B3GALT6 (beta-1,3-galactosyltransferase 6)

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

Gene

• Entrez ID: 126792
• Gene name: Beta-1,3-galactosyltransferase 6
• Gene symbol: B3GALT6
• Synonyms (NCBI Gene): ALGAZ, EDSP2, EDSSPD2, SEMDJL1, beta3GalT6
• Chromosome: 1
• Chromosome location: 1p36.33
• Summary: The enzyme encoded by this intronless gene is a beta-1,3-galactosyltransferase found in the medial Golgi apparatus, where it catalyzes the transfer of galactose from UDP-galactose to substrates containing a terminal beta-linked galactose moiety. The encod

miRNA Show/Hide all (107)

miRTarBase ID	miRNA	Experiments	Reference
MIRT813022	hsa-miR-1271	CLIP-seq
MIRT813023	hsa-miR-129-5p	CLIP-seq
MIRT813024	hsa-miR-1343	CLIP-seq
MIRT813025	hsa-miR-141	CLIP-seq
MIRT813026	hsa-miR-1539	CLIP-seq
MIRT813027	hsa-miR-15a	CLIP-seq
MIRT813028	hsa-miR-15b	CLIP-seq
MIRT813029	hsa-miR-16	CLIP-seq
MIRT813030	hsa-miR-182	CLIP-seq
MIRT813031	hsa-miR-190	CLIP-seq
MIRT813032	hsa-miR-190b	CLIP-seq
MIRT813033	hsa-miR-195	CLIP-seq
MIRT813034	hsa-miR-1976	CLIP-seq
MIRT813035	hsa-miR-200a	CLIP-seq
MIRT813036	hsa-miR-2355-3p	CLIP-seq
MIRT813037	hsa-miR-3065-3p	CLIP-seq
MIRT813038	hsa-miR-31	CLIP-seq
MIRT813039	hsa-miR-3193	CLIP-seq
MIRT813040	hsa-miR-3690	CLIP-seq
MIRT813041	hsa-miR-3929	CLIP-seq
MIRT813042	hsa-miR-424	CLIP-seq
MIRT813043	hsa-miR-4254	CLIP-seq
MIRT813044	hsa-miR-4255	CLIP-seq
MIRT813045	hsa-miR-4269	CLIP-seq
MIRT813046	hsa-miR-4273	CLIP-seq
MIRT813047	hsa-miR-4279	CLIP-seq
MIRT813048	hsa-miR-4297	CLIP-seq
MIRT813049	hsa-miR-4419b	CLIP-seq
MIRT813050	hsa-miR-4422	CLIP-seq
MIRT813051	hsa-miR-4424	CLIP-seq
MIRT813052	hsa-miR-4438	CLIP-seq
MIRT813053	hsa-miR-4478	CLIP-seq
MIRT813054	hsa-miR-4677-5p	CLIP-seq
MIRT813055	hsa-miR-4682	CLIP-seq
MIRT813056	hsa-miR-4762-3p	CLIP-seq
MIRT813057	hsa-miR-4766-5p	CLIP-seq
MIRT813058	hsa-miR-4781-5p	CLIP-seq
MIRT813059	hsa-miR-4786-5p	CLIP-seq
MIRT813060	hsa-miR-4790-5p	CLIP-seq
MIRT813061	hsa-miR-486-3p	CLIP-seq
MIRT813062	hsa-miR-490-3p	CLIP-seq
MIRT813063	hsa-miR-497	CLIP-seq
MIRT813064	hsa-miR-503	CLIP-seq
MIRT813065	hsa-miR-5095	CLIP-seq
MIRT813066	hsa-miR-513a-3p	CLIP-seq
