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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	29940
Gene name	Dermatan sulfate epimerase
Gene symbol	DSE
Synonyms (NCBI Gene)	DS-epi1DSEPDSEPIEDSMC2SART-2SART2
Chromosome	6
Chromosome location	6q22.1
Summary	The protein encoded by this gene is a tumor-rejection antigen. It is localized to the endoplasmic reticulum and functions to convert D-glucuronic acid to L-iduronic acid during the biosynthesis of dermatan sulfate. This antigen possesses tumor epitopes ca

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs398122361	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant, intron variant
rs550208733	G>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, 3 prime UTR variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1554227382	A>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant, intron variant

219

Show/Hide all (219)

miRTarBase ID	miRNA	Experiments	Reference
MIRT030964	hsa-miR-21-5p	Microarray	18591254
MIRT613149	hsa-miR-6776-3p	HITS-CLIP	23824327
MIRT668668	hsa-miR-1255b-2-3p	HITS-CLIP	23824327
MIRT613148	hsa-miR-4310	HITS-CLIP	23824327
MIRT613147	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT613145	hsa-miR-4291	HITS-CLIP	23824327
MIRT613144	hsa-miR-5096	HITS-CLIP	23824327
MIRT613143	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT613149	hsa-miR-6776-3p	HITS-CLIP	23824327
MIRT613148	hsa-miR-4310	HITS-CLIP	23824327
MIRT613147	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT613146	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT613145	hsa-miR-4291	HITS-CLIP	23824327
MIRT613144	hsa-miR-5096	HITS-CLIP	23824327
MIRT613143	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT613149	hsa-miR-6776-3p	HITS-CLIP	23824327
MIRT613148	hsa-miR-4310	HITS-CLIP	23824327
MIRT613147	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT613146	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT613145	hsa-miR-4291	HITS-CLIP	23824327
MIRT613144	hsa-miR-5096	HITS-CLIP	23824327
MIRT613143	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT613149	hsa-miR-6776-3p	HITS-CLIP	23824327
MIRT613148	hsa-miR-4310	HITS-CLIP	23824327
MIRT613147	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT613146	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT613145	hsa-miR-4291	HITS-CLIP	23824327
MIRT613144	hsa-miR-5096	HITS-CLIP	23824327
MIRT613143	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT613149	hsa-miR-6776-3p	HITS-CLIP	23824327
MIRT613148	hsa-miR-4310	HITS-CLIP	23824327
MIRT613147	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT613146	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT613145	hsa-miR-4291	HITS-CLIP	23824327
MIRT613144	hsa-miR-5096	HITS-CLIP	23824327
MIRT613143	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT613149	hsa-miR-6776-3p	HITS-CLIP	23824327
MIRT613148	hsa-miR-4310	HITS-CLIP	23824327
MIRT613147	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT613146	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT613145	hsa-miR-4291	HITS-CLIP	23824327
MIRT613144	hsa-miR-5096	HITS-CLIP	23824327
MIRT613143	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT613149	hsa-miR-6776-3p	HITS-CLIP	23824327
MIRT613148	hsa-miR-4310	HITS-CLIP	23824327
MIRT613147	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT613146	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT613145	hsa-miR-4291	HITS-CLIP	23824327
MIRT613144	hsa-miR-5096	HITS-CLIP	23824327
MIRT613143	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT613149	hsa-miR-6776-3p	HITS-CLIP	23824327
MIRT613148	hsa-miR-4310	HITS-CLIP	23824327
MIRT613147	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT613146	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT613145	hsa-miR-4291	HITS-CLIP	23824327
MIRT613144	hsa-miR-5096	HITS-CLIP	23824327
