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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	26229
Gene name	Beta-1,3-glucuronyltransferase 3
Gene symbol	B3GAT3
Synonyms (NCBI Gene)	GLCATIJDSCDglcUAT-I
Chromosome	11
Chromosome location	11q12.3
Summary	The protein encoded by this gene is a member of the glucuronyltransferase gene family, enzymes that exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product catalyzes the formation of the

Show/Hide all (7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs372487178	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs377340567	G>A	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs387906937	C>G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs535206047	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs753781915	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs879255269	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1085307917	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant

119

Show/Hide all (119)

miRTarBase ID	miRNA	Experiments
MIRT813146	hsa-let-7a	CLIP-seq
MIRT813147	hsa-let-7b	CLIP-seq
MIRT813148	hsa-let-7c	CLIP-seq
MIRT813149	hsa-let-7d	CLIP-seq
MIRT813150	hsa-let-7e	CLIP-seq
MIRT813151	hsa-let-7f	CLIP-seq
MIRT813152	hsa-let-7g	CLIP-seq
MIRT813153	hsa-let-7i	CLIP-seq
MIRT813154	hsa-miR-1299	CLIP-seq
MIRT813155	hsa-miR-3179	CLIP-seq
MIRT813156	hsa-miR-3202	CLIP-seq
MIRT813157	hsa-miR-3689d	CLIP-seq
MIRT813158	hsa-miR-4458	CLIP-seq
MIRT813159	hsa-miR-4476	CLIP-seq
MIRT813160	hsa-miR-4500	CLIP-seq
MIRT813161	hsa-miR-4778-5p	CLIP-seq
MIRT813162	hsa-miR-4782-5p	CLIP-seq
MIRT813163	hsa-miR-516b	CLIP-seq
MIRT813164	hsa-miR-98	CLIP-seq
MIRT1940379	hsa-miR-2355-5p	CLIP-seq
MIRT1940380	hsa-miR-4446-3p	CLIP-seq
MIRT1940381	hsa-miR-4457	CLIP-seq
MIRT1940382	hsa-miR-4646-3p	CLIP-seq
MIRT1940383	hsa-miR-4731-3p	CLIP-seq
MIRT1940384	hsa-miR-4801	CLIP-seq
MIRT2179294	hsa-miR-149	CLIP-seq
MIRT2179295	hsa-miR-3064-5p	CLIP-seq
MIRT2179296	hsa-miR-4794	CLIP-seq
MIRT2482865	hsa-miR-1227	CLIP-seq
MIRT2482866	hsa-miR-1254	CLIP-seq
MIRT2482867	hsa-miR-1286	CLIP-seq
MIRT2482868	hsa-miR-146b-3p	CLIP-seq
MIRT2179294	hsa-miR-149	CLIP-seq
MIRT2482869	hsa-miR-15a	CLIP-seq
MIRT2482870	hsa-miR-15b	CLIP-seq
MIRT2482871	hsa-miR-16	CLIP-seq
MIRT2482872	hsa-miR-195	CLIP-seq
MIRT2482873	hsa-miR-214	CLIP-seq
MIRT1940379	hsa-miR-2355-5p	CLIP-seq
MIRT2482874	hsa-miR-2467-3p	CLIP-seq
MIRT2482875	hsa-miR-2861	CLIP-seq
MIRT2482876	hsa-miR-3064-3p	CLIP-seq
MIRT2179295	hsa-miR-3064-5p	CLIP-seq
MIRT2482877	hsa-miR-3116	CLIP-seq
MIRT2482878	hsa-miR-3173-5p	CLIP-seq
