NEU1 (neuraminidase 1)

Gene

• Entrez ID: 4758
• Gene name: Neuraminidase 1
• Gene symbol: NEU1
• Synonyms (NCBI Gene): NANH, NEU, SIAL1
• Chromosome: 6
• Chromosome location: 6p21.33
• Summary: The protein encoded by this gene is a lysosomal enzyme that cleaves terminal sialic acid residues from substrates such as glycoproteins and glycolipids. In the lysosome, this enzyme is part of a heterotrimeric complex together with beta-galactosidase and

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28940583	C>T	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs104893971	C>A	Pathogenic	Coding sequence variant, stop gained
rs104893972	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs104893977	A>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs104893978	A>G	Pathogenic	Coding sequence variant, missense variant
rs104893979	G>A	Pathogenic	Coding sequence variant, missense variant
rs104893980	C>A,G,T	Pathogenic	Coding sequence variant, missense variant
rs104893981	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs104893983	C>T	Pathogenic	Coding sequence variant, missense variant
rs104893984	C>G,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs104893985	G>A	Pathogenic	Coding sequence variant, missense variant
rs193922915	A>G	Pathogenic	Coding sequence variant, missense variant
rs398123392	T>C,G	Uncertain-significance, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs746607723	G>A,C,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs754405067	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs769765227	C>T	Pathogenic	Coding sequence variant, missense variant
rs864309513	T>C,G	Pathogenic	Splice acceptor variant
rs886042881	AGACA>TTTGGC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1486980139	C>G,T	Pathogenic	Splice donor variant
rs1581820081	C>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020584	hsa-miR-155-5p	Proteomics	18668040
MIRT1180937	hsa-miR-139-5p	CLIP-seq
MIRT1180938	hsa-miR-3140-5p	CLIP-seq
MIRT1180939	hsa-miR-323-5p	CLIP-seq
MIRT1180940	hsa-miR-34a	CLIP-seq
MIRT1180941	hsa-miR-34c-5p	CLIP-seq
MIRT1180942	hsa-miR-3616-3p	CLIP-seq
MIRT1180943	hsa-miR-3684	CLIP-seq
MIRT1180944	hsa-miR-3688-5p	CLIP-seq
MIRT1180945	hsa-miR-3714	CLIP-seq
MIRT1180946	hsa-miR-4436b-3p	CLIP-seq
MIRT1180947	hsa-miR-4449	CLIP-seq
MIRT1180948	hsa-miR-4493	CLIP-seq
MIRT1180949	hsa-miR-449a	CLIP-seq
MIRT1180950	hsa-miR-449b	CLIP-seq
MIRT1180951	hsa-miR-4532	CLIP-seq
MIRT1180952	hsa-miR-4700-3p	CLIP-seq
MIRT1180953	hsa-miR-4704-3p	CLIP-seq
MIRT1180954	hsa-miR-4728-5p	CLIP-seq
MIRT1180955	hsa-miR-876-3p	CLIP-seq
MIRT2052307	hsa-miR-125a-5p	CLIP-seq
MIRT2052308	hsa-miR-125b	CLIP-seq
MIRT2052309	hsa-miR-2355-5p	CLIP-seq
MIRT2052310	hsa-miR-23a	CLIP-seq
MIRT2052311	hsa-miR-23b	CLIP-seq
MIRT2052312	hsa-miR-23c	CLIP-seq
MIRT2052313	hsa-miR-24	CLIP-seq
MIRT2052314	hsa-miR-2467-5p	CLIP-seq
MIRT2052315	hsa-miR-3591-3p	CLIP-seq
MIRT2052316	hsa-miR-3614-3p	CLIP-seq
MIRT2052317	hsa-miR-4297	CLIP-seq
MIRT2052318	hsa-miR-4319	CLIP-seq
MIRT2052319	hsa-miR-4682	CLIP-seq
MIRT2052320	hsa-miR-4695-5p	CLIP-seq
MIRT2052321	hsa-miR-4732-3p	CLIP-seq
MIRT2052322	hsa-miR-583	CLIP-seq
MIRT2052323	hsa-miR-670	CLIP-seq
MIRT2281723	hsa-miR-1226	CLIP-seq
MIRT2281724	hsa-miR-1245b-3p	CLIP-seq
MIRT2052307	hsa-miR-125a-5p	CLIP-seq
MIRT2052308	hsa-miR-125b	CLIP-seq
MIRT2281725	hsa-miR-1286	CLIP-seq
MIRT2281726	hsa-miR-129-5p	CLIP-seq
MIRT2281727	hsa-miR-144	CLIP-seq
MIRT2281728	hsa-miR-146b-3p	CLIP-seq
MIRT2281729	hsa-miR-197	CLIP-seq
MIRT2281730	hsa-miR-2113	CLIP-seq
MIRT2052309	hsa-miR-2355-5p	CLIP-seq
MIRT2052310	hsa-miR-23a	CLIP-seq
MIRT2052311	hsa-miR-23b	CLIP-seq
MIRT2052312	hsa-miR-23c	CLIP-seq
MIRT2052313	hsa-miR-24	CLIP-seq
MIRT2052314	hsa-miR-2467-5p	CLIP-seq
MIRT2281731	hsa-miR-339-5p	CLIP-seq
MIRT2052316	hsa-miR-3614-3p	CLIP-seq
MIRT1180942	hsa-miR-3616-3p	CLIP-seq
MIRT2281732	hsa-miR-4265	CLIP-seq
MIRT2281733	hsa-miR-4296	CLIP-seq
MIRT2052317	hsa-miR-4297	CLIP-seq
MIRT2052318	hsa-miR-4319	CLIP-seq
MIRT2281734	hsa-miR-4322	CLIP-seq
MIRT2281735	hsa-miR-4330	CLIP-seq
MIRT1180946	hsa-miR-4436b-3p	CLIP-seq
MIRT2281736	hsa-miR-4648	CLIP-seq
MIRT2281737	hsa-miR-4654	CLIP-seq
MIRT2052319	hsa-miR-4682	CLIP-seq
MIRT2052320	hsa-miR-4695-5p	CLIP-seq
MIRT2281738	hsa-miR-4721	CLIP-seq
MIRT2052321	hsa-miR-4732-3p	CLIP-seq
MIRT2281739	hsa-miR-4733-3p	CLIP-seq
MIRT2281740	hsa-miR-4769-5p	CLIP-seq
MIRT2281741	hsa-miR-5096	CLIP-seq
MIRT2281742	hsa-miR-630	CLIP-seq
MIRT2052323	hsa-miR-670	CLIP-seq
MIRT2281723	hsa-miR-1226	CLIP-seq
MIRT2052307	hsa-miR-125a-5p	CLIP-seq
MIRT2052308	hsa-miR-125b	CLIP-seq
MIRT2281728	hsa-miR-146b-3p	CLIP-seq
