NAGA (alpha-N-acetylgalactosaminidase)

Gene

• Entrez ID: 4668
• Gene name: Alpha-N-acetylgalactosaminidase
• Gene symbol: NAGA
• Synonyms (NCBI Gene): D22S674, GALB
• Chromosome: 22
• Chromosome location: 22q13.2
• Summary: NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified as the cause of Schindler disease types I and II (type II also known as Ka

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs73167107	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs121434529	C>T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121434530	G>A	Pathogenic	Coding sequence variant, missense variant
rs121434533	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs140673721	C>T	Likely-pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016604	hsa-miR-193b-3p	Microarray	20304954
MIRT043313	hsa-miR-331-3p	CLASH	23622248
MIRT1172991	hsa-miR-150	CLIP-seq
MIRT1172992	hsa-miR-2110	CLIP-seq
MIRT1172993	hsa-miR-3120-3p	CLIP-seq
MIRT1172994	hsa-miR-3150a-3p	CLIP-seq
MIRT1172995	hsa-miR-3153	CLIP-seq
MIRT1172996	hsa-miR-3155	CLIP-seq
MIRT1172997	hsa-miR-3155b	CLIP-seq
MIRT1172998	hsa-miR-3175	CLIP-seq
MIRT1172999	hsa-miR-3176	CLIP-seq
MIRT1173000	hsa-miR-3617	CLIP-seq
MIRT1173001	hsa-miR-3691-3p	CLIP-seq
MIRT1173002	hsa-miR-3913-3p	CLIP-seq
MIRT1173003	hsa-miR-3919	CLIP-seq
MIRT1173004	hsa-miR-3922-3p	CLIP-seq
MIRT1173005	hsa-miR-3925-5p	CLIP-seq
MIRT1173006	hsa-miR-3974	CLIP-seq
MIRT1173007	hsa-miR-3975	CLIP-seq
MIRT1173008	hsa-miR-4257	CLIP-seq
MIRT1173009	hsa-miR-4269	CLIP-seq
MIRT1173010	hsa-miR-4271	CLIP-seq
MIRT1173011	hsa-miR-4286	CLIP-seq
MIRT1173012	hsa-miR-4468	CLIP-seq
MIRT1173013	hsa-miR-4514	CLIP-seq
MIRT1173014	hsa-miR-4645-5p	CLIP-seq
MIRT1173015	hsa-miR-4661-3p	CLIP-seq
MIRT1173016	hsa-miR-4667-5p	CLIP-seq
MIRT1173017	hsa-miR-4673	CLIP-seq
MIRT1173018	hsa-miR-4692	CLIP-seq
MIRT1173019	hsa-miR-4700-5p	CLIP-seq
MIRT1173020	hsa-miR-4705	CLIP-seq
MIRT1173021	hsa-miR-4709-3p	CLIP-seq
MIRT1173022	hsa-miR-4725-3p	CLIP-seq
MIRT1173023	hsa-miR-4742-5p	CLIP-seq
MIRT1173024	hsa-miR-4789-5p	CLIP-seq
MIRT1173025	hsa-miR-484	CLIP-seq
MIRT1173026	hsa-miR-548u	CLIP-seq
MIRT1173027	hsa-miR-589	CLIP-seq
MIRT1173028	hsa-miR-641	CLIP-seq
MIRT1173029	hsa-miR-939	CLIP-seq
MIRT2050122	hsa-miR-1343	CLIP-seq
MIRT2050123	hsa-miR-342-5p	CLIP-seq
MIRT2050124	hsa-miR-4651	CLIP-seq
MIRT2050125	hsa-miR-4664-5p	CLIP-seq
MIRT1173020	hsa-miR-4705	CLIP-seq
MIRT2050126	hsa-miR-608	CLIP-seq
MIRT2279018	hsa-miR-1225-5p	CLIP-seq
MIRT2279019	hsa-miR-1272	CLIP-seq
MIRT2279020	hsa-miR-1273d	CLIP-seq
MIRT2279021	hsa-miR-1322	CLIP-seq
MIRT2050122	hsa-miR-1343	CLIP-seq
MIRT2279022	hsa-miR-1976	CLIP-seq
MIRT2279023	hsa-miR-25	CLIP-seq
MIRT2279024	hsa-miR-3154	CLIP-seq
MIRT1172999	hsa-miR-3176	CLIP-seq
MIRT2279025	hsa-miR-3182	CLIP-seq
MIRT2279026	hsa-miR-3192	CLIP-seq
MIRT2279027	hsa-miR-32	CLIP-seq
MIRT2279028	hsa-miR-3622b-5p	CLIP-seq
MIRT2279029	hsa-miR-363	CLIP-seq
MIRT2279030	hsa-miR-3663-5p	CLIP-seq
MIRT2279031	hsa-miR-3664-3p	CLIP-seq
MIRT2279032	hsa-miR-367	CLIP-seq
MIRT2279033	hsa-miR-3670	CLIP-seq
MIRT2279034	hsa-miR-3690	CLIP-seq
MIRT2279035	hsa-miR-3907	CLIP-seq
MIRT1173004	hsa-miR-3922-3p	CLIP-seq
MIRT2279036	hsa-miR-4254	CLIP-seq
MIRT2279037	hsa-miR-4268	CLIP-seq
MIRT2279038	hsa-miR-4325	CLIP-seq
MIRT2279039	hsa-miR-4433	CLIP-seq
MIRT2279040	hsa-miR-4448	CLIP-seq
MIRT2279041	hsa-miR-4459	CLIP-seq
MIRT2279042	hsa-miR-4633-3p	CLIP-seq
