphoma Primary Effusion	Associate	17456056
Lymphoma T Cell	Associate	17431414
Lymphoproliferative Disorders	Associate	16803564
Medulloblastoma	Associate	7777574
Melanoma	Associate	30792990, 31980996
Multiple Myeloma	Associate	12453881, 26763361, 28420429, 29654271, 8639790
Multiple Sclerosis Relapsing Remitting	Inhibit	33013825
Mycosis Fungoides	Associate	33686443
Myelodysplastic Syndromes	Associate	32772642
Myoclonic Epilepsies Progressive	Associate	10556196
Neoplasm Metastasis	Associate	34974810
Neoplasms	Associate	12218070, 17529924, 18957548, 19138562, 21043826, 21765475, 23583282, 24786473, 25684485, 26304463, 26458662, 26610810, 27543867, 28076843, 28109040 View all (14 more)
Neoplasms	Inhibit	37403081
Neoplasms Squamous Cell	Associate	20118907
Neuroblastoma	Associate	23167388
Neuroendocrine Tumors	Associate	27543867, 39183332
Oropharyngeal Neoplasms	Associate	34974810
Ovarian Neoplasms	Associate	23438850
Pancreatic Neoplasms	Associate	19139719, 33613108, 34530906, 40055736
Peritonitis	Associate	30804124
Philadelphia Chromosome	Associate	30190342, 35985167
Plasmablastic Lymphoma	Associate	15578069, 20418245, 35523507
Pneumonia	Associate	26823795
Precursor B Cell Lymphoblastic Leukemia Lymphoma	Associate	17940204, 20160164, 20660931, 24013638, 26782422, 30487223, 30563523, 30874617, 32078009, 32646889, 34425470, 34547766, 35226982, 36550215, 37419244
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	14676435, 19586940, 20160164, 20421277, 20435627, 20534699, 24013638, 24435167, 25515960, 26782422, 30190342, 30563523, 30874617, 30940639, 32592278 View all (9 more)
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	14676435, 17129225, 17897302, 19138562, 35985167, 36550215
Primary Myelofibrosis	Associate	26408680
Prostatic Neoplasms	Associate	31570703, 39183332
Pyruvate Carboxylase Deficiency Disease	Inhibit	19846886
Retinoblastoma	Associate	22278416
Rhabdomyosarcoma Alveolar	Associate	10666368
Salivary Duct Calculi	Associate	23583282
Seizures	Associate	25418537
Small Cell Lung Carcinoma	Associate	19139719, 21043826, 23329999, 26823795
Squamous Cell Carcinoma of Head and Neck	Associate	26304463, 29099287, 30777857, 33594807
Stomach Neoplasms	Associate	25277182
T cell immunodeficiency primary	Associate	9486401
Triple Negative Breast Neoplasms	Associate	25684485
Urinary Bladder Neoplasms	Associate	16837628
Waldenstrom Macroglobulinemia	Associate	8943844

PAX5 (paired box 5)