GLA (galactosidase alpha)

Gene

• Entrez ID: 2717
• Gene name: Galactosidase alpha
• Gene symbol: GLA
• Synonyms (NCBI Gene): GALA
• Chromosome: X
• Chromosome location: Xq22.1
• Summary: This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galacto

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT039851	hsa-miR-615-3p	CLASH	23622248
MIRT039206	hsa-miR-769-5p	CLASH	23622248
MIRT519448	hsa-miR-6758-5p	PAR-CLIP	23446348
MIRT519447	hsa-miR-6856-5p	PAR-CLIP	23446348
MIRT519445	hsa-miR-6732-5p	PAR-CLIP	23446348
MIRT519446	hsa-miR-4781-3p	PAR-CLIP	23446348
MIRT519444	hsa-miR-4716-5p	PAR-CLIP	23446348
MIRT519443	hsa-miR-193b-5p	PAR-CLIP	23446348
MIRT519442	hsa-miR-197-3p	PAR-CLIP	23446348
MIRT519441	hsa-miR-548s	PAR-CLIP	23446348
MIRT519440	hsa-miR-4701-5p	PAR-CLIP	23446348
MIRT519439	hsa-miR-588	PAR-CLIP	23446348
MIRT519438	hsa-miR-4435	PAR-CLIP	23446348
MIRT519437	hsa-miR-3187-3p	PAR-CLIP	23446348
MIRT519436	hsa-miR-5096	PAR-CLIP	23446348
MIRT519448	hsa-miR-6758-5p	PAR-CLIP	23446348
MIRT519447	hsa-miR-6856-5p	PAR-CLIP	23446348
MIRT519445	hsa-miR-6732-5p	PAR-CLIP	23446348
MIRT519446	hsa-miR-4781-3p	PAR-CLIP	23446348
MIRT519444	hsa-miR-4716-5p	PAR-CLIP	23446348
MIRT519443	hsa-miR-193b-5p	PAR-CLIP	23446348
MIRT519442	hsa-miR-197-3p	PAR-CLIP	23446348
MIRT519441	hsa-miR-548s	PAR-CLIP	23446348
MIRT519440	hsa-miR-4701-5p	PAR-CLIP	23446348
MIRT519439	hsa-miR-588	PAR-CLIP	23446348
MIRT519438	hsa-miR-4435	PAR-CLIP	23446348
MIRT519437	hsa-miR-3187-3p	PAR-CLIP	23446348
MIRT519436	hsa-miR-5096	PAR-CLIP	23446348

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IDA	39940
GO:0004553	Function	Hydrolase activity, hydrolyzing O-glycosyl compounds	IEA
GO:0004557	Function	Alpha-galactosidase activity	IBA
GO:0004557	Function	Alpha-galactosidase activity	IDA	39940, 8804427, 27211852
GO:0004557	Function	Alpha-galactosidase activity	IEA
GO:0004557	Function	Alpha-galactosidase activity	IMP	10838196, 16372133
GO:0005102	Function	Signaling receptor binding	IDA	1332979
GO:0005515	Function	Protein binding	IPI	1332979, 6313412, 21949853, 33961781
GO:0005576	Component	Extracellular region	IDA	3029062
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	IMP	1332979
GO:0005576	Component	Extracellular region	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IMP	1332979
GO:0005764	Component	Lysosome	IEA
GO:0005764	Component	Lysosome	IMP	1332979
GO:0005764	Component	Lysosome	TAS	3029062
GO:0005794	Component	Golgi apparatus	IMP	1332979
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0009311	Process	Oligosaccharide metabolic process	IBA
GO:0009311	Process	Oligosaccharide metabolic process	IDA	39940
GO:0016020	Component	Membrane	IEA
GO:0016139	Process	Glycoside catabolic process	IBA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016787	Function	Hydrolase activity	TAS	7911050
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0042803	Function	Protein homodimerization activity	IDA	6256390
GO:0043202	Component	Lysosomal lumen	TAS
GO:0045019	Process	Negative regulation of nitric oxide biosynthetic process	ISS
GO:0046477	Process	Glycosylceramide catabolic process	ISS
GO:0046479	Process	Glycosphingolipid catabolic process	IDA	8804427
GO:0046479	Process	Glycosphingolipid catabolic process	IEA
GO:0046479	Process	Glycosphingolipid catabolic process	IMP	10838196
GO:0046479	Process	Glycosphingolipid catabolic process	TAS	2160973
GO:0051001	Process	Negative regulation of nitric-oxide synthase activity	ISS
GO:0070062	Component	Extracellular exosome	HDA	23533145