MIRT2281729	hsa-miR-197	CLIP-seq
MIRT2052309	hsa-miR-2355-5p	CLIP-seq
MIRT2052310	hsa-miR-23a	CLIP-seq
MIRT2052311	hsa-miR-23b	CLIP-seq
MIRT2052312	hsa-miR-23c	CLIP-seq
MIRT2052313	hsa-miR-24	CLIP-seq
MIRT2052314	hsa-miR-2467-5p	CLIP-seq
MIRT2281731	hsa-miR-339-5p	CLIP-seq
MIRT2052315	hsa-miR-3591-3p	CLIP-seq
MIRT2052316	hsa-miR-3614-3p	CLIP-seq
MIRT2052317	hsa-miR-4297	CLIP-seq
MIRT2052318	hsa-miR-4319	CLIP-seq
MIRT2052319	hsa-miR-4682	CLIP-seq
MIRT2052320	hsa-miR-4695-5p	CLIP-seq
MIRT2052321	hsa-miR-4732-3p	CLIP-seq
MIRT2281739	hsa-miR-4733-3p	CLIP-seq
MIRT2281741	hsa-miR-5096	CLIP-seq
MIRT2052322	hsa-miR-583	CLIP-seq
MIRT2052323	hsa-miR-670	CLIP-seq
MIRT1180942	hsa-miR-3616-3p	CLIP-seq
MIRT1180946	hsa-miR-4436b-3p	CLIP-seq
MIRT1180947	hsa-miR-4449	CLIP-seq
MIRT1180951	hsa-miR-4532	CLIP-seq
MIRT1180954	hsa-miR-4728-5p	CLIP-seq
MIRT2281723	hsa-miR-1226	CLIP-seq
MIRT2052307	hsa-miR-125a-5p	CLIP-seq
MIRT2052308	hsa-miR-125b	CLIP-seq
MIRT2579911	hsa-miR-1283	CLIP-seq
MIRT1180937	hsa-miR-139-5p	CLIP-seq
MIRT2281728	hsa-miR-146b-3p	CLIP-seq
MIRT2281729	hsa-miR-197	CLIP-seq
MIRT2579912	hsa-miR-205	CLIP-seq
MIRT2052309	hsa-miR-2355-5p	CLIP-seq
MIRT2052310	hsa-miR-23a	CLIP-seq
MIRT2052311	hsa-miR-23b	CLIP-seq
MIRT2052312	hsa-miR-23c	CLIP-seq
MIRT2052313	hsa-miR-24	CLIP-seq
MIRT2052314	hsa-miR-2467-5p	CLIP-seq
MIRT2281731	hsa-miR-339-5p	CLIP-seq
MIRT2579913	hsa-miR-33a	CLIP-seq
MIRT2579914	hsa-miR-33b	CLIP-seq
MIRT2052315	hsa-miR-3591-3p	CLIP-seq
MIRT2052316	hsa-miR-3614-3p	CLIP-seq
MIRT1180942	hsa-miR-3616-3p	CLIP-seq
MIRT2579915	hsa-miR-362-5p	CLIP-seq
MIRT1180943	hsa-miR-3684	CLIP-seq
MIRT2579916	hsa-miR-3976	CLIP-seq
MIRT2052317	hsa-miR-4297	CLIP-seq
MIRT2052318	hsa-miR-4319	CLIP-seq
MIRT1180946	hsa-miR-4436b-3p	CLIP-seq
MIRT1180947	hsa-miR-4449	CLIP-seq
MIRT2579917	hsa-miR-4528	CLIP-seq
MIRT1180951	hsa-miR-4532	CLIP-seq
MIRT2052319	hsa-miR-4682	CLIP-seq
MIRT2052320	hsa-miR-4695-5p	CLIP-seq
MIRT1180952	hsa-miR-4700-3p	CLIP-seq
MIRT1180954	hsa-miR-4728-5p	CLIP-seq
MIRT2052321	hsa-miR-4732-3p	CLIP-seq
MIRT2281739	hsa-miR-4733-3p	CLIP-seq
MIRT2579918	hsa-miR-500b	CLIP-seq
MIRT2579919	hsa-miR-501-5p	CLIP-seq
MIRT2281741	hsa-miR-5096	CLIP-seq
MIRT2579920	hsa-miR-576-3p	CLIP-seq
MIRT2052322	hsa-miR-583	CLIP-seq
MIRT2579921	hsa-miR-664	CLIP-seq
MIRT2052323	hsa-miR-670	CLIP-seq
MIRT2281723	hsa-miR-1226	CLIP-seq
MIRT2052307	hsa-miR-125a-5p	CLIP-seq
MIRT2052308	hsa-miR-125b	CLIP-seq
MIRT1180937	hsa-miR-139-5p	CLIP-seq
MIRT2281728	hsa-miR-146b-3p	CLIP-seq
MIRT2281729	hsa-miR-197	CLIP-seq
MIRT2052309	hsa-miR-2355-5p	CLIP-seq
MIRT2052310	hsa-miR-23a	CLIP-seq
MIRT2052311	hsa-miR-23b	CLIP-seq
MIRT2052312	hsa-miR-23c	CLIP-seq
MIRT2052313	hsa-miR-24	CLIP-seq
MIRT2052314	hsa-miR-2467-5p	CLIP-seq
MIRT2281731	hsa-miR-339-5p	CLIP-seq
MIRT2052315	hsa-miR-3591-3p	CLIP-seq
MIRT2052316	hsa-miR-3614-3p	CLIP-seq
MIRT1180943	hsa-miR-3684	CLIP-seq
MIRT2052317	hsa-miR-4297	CLIP-seq
MIRT2052318	hsa-miR-4319	CLIP-seq
MIRT2052319	hsa-miR-4682	CLIP-seq
MIRT2052320	hsa-miR-4695-5p	CLIP-seq
MIRT1180952	hsa-miR-4700-3p	CLIP-seq
MIRT2052321	hsa-miR-4732-3p	CLIP-seq
MIRT2281739	hsa-miR-4733-3p	CLIP-seq
MIRT2281741	hsa-miR-5096	CLIP-seq
MIRT2052322	hsa-miR-583	CLIP-seq
MIRT2052323	hsa-miR-670	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004308	Function	Exo-alpha-sialidase activity	IBA	21873635
GO:0004308	Function	Exo-alpha-sialidase activity	IDA	8985184
GO:0004308	Function	Exo-alpha-sialidase activity	TAS
GO:0005515	Function	Protein binding	IPI	25910212, 32296183
GO:0005576	Component	Extracellular region	TAS
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005764	Component	Lysosome	IBA	21873635
GO:0005764	Component	Lysosome	IDA	8985184, 25153125
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006687	Process	Glycosphingolipid metabolic process	TAS
GO:0006689	Process	Ganglioside catabolic process	IBA	21873635
GO:0009313	Process	Oligosaccharide catabolic process	IBA	21873635
GO:0009313	Process	Oligosaccharide catabolic process	IMP	8985184
GO:0016020	Component	Membrane	IBA	21873635
GO:0016997	Function	Alpha-sialidase activity	IMP	25153125
GO:0030054	Component	Cell junction	IDA
GO:0035580	Component	Specific granule lumen	TAS
GO:0043202	Component	Lysosomal lumen	TAS
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA	21873635
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0052794	Function	Exo-alpha-(2->3)-sialidase activity	IEA
GO:0052795	Function	Exo-alpha-(2->6)-sialidase activity	IEA
GO:0052796	Function	Exo-alpha-(2->8)-sialidase activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708, 23533145

