B3GALNT1 (beta-1,3-N-acetylgalactosaminyltransferase 1 (Globoside blood group))

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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 8706
• Gene name: Beta-1,3-N-acetylgalactosaminyltransferase 1 (Globoside blood group)
• Gene symbol: B3GALNT1
• Synonyms (NCBI Gene): 3-GalNAc-T1, 3-GalTase, B3GALANT1, B3GALT3, GLCT3, GLOB, Gb4Cer, P1, b3Gal-T3, beta-1, beta-3-Gx-T3, beta3Gal-T3, galT3
• Chromosome: 3
• Chromosome location: 3q26.1
• Summary: This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28937582	T>G	Affects	Genic downstream transcript variant, missense variant, coding sequence variant
rs104893683	C>A,T	Affects	Missense variant, coding sequence variant, genic downstream transcript variant
rs200235398	G>A,T	Affects	Downstream transcript variant, genic downstream transcript variant, coding sequence variant, synonymous variant, stop gained
rs751995528	->T	Affects	Frameshift variant, coding sequence variant, genic downstream transcript variant

miRNA Show/Hide all (300)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004161	hsa-miR-192-5p	Microarray	16822819
MIRT019962	hsa-miR-375	Microarray	20215506
MIRT024506	hsa-miR-215-5p	Microarray	19074876
MIRT024506	hsa-miR-215-5p	Microarray	19074876
MIRT024506	hsa-miR-215-5p	Microarray	19074876
MIRT024506	hsa-miR-215-5p	Microarray	19074876
MIRT004161	hsa-miR-192-5p	Microarray	19074876
MIRT030909	hsa-miR-21-5p	Microarray	18591254
MIRT710871	hsa-miR-890	HITS-CLIP	19536157
MIRT710870	hsa-miR-4639-3p	HITS-CLIP	19536157
MIRT710869	hsa-miR-130b-5p	HITS-CLIP	19536157
MIRT710868	hsa-miR-412-3p	HITS-CLIP	19536157
MIRT710867	hsa-miR-6754-3p	HITS-CLIP	19536157
MIRT710866	hsa-miR-6837-3p	HITS-CLIP	19536157
MIRT710865	hsa-miR-942-5p	HITS-CLIP	19536157
MIRT710864	hsa-miR-3124-3p	HITS-CLIP	19536157
MIRT710863	hsa-miR-6794-3p	HITS-CLIP	19536157
MIRT710862	hsa-miR-4753-3p	HITS-CLIP	19536157
MIRT710861	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT647653	hsa-miR-548ac	HITS-CLIP	23824327
MIRT647652	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT647651	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT647650	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT647649	hsa-miR-548z	HITS-CLIP	23824327
MIRT647648	hsa-miR-548p	HITS-CLIP	23824327
MIRT647647	hsa-miR-6083	HITS-CLIP	23824327
MIRT710871	hsa-miR-890	HITS-CLIP	19536157