MIRT2279043	hsa-miR-4695-5p	CLIP-seq
MIRT2279044	hsa-miR-4768-3p	CLIP-seq
MIRT2279045	hsa-miR-759	CLIP-seq
MIRT2279046	hsa-miR-92a	CLIP-seq
MIRT2279047	hsa-miR-92b	CLIP-seq
MIRT2454821	hsa-miR-205	CLIP-seq
MIRT2454822	hsa-miR-3136-5p	CLIP-seq
MIRT2454823	hsa-miR-4439	CLIP-seq
MIRT2454824	hsa-miR-943	CLIP-seq
MIRT2577212	hsa-miR-1909	CLIP-seq
MIRT2577213	hsa-miR-208a	CLIP-seq
MIRT2577214	hsa-miR-208b	CLIP-seq
MIRT2577215	hsa-miR-214	CLIP-seq
MIRT2577216	hsa-miR-3126-5p	CLIP-seq
MIRT2577217	hsa-miR-3138	CLIP-seq
MIRT2577218	hsa-miR-339-5p	CLIP-seq
MIRT1173000	hsa-miR-3617	CLIP-seq
MIRT2577219	hsa-miR-3619-5p	CLIP-seq
MIRT2577220	hsa-miR-3658	CLIP-seq
MIRT2279034	hsa-miR-3690	CLIP-seq
MIRT2279036	hsa-miR-4254	CLIP-seq
MIRT1173009	hsa-miR-4269	CLIP-seq
MIRT2577221	hsa-miR-4464	CLIP-seq
MIRT2577222	hsa-miR-4476	CLIP-seq
MIRT2577223	hsa-miR-4520a-3p	CLIP-seq
MIRT2577224	hsa-miR-4638-3p	CLIP-seq
MIRT1173014	hsa-miR-4645-5p	CLIP-seq
MIRT2577225	hsa-miR-4660	CLIP-seq
MIRT1173017	hsa-miR-4673	CLIP-seq
MIRT2577226	hsa-miR-4688	CLIP-seq
MIRT2577227	hsa-miR-4748	CLIP-seq
MIRT2577228	hsa-miR-4752	CLIP-seq
MIRT2577229	hsa-miR-4800-5p	CLIP-seq
MIRT2577230	hsa-miR-486-3p	CLIP-seq
MIRT2577231	hsa-miR-499-5p	CLIP-seq
MIRT2577232	hsa-miR-590-3p	CLIP-seq
MIRT1173028	hsa-miR-641	CLIP-seq
MIRT2577233	hsa-miR-761	CLIP-seq
MIRT2685738	hsa-let-7a	CLIP-seq
MIRT2685739	hsa-let-7b	CLIP-seq
MIRT2685740	hsa-let-7c	CLIP-seq
MIRT2685741	hsa-let-7d	CLIP-seq
MIRT2685742	hsa-let-7e	CLIP-seq
MIRT2685743	hsa-let-7f	CLIP-seq
MIRT2685744	hsa-let-7g	CLIP-seq
MIRT2685745	hsa-let-7i	CLIP-seq
MIRT2685746	hsa-miR-1255a	CLIP-seq
MIRT2685747	hsa-miR-1255b	CLIP-seq
MIRT2577212	hsa-miR-1909	CLIP-seq
MIRT2685748	hsa-miR-202	CLIP-seq
MIRT2577215	hsa-miR-214	CLIP-seq
MIRT2577216	hsa-miR-3126-5p	CLIP-seq
MIRT2685749	hsa-miR-3152-5p	CLIP-seq
MIRT2685750	hsa-miR-3177-3p	CLIP-seq
MIRT2685751	hsa-miR-3184	CLIP-seq
MIRT2577218	hsa-miR-339-5p	CLIP-seq
MIRT2577219	hsa-miR-3619-5p	CLIP-seq
MIRT2685752	hsa-miR-3667-5p	CLIP-seq
MIRT2685753	hsa-miR-3672	CLIP-seq
MIRT2685754	hsa-miR-3714	CLIP-seq
MIRT2685755	hsa-miR-423-5p	CLIP-seq
MIRT1173009	hsa-miR-4269	CLIP-seq
MIRT2685756	hsa-miR-4458	CLIP-seq
MIRT2577222	hsa-miR-4476	CLIP-seq
MIRT2685757	hsa-miR-4500	CLIP-seq
MIRT1173014	hsa-miR-4645-5p	CLIP-seq
MIRT2685758	hsa-miR-4650-5p	CLIP-seq
MIRT2577225	hsa-miR-4660	CLIP-seq
MIRT1173017	hsa-miR-4673	CLIP-seq
MIRT2577226	hsa-miR-4688	CLIP-seq
MIRT2685759	hsa-miR-4774-3p	CLIP-seq
MIRT2577230	hsa-miR-486-3p	CLIP-seq
MIRT2685760	hsa-miR-501-3p	CLIP-seq
MIRT2685761	hsa-miR-502-3p	CLIP-seq
MIRT2685762	hsa-miR-548an	CLIP-seq
MIRT2685763	hsa-miR-661	CLIP-seq
MIRT2577233	hsa-miR-761	CLIP-seq
MIRT2685764	hsa-miR-98	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004557	Function	Alpha-galactosidase activity	IBA	21873635
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005764	Component	Lysosome	IEA
GO:0008456	Function	Alpha-N-acetylgalactosaminidase activity	IDA	19683538
GO:0009311	Process	Oligosaccharide metabolic process	IBA	21873635
GO:0016052	Process	Carbohydrate catabolic process	IDA	19683538
GO:0016139	Process	Glycoside catabolic process	IBA	21873635
GO:0019377	Process	Glycolipid catabolic process	IMP	9741689
GO:0042803	Function	Protein homodimerization activity	IPI	19683538
GO:0046477	Process	Glycosylceramide catabolic process	IBA	21873635
GO:0070062	Component	Extracellular exosome	HDA	23533145

