B3GNT6 (UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6)

Gene

• Entrez ID: 192134
• Gene name: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6
• Gene symbol: B3GNT6
• Synonyms (NCBI Gene): B3Gn-T6, BGnT-6, beta-1, 3-Gn-T6, beta3Gn-T6
• Chromosome: 11
• Chromosome location: 11q13.5
• Summary: The protein encoded by this gene is a beta-1,3-N-acetylglucosaminyltransferase that adds an N-acetylglucosamine moiety to N-acetylgalactosamine-modified serine or threonine. The encoded enzyme is responsible for creating the core 3 structure of O-glycans,

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs781821239	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant, synonymous variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT613466	hsa-miR-3614-5p	HITS-CLIP	23824327
MIRT613465	hsa-miR-6500-3p	HITS-CLIP	23824327
MIRT613464	hsa-miR-3909	HITS-CLIP	23824327
MIRT613463	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT613462	hsa-miR-548aw	HITS-CLIP	23824327
MIRT613461	hsa-miR-518a-5p	HITS-CLIP	23824327
MIRT613460	hsa-miR-527	HITS-CLIP	23824327
MIRT613459	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT613458	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT613465	hsa-miR-6500-3p	HITS-CLIP	23824327
MIRT613464	hsa-miR-3909	HITS-CLIP	23824327
MIRT613463	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT613462	hsa-miR-548aw	HITS-CLIP	23824327
MIRT613461	hsa-miR-518a-5p	HITS-CLIP	23824327
MIRT613460	hsa-miR-527	HITS-CLIP	23824327
MIRT613459	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT613458	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT613466	hsa-miR-3614-5p	HITS-CLIP	23824327
MIRT613465	hsa-miR-6500-3p	HITS-CLIP	23824327
MIRT613464	hsa-miR-3909	HITS-CLIP	23824327
MIRT613463	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT613462	hsa-miR-548aw	HITS-CLIP	23824327
MIRT613461	hsa-miR-518a-5p	HITS-CLIP	23824327
MIRT613460	hsa-miR-527	HITS-CLIP	23824327
MIRT613459	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT613458	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT613466	hsa-miR-3614-5p	HITS-CLIP	23824327
MIRT613465	hsa-miR-6500-3p	HITS-CLIP	23824327
MIRT613464	hsa-miR-3909	HITS-CLIP	23824327
MIRT613463	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT613462	hsa-miR-548aw	HITS-CLIP	23824327
MIRT613461	hsa-miR-518a-5p	HITS-CLIP	23824327
MIRT613460	hsa-miR-527	HITS-CLIP	23824327
MIRT613459	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT613458	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT613466	hsa-miR-3614-5p	HITS-CLIP	23824327
MIRT613465	hsa-miR-6500-3p	HITS-CLIP	23824327
MIRT613464	hsa-miR-3909	HITS-CLIP	23824327
MIRT613463	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT613462	hsa-miR-548aw	HITS-CLIP	23824327
MIRT613461	hsa-miR-518a-5p	HITS-CLIP	23824327
MIRT613460	hsa-miR-527	HITS-CLIP	23824327
MIRT613459	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT613458	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT613466	hsa-miR-3614-5p	HITS-CLIP	23824327
MIRT613465	hsa-miR-6500-3p	HITS-CLIP	23824327
MIRT613464	hsa-miR-3909	HITS-CLIP	23824327
MIRT613463	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT613462	hsa-miR-548aw	HITS-CLIP	23824327
MIRT613461	hsa-miR-518a-5p	HITS-CLIP	23824327
MIRT613460	hsa-miR-527	HITS-CLIP	23824327
