Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	126792
Gene name	Beta-1,3-galactosyltransferase 6
Gene symbol	B3GALT6
Synonyms (NCBI Gene)	ALGAZEDSP2EDSSPD2SEMDJL1beta3GalT6
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

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miRTarBase ID	miRNA	Experiments
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

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

MIM	HGNC	e!Ensembl
615291	17978	ENSG00000176022

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

Interactions

View interactions

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)

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
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 View all (8 more)	★★★★★ ★★★★★ 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 View all (3 more)	★★★★★ ★★★★★ 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 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondyloepiphyseal dysplasia	Likely pathogenic	rs1239366051	RCV000825512	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
B3GALT6-CONGENITAL DISORDER OF GLYCOSYLATION	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ 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	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (55)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
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
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	23664117, 23664118, 24766538		★★★★★ ★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective tissue disease	Pubtator	23664117, 23664118	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	23664118	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28231735		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis Laxa	BEFREE	23664117		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis Laxa	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectopia Lentis	Ectopia Lentis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	BEFREE	23664118, 24766538, 25331875, 29443383, 29931299		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1	Ehlers-Danlos Syndrome	GENOMICS_ENGLAND_DG	23664117		★★★★★ ★☆☆☆☆ Found in Text Mining only
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1	Ehlers-Danlos Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2	Ehlers-Danlos Syndrome	ORPHANET_DG	23664117		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2	Ehlers-Danlos Syndrome	UNIPROT_DG	23664117		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2	Ehlers-Danlos Syndrome	GENOMICS_ENGLAND_DG	23664118, 28306225		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2	Ehlers-Danlos Syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epiphyseal dysplasia	Epiphyseal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	26086840	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	31614862	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Heart Septal Defects	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	23664118	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	24766538		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30168613		★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	32517548	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	23664117	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal disorder	Spondyloepimetaphyseal dysplasia	BEFREE	29931299		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal disorder	Spondyloepimetaphyseal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal Dysplasia With Joint Laxity	Spondyloepimetaphyseal Dysplasia With Joint Laxity	GENOMICS_ENGLAND_DG	23664117, 23664118		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondyloepimetaphyseal Dysplasia With Joint Laxity	Spondyloepimetaphyseal Dysplasia With Joint Laxity	UNIPROT_DG	23664117, 23664118		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondyloepimetaphyseal Dysplasia With Joint Laxity	Spondyloepimetaphyseal Dysplasia With Joint Laxity	ORPHANET_DG	23664117		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondyloepimetaphyseal Dysplasia With Joint Laxity	Spondyloepimetaphyseal dysplasia	Pubtator	23664117	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondyloepimetaphyseal dysplasia with joint laxity	Spondyloepimetaphyseal Dysplasia With Joint Laxity	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondyloepimetaphyseal Dysplasia With Joint Laxity	Spondyloepimetaphyseal Dysplasia With Joint Laxity	BEFREE	24766538, 29443383		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondyloepimetaphyseal Dysplasia With Joint Laxity	Spondyloepimetaphyseal Dysplasia With Joint Laxity	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

B3GALT6 (beta-1,3-galactosyltransferase 6)