SUMF1 (sulfatase modifying factor 1)

Gene

• Entrez ID: 285362
• Gene name: Sulfatase modifying factor 1
• Gene symbol: SUMF1
• Synonyms: AAPA3037, FGE, UNQ3037
• Chromosome: 3
• Chromosome location: 3p26.1
• Summary: This gene encodes an enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-alpha-formylglycine. Mutations in this gene cause multi

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852844	G>A,T	Pathogenic	Stop gained, missense variant, intron variant, coding sequence variant
rs137852845	G>A,C	Pathogenic	Stop gained, missense variant, intron variant, coding sequence variant
rs137852846	G>A	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs137852847	C>T	Pathogenic	Missense variant, intron variant, coding sequence variant
rs137852848	A>G	Pathogenic	Missense variant, intron variant, coding sequence variant
rs137852849	G>A,C	Pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs137852850	A>G	Pathogenic, pathogenic-likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs137852851	A>C	Pathogenic	Initiator codon variant, missense variant
rs137852852	G>A	Pathogenic	Missense variant, intron variant, coding sequence variant
rs137852853	C>G	Pathogenic	Missense variant, intron variant, coding sequence variant
rs137852854	C>T	Pathogenic	Missense variant, coding sequence variant
rs137852855	T>C	Pathogenic	Initiator codon variant, missense variant
rs146050361	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, synonymous variant
rs387906976	C>A	Pathogenic	Missense variant, coding sequence variant
rs770241913	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs775324176	TACT>-	Pathogenic	Coding sequence variant, intron variant, splice donor variant
rs986500427	C>A,G,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs1057517363	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793391	T>C	Pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1085307107	C>T	Pathogenic	Missense variant, coding sequence variant
rs1553575867	A>C	Pathogenic	Stop gained, coding sequence variant
rs1575196325	CT>-	Likely-pathogenic	Splice acceptor variant, coding sequence variant
rs1575197564	C>T	Pathogenic	Stop gained, coding sequence variant
rs1575266004	CCTTTGAGTGCGCGAGTTGCCGCTCTCCGGGTACGGGGCCCGGAGCGTTAGCCTCCCGCGAGTATCGGTGAGCGGCTGCCGAACTGCCATGGGCGCCAGGCCGCTGGGGCGTGCCGCAGCCGCAAGAACCCGCAAGGGACCCCGCGCCCGCACCGGTCCCGGCCTCCTGGCTCCCTGCCGCTCCACACAGCAGCGAGAGCAGCAGCAGCAAGAGGACGAGACCCAGCTCAGGGCAACGTCCACACACCA>-	Likely-pathogenic	Intron variant, splice donor variant, coding sequence variant
rs1575266034	G>C	Pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019314	hsa-miR-148b-3p	Microarray	17612493
MIRT020442	hsa-miR-106b-5p	Microarray	17242205
MIRT022044	hsa-miR-128-3p	Microarray	17612493
MIRT1402947	hsa-miR-142-5p	CLIP-seq
MIRT1402948	hsa-miR-197	CLIP-seq
MIRT1402949	hsa-miR-299-3p	CLIP-seq
MIRT1402950	hsa-miR-3189-5p	CLIP-seq
MIRT1402951	hsa-miR-337-5p	CLIP-seq
MIRT1402952	hsa-miR-340	CLIP-seq
MIRT1402953	hsa-miR-3682-3p	CLIP-seq
MIRT1402954	hsa-miR-3692	CLIP-seq
MIRT1402955	hsa-miR-371-5p	CLIP-seq
MIRT1402956	hsa-miR-371b-5p	CLIP-seq
MIRT1402957	hsa-miR-4291	CLIP-seq
MIRT1402958	hsa-miR-4310	CLIP-seq
MIRT1402959	hsa-miR-4432	CLIP