MIRT613459	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT613458	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT613458	hsa-miR-2355-3p	HITS-CLIP	28735896
MIRT613458	hsa-miR-2355-3p	HITS-CLIP	28735896
MIRT613466	hsa-miR-3614-5p	HITS-CLIP	28735896
MIRT613466	hsa-miR-3614-5p	HITS-CLIP	28735896
MIRT613464	hsa-miR-3909	HITS-CLIP	28735896
MIRT613464	hsa-miR-3909	HITS-CLIP	28735896
MIRT613461	hsa-miR-518a-5p	HITS-CLIP	28735896
MIRT613461	hsa-miR-518a-5p	HITS-CLIP	28735896
MIRT613460	hsa-miR-527	HITS-CLIP	28735896
MIRT613460	hsa-miR-527	HITS-CLIP	28735896
MIRT613462	hsa-miR-548aw	HITS-CLIP	28735896
MIRT613462	hsa-miR-548aw	HITS-CLIP	28735896
MIRT613465	hsa-miR-6500-3p	HITS-CLIP	28735896
MIRT613465	hsa-miR-6500-3p	HITS-CLIP	28735896
MIRT613459	hsa-miR-676-3p	HITS-CLIP	28735896
MIRT613459	hsa-miR-676-3p	HITS-CLIP	28735896
MIRT613463	hsa-miR-6852-3p	HITS-CLIP	28735896
MIRT613463	hsa-miR-6852-3p	HITS-CLIP	28735896
MIRT613466	hsa-miR-3614-5p	HITS-CLIP	23824327
MIRT613465	hsa-miR-6500-3p	HITS-CLIP	23824327
MIRT613464	hsa-miR-3909	HITS-CLIP	23824327
MIRT613463	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT613462	hsa-miR-548aw	HITS-CLIP	23824327
MIRT613461	hsa-miR-518a-5p	HITS-CLIP	23824327
MIRT613460	hsa-miR-527	HITS-CLIP	23824327
MIRT613459	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT613458	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT613465	hsa-miR-6500-3p	HITS-CLIP	23824327
MIRT613464	hsa-miR-3909	HITS-CLIP	23824327
MIRT613463	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT613462	hsa-miR-548aw	HITS-CLIP	23824327
MIRT613461	hsa-miR-518a-5p	HITS-CLIP	23824327
MIRT613460	hsa-miR-527	HITS-CLIP	23824327
MIRT613459	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT613458	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT613466	hsa-miR-3614-5p	HITS-CLIP	23824327
MIRT613465	hsa-miR-6500-3p	HITS-CLIP	23824327
MIRT613464	hsa-miR-3909	HITS-CLIP	23824327
MIRT613463	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT613462	hsa-miR-548aw	HITS-CLIP	23824327
MIRT613461	hsa-miR-518a-5p	HITS-CLIP	23824327
MIRT613460	hsa-miR-527	HITS-CLIP	23824327
MIRT613459	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT613458	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT613466	hsa-miR-3614-5p	HITS-CLIP	23824327
MIRT613465	hsa-miR-6500-3p	HITS-CLIP	23824327
MIRT613464	hsa-miR-3909	HITS-CLIP	23824327
MIRT613463	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT613462	hsa-miR-548aw	HITS-CLIP	23824327
MIRT613461	hsa-miR-518a-5p	HITS-CLIP	23824327
MIRT613460	hsa-miR-527	HITS-CLIP	23824327
MIRT613459	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT613458	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT613466	hsa-miR-3614-5p	HITS-CLIP	23824327
MIRT613465	hsa-miR-6500-3p	HITS-CLIP	23824327
MIRT613464	hsa-miR-3909	HITS-CLIP	23824327
MIRT613463	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT613462	hsa-miR-548aw	HITS-CLIP	23824327
MIRT613461	hsa-miR-518a-5p	HITS-CLIP	23824327
MIRT613460	hsa-miR-527	HITS-CLIP	23824327
MIRT613459	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT613458	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT613466	hsa-miR-3614-5p	HITS-CLIP	23824327
MIRT613465	hsa-miR-6500-3p	HITS-CLIP	23824327
MIRT613464	hsa-miR-3909	HITS-CLIP	23824327
MIRT613463	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT613462	hsa-miR-548aw	HITS-CLIP	23824327