Other IDs

• MIM: 608272
• HGNC: 7758
• e!Ensembl: ENSG00000204386

Protein

• UniProt ID: Q99519
• Protein name: Sialidase-1 (EC 3.2.1.18) (Acetylneuraminyl hydrolase) (G9 sialidase) (Lysosomal sialidase) (N-acetyl-alpha-neuraminidase 1)
• Protein function: Catalyzes the removal of sialic acid (N-acetylneuraminic acid) moieties from glycoproteins and glycolipids. To be active, it is strictly dependent on its presence in the multienzyme complex. Appears to have a preference for alpha 2-3 and alpha 2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13088	BNR_2	88 → 382	BNR repeat-like domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in pancreas, followed by skeletal muscle, kidney, placenta, heart, lung and liver. Weakly expressed in brain. {ECO:0000269|PubMed:8985184, ECO:0000269|PubMed:9054950}.
• Sequence:

  MTGERPSTALPDRRWGPRILGFWGGCRVWVFAAIFLLLSLAASWSKAENDFGLVQPLVTM
  EQLLWVSGRQIGSVDTFRIPLITATPRGTLLAFAEARKMSSSDEGAKFIALRRSMDQGST
  WSPTAFIVNDGDVPDGLNLGAVVSDVETGVVFLFYSLCAHKAGCQVASTMLVWSKDDGVS
  WSTPRNLSLDIGTEVFAPGPGSGIQKQREPRKGRLIVCGHGTLERDGVFCLLSDDHGASW
  RYGSGVSGIPYGQPKQENDFNPDECQPYELPDGSVVINARNQNNYHCHCRIVLRSYDACD
  TLRPRDVTFDPELVDPVVAAGAVVTSSGIVFFSNPAHPEFRVNLTLRWSFSNGTSWRKET
  VQLWPGPSGYSSLATLEGSMDGEEQAPQLYVLYEKGRNHYTESISVAKISVYGTL