MIRT710870	hsa-miR-4639-3p	HITS-CLIP	19536157
MIRT710869	hsa-miR-130b-5p	HITS-CLIP	19536157
MIRT710868	hsa-miR-412-3p	HITS-CLIP	19536157
MIRT710867	hsa-miR-6754-3p	HITS-CLIP	19536157
MIRT710866	hsa-miR-6837-3p	HITS-CLIP	19536157
MIRT710865	hsa-miR-942-5p	HITS-CLIP	19536157
MIRT710864	hsa-miR-3124-3p	HITS-CLIP	19536157
MIRT710863	hsa-miR-6794-3p	HITS-CLIP	19536157
MIRT710862	hsa-miR-4753-3p	HITS-CLIP	19536157
MIRT710861	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT647653	hsa-miR-548ac	HITS-CLIP	23824327
MIRT647652	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT647651	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT647650	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT647649	hsa-miR-548z	HITS-CLIP	23824327
MIRT647648	hsa-miR-548p	HITS-CLIP	23824327
MIRT647647	hsa-miR-6083	HITS-CLIP	23824327
MIRT812752	hsa-miR-1226	CLIP-seq
MIRT812753	hsa-miR-1237	CLIP-seq
MIRT812754	hsa-miR-1248	CLIP-seq
MIRT812755	hsa-miR-140-3p	CLIP-seq
MIRT812756	hsa-miR-141	CLIP-seq
MIRT812757	hsa-miR-15a	CLIP-seq
MIRT812758	hsa-miR-15b	CLIP-seq
MIRT812759	hsa-miR-16	CLIP-seq
MIRT812760	hsa-miR-195	CLIP-seq
MIRT812761	hsa-miR-200a	CLIP-seq
MIRT812762	hsa-miR-2052	CLIP-seq
MIRT812763	hsa-miR-21	CLIP-seq
MIRT812764	hsa-miR-3119	CLIP-seq
MIRT812765	hsa-miR-3174	CLIP-seq
MIRT812766	hsa-miR-337-5p	CLIP-seq
MIRT812767	hsa-miR-338-3p	CLIP-seq
MIRT812768	hsa-miR-3692	CLIP-seq
MIRT812769	hsa-miR-371-5p	CLIP-seq
MIRT812770	hsa-miR-3973	CLIP-seq
MIRT812771	hsa-miR-424	CLIP-seq
MIRT812772	hsa-miR-425	CLIP-seq
MIRT812773	hsa-miR-4421	CLIP-seq
MIRT812774	hsa-miR-4464	CLIP-seq
MIRT812775	hsa-miR-4659a-3p	CLIP-seq
MIRT812776	hsa-miR-4659b-3p	CLIP-seq
MIRT812777	hsa-miR-4660	CLIP-seq
MIRT812778	hsa-miR-4684-5p	CLIP-seq
MIRT812779	hsa-miR-4748	CLIP-seq
MIRT812780	hsa-miR-4797-3p	CLIP-seq
MIRT812781	hsa-miR-497	CLIP-seq
MIRT812782	hsa-miR-548ad	CLIP-seq
MIRT812783	hsa-miR-548l	CLIP-seq
MIRT812784	hsa-miR-556-3p	CLIP-seq
MIRT812785	hsa-miR-578	CLIP-seq
MIRT812786	hsa-miR-590-5p	CLIP-seq
MIRT812787	hsa-miR-634	CLIP-seq
MIRT812788	hsa-miR-645	CLIP-seq
MIRT812789	hsa-miR-646	CLIP-seq
MIRT812790	hsa-miR-656	CLIP-seq
MIRT812791	hsa-miR-921	CLIP-seq
MIRT812792	hsa-miR-942	CLIP-seq
MIRT812793	hsa-miR-122	CLIP-seq
MIRT812794	hsa-miR-1323	CLIP-seq
MIRT812795	hsa-miR-190	CLIP-seq
MIRT812796	hsa-miR-190b	CLIP-seq
MIRT812797	hsa-miR-1913	CLIP-seq
MIRT812798	hsa-miR-192	CLIP-seq
MIRT812763	hsa-miR-21	CLIP-seq