MIRT613143	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT613149	hsa-miR-6776-3p	HITS-CLIP	23824327
MIRT613148	hsa-miR-4310	HITS-CLIP	23824327
MIRT613147	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT613146	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT613145	hsa-miR-4291	HITS-CLIP	23824327
MIRT613144	hsa-miR-5096	HITS-CLIP	23824327
MIRT613143	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT613149	hsa-miR-6776-3p	HITS-CLIP	23824327
MIRT613148	hsa-miR-4310	HITS-CLIP	23824327
MIRT613147	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT613146	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT613145	hsa-miR-4291	HITS-CLIP	23824327
MIRT613144	hsa-miR-5096	HITS-CLIP	23824327
MIRT613143	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT503586	hsa-miR-370-3p	PAR-CLIP	22012620
MIRT503585	hsa-miR-6893-3p	PAR-CLIP	22012620
MIRT503584	hsa-miR-627-3p	PAR-CLIP	22012620
MIRT503583	hsa-miR-1251-3p	PAR-CLIP	22012620
MIRT503582	hsa-miR-3161	PAR-CLIP	22012620
MIRT503581	hsa-miR-3074-5p	PAR-CLIP	22012620
MIRT503580	hsa-miR-7152-5p	PAR-CLIP	22012620
MIRT537952	hsa-miR-629-3p	PAR-CLIP	22012620
MIRT503579	hsa-miR-599	PAR-CLIP	22012620
MIRT503586	hsa-miR-370-3p	PAR-CLIP	23446348
MIRT503585	hsa-miR-6893-3p	PAR-CLIP	23446348
MIRT503584	hsa-miR-627-3p	PAR-CLIP	23446348
MIRT503583	hsa-miR-1251-3p	PAR-CLIP	23446348
MIRT503582	hsa-miR-3161	PAR-CLIP	23446348
MIRT503581	hsa-miR-3074-5p	PAR-CLIP	23446348
MIRT503580	hsa-miR-7152-5p	PAR-CLIP	23446348
MIRT503579	hsa-miR-599	PAR-CLIP	23446348
MIRT503586	hsa-miR-370-3p	PAR-CLIP	23446348
MIRT503585	hsa-miR-6893-3p	PAR-CLIP	23446348
MIRT503584	hsa-miR-627-3p	PAR-CLIP	23446348
MIRT503583	hsa-miR-1251-3p	PAR-CLIP	23446348
MIRT503582	hsa-miR-3161	PAR-CLIP	23446348
MIRT503581	hsa-miR-3074-5p	PAR-CLIP	23446348
MIRT503580	hsa-miR-7152-5p	PAR-CLIP	23446348
MIRT503579	hsa-miR-599	PAR-CLIP	23446348
MIRT503583	hsa-miR-1251-3p	PAR-CLIP	27292025
MIRT503581	hsa-miR-3074-5p	PAR-CLIP	27292025
MIRT503582	hsa-miR-3161	PAR-CLIP	27292025
MIRT503586	hsa-miR-370-3p	PAR-CLIP	27292025
MIRT503579	hsa-miR-599	PAR-CLIP	27292025
MIRT503584	hsa-miR-627-3p	PAR-CLIP	27292025
MIRT503585	hsa-miR-6893-3p	PAR-CLIP	27292025
MIRT503580	hsa-miR-7152-5p	PAR-CLIP	27292025
MIRT613149	hsa-miR-6776-3p	HITS-CLIP	23824327
MIRT668668	hsa-miR-1255b-2-3p	HITS-CLIP	23824327
MIRT613148	hsa-miR-4310	HITS-CLIP	23824327
MIRT613147	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT613145	hsa-miR-4291	HITS-CLIP	23824327
MIRT613144	hsa-miR-5096	HITS-CLIP	23824327
MIRT613143	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT613149	hsa-miR-6776-3p	HITS-CLIP	23824327
MIRT613148	hsa-miR-4310	HITS-CLIP	23824327
MIRT613147	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT613146	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT613145	hsa-miR-4291	HITS-CLIP	23824327
MIRT613144	hsa-miR-5096	HITS-CLIP	23824327
MIRT613143	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT613149	hsa-miR-6776-3p	HITS-CLIP	23824327
MIRT613148	hsa-miR-4310	HITS-CLIP	23824327
MIRT613147	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT613146	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT613145	hsa-miR-4291	HITS-CLIP	23824327
MIRT613144	hsa-miR-5096	HITS-CLIP	23824327
MIRT613143	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT613149	hsa-miR-6776-3p	HITS-CLIP	23824327
MIRT613148	hsa-miR-4310	HITS-CLIP	23824327
MIRT613147	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT613146	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT613145	hsa-miR-4291	HITS-CLIP	23824327
MIRT613144	hsa-miR-5096	HITS-CLIP	23824327
MIRT613143	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT613149	hsa-miR-6776-3p	HITS-CLIP	23824327
MIRT613148	hsa-miR-4310	HITS-CLIP	23824327