• Sequence length: 415

Pathways

KEGG:

Other glycan degradation
Sphingolipid metabolism
Metabolic pathways
Lysosome

Reactome:

Glycosphingolipid metabolism
Sialic acid metabolism
Defective NEU1 causes sialidosis
Neutrophil degranulation

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Action myoclonus-renal failure syndrome	Action Myoclonus-Renal Failure Syndrome	rs727502772, rs727502773, rs121909118, rs121909119, rs727502781, rs727502782, rs200053119, rs886041078, rs886041077, rs886041076, rs886041075, rs995674389, rs1553948516, rs1578733075	25401298
Cardiomyopathy	Cardiomyopathies	rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377, rs2856655, rs587776700, rs387906397, rs137854607, rs28935197, rs199473684, rs121964858, rs74315379, rs74315380, rs104894724, rs104894727, rs104894728, rs104894729, rs104894730, rs121917760, rs267607125, rs104894503, rs267607155, rs267607156, rs121918597, rs121918600, rs28933979, rs121918070, rs76992529, rs111033559, rs111033560, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs3218714, rs121913637, rs121913638, rs121913641, rs121913642, rs121913651, rs267606911, rs267606908, rs730880850, rs61046466, rs57520892, rs28933091, rs28933092, rs28933093, rs121913008, rs121913003, rs121912996, rs121912997, rs193922680, rs387906875, rs199474703, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922683, rs193922668, rs386134243, rs267607578, rs36211723, rs193922390, rs193922672, rs193922697, rs387907267, rs45546039, rs387907218, rs397515870, rs397515893, rs397515894, rs397515903, rs397515905, rs375882485, rs397515907, rs397515912, rs397515916, rs397515925, rs397515926, rs397515934, rs397515937, rs397515943, rs397515944, rs397515947, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515973, rs397515974, rs397515977, rs376395543, rs397515979, rs397515982, rs397515990, rs397515991, rs397515992, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs373746463, rs397516019, rs397516023, rs397516029, rs397516031, rs397516037, rs397516040, rs397516042, rs397516044, rs397516049, rs397516057, rs397516059, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs397516082, rs397516083, rs397516088, rs397516089, rs397516103, rs397516123, rs397516127, rs371898076, rs397516132, rs397516142, rs3218716, rs397516154, rs397516161, rs397516165, rs397516170, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516248, rs397516252, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516269, rs397516347, rs397516349, rs397516352, rs397516353, rs397516355, rs397516356, rs397516357, rs397516364, rs397516370, rs397516371, rs397516373, rs397516386, rs397516406, rs397516454, rs397516456, rs397516461, rs397516463, rs397516464, rs45525839, rs397516471, rs45578238, rs111377893, rs397516607, rs62636495, rs397516784, rs397516881, rs397516913, rs397516915, rs397516927, rs397516940, rs397516943, rs397516945, rs397516955, rs397516956, rs397516973, rs397516986, rs397516989, rs372827156, rs397516992, rs397516993, rs397516994, rs397516997, rs397517003, rs397517008, rs397517010, rs397517012, rs397517021, rs397517065, rs397517547, rs397517576, rs397517580, rs397517584, rs397517586, rs397517587, rs397517589, rs397517601, rs397517620, rs397517624, rs397517626, rs397517628, rs72646831, rs397517633, rs397517643, rs72646846, rs397517664, rs397517679, rs397517689, rs397517695, rs397517696, rs397517698, rs397517721, rs397517735, rs397517741, rs397517749, rs397517750, rs397517758, rs397517776, rs397517787, rs397517830, rs397517887, rs397517888, rs397517889, rs58013325, rs397517895, rs56984562, rs267607646, rs58917027, rs267607594, rs397517904, rs61195471, rs60682848, rs267607573, rs397517908, rs58978449, rs397517909, rs267607593, rs397517911, rs56816490, rs397517915, rs267607554, rs397514742, rs886041395, rs397515482, rs267607490, rs58999456, rs267607555, rs61672878, rs267607618, rs267607577, rs57730570, rs267607582, rs267607581, rs61444459, rs59270054, rs61661343, rs267607570, rs59026483, rs267607571, rs59332535, rs199473161, rs398123262, rs869320740, rs606231324, rs587782927, rs201754030, rs58389804, rs587782958, rs587782961, rs587782962, rs587782986, rs138049878, rs376897125, rs368765949, rs111569862, rs727504247, rs727503537, rs727504535, rs727504550, rs727504679, rs727503546, rs730880365, rs727504646, rs727505014, rs727505288, rs727503557, rs727503559, rs730880343, rs727503615, rs727504825, rs727503565, rs727504655, rs727505352, rs727504466, rs727504531, rs727503567, rs371678190, rs727503586, rs727505319, rs727503547, rs727505076, rs727505224, rs727503552, rs727504856, rs727504782, rs727504660, rs557312035, rs727505284, rs727504851, rs727504589, rs727504499, rs727504843, rs727504452, rs727503697, rs150974575, rs727504498, rs727503598, rs727503602, rs727503607, rs727504801, rs727504738, rs727505115, rs727505283, rs727505109, rs727504271, rs727504321, rs727504289, rs727503172, rs727503180, rs727503182, rs727504265, rs727504334, rs727503192, rs397515932, rs727504287, rs200411226, rs727503204, rs727504269, rs367947846, rs730880335, rs727502897, rs727503166, rs111683277, rs727503195