MIRT812799	hsa-miR-2117	CLIP-seq
MIRT812800	hsa-miR-215	CLIP-seq
MIRT812801	hsa-miR-3064-3p	CLIP-seq
MIRT812802	hsa-miR-3117-5p	CLIP-seq
MIRT812803	hsa-miR-3120-5p	CLIP-seq
MIRT812804	hsa-miR-323-3p	CLIP-seq
MIRT812805	hsa-miR-324-3p	CLIP-seq
MIRT812806	hsa-miR-3591-3p	CLIP-seq
MIRT812807	hsa-miR-3653	CLIP-seq
MIRT812808	hsa-miR-3658	CLIP-seq
MIRT812809	hsa-miR-369-3p	CLIP-seq
MIRT812810	hsa-miR-374a	CLIP-seq
MIRT812811	hsa-miR-374b	CLIP-seq
MIRT812812	hsa-miR-377	CLIP-seq
MIRT812813	hsa-miR-382	CLIP-seq
MIRT812814	hsa-miR-4282	CLIP-seq
MIRT812815	hsa-miR-4528	CLIP-seq
MIRT812816	hsa-miR-4641	CLIP-seq
MIRT812817	hsa-miR-4670-3p	CLIP-seq
MIRT812818	hsa-miR-4727-5p	CLIP-seq
MIRT812819	hsa-miR-4765	CLIP-seq
MIRT812820	hsa-miR-4768-5p	CLIP-seq
MIRT812821	hsa-miR-4778-5p	CLIP-seq
MIRT812822	hsa-miR-4789-5p	CLIP-seq
MIRT812780	hsa-miR-4797-3p	CLIP-seq
MIRT812823	hsa-miR-548ae	CLIP-seq
MIRT812824	hsa-miR-548aj	CLIP-seq
MIRT812825	hsa-miR-548am	CLIP-seq
MIRT812826	hsa-miR-548o	CLIP-seq
MIRT812827	hsa-miR-548x	CLIP-seq
MIRT812786	hsa-miR-590-5p	CLIP-seq
MIRT812828	hsa-miR-606	CLIP-seq
MIRT812829	hsa-miR-802	CLIP-seq
MIRT1545651	hsa-miR-34a	CLIP-seq
MIRT1545652	hsa-miR-34c-5p	CLIP-seq
MIRT1545653	hsa-miR-449a	CLIP-seq
MIRT1545654	hsa-miR-449b	CLIP-seq
MIRT812795	hsa-miR-190	CLIP-seq
MIRT812796	hsa-miR-190b	CLIP-seq
MIRT1940294	hsa-miR-4517	CLIP-seq
MIRT812788	hsa-miR-645	CLIP-seq
MIRT812792	hsa-miR-942	CLIP-seq
MIRT1940295	hsa-miR-1183	CLIP-seq
MIRT812754	hsa-miR-1248	CLIP-seq
MIRT1940296	hsa-miR-133a	CLIP-seq
MIRT1940297	hsa-miR-133b	CLIP-seq
MIRT812797	hsa-miR-1913	CLIP-seq
MIRT812799	hsa-miR-2117	CLIP-seq
MIRT812802	hsa-miR-3117-5p	CLIP-seq
MIRT812805	hsa-miR-324-3p	CLIP-seq
MIRT1940298	hsa-miR-361-5p	CLIP-seq
MIRT812809	hsa-miR-369-3p	CLIP-seq
MIRT812810	hsa-miR-374a	CLIP-seq
MIRT812811	hsa-miR-374b	CLIP-seq
MIRT1940299	hsa-miR-4287	CLIP-seq
MIRT1940300	hsa-miR-4297	CLIP-seq
MIRT1940301	hsa-miR-4469	CLIP-seq
MIRT812815	hsa-miR-4528	CLIP-seq
MIRT812816	hsa-miR-4641	CLIP-seq
MIRT1940302	hsa-miR-4685-3p	CLIP-seq
MIRT1940303	hsa-miR-4718	CLIP-seq
MIRT812818	hsa-miR-4727-5p	CLIP-seq
MIRT1940304	hsa-miR-4766-3p	CLIP-seq
MIRT812820	hsa-miR-4768-5p	CLIP-seq
MIRT1940305	hsa-miR-4775	CLIP-seq
MIRT812821	hsa-miR-4778-5p	CLIP-seq
MIRT812822	hsa-miR-4789-5p	CLIP-seq
MIRT1940306	hsa-miR-544	CLIP-seq
MIRT1940307	hsa-miR-759	CLIP-seq
MIRT1940295	hsa-miR-1183	CLIP-seq