Other IDs

• MIM: 300644
• HGNC: 4296
• e!Ensembl: ENSG00000102393

Protein

• UniProt ID: P06280
• Protein name: Alpha-galactosidase A (EC 3.2.1.22) (Alpha-D-galactosidase A) (Alpha-D-galactoside galactohydrolase) (Galactosylgalactosylglucosylceramidase GLA) (Melibiase) (Agalsidase)
• Protein function: Catalyzes the hydrolysis of glycosphingolipids and participates in their degradation in the lysosome.
• PDB: 1R46, 1R47, 3GXN, 3GXP, 3GXT, 3HG2, 3HG3, 3HG4, 3HG5, 3LX9, 3LXA, 3LXB, 3LXC, 3S5Y, 3S5Z, 3TV8, 4NXS, 6IBK, 6IBM, 6IBR, 6IBT, 8K7D, 8K7E, 8K7F, 8K7G, 8K7H, 8K7I, 8K7J, 8K7K, 8K7L, 9AVS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16499	Melibiase_2	39 → 322	Alpha galactosidase A	Family
  PF17450	Melibiase_2_C	325 → 411	Alpha galactosidase A C-terminal beta sandwich domain	Domain

• Sequence:

  MQLRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEP
  DSCISEKLFMEMAELMVSEGWKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQL
  ANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFADWGVDLLKFDGCYCDSLENL
  ADGYKHMSLALNRTGRSIVYSCEWPLYMWPFQKPNYTEIRQYCNHWRNFADIDDSWKSIK
  SILDWTSFNQERIVDVAGPGGWNDPDMLVIGNFGLSWNQQVTQMALWAIMAAPLFMSNDL
  RHISPQAKALLQDKDVIAINQDPLGKQGYQLRQGDNFEVWERPLSGLAWAVAMINRQEIG
  GPRSYTIAVASLGKGVACNPACFITQLLPVKRKLGFYEWTSRLRSHINPTGTVLLQLENT
  MQMSLKDLL

• Sequence length: 429

Pathways

KEGG:

Galactose metabolism
Glycerolipid metabolism
Sphingolipid metabolism
Glycosphingolipid biosynthesis - globo and isoglobo series
Metabolic pathways
Lysosome

Reactome:

Glycosphingolipid metabolism
Neutrophil degranulation

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cardiomyopathy	Likely pathogenic; Pathogenic	rs869312311, rs28935197, rs199473684, rs397515870, rs886039136	RCV001799418 RCV001798000 RCV000769537 RCV000769540 RCV000769542
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs1928323615, rs2147487910, rs2147487830, rs869312429, rs727503949, rs398123224, rs1183869568, rs730880441, rs730880440, rs730880450, rs730880454, rs2520895216, rs869312310, rs2520849107, rs2520852645, rs797044613, rs797044702, rs797044746, rs797044776, rs111422676, rs869312442, rs869312399, rs869312382, rs869312324, rs869312142, rs869312392, rs869312265, rs104894828, rs28935197, rs199473684, rs104894845, rs886039136, rs104894849, rs104894834, rs797044499, rs1555985830, rs869312381, rs397515870, rs1555985010, rs1569304898, rs1569304190, rs797044749, rs869312158, rs1928411447, rs868937910, rs1928161905, rs372966991, rs398123219	RCV006347710 RCV004629626 RCV003303377 RCV002423245 RCV005572276 RCV003298170 RCV002359552 RCV005404286 RCV004992459 RCV002362843 RCV002415689 RCV002344217 RCV002337874 RCV002353597 RCV002420037 RCV005572281 RCV002326971 RCV002372097 RCV005841526 RCV005348076 RCV006342176 RCV005348079 RCV002363038 RCV002345746 RCV002453751 RCV005346018 RCV003375362 RCV000244581 RCV000618059 RCV002362578 RCV006342073 RCV000242631 RCV004992603 RCV002321570 RCV005348157 RCV005338259 RCV000618471 RCV002354187 RCV004992409 RCV002424744 RCV003372841 RCV002372311 RCV004994203 RCV002418513 RCV002436730 RCV002375120 RCV005403757 RCV002362724
Fabry disease	Likely pathogenic; Pathogenic	rs1928194190, rs398123208, rs1928323615, rs2147471863, rs869312408, rs2147472050, rs28935485, rs869312305, rs2147480697, rs2147487910, rs2147472959, rs2147470514, rs2147477659, rs2147477845, rs387906483, rs869312441, rs2147470791, rs2147480438, rs2147480442, rs886041315, rs869312260, rs2147471929, rs2147487148, rs2147471979, rs869312265, rs2147471760, rs2147471207, rs2147477583, rs2147472395, rs2147475916, rs1555987232, rs869312383, rs2147477791, rs2147473301, rs2147471075, rs2147473404, rs2147487622, rs869312311, rs2147480960, rs2147477422, rs2147487830, rs869312344, rs869312429, rs2147475773, rs2147487930, rs2147473470, rs104894846, rs2147487659, rs2147487375, rs869312227, rs886044906, rs2147473129, rs2147487313, rs1057524557, rs2147480502, rs869312400, rs869312386, rs570042882, rs727503072, rs727503949, rs797044497, rs797044498, rs797044499, rs797044500, rs2520943549, rs2520913405, rs727504348, rs727504773, rs398123224, rs727505292, rs2520913256, rs2520912945, rs2520912584, rs730880442, rs730880441, rs730880453, rs730880440, rs730880439, rs730880452, rs730880451, rs730880450, rs730880449, rs730880447, rs730880444, rs730880443, rs730880454, rs730880455, rs2520895216, rs869312310, rs2520897937, rs28935492, rs1421866281, rs2520911966, rs398123203, rs797044613, rs797044669, rs797044702, rs727504350, rs797044727, rs797044746, rs797044747, rs797044748, rs797044768, rs104894832, rs797044774, rs797044775, rs797044776, rs797044777, rs2520852439, rs2520944908, rs2520864097, rs2520887287, rs869312163, rs869312160, rs869312158, rs28935488, rs869312154, rs104894840, rs869312151, rs869312149, rs869312148, rs869312146, rs869312142, rs869312141, rs869312140, rs869312139, rs869312138, rs869312137, rs869312136, rs869312135, rs869312134, rs868966337, rs869312250, rs869312248, rs869312247, rs112341092, rs869312244, rs869312241, rs869312240, rs782449839, rs869312237, rs869312236, rs869312235, rs869312234, rs869312233, rs113993943, rs869312230, rs869312229, rs869312225, rs111422676, rs782509013, rs782598150, rs869312224, rs869312223, rs869312220, rs869312219, rs869312216, rs869312215, rs28935493, rs869312214, rs869312213, rs869312204, rs869312203, rs869312458, rs869312456, rs398123226, rs869312451, rs869312455, rs869312454, rs869312452, rs869312450, rs869312449, rs869312446, rs869312445, rs104894828, rs869312442, rs869312440, rs782298737, rs869312439, rs869312436, rs869312433, rs869312432, rs869312431, rs869312430, rs869312426, rs869312427, rs868993843, rs868923658, rs869312407, rs869312406, rs190347120, rs869312404, rs869312403, rs869312402, rs869312401, rs869312399, rs869312398, rs869312396, rs869312395, rs869312393, rs869312391, rs869312389, rs869312388, rs869312382, rs869312381, rs869312380, rs869312377, rs782544621, rs869312374, rs869312353, rs869312350, rs869312349, rs869312347, rs869312346, rs111972736, rs869312342, rs869312340, rs398123212, rs869312320, rs869312324, rs869312318, rs869312317, rs869312315, rs869312312, rs869312307, rs113419388, rs869312306, rs869312301, rs869312298, rs869312287, rs104894834, rs869312276, rs869312252, rs869312273, rs869312272, rs113173389, rs869312270, rs869312269, rs869312268, rs869312264, rs869312261, rs869312259, rs869312258, rs869312256, rs869312255, rs869312254, rs869312226, rs869312448, rs869312392, rs869312390, rs869312316, rs869312304, rs869312303, rs869312283, rs869312278, rs869312313, rs869025435, rs876661347, rs2520887376, rs2520943698, rs2520850221, rs2520869335, rs878853698, rs879253955, rs28935494, rs879253990, rs879254022, rs104894827, rs104894829, rs104894830, rs104894831, rs1603038103, rs104894835, rs104894836, rs28935195, rs28935196, rs104894838, rs28935197, rs104894841, rs28935486, rs28935487, rs104894839, rs28935489, rs28935491, rs104894842, rs104894843, rs104894844, rs1603047806, rs1603038220, rs1603037764, rs1928137855, rs1603037323, rs104894847, rs1057519609, rs104894848, rs104894849, rs199473684, rs104894845, rs104894851, rs104894852, rs28935495, rs886039136, rs886044766, rs886044829, rs886044843, rs886044845, rs886044860, rs886044879, rs1555984776, rs398123206, rs2520851123, rs886044909, rs2520864961, rs201819574, rs2520859612, rs2520849314, rs2520887188, rs2520886754, rs2520850153, rs2520851203, rs2520861972, rs2520865089, rs2520895194, rs2520895683, rs2520913284, rs2520943061, rs2520862276, rs2520887463, rs2520850302, rs886044878, rs2520864190, rs782197072, rs1057516429, rs1057521047, rs1060500747, rs869312246, rs1064796601, rs1064794205, rs1555984717, rs1555985827, rs1555985002, rs1555984840, rs1555985830, rs1555987175, rs1555985829, rs1555987162, rs1555985855, rs1555985175, rs1555987215, rs397515870, rs1555985010, rs1555985091, rs1555985200, rs1555984869, rs398123221, rs1569306168, rs1569306036, rs1569306108, rs1569304867, rs1569304898, rs1569303815, rs1569302985, rs1569306022, rs1569303213, rs1569302982, rs398123216, rs1183869568, rs1569302887, rs111812846, rs1569303030, rs1569303218, rs1569303843, rs1569304190, rs1569304221, rs1569304851, rs1569304886, rs398123199, rs1569306181, rs797044749, rs181562693, rs1603041916, rs1603037717, rs1603038411, rs1555985814, rs1928167952, rs782197638, rs1928411447, rs868937910, rs1928321045, rs1928406808, rs1928595440, rs1928137126, rs1928157897, rs1928161905, rs1928166458, rs869312444, rs1928171557, rs1928189534, rs1555985148, rs1928195468, rs1928279286, rs1928326804, rs1928583820, rs1928326107, rs782085638, rs1928277140, rs1928174707, rs1928199003, rs398123198, rs1928125824, rs12392549, rs1928172876, rs1928196393, rs869312218, rs1928199153, rs1928287177, rs1928582757, rs1928135337, rs1928406948, rs398123197, rs398123201, rs398123205, rs398123207, rs372966991, rs398123210, rs398123211, rs398123215, rs398123217, rs398123219, rs398123220, rs398123222, rs398123223, rs398123225, rs398123228, rs398123229, rs1928168711, rs1928173731, rs1928287649, rs1928326524	RCV001321823 RCV001328356 RCV001341700 RCV001358705 RCV001358704 RCV001374746 RCV001374744 RCV001374743 RCV001374745 RCV001375575 RCV001379079 RCV001383502 RCV001382760 RCV001381526 RCV001388694 RCV001391121 RCV001420851 RCV001420835 RCV001537870 RCV001553582 RCV001563580 RCV005645289 RCV001754536 RCV001754537 RCV005644566 RCV005645298 RCV003509693 RCV002541148 RCV005644602 RCV005644575 RCV002246498 RCV005645301 RCV005644949 RCV002541195 RCV002489830 RCV001789804 RCV005645305 RCV002503288 RCV001815142 RCV005645311 RCV001943235 