MIRT613147	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT613146	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT613145	hsa-miR-4291	HITS-CLIP	23824327
MIRT613144	hsa-miR-5096	HITS-CLIP	23824327
MIRT613143	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT613149	hsa-miR-6776-3p	HITS-CLIP	23824327
MIRT613148	hsa-miR-4310	HITS-CLIP	23824327
MIRT613147	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT613146	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT613145	hsa-miR-4291	HITS-CLIP	23824327
MIRT613144	hsa-miR-5096	HITS-CLIP	23824327
MIRT613143	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT613149	hsa-miR-6776-3p	HITS-CLIP	23824327
MIRT613148	hsa-miR-4310	HITS-CLIP	23824327
MIRT613147	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT613146	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT613145	hsa-miR-4291	HITS-CLIP	23824327
MIRT613144	hsa-miR-5096	HITS-CLIP	23824327
MIRT613143	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT613149	hsa-miR-6776-3p	HITS-CLIP	23824327
MIRT613148	hsa-miR-4310	HITS-CLIP	23824327
MIRT613147	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT613146	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT613145	hsa-miR-4291	HITS-CLIP	23824327
MIRT613144	hsa-miR-5096	HITS-CLIP	23824327
MIRT613143	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT613149	hsa-miR-6776-3p	HITS-CLIP	23824327
MIRT613148	hsa-miR-4310	HITS-CLIP	23824327
MIRT613147	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT613146	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT613145	hsa-miR-4291	HITS-CLIP	23824327
MIRT613144	hsa-miR-5096	HITS-CLIP	23824327
MIRT613143	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT613149	hsa-miR-6776-3p	HITS-CLIP	23824327
MIRT613148	hsa-miR-4310	HITS-CLIP	23824327
MIRT613147	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT613146	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT613145	hsa-miR-4291	HITS-CLIP	23824327
MIRT613144	hsa-miR-5096	HITS-CLIP	23824327
MIRT613143	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT503586	hsa-miR-370-3p	PAR-CLIP	22012620
MIRT503585	hsa-miR-6893-3p	PAR-CLIP	22012620
MIRT503584	hsa-miR-627-3p	PAR-CLIP	22012620
MIRT503583	hsa-miR-1251-3p	PAR-CLIP	22012620
MIRT503582	hsa-miR-3161	PAR-CLIP	22012620
MIRT503581	hsa-miR-3074-5p	PAR-CLIP	22012620
MIRT503580	hsa-miR-7152-5p	PAR-CLIP	22012620
MIRT537952	hsa-miR-629-3p	PAR-CLIP	22012620
MIRT503579	hsa-miR-599	PAR-CLIP	22012620
MIRT503586	hsa-miR-370-3p	PAR-CLIP	23446348
MIRT503585	hsa-miR-6893-3p	PAR-CLIP	23446348
MIRT503584	hsa-miR-627-3p	PAR-CLIP	23446348
MIRT503583	hsa-miR-1251-3p	PAR-CLIP	23446348
MIRT503582	hsa-miR-3161	PAR-CLIP	23446348
MIRT503581	hsa-miR-3074-5p	PAR-CLIP	23446348
MIRT503580	hsa-miR-7152-5p	PAR-CLIP	23446348
MIRT503579	hsa-miR-599	PAR-CLIP	23446348
MIRT503586	hsa-miR-370-3p	PAR-CLIP	23446348
MIRT503585	hsa-miR-6893-3p	PAR-CLIP	23446348
MIRT503584	hsa-miR-627-3p	PAR-CLIP	23446348
MIRT503583	hsa-miR-1251-3p	PAR-CLIP	23446348
MIRT503582	hsa-miR-3161	PAR-CLIP	23446348
MIRT503581	hsa-miR-3074-5p	PAR-CLIP	23446348
MIRT503580	hsa-miR-7152-5p	PAR-CLIP	23446348
MIRT503579	hsa-miR-599	PAR-CLIP	23446348
MIRT945899	hsa-miR-370	CLIP-seq
MIRT945900	hsa-miR-4659a-3p	CLIP-seq
MIRT945901	hsa-miR-4659b-3p	CLIP-seq
MIRT945902	hsa-miR-4799-5p	CLIP-seq
MIRT945903	hsa-miR-548n	CLIP-seq
MIRT945904	hsa-miR-548t	CLIP-seq
MIRT2519661	hsa-miR-1228	CLIP-seq
MIRT2519662	hsa-miR-1305	CLIP-seq
MIRT2519663	hsa-miR-421	CLIP-seq
MIRT2519664	hsa-miR-4729	CLIP-seq
MIRT2519665	hsa-miR-4766-3p	CLIP-seq
MIRT2519666	hsa-miR-487a	CLIP-seq
MIRT2519667	hsa-miR-496	CLIP-seq
MIRT2519661	hsa-miR-1228	CLIP-seq
MIRT2519662	hsa-miR-1305	CLIP-seq
MIRT2519663	hsa-miR-421	CLIP-seq
MIRT2519664	hsa-miR-4729	CLIP-seq
MIRT2519665	hsa-miR-4766-3p	CLIP-seq
MIRT2519666	hsa-miR-487a	CLIP-seq
MIRT2519667	hsa-miR-496	CLIP-seq

