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	2588
Gene name	Galactosamine (N-acetyl)-6-sulfatase
Gene symbol	GALNS
Synonyms (NCBI Gene)	GALNAC6SGASGalN6SMPS4A
Chromosome	16
Chromosome location	16q24.3
Summary	This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations

Show/Hide all (52)

SNP ID	Visualize variation	Clinical significance	Consequence
rs118204435	G>C	Pathogenic	Coding sequence variant, missense variant
rs118204436	A>G	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs118204438	T>A	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs118204439	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs118204440	T>C	Pathogenic	Coding sequence variant, missense variant
rs118204441	G>A,C	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs118204442	C>T	Pathogenic	Coding sequence variant, missense variant
rs118204443	C>A	Pathogenic	Coding sequence variant, missense variant
rs118204444	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs118204445	A>C	Pathogenic	Intron variant, coding sequence variant, missense variant
rs118204446	G>C	Pathogenic	Coding sequence variant, missense variant
rs118204447	C>T	Pathogenic	Intron variant, coding sequence variant, missense variant
rs118204448	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs118204449	C>T	Pathogenic	Coding sequence variant, stop gained
rs144067930	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs145798311	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs146093755	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs149239881	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs199638097	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, intron variant
rs200374326	G>A	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs267606838	C>T	Pathogenic	Missense variant, coding sequence variant
rs372893383	C>T	Pathogenic	Genic downstream transcript variant, 3 prime UTR variant, coding sequence variant, stop gained
rs398123437	CACTTGCCGACAATCTTGC>-	Pathogenic	Splice donor variant, 5 prime UTR variant, coding sequence variant
rs398123438	C>T	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs398123439	C>T	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs398123440	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs537013895	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs569725936	T>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs746756997	A>C,G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs760300454	C>T	Pathogenic	Missense variant, coding sequence variant
rs761385192	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs761725425	T>C,G	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs761850746	C>G,T	Pathogenic	Splice donor variant
rs770053354	G>A	Pathogenic	Coding sequence variant, missense variant
rs772656696	G>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs781439830	G>T	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs786205899	T>C	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs794727625	A>T	Pathogenic, likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs886039376	A>G	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs886039377	G>C	Pathogenic	Missense variant, genic downstream transcript variant, 3 prime UTR variant, coding sequence variant
rs948490589	C>T	Pathogenic	3 prime UTR variant, genic downstream transcript variant, coding sequence variant, missense variant
rs1028668536	G>A	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs1165218506	T>C,G	Likely-pathogenic	Splice acceptor variant
rs1301146300	A>C	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs1308500116	A>G	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs1328983959	G>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1555523411	A>T	Pathogenic	Missense variant, intron variant, coding sequence variant
rs1567526805	G>A	Pathogenic	Coding sequence variant, stop gained
rs1567538216	T>C	Pathogenic	Intron variant, splice acceptor variant
rs1597515555	G>A	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, 3 prime UTR variant
rs1597559669	TGCTGCCACCTGGGAGAGAGGGGCCCTTGTCAGGCCACTGGGACCAGATGTCCCCAGGCCCTCCCCCTCCCTCCC>CACTGAGT	Pathogenic	Intron variant, coding sequence variant, splice acceptor variant
rs1597575641	G>A	Likely-pathogenic	Intron variant

155

Show/Hide all (155)