MIRT613461	hsa-miR-518a-5p	HITS-CLIP	23824327
MIRT613460	hsa-miR-527	HITS-CLIP	23824327
MIRT613459	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT613458	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT813372	hsa-miR-1207-5p	CLIP-seq
MIRT813373	hsa-miR-122	CLIP-seq
MIRT813374	hsa-miR-1226	CLIP-seq
MIRT813375	hsa-miR-1231	CLIP-seq
MIRT813376	hsa-miR-1281	CLIP-seq
MIRT813377	hsa-miR-1286	CLIP-seq
MIRT813378	hsa-miR-1297	CLIP-seq
MIRT813379	hsa-miR-1307	CLIP-seq
MIRT813380	hsa-miR-150	CLIP-seq
MIRT813381	hsa-miR-1908	CLIP-seq
MIRT813382	hsa-miR-1915	CLIP-seq
MIRT813383	hsa-miR-1976	CLIP-seq
MIRT813384	hsa-miR-26a	CLIP-seq
MIRT813385	hsa-miR-26b	CLIP-seq
MIRT813386	hsa-miR-3135b	CLIP-seq
MIRT813387	hsa-miR-3143	CLIP-seq
MIRT813388	hsa-miR-3194-3p	CLIP-seq
MIRT813389	hsa-miR-3622a-5p	CLIP-seq
MIRT813390	hsa-miR-3652	CLIP-seq
MIRT813391	hsa-miR-3674	CLIP-seq
MIRT813392	hsa-miR-4279	CLIP-seq
MIRT813393	hsa-miR-4284	CLIP-seq
MIRT813394	hsa-miR-431	CLIP-seq
MIRT813395	hsa-miR-4423-3p	CLIP-seq
MIRT813396	hsa-miR-4430	CLIP-seq
MIRT813397	hsa-miR-4436b-5p	CLIP-seq
MIRT813398	hsa-miR-4465	CLIP-seq
MIRT813399	hsa-miR-4638-5p	CLIP-seq
MIRT813400	hsa-miR-4707-5p	CLIP-seq
MIRT813401	hsa-miR-4717-3p	CLIP-seq
MIRT813402	hsa-miR-4722-3p	CLIP-seq
MIRT813403	hsa-miR-4726-3p	CLIP-seq
MIRT813404	hsa-miR-4730	CLIP-seq
MIRT813405	hsa-miR-4736	CLIP-seq
MIRT813406	hsa-miR-4762-5p	CLIP-seq
MIRT813407	hsa-miR-4763-3p	CLIP-seq
MIRT813408	hsa-miR-4772-3p	CLIP-seq
MIRT813409	hsa-miR-515-5p	CLIP-seq
MIRT813410	hsa-miR-564	CLIP-seq
MIRT813411	hsa-miR-654-3p	CLIP-seq
MIRT813412	hsa-miR-663	CLIP-seq
MIRT813413	hsa-miR-711	CLIP-seq
MIRT813373	hsa-miR-122	CLIP-seq
MIRT1940457	hsa-miR-1265	CLIP-seq
MIRT1940458	hsa-miR-1273f	CLIP-seq
MIRT813376	hsa-miR-1281	CLIP-seq
MIRT813379	hsa-miR-1307	CLIP-seq
MIRT813386	hsa-miR-3135b	CLIP-seq
MIRT813388	hsa-miR-3194-3p	CLIP-seq
MIRT813390	hsa-miR-3652	CLIP-seq
MIRT813393	hsa-miR-4284	CLIP-seq
MIRT813394	hsa-miR-431	CLIP-seq
MIRT813396	hsa-miR-4430	CLIP-seq
MIRT1940459	hsa-miR-4534	CLIP-seq
MIRT813399	hsa-miR-4638-5p	CLIP-seq
MIRT813408	hsa-miR-4772-3p	CLIP-seq
MIRT813410	hsa-miR-564	CLIP-seq
MIRT813373	hsa-miR-122	CLIP-seq
MIRT2179440	hsa-miR-128	CLIP-seq
MIRT813376	hsa-miR-1281	CLIP-seq
MIRT813378	hsa-miR-1297	CLIP-seq
MIRT813379	hsa-miR-1307	CLIP-seq
MIRT2179441	hsa-miR-140-3p	CLIP-seq
MIRT813380	hsa-miR-150	CLIP-seq
MIRT813382	hsa-miR-1915	CLIP-seq
MIRT813383	hsa-miR-1976	CLIP-seq
MIRT813384	hsa-miR-26a	CLIP-seq
MIRT813385	hsa-miR-26b	CLIP-seq
MIRT813386	hsa-miR-3135b	CLIP-seq
MIRT2179442	hsa-miR-3144-5p	CLIP-seq
MIRT813388	hsa-miR-3194-3p	CLIP-seq
MIRT813390	hsa-miR-3652	CLIP-seq
MIRT2179443	hsa-miR-3659	CLIP-seq
MIRT2179444	hsa-miR-3692	CLIP-seq
MIRT2179445	hsa-miR-3911	CLIP-seq
MIRT813392	hsa-miR-4279	CLIP-seq
MIRT813393	hsa-miR-4284	CLIP-seq
MIRT813394	hsa-miR-431	CLIP-seq
MIRT813396	hsa-miR-4430	CLIP-seq
MIRT813397	hsa-miR-4436b-5p	CLIP-seq
MIRT813398	hsa-miR-4465	CLIP-seq
MIRT813399	hsa-miR-4638-5p	CLIP-seq
MIRT2179446	hsa-miR-4658	CLIP-seq
MIRT813402	hsa-miR-4722-3p	CLIP-seq
MIRT813403	hsa-miR-4726-3p	CLIP-seq
MIRT813408	hsa-miR-4772-3p	CLIP-seq
MIRT813410	hsa-miR-564	CLIP-seq
MIRT2179447	hsa-miR-574-5p	CLIP-seq
MIRT813373	hsa-miR-122	CLIP-seq
MIRT813379	hsa-miR-1307	CLIP-seq
MIRT813386	hsa-miR-3135b	CLIP-seq
MIRT813388	hsa-miR-3194-3p	CLIP-seq
