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

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Ehlers-Danlos syndrome, musculocontractural type 2	Pathogenic	rs1554227382, rs398122361	RCV000515451 RCV000074436	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (15)

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.
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DSE-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar CTD, Disgenet CTD, Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ehlers-Danlos syndrome, musculocontractural type	Uncertain significance	ClinVar CTD	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (32)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arachnodactyly	Arachnodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	38421723	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29984655		★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	22350411	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	27351077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	11920522	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	38421723	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	27351077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	27351077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	BEFREE	23704329, 25703627, 31655143		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1	Musculocontractural Ehlers-Danlos Syndrome	ORPHANET_DG	23704329		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2	Musculocontractural Ehlers-Danlos Syndrome	UNIPROT_DG	23704329		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2	Musculocontractural Ehlers-Danlos Syndrome	GENOMICS_ENGLAND_DG	23704329, 25703627		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2	Musculocontractural Ehlers-Danlos Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2	Musculocontractural Ehlers-Danlos Syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Foramen Ovale, Patent	Patent foramen ovale	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	37239439	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30906633		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29984655		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30906633		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Musculocontractural Ehlers-Danlos syndrome	Musculocontractural Ehlers-Danlos Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	32047813	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30906633		★★★★★ ★☆☆☆☆ Found in Text Mining only

DSE (dermatan sulfate epimerase)