B4GALT7 (beta-1,4-galactosyltransferase 7)

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

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

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)

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
  PF13733	Glyco_transf_7N	79 → 177	N-terminal region of glycosyl transferase group 7	Domain
  PF02709	Glyco_transf_7C	181 → 259	N-terminal domain of galactosyltransferase	Family

• 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:

Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate
Glycosaminoglycan biosynthesis - heparan sulfate / heparin
Metabolic pathways

Reactome:

A tetrasaccharide linker sequence is required for GAG synthesis
Defective B4GALT7 causes EDS, progeroid type

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Ehlers-Danlos syndrome progeroid type	Likely pathogenic; Pathogenic	rs121917817, rs121917818, rs28937869, rs375845310, rs187063864	RCV000005963 RCV000005964 RCV000005965 RCV000210975 RCV000239499
Ehlers-Danlos syndrome, spondylodysplastic type, 1	Pathogenic; Likely pathogenic	rs28937869, rs187063864	RCV002482832 RCV003137853
Larsen-like syndrome, B3GAT3 type	Pathogenic	rs28937869	RCV000258718
Lethal skeletal dysplasia	Pathogenic	rs28937869	RCV000779599
Spondylodysplastic Ehlers-Danlos syndrome	Likely pathogenic	rs121917817	RCV006268070