MIRT2179206	hsa-miR-1225-3p	CLIP-seq
MIRT812752	hsa-miR-1226	CLIP-seq
MIRT2179207	hsa-miR-1233	CLIP-seq
MIRT812754	hsa-miR-1248	CLIP-seq
MIRT2179208	hsa-miR-136	CLIP-seq
MIRT812797	hsa-miR-1913	CLIP-seq
MIRT812799	hsa-miR-2117	CLIP-seq
MIRT812802	hsa-miR-3117-5p	CLIP-seq
MIRT2179209	hsa-miR-3153	CLIP-seq
MIRT812805	hsa-miR-324-3p	CLIP-seq
MIRT812767	hsa-miR-338-3p	CLIP-seq
MIRT1545651	hsa-miR-34a	CLIP-seq
MIRT1545652	hsa-miR-34c-5p	CLIP-seq
MIRT1940298	hsa-miR-361-5p	CLIP-seq
MIRT812809	hsa-miR-369-3p	CLIP-seq
MIRT812810	hsa-miR-374a	CLIP-seq
MIRT812811	hsa-miR-374b	CLIP-seq
MIRT812812	hsa-miR-377	CLIP-seq
MIRT2179210	hsa-miR-3913-3p	CLIP-seq
MIRT2179211	hsa-miR-4261	CLIP-seq
MIRT2179212	hsa-miR-4276	CLIP-seq
MIRT2179213	hsa-miR-4277	CLIP-seq
MIRT2179214	hsa-miR-4280	CLIP-seq
MIRT1940299	hsa-miR-4287	CLIP-seq
MIRT2179215	hsa-miR-4292	CLIP-seq
MIRT1940300	hsa-miR-4297	CLIP-seq
MIRT2179216	hsa-miR-4302	CLIP-seq
MIRT2179217	hsa-miR-4303	CLIP-seq
MIRT2179218	hsa-miR-433	CLIP-seq
MIRT812774	hsa-miR-4464	CLIP-seq
MIRT1545653	hsa-miR-449a	CLIP-seq
MIRT1545654	hsa-miR-449b	CLIP-seq
MIRT812815	hsa-miR-4528	CLIP-seq
MIRT812816	hsa-miR-4641	CLIP-seq
MIRT2179219	hsa-miR-4646-5p	CLIP-seq
MIRT2179220	hsa-miR-4668-5p	CLIP-seq
MIRT1940302	hsa-miR-4685-3p	CLIP-seq
MIRT812818	hsa-miR-4727-5p	CLIP-seq
MIRT2179221	hsa-miR-4729	CLIP-seq
MIRT812779	hsa-miR-4748	CLIP-seq
MIRT812820	hsa-miR-4768-5p	CLIP-seq
MIRT812821	hsa-miR-4778-5p	CLIP-seq
MIRT812822	hsa-miR-4789-5p	CLIP-seq
MIRT2179222	hsa-miR-499-3p	CLIP-seq
MIRT2179223	hsa-miR-499a-3p	CLIP-seq
MIRT1940306	hsa-miR-544	CLIP-seq
MIRT2179224	hsa-miR-616	CLIP-seq
MIRT812787	hsa-miR-634	CLIP-seq
MIRT1940307	hsa-miR-759	CLIP-seq
MIRT2179225	hsa-miR-767-3p	CLIP-seq
MIRT2179226	hsa-miR-885-5p	CLIP-seq
MIRT2482724	hsa-miR-1197	CLIP-seq
MIRT812754	hsa-miR-1248	CLIP-seq
MIRT2482725	hsa-miR-1297	CLIP-seq
MIRT1940296	hsa-miR-133a	CLIP-seq
MIRT1940297	hsa-miR-133b	CLIP-seq
MIRT2179208	hsa-miR-136	CLIP-seq
MIRT2482726	hsa-miR-1827	CLIP-seq
MIRT812797	hsa-miR-1913	CLIP-seq
MIRT812799	hsa-miR-2117	CLIP-seq
MIRT2482727	hsa-miR-26a	CLIP-seq
MIRT2482728	hsa-miR-26b	CLIP-seq
MIRT2482729	hsa-miR-3115	CLIP-seq
MIRT812802	hsa-miR-3117-5p	CLIP-seq
MIRT2482730	hsa-miR-3133	CLIP-seq
MIRT2482731	hsa-miR-3157-3p	CLIP-seq
MIRT2482732	hsa-miR-3160-3p	CLIP-seq
MIRT2482733	hsa-miR-3201	CLIP-seq
MIRT812805	hsa-miR-324-3p	CLIP-seq