, rs727503203, rs727503212, rs727503738, rs727504381, rs727504356, rs727503261, rs727504238, rs148808089, rs45544633, rs727503246, rs397516171, rs727503253, rs202141173, rs727504310, rs727503258, rs727503260, rs727504320, rs727504240, rs727503263, rs727503269, rs727503278, rs727504432, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504379, rs727504389, rs727504275, rs727504557, rs727502994, rs727504184, rs730880336, rs730880362, rs730880199, rs730880246, rs72648265, rs730880243, rs730880242, rs730880241, rs574660186, rs730880245, rs730880082, rs730880092, rs730880093, rs730880055, rs397515939, rs730881119, rs397516020, rs730880675, rs730880719, rs730880672, rs730880671, rs730880718, rs730880666, rs730880717, rs730880655, rs730880715, rs730880654, rs730880714, rs730880651, rs730880648, rs730880713, rs730880546, rs730880695, rs730880533, rs730880531, rs730880639, rs730880689, rs730880686, rs730880629, rs368121566, rs375607980, rs730880704, rs730880698, rs730880750, rs730880748, rs730880875, rs730880845, rs1565623093, rs786204339, rs786204336, rs786204392, rs786204388, rs786204950, rs786204951, rs794727381, rs760576804, rs112188483, rs794728597, rs794728606, rs794728593, rs59564495, rs190140598, rs794728826, rs794728803, rs794728106, rs149701627, rs1554108152, rs770873593, rs794728124, rs141026028, rs794728094, rs794729098, rs794729116, rs764817683, rs751288871, rs201405287, rs794729137, rs794729133, rs766209297, rs767987619, rs769220833, rs794729120, rs112240298, rs748382770, rs794729365, rs794729301, rs757451467, rs794729359, rs794729354, rs794729353, rs794729285, rs794729284, rs794729338, rs794729332, rs368452607, rs794729278, rs794729325, rs794729324, rs754866489, rs794729265, rs751502842, rs794729320, rs794729380, rs748313513, rs797046064, rs863225113, rs863225106, rs761507504, rs864622224, rs1057515421, rs751039219, rs869025555, rs869025546, rs869025554, rs869025559, rs869025545, rs869025558, rs869025557, rs200797552, rs869025550, rs869025549, rs869025544, rs869025552, rs869025548, rs869025556, rs770029258, rs869025523, rs869025398, rs869025399, rs869025395, rs869025365, rs869025469, rs869025483, rs749838192, rs869312028, rs869312037, rs869312038, rs869312039, rs869312040, rs869312041, rs869312042, rs869312044, rs869312046, rs373040154, rs869312047, rs869312048, rs869312049, rs869312050, rs869312051, rs869312052, rs869312054, rs869312055, rs777602537, rs869312056, rs869312057, rs869312058, rs869312059, rs869312060, rs770038577, rs869312061, rs869312062, rs869312063, rs869312064, rs869312065, rs869312066, rs869312067, rs869312068, rs869312069, rs771562210, rs869312070, rs869312071, rs759231562, rs869312072, rs869312073, rs764243269, rs768345594, rs869312074, rs869312075, rs869312076, rs869312077, rs869312078, rs869312079, rs869312080, rs772121356, rs869312081, rs869312082, rs72648250, rs869312083, rs869312084, rs869312085, rs869312086, rs869312087, rs869312100, rs779129892, rs756367933, rs869312102, rs869312103, rs869312104, rs869312105, rs869312106, rs770767998, rs869312107, rs775186117, rs869312108, rs869312109, rs869312110, rs869312111, rs755261062, rs869312112, rs763824247, rs869312113, rs869312114, rs869312115, rs869312116, rs774604740, rs869312117, rs779996703, rs869312118, rs869312119, rs869312120, rs869312121, rs869312122, rs869312045, rs753948675, rs878854371, rs794728589, rs876657650, rs727503512, rs876658027, rs876657672, rs876657671, rs868494032, rs876657670, rs780512337, rs876657669, rs876657668, rs876657666, rs876657665, rs876657664, rs876657663, rs148894066, rs876657634, rs869248137, rs876657705, rs876657704, rs727503213, rs869025496, rs876657662, rs876657884, rs36211715, rs878855234, rs879255521, rs879255639, rs886038928, rs751746401, rs886039030, rs869038795, rs886039343, rs2069544, rs1114167341, rs1114167340, rs886041322, rs886042331, rs886043718, rs747662439, rs886043924, rs773840992, rs886044536, rs1057517903, rs754354190, rs779650200, rs902082118, rs1057518920, rs1057519457, rs1057523045, rs370072439, rs1064792916, rs1060500495, rs1060500575, rs926741242, rs774763657, rs746877365, rs1060500610, rs1060501484, rs1060501479, rs1064792928, rs1060501443, rs1060499604, rs1064793814, rs1064796347, rs977277400, rs1064793429, rs745811346, rs1064794350, rs1555142963, rs1064793983, rs769665204, rs751261054, rs769139957, rs1131691873, rs1131691655, rs1131691673, rs1464253797, rs1408345511, rs1553603152, rs1554398705, rs1322596650, rs1553539995, rs1553611989, rs749961489, rs1444727212, rs1243301263, rs971618751, rs1553662326, rs1389777522, rs764985774, rs1554108287, rs1554105911, rs1249913357, rs1554108012, rs111806457, rs1402879259, rs748416758, rs794727046, rs1425855043, rs869178171, rs1432810664, rs749465164, rs878898365, rs1419374180, rs770878165, rs1553503113, rs1553691320, rs1553577362, rs1553603456, rs1417036453, rs1553741321, rs1553479603, rs1553607425, rs974671846, rs1420159591, rs745688425, rs1554875409, rs1555144459, rs1555338080, rs1555338574, rs1555148035, rs200889953, rs1401116572, rs1285329277, rs974510652, rs1263987728, rs1555122928, rs992189