RCV001990547 RCV002013540 RCV002013573 RCV001939379 RCV001921120 RCV001919968 RCV001960738 RCV001893722 RCV001946593 RCV001956188 RCV001963242 RCV002049433 RCV001941262 RCV001963157 RCV002250019 RCV002250437 RCV002293968 RCV000150748 RCV000153320 RCV005644525 RCV001386713 RCV005644526 RCV001193673 RCV002308607 RCV002306509 RCV000154469 RCV000156088 RCV000823627 RCV000209022 RCV002309455 RCV002310293 RCV002310341 RCV001269207 RCV001807105 RCV000815405 RCV003066348 RCV001193045 RCV001807106 RCV000627818 RCV000781420 RCV005644758 RCV005645026 RCV005644529 RCV002516375 RCV001807107 RCV001192396 RCV003340486 RCV003096472 RCV002471484 RCV003066349 RCV003050638 RCV003066353 RCV003066356 RCV000809963 RCV005645031 RCV001293581 RCV001384489 RCV000176999 RCV005645032 RCV005406898 RCV001036876 RCV001194307 RCV005645033 RCV000780293 RCV001048991 RCV000792067 RCV001249019 RCV000781423 RCV002825652 RCV002833407 RCV002847520 RCV003005073 RCV000209490 RCV000209419 RCV000209595 RCV000209347 RCV000209091 RCV000209382 RCV000208950 RCV000209122 RCV000209822 RCV000209164 RCV000209103 RCV000209492 RCV000209786 RCV000209126 RCV000209059 RCV000209353 RCV000209648 RCV000208990 RCV000209283 RCV000209573 RCV003026559 RCV000011520 RCV005645753 RCV005645037 RCV000587942 RCV005644672 RCV000011504 RCV005644792 RCV005644790 RCV005644669 RCV005644788 RCV005644783 RCV005645731 RCV005645461 RCV005645727 RCV005645725 RCV005644772 RCV001193638 RCV005644650 RCV000398396 RCV002048087 RCV002515537 RCV005645715 RCV005645713 RCV005645036 RCV005644635 RCV005644780 RCV005645702 RCV001388855 RCV005645701 RCV000781425 RCV005644629 RCV001389324 RCV000780297 RCV005645782 RCV005645302 RCV005123601 RCV000780289 RCV005644731 RCV005644826 RCV005645680 RCV003509069 RCV005644774 RCV005256462 RCV005644614 RCV005645655 RCV005645653 RCV001958657 RCV001853290 RCV005645454 RCV005645641 RCV003066351 RCV005645638 RCV005409458 RCV000703679 RCV005645614 RCV001226443 RCV005645604 RCV001192398 RCV005645602 RCV000589129 RCV005644718 RCV005644810 RCV005645599 RCV003153189 RCV005645455 RCV000589425 RCV005645297 RCV005645591 RCV005645592 RCV005645040 RCV000780301 RCV005644596 RCV005645586 RCV000593162 RCV000011498 RCV000556577 RCV005644588 RCV005645571 RCV001192397 RCV000780298 RCV005645560 RCV005645555 RCV001293630 RCV001194309 RCV005645538 RCV005645536 RCV005644761 RCV005644715 RCV003509074 RCV005644804 RCV005645524 RCV005644759 RCV005644690 RCV005644572 RCV003041469 RCV000359005 RCV005645011 RCV005645009 RCV004806209 RCV003152770 RCV005645004 RCV001970068 RCV001260334 RCV002503264 RCV001374747 RCV005644990 RCV005644980 RCV005644972 RCV005644969 RCV005644968 RCV005644967 RCV005644668 RCV005644747 RCV005644546 RCV005644943 RCV005644796 RCV000011465 RCV005644795 RCV000991314 RCV005645898 RCV005644532 RCV005644743 RCV005644924 RCV001224303 RCV005199155 RCV001220686 RCV001388247 RCV005646753 RCV005644732 RCV003779245 RCV003509076 RCV001174582 RCV001194305 RCV001379650 RCV005644869 RCV001193644 RCV005645761 RCV001063224 RCV002034593 RCV001293631 RCV005645882 RCV005644725 RCV000530926 RCV005644892 RCV003041471 RCV005644868 RCV005644724 RCV003041472 RCV001293580 RCV003509694 RCV000208140 RCV000208327 RCV000806628 RCV005645452 RCV005645450 RCV005645453 RCV003153125 RCV000226316 RCV001381527 RCV005090190 RCV005645051 RCV000692369 RCV000011459 RCV000011462 RCV000011463 RCV001185735 RCV000011466 RCV000011467 RCV005644479 RCV000011469 RCV000011471 RCV000011472 RCV000011474 RCV000011475 RCV000011476 RCV000011477 RCV000011482 RCV000011478 RCV000011479 RCV000011480 RCV000011481 RCV000011483 RCV000011484 RCV000011487 RCV000011488 RCV000011489 RCV000011490 RCV000011491 RCV000011492 RCV000011493 RCV000011485 RCV000011496 RCV000011499 RCV000011500 RCV000011501 RCV000011502 RCV005644480 RCV005644481 RCV000011512 RCV000011513 RCV000011514 RCV000154318 RCV000011516 RCV000011517 RCV000011518 RCV000011521 RCV001807204 RCV001175033 RCV000286285 RCV005431586 RCV000362601 RCV000781431 RCV005645066 RCV000984268 RCV000324526 RCV003317714 