MIRT2482734	hsa-miR-335	CLIP-seq
MIRT812766	hsa-miR-337-5p	CLIP-seq
MIRT812809	hsa-miR-369-3p	CLIP-seq
MIRT812810	hsa-miR-374a	CLIP-seq
MIRT812811	hsa-miR-374b	CLIP-seq
MIRT812812	hsa-miR-377	CLIP-seq
MIRT812813	hsa-miR-382	CLIP-seq
MIRT2482735	hsa-miR-3919	CLIP-seq
MIRT812772	hsa-miR-425	CLIP-seq
MIRT1940299	hsa-miR-4287	CLIP-seq
MIRT1940300	hsa-miR-4297	CLIP-seq
MIRT2482736	hsa-miR-4465	CLIP-seq
MIRT1940301	hsa-miR-4469	CLIP-seq
MIRT1940294	hsa-miR-4517	CLIP-seq
MIRT812815	hsa-miR-4528	CLIP-seq
MIRT812816	hsa-miR-4641	CLIP-seq
MIRT2482737	hsa-miR-4662a-3p	CLIP-seq
MIRT812817	hsa-miR-4670-3p	CLIP-seq
MIRT1940302	hsa-miR-4685-3p	CLIP-seq
MIRT812818	hsa-miR-4727-5p	CLIP-seq
MIRT2482738	hsa-miR-4731-3p	CLIP-seq
MIRT2482739	hsa-miR-4756-3p	CLIP-seq
MIRT2482740	hsa-miR-4760-3p	CLIP-seq
MIRT1940304	hsa-miR-4766-3p	CLIP-seq
MIRT812820	hsa-miR-4768-5p	CLIP-seq
MIRT1940305	hsa-miR-4775	CLIP-seq
MIRT812821	hsa-miR-4778-5p	CLIP-seq
MIRT812822	hsa-miR-4789-5p	CLIP-seq
MIRT2482741	hsa-miR-4791	CLIP-seq
MIRT2482742	hsa-miR-4793-5p	CLIP-seq
MIRT2482743	hsa-miR-4801	CLIP-seq
MIRT2482744	hsa-miR-486-5p	CLIP-seq
MIRT2482745	hsa-miR-496	CLIP-seq
MIRT1940306	hsa-miR-544	CLIP-seq
MIRT812782	hsa-miR-548ad	CLIP-seq
MIRT2482746	hsa-miR-548b-3p	CLIP-seq
MIRT2482747	hsa-miR-587	CLIP-seq
MIRT2482748	hsa-miR-590-3p	CLIP-seq
MIRT2482749	hsa-miR-642b	CLIP-seq
MIRT812788	hsa-miR-645	CLIP-seq
MIRT1940307	hsa-miR-759	CLIP-seq
MIRT2179225	hsa-miR-767-3p	CLIP-seq
MIRT2482750	hsa-miR-874	CLIP-seq
MIRT2179226	hsa-miR-885-5p	CLIP-seq
MIRT1940296	hsa-miR-133a	CLIP-seq
MIRT1940297	hsa-miR-133b	CLIP-seq
MIRT2675804	hsa-miR-217	CLIP-seq
MIRT2482730	hsa-miR-3133	CLIP-seq
MIRT2482731	hsa-miR-3157-3p	CLIP-seq
MIRT2482733	hsa-miR-3201	CLIP-seq
MIRT2482735	hsa-miR-3919	CLIP-seq
MIRT2675805	hsa-miR-410	CLIP-seq
MIRT2482739	hsa-miR-4756-3p	CLIP-seq
MIRT2482740	hsa-miR-4760-3p	CLIP-seq
MIRT1940304	hsa-miR-4766-3p	CLIP-seq
MIRT1940305	hsa-miR-4775	CLIP-seq
MIRT2482741	hsa-miR-4791	CLIP-seq
MIRT2482742	hsa-miR-4793-5p	CLIP-seq
MIRT2482744	hsa-miR-486-5p	CLIP-seq
MIRT1940306	hsa-miR-544	CLIP-seq
MIRT2675806	hsa-miR-548a-3p	CLIP-seq
MIRT2482746	hsa-miR-548b-3p	CLIP-seq
MIRT2675807	hsa-miR-548e	CLIP-seq
MIRT2675808	hsa-miR-548f	CLIP-seq
MIRT2482747	hsa-miR-587	CLIP-seq
MIRT2675809	hsa-miR-618	CLIP-seq
MIRT2482749	hsa-miR-642b	CLIP-seq
MIRT812788	hsa-miR-645	CLIP-seq
MIRT2482750	hsa-miR-874	CLIP-seq