Other IDs

• MIM: 104170
• HGNC: 7631
• e!Ensembl: ENSG00000198951

Protein

• UniProt ID: P17050
• Protein name: Alpha-N-acetylgalactosaminidase (EC 3.2.1.49) (Alpha-galactosidase B)
• Protein function: Removes terminal alpha-N-acetylgalactosamine residues from glycolipids and glycopeptides. Required for the breakdown of glycolipids.
• PDB: 3H53, 3H54, 3H55, 3IGU, 4DO4, 4DO5, 4DO6
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16499	Melibiase_2	25 → 308	Alpha galactosidase A	Family
  PF17450	Melibiase_2_C	311 → 394	Alpha galactosidase A C-terminal beta sandwich domain	Domain

• Sequence:

  MLLKTVLLLGHVAQVLMLDNGLLQTPPMGWLAWERFRCNINCDEDPKNCISEQLFMEMAD
  RMAQDGWRDMGYTYLNIDDCWIGGRDASGRLMPDPKRFPHGIPFLADYVHSLGLKLGIYA
  DMGNFTCMGYPGTTLDKVVQDAQTFAEWKVDMLKLDGCFSTPEERAQGYPKMAAALNATG
  RPIAFSCSWPAYEGGLPPRVNYSLLADICNLWRNYDDIQDSWWSVLSILNWFVEHQDILQ
  PVAGPGHWNDPDMLLIGNFGLSLEQSRAQMALWTVLAAPLLMSTDLRTISAQNMDILQNP
  LMIKINQDPLGIQGRRIHKEKSLIEVYMRPLSNKASALVFFSCRTDMPYRYHSSLGQLNF
  TGSVIYEAQDVYSGDIISGLRDETNFTVIINPSGVVMWYLYPIKNLEMSQQ

