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

Gene

• Entrez ID: 2588
• Gene name: Galactosamine (N-acetyl)-6-sulfatase
• Gene symbol: GALNS
• Synonyms: GALNAC6S, GAS, GalN6S, MPS4A
• 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

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003943	Function	N-acetylgalactosamine-4-sulfatase activity	TAS	8325655
GO:0004065	Function	Arylsulfatase activity	IBA	21873635
GO:0005576	Component	Extracellular region	TAS
GO:0008484	Function	Sulfuric ester hydrolase activity	IDA	15962010
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0042340	Process	Keratan sulfate catabolic process	TAS
GO:0043202	Component	Lysosomal lumen	TAS
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0043890	Function	N-acetylgalactosamine-6-sulfatase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145

Other IDs

• MIM: 612222
• HGNC: 4122
• e!Ensembl: ENSG00000141012

Protein

• UniProt ID: 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

Pathways

KEGG:

Glycosaminoglycan degradation
Metabolic pathways
Lysosome

Reactome:

Keratan sulfate degradation
MPS IV - Morquio syndrome A
Neutrophil degranulation

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs1801155, rs121908380, rs121908702, rs267606674, rs4939827, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553149467, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208
Mucopolysaccharidosis	Mucopolysaccharidosis IV, Mucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis type IVB, Mucopolysaccharidosis type 4A	rs118204435, rs118204437, rs118204438, rs118204439, rs118204441, rs118204442, rs118204448, rs118204443, rs118204444, rs118204449, rs118204446, rs118204447, rs118203939, rs118203941, rs431905493, rs431905494, rs118203942, rs118203943, rs118203944, rs431905495, rs431905496, rs121918172, rs121918173, rs121918174, rs121918177, rs121918179, rs377519272, rs121918183, rs786200863, rs121918180, rs121918181, rs121918182, rs121918184, rs121918185, rs72555360, rs72555390, rs28934274, rs72555362, rs72555391, rs72555363, rs587776525, rs72555364, rs72555366, rs72555367, rs72555372, rs72555368, rs72555392, rs587776526, rs193066451, rs483352894, rs121908282, rs121908283, rs483352895, rs483352896, rs121908286, rs104894590, rs104894591, rs104894592, rs483352897, rs104894594, rs104894595, rs104894597, rs104894598, rs118204024, rs118204025, rs104894596, rs104894601, rs34788341, rs34159654, rs119461974, rs483352898, rs119461975, rs483352899, rs483352900, rs104894635, rs104894636, rs104894641, rs104894637, rs104894638, rs104894639, rs104894640, rs104894643, rs199422227, rs104894853, rs199422228, rs104894856, rs104894860, rs113993948, rs199422229, rs104894861, rs199422230, rs483352904, rs199422231, rs113993946, rs2124007227, rs483352905, rs121965019, rs121965020, rs121965021, rs121965022, rs121965023, rs121965025, rs121965026, rs121965027, rs387906504, rs786200915, rs121965029, rs121965032, rs121965033, rs267606838, rs104894862, rs199794428, rs138504221, rs483352908, rs34901902, rs281865037, rs34946266, rs35878526, rs398123123, rs398123125, rs398123248, rs113993949, rs398123249, rs398123250, rs368454909, rs398123256, rs398123258, rs398123259, rs398123260, rs200726100, rs398123281, rs398123429, rs398123430, rs372893383, rs398123437, rs398123438, rs398123439, rs398123440, rs398124544, rs398124545, rs587779400, rs527236038, rs527236037, rs199801029, rs727503809, rs727503952, rs797044502, rs727503967, rs727504028, rs201101343, rs794726877, rs794727165, rs797044671, rs794727240, rs797044703, rs189115557, rs794727840, rs778700037, rs797044782, rs746756997, rs796052122, rs864622773, rs113993951, rs864622772, rs864622777, rs193302906, rs864622771, rs193302912, rs193302913, rs193302907, rs864622778, rs113993945, rs864622779, rs193302904, rs113993947, rs193302908, rs864622776, rs193302910, rs193302911, rs781997631, rs113993955, rs864622775, rs869025307, rs869025306, rs869025303, rs869025308, rs869025302, rs869025305, rs869025304, rs869025301, rs1557340558, rs777295041, rs762411583, rs869025584, rs764196171, rs758452450, rs747981483, rs761850746, rs370717845, rs376710410, rs148789453, rs753355844, rs770053354, rs146093755, rs143947056, rs886039894, rs886039895, rs886039914, rs144143780, rs886041370, rs121965031, rs777956287, rs199638097, rs376663785, rs886044835, rs886044837, rs886043347, rs752914124, rs886043792, rs757926581, rs781439830, rs766938111, rs753520553, rs376090795, rs374621913, rs745386663, rs779703983, rs753666460, rs1057517927, rs1057518644, rs750531880, rs1057521801, rs145798311, rs1064793027, rs1064795109, rs1085307112, rs776327443, rs1085307880, rs1085308006, rs762614315, rs1052471595, rs1555620827, rs1557339887, rs1196325597, rs1255777033, rs1554032122, rs749465732, rs1554032196, rs1554032220, rs766772376, rs1557339507, rs1553917209, rs1557338581, rs765711776, rs371886102, rs1488660868, rs1553917754, rs1554032243, rs1434169374, rs1244655820, rs991104525, rs794727896, rs772416503, rs1557340221, rs1053785648, rs1557340286, rs755710040, rs770947426, rs761607612, rs149239881, rs1028668536, rs1209154325, rs948490589, rs746776254, rs1557340403, rs148881970, rs555145190, rs745864233, rs537013895, rs1555621662, rs529855742, rs1264013707, rs755832705, rs775732598, rs1308500116, rs1557340233, rs1557340280, rs1557339927, rs759384989, rs1553607014, rs776098539, rs1230096882, rs762903007, rs1340421020, rs398123254, rs761793564, rs1249951282, rs779762183, rs746766617, rs1445719596, rs1553917428, rs192732174, rs1553917733, rs745915863, rs746936485, rs778700089, rs1553917756, rs780615798, rs794727701, rs1293215555, rs1553917044, rs762779421, rs1033313360, rs1430681871, rs994902207, rs1553917566, rs1553917192, rs1553917216, rs1214495121, rs776787370, rs750496798, rs919151683, rs756572099, rs754949360, rs991612107, rs1553917699, rs1553914737, rs1553914762, rs1553914740, rs1553914935, rs1554531744, rs775078211, rs1554537612, rs1554537807, rs1554532283, rs762402992, rs1447092074, rs1554533211, rs766835582, rs1554537613, rs1554537841, rs1554526454, rs749568919, rs747240928, rs1013345784, rs1555621448, rs1555621442, rs1431589133, rs1555621454, rs756865833, rs770684838, rs1555622019, rs1555622441, rs1555622351, rs1555622488, rs1555622545, rs1555622443, rs1555622559, rs751203469, rs1555621402, rs1555621432, rs1445294968, rs1555622002, rs1358994052, rs768918822, rs1180591588, rs781572815, rs1555622242, rs904672363, rs1424242431, rs1555620141, rs768814260, rs1555621984, rs1323958195, rs1555622354, rs200909691, rs1555621659, rs1555622533, rs1195831432, rs1555621397, rs777267343, rs764057581, rs1430122594, rs758785463, rs764134891, rs753472891, rs1555621425, rs1555621971, rs778336949, rs1555624080, rs1555622000, rs1555622250, rs1485628563, rs114625063, rs138387856, rs1250949842, rs778021009, rs1396150639, rs992677795, rs762031686, rs1555622505, rs763299645, rs1364203992, rs1555620214, rs774010006, rs1555622888, rs1555624111, rs1250300189, rs772311757, rs1174495581, rs1554069655, rs1554069660, rs1310996698, rs1251438062, rs771113472, rs1554069668, rs1554069669, rs1211360114, rs1209412483, rs769996056, rs200188234, rs555785323, rs1171277553, rs1554069786, rs1554069791, rs1554069793, rs1554069808, rs1554074118, rs771296632, rs1554074124, rs200793396, rs1554074132, rs1554074135, rs781510986, rs746396210, rs1554079265, rs1554079268, rs1554079284, rs1554079296, rs756671977, rs79970603, rs1554079302, rs1554079312, rs773492223, rs1554079318, rs1554079320, rs891298440, rs749989641, rs1408739927, rs779378413, rs147495977, rs1554086368, rs1554086370, rs1554086402, rs749015246, rs1554086414, rs1554086417, rs778868348, rs1554087395, rs1554087406, rs773460207, rs1554087423, rs1554087439, rs1554087441, rs1554087445, rs1484763838, rs1554088002, rs757061042, rs746206847, rs766914147, rs1554088079, rs1554088081, rs1554088099, rs768802200, rs1554089838, rs1554032090, rs1554032094, rs751010538, rs1554032110, rs1554032118, rs1299207831, rs1554032129, rs1554032131, rs750845916, rs1554032134, rs1554032145, rs1554032153, rs397514441, rs1554032155, rs1554032160, rs1179935748, rs1554032216, rs1554032217, rs1554032222, rs1028653411, rs1554032252, rs1559401428, rs754966840, rs756310864, rs1567538216, rs200374326, rs1557338127, rs1569560489, rs1567891258, rs1238361161, rs1567890328, rs1451709678, rs1567914459, rs1554032099, rs1567526805, rs1567893399, rs147036053, rs935464108, rs772656696, rs1569560392, rs1569560527, rs1569560528, rs1165218506, rs1369704445, rs369090960, rs1365770233, rs1599253805, rs1598738369, rs1598738720, rs1479831530, rs1598758001, rs1602725543, rs782347729, rs1602725808, rs1602740912, rs1602742620, rs1602742854, rs193302909, rs1577544451, rs748454316, rs752939204, rs1356329915, rs753767675, rs1577508778, rs1577508801, rs1167459660, rs1580121683, rs1328983959, rs1598749661, rs1598749984, rs1602734459, rs1602750400, rs4690223, rs773746427, rs1602748255, rs1264172545, rs760300454, rs1597575641, rs761725425, rs1599253815, rs1602745838, rs1602730439, rs1577541504, rs1353058781, rs774605197, rs1715086654, rs1715123409, rs931627770, rs1715188461, rs1386109118, rs1715237631, rs1220371654, rs1715290919, rs727503966, rs1355071930, rs1747989303, rs1910636198, rs1288895691, rs1422505598, rs1967935603, rs1305299665, rs2089305017, rs2089342939, rs2089378583, rs2089436271, rs750645480, rs911877265, rs1245939928, rs1557339532, rs2089306467, rs1967935882, rs1910631809, rs1910973930, rs559063128, rs1912009292, rs1478665723, rs746949976	27604308, 10814710, 9298823, 25501214, 15305357, 9401012, 23876334, 9385378, 24726177, 15235041, 22976768, 9521421, 25287660, 25433535, 8829629, 27604308, 16287098, 23876334, 9298823, 23227063, 26147980, 15305357, 22976768, 24411403, 7987329, 23401410, 29275451, 7795586, 8651279, 8826435, 10814710, 25287660, 9521421, 9375852, 7668283, 16837223, 9385378, 15235041, 22940367, 25137622, 25252036, 17876718, 24726177, 1522213, 12442278, 7633425, 25364648, 15309681, 25433535, 7581409
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease name	Disease term	dbSNP ID	References
Cervical myelopathy	Cervical myelopathy
Dysmorphic features	Dysmorphic features		16539564, 22358740, 12728175, 16287098, 9189888, 28428354, 7741581, 21506915, 27774754, 22543891, 17347914, 23385297, 25897204, 23371450
Galns deficiency	GALNS Deficiency
Macrostomia	Macrostomia
Malocclusion	Class III malocclusion