Gene ontology (GO) Show/Hide all (18)

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:0006629	Process	Lipid metabolic process	IEA
GO:0006688	Process	Glycosphingolipid biosynthetic process	TAS
GO:0008499	Function	N-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activity	IBA
GO:0008499	Function	N-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activity	IEA
GO:0009312	Process	Oligosaccharide biosynthetic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0016758	Function	Hexosyltransferase activity	IEA
GO:0047273	Function	Galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity	IEA
GO:0047273	Function	Galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity	TAS
GO:1901137	Process	Carbohydrate derivative biosynthetic process	IEA

Other IDs

• MIM: 603094
• HGNC: 918
• e!Ensembl: ENSG00000169255

Protein

• UniProt ID: O75752
• Protein name: UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 (Beta-1,3-GalNAc-T1) (EC 2.4.1.79) (Beta-1,3-galactosyltransferase 3) (Beta-1,3-GalTase 3) (Beta3Gal-T3) (Beta3GalT3) (b3Gal-T3) (Beta-3-Gx-T3) (Galactosylgalactosylglucosylceramide beta-D-acetyl-gal
• Protein function: Transfers N-acetylgalactosamine onto globotriaosylceramide (PubMed:10993897). Plays a critical role in preimplantation stage embryonic development (By similarity).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01762	Galactosyl_T	92 → 285	Galactosyltransferase	Family

• Tissue specificity: TISSUE SPECIFICITY: Higher expression in heart and brain, and to a lesser extent in lung, placenta, kidney and testis. Lower expression in liver, spleen and stomach. No expression in skeletal muscle. {ECO:0000269|PubMed:10993897, ECO:0000269|PubMed:958230
• Sequence:

  MASALWTVLPSRMSLRSLKWSLLLLSLLSFFVMWYLSLPHYNVIERVNWMYFYEYEPIYR
  QDFHFTLREHSNCSHQNPFLVILVTSHPSDVKARQAIRVTWGEKKSWWGYEVLTFFLLGQ
  EAEKEDKMLALSLEDEHLLYGDIIRQDFLDTYNNLTLKTIMAFRWVTEFCPNAKYVMKTD
  TDVFINTGNLVKYLLNLNHSEKFFTGYPLIDNYSYRGFYQKTHISYQEYPFKVFPPYCSG
  LGYIMSRDLVPRIYEMMGHVKPIKFEDVYVGICLNLLKVNIHIPEDTNLFFLYRIHLDVC
  QLRRVIAAHGFSSKEIITFWQVMLRNTTCHY