miRTarBase ID	miRNA	Experiments
MIRT1010587	hsa-miR-125a-5p	CLIP-seq
MIRT1010588	hsa-miR-125b	CLIP-seq
MIRT1010589	hsa-miR-142-5p	CLIP-seq
MIRT1010590	hsa-miR-1909	CLIP-seq
MIRT1010591	hsa-miR-3136-5p	CLIP-seq
MIRT1010592	hsa-miR-3171	CLIP-seq
MIRT1010593	hsa-miR-326	CLIP-seq
MIRT1010594	hsa-miR-330-5p	CLIP-seq
MIRT1010595	hsa-miR-331-3p	CLIP-seq
MIRT1010596	hsa-miR-340	CLIP-seq
MIRT1010597	hsa-miR-4269	CLIP-seq
MIRT1010598	hsa-miR-4283	CLIP-seq
MIRT1010599	hsa-miR-4287	CLIP-seq
MIRT1010600	hsa-miR-4319	CLIP-seq
MIRT1010601	hsa-miR-4324	CLIP-seq
MIRT1010602	hsa-miR-4329	CLIP-seq
MIRT1010603	hsa-miR-4426	CLIP-seq
MIRT1010604	hsa-miR-4439	CLIP-seq
MIRT1010605	hsa-miR-4469	CLIP-seq
MIRT1010606	hsa-miR-4489	CLIP-seq
MIRT1010607	hsa-miR-4513	CLIP-seq
MIRT1010608	hsa-miR-4643	CLIP-seq
MIRT1010609	hsa-miR-4645-5p	CLIP-seq
MIRT1010610	hsa-miR-4647	CLIP-seq
MIRT1010611	hsa-miR-466	CLIP-seq
MIRT1010612	hsa-miR-4662b	CLIP-seq
MIRT1010613	hsa-miR-4667-5p	CLIP-seq
MIRT1010614	hsa-miR-4673	CLIP-seq
MIRT1010615	hsa-miR-4685-3p	CLIP-seq
MIRT1010616	hsa-miR-4691-5p	CLIP-seq
MIRT1010617	hsa-miR-4700-5p	CLIP-seq
MIRT1010618	hsa-miR-4711-3p	CLIP-seq
MIRT1010619	hsa-miR-4724-5p	CLIP-seq
MIRT1010620	hsa-miR-4789-3p	CLIP-seq
MIRT1010621	hsa-miR-568	CLIP-seq
MIRT1010622	hsa-miR-581	CLIP-seq
MIRT1010623	hsa-miR-592	CLIP-seq
MIRT1010624	hsa-miR-599	CLIP-seq
MIRT1010625	hsa-miR-637	CLIP-seq
MIRT1010626	hsa-miR-642a	CLIP-seq
MIRT1999288	hsa-miR-3145-3p	CLIP-seq
MIRT1999289	hsa-miR-3170	CLIP-seq
MIRT1999290	hsa-miR-324-5p	CLIP-seq
MIRT1999291	hsa-miR-4260	CLIP-seq
MIRT1999292	hsa-miR-4276	CLIP-seq
MIRT1999293	hsa-miR-4470	CLIP-seq
MIRT1999294	hsa-miR-4484	CLIP-seq
MIRT1999295	hsa-miR-4719	CLIP-seq
MIRT1999296	hsa-miR-513b	CLIP-seq
MIRT1999297	hsa-miR-548g	CLIP-seq
MIRT1999288	hsa-miR-3145-3p	CLIP-seq
