B4GALT7 (beta-1,4-galactosyltransferase 7)

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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: 11285
• Gene name: Beta-1,4-galactosyltransferase 7
• Gene symbol: B4GALT7
• Synonyms (NCBI Gene): EDSP1, EDSSLA, EDSSPD1, XGALT1, XGPT, XGPT1
• Chromosome: 5
• Chromosome location: 5q35.3
• Summary: This gene is a member of the beta-1,4-galactosyltransferase (beta4GalT) family. Family members encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose. Each beta4GalT member has a distinc

SNPs Show/Hide all (10)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28937869	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs121917817	C>A	Pathogenic	Coding sequence variant, missense variant
rs121917818	T>C	Pathogenic	Coding sequence variant, missense variant
rs142476892	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, 5 prime UTR variant
rs187063864	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs200503833	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, 5 prime UTR variant, genic upstream transcript variant, stop gained
rs375845310	T>C	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs753594601	G>A	Pathogenic	Missense variant, coding sequence variant
rs879255634	CCC>-,CC,CCCC	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, inframe deletion
rs1064796683	T>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant

miRNA Show/Hide all (222)

miRTarBase ID	miRNA	Experiments	Reference
MIRT036015	hsa-miR-1301-3p	CLASH	23622248
MIRT697141	hsa-miR-1910-3p	HITS-CLIP	23313552
MIRT697140	hsa-miR-6511a-5p	HITS-CLIP	23313552
MIRT682062	hsa-miR-4257	HITS-CLIP	23313552
MIRT682061	hsa-miR-1247-3p	HITS-CLIP	23313552
MIRT448199	hsa-miR-1827	HITS-CLIP	23313552
MIRT697139	hsa-miR-377-5p	HITS-CLIP	23313552
MIRT697138	hsa-miR-6086	HITS-CLIP	23313552
MIRT697137	hsa-miR-298	HITS-CLIP	23313552
MIRT682059	hsa-miR-2467-3p	HITS-CLIP	23313552
MIRT682058	hsa-miR-3612	HITS-CLIP	23313552
MIRT682057	hsa-miR-650	HITS-CLIP	23313552
MIRT682056	hsa-miR-4684-3p	HITS-CLIP	23313552
MIRT697136	hsa-miR-6765-5p	HITS-CLIP	23313552
MIRT682055	hsa-miR-106a-3p	HITS-CLIP	23313552
MIRT697135	hsa-miR-1304-5p	HITS-CLIP	23313552
MIRT686140	hsa-miR-548c-3p	HITS-CLIP	23313552
MIRT686139	hsa-miR-495-5p	HITS-CLIP	23313552
MIRT686138	hsa-miR-382-5p	HITS-CLIP	23313552
MIRT686137	hsa-miR-4259	HITS-CLIP	23313552
MIRT686131	hsa-miR-3147	HITS-CLIP	23313552
MIRT686129	hsa-miR-4674	HITS-CLIP	23313552
MIRT686128	hsa-miR-1587	HITS-CLIP	23313552
MIRT686127	hsa-miR-3620-5p	HITS-CLIP	23313552
MIRT686140	hsa-miR-548c-3p	HITS-CLIP	23313552
MIRT686139	hsa-miR-495-5p	HITS-CLIP	23313552
MIRT686138	hsa-miR-382-5p	HITS-CLIP	23313552
MIRT686137	hsa-miR-4259	HITS-CLIP	23313552
MIRT686136	hsa-miR-339-5p	HITS-CLIP	23313552
MIRT686135	hsa-miR-4421	HITS-CLIP	23313552
MIRT686134	hsa-miR-5699-3p	HITS-CLIP	23313552
MIRT686133	hsa-miR-6895-3p	HITS-CLIP	23313552
MIRT686132	hsa-miR-593-3p	HITS-CLIP	23313552
MIRT686131	hsa-miR-3147	HITS-CLIP	23313552
MIRT686130	hsa-miR-4684-5p	HITS-CLIP	23313552
MIRT686129	hsa-miR-4674	HITS-CLIP	23313552
MIRT686128	hsa-miR-1587	HITS-CLIP	23313552
MIRT686127	hsa-miR-3620-5p	HITS-CLIP	23313552
MIRT686126	hsa-miR-6818-3p	HITS-CLIP	23313552
MIRT682062	hsa-miR-4257	HITS-CLIP	23706177
MIRT682061	hsa-miR-1247-3p	HITS-CLIP	23706177
MIRT682060	hsa-miR-4537	HITS-CLIP	23706177
MIRT682059	hsa-miR-2467-3p	HITS-CLIP	23706177
MIRT682058	hsa-miR-3612	HITS-CLIP	23706177
MIRT682057	hsa-miR-650	HITS-CLIP	23706177
MIRT682056	hsa-miR-4684-3p	HITS-CLIP	23706177
MIRT682055	hsa-miR-106a-3p	HITS-CLIP	23706177
MIRT448204	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT448205	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT448203	hsa-miR-940	HITS-CLIP	23824327
