FUCA1 (alpha-L-fucosidase 1)

Gene

• Entrez ID: 2517
• Gene name: Alpha-L-fucosidase 1
• Gene symbol: FUCA1
• Synonyms: FUCA
• Chromosome: 1
• Chromosome location: 1p36.11
• Summary: The protein encoded by this gene is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. Mutations in this gene are associated with fucosidosis (FUCA1D), which is an autosomal recessive lysosomal storage disea

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs80358195	C>A,G	Pathogenic	Missense variant, coding sequence variant, stop gained
rs80358196	G>A	Pathogenic	5 prime UTR variant, genic upstream transcript variant, stop gained, upstream transcript variant, coding sequence variant
rs80358197	C>T	Pathogenic	Coding sequence variant, stop gained
rs80358198	G>A,T	Benign, pathogenic	Synonymous variant, coding sequence variant, stop gained
rs80358199	A>C	Pathogenic	Missense variant, coding sequence variant
rs118204450	G>A	Pathogenic	Stop gained, coding sequence variant
rs189315801	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant, 5 prime UTR variant
rs587779398	G>A	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs587779399	G>A	Pathogenic	Stop gained, coding sequence variant
rs753232669	C>A,G	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs781230182	A>G,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant, 5 prime UTR variant
rs794727774	C>T	Pathogenic	Coding sequence variant, stop gained
rs864309551	C>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1057521087	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1557510081	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1570679652	C>T	Pathogenic	Splice donor variant
rs1570692560	AACCAGGCCG>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT727636	hsa-miR-30a-5p	HITS-CLIP	22473208
MIRT727635	hsa-miR-30b-5p	HITS-CLIP	22473208
MIRT727634	hsa-miR-30c-5p	HITS-CLIP	22473208
MIRT727632	hsa-miR-30d-5p	HITS-CLIP	22473208
MIRT727633	hsa-miR-30e-5p	HITS-CLIP	22473208
MIRT1006087	hsa-miR-1208	CLIP-seq
MIRT1006088	hsa-miR-1256	CLIP-seq
MIRT1006089	hsa-miR-181a	CLIP-seq
MIRT1006090	hsa-miR-181b	CLIP-seq
MIRT1006091	hsa-miR-181c	CLIP-seq
MIRT1006092	hsa-miR-181d	CLIP-seq
MIRT1006093	hsa-miR-2278	CLIP-seq
MIRT1006094	hsa-miR-23a	CLIP-seq
MIRT1006095	hsa-miR-23b	CLIP-seq
MIRT1006096	hsa-miR-23c	CLIP-seq
MIRT1006097	hsa-miR-30a	CLIP-seq
MIRT1006098	hsa-miR-30b	CLIP-seq
MIRT1006099	hsa-miR-30c	CLIP-seq
MIRT1006100	hsa-miR-30d	CLIP-seq
MIRT1006101	hsa-miR-30e	CLIP-seq
MIRT1006102	hsa-miR-3164	CLIP-seq
MIRT1006103	hsa-miR-34c-3p	CLIP-seq
MIRT1006104	hsa-miR-3607-3p	CLIP-seq
MIRT1006105	hsa-miR-3667-3p	CLIP-seq
MIRT1006106	hsa-miR-3910	CLIP-seq
MIRT1006107	hsa-miR-4262	CLIP-seq
MIRT1006108	hsa-miR-4468	CLIP-seq
MIRT1006109	hsa-miR-4484	CLIP-seq
MIRT1006110	hsa-miR-4760-5p	CLIP-seq
MIRT1006111	hsa-miR-500a	CLIP-seq
MIRT1006112	hsa-miR-548an	CLIP-seq
MIRT1006113	hsa-miR-633	CLIP-seq
MIRT1006114	hsa-miR-664	CLIP-seq
MIRT1006087	hsa-miR-1208	CLIP-seq
MIRT1006097	hsa-miR-30a	CLIP-seq
MIRT1006098	hsa-miR-30b	CLIP-seq
MIRT1006099	hsa-miR-30c	CLIP-seq
MIRT1006100	hsa-miR-30d	CLIP-seq
MIRT1006101	hsa-miR-30e	CLIP-seq
MIRT1006103	hsa-miR-34c-3p	CLIP-seq
MIRT1006104	hsa-miR-3607-3p	CLIP-seq
MIRT1006110	hsa-miR-4760-5p	CLIP-seq
MIRT2231770	hsa-miR-579	CLIP-seq
MIRT1006113	hsa-miR-633	CLIP-seq
MIRT1006114	hsa-miR-664	CLIP-seq
MIRT1006087	hsa-miR-1208	CLIP-seq
MIRT1006097	hsa-miR-30a	CLIP-seq
MIRT1006098	hsa-miR-30b	CLIP-seq
MIRT1006099	hsa-miR-30c	CLIP-seq
MIRT1006100	hsa-miR-30d	CLIP-seq
MIRT1006101	hsa-miR-30e	CLIP-seq