MIRT1999289	hsa-miR-3170	CLIP-seq
MIRT1999291	hsa-miR-4260	CLIP-seq
MIRT2232973	hsa-miR-4330	CLIP-seq
MIRT1999295	hsa-miR-4719	CLIP-seq
MIRT1999296	hsa-miR-513b	CLIP-seq
MIRT2536772	hsa-miR-1200	CLIP-seq
MIRT2536773	hsa-miR-1207-5p	CLIP-seq
MIRT2536774	hsa-miR-139-3p	CLIP-seq
MIRT1010589	hsa-miR-142-5p	CLIP-seq
MIRT2536775	hsa-miR-2355-5p	CLIP-seq
MIRT1999288	hsa-miR-3145-3p	CLIP-seq
MIRT1999289	hsa-miR-3170	CLIP-seq
MIRT1010592	hsa-miR-3171	CLIP-seq
MIRT2536776	hsa-miR-3197	CLIP-seq
MIRT1010596	hsa-miR-340	CLIP-seq
MIRT2536777	hsa-miR-3663-5p	CLIP-seq
MIRT2536778	hsa-miR-3672	CLIP-seq
MIRT2536779	hsa-miR-3713	CLIP-seq
MIRT1999291	hsa-miR-4260	CLIP-seq
MIRT1010599	hsa-miR-4287	CLIP-seq
MIRT1010601	hsa-miR-4324	CLIP-seq
MIRT2232973	hsa-miR-4330	CLIP-seq
MIRT1010603	hsa-miR-4426	CLIP-seq
MIRT2536780	hsa-miR-4463	CLIP-seq
MIRT1010605	hsa-miR-4469	CLIP-seq
MIRT1999293	hsa-miR-4470	CLIP-seq
MIRT1999294	hsa-miR-4484	CLIP-seq
MIRT1010608	hsa-miR-4643	CLIP-seq
MIRT1010610	hsa-miR-4647	CLIP-seq
MIRT2536781	hsa-miR-4649-3p	CLIP-seq
MIRT1010611	hsa-miR-466	CLIP-seq
MIRT1010612	hsa-miR-4662b	CLIP-seq
MIRT1010615	hsa-miR-4685-3p	CLIP-seq
MIRT1010618	hsa-miR-4711-3p	CLIP-seq
MIRT1999295	hsa-miR-4719	CLIP-seq
MIRT2536782	hsa-miR-4763-3p	CLIP-seq
MIRT1010620	hsa-miR-4789-3p	CLIP-seq
MIRT1999296	hsa-miR-513b	CLIP-seq
MIRT2536783	hsa-miR-544b	CLIP-seq
MIRT2536784	hsa-miR-548an	CLIP-seq
MIRT1999297	hsa-miR-548g	CLIP-seq
MIRT1010621	hsa-miR-568	CLIP-seq
MIRT1010622	hsa-miR-581	CLIP-seq
MIRT1010623	hsa-miR-592	CLIP-seq
MIRT1010624	hsa-miR-599	CLIP-seq
MIRT2536772	hsa-miR-1200	CLIP-seq
MIRT2536773	hsa-miR-1207-5p	CLIP-seq
MIRT2536774	hsa-miR-139-3p	CLIP-seq
MIRT1010589	hsa-miR-142-5p	CLIP-seq
MIRT2681336	hsa-miR-151-5p	CLIP-seq
MIRT2681337	hsa-miR-151b	CLIP-seq
MIRT2536775	hsa-miR-2355-5p	CLIP-seq