342, rs1555142971, rs1553261855, rs1553265647, rs1553488049, rs1553644307, rs1553663867, rs1553940122, rs28763965, rs758891557, rs762110595, rs1555436118, rs1555435531, rs565910322, rs376766195, rs1562168768, rs763443331, rs1562169661, rs1370579526, rs1561703922, rs1564773559, rs1559003939, rs1559598775, rs1559415567, rs1559877046, rs776970935, rs553526525, rs1561698362, rs1561694696, rs1561702640, rs730880751, rs1060505018, rs766330686, rs1565631430, rs1565050320, rs876657767, rs1565053085, rs1565053147, rs1557778277, rs1557776329, rs886039136, rs771262904, rs727504314, rs1563000044, rs541612157, rs766265889, rs1558988204, rs1559051231, rs1559262463, rs1559448864, rs1559469421, rs1559556267, rs1559746821, rs1559873786, rs1561323791, rs1561445221, rs1561686893, rs1561698714, rs1561702549, rs1565623439, rs1565623713, rs1565626367, rs1565627110, rs1565627145, rs397515889, rs1565628520, rs774316050, rs1592798444, rs1565590309, rs1566967399, rs1569552936, rs1559712733, rs1561690319, rs1561701721, rs869125101, rs1595843553, rs1576018303, rs746115846, rs777315336, rs1431206462, rs1572358674, rs1477669354, rs1575584918, rs1575614351, rs72648222, rs1575799625, rs1576014673, rs1576147786, rs747469275, rs1581805658, rs1227662860, rs1585169831, rs1592729525, rs762753884, rs1596155145, rs1572358821, rs991187915, rs1575649368, rs1060500562, rs1450218521, rs775256998, rs1572332762, rs1571627006, rs1575253896, rs1575616801, rs1575775337, rs1575948935, rs1574083547, rs1574087037, rs1589632398, rs1585171818, rs1603365762, rs768079285, rs1575663327, rs1575796530, rs1574659116, rs267607001, rs1567093598, rs1572359848, rs1060500505, rs1575512482, rs1575872984, rs1161735211, rs1576141328, rs906494713, rs1576685753, rs1266489077, rs1581813564, rs778808038, rs397516363, rs1596386673, rs1575610911, rs727503266, rs1603377936, rs777702465, rs1708504899, rs2054381012, rs1575285509, rs1695435412, rs1699247877, rs879139686, rs2060187635, rs761380979, rs1464886350, rs1956192035, rs752522753, rs1205836993, rs2095894178
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
Dentatorubral pallidoluysian atrophy	Dentatorubral-Pallidoluysian Atrophy	rs60216939	25401298
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
Hydrops fetalis	Hydrops Fetalis, Hydrops Fetalis, Non-Immune	rs28935477, rs1131691986	11702224
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
Mucolipidosis	Mucolipidoses, Type I Mucolipidosis	rs281865025, rs137852896, rs137852897, rs137852898, rs281865038, rs137852899, rs281865031, rs281865027, rs34002892, rs34940801, rs34788341, rs137852900, rs104886461, rs121908371, rs121908372, rs121908373, rs121908374, rs281865023, rs281865026, rs36007394, rs34924076, rs34161232, rs281865028, rs281865030, rs281865032, rs281865033, rs34256381, rs281865012, rs281865035, rs281865036, rs281865039, rs35333334, rs34946266, rs281865024, rs35878526, rs34517004, rs281864969, rs281864970, rs200646278, rs397507447, rs281864973, rs281864976, rs78347057, rs397507448, rs281864981, rs281864982, rs281864983, rs281864984, rs281864991, rs281864992, rs281864996, rs281864998, rs281864999, rs281865001, rs281865009, rs142065232, rs281865017, rs281864954, rs281865018, rs281865022, rs281864955, rs281864961, rs281864962, rs281864963, rs281864964, rs281865007, rs397507562, rs797044663, rs781689303, rs774506925, rs797044824, rs767122713, rs755042147, rs797044822, rs797044817, rs797044818, rs797044823, rs1555742780, rs875989952, rs886041533, rs1057516246, rs1057516602, rs1057517453, rs1057517040, rs767950930, rs1057516904, rs1057517335, rs1057516458, rs1057516531, rs1057518781, rs769587233, rs1060499680, rs1060499690, rs148748724, rs1408113895, rs35576380, rs1429181351, rs1555277061, rs1555742162, rs1555741545, rs1555741822, rs1555741548, rs779141908, rs1566067386, rs1568398702, rs1594242785, rs1596603769, rs1594204203, rs1594210760, rs1594214799, rs1599254152, rs376777270, rs1599255682, rs1310955639, rs1441014377, rs2022550603, rs2022607233, rs1953092495, rs750793712	11702224, 14695530, 27604308, 14517945, 16712870, 24808020, 10767332
Myoclonic epilepsy	Familial Progressive Myoclonic Epilepsy, Myoclonic Epilepsies, Progressive	rs267607103, rs267607104, rs147484110, rs74315442, rs74315443, rs121909346, rs121918622, rs121918623, rs121917954, rs121917955, rs1574272192, rs121918624, rs121918625, rs121918628, rs121918629, rs121918630, rs1574061044, rs121918632, rs397514458, rs397514459, rs386833439, rs386833440, rs386833441, rs796943858, rs386833443, rs398122387, rs121917923, rs121917957, rs121917929, rs121917927, rs121917966, rs121917967, rs121917990, rs121917941, rs121917964, rs121917943, rs121917972, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917974, rs121917945, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917949, rs121917926, rs121917950, rs121917951, rs121917952, rs121917980, rs121917921, rs121917981, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917909, rs121917938, rs121917928, rs121918753, rs121918782, rs121918784, rs121918733, rs121918734, rs121918788, rs121918736, rs121917969, rs121918775, rs121918737, rs121918786, rs121918796, rs121918754, rs121918745, rs121918738, rs121918746, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918797, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918763, rs121918757, rs121918751, rs121918783, rs121918773, rs121918793, rs121918780, rs121918735, rs398123585, rs398123588, rs398123593, rs545986367, rs727504136, rs794726737, rs794726739, rs794726845, rs779614747, rs794726726, rs372098964, rs794726801, rs794726769, rs794726781, rs794726780, rs794726741, rs794726783, rs794726832, rs794726814, rs794726722, rs794726703, rs794726702, rs794726763, rs794726802, rs794726804, rs794726748, rs794726851, rs794726740, rs794726754, rs794726698, rs794726758, rs794726760, rs794726819, rs794726839, rs794726759, rs199727342, rs794726701, rs794726850, rs794726785, rs794726800, rs764037830, rs794726757, rs794726752, rs794726825, rs794726835, rs139300715, rs794726809, rs794726696, rs794726734, rs794726699, rs794726705, rs794726784, rs794726745, rs794726707, rs794726779, rs794726821, rs794726822, rs794726789, rs794726723, rs146878122, rs794726816, rs794726700, rs794726853, rs794726731, rs794726852, rs794726841, rs794726709, rs777939538, rs794726817, rs794726727, rs794726706, rs794726770, rs794726735, rs794726744, rs794726854, rs794726710, rs794726720, rs794726836, rs794726774, rs794726729, rs794726728, rs794726733, rs542420576, rs794726756, rs794726813, rs794726830, rs794726714, rs794726772, rs1696406839, rs794726842, rs794726828, rs794726823, rs794726708, rs794726808, rs794726716, rs121917971, rs794726718, rs794726721, rs794726761, rs794726815, rs794726786, rs794726787, rs794726697, rs794726775, rs794726712, rs794726794, rs794726738, rs794726805, rs767045134, rs794726820, rs794726766, rs794726750, rs794726743, rs794726742, rs794726795, rs794726730, rs794726806, rs794726747, rs794726838, rs794726778, rs794726834, rs794726736, rs794726704, rs794726773, rs794726749, rs794726717, rs794726790, rs794726829, rs794726807, rs794726810, rs121917989, rs794726826, rs794726725, rs794726818, rs794726776, rs794726777, rs794726765, rs794726753, rs794726732, rs794726799, rs794726695, rs794726792, rs794726767, rs794726768, rs794726844, rs794726782, rs794726797, rs794726843, rs794726798, rs794726824, rs794726837, rs794726846, rs794726788, rs794726847, rs794726812, rs794726771, rs794726751, rs773407463, rs794726755, rs794726719, rs794726724, rs794726833, rs794726827, rs1553551314, rs794726840, rs794726849, rs794726764, rs794726803, rs794726831, rs794726711, rs794726793, rs760361423, rs794726796, rs794726762, rs35595680, rs764444350, rs794726848, rs786205214, rs794729200, rs794729207, rs796053029, rs796053014, rs796053010, rs796053004, rs796053001, rs796052973, rs779184118, rs781746113, rs796052961, rs796052957, rs863225037, rs863225036, rs863225035, rs863225034, rs863225033, rs863225032, rs863225030, rs863225038, rs863225031, rs869312670, rs869312684, rs886039430, rs121917959, rs886041980, rs886042528, rs781507889, rs1057517959, rs1057518671, rs1057519533, rs1057519534, rs1057519530, rs1057519531, rs1060502189, rs1064794766, rs748759187, rs368609628, rs1553345874, rs121918795, rs1266877537, rs1553266166, rs1553522321, rs1553543215, rs1553525325, rs1553520530, rs1553544470, rs1553551493, rs1553553462, rs1553560831, rs201966711, rs537026414, rs1559101839, rs1559114303, rs1559149128, rs1553553527, rs1569006250, rs781657502, rs1574370981, rs1366966423, rs1574312497, rs796053036, rs1573949198, rs1573953706, rs1573963975, rs1573973548, rs1573984110, rs1574005699, rs1574007140, rs1574052179, rs1574069132, rs1574166948, rs1574168611, rs1574183148, rs886041292, rs1574208760, rs1574209023, rs1574217232, rs1553545567, rs796053094, rs1574240716, rs1553549471, rs1574264920, rs1574266816, rs1574271602, rs1574271644, rs1574291210, rs1574371141, rs1574371902, rs796052488, rs1581220163, rs1196223064, rs1574182550, rs1573953030, rs1574201555, rs1574281711, rs1696401617, rs1692166604, rs1574006637, rs1689139851, rs1689186812, rs1689309551, rs1689680658, rs1697997770, rs1698732089, rs1698941202, rs1697667767, rs1691073965, rs1698009615	25401298
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Osteochondrodysplasia	Osteochondrodysplasias	rs386833498, rs104893919, rs104893916, rs386833492, rs121908078, rs386833497, rs386833507, rs200963884, rs121908077, rs786204675, rs763198695, rs1554095433, rs766836061
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	26198764
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Sialidosis	Sialidosis, type 2, Sialidosis type 1, Juvenile sialidosis type 2	rs104893971, rs104893972, rs104893977, rs193922915, rs1581820081, rs28940583, rs104893983, rs104893984, rs104893985, rs104893978, rs104893979, rs1486980139, rs104893980, rs104893981, rs104893986, rs769765227, rs398123392, rs754405067, rs768711214
Skeletal dysplasia	Skeletal dysplasia	rs121912632, rs121912633, rs121912634, rs121912636, rs121912637, rs267607147, rs387906324, rs267607150, rs397514473, rs398123438, rs515726153, rs515726154, rs515726162, rs515726163, rs515726172, rs757011098