• Sequence length: 411

Pathways

KEGG:

Glycosphingolipid biosynthesis - globo and isoglobo series
Metabolic pathways
Lysosome

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Alpha-n-acetylgalactosaminidase deficiency	Schindler Disease, Type II, Schindler Disease, Type I, Schindler Disease, Type III, Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 3	rs121434530, rs121434531, rs779423223, rs140673721	15136691, 2243144, 8071745, 27604308, 19683538, 11251574, 8040340, 7707696, 8782044, 1131374, 11313741
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
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
Developmental regression	Developmental regression	rs1224421127
Fabry disease	Fabry Disease	rs104894827, rs104894828, rs104894829, rs104894830, rs104894831, rs1603038103, rs104894832, rs104894835, rs104894836, rs28935195, rs28935196, rs104894838, rs28935197, rs28935488, rs104894840, rs104894841, rs28935486, rs28935487, rs104894839, rs28935489, rs28935491, rs28935492, rs104894842, rs28935493, rs104894843, rs28935494, rs104894844, rs387906483, rs1603047806, rs1603038220, rs1603037764, rs1928137855, rs1603037323, rs1057519609, rs104894848, rs104894849, rs199473684, rs104894845, rs104894851, rs104894852, rs28935495, rs104894834, rs397515870, rs398123197, rs398123198, rs398123201, rs398123205, rs398123207, rs398123208, rs113173389, rs372966991, rs398123217, rs398123220, rs398123221, rs398123223, rs398123224, rs398123225, rs398123226, rs398123228, rs398123229, rs727503072, rs727503949, rs727503948, rs797044498, rs797044500, rs727504348, rs727504773, rs727505292, rs730880442, rs730880453, rs730880440, rs730880439, rs730880452, rs730880451, rs730880450, rs730880443, rs730880454, rs730880455, rs797044613, rs797044669, rs797044702, rs727504350, rs797044746, rs797044747, rs797044748, rs797044774, rs797044775, rs797044776, rs797044777, rs869312148, rs869312135, rs869312134, rs869312250, rs112341092, rs869312241, rs869312227, rs111422676, rs782509013, rs869312215, rs869312214, rs869312204, rs869312203, rs869312456, rs869312452, rs869312449, rs869312442, rs869312439, rs869312438, rs375538532, rs869312433, rs869312432, rs869312430, rs869312426, rs869312427, rs869312407, rs190347120, rs869312401, rs869312399, rs869312398, rs869312396, rs782506652, rs869312391, rs869312389, rs869312383, rs869312382, rs869312374, rs869312346, rs869312344, rs869312342, rs869312340, rs869312320, rs869312324, rs869312318, rs869312317, rs869312287, rs869312142, rs869312272, rs869312270, rs869312141, rs868966337, rs869312261, rs869312259, rs869312258, rs869312255, rs869312226, rs869312448, rs869312316, rs869312304, rs869312278, rs869312313, rs869312265, rs869025435, rs876661347, rs878853698, rs879253955, rs879254022, rs886039136, rs886041315, rs886044766, rs886044829, rs886044843, rs886044860, rs886044879, rs398123206, rs886044909, rs1057516429, rs1057521047, rs1060500747, rs1064796601, rs1064794205, rs1555984717, rs1555985827, rs1555985814, rs797044499, rs1555985002, rs1555987232, rs1555984840, rs1555985830, rs1555987175, rs1555985829, rs1555987162, rs1555985855, rs869312386, rs1555987215, rs1555985010, rs1555985091, rs1555985200, rs1555984869, rs398123212, rs797044727, rs1569306168, rs1569306036, rs1569304867, rs1569304898, rs1569306022, rs1569303213, rs398123216, rs1183869568, rs1569302697, rs1569302887, rs111812846, rs1569303030, rs1569303218, rs1569303843, rs1569304190, rs1569304221, rs1569304851, rs1569304886, rs398123199, rs1569306181, rs797044749, rs181562693, rs1603041916, rs869312158, rs1928167952, rs782197638, rs1928411447, rs1886145312