MIRT2482879	hsa-miR-3184	CLIP-seq
MIRT2482880	hsa-miR-34a	CLIP-seq
MIRT2482881	hsa-miR-34c-5p	CLIP-seq
MIRT2482882	hsa-miR-3619-3p	CLIP-seq
MIRT2482883	hsa-miR-3619-5p	CLIP-seq
MIRT2482884	hsa-miR-423-5p	CLIP-seq
MIRT2482885	hsa-miR-424	CLIP-seq
MIRT2482886	hsa-miR-4254	CLIP-seq
MIRT2482887	hsa-miR-4265	CLIP-seq
MIRT2482888	hsa-miR-4292	CLIP-seq
MIRT2482889	hsa-miR-4296	CLIP-seq
MIRT2482890	hsa-miR-4322	CLIP-seq
MIRT2482891	hsa-miR-4417	CLIP-seq
MIRT2482892	hsa-miR-4436a	CLIP-seq
MIRT1940380	hsa-miR-4446-3p	CLIP-seq
MIRT1940381	hsa-miR-4457	CLIP-seq
MIRT2482893	hsa-miR-449a	CLIP-seq
MIRT2482894	hsa-miR-449b	CLIP-seq
MIRT1940382	hsa-miR-4646-3p	CLIP-seq
MIRT2482895	hsa-miR-4688	CLIP-seq
MIRT2482896	hsa-miR-4728-5p	CLIP-seq
MIRT1940383	hsa-miR-4731-3p	CLIP-seq
MIRT2179296	hsa-miR-4794	CLIP-seq
MIRT1940384	hsa-miR-4801	CLIP-seq
MIRT2482897	hsa-miR-486-3p	CLIP-seq
MIRT2482898	hsa-miR-497	CLIP-seq
MIRT2482899	hsa-miR-591	CLIP-seq
MIRT2482900	hsa-miR-761	CLIP-seq
MIRT2482901	hsa-miR-874	CLIP-seq
MIRT2482865	hsa-miR-1227	CLIP-seq
MIRT2482866	hsa-miR-1254	CLIP-seq
MIRT2482867	hsa-miR-1286	CLIP-seq
MIRT2482868	hsa-miR-146b-3p	CLIP-seq
MIRT2179294	hsa-miR-149	CLIP-seq
MIRT2482869	hsa-miR-15a	CLIP-seq
MIRT2482870	hsa-miR-15b	CLIP-seq
MIRT2482871	hsa-miR-16	CLIP-seq
MIRT2482872	hsa-miR-195	CLIP-seq
MIRT2482873	hsa-miR-214	CLIP-seq
MIRT1940379	hsa-miR-2355-5p	CLIP-seq
MIRT2482874	hsa-miR-2467-3p	CLIP-seq
MIRT2482875	hsa-miR-2861	CLIP-seq
MIRT2482876	hsa-miR-3064-3p	CLIP-seq
MIRT2179295	hsa-miR-3064-5p	CLIP-seq
MIRT2482877	hsa-miR-3116	CLIP-seq
MIRT2482878	hsa-miR-3173-5p	CLIP-seq
MIRT2482879	hsa-miR-3184	CLIP-seq
MIRT2482880	hsa-miR-34a	CLIP-seq
MIRT2482881	hsa-miR-34c-5p	CLIP-seq
MIRT2482882	hsa-miR-3619-3p	CLIP-seq
MIRT2482883	hsa-miR-3619-5p	CLIP-seq
MIRT2482884	hsa-miR-423-5p	CLIP-seq
MIRT2482885	hsa-miR-424	CLIP-seq
MIRT2482886	hsa-miR-4254	CLIP-seq
MIRT2482887	hsa-miR-4265	CLIP-seq
MIRT2482888	hsa-miR-4292	CLIP-seq
MIRT2482889	hsa-miR-4296	CLIP-seq
MIRT2482890	hsa-miR-4322	CLIP-seq
MIRT2482891	hsa-miR-4417	CLIP-seq
MIRT1940380	hsa-miR-4446-3p	CLIP-seq
MIRT1940381	hsa-miR-4457	CLIP-seq
MIRT2482893	hsa-miR-449a	CLIP-seq
MIRT2482894	hsa-miR-449b	CLIP-seq
MIRT1940382	hsa-miR-4646-3p	CLIP-seq
MIRT2482895	hsa-miR-4688	CLIP-seq
MIRT2482896	hsa-miR-4728-5p	CLIP-seq
MIRT1940383	hsa-miR-4731-3p	CLIP-seq
MIRT2179296	hsa-miR-4794	CLIP-seq
MIRT1940384	hsa-miR-4801	CLIP-seq
MIRT2482897	hsa-miR-486-3p	CLIP-seq
MIRT2482898	hsa-miR-497	CLIP-seq
MIRT2482899	hsa-miR-591	CLIP-seq
MIRT2482900	hsa-miR-761	CLIP-seq
MIRT2482901	hsa-miR-874	CLIP-seq