MIRT2681338	hsa-miR-2467-5p	CLIP-seq
MIRT1999288	hsa-miR-3145-3p	CLIP-seq
MIRT1999289	hsa-miR-3170	CLIP-seq
MIRT1010592	hsa-miR-3171	CLIP-seq
MIRT2681339	hsa-miR-3188	CLIP-seq
MIRT2536776	hsa-miR-3197	CLIP-seq
MIRT1999290	hsa-miR-324-5p	CLIP-seq
MIRT1010596	hsa-miR-340	CLIP-seq
MIRT2536777	hsa-miR-3663-5p	CLIP-seq
MIRT2536778	hsa-miR-3672	CLIP-seq
MIRT2536779	hsa-miR-3713	CLIP-seq
MIRT2681340	hsa-miR-3975	CLIP-seq
MIRT1999291	hsa-miR-4260	CLIP-seq
MIRT1010597	hsa-miR-4269	CLIP-seq
MIRT1010599	hsa-miR-4287	CLIP-seq
MIRT1010601	hsa-miR-4324	CLIP-seq
MIRT2232973	hsa-miR-4330	CLIP-seq
MIRT1010603	hsa-miR-4426	CLIP-seq
MIRT2681341	hsa-miR-4436a	CLIP-seq
MIRT2536780	hsa-miR-4463	CLIP-seq
MIRT1010605	hsa-miR-4469	CLIP-seq
MIRT1999293	hsa-miR-4470	CLIP-seq
MIRT1999294	hsa-miR-4484	CLIP-seq
MIRT2681342	hsa-miR-4514	CLIP-seq
MIRT1010608	hsa-miR-4643	CLIP-seq
MIRT1010610	hsa-miR-4647	CLIP-seq
MIRT2536781	hsa-miR-4649-3p	CLIP-seq
MIRT2681343	hsa-miR-4649-5p	CLIP-seq
MIRT1010611	hsa-miR-466	CLIP-seq
MIRT1010612	hsa-miR-4662b	CLIP-seq
MIRT1010615	hsa-miR-4685-3p	CLIP-seq
MIRT2681344	hsa-miR-4691-3p	CLIP-seq
MIRT2681345	hsa-miR-4692	CLIP-seq
MIRT1010618	hsa-miR-4711-3p	CLIP-seq
MIRT1999295	hsa-miR-4719	CLIP-seq
MIRT2681346	hsa-miR-4742-5p	CLIP-seq
MIRT2536782	hsa-miR-4763-3p	CLIP-seq
MIRT2681347	hsa-miR-4779	CLIP-seq
MIRT1010620	hsa-miR-4789-3p	CLIP-seq
MIRT2681348	hsa-miR-485-5p	CLIP-seq
MIRT2681349	hsa-miR-513a-5p	CLIP-seq
MIRT1999296	hsa-miR-513b	CLIP-seq
MIRT2536783	hsa-miR-544b	CLIP-seq
MIRT2536784	hsa-miR-548an	CLIP-seq
MIRT1999297	hsa-miR-548g	CLIP-seq
MIRT2681350	hsa-miR-552	CLIP-seq
MIRT1010621	hsa-miR-568	CLIP-seq
MIRT1010622	hsa-miR-581	CLIP-seq
MIRT1010623	hsa-miR-592	CLIP-seq
MIRT1010624	hsa-miR-599	CLIP-seq
MIRT2681351	hsa-miR-764	CLIP-seq
MIRT2681352	hsa-miR-765	CLIP-seq

Show/Hide all (13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003943	Function	N-acetylgalactosamine-4-sulfatase activity	TAS	8325655
GO:0004065	Function	Arylsulfatase activity	IBA
GO:0005576	Component	Extracellular region	TAS
GO:0005764	Component	Lysosome	IEA
GO:0005764	Component	Lysosome	IEA
GO:0008484	Function	Sulfuric ester hydrolase activity	IDA	15962010
GO:0016787	Function	Hydrolase activity	IEA
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0043202	Component	Lysosomal lumen	TAS
GO:0043890	Function	N-acetylgalactosamine-6-sulfatase activity	IEA
GO:0043890	Function	N-acetylgalactosamine-6-sulfatase activity	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145

MIM	HGNC	e!Ensembl
612222	4122	ENSG00000141012

P34059

Protein name

N-acetylgalactosamine-6-sulfatase (EC 3.1.6.4) (Chondroitinsulfatase) (Chondroitinase) (Galactose-6-sulfate sulfatase) (GalN6S) (N-acetylgalactosamine-6-sulfate sulfatase) (GalNAc6S sulfatase)

PDB

4FDI , 4FDJ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00884	Sulfatase	31 → 355	Sulfatase	Family
PF14707	Sulfatase_C	378 → 509		Domain

Sequence

MAAVVAATRWWQLLLVLSAAGMGASGAPQPPNILLLLMDDMGWGDLGVYGEPSRETPNLD
RMAAEGLLFPNFYSANPLCSPSRAALLTGRLPIRNGFYTTNAHARNAYTPQEIVGGIPDS
EQLLPELLKKAGYVSKIVGKWHLGHRPQFHPLKHGFDEWFGSPNCHFGPYDNKARPNIPV
YRDWEMVGRYYEEFPINLKTGEANLTQIYLQEALDFIKRQARHHPFFLYWAVDATHAPVY
ASKPFLGTSQRGRYGDAVREIDDSIGKILELLQDLHVADNTFVFFTSDNGAALISAPEQG
GSNGPFLCGKQTTFEGGMREPALAWWPGHVTAGQVSHQLGSIMDLFTTSLALAGLTPPSD
RAIDGLNLLPTLLQGRLMDRPIFYYRGDTLMAATLGQHKAHFWTWTNSWENFRQGIDFCP
GQNVSGVTTHNLEDHTKLPLIFHLGRDPGERFPLSFASAEYQEALSRITSVVQQHQEALV
PAQPQLNVCNWAVMNWAPPGCEKLGKCLTPPESIPKKCLWSH

Sequence length

522

Interactions

View interactions

	KEGG		Reactome
	Glycosaminoglycan degradation Metabolic pathways Lysosome		Keratan sulfate degradation MPS IV - Morquio syndrome A Neutrophil degranulation

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 (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the skeletal system	Likely pathogenic	rs1597570621	RCV001814568	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GALNS-related disorder	Likely pathogenic; Pathogenic	rs2143001165, rs145798311, rs1209154325, rs1567519109, rs1444754604, rs398123437	RCV003407849 RCV004742418 RCV003420080 RCV003918242 RCV003908434 RCV003905045 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Melanoma	Likely pathogenic; Pathogenic	rs1275386976	RCV005911188	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Morquio syndrome	Likely pathogenic; Pathogenic	rs772413313, rs746086649, rs894525161, rs745523154, rs975409254, rs1567530426, rs768664270, rs753051547, rs747805226, rs763184657, rs727503946, rs191519947, rs118204437, rs118204438, rs118204441 View all (25 more)	RCV004579572 RCV002222703 RCV003331131 RCV002509670 RCV002271645 View all (36 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mucopolysaccharidosis, MPS-IV-A	Likely pathogenic; Pathogenic	rs772413313, rs1909832718, rs1245504167, rs1348149236, rs753053516, rs1223848239, rs2142967340, rs2142982313, rs1330564240, rs1472489567, rs1567517083, rs2142992359, rs2142992383, rs1295162107, rs2142992407 View all (219 more)	RCV001321220 RCV001332505 RCV001783343 RCV001578464 RCV001578447 View all (255 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Skeletal dysplasia	Likely pathogenic; Pathogenic	rs569725936, rs398123438	RCV002272233 RCV002272058	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (19)

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.
Abnormality of metabolism/homeostasis	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATYPICAL FEMORAL FRACTURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOPOLYSACCHARIDOSIS IV	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOPOLYSACCHARIDOSIS TYPE 4A	—	ClinGen, GenCC, Orphanet ClinGen, GenCC, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOPOLYSACCHARIDOSIS, TYPE IVA	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ 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 (80)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
2,8-Dihydroxyadenine Urolithiasis	2,8-Dihydroxyadenine Urolithiasis	BEFREE	10479485		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acne	Acne	BEFREE	30206454		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acne Vulgaris	Acne	BEFREE	30206454		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	23389729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	18263814, 22140259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	31149043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	31625412		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	31625412		★★★★★ ★☆☆☆☆ Found in Text Mining only
beta-Galactosidase Deficiency	Beta-Galactosidase Deficiency	BEFREE	3129222		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	29158412	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	9892105		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	31704862		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervical myelopathy	Cervical myelopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	20949125		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	10645005		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	21651746, 30760748		★★★★★ ★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	29158412	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29987213		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29987213		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic dysplasia	Pubtator	8702490	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	30980944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	12728175, 16287098, 16539564, 17347914, 21506915, 22358740, 22543891, 23371450, 23385297, 25897204, 27774754, 28428354, 7741581, 9189888		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	32014045	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
GALNS Deficiency	GALNS Deficiency	BEFREE	10479485, 16219627, 31200731		★★★★★ ★☆☆☆☆ Found in Text Mining only
GALNS Deficiency	GALNS Deficiency	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	23762025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	23762025	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	32014045	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	31704862		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	31625412		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	BEFREE	28732478		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	24982418	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophy of tonsils	Hypertrophy Of Tonsils	BEFREE	21159925		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	31704862		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	9892105		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	31704862		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28771526		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	23041326, 9722530		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	3148597, 31704862		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	12519080	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mental disorders	Mental Disorders	BEFREE	16676683		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Bone Disorder	Metabolic Bone Disorder	BEFREE	30094186		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	24411403		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidoses	Mucopolysaccharidosis	Pubtator	18285341	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis IV	Mucopolysaccharidosis	BEFREE	10479485, 1755850, 18792995, 23313879, 3087664, 3129221, 3129222, 3129223, 6773185, 8826435, 8829629		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis IV	Mucopolysaccharidosis	CLINVAR_DG	10814710, 15235041, 22976768, 23876334, 24726177, 25287660, 25433535, 25501214, 8829629, 9298823, 9385378, 9401012, 9521421		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis IV	Mucopolysaccharidosis	Pubtator	1522213, 21251309, 23371450, 23876334, 24726177, 25496828, 25501214, 27317439, 27378276, 28724898, 29275451, 30235707, 30305043, 30797135, 30927141 View all (15 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis IV	Mucopolysaccharidosis	GENOMICS_ENGLAND_DG	15305357, 27604308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis IV	Mucopolysaccharidosis	Pubtator	29276444	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis IV	Mucopolysaccharidosis	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis type 4A	Mucopolysaccharidosis	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis type IVB	Mucopolysaccharidosis	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis, MPS-IV-A	Mucopolysaccharidosis	BEFREE	10479485, 10699374, 11686941, 1522213, 16219627, 16378744, 17347914, 18584975, 20574428, 21251309, 22078177, 22178352, 22940367, 23313879, 23371450 View all (30 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mucopolysaccharidosis, MPS-IV-A	Mucopolysaccharidosis	CLINVAR_DG	10814710, 12442278, 15235041, 15309681, 16287098, 16837223, 17876718, 22940367, 22976768, 23227063, 23401410, 23876334, 24411403, 24726177, 25137622 View all (13 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mucopolysaccharidosis, MPS-IV-A	Mucopolysaccharidosis	UNIPROT_DG	1522213, 16287098, 24726177, 7581409, 7633425, 7668283, 7795586, 8651279, 8826435, 9298823, 9375852, 9521421		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mucopolysaccharidosis, MPS-IV-A	Mucopolysaccharidosis	GENOMICS_ENGLAND_DG	15305357, 27604308		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mucopolysaccharidosis, MPS-IV-A	Mucopolysaccharidosis	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Myositis	Myositis	BEFREE	21788381		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	17991745	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	9662339		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	23876334		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	31625412		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pharyngitis	Pharyngitis	BEFREE	12654842, 16157543, 21799202, 23179674, 23447639, 23762025, 24449444, 26443457, 27692341, 28121967, 28355251, 29104937, 29189607, 29868516, 29967988, 30247119, 31239377, 31735631 View all (3 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28771526		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28771526	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism	Pseudohypoparathyroidism	Pubtator	24982418	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	30760748	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pyoderma	Pyoderma	BEFREE	28121967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatic Fever	Rheumatic fever	Pubtator	23762025	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatic Heart Disease	Rheumatic Heart Disease	BEFREE	12473244, 17172649, 23179674, 31609963		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	22140259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	23876334		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Stomach Carcinoma	Stomach Carcinoma	BEFREE	23041326, 9722530		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Hormone Resistance Syndrome	Thyroid hormone resistance	Pubtator	36835474	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation, Paroxysmal Familial, 1	Ventricular Fibrillation	BEFREE	18792995		★★★★★ ★☆☆☆☆ Found in Text Mining only

GALNS (galactosamine (N-acetyl)-6-sulfatase)