MIRT813390	hsa-miR-3652	CLIP-seq
MIRT813393	hsa-miR-4284	CLIP-seq
MIRT813396	hsa-miR-4430	CLIP-seq
MIRT813399	hsa-miR-4638-5p	CLIP-seq
MIRT813410	hsa-miR-564	CLIP-seq
MIRT813376	hsa-miR-1281	CLIP-seq
MIRT813378	hsa-miR-1297	CLIP-seq
MIRT813380	hsa-miR-150	CLIP-seq
MIRT813382	hsa-miR-1915	CLIP-seq
MIRT813383	hsa-miR-1976	CLIP-seq
MIRT813384	hsa-miR-26a	CLIP-seq
MIRT813385	hsa-miR-26b	CLIP-seq
MIRT813392	hsa-miR-4279	CLIP-seq
MIRT813398	hsa-miR-4465	CLIP-seq
MIRT813402	hsa-miR-4722-3p	CLIP-seq
MIRT813403	hsa-miR-4726-3p	CLIP-seq
MIRT813373	hsa-miR-122	CLIP-seq
MIRT813376	hsa-miR-1281	CLIP-seq
MIRT813378	hsa-miR-1297	CLIP-seq
MIRT813379	hsa-miR-1307	CLIP-seq
MIRT813380	hsa-miR-150	CLIP-seq
MIRT813382	hsa-miR-1915	CLIP-seq
MIRT813383	hsa-miR-1976	CLIP-seq
MIRT813384	hsa-miR-26a	CLIP-seq
MIRT813385	hsa-miR-26b	CLIP-seq
MIRT813386	hsa-miR-3135b	CLIP-seq
MIRT813390	hsa-miR-3652	CLIP-seq
MIRT813392	hsa-miR-4279	CLIP-seq
MIRT813393	hsa-miR-4284	CLIP-seq
MIRT2482925	hsa-miR-433	CLIP-seq
MIRT813396	hsa-miR-4430	CLIP-seq
MIRT2482926	hsa-miR-4454	CLIP-seq
MIRT813398	hsa-miR-4465	CLIP-seq
MIRT813399	hsa-miR-4638-5p	CLIP-seq
MIRT813402	hsa-miR-4722-3p	CLIP-seq
MIRT813403	hsa-miR-4726-3p	CLIP-seq
MIRT813408	hsa-miR-4772-3p	CLIP-seq
MIRT813410	hsa-miR-564	CLIP-seq
MIRT813373	hsa-miR-122	CLIP-seq
MIRT813376	hsa-miR-1281	CLIP-seq
MIRT813378	hsa-miR-1297	CLIP-seq
MIRT813379	hsa-miR-1307	CLIP-seq
MIRT813380	hsa-miR-150	CLIP-seq
MIRT813382	hsa-miR-1915	CLIP-seq
MIRT813383	hsa-miR-1976	CLIP-seq
MIRT813384	hsa-miR-26a	CLIP-seq
MIRT813385	hsa-miR-26b	CLIP-seq
MIRT813386	hsa-miR-3135b	CLIP-seq
MIRT813390	hsa-miR-3652	CLIP-seq
MIRT813392	hsa-miR-4279	CLIP-seq
MIRT813393	hsa-miR-4284	CLIP-seq
MIRT2482925	hsa-miR-433	CLIP-seq
MIRT813396	hsa-miR-4430	CLIP-seq
MIRT2482926	hsa-miR-4454	CLIP-seq
MIRT813398	hsa-miR-4465	CLIP-seq
MIRT813399	hsa-miR-4638-5p	CLIP-seq
MIRT813402	hsa-miR-4722-3p	CLIP-seq
MIRT813403	hsa-miR-4726-3p	CLIP-seq
MIRT813408	hsa-miR-4772-3p	CLIP-seq
MIRT813410	hsa-miR-564	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IBA
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0005794	Component	Golgi apparatus	IEA
GO:0006486	Process	Protein glycosylation	IEA
GO:0006493	Process	Protein O-linked glycosylation	IBA
GO:0008194	Function	UDP-glycosyltransferase activity	IBA
GO:0008378	Function	Galactosyltransferase activity	IBA
GO:0008378	Function	Galactosyltransferase activity	IDA	11821425
GO:0008499	Function	N-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activity	IEA
GO:0008499	Function	N-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activity	TAS
GO:0009101	Process	Glycoprotein biosynthetic process	NAS	11821425
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	11821425
GO:0016266	Process	Protein O-linked glycosylation via N-acetyl-galactosamine	IEA
GO:0016266	Process	Protein O-linked glycosylation via N-acetyl-galactosamine	NAS	11821425
GO:0016266	Process	Protein O-linked glycosylation via N-acetyl-galactosamine	TAS
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0016758	Function	Hexosyltransferase activity	IEA
GO:0030311	Process	Poly-N-acetyllactosamine biosynthetic process	IBA
GO:0047223	Function	Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity	NAS	11821425
GO:0047224	Function	Acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity	IEA