• Sequence length: 331

Pathways

KEGG Pathway	Reactome Pathway
Glycosphingolipid biosynthesis - lacto and neolacto series	Glycosphingolipid metabolism
Glycosphingolipid biosynthesis - globo and isoglobo series
Metabolic pathways

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)

Unknown / Other Associations Show/Hide Unknown Diseases (14)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B3GALNT1-related disorder	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
p phenotype	Affects	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (8)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Brain Neoplasms	Brain Neoplasms	BEFREE	12434293		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	12434293	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32680999	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35955933	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	30476082		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22944681		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	25521548		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	22944681		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

A4GALT 2 shared pathwaysGlycosphingolipid biosynthesis - lacto and neolacto series, Glycosphingolipid biosynthesis - globo and isoglobo series Related via 2 shared pathways including Glycosphingolipid biosynthesis - lacto and neolacto series, Glycosphingolipid biosynthesis - globo and isoglobo series. B3GALT5 2 shared pathwaysGlycosphingolipid biosynthesis - lacto and neolacto series, Glycosphingolipid biosynthesis - globo and isoglobo series Related via 2 shared pathways including Glycosphingolipid biosynthesis - lacto and neolacto series, Glycosphingolipid biosynthesis - globo and isoglobo series. FUT1 2 shared pathwaysGlycosphingolipid biosynthesis - lacto and neolacto series, Glycosphingolipid biosynthesis - globo and isoglobo series Related via 2 shared pathways including Glycosphingolipid biosynthesis - lacto and neolacto series, Glycosphingolipid biosynthesis - globo and isoglobo series. ABO 2 shared pathwaysGlycosphingolipid biosynthesis - lacto and neolacto series, Glycosphingolipid biosynthesis - globo and isoglobo series Related via 2 shared pathways including Glycosphingolipid biosynthesis - lacto and neolacto series, Glycosphingolipid biosynthesis - globo and isoglobo series. FUT9 2 shared pathwaysGlycosphingolipid biosynthesis - lacto and neolacto series, Glycosphingolipid biosynthesis - globo and isoglobo series Related via 2 shared pathways including Glycosphingolipid biosynthesis - lacto and neolacto series, Glycosphingolipid biosynthesis - globo and isoglobo series.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
A4GALT	0	[]	2	["Glycosphingolipid biosynthesis - lacto and neolacto series","Glycosphingolipid biosynthesis - globo and isoglobo series"]	0	[]
B3GALT5	0	[]	2	["Glycosphingolipid biosynthesis - lacto and neolacto series","Glycosphingolipid biosynthesis - globo and isoglobo series"]	0	[]
FUT1	0	[]	2	["Glycosphingolipid biosynthesis - lacto and neolacto series","Glycosphingolipid biosynthesis - globo and isoglobo series"]	0	[]
ABO	0	[]	2	["Glycosphingolipid biosynthesis - lacto and neolacto series","Glycosphingolipid biosynthesis - globo and isoglobo series"]	0	[]
FUT9	0	[]	2	["Glycosphingolipid biosynthesis - lacto and neolacto series","Glycosphingolipid biosynthesis - globo and isoglobo series"]	0	[]

Diseases Linked via Similar Genes

Breast cancer Linked via 2 of 5 related genesA4GALT, ABO Venous thromboembolism Linked via 2 of 5 related genesA4GALT, ABO Asthma Linked via 2 of 5 related genesB3GALT5, ABO Gout Linked via 2 of 5 related genesB3GALT5, ABO Major depressive disorder Linked via 2 of 5 related genesB3GALT5, ABO

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Breast cancer	2	["A4GALT","ABO"]
Venous thromboembolism	2	["A4GALT","ABO"]
Asthma	2	["B3GALT5","ABO"]
Gout	2	["B3GALT5","ABO"]
Major depressive disorder	2	["B3GALT5","ABO"]