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0005783	Component	Endoplasmic reticulum	IDA	10679095
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IDA	10679095
GO:0005794	Component	Golgi apparatus	IEA
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0047757	Function	Chondroitin-glucuronate 5-epimerase activity	IBA
GO:0047757	Function	Chondroitin-glucuronate 5-epimerase activity	IDA	16505484
GO:0047757	Function	Chondroitin-glucuronate 5-epimerase activity	IEA
GO:0047757	Function	Chondroitin-glucuronate 5-epimerase activity	TAS
GO:0050651	Process	Dermatan sulfate proteoglycan biosynthetic process	IDA	16505484
GO:0050651	Process	Dermatan sulfate proteoglycan biosynthetic process	TAS
GO:0050654	Process	Chondroitin sulfate proteoglycan metabolic process	IBA
GO:0050655	Process	Dermatan sulfate proteoglycan metabolic process	IBA

MIM	HGNC	e!Ensembl
605942	21144	ENSG00000111817

Q9UL01

Protein name

Dermatan-sulfate epimerase (DS epimerase) (EC 5.1.3.19) (Chondroitin-glucuronate 5-epimerase) (Squamous cell carcinoma antigen recognized by T-cells 2) (SART-2)

Protein function

Converts D-glucuronic acid to L-iduronic acid (IdoUA) residues. Plays an important role in the biosynthesis of the glycosaminoglycan/mucopolysaccharide dermatan sulfate. {ECO:0000269|PubMed:16505484, ECO:0000269|PubMed:19004833, ECO:0000269|PubM

PDB

6HZN

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16332	DUF4962	120 → 355	Domain of unknown function (DUF4962)	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed with higher expression in kidney and ovary and lower expression in brain, colon and thymus. Also expressed in renal cell carcinomas, brain tumors, and in a part of melanomas and adenocarcinomas from organs other