Other IDs

• MIM: 615315
• HGNC: 24141
• e!Ensembl: ENSG00000198488

Protein

• UniProt ID: Q6ZMB0
• Protein name: Acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase (EC 2.4.1.147) (Core 3 synthase) (UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6) (BGnT-6) (Beta-1,3-Gn-T6) (Beta-1,3-N-acetylglucosaminyltransferase 6) (
• Protein function: Beta-1,3-N-acetylglucosaminyltransferase that synthesizes the core 3 structure of the O-glycan, an important precursor in the biosynthesis of mucin-type glycoproteins. Plays an important role in the synthesis of mucin-type O-glycans in digestive
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01762	Galactosyl_T	131 → 327	Galactosyltransferase	Family

• Tissue specificity: TISSUE SPECIFICITY: Present in stomach and colon (at protein level). Restricted in the stomach, colon and small intestine, where core 3 structure is present. {ECO:0000269|PubMed:15755813}.
• Sequence:

  MAFPCRRSLTAKTLACLLVGVSFLALQQWFLQAPRSPREERSPQEETPEGPTDAPAADEP
  PSELVPGPPCVANASANATADFEQLPARIQDFLRYRHCRHFPLLWDAPAKCAGGRGVFLL
  LAVKSAPEHYERRELIRRTWGQERSYGGRPVRRLFLLGTPGPEDEARAERLAELVALEAR
  EHGDVLQWAFADTFLNLTLKHLHLLDWLAARCPHARFLLSGDDDVFVHTANVVRFLQAQP
  PGRHLFSGQLMEGSVPIRDSWSKYFVPPQLFPGSAYPVYCSGGGFLLSGPTARALRAAAR
  HTPLFPIDDAYMGMCLERAGLAPSGHEGIRPFGVQLPGAQQSSFDPCMYRELLLVHRFAP
  YEMLLMWKALHSPALSCDRGHRVS

• Sequence length: 384

Pathways

KEGG:

Mucin type O-glycan biosynthesis
Metabolic pathways

Reactome:

O-linked glycosylation of mucins

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
Childhood-onset schizophrenia	Likely pathogenic	rs781821239	RCV000202346	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
SCHIZOPHRENIA, CHILDHOOD	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	15755813		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	15755813		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	33253272	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	33253272	Associate	★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	35387659	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	15755813		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28745318		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	15755813		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24189147, 36855796	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35387659	Inhibit	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	23754791		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	26512949		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23754791		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23754791		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	23754791		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	23754791		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	23754791	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	26512949		★☆☆☆☆ Found in Text Mining only
Schizophrenia, Childhood	Schizophrenia	CLINVAR_DG	26508570		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Cervical Dysplasia	Uterine disease	Pubtator	33253272	Associate	★☆☆☆☆ Found in Text Mining only