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	rs63750743, rs104894655, rs121908987, rs587776643, rs28938173, rs121908989, rs121908991, rs267606977, rs267606978, rs193922384, rs121909374, rs886041030, rs886041031, rs121909375, rs121909377, rs2856655, rs587776700, rs387906397, rs104894204, rs121434470, rs104894828, rs121964855, rs121964856, rs121964858, rs74315380, rs104894724, rs104894725, rs104894727, rs104894728, rs104894729, rs104894730, rs267607127, rs2147283135, rs267607128, rs267607125, rs104894502, rs104894503, rs104894504, rs28933405, rs111033560, rs121434594, rs80338797, rs104893748, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs121913633, rs121913634, rs3218714, rs121913636, rs121913637, rs121913638, rs121913639, rs121913641, rs121913642, rs121913643, rs121913647, rs121913650, rs121913651, rs36211715, rs121913654, rs267606911, rs267606908, rs730880850, rs121912675, rs267606629, rs193922680, rs1600482909, rs387906898, rs199476398, rs387907079, rs199474815, rs199474703, rs199476305, rs199476306, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922649, rs36211723, rs187830361, rs193922383, rs193922386, rs193922390, rs193922697, rs387907267, rs397507520, rs727505017, rs397515888, rs397515889, rs397515891, rs397515893, rs397515894, rs397515895, rs397515896, rs397515897, rs397515903, rs397515905, rs375882485, rs397515907, rs397515910, rs397515912, rs397515916, rs397515920, rs397515925, rs397515926, rs397515931, rs397515933, rs397515934, rs397515935, rs397515937, rs397515942, rs397515943, rs397515944, rs397515947, rs397515948, rs397515952, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515965, rs397515966, rs397515970, rs397515972, rs397515973, rs397515974, rs397515975, rs397515977, rs376395543, rs397515979, rs397515982, rs397515987, rs397515990, rs397515991, rs397515992, rs397515995, rs397515997, rs397516001, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs397516010, rs397516013, rs397516014, rs373746463, rs397516019, rs397516020, rs397516022, rs397516023, rs397516029, rs397516031, rs397516032, rs397516035, rs397516037, rs397516038, rs397516040, rs397516042, rs397516044, rs397516047, rs397516049, rs397516052, rs397516056, rs397516057, rs397516058, rs397516059, rs397516061, rs397516067, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs201078659, rs397516082, rs397516083, rs1555122751, rs397516088, rs397516089, rs397516095, rs397516098, rs397516101, rs397516103, rs397516110, rs397516127, rs371898076, rs397516132, rs397516134, rs397516142, rs3218716, rs397516153, rs397516154, rs397516155, rs397516156, rs397516157, rs397516160, rs397516161, rs397516165, rs397516166, rs397516170, rs397516171, rs397516172, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516238, rs397516248, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516266, rs397516269, rs397516340, rs397516347, rs121917760, rs397516349, rs397516353, rs397516354, rs397516355, rs397516357, rs397516373, rs397516406, rs397516455, rs397516456, rs397516457, rs397516463, rs397516464, rs45525839, rs397516470, rs397516471, rs45578238, rs111377893, rs397516736, rs397516738, rs397516739, rs397516751, rs397516752, rs397516784, rs397517283, rs397514752, rs143697995, rs267607490, rs199472948, rs138193236, rs398123279, rs869320740, rs606231340, rs606231324, rs587779392, rs587779393, rs587782951, rs587782957, rs587782958, rs587782962, rs587782965, rs138049878, rs376897125, rs368765949, rs727504247, rs376923877, rs727504277, rs727504255, rs727504246, rs727504331, rs727503513, rs727504392, rs397516039, rs727504271, rs727504321, rs727504289, rs727504305, rs727503172, rs573821685, rs727503176, rs727503178, rs727504423, rs727503180, rs727504333, rs727503182, rs727504265, rs727503184, rs727503186, rs727503187, rs727504252, rs727504864, rs727504334, rs727503192, rs397515932, rs727504366, rs727504248, rs727504287, rs200411226, rs727503204, rs727504329, rs727504269, rs573916965, rs367947846, rs727