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

1330

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the skeletal system	Likely pathogenic	rs1597570621	RCV001814568
GALNS-related disorder	Likely pathogenic; Pathogenic	rs2143001165, rs145798311, rs1209154325, rs1567519109, rs1444754604, rs398123437	RCV003407849 RCV004742418 RCV003420080 RCV003918242 RCV003908434 RCV003905045
Melanoma	Likely pathogenic; Pathogenic	rs1275386976	RCV005911188
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 RCV003987848 RCV003388001 RCV004017823 RCV005419099 RCV003331129 RCV003323865 RCV001732134 RCV000781397 RCV000295527 RCV005417407 RCV003234884 RCV000781400 RCV001193132 RCV001193737 RCV003155092 RCV001193735 RCV004017572 RCV003230469 RCV001193130 RCV005240860 RCV003323515 RCV003155036 RCV002230025 RCV001193736 RCV005407827 RCV002222567 RCV001193733 RCV000781399 RCV000781398 RCV001193734 RCV004017767 RCV005236505 RCV004702591 RCV001193131 RCV001201184 RCV002509202
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 RCV001578438 RCV001578439 RCV001578437 RCV001578342 RCV001578339 RCV001578617 RCV001578614 RCV001578608 RCV001578607 RCV001578606 RCV001578605 RCV001578457 RCV001578454 RCV001578453 RCV001358674 RCV001578449 RCV001578448 RCV001578430 RCV001578428 RCV001578424 RCV001578421 RCV001578336 RCV001578332 RCV001578330 RCV001578602 RCV001578601 RCV001578596 RCV001578592 RCV001578537 RCV001358675 RCV001578536 RCV001578535 RCV001578420 RCV001578416 RCV001578412 RCV001578324 RCV001578321 RCV001578585 RCV001578582 RCV001578580 RCV001578530 RCV001578523 RCV001578524 RCV001578525 RCV001578400 RCV001578398 RCV001578395 RCV001578313 RCV001389838 RCV001578310 RCV001578308 RCV001578307 RCV001578305 RCV001578302 RCV001578575 RCV001578573 RCV001578572 RCV001578571 RCV001578569 RCV001578568 RCV001578567 RCV001578566 RCV001578520 RCV001384617 RCV001578515 RCV001578508 RCV001578510 RCV001578392 RCV001578387 RCV001578381 RCV001578300 RCV001578298 RCV001578293 RCV001578559 RCV001578558 RCV001578556 RCV001578507 RCV001578505 RCV001578501 RCV001578504 RCV001578503 RCV001578500 RCV001578377 RCV001578376 RCV001578374 RCV001578372 RCV001377627 RCV001578291 RCV001578288 RCV001578280 RCV001578549 RCV001578543 RCV001578497 RCV001578495 RCV001578492 RCV001578491 RCV001578364 RCV001578362 RCV001578481 RCV001578479 RCV001578478 RCV001578473 RCV001578353 RCV001578352 RCV001578349 RCV001543344 RCV001578347 RCV001379250 RCV001376895 RCV001377054 RCV001380332 RCV001389049 RCV001619759 RCV001783342 RCV001782169 RCV001844799 RCV001999101 RCV001973323 RCV001934677 RCV001958921 RCV002000222 RCV002002426 RCV002004157 RCV001894189 RCV001970060 RCV001883680 RCV002003611 RCV001963270 RCV002023736 RCV002021121 RCV000000733 RCV000000735 RCV000000738 RCV000000739 RCV000000740 RCV000000741 RCV000000742 RCV000000743 RCV000000744 RCV000000746 RCV000000748 RCV000000749 RCV002227893 RCV002227905 RCV002249051 RCV002251196 RCV002291514 RCV001294423 RCV002508751 RCV001389837 RCV002614535 RCV002843728 RCV002903566 RCV002943063 RCV003022304 RCV003030563 RCV003046821 RCV003047594 RCV000210353 RCV003145782 RCV003222545 RCV000701162 RCV000691262 RCV000818831 RCV003326686 RCV003312991 RCV003313762 RCV003318423 RCV003388659 RCV003444401 RCV003486317 RCV003496146 RCV003495435 RCV003495403 RCV003497028 RCV003497052 RCV003497273 RCV003494644 RCV003495045 RCV003495861 RCV003495774 RCV003496794 RCV003598195 RCV003599097 RCV003599212 RCV003599539 RCV003599575 RCV003599485 RCV003599563 RCV003599382 RCV003599729 RCV003599725 RCV003597598 RCV003597523 RCV003597555 RCV003597585 RCV003598462 RCV003598651 RCV003842319 RCV003870117 RCV003883386 RCV003883387 RCV003883388 RCV003883424 RCV000374370 RCV000000750 RCV004577241 RCV004577257 RCV004577258 RCV004586513 RCV004595336 RCV001861541 RCV000633462 RCV001235768 RCV000763388 RCV001578493 RCV000625916 RCV000626204 RCV000633458 RCV000633461 RCV000633457 RCV000633459 RCV000693803 RCV000690516 RCV000760156 RCV000801546 RCV001578586 RCV000796738 RCV000806517 RCV000799902 RCV000985198 RCV000985199 RCV000989653 RCV001053095 RCV001037304 RCV001062057 RCV001051437 RCV001051438 RCV001090039 RCV001093707 RCV001093709 RCV001093710 RCV001093711 RCV001093713 RCV001095388 RCV001578373 RCV001207376 RCV001214626 RCV001389836 RCV001578422 RCV001578462 RCV001382243 RCV001578563 RCV000178782 RCV001578303
Skeletal dysplasia	Likely pathogenic; Pathogenic	rs569725936, rs398123438	RCV002272233 RCV002272058

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abnormality of metabolism/homeostasis	Conflicting classifications of pathogenicity	rs556060696	RCV001814310
Acute myeloid leukemia	Likely benign	rs117163814	RCV005919099
Cervical cancer	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	rs117163814, rs7187565, rs138555898, rs377407678	RCV005919101 RCV005924679 RCV005894572 RCV005913554
Cholangiocarcinoma	Likely benign; Benign	rs117163814, rs11076722	RCV005919106 RCV005903890
Gastric cancer	Likely benign	rs117163814	RCV005919104
Malignant lymphoma, large B-cell, diffuse	Likely benign	rs117163814	RCV005919102
Malignant tumor of esophagus	Likely benign; Benign; Uncertain significance	rs117163814, rs7187565, rs780778562	RCV005919100 RCV005924678 RCV005923985
Ovarian serous cystadenocarcinoma	Likely benign; Conflicting classifications of pathogenicity	rs117163814, rs138555898	RCV005919105 RCV005894573
Sarcoma	Likely benign; Benign	rs117163814, rs76651187	RCV005919103 RCV005894571
Thymoma	Benign	rs7187565	RCV005924680
Uterine carcinosarcoma	Benign	rs11076722	RCV005903889
Uterine corpus endometrial carcinoma	Likely benign; Benign	rs117163814, rs7187565	RCV005919107 RCV005924681

Show/Hide Text Mining Associations (32)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Achondrogenesis type 1B	Associate	8702490
Bone Diseases	Associate	29158412
Carcinoma Non Small Cell Lung	Associate	25713071
Cognition Disorders	Associate	29158412
Diastrophic dysplasia	Associate	8702490
Fabry Disease	Associate	32014045
Fibrous Dysplasia of Bone	Associate	29158412
Fibrous Dysplasia Polyostotic	Associate	36835474
Fractures Bone	Associate	29158412
Glomerulonephritis	Stimulate	23762025
Glycogen Storage Disease Type II	Associate	32014045
Hyperkinesis	Associate	24982418
Kashin Beck Disease	Associate	24857976
Lysosomal Storage Diseases	Associate	27378276
Melanoma	Associate	12519080
Metabolism Inborn Errors	Inhibit	1522213
Metabolism Inborn Errors	Associate	1522213
Mucopolysaccharidoses	Associate	18285341
Mucopolysaccharidosis IV	Associate	1522213, 21251309, 23371450, 23876334, 24726177, 25496828, 25501214, 27317439, 27378276, 28724898, 29275451, 30235707, 30305043, 30797135, 30927141 View all (15 more)
Mucopolysaccharidosis IV	Inhibit	29276444
Multiple Organ Failure	Associate	25496828
Neoplasms	Associate	24982418, 36835474
Neuroblastoma	Associate	17991745
Pain	Associate	29158412
Pharyngitis	Associate	23762025, 23977078
Primary Myelofibrosis	Associate	29158412
Prostatic Neoplasms	Associate	28771526
Prosthesis Failure	Associate	18634020
Pseudohypoparathyroidism	Associate	24982418
Pulmonary Disease Chronic Obstructive	Associate	30760748
Rheumatic Fever	Associate	23762025
Thyroid Hormone Resistance Syndrome	Associate	36835474

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