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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	11285
Gene name Gene Name - the full gene name approved by the HGNC.	Beta-1,4-galactosyltransferase 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	B4GALT7
Synonyms (NCBI Gene) Gene synonyms aliases	EDSP1, EDSSLA, EDSSPD1, XGALT1, XGPT, XGPT1
Disease Acronyms (UniProt) Disease acronyms from UniProt database	EDSSPD1
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5q35.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

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

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

Show/Hide all(25)

GO ID	Ontology	Definition	Evidence	Reference
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	21873635
GO:0005794	Component	Golgi apparatus	IDA	10506123
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006024	Process	Glycosaminoglycan biosynthetic process	IDA	10438455
GO:0006029	Process	Proteoglycan metabolic process	IMP	16583246
GO:0006464	Process	Cellular protein modification process	TAS	10473568
GO:0006487	Process	Protein N-linked glycosylation	IDA	24052259
GO:0008378	Function	Galactosyltransferase activity	IBA	21873635
GO:0008378	Function	Galactosyltransferase activity	IDA	10506123
GO:0008378	Function	Galactosyltransferase activity	IMP	16583246
GO:0016021	Component	Integral component of membrane	IDA	10438455
GO:0018215	Process	Protein phosphopantetheinylation	IEA
GO:0030145	Function	Manganese ion binding	IDA	24052259
GO:0030166	Process	Proteoglycan biosynthetic process	IBA	21873635
GO:0030203	Process	Glycosaminoglycan metabolic process	TAS
GO:0032580	Component	Golgi cisterna membrane	IEA
GO:0046525	Function	Xylosylprotein 4-beta-galactosyltransferase activity	IBA	21873635
GO:0046525	Function	Xylosylprotein 4-beta-galactosyltransferase activity	IDA	10438455
GO:0046525	Function	Xylosylprotein 4-beta-galactosyltransferase activity	TAS
GO:0048147	Process	Negative regulation of fibroblast proliferation	IMP	16583246
GO:0070085	Process	Glycosylation	IBA	21873635
GO:0097435	Process	Supramolecular fiber organization	IMP	16583246

MIM	HGNC	e!Ensembl
604327	930	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

Interactions

View interactions

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

Show/Hide Causal Diseases (10)

Disease term	Disease name	dbSNP ID	References
Causal
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Cutis laxa	Cutis Laxa	rs80356758, rs80356750, rs119489101, rs119489102, rs193302865, rs121918374, rs121918375, rs1598354372, rs1371235353, rs1598358449, rs121918376, rs121918377, rs121918378, rs137854453, rs1797225811 View all (31 more)
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Ehlers-danlos syndrome	EHLERS-DANLOS SYNDROME, PROGEROID FORM, EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1	rs121917817, rs121917818, rs28937869, rs764070148, rs144556766, rs121913550, rs121913552, rs80338764, rs121912933, rs786205103, rs786205104, rs121912930, rs397509369, rs113485686, rs121912914 View all (490 more)	15211654, 10506123, 27604308, 27827381, 24755949, 28306225, 3631078
Larsen syndrome	MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS	rs80356506, rs80356513, rs80356508, rs80356503, rs28933068, rs80356511, rs80356516, rs387906937, rs80356504, rs879255269, rs372487178, rs794727854, rs1553704446, rs377340567, rs868820857, rs1589510055 View all (1 more)
Lipodystrophy	Lipodystrophy	rs553668, rs766817317
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Osteochondrodysplasia	Osteochondrodysplasias	rs386833498, rs104893919, rs104893916, rs386833492, rs121908078, rs386833497, rs386833507, rs200963884, rs121908077, rs786204675, rs763198695, rs1554095433, rs766836061
Radioulnar synostosis	Radioulnar Synostosis	rs1595756416, rs1595756703, rs1231501584, rs1595756962, rs1595757203, rs1595763070, rs1595766210
Skeletal dysplasia	Skeletal dysplasia	rs121912632, rs121912633, rs121912634, rs121912636, rs121912637, rs267607147, rs387906324, rs267607150, rs397514473, rs398123438, rs515726153, rs515726154, rs515726162, rs515726163, rs515726172, rs757011098 View all (1 more)

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Ehlers-Danlos Syndrome	Ehlers-Danlos syndrome, spondylodysplastic type			GenCC

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text Mining
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

B4GALT7 (beta-1,4-galactosyltransferase 7)