MIRT1006103	hsa-miR-34c-3p	CLIP-seq
MIRT1006104	hsa-miR-3607-3p	CLIP-seq
MIRT1006110	hsa-miR-4760-5p	CLIP-seq
MIRT1006088	hsa-miR-1256	CLIP-seq
MIRT2535778	hsa-miR-1273g	CLIP-seq
MIRT2535779	hsa-miR-1293	CLIP-seq
MIRT2535780	hsa-miR-133a	CLIP-seq
MIRT2535781	hsa-miR-133b	CLIP-seq
MIRT2535782	hsa-miR-154	CLIP-seq
MIRT2535783	hsa-miR-3121-3p	CLIP-seq
MIRT2535784	hsa-miR-3129-3p	CLIP-seq
MIRT2535785	hsa-miR-3148	CLIP-seq
MIRT1006102	hsa-miR-3164	CLIP-seq
MIRT2535786	hsa-miR-326	CLIP-seq
MIRT2535787	hsa-miR-330-5p	CLIP-seq
MIRT2535788	hsa-miR-34b	CLIP-seq
MIRT2535789	hsa-miR-361-5p	CLIP-seq
MIRT2535790	hsa-miR-3662	CLIP-seq
MIRT1006105	hsa-miR-3667-3p	CLIP-seq
MIRT2535791	hsa-miR-3674	CLIP-seq
MIRT1006106	hsa-miR-3910	CLIP-seq
MIRT2535792	hsa-miR-3913-3p	CLIP-seq
MIRT2535793	hsa-miR-3919	CLIP-seq
MIRT2535794	hsa-miR-3925-5p	CLIP-seq
MIRT2535795	hsa-miR-3935	CLIP-seq
MIRT2535796	hsa-miR-3978	CLIP-seq
MIRT2535797	hsa-miR-4277	CLIP-seq
MIRT2535798	hsa-miR-4330	CLIP-seq
MIRT2535799	hsa-miR-4483	CLIP-seq
MIRT1006109	hsa-miR-4484	CLIP-seq
MIRT2535800	hsa-miR-4695-3p	CLIP-seq
MIRT2535801	hsa-miR-4699-5p	CLIP-seq
MIRT2535802	hsa-miR-4756-3p	CLIP-seq
MIRT2535803	hsa-miR-4773	CLIP-seq
MIRT1006111	hsa-miR-500a	CLIP-seq
MIRT2535804	hsa-miR-510	CLIP-seq
MIRT2535805	hsa-miR-512-5p	CLIP-seq
MIRT1006112	hsa-miR-548an	CLIP-seq
MIRT2535806	hsa-miR-563	CLIP-seq
MIRT2535807	hsa-miR-577	CLIP-seq
MIRT2535808	hsa-miR-9	CLIP-seq
MIRT1006088	hsa-miR-1256	CLIP-seq
MIRT2535778	hsa-miR-1273g	CLIP-seq
MIRT2535780	hsa-miR-133a	CLIP-seq
MIRT2535781	hsa-miR-133b	CLIP-seq
MIRT2535782	hsa-miR-154	CLIP-seq
MIRT2535783	hsa-miR-3121-3p	CLIP-seq
MIRT2535784	hsa-miR-3129-3p	CLIP-seq
MIRT2535785	hsa-miR-3148	CLIP-seq
MIRT1006102	hsa-miR-3164	CLIP-seq
MIRT2535786	hsa-miR-326	CLIP-seq
MIRT2535787	hsa-miR-330-5p	CLIP-seq
MIRT2535788	hsa-miR-34b	CLIP-seq
MIRT2535789	hsa-miR-361-5p	CLIP-seq
MIRT2535790	hsa-miR-3662	CLIP-seq
MIRT1006105	hsa-miR-3667-3p	CLIP-seq
MIRT1006106	hsa-miR-3910	CLIP-seq
MIRT2535792	hsa-miR-3913-3p	CLIP-seq
MIRT2535793	hsa-miR-3919	CLIP-seq
MIRT2535794	hsa-miR-3925-5p	CLIP-seq
MIRT2535796	hsa-miR-3978	CLIP-seq
MIRT2535797	hsa-miR-4277	CLIP-seq
MIRT2535798	hsa-miR-4330	CLIP-seq
MIRT1006108	hsa-miR-4468	CLIP-seq
MIRT1006109	hsa-miR-4484	CLIP-seq
MIRT2535800	hsa-miR-4695-3p	CLIP-seq
MIRT2535801	hsa-miR-4699-5p	CLIP-seq
MIRT2535802	hsa-miR-4756-3p	CLIP-seq
MIRT2535803	hsa-miR-4773	CLIP-seq
MIRT1006111	hsa-miR-500a	CLIP-seq
MIRT2681224	hsa-miR-503	CLIP-seq
MIRT2535804	hsa-miR-510	CLIP-seq
MIRT2535805	hsa-miR-512-5p	CLIP-seq
MIRT1006112	hsa-miR-548an	CLIP-seq
MIRT2535806	hsa-miR-563	CLIP-seq
MIRT2681225	hsa-miR-570	CLIP-seq
MIRT2535808	hsa-miR-9	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004560	Function	Alpha-L-fucosidase activity	IBA	21873635
GO:0004560	Function	Alpha-L-fucosidase activity	IDA	19666478
GO:0004560	Function	Alpha-L-fucosidase activity	TAS	11698403
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	TAS
GO:0005737	Component	Cytoplasm	TAS	4074382
GO:0005764	Component	Lysosome	IBA	21873635
GO:0006004	Process	Fucose metabolic process	IBA	21873635
GO:0006004	Process	Fucose metabolic process	IDA	19666478
GO:0006027	Process	Glycosaminoglycan catabolic process	NAS	11698403
GO:0016139	Process	Glycoside catabolic process	IBA	21873635
GO:0016139	Process	Glycoside catabolic process	IDA	19666478
GO:0019377	Process	Glycolipid catabolic process	ISS
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0043202	Component	Lysosomal lumen	TAS
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145