503210, rs730880335, rs727503166, rs727504390, rs730880361, rs727504276, rs111683277, rs727503174, rs727503175, rs727504349, rs727504314, rs727504371, rs730880341, rs727504293, rs727503195, rs111437311, rs727503202, rs727503203, rs727504279, rs727505152, rs727503209, rs727503211, rs727503212, rs727503217, rs727503219, rs730880366, rs727503220, rs727504356, rs727504311, rs727503261, rs727503264, rs727504238, rs148808089, rs727503271, rs727504409, rs727503276, rs727504283, rs727503296, rs45544633, rs727503246, rs727503252, rs727503253, rs202141173, rs2754158, rs727504310, rs727503260, rs727504272, rs727504240, rs727503263, rs727504239, rs727504925, rs727504237, rs727504236, rs727505202, rs727504267, rs727503278, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504264, rs727504275, rs727503500, rs727503503, rs727503120, rs730880336, rs730880337, rs730880362, rs730880210, rs730880143, rs730880159, rs730881116, rs730881122, rs730880162, rs730880605, rs730880604, rs730880600, rs730880702, rs730880598, rs730880597, rs730880699, rs730880592, rs730880675, rs730880720, rs730880719, rs730880672, rs730880668, rs730880718, rs730880666, rs730880586, rs730880584, rs11570112, rs730880578, rs730880576, rs730880660, rs730880657, rs730880655, rs730880654, rs730880653, rs730880652, rs730880714, rs730880651, rs730880558, rs730880649, rs730880647, rs730880713, rs730880646, rs730880546, rs727503197, rs730880695, rs730880644, rs730880640, rs730880712, rs730880544, rs730880542, rs730880541, rs730880538, rs730880533, rs730880531, rs730880641, rs730880639, rs397515890, rs730880724, rs730880635, rs730880723, rs730880686, rs730880631, rs730880678, rs730880629, rs730880684, rs368121566, rs730880621, rs730880681, rs375607980, rs730880618, rs730880680, rs730880679, rs730880677, rs730880704, rs730880703, rs730880721, rs730880698, rs730880664, rs730880663, rs730880662, rs730880659, rs730880916, rs727504558, rs730880759, rs730880756, rs730880750, rs730880749, rs730880748, rs730880736, rs727504241, rs727504299, rs730880732, rs730880883, rs730880930, rs730880929, rs730880875, rs370310929, rs730880926, rs730880864, rs730880856, rs397516268, rs730880922, rs730880845, rs730880388, rs730881091, rs786204352, rs786204339, rs786204338, rs786204336, rs786204329, rs2069544, rs281865416, rs773317399, rs121913648, rs730880809, rs863224483, rs863224899, rs863224900, rs863225120, rs863225121, rs863225107, rs863225114, rs863225113, rs863225104, rs863225105, rs863225112, rs863225106, rs863225109, rs863225111, rs863225100, rs863225103, rs863225102, rs863225097, rs863225101, rs730880876, rs863225272, rs863225271, rs190228518, rs863225269, rs761507504, rs864622224, rs1057515421, rs869025470, rs869025469, rs869025461, rs869025468, rs869025460, rs869025467, rs869025466, rs869025465, rs869025464, rs869025463, rs869025459, rs869025462, rs727503512, rs876657706, rs876657705, rs876657703, rs876657702, rs727503213, rs876657884, rs878854428, rs878853831, rs878853842, rs1562999443, rs1563003848, rs1562991002, rs879255639, rs886037900, rs886037902, rs886037901, rs886038822, rs886039030, rs886039185, rs754664923, rs141019458, rs1057517766, rs1057517767, rs779650200, rs1057518030, rs1057517711, rs1057519503, rs1057520814, rs1060499673, rs1060501480, rs1060501484, rs1060501481, rs1060501478, rs1064792936, rs1060501475, rs1060501479, rs1064792935, rs1060501436, rs1060501448, rs1060501443, rs1060501452, rs1060505018, rs1060499604, rs781135153, rs1064796231, rs1064793202, rs977277400, rs1064793429, rs771929829, rs745811346, rs1114167419, rs1114167361, rs1555409659, rs1555123389, rs1131691514, rs1131692185, rs1131692058, rs1553279294, rs1555120920, rs1555121924, rs1555338319, rs1555120300, rs1555121488, rs373792537, rs1444727212, rs1555338462, rs1555120937, rs1555123629, rs794727046, rs1555123633, rs1555121172, rs1555123438, rs1555336467, rs1555338658, rs1213930919, rs1432810664, rs1555122188, rs764743402, rs974671846, rs1420159591, rs745688425, rs1555338080, rs200889953, rs1555120258, rs1298025872, rs767039057, rs1555120529, rs1555121247, rs774521272, rs1555122156, rs1555123473, rs1555123496, rs1555123597, rs1555337701, rs2856897, rs869312381, rs1555122928, rs1555123743, rs1554401581, rs1555120651, rs868819340, rs1555122053, rs730880742, rs758891557, rs1555337794, rs1555338378, rs1555338758, rs1245885836, rs1566530698, rs1566513862, rs1565629792, rs730880751, rs727504294, rs1563001548, rs1565622952, rs1565625473, rs1565626409, rs1565627536, rs1565628062, rs1565628486, rs1565631430, rs1391622163, rs1131691685, rs749007293, rs1566535491, rs1565624090, rs1565625777, rs1565631428, rs1568858210, rs1566537070, rs1565627566, rs1567864804, rs1563161306, rs1565622703, rs190765116, rs1595843598, rs1565625795, rs1565628078, rs774316050, rs1565631381, rs1565631424, rs1566531421, rs730880872, rs730880870, rs1566536418, rs1566536436, rs1565623216, rs1265248322, rs113276889, rs1562998062, rs1419032418, rs1565627615, rs1565624196, rs1595843640, rs1595846398, rs764950910, rs1600448065, rs1600462474, rs1417887060, rs1600477808, rs1600480573, rs1050997719, rs1420394583, rs1595840648, rs1595841063, rs1595843549, rs1595843758, rs1595845565, rs1595845888, rs1595846344, rs1595846475, rs1595849931, rs1595070747, rs1246272841, rs730880741, rs1173617248, rs1595085409, rs730880879, rs1299079662, rs1595848628, rs1595849603, rs1450218521, rs1571627587, rs1603037717, rs1603038411, rs1595850762, rs777702465, rs1595841736, rs1595842238, rs1595845204, rs1025692267, rs1595070689, rs1198682781, rs2095879705, rs201911056, rs727504425, rs141414377, rs1596303148, rs1595841206, rs1595844714, rs1595842632, rs1595843828, rs113709679, rs1595841552, rs1595849742, rs754529157, rs1709195189, rs1342121466, rs2095880935, rs2095883508, rs2095884984, rs2095889902, rs2095891411, rs2095898532, rs780625785, rs1892592854, rs1892948780, rs2095879167, rs1956121988, rs2095893477, rs2095894178, rs1801002279, rs1892956157
Mental retardation	Severe intellectual disability, Mild Mental Retardation, 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
Neuroaxonal dystrophy	Infantile Neuroaxonal Dystrophy, Neuroaxonal Dystrophies, Adult Neuroaxonal Dystrophy, Juvenile Neuroaxonal Dystrophy, Late Infantile Neuroaxonal Dystrophy	rs121908680, rs587784343, rs121908683, rs587784353, rs121908685, rs121908686, rs121908687, rs387906863, rs200075782, rs199935023, rs587784352, rs587784350, rs587784339, rs149712244, rs121908681, rs535486098, rs587784330, rs587784329, rs587784327, rs587784361, rs587784359, rs794729212, rs797045888, rs886039552, rs368497893, rs1060499764, rs764959600, rs1555979401, rs750939090, rs1555988204, rs1556032708, rs1235695530, rs1465629909, rs1569263730, rs1569243565, rs1569264087, rs761815070, rs1282370486, rs1602057157, rs1602051017, rs1397030516, rs776713955, rs1602088419, rs1177564212, rs1025497590, rs753874848	2243144
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575

Unknown
Disease term	Disease name	Evidence	References	Source
Peripheral axonal neuropathy	Peripheral axonal neuropathy			ClinVar
Alpha-N-acetylgalactosaminidase deficiency	alpha-N-acetylgalactosaminidase deficiency			GenCC
Alpha-N-Acetylgalactosaminidase Deficiency	alpha-N-acetylgalactosaminidase deficiency type 3			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Colonic Neoplasms	Associate	29748462
Fabry Disease	Associate	8040340
Mental Disorders	Associate	34637873
Neuroaxonal Dystrophies	Associate	2243144, 8040340
Parkinson Disease	Associate	32348865
Schindler Disease Type I	Associate	2243144, 8040340, 9741689