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
-	Uncertain significance; Likely benign; Benign	rs780427259, rs778409854, rs375801425, rs2127514559, rs2127513189, rs759226446, rs1429482924, rs2127513358, rs1309659292, rs1768121721, rs2127509643, rs773712777, rs370142626, rs1433445414, rs2127513256, rs2127514659, rs771458628, rs750028904, rs773263037, rs2127513246, rs2127511689, rs752722346, rs762698149, rs1768086053, rs775059052, rs772835831, rs753921062, rs757401980, rs374904923, rs200218920, rs367964168, rs746538176, rs1405020049, rs377379133, rs1259555733, rs2127514617, rs377212592, rs778740793, rs1023872849, rs1767927262, rs1448005107, rs560198890, rs376100460, rs775276570, rs1421610470, rs748595740, rs2127514102, rs757790046, rs202024448, rs2127514653, rs1767932065, rs375667092, rs780413704, rs746553066, rs750251768, rs767559423, rs755949684, rs1767919814, rs199973542, rs763776337, rs369075265, rs1025566307, rs2532536198, rs2532517390, rs747688432, rs2532542922, rs778346267, rs1478881105, rs532945440, rs777543102, rs1561812475, rs187063864, rs2532527444, rs2532535324, rs761147452, rs2532539965, rs1767918464, rs762551273, rs1297277047, rs2532542838, rs775361554, rs1359704427, rs1356105609, rs2532543352, rs2532534868, rs775381039, rs775207945, rs1554126437, rs184002621, rs2532539834, rs561872800, rs769074597, rs2532541590, rs772061724, rs886748984, rs115756833, rs151249724, rs1767923322, rs369871062, rs1767809097, rs1420175298, rs979389519, rs2532540866, rs773292907, rs2532525778, rs958449357, rs1460892986, rs2532543113, rs1768086565, rs2532526037, rs77537553, rs2532543492, rs761325379, rs773098634, rs2532525977, rs2532535745, rs757093697, rs758275982, rs780809034, rs1204837186, rs773857616, rs1767931352, rs1042913678, rs2532543500, rs1451130226, rs1561814408, rs758676806, rs926913315, rs1190089382, rs1468472910, rs1581996529, rs374198956, rs1180310359	RCV005057698 RCV005057789 RCV005057938 RCV005057897 RCV005095383 RCV005057855 RCV005057721 RCV005057899 RCV005057900 RCV005057862 RCV005057682 RCV005057691 RCV005095532 RCV005095433 RCV005057878 RCV005057727 RCV005095502 RCV005095503 RCV005095335 RCV005095334 RCV005095410 RCV005095527 RCV005057836 RCV005057968 RCV005057954 RCV005095605 RCV005095611 RCV005095617 RCV005095619 RCV005095593 RCV005095696 RCV005095630 RCV005058105 RCV005095615 RCV005095588 RCV005058143 RCV005058098 RCV005095636 RCV005058128 RCV005095689 RCV005095718 RCV005057950 RCV005058074 RCV005095657 RCV005058008 RCV005095722 RCV005095606 RCV005057970 RCV005095668 RCV005057963 RCV005058088 RCV005095674 RCV005057986 RCV005095732 RCV005058104 RCV005095607 RCV005095712 RCV005095594 RCV005095713 RCV005095662 RCV005098813 RCV005098881 RCV005098920 RCV005098899 RCV005098906 RCV005098914 RCV005099253 RCV005099255 RCV005058898 RCV005058905 RCV005058900 RCV005058924 RCV005058960 RCV005058987 RCV005058988 RCV005058990 RCV005098496 RCV005098508 RCV005059028 RCV005098547 RCV005098585 RCV005098584 RCV005098593 RCV005098607 RCV005098657 RCV005098658 RCV005098665 RCV005098677 RCV005098719 RCV005098742 RCV005098759 RCV005098743 RCV005098770 RCV005209120 RCV005208987 RCV005209013 RCV005209004 RCV005209019 RCV005209098 RCV005209020 RCV005209036 RCV005209058 RCV005209080 RCV005209078 RCV005209086 RCV005209111 RCV005209134 RCV005209142 RCV005209143 RCV005209133 RCV005209149 RCV005209173 RCV005209161 RCV005209151 RCV005209202 RCV005209273 RCV005209268 RCV005209284 RCV005209330 RCV005209380 RCV005209411 RCV005209436 RCV005209633 RCV005209444 RCV005209437 RCV005209461 RCV005209453 RCV005209459 RCV005209641 RCV005209466 RCV005209472 RCV005209482 RCV005209643 RCV005209648 RCV005209477 RCV005092402 RCV005092685 RCV005092744 RCV005092851
B4GALT7-related disorder	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs557374282, rs374994284, rs760654517, rs761984181, rs142476892, rs200124872, rs570926723	RCV003900812 RCV004757492 RCV003955434 RCV003893580 RCV003922680 RCV003932675 RCV003975357
Cervical cancer	Benign	rs112981306	RCV005918415
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs112981306	RCV005918421
Colorectal cancer	Benign; Likely benign	rs142951817	RCV005895714
Ehlers-Danlos syndrome	Conflicting classifications of pathogenicity; Uncertain significance; Benign	rs373068387, rs138496419, rs2127511511, rs751946151, rs767799114, rs765821414, rs1024596270, rs774970799, rs142476892, rs114036939, rs145082497, rs150487733, rs570926723	RCV002276731 RCV002276914 RCV002277896 RCV002277914 RCV002277917 RCV002277924 RCV002277930 RCV002277935 RCV002278651 RCV002279192 RCV002279248 RCV002279561 RCV002279559
Malignant tumor of esophagus	Benign; Likely benign	rs112981306, rs142951817	RCV005918413 RCV005895712
Nonpapillary renal cell carcinoma	Benign	rs112981306	RCV005918414
Ovarian cancer	Benign; Likely benign	rs112981306, rs142951817	RCV005918416 RCV005895713
Ovarian serous cystadenocarcinoma	Benign	rs112981306	RCV005918418
Sarcoma	Benign	rs112981306	RCV005918417
Thymoma	Benign; Likely benign	rs112981306, rs184002621	RCV005918419 RCV005931385
Thyroid cancer, nonmedullary, 1	Uncertain significance; Benign; Likely benign	rs774824237, rs142951817	RCV005924045 RCV005895716
Uterine carcinosarcoma	Benign; Likely benign	rs142951817	RCV005895715
Uterine corpus endometrial carcinoma	Likely benign; Benign	rs73337774, rs112981306	RCV005916323 RCV005918420

Associations from Text Mining
Disease Name	Relationship Type	References
Atlanto Axial Fusion	Associate	24668659
Carcinoma Hepatocellular	Associate	38025683
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	10473568
Developmental Disabilities	Associate	24668659
Ehlers Danlos Syndrome	Associate	10473568, 2106134, 24755949
Ehlers Danlos syndrome progeroid form	Associate	28882145, 30914273, 34193099
Ehlers Danlos syndrome type 3	Associate	28882145, 31614862
Glioblastoma	Associate	33553434
Growth Disorders	Associate	31614862
HEM dysplasia	Associate	31278392, 31614862
Hernia Inguinal	Associate	24668659
Immunologic Deficiency Syndromes	Inhibit	28882145
Joint Instability	Associate	31614862
Larsen Syndrome	Associate	24755949
Muscle Hypotonia	Associate	31614862
Myotonia with Skeletal Abnormalities and Mental Retardation	Associate	24755949
Pectus Carinatum	Associate	24668659
Progeroid syndrome neonatal	Associate	10473568, 24755949
Refractive Errors	Associate	24668659
Skin Abnormalities	Associate	24668659
Stomatognathic Diseases	Associate	24668659