PAX5 (paired box 5)

Gene

• Entrez ID: 5079
• Gene name: Paired box 5
• Gene symbol: PAX5
• Synonyms: 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	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
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:0001650	Component	Fibrillar center	IDA
GO:0005515	Function	Protein binding	IPI	24735925, 32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0006366	Process	Transcription by RNA polymerase II	TAS	10524622
GO:0006959	Process	Humoral immune response	TAS	10524629
GO:0007275	Process	Multicellular organism development	TAS	10524629
GO:0007283	Process	Spermatogenesis	IEA
GO:0007568	Process	Aging	IEA
GO:0009887	Process	Animal organ morphogenesis	TAS	10524622
GO:0021670	Process	Lateral ventricle development	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0030534	Process	Adult behavior	IEA
GO:0035914	Process	Skeletal muscle cell differentiation	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048701	Process	Embryonic cranial skeleton morphogenesis	IEA
GO:0048856	Process	Anatomical structure development	IBA	21873635
GO:0050855	Process	Regulation of B cell receptor signaling pathway	TAS
GO:0051573	Process	Negative regulation of histone H3-K9 methylation	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

Causal
Disease name	Disease term	dbSNP ID	References
Burkitt`s lymphoma	Burkitt Lymphoma	rs28933407, rs121918683, rs121918684	22578776, 17179230, 24013638, 21962897
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537	29695241
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	29695241
Lymphoblastic leukemia	Childhood Acute Lymphoblastic Leukemia, L2 Acute Lymphoblastic Leukemia, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma, Precursor B-cell lymphoblastic leukemia, LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 3, Precursor B-cell acute lymphoblastic leukemia, Precursor Cell Lymphoblastic Leukemia Lymphoma	rs387906351, rs104894562, rs398122513, rs398122840, rs398123063, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699, rs1597567692, rs1597567985, rs1438890364, rs1288977950, rs1597552140, rs1597566356, rs1597566726, rs1597568117, rs2069719445, rs2069729948, rs2070018439, rs745708044, rs1169577591	26214592, 24013638, 30643249, 17179230, 21962897, 24013638, 22578776, 26214592, 24013638
Non-hodgkin lymphoma	Lymphoma, Non-Hodgkin	rs121908689, rs28936699, rs121909775, rs398122800, rs121913357, rs121913355, rs398122820
Neurodevelopmental disorders	Neurodevelopmental Disorders	rs869312846, rs869312840, rs869312848, rs869312849, rs869312845, rs886041956, rs1064795110, rs1555762734, rs1555764992, rs1568512728, rs1568532361, rs1595472741, rs1595472764, rs1595476797, rs1016320330, rs1595127294, rs1600392059	28191889
Obesity	Obesity	rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840	22013104

Unknown
Disease name	Disease term	dbSNP ID	References
Mental depression	Major Depressive Disorder	rs587778876, rs587778877	27479909, 29662059, 30718901