RCV000763197 RCV005645068 RCV003335936 RCV001388197 RCV005645474 RCV005645475 RCV003484584 RCV003484242 RCV005645492 RCV005645494 RCV005645495 RCV005645496 RCV003509890 RCV003510691 RCV003509070 RCV003509071 RCV003509073 RCV003509075 RCV003509440 RCV003509976 RCV003622772 RCV003623002 RCV003622157 RCV004015430 RCV004549030 RCV004584265 RCV004585219 RCV004801956 RCV000411879 RCV001807250 RCV000780291 RCV000475829 RCV005645092 RCV001807259 RCV002248700 RCV001175448 RCV000542303 RCV000587754 RCV000586514 RCV000589205 RCV000588224 RCV000586866 RCV000586203 RCV000589918 RCV000589535 RCV001860148 RCV003509574 RCV003621552 RCV001854029 RCV003509575 RCV005645110 RCV002531083 RCV005645116 RCV000627820 RCV000153322 RCV000627821 RCV000627822 RCV000627819 RCV001244524 RCV002477519 RCV000691947 RCV000685810 RCV000709851 RCV003509593 RCV003387920 RCV005645164 RCV000796776 RCV001855746 RCV005645166 RCV005645167 RCV002535181 RCV001222307 RCV005645169 RCV000781421 RCV001807342 RCV003479214 RCV000780294 RCV000781426 RCV000781424 RCV000781428 RCV001039833 RCV000781430 RCV000780295 RCV000781429 RCV000781422 RCV000781427 RCV000780299 RCV000817070 RCV000794754 RCV000820056 RCV005645189 RCV005645188 RCV000990920 RCV001047256 RCV001041450 RCV001041976 RCV001060432 RCV001174740 RCV001175034 RCV001175015 RCV001177744 RCV001193043 RCV001193674 RCV001192371 RCV001193046 RCV001192392 RCV001193068 RCV001192393 RCV001194304 RCV001192394 RCV001192395 RCV001193071 RCV001193641 RCV001193640 RCV001194306 RCV001193639 RCV001193069 RCV001201250 RCV001217560 RCV001206271 RCV001217567 RCV001238670 RCV001236826 RCV001241990 RCV001255564 RCV001260388 RCV001260301 RCV001264506 RCV005645244 RCV001280595 RCV001280594 RCV001280614 RCV001280630 RCV001280904 RCV002543011 RCV001290611 RCV001807016 RCV000078263 RCV000078266 RCV005644507 RCV003509487 RCV005644509 RCV002498376 RCV001807017 RCV001854374 RCV005089536 RCV005644510 RCV005644511 RCV005644512 RCV002498377 RCV005644514 RCV000822976 RCV005644515 RCV001193671 RCV000780290 RCV005644516 RCV000078300 RCV000781418 RCV001420761 RCV002250557 RCV000078306 RCV001389325 RCV001293628 RCV001293579 RCV001293627 RCV001293629 RCV001293592
Fabry disease, cardiac variant	Likely pathogenic; Pathogenic	rs869312142, rs104894828, rs104894830, rs28935485, rs104894846, rs104894847, rs199473684, rs886044878	RCV001636724 RCV000011461 RCV000011464 RCV000011468 RCV000011510 RCV000011511 RCV000011515 RCV005235760
GLA-related disorder	Likely pathogenic; Pathogenic	rs869312400, rs730880440, rs730880450, rs869312458, rs869312141, rs797044613, rs104894827, rs104894843, rs199473684, rs2520864961, rs104894849, rs398123215	RCV003403751 RCV004731317 RCV004752764 RCV003983408 RCV003417754 RCV003907777 RCV003398483 RCV003398484 RCV004752698 RCV003408715 RCV003410482 RCV003398668
Hypertrophic cardiomyopathy	Likely pathogenic; Pathogenic	rs727504348, rs28935197, rs199473684, rs869312381	RCV000844704 RCV000844705 RCV000844706 RCV001270059
Migalastat response	Likely pathogenic; Pathogenic	rs727505292, rs869312163, rs869312160, rs869312158, rs28935488, rs869312154, rs104894840, rs869312151, rs869312149, rs869312148, rs869312146, rs869312142, rs869312141, rs869312140, rs869312139, rs869312138, rs869312137, rs869312136, rs869312135, rs869312134	RCV000209285 RCV000209758 RCV000209806 RCV000209037 RCV000209621 RCV000209357 RCV000209767 RCV000209334 RCV000209507 RCV000209142 RCV000209436 RCV000209370 RCV000208936 RCV000209224 RCV000209399 RCV000209447 RCV000209629 RCV000208963 RCV000209255 RCV000209546 RCV000208891
Nephrotic syndrome	Pathogenic	rs2147477422	RCV001849885
Nonpapillary renal cell carcinoma	Likely pathogenic; Pathogenic	rs2147475773, rs869312149, rs868966337	RCV005925606 RCV005893612 RCV005926800
Primary familial hypertrophic cardiomyopathy	Pathogenic; Likely pathogenic	rs104894828, rs1603037717, rs1603038411	RCV000845380 RCV000845520 RCV000845515
Thyroid cancer, nonmedullary, 1	Pathogenic; Likely pathogenic	rs869312444, rs868923658	RCV005908931 RCV005908932