MIRT448202	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT448200	hsa-miR-4635	HITS-CLIP	23824327
MIRT448198	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT632180	hsa-miR-7977	HITS-CLIP	23824327
MIRT462849	hsa-miR-3914	PAR-CLIP	23592263
MIRT462848	hsa-miR-148a-3p	PAR-CLIP	23592263
MIRT462847	hsa-miR-148b-3p	PAR-CLIP	23592263
MIRT462846	hsa-miR-152-3p	PAR-CLIP	23592263
MIRT462845	hsa-miR-1825	PAR-CLIP	23592263
MIRT462844	hsa-miR-361-3p	PAR-CLIP	23592263
MIRT462842	hsa-miR-3665	PAR-CLIP	23592263
MIRT462843	hsa-miR-657	PAR-CLIP	23592263
MIRT462840	hsa-miR-4533	PAR-CLIP	23592263
MIRT462841	hsa-miR-3978	PAR-CLIP	23592263
MIRT448204	hsa-miR-6808-5p	PAR-CLIP	22100165
MIRT448205	hsa-miR-6893-5p	PAR-CLIP	22100165
MIRT448203	hsa-miR-940	PAR-CLIP	22100165
MIRT448202	hsa-miR-4768-3p	PAR-CLIP	22100165
MIRT448201	hsa-miR-4649-3p	PAR-CLIP	22100165
MIRT448200	hsa-miR-4635	PAR-CLIP	22100165
MIRT448199	hsa-miR-1827	PAR-CLIP	22100165
MIRT448198	hsa-miR-4722-5p	PAR-CLIP	22100165
MIRT448197	hsa-miR-7160-5p	PAR-CLIP	22100165
MIRT448204	hsa-miR-6808-5p	PAR-CLIP	22100165
MIRT448205	hsa-miR-6893-5p	PAR-CLIP	22100165
MIRT448203	hsa-miR-940	PAR-CLIP	22100165
MIRT448202	hsa-miR-4768-3p	PAR-CLIP	22100165
MIRT448201	hsa-miR-4649-3p	PAR-CLIP	22100165
MIRT448200	hsa-miR-4635	PAR-CLIP	22100165
MIRT448199	hsa-miR-1827	PAR-CLIP	22100165
MIRT448198	hsa-miR-4722-5p	PAR-CLIP	22100165
MIRT448197	hsa-miR-7160-5p	PAR-CLIP	22100165
MIRT682055	hsa-miR-106a-3p	PAR-CLIP	27292025
MIRT682055	hsa-miR-106a-3p	PAR-CLIP	27292025
MIRT682061	hsa-miR-1247-3p	PAR-CLIP	27292025
MIRT682061	hsa-miR-1247-3p	PAR-CLIP	27292025
MIRT448199	hsa-miR-1827	PAR-CLIP	27292025
MIRT697141	hsa-miR-1910-3p	PAR-CLIP	27292025
MIRT682059	hsa-miR-2467-3p	PAR-CLIP	27292025
MIRT682059	hsa-miR-2467-3p	PAR-CLIP	27292025
MIRT682058	hsa-miR-3612	PAR-CLIP	27292025
MIRT682058	hsa-miR-3612	PAR-CLIP	27292025
MIRT697139	hsa-miR-377-5p	PAR-CLIP	27292025
MIRT697139	hsa-miR-377-5p	PAR-CLIP	27292025
MIRT682062	hsa-miR-4257	PAR-CLIP	27292025
MIRT682062	hsa-miR-4257	PAR-CLIP	27292025
MIRT682060	hsa-miR-4537	PAR-CLIP	27292025
MIRT682060	hsa-miR-4537	PAR-CLIP	27292025
MIRT682056	hsa-miR-4684-3p	PAR-CLIP	27292025
MIRT682056	hsa-miR-4684-3p	PAR-CLIP	27292025
MIRT697138	hsa-miR-6086	PAR-CLIP	27292025
MIRT697138	hsa-miR-6086	PAR-CLIP	27292025
MIRT682057	hsa-miR-650	PAR-CLIP	27292025
MIRT682057	hsa-miR-650	PAR-CLIP	27292025
MIRT697140	hsa-miR-6511a-5p	PAR-CLIP	27292025
MIRT697141	hsa-miR-1910-3p	HITS-CLIP	23313552
MIRT697140	hsa-miR-6511a-5p	HITS-CLIP	23313552
MIRT682062	hsa-miR-4257	HITS-CLIP	23313552
MIRT682061	hsa-miR-1247-3p	HITS-CLIP	23313552
MIRT448199	hsa-miR-1827	HITS-CLIP	23313552
MIRT697139	hsa-miR-377-5p	HITS-CLIP	23313552
MIRT697138	hsa-miR-6086	HITS-CLIP	23313552
MIRT697137	hsa-miR-298	HITS-CLIP	23313552
MIRT682059	hsa-miR-2467-3p	HITS-CLIP	23313552
MIRT682058	hsa-miR-3612	HITS-CLIP	23313552
MIRT682057	hsa-miR-650	HITS-CLIP	23313552
MIRT682056	hsa-miR-4684-3p	HITS-CLIP	23313552
MIRT697136	hsa-miR-6765-5p	HITS-CLIP	23313552
MIRT682055	hsa-miR-106a-3p	HITS-CLIP	23313552
MIRT697135	hsa-miR-1304-5p	HITS-CLIP	23313552
MIRT686140	hsa-miR-548c-3p	HITS-CLIP	23313552
MIRT686139	hsa-miR-495-5p	HITS-CLIP	23313552
MIRT686138	hsa-miR-382-5p	HITS-CLIP	23313552
MIRT686137	hsa-miR-4259	HITS-CLIP	23313552
MIRT686131	hsa-miR-3147	HITS-CLIP	23313552
MIRT686129	hsa-miR-4674	HITS-CLIP	23313552
MIRT686128	hsa-miR-1587	HITS-CLIP	23313552
MIRT686127	hsa-miR-3620-5p	HITS-CLIP	23313552
MIRT686140	hsa-miR-548c-3p	HITS-CLIP	23313552
MIRT686139	hsa-miR-495-5p	HITS-CLIP	23313552
MIRT686138	hsa-miR-382-5p	HITS-CLIP	23313552
MIRT686137	hsa-miR-4259	HITS-CLIP	23313552