Show/Hide all (34)

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:0005515	Function	Protein binding	IPI	24425863, 32707033
GO:0005794	Component	Golgi apparatus	IDA	21763480
GO:0005794	Component	Golgi apparatus	IEA
GO:0005801	Component	Cis-Golgi network	IDA	21763480, 25893793
GO:0005975	Process	Carbohydrate metabolic process	IBA
GO:0006024	Process	Glycosaminoglycan biosynthetic process	IDA	24425863
GO:0006024	Process	Glycosaminoglycan biosynthetic process	IEA
GO:0006024	Process	Glycosaminoglycan biosynthetic process	IMP	25893793
GO:0006024	Process	Glycosaminoglycan biosynthetic process	NAS	10842173
GO:0006486	Process	Protein glycosylation	IEA
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	IDA	21763480
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	IMP	25893793
GO:0015018	Function	Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity	IBA
GO:0015018	Function	Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity	IEA
GO:0015018	Function	Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity	NAS	10842173
GO:0015020	Function	Glucuronosyltransferase activity	IDA	25893793
GO:0015020	Function	Glucuronosyltransferase activity	IMP	21763480
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	10842173
GO:0016740	Function	Transferase activity	IEA
GO:0043085	Process	Positive regulation of catalytic activity	IDA	24425863
GO:0046872	Function	Metal ion binding	IEA
GO:0050650	Process	Chondroitin sulfate proteoglycan biosynthetic process	IBA
GO:0050650	Process	Chondroitin sulfate proteoglycan biosynthetic process	IDA	21763480
GO:0050650	Process	Chondroitin sulfate proteoglycan biosynthetic process	IMP	25893793
GO:0050651	Process	Dermatan sulfate proteoglycan biosynthetic process	IDA	21763480
GO:0050651	Process	Dermatan sulfate proteoglycan biosynthetic process	IMP	25893793
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:0072542	Function	Protein phosphatase activator activity	IDA	24425863
GO:0090316	Process	Positive regulation of intracellular protein transport	IMP	24425863

MIM	HGNC	e!Ensembl
606374	923	ENSG00000149541

O94766

Protein name

Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 (EC 2.4.1.135) (Beta-1,3-glucuronyltransferase 3) (Glucuronosyltransferase I) (GlcAT-I) (UDP-GlcUA:Gal beta-1,3-Gal-R glucuronyltransferase) (GlcUAT-I)

Protein function

Glycosaminoglycans biosynthesis (PubMed:25893793). Involved in forming the linkage tetrasaccharide present in heparan sulfate and chondroitin sulfate. Transfers a glucuronic acid moiety from the uridine diphosphate-glucuronic acid (UDP-GlcUA) to

PDB

1FGG , 1KWS , 3CU0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03360	Glyco_transf_43	96 → 312	Glycosyltransferase family 43	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous (but weakly expressed in all tissues examined).