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
-	no classification for the single variant	rs2147480453, rs2147478154, rs2147477260	-
Charcot-Marie-Tooth disease	Conflicting classifications of pathogenicity	rs782722577	RCV005625447
Hereditary coproporphyria	Uncertain significance	rs869312378	RCV005860037
Hypertrophic cardiomyopathy 1	Uncertain significance	rs782449839, rs781788693	RCV001256949 RCV001256948
See cases	Uncertain significance	rs782449839	RCV004584372
Steroid-resistant nephrotic syndrome	Uncertain significance	rs869312211	RCV005638464

Associations from Text Mining
Disease Name	Relationship Type	References
Abdominal Pain	Associate	39528318
Acrofacial dysostosis Nager type	Associate	32571412
Actin Accumulation Myopathy	Associate	26334996
Albuminuria	Associate	31519519
Arterial Occlusive Diseases	Associate	38295534
Atrial Fibrillation	Associate	31519519, 40557493
Atrioventricular Block	Associate	18154965, 23608164, 31519519, 31949022
Brain Ischemia	Associate	34905550
Calcinosis	Associate	16505034
Carcinoma Hepatocellular	Associate	24806207
Cardiomyopathies	Associate	18154965, 27888626, 28576916, 30965672, 31949022, 35544052, 36927868, 40557493
Cardiomyopathy Familial Hypertrophic 1	Associate	20498269
Cardiomyopathy Hypertrophic	Associate	15353880, 20498269, 27160240, 27483260, 27554049, 27600940, 28496025, 28771489, 30775854, 31291414, 35578305, 36927868, 37466024, 40495216
Cardiomyopathy Hypertrophic Familial	Associate	27160240
Cardiovascular Diseases	Associate	33673551
Cerebral Hemorrhage	Associate	34905550
Cerebral Infarction	Associate	37593415, 38295534
Cerebral Small Vessel Diseases	Associate	31719132
Cerebrovascular Disorders	Associate	20360539, 22437327, 25468652
Chorea	Associate	36927868
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	39202460
Corneal Injuries	Associate	25781336, 27156739, 34354036
Death Sudden	Associate	34704396, 35623077
Embolism	Associate	38295534
Fabry Disease	Inhibit	10652021, 12911529, 15353880, 16531566, 17301227, 18707907, 19265719, 20954982, 23305247, 26837682, 27832731, 27899143, 28166746, 28592315, 30038331, 30261035, 30413389, 30803893, 3082958, 31243236, 32397962, 34076843, 34429585, 34440358, 38429952
Fabry Disease	Associate	10666480, 12185177, 12428061, 12911529, 16148726, 16595074, 16773563, 16778596, 17391432, 17532296, 17697536, 18154965, 18698230, 18954370, 19037253, 19621417, 20007919, 20122163, 20360539, 20498269, 20526001, 21333496, 2152885, 21598360, 2160973, 2171331, 21738355, 21949853, 22008442, 22260214, 22437327, 22558451, 22563919, 22682330, 22767366, 23118528, 23176611, 23307880, 23393592, 23474038, 23545674, 23608164, 23691056, 23826564, 23867994, 23935525, 24236025, 24386359, 24398019, 24661928, 24830310, 25386848, 25409744, 25423912, 25468652, 25781336, 25977923, 26044846, 26083343, 26179544, 26269958, 26334996, 26384850, 26424312, 26602202, 26652600, 26993266, 27049364, 27059467, 27142856, 27156739, 27160240, 27431810, 27554049, 27560961, 27585509, 27593536, 27657681, 27681560, 27773586, 27776503, 27832731, 27888626, 27904112, 27983599, 28430823, 28496025, 28499424, 28576916, 28646478, 28672034, 28723748, 28871487, 28988177, 29044343, 29369793, 29460476, 29476735, 29543226, 29621274, 29631605, 29674318, 29688992, 29772700, 29794742, 29801713, 29927462, 29950951, 29974530, 2997789, 29982630, 30099469, 30130681, 3029062, 30333391, 30380558, 30464119, 30477121, 30587147, 30677769, 30804731, 30965672, 30990584, 31036492, 31067829, 31151481, 31243236, 31291414, 31308318, 31378672, 31393666, 31446751, 31449323, 31491876, 31519519, 31566927, 31594250, 31613176, 31649303, 31889231, 31899485, 31931840, 31949022, 31996269, 32011328, 32023956, 32087678, 32161151, 32281532, 32388441, 32442237, 32583479, 32590976, 32640076, 32641113, 32719972, 32789421, 32797665, 32806627, 32843101, 32854306, 32902816, 32924720, 32948848, 32987398, 32991443, 33003611, 33016649, 33022387, 33040545, 33109218, 33119553, 33360824, 33495303, 33545641, 33633114, 33649041, 33673551, 33838691, 33994139, 34118938, 34199132, 34205365, 34282462, 34287477, 34354036, 34365103, 34654880, 34704396, 34745562, 34768768, 34785703, 34803097, 34885938, 34905550, 34906154, 34907716, 34917096, 34944500, 35212703, 35246967, 35283375, 35325818, 35537774, 35578305, 