MIRT686136	hsa-miR-339-5p	HITS-CLIP	23313552
MIRT686135	hsa-miR-4421	HITS-CLIP	23313552
MIRT686134	hsa-miR-5699-3p	HITS-CLIP	23313552
MIRT686133	hsa-miR-6895-3p	HITS-CLIP	23313552
MIRT686132	hsa-miR-593-3p	HITS-CLIP	23313552
MIRT686131	hsa-miR-3147	HITS-CLIP	23313552
MIRT686130	hsa-miR-4684-5p	HITS-CLIP	23313552
MIRT686129	hsa-miR-4674	HITS-CLIP	23313552
MIRT686128	hsa-miR-1587	HITS-CLIP	23313552
MIRT686127	hsa-miR-3620-5p	HITS-CLIP	23313552
MIRT686126	hsa-miR-6818-3p	HITS-CLIP	23313552
MIRT682062	hsa-miR-4257	HITS-CLIP	23706177
MIRT682061	hsa-miR-1247-3p	HITS-CLIP	23706177
MIRT682060	hsa-miR-4537	HITS-CLIP	23706177
MIRT682059	hsa-miR-2467-3p	HITS-CLIP	23706177
MIRT682058	hsa-miR-3612	HITS-CLIP	23706177
MIRT682057	hsa-miR-650	HITS-CLIP	23706177
MIRT682056	hsa-miR-4684-3p	HITS-CLIP	23706177
MIRT682055	hsa-miR-106a-3p	HITS-CLIP	23706177
MIRT448204	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT448205	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT448203	hsa-miR-940	HITS-CLIP	23824327
MIRT448202	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT448200	hsa-miR-4635	HITS-CLIP	23824327
MIRT448198	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT632180	hsa-miR-7977	HITS-CLIP	23824327
MIRT462849	hsa-miR-3914	PAR-CLIP	23592263
MIRT462848	hsa-miR-148a-3p	PAR-CLIP	23592263
MIRT462847	hsa-miR-148b-3p	PAR-CLIP	23592263
MIRT462846	hsa-miR-152-3p	PAR-CLIP	23592263
MIRT462845	hsa-miR-1825	PAR-CLIP	23592263
MIRT462844	hsa-miR-361-3p	PAR-CLIP	23592263
MIRT462842	hsa-miR-3665	PAR-CLIP	23592263
MIRT462843	hsa-miR-657	PAR-CLIP	23592263
MIRT462840	hsa-miR-4533	PAR-CLIP	23592263
MIRT462841	hsa-miR-3978	PAR-CLIP	23592263
MIRT448204	hsa-miR-6808-5p	PAR-CLIP	22100165
MIRT448205	hsa-miR-6893-5p	PAR-CLIP	22100165
MIRT448203	hsa-miR-940	PAR-CLIP	22100165
MIRT448202	hsa-miR-4768-3p	PAR-CLIP	22100165
MIRT448201	hsa-miR-4649-3p	PAR-CLIP	22100165
MIRT448200	hsa-miR-4635	PAR-CLIP	22100165
MIRT448199	hsa-miR-1827	PAR-CLIP	22100165
MIRT448198	hsa-miR-4722-5p	PAR-CLIP	22100165
MIRT448197	hsa-miR-7160-5p	PAR-CLIP	22100165
MIRT448204	hsa-miR-6808-5p	PAR-CLIP	22100165
MIRT448205	hsa-miR-6893-5p	PAR-CLIP	22100165
MIRT448203	hsa-miR-940	PAR-CLIP	22100165
MIRT448202	hsa-miR-4768-3p	PAR-CLIP	22100165
MIRT448201	hsa-miR-4649-3p	PAR-CLIP	22100165
MIRT448200	hsa-miR-4635	PAR-CLIP	22100165
MIRT448199	hsa-miR-1827	PAR-CLIP	22100165
MIRT448198	hsa-miR-4722-5p	PAR-CLIP	22100165
MIRT448197	hsa-miR-7160-5p	PAR-CLIP	22100165
MIRT1940661	hsa-miR-1915	CLIP-seq
MIRT1940662	hsa-miR-31	CLIP-seq
MIRT1940663	hsa-miR-4269	CLIP-seq
MIRT1940664	hsa-miR-4645-5p	CLIP-seq
MIRT1940665	hsa-miR-4673	CLIP-seq
MIRT1940666	hsa-miR-4726-3p	CLIP-seq
MIRT1940667	hsa-miR-503	CLIP-seq
MIRT1940668	hsa-miR-892a	CLIP-seq
MIRT2179642	hsa-miR-1208	CLIP-seq
MIRT2179643	hsa-miR-4729	CLIP-seq
MIRT2179644	hsa-miR-516a-3p	CLIP-seq
MIRT2179645	hsa-miR-579	CLIP-seq
MIRT2483015	hsa-miR-1252	CLIP-seq
MIRT2483016	hsa-miR-214	CLIP-seq
MIRT2483017	hsa-miR-3130-3p	CLIP-seq
MIRT2483018	hsa-miR-3619-5p	CLIP-seq
MIRT2483019	hsa-miR-4476	CLIP-seq
MIRT2483020	hsa-miR-4530	CLIP-seq
MIRT2483021	hsa-miR-4690-3p	CLIP-seq
MIRT2483022	hsa-miR-4711-3p	CLIP-seq
MIRT2483023	hsa-miR-4715-3p	CLIP-seq
MIRT2483024	hsa-miR-4793-3p	CLIP-seq
MIRT2483025	hsa-miR-593	CLIP-seq
MIRT2483026	hsa-miR-761	CLIP-seq
MIRT1940668	hsa-miR-892a	CLIP-seq
MIRT2483016	hsa-miR-214	CLIP-seq
MIRT2483017	hsa-miR-3130-3p	CLIP-seq
MIRT2483018	hsa-miR-3619-5p	CLIP-seq
MIRT2483020	hsa-miR-4530	CLIP-seq
MIRT2483021	hsa-miR-4690-3p	CLIP-seq
MIRT2483022	hsa-miR-4711-3p	CLIP-seq
MIRT2483023	hsa-miR-4715-3p	CLIP-seq
MIRT2483024	hsa-miR-4793-3p	CLIP-seq
MIRT2483025	hsa-miR-593	CLIP-seq
MIRT2483026	hsa-miR-761	CLIP-seq
MIRT1940668	hsa-miR-892a	CLIP-seq