Sequence

MKLKLKNVFLAYFLVSIAGLLYALVQLGQPCDCLPPLRAAAEQLRQKDLRISQLQAELRR
PPPAPAQPPEPEALPTIYVVTPTYARLVQKAELVRLSQTLSLVPRLHWLLVEDAEGPTPL
VSGLLAASGLLFTHLVVLTPKAQRLREGEPGWVHPRGVEQRNKALDWLRGRGGAVGGEKD
PPPPGTQGVVYFADDDNTYSRELFEEMRWTRGVSVWPVGLVGGLRFEGPQVQDGRVVGFH
TAWEPSRPFPVDMAGFAVALPLLLDKPNAQFDSTAPRGHLESSLLSHLVDPKDLEPRAAN
CTRVLVWHTRTEKPKMKQEEQLQRQGRGSDPAIEV

Sequence length

335

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Larsen-like syndrome, B3GAT3 type	Likely pathogenic; Pathogenic	rs1554968726, rs139759238, rs755601885, rs750685646, rs895774521, rs1943043756, rs2496251561, rs1943126956, rs2134426262, rs754512227, rs2496258057, rs2496251511, rs1943052192, rs1046674759, rs1447702013 View all (5 more)	RCV001390252 RCV002568864 RCV001844323 RCV001946744 RCV002022647 View all (16 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH CONGENITAL HEART DEFECTS	Pathogenic; Likely pathogenic	rs372487178, rs387906937	RCV000211124 RCV000211049	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS	Pathogenic; Likely pathogenic	rs879255269, rs377340567, rs766019547	RCV000211050 RCV001260983 RCV001260982	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (12)

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.
B3GAT3-related disorder	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARSEN SYNDROME, DOMINANT TYPE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARSEN-LIKE SYNDROME B3GAT3 TYPE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (70)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Aortic Valve Stenosis	Aortic valve stenosis	Pubtator	27871226	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	Pubtator	26086840	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	BEFREE	21763480		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	26086840, 27871226	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35123420	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37908350	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	28771243	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	26086840	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	24668659	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	21763480		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital malformation syndrome	Congenital Malformation Syndrome	BEFREE	24668659		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	28771243	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	28771243		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis Laxa	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Desbuquois syndrome	Desbuquois syndrome	Pubtator	31988067	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	24668659	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic foot	Pubtator	26086840	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	24668659	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Foramen Ovale, Patent	Patent foramen ovale	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Geroderma osteodysplastica	Geroderma Osteodysplastica	BEFREE	31438591		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	26086840		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	26086840	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma of childhood	Glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	34222480	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	24668659, 31988067	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	26086840	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	36205932	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	24668659	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Ventricular	Congenital heart septal defect	Pubtator	26086840	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematoma Subdural	Hematoma	Pubtator	26086840	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrophthalmos	Glaucoma, congenital	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	21056957		★★★★★ ★☆☆☆☆ Found in Text Mining only
Larsen-like syndrome, B3GAT3 type	Larsen-Like Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	26086840	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	30847403		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	11535117	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microdontia (disorder)	Microdontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	BEFREE	21763480		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS	LARSEN SYNDROME	ORPHANET_DG	21763480		★★★★★ ★☆☆☆☆ Found in Text Mining only
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS	LARSEN SYNDROME	CLINVAR_DG	21763480		★★★★★ ★☆☆☆☆ Found in Text Mining only
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS	LARSEN SYNDROME	UNIPROT_DG	21763480, 24668659, 25893793, 26086840		★★★★★ ★☆☆☆☆ Found in Text Mining only
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS	LARSEN SYNDROME	GENOMICS_ENGLAND_DG	26086840, 27604308, 31438591		★★★★★ ★☆☆☆☆ Found in Text Mining only
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS	LARSEN SYNDROME	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	27871226	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30847403		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	25893793		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	27871226		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	27871226	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	21056957		★★★★★ ★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis	Radioulnar Synostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	25893793		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Abnormalities	Skin abnormalities	Pubtator	24668659	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Talipes Equinovalgus	Talipes Equinovalgus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

B3GAT3 (beta-1,3-glucuronyltransferase 3)