Sequence

MRTHTRGAPSVFFIYLLCFVSAYITDENPEVMIPFTNANYDSHPMLYFSRAEVAELQLRA
ASSHEHIAARLTEAVHTMLSSPLEYLPPWDPKDYSARWNEIFGNNLGALAMFCVLYPENI
EARDMAKDYMERMAAQPSWLVKDAPWDEVPLAHSLVGFATAYDFLYNYLSKTQQEKFLEV
IANASGYMYETSYRRGWGFQYLHNHQPTNCMALLTGSLVLMNQGYLQEAYLWTKQVLTIM
EKSLVLLREVTDGSLYEGVAYGSYTTRSLFQYMFLVQRHFNINHFGHPWLKQHFAFMYRT
ILPGFQRTVAIADSNYNWFYGPESQLVFLDKFVMRNGSGNWLADQIRRNRVVEGPGTPSK
GQRWCTLHTEFLWYDGSLKSVPPPDFGTPTLHYFEDWGVVTYGSALPAEINRSFLSFKSG
KLGGRAIYDIVHRNKYKDWIKGWRNFNAGHEHPDQNSFTFAPNGVPFITEALYGPKYTFF
NNVLMFSPAVSKSCFSPWVGQVTEDCSSKWSKYKHDLAASCQGRVVAAEEKNGVVFIRGE
GVGAYNPQLNLKNVQRNLILLHPQLLLLVDQIHLGEESPLETAASFFHNVDVPFEETVVD
GVHGAFIRQRDGLYKMYWMDDTGYSEKATFASVTYPRGYPYNGTNYVNVTMHLRSPITRA
AYLFIGPSIDVQSFTVHGDSQQLDVFIATSKHAYATYLWTGEATGQSAFAQVIADRHKIL
FDRNSAIKSSIVPEVKDYAAIVEQNLQHFKPVFQLLEKQILSRVRNTASFRKTAERLLRF
SDKRQTEEAIDRIFAISQQQQQQSKSKKNRRAGKRYKFVDAVPDIFAQIEVNEKKIRQKA
QILAQKELPIDEDEEMKDLLDFADVTYEKHKNGGLIKGRFGQARMVTTTHSRAPSLSASY
TRLFLILNIAIFFVMLAMQLTYFQRAQSLHGQRCLYAVLLIDSCILLWLYSSCSQSQC

Sequence length

958

Interactions

View interactions

	KEGG		Reactome
	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate Metabolic pathways		Dermatan sulfate biosynthesis

284

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Ehlers-Danlos syndrome, musculocontractural type 2	Pathogenic	rs1554227382, rs398122361	RCV000515451 RCV000074436
See cases	Likely pathogenic	rs1784207138	RCV002252858

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs76186865	RCV005898040
Colon adenocarcinoma	Benign	rs76186865	RCV005898037
DSE-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	rs200485959, rs768130032, rs139270200, rs577834283, rs1476434303, rs1784159163, rs181790874, rs9400910, rs111252008, rs535021192, rs199742443, rs61747210, rs776273558, rs140975523, rs61741781, rs747871581 View all (1 more)	RCV003931225 RCV003941273 RCV003961076 RCV003901157 RCV003956446 RCV003981455 RCV003922203 RCV003968911 RCV003980017 RCV003945480 RCV003965295 RCV003955540 RCV004757290 RCV003960672 RCV003923214 RCV003933211
Ehlers-Danlos syndrome	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs113277624, rs1213902929, rs150311697, rs953029145, rs150939596, rs776761775, rs76186865, rs140034597, rs34994230, rs749683894, rs111252008, rs147683614, rs773416085, rs535021192, rs199731077, rs61741781 View all (1 more)	RCV002276795 RCV002276976 RCV002278020 RCV002278022 RCV002278023 RCV002278024 RCV002279197 RCV002279188 RCV002279186 RCV002279300 RCV002279359 RCV002279441 RCV002279414 RCV002279400 RCV002279426 RCV002279634
Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance	rs146336077	RCV005863185
Hepatocellular carcinoma	Likely benign; Benign	rs777950323, rs76186865	RCV005931483 RCV005898038
Malignant tumor of esophagus	Likely benign; Benign	rs9942469, rs76186865	RCV005917693 RCV005898039
Ovarian serous cystadenocarcinoma	Likely benign; Benign	rs9942469, rs76186865	RCV005917694 RCV005898041
Uterine corpus endometrial carcinoma	Likely benign; Benign	rs9942469, rs76186865	RCV005917695 RCV005898042

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Autism Spectrum Disorder	Associate	38421723
Carcinoma Non Small Cell Lung	Associate	33934493
Carcinoma Squamous Cell	Associate	22350411
Colorectal Neoplasms	Associate	11920522
Developmental Disabilities	Associate	38421723
Ehlers Danlos Syndrome musculocontractural type 1	Associate	26373698, 32130795, 34815299
Gastrointestinal Diseases	Associate	37239439
Nasal Polyps	Associate	32047813
Neoplasms	Associate	11092984, 11920522, 20929582

DSE (dermatan sulfate epimerase)