Gene ontology (GO) Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0003831	Function	Beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity	IDA	24052259
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IDA	10506123
GO:0005794	Component	Golgi apparatus	IEA
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006024	Process	Glycosaminoglycan biosynthetic process	IDA	10438455
GO:0006024	Process	Glycosaminoglycan biosynthetic process	IEA
GO:0006029	Process	Proteoglycan metabolic process	IMP	16583246
GO:0006029	Process	Proteoglycan metabolic process	TAS	10473568
GO:0006486	Process	Protein glycosylation	IEA
GO:0006487	Process	Protein N-linked glycosylation	IDA	24052259
GO:0008378	Function	Galactosyltransferase activity	IDA	10506123
GO:0008378	Function	Galactosyltransferase activity	IMP	16583246
GO:0008378	Function	Galactosyltransferase activity	TAS	10473568
GO:0016020	Component	Membrane	IDA	10438455
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0030145	Function	Manganese ion binding	IDA	24052259
GO:0030166	Process	Proteoglycan biosynthetic process	IBA
GO:0030203	Process	Glycosaminoglycan metabolic process	TAS
GO:0032580	Component	Golgi cisterna membrane	IEA
GO:0036211	Process	Protein modification process	TAS	10473568
GO:0046525	Function	Xylosylprotein 4-beta-galactosyltransferase activity	IBA
GO:0046525	Function	Xylosylprotein 4-beta-galactosyltransferase activity	IDA	10438455
GO:0046525	Function	Xylosylprotein 4-beta-galactosyltransferase activity	IEA
GO:0046525	Function	Xylosylprotein 4-beta-galactosyltransferase activity	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0048147	Process	Negative regulation of fibroblast proliferation	IMP	16583246
GO:0070085	Process	Glycosylation	IBA
GO:0097435	Process	Supramolecular fiber organization	IMP	16583246