Unknown
Disease term	Disease name	Evidence	References	Source
Congenital Sialidosis	congenital sialidosis type 2			GenCC
Carcinoma	Carcinoma			GWAS
Eosinophilia	Eosinophilia			GWAS
Systemic lupus erythematosus	Systemic lupus erythematosus			GWAS
Dental caries	Dental caries			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Abortion Spontaneous	Inhibit	34135905
Anodontia	Associate	26497328
Breast Neoplasms	Stimulate	19893046
Breast Neoplasms	Associate	2428391, 31311202
Bronchitis	Associate	29433792
Carcinogenesis	Associate	28814832
Carcinoma Hepatocellular	Associate	22219594, 27602751
Carcinoma Pancreatic Ductal	Associate	25184537
Colorectal Neoplasms	Associate	12149448, 29547645
COVID 19	Associate	25639813, 34020222, 35294004
Critical Illness	Associate	20587176
Disease	Associate	23860768
Drug Hypersensitivity	Associate	25633562
Drug Resistant Epilepsy	Associate	23437217
Epileptic Encephalopathy Early Infantile 3	Associate	33798445
Esophageal Squamous Cell Carcinoma	Associate	38460365
Glioblastoma	Associate	37511403
Heart defects limb shortening	Associate	12067718
Hemochromatosis	Associate	12067718
Hemolytic Uremic Syndrome	Associate	22591179
HTLV I Infections	Associate	11781317
Immunologic Deficiency Syndromes	Associate	9435242
Infections	Associate	20975994, 21284922, 21343149, 21801626, 22243670, 23860768, 25001578, 27714496, 34388979, 34696326, 35294004, 36991360
Influenza Human	Associate	10655394, 12970442, 19133796, 19309695, 19321726, 19745803, 19857993, 20003906, 20587176, 20668122, 21122225, 21148493, 21799795, 22243670, 23437217, 24214415, 24430126, 25001578, 25033052, 25639813, 25934861, 25992792, 26460183, 27038555, 27849220, 28754164, 28951584, 29933553, 29981793, 30067808, 30548432, 30715373, 31843889, 33038626, 33713731, 34070388, 34388979, 34696326, 35304163, 35446141, 36159843, 36832544, 36991360, 37490957, 37764457, 37992963, 38430970
Kidney Diseases	Associate	24088848
Leukemia Lymphocytic Chronic B Cell	Associate	1721040, 3485460
Long QT Syndrome	Associate	26497387
Lung Neoplasms	Associate	10898120
Lupus Erythematosus Systemic	Associate	31137925, 31509989
Lupus Nephritis	Associate	34872988
Lymphoma Large Cell Anaplastic	Associate	25573487
Melanoma	Inhibit	25447529
Metabolic Diseases	Associate	8985184
Microphthalmia Syndromic 10	Associate	23291686
Mucolipidoses	Associate	11470272, 12067718, 16314420, 16538002, 23291686, 29414417, 29455223, 32453490, 32485644, 32867703, 34992946, 39298726, 39350194, 8985184
Mucolipidoses	Inhibit	32867703, 33516873, 33922276
Mumps	Associate	30190529
Myocarditis	Associate	38262078
Myositis	Associate	34872988
Myotonia Congenita	Associate	30177469
Neoplasms	Associate	10428197, 2039710, 25184537, 29278877, 32631440, 33116404
Neoplasms	Inhibit	37511403
Nervous System Malformations	Associate	33922276
Neuraminidase 1 deficiency	Associate	11470272, 16538002, 23291686, 29455223, 32485644, 39298726
Neuraminidase deficiency with beta galactosidase deficiency	Associate	16314420, 1694176
Neuraminidase deficiency with beta galactosidase deficiency	Inhibit	1756715, 8985184
Ototoxicity	Associate	21470465
Ovarian Neoplasms	Stimulate	29278877
Pancreatic Neoplasms	Associate	33116404
Papilledema	Associate	32867703
Pneumonia	Associate	25033052
Primary visual agnosia	Associate	32867703
Respiration Disorders	Associate	25033052
Seasonal Affective Disorder	Associate	25241691
Signs and Symptoms Respiratory	Associate	32631440
Tay Sachs Disease	Associate	4639018
Thrombosis	Stimulate	27602751
Triple Negative Breast Neoplasms	Associate	26191126
Tuberculosis Multidrug Resistant	Associate	21801626
Virus Diseases	Associate	11781317, 23125526, 23965618, 25001578, 36361900