35623077, 35680278, 35725559, 35764328, 35831104, 35971858, 35977816, 36073247, 36087038, 36087505, 36140787, 36205882, 36271470, 36292965, 36383556, 36411388, 36499585, 36516658, 36517364, 36543533, 36564230, 36624527, 36814269, 36917862, 36927868, 37070916, 37097439, 37254000, 37309820, 37430370, 37593415, 37607539, 37635225, 37715354, 37761944, 37774431, 37914990, 38002959, 38278716, 38295534, 38304433, 38308295, 38395389, 38418159, 38552356, 39182239, 39182416, 39202460, 39336803, 39337589, 39348817, 39375654, 39390597, 39490876, 39528318, 39609713, 39613053, 39701018, 39864340, 40198168, 40215726, 40222082, 40233852, 40362636, 40420005, 40459129, 40495216, 40524234, 40548538, 40557493, 40565264, 40640933, 7504405, 8411052, 8863162, 8878432, 9100224
Fabry Disease Cardiac Variant	Associate	21333496, 22008442, 26869469, 27160240, 36087038
Familial Mediterranean Fever	Associate	25977923
Fanconi Syndrome	Associate	34906154
Fever	Associate	32797665, 39528318
Fibrosis	Associate	31291414, 37097439
Gastrointestinal Diseases	Associate	38429952
Genetic Diseases Inborn	Associate	23393592
Glaucoma	Associate	16505034
Glomerulonephritis IGA	Associate	37065697, 37914990
Glomerulosclerosis Focal Segmental	Associate	32997080
Glycosuria Renal	Associate	27776503, 31566927, 35725559
Headache	Associate	34354036, 40548538
Hearing Loss	Associate	38295534
Hearing Loss Bilateral	Associate	26424312
Hearing Loss Sensorineural	Associate	31519519
Heart Block	Associate	31519519
Heart Diseases	Associate	19621417, 2171331, 23608164, 26070511, 26384850, 27156739, 27554049, 27593536, 30333391, 31067829, 37097439
Heart Failure	Associate	34704396
Heat Stroke	Associate	24398019
Hypertrophy Left Ventricular	Associate	12911529, 22008442, 24661928, 27554049, 27888626, 28496025, 29621274, 30587147, 31519519, 32011328, 36517364
Hypomagnesemia 5 Renal with Ocular Involvement	Associate	12428061, 37097439, 37774431
Immunologic Deficiency Syndromes	Inhibit	40557493
Insulin Like Growth Factor I Resistance To	Associate	25423912
Ischemic Attack Transient	Associate	22682330, 25423912, 27142856, 29621274, 34905550, 38295534
Ischemic Stroke	Associate	20007919, 25423912
Keutel syndrome	Associate	11405537
Kidney Diseases	Associate	18154965, 23867994, 29950951, 31243236, 31566927, 33994139
Kidney Failure Chronic	Associate	23867994, 24398019, 26179544, 28576916, 30099469, 30587147, 31308318, 31566927, 33649041, 33994139, 34354036, 35537774, 36517364
Leprosy Tuberculoid	Associate	23393592
Leukoencephalopathies	Associate	23393592, 25423912, 29621274, 36517364
Lysosomal Storage Diseases	Associate	17391432, 26044846, 30477121, 31378672, 34944500, 36383556
Metabolism Inborn Errors	Associate	18154965
Multiple Organ Failure	Associate	27600940
Multiple Sclerosis	Associate	25977923
Myocardial Infarction	Associate	35623077
Neoplasms	Associate	19420766, 9054450
Neoplasms	Inhibit	24806207
Nephrotic Syndrome	Associate	32924720, 34354036
Neuralgia	Associate	25423912, 34354036, 36927868
Neurologic Manifestations	Associate	25423912
Optic Neuropathy Ischemic	Associate	37774431
Ovarian Neoplasms	Associate	29910195
Pain	Associate	30803893, 34906154, 39528318
Paresthesia	Associate	34704396, 37097439, 38295534
Parkinson Disease	Associate	29369793, 31594250, 36901867
Parkinson Disease Secondary	Associate	26424312
Pericardial Effusion	Associate	35623077
Proteinuria	Inhibit	26384850
Proteinuria	Associate	26384850, 29621274, 31291414, 34354036, 35725559
Proteostasis Deficiencies	Associate	17391432
Pseudoxanthoma Elasticum	Associate	17299431
Pulmonary Disease Chronic Obstructive	Associate	20498269
Renal Insufficiency	Associate	12428061, 23867994
Renal Insufficiency Chronic	Associate	27431810, 31519519, 34282462
Sarcoma Kaposi	Associate	39348817
Seizures	Associate	34354036
Sick Sinus Syndrome	Associate	31949022
Signs and Symptoms Digestive	Associate	36927868
Small Fiber Neuropathy	Associate	25423912
Stroke	Associate	20007919, 25423912, 27142856, 29621274, 32106772, 37097439, 38002959
Stroke Lacunar	Associate	34905550
Tachycardia Ventricular	Associate	20498269, 31291414, 31519519
Teratoma	Associate	34365103, 36917862
Tinnitus	Associate	40548538
Vascular Diseases	Associate	23393592
Ventricular Dysfunction Left	Associate	32987398, 35623077
Vertigo	Associate	40548538