Other IDs

• MIM: 604327
• HGNC: 930
• e!Ensembl: ENSG00000027847

Protein

• UniProt ID: Q9UBV7
• Protein name: Beta-1,4-galactosyltransferase 7 (Beta-1,4-GalTase 7) (Beta4Gal-T7) (b4Gal-T7) (EC 2.4.1.-) (Proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I) (UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7) (UDP-galactose:beta-N-acetylglucosa
• Protein function: Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small proteoglycans in skin fibroblasts.
• PDB: 4IRP , 4IRQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02709	Glyco_transf_7C	181 → 259	N-terminal domain of galactosyltransferase	Family
  PF13733	Glyco_transf_7N	79 → 177	N-terminal region of glycosyl transferase group 7	Domain

• Tissue specificity: TISSUE SPECIFICITY: High expression in heart, pancreas and liver, medium in placenta and kidney, low in brain, skeletal muscle and lung.
• Sequence:

  MFPSRRKAAQLPWEDGRSGLLSGGLPRKCSVFHLFVACLSLGFFSLLWLQLSCSGDVARA
  VRGQGQETSGPPRACPPEPPPEHWEEDASWGPHRLAVLVPFRERFEELLVFVPHMRRFLS
  RKKIRHHIYVLNQVDHFRFNRAALINVGFLESSNSTDYIAMHDVDLLPLNEELDYGFPEA
  GPFHVASPELHPLYHYKTYVGGILLLSKQHYRLCNGMSNRFWGWGREDDEFYRRIKGAGL
  QLFRPSGITTGYKTFRHLHDPAWRKRDQKRIAAQKQEQFKVDREGGLNTVKYHVASRTAL
  SVGGAPCTVLNIMLDCDKTATPWCTFS