MIRT813067	hsa-miR-561	CLIP-seq
MIRT813068	hsa-miR-563	CLIP-seq
MIRT813069	hsa-miR-579	CLIP-seq
MIRT813070	hsa-miR-587	CLIP-seq
MIRT813071	hsa-miR-602	CLIP-seq
MIRT813072	hsa-miR-676	CLIP-seq
MIRT813073	hsa-miR-769-5p	CLIP-seq
MIRT813074	hsa-miR-96	CLIP-seq
MIRT1940344	hsa-miR-1207-5p	CLIP-seq
MIRT1940345	hsa-miR-1228	CLIP-seq
MIRT1940346	hsa-miR-3189-5p	CLIP-seq
MIRT1940347	hsa-miR-342-3p	CLIP-seq
MIRT1940348	hsa-miR-361-3p	CLIP-seq
MIRT1940349	hsa-miR-3660	CLIP-seq
MIRT1940350	hsa-miR-4526	CLIP-seq
MIRT1940351	hsa-miR-4687-5p	CLIP-seq
MIRT1940352	hsa-miR-4726-3p	CLIP-seq
MIRT1940353	hsa-miR-4747-5p	CLIP-seq
MIRT1940354	hsa-miR-4763-3p	CLIP-seq
MIRT813061	hsa-miR-486-3p	CLIP-seq
MIRT1940355	hsa-miR-488	CLIP-seq
MIRT1940356	hsa-miR-508-5p	CLIP-seq
MIRT1940357	hsa-miR-671-5p	CLIP-seq
MIRT2179266	hsa-miR-1264	CLIP-seq
MIRT813024	hsa-miR-1343	CLIP-seq
MIRT813025	hsa-miR-141	CLIP-seq
MIRT2179267	hsa-miR-150	CLIP-seq
MIRT813026	hsa-miR-1539	CLIP-seq
MIRT2179268	hsa-miR-1915	CLIP-seq
MIRT813034	hsa-miR-1976	CLIP-seq
MIRT813035	hsa-miR-200a	CLIP-seq
MIRT2179269	hsa-miR-3124-3p	CLIP-seq
MIRT813039	hsa-miR-3193	CLIP-seq
MIRT2179270	hsa-miR-338-5p	CLIP-seq
MIRT2179271	hsa-miR-340	CLIP-seq
MIRT1940348	hsa-miR-361-3p	CLIP-seq
MIRT2179272	hsa-miR-3692	CLIP-seq
MIRT813047	hsa-miR-4279	CLIP-seq
MIRT813051	hsa-miR-4424	CLIP-seq
MIRT2179273	hsa-miR-4462	CLIP-seq
MIRT2179274	hsa-miR-4668-3p	CLIP-seq
MIRT813055	hsa-miR-4682	CLIP-seq
MIRT2179275	hsa-miR-4713-5p	CLIP-seq
MIRT813058	hsa-miR-4781-5p	CLIP-seq
MIRT813061	hsa-miR-486-3p	CLIP-seq
MIRT813064	hsa-miR-503	CLIP-seq
MIRT2179276	hsa-miR-532-3p	CLIP-seq
MIRT2179277	hsa-miR-548n	CLIP-seq
MIRT2179278	hsa-miR-548t	CLIP-seq
MIRT813067	hsa-miR-561	CLIP-seq
MIRT813068	hsa-miR-563	CLIP-seq
MIRT813071	hsa-miR-602	CLIP-seq
MIRT2179279	hsa-miR-605	CLIP-seq
MIRT2444550	hsa-miR-1236	CLIP-seq
MIRT2444551	hsa-miR-1275	CLIP-seq
MIRT2444552	hsa-miR-151-3p	CLIP-seq
MIRT2444553	hsa-miR-3147	CLIP-seq
MIRT2444554	hsa-miR-4425	CLIP-seq
MIRT2444555	hsa-miR-4665-5p	CLIP-seq
MIRT2464899	hsa-miR-4734	CLIP-seq
MIRT2464900	hsa-miR-604	CLIP-seq
MIRT2464901	hsa-miR-647	CLIP-seq