Other IDs

• MIM: 612280
• HGNC: 4006
• e!Ensembl: ENSG00000179163

Protein

• UniProt ID: P04066
• Protein name: Tissue alpha-L-fucosidase (EC 3.2.1.51) (Alpha-L-fucosidase I) (Alpha-L-fucoside fucohydrolase 1) (Alpha-L-fucosidase 1)
• Protein function: Alpha-L-fucosidase is responsible for hydrolyzing the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins.
• PDB: 7PLS, 7PM4
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01120	Alpha_L_fucos	24 → 367	Alpha-L-fucosidase	Domain
  PF16757	Fucosidase_C	378 → 463	Alpha-L-fucosidase C-terminal domain	Domain

• Sequence:

  MRAPGMRSRPAGPALLLLLLFLGAAESVRRAQPPRRYTPDWPSLDSRPLPAWFDEAKFGV
  FIHWGVFSVPAWGSEWFWWHWQGEGRPQYQRFMRDNYPPGFSYADFGPQFTARFFHPEEW
  ADLFQAAGAKYVVLTTKHHEGFTNWPSPVSWNWNSKDVGPHRDLVGELGTALRKRNIRYG
  LYHSLLEWFHPLYLLDKKNGFKTQHFVSAKTMPELYDLVNSYKPDLIWSDGEWECPDTYW
  NSTNFLSWLYNDSPVKDEVVVNDRWGQNCSCHHGGYYNCEDKFKPQSLPDHKWEMCTSID
  KFSWGYRRDMALSDVTEESEIISELVQTVSLGGNYLLNIGPTKDGLIVPIFQERLLAVGK
  WLSINGEAIYASKPWRVQWEKNTTSVWYTSKGSAVYAIFLHWPENGVLNLESPITTSTTK
  ITMLGIQGDLKWSTDPDKGLFISLPQLPPSAVPAEFAWTIKLTGVK

• Sequence length: 466

Pathways

KEGG:

Other glycan degradation
Lysosome

Reactome:

Neutrophil degranulation
Reactions specific to the complex N-glycan synthesis pathway

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Fucosidosis	Fucosidosis Type I, Fucosidosis Type II, Fucosidosis	rs118204450, rs80358195, rs1570679652, rs80358196, rs80358197, rs80358198, rs80358199, rs587779398, rs587779399, rs794727774, rs864309551, rs781230182, rs189315801, rs1556405057, rs1557510081, rs1570692560, rs1639666186
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605
Mental retardation	Severe intellectual disability, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131	1281988
Lipodystrophy	Lipodystrophy	rs553668, rs766817317
Polyneuropathy	Polyneuropathy	rs1597597437
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease name	Disease term	dbSNP ID	References
Angiokeratoma	Angiokeratoma
Anhidrosis	Anhidrosis
Brachycephaly	Brachycephaly
Camptodactyly of fingers	Clinodactyly of the 5th finger
Cerebral atrophy	Cerebral atrophy
Dwarfism	Dwarfism
Frontal bossing	Frontal bossing
Fucosidase deficiency disease	Fucosidase Deficiency Disease		2803224, 8504303, 27604308, 25655951, 8739734, 1281988, 10094192, 7874128, 8401503, 8097260, 9762612, 9039984
Congenital gallbladder anomaly	Gallbladder anomaly congenital
Lipoatrophy	Lipoatrophy
Macroglossia	Macroglossia
Macrostomia	Macrostomia
Pfaundler-hurler syndrome	Pfaundler-Hurler Syndrome
Skin diseases, vascular	Skin Diseases, Vascular
Spastic quadriplegia	Spastic Quadriplegia