• Sequence length: 327

Pathways

KEGG Pathway	Reactome Pathway
Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate	A tetrasaccharide linker sequence is required for GAG synthesis
Glycosaminoglycan biosynthesis - heparan sulfate / heparin	Defective B4GALT7 causes EDS, progeroid type
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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Ehlers-Danlos syndrome progeroid type	Likely pathogenic; Pathogenic	rs121917817, rs121917818, rs28937869, rs375845310, rs187063864	RCV000005963 RCV000005964 RCV000005965 RCV000210975 RCV000239499	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ehlers-Danlos syndrome, spondylodysplastic type, 1	Pathogenic; Likely pathogenic	rs28937869, rs187063864	RCV002482832 RCV003137853	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Larsen-like syndrome, B3GAT3 type	Pathogenic	rs28937869	RCV000258718	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lethal skeletal dysplasia	Pathogenic	rs28937869	RCV000779599	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spondylodysplastic Ehlers-Danlos syndrome	Likely pathogenic	rs121917817	RCV006268070	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (21)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
B4GALT7-related disorder	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS	—	CTD	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	16759393	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome	Conflicting classifications of pathogenicity; Uncertain significance; Benign	ClinVar CTD, Disgenet CTD, Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EHLERS-DANLOS SYNDROME, PROGEROID FORM	—	CTD	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE	—	GWAS catalog	15211654	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARSEN SYNDROME, DOMINANT TYPE	—	CTD	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME	—	CTD	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance; Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (52)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	Spondylodysplastic Ehlers-Danlos Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	38025683	Associate	★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne Syndrome	BEFREE	15859521		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	24339869		★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 2D	Congenital disorder of glycosylation	BEFREE	11901181		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of clavicle	Short clavicles	HPO_DG			★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

B3GAT3 4 shared diseasesBone fragility with contractures, arterial rupture, and deafness, Craniofacial abnormalities, Larsen syndrome, Osteoporosis-pseudoglioma syndrome 3 shared pathwaysGlycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate, Glycosaminoglycan biosynthesis - heparan sulfate / heparin, A tetrasaccharide linker sequence is required for GAG synthesis 5 shared evidence sourcesCTD (Bone fragility with contractures, arterial rupture, and deafness), CTD (Craniofacial abnormalities), Disgenet (Craniofacial abnormalities), CTD (Larsen syndrome), CTD (Osteoporosis-pseudoglioma syndrome) Related via 4 shared diseases including Bone fragility with contractures, arterial rupture, and deafness, Craniofacial abnormalities — evidence mostly CTD. B3GALT6 4 shared diseasesEhlers-danlos syndrome, Bone fragility with contractures, arterial rupture, and deafness, Larsen syndrome, Osteoporosis-pseudoglioma syndrome 3 shared pathwaysGlycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate, Glycosaminoglycan biosynthesis - heparan sulfate / heparin, A tetrasaccharide linker sequence is required for GAG synthesis 7 shared evidence sourcesCTD (Bone fragility with contractures, arterial rupture, and deafness), Disgenet (Ehlers-danlos syndrome), CTD (Ehlers-danlos syndrome), ClinVar (Ehlers-danlos syndrome), HPO (Ehlers-danlos syndrome), CTD (Larsen syndrome), CTD (Osteoporosis-pseudoglioma syndrome) Related via 4 shared diseases including Ehlers-danlos syndrome, Bone fragility with contractures, arterial rupture, and deafness — evidence mostly CTD. XYLT2 3 shared diseasesBone fragility with contractures, arterial rupture, and deafness, Larsen syndrome, Osteoporosis-pseudoglioma syndrome 3 shared pathwaysGlycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate, Glycosaminoglycan biosynthesis - heparan sulfate / heparin, A tetrasaccharide linker sequence is required for GAG synthesis 3 shared evidence sourcesCTD (Bone fragility with contractures, arterial rupture, and deafness), CTD (Larsen syndrome), CTD (Osteoporosis-pseudoglioma syndrome) Related via 3 shared diseases including Bone fragility with contractures, arterial rupture, and deafness, Larsen syndrome — evidence mostly CTD. P4HA1 3 shared diseasesBone fragility with contractures, arterial rupture, and deafness, Larsen syndrome, Osteoporosis-pseudoglioma syndrome 3 shared evidence sourcesCTD (Bone fragility with contractures, arterial rupture, and deafness), CTD (Larsen syndrome), CTD (Osteoporosis-pseudoglioma syndrome) Related via 3 shared diseases including Bone fragility with contractures, arterial rupture, and deafness, Larsen syndrome — evidence mostly CTD. XYLT1 3 shared diseasesBone fragility with contractures, arterial rupture, and deafness, Larsen syndrome, Osteoporosis-pseudoglioma syndrome 3 shared pathwaysGlycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate, Glycosaminoglycan biosynthesis - heparan sulfate / heparin, A tetrasaccharide linker sequence is required for GAG synthesis 3 shared evidence sourcesCTD (Bone fragility with contractures, arterial rupture, and deafness), CTD (Larsen syndrome), CTD (Osteoporosis-pseudoglioma syndrome) Related via 3 shared diseases including Bone fragility with contractures, arterial rupture, and deafness, Larsen syndrome — evidence mostly CTD.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
B3GAT3	4	["Bone fragility with contractures, arterial rupture, and deafness","Craniofacial abnormalities","Larsen syndrome","Osteoporosis-pseudoglioma syndrome"]	3	["Glycosaminoglycan biosynthesis - chondroitin sulfate \/ dermatan sulfate","Glycosaminoglycan biosynthesis - heparan sulfate \/ heparin","A tetrasaccharide linker sequence is required for GAG synthesis"]	5	["CTD (Bone fragility with contractures, arterial rupture, and deafness)","CTD (Craniofacial abnormalities)","Disgenet (Craniofacial abnormalities)","CTD (Larsen syndrome)","CTD (Osteoporosis-pseudoglioma syndrome)"]
B3GALT6	4	["Ehlers-danlos syndrome","Bone fragility with contractures, arterial rupture, and deafness","Larsen syndrome","Osteoporosis-pseudoglioma syndrome"]	3	["Glycosaminoglycan biosynthesis - chondroitin sulfate \/ dermatan sulfate","Glycosaminoglycan biosynthesis - heparan sulfate \/ heparin","A tetrasaccharide linker sequence is required for GAG synthesis"]	7	["CTD (Bone fragility with contractures, arterial rupture, and deafness)","Disgenet (Ehlers-danlos syndrome)","CTD (Ehlers-danlos syndrome)","ClinVar (Ehlers-danlos syndrome)","HPO (Ehlers-danlos syndrome)","CTD (Larsen syndrome)","CTD (Osteoporosis-pseudoglioma syndrome)"]
XYLT2	3	["Bone fragility with contractures, arterial rupture, and deafness","Larsen syndrome","Osteoporosis-pseudoglioma syndrome"]	3	["Glycosaminoglycan biosynthesis - chondroitin sulfate \/ dermatan sulfate","Glycosaminoglycan biosynthesis - heparan sulfate \/ heparin","A tetrasaccharide linker sequence is required for GAG synthesis"]	3	["CTD (Bone fragility with contractures, arterial rupture, and deafness)","CTD (Larsen syndrome)","CTD (Osteoporosis-pseudoglioma syndrome)"]
P4HA1	3	["Bone fragility with contractures, arterial rupture, and deafness","Larsen syndrome","Osteoporosis-pseudoglioma syndrome"]	0	[]	3	["CTD (Bone fragility with contractures, arterial rupture, and deafness)","CTD (Larsen syndrome)","CTD (Osteoporosis-pseudoglioma syndrome)"]
XYLT1	3	["Bone fragility with contractures, arterial rupture, and deafness","Larsen syndrome","Osteoporosis-pseudoglioma syndrome"]	3	["Glycosaminoglycan biosynthesis - chondroitin sulfate \/ dermatan sulfate","Glycosaminoglycan biosynthesis - heparan sulfate \/ heparin","A tetrasaccharide linker sequence is required for GAG synthesis"]	3	["CTD (Bone fragility with contractures, arterial rupture, and deafness)","CTD (Larsen syndrome)","CTD (Osteoporosis-pseudoglioma syndrome)"]

Diseases Linked via Similar Genes

Congenital disorder of glycosylation Linked via 2 of 5 related genesB3GALT6, XYLT1 Pseudoxanthoma elasticum Linked via 2 of 5 related genesXYLT2, XYLT1 Neurodevelopmental disorder Linked via 1 of 5 related genesB3GAT3 Non-specific syndromic intellectual disability Linked via 1 of 5 related genesB3GAT3 Spondyloepimetaphyseal dysplasia Linked via 1 of 5 related genesB3GALT6

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Congenital disorder of glycosylation	2	["B3GALT6","XYLT1"]
Pseudoxanthoma elasticum	2	["XYLT2","XYLT1"]
Neurodevelopmental disorder	1	["B3GAT3"]
Non-specific syndromic intellectual disability	1	["B3GAT3"]
Spondyloepimetaphyseal dysplasia	1	["B3GALT6"]