Gene ontology (GO) Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IBA
GO:0000139	Component	Golgi membrane	TAS
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	IMP	29443383
GO:0005797	Component	Golgi medial cisterna	IDA	11551958
GO:0005797	Component	Golgi medial cisterna	IEA
GO:0006024	Process	Glycosaminoglycan biosynthetic process	IBA
GO:0006024	Process	Glycosaminoglycan biosynthetic process	IEA
GO:0006024	Process	Glycosaminoglycan biosynthetic process	IEA
GO:0006024	Process	Glycosaminoglycan biosynthetic process	IMP	11551958
GO:0006486	Process	Protein glycosylation	IEA
GO:0006493	Process	Protein O-linked glycosylation	IBA
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	IEA
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	IMP	23664118
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0016758	Function	Hexosyltransferase activity	IEA
GO:0030166	Process	Proteoglycan biosynthetic process	IMP	29443383
GO:0030203	Process	Glycosaminoglycan metabolic process	TAS
GO:0032580	Component	Golgi cisterna membrane	IEA
GO:0035250	Function	UDP-galactosyltransferase activity	IDA	11551958
GO:0047220	Function	Galactosylxylosylprotein 3-beta-galactosyltransferase activity	IBA
GO:0047220	Function	Galactosylxylosylprotein 3-beta-galactosyltransferase activity	IEA
GO:0047220	Function	Galactosylxylosylprotein 3-beta-galactosyltransferase activity	IMP	29443383
GO:0047220	Function	Galactosylxylosylprotein 3-beta-galactosyltransferase activity	TAS
GO:0050650	Process	Chondroitin sulfate proteoglycan biosynthetic process	IMP	23664118
GO:0050651	Process	Dermatan sulfate proteoglycan biosynthetic process	IMP	23664118

Other IDs

• MIM: 615291
• HGNC: 17978
• e!Ensembl: ENSG00000176022

Protein

• UniProt ID: Q96L58
• Protein name: Beta-1,3-galactosyltransferase 6 (Beta-1,3-GalTase 6) (Beta3Gal-T6) (Beta3GalT6) (EC 2.4.1.134) (GAG GalTII) (Galactosyltransferase II) (Galactosylxylosylprotein 3-beta-galactosyltransferase) (UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6)
• Protein function: Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-linked galactose residue. Has a preference for galactose-beta-1,4-xylose that is found in the linker region of glycosaminoglycans, such
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01762	Galactosyl_T	71 → 260	Galactosyltransferase	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:11551958}.
• Sequence:

  MKLLRRAWRRRAALGLGTLALCGAALLYLARCAAEPGDPRAMSGRSPPPPAPARAAAFLA
  VLVASAPRAAERRSVIRSTWLARRGAPGDVWARFAVGTAGLGAEERRALEREQARHGDLL
  LLPALRDAYENLTAKVLAMLAWLDEHVAFEFVLKADDDSFARLDALLAELRAREPARRRR
  LYWGFFSGRGRVKPGGRWREAAWQLCDYYLPYALGGGYVLSADLVHYLRLSRDYLRAWHS
  EDVSLGAWLAPVDVQREHDPRFDTEYRSRGCSNQYLVTHKQSLEDMLEKHATLAREGRLC
  KREVQLRLSYVYDWSAPPSQCCQRREGIP

• Sequence length: 329

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 B3GALT6 causes EDSP2 and SEMDJL1
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 Show/Hide Causal Diseases (7)
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Al-Gazali syndrome	Pathogenic	rs786200938, rs1360531002, rs763080896	RCV004821343 RCV001089597 RCV001089599	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
B3GALT6-related disorder	Likely pathogenic; Pathogenic	rs778123798, rs786200938	RCV004754826 RCV003944971	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ehlers-Danlos syndrome, spondylodysplastic type, 2	Likely pathogenic; Pathogenic	rs778123798, rs969701761, rs2521960362, rs1638540007, rs786200938, rs1553151294, rs397514720, rs397514721, rs533071750, rs1638566519, rs1638539773	RCV002010337 RCV001378837 RCV002007594 RCV003074887 RCV003780941 RCV004821343 RCV001090033 RCV001853073 RCV001853074 RCV000054397 RCV000054398 RCV001290345 RCV001290346	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondyloepimetaphyseal dysplasia with joint laxity	Likely pathogenic; Pathogenic	rs778123798, rs969701761, rs2521960362, rs1638540007, rs786200938, rs397514720, rs397514721	RCV002010337 RCV001378837 RCV002007594 RCV003074887 RCV003780941 RCV001853073 RCV001853074 RCV003764726	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures	Pathogenic	rs1553151294, rs397514723, rs397514724, rs786200943	RCV001090032 RCV000054401 RCV000054402 RCV000054403	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	Pathogenic; Likely pathogenic	rs786200938, rs1553151294, rs397514718, rs786200939, rs397514719, rs397514720, rs397514723	RCV004821343 RCV000625553 RCV000054390 RCV000054392 RCV000054393 RCV000054394 RCV000054395 RCV003225928	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondyloepiphyseal dysplasia	Likely pathogenic	rs1239366051	RCV000825512	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (9)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
B3GALT6-congenital disorder of glycosylation	—	ClinGen	23664117, 23664118, 25149931, 28649518, 29230159, 29443383, 33363150, 34529350, ClinGen report	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS	—	CTD	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME	—	CTD	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME PROGEROID TYPE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME, PROGEROID FORM	—	CTD	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARSEN SYNDROME, DOMINANT TYPE	—	CTD	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME	—	CTD	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, BEIGHTON TYPE	—	Orphanet	36779427	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (55)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	Spondylodysplastic Ehlers-Danlos Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30168613	Associate	★☆☆☆☆ Found in Text Mining only
Compression of spinal cord	Spinal cord compression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital dislocation of radial head	Dislocated radial head	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

B4GALT7 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. B3GAT3 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. XYLT1 4 shared diseasesCongenital disorder of glycosylation, 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 3 shared evidence sourcesCTD (Bone fragility with contractures, arterial rupture, and deafness), CTD (Larsen syndrome), CTD (Osteoporosis-pseudoglioma syndrome) Related via 4 shared diseases including Congenital disorder of glycosylation, Bone fragility with contractures, arterial rupture, and deafness — evidence mostly CTD. KIF22 2 shared diseasesLarsen syndrome, Spondyloepimetaphyseal dysplasia 6 shared evidence sourcesCTD (Larsen syndrome), Orphanet (Spondyloepimetaphyseal dysplasia), Disgenet (Spondyloepimetaphyseal dysplasia), GWAS catalog (Spondyloepimetaphyseal dysplasia), ClinVar (Spondyloepimetaphyseal dysplasia), HPO (Spondyloepimetaphyseal dysplasia) Related via 2 shared diseases including Larsen syndrome, Spondyloepimetaphyseal dysplasia — evidence mostly CTD.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
B4GALT7	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)"]
B3GAT3	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)"]
XYLT1	4	["Congenital disorder of glycosylation","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)"]
KIF22	2	["Larsen syndrome","Spondyloepimetaphyseal dysplasia"]	0	[]	6	["CTD (Larsen syndrome)","Orphanet (Spondyloepimetaphyseal dysplasia)","Disgenet (Spondyloepimetaphyseal dysplasia)","GWAS catalog (Spondyloepimetaphyseal dysplasia)","ClinVar (Spondyloepimetaphyseal dysplasia)","HPO (Spondyloepimetaphyseal dysplasia)"]

Diseases Linked via Similar Genes

Craniofacial abnormalities Linked via 2 of 5 related genesB4GALT7, B3GAT3 Pseudoxanthoma elasticum Linked via 2 of 5 related genesXYLT2, XYLT1 Alzheimer disease Linked via 2 of 5 related genesXYLT1, KIF22 ehlers-danlos syndrome, spondylodysplastic type, 1 Linked via 1 of 5 related genesB4GALT7 Marshall syndrome Linked via 1 of 5 related genesXYLT2

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Craniofacial abnormalities	2	["B4GALT7","B3GAT3"]
Pseudoxanthoma elasticum	2	["XYLT2","XYLT1"]
Alzheimer disease	2	["XYLT1","KIF22"]
ehlers-danlos syndrome, spondylodysplastic type, 1	1	["B4GALT7"]
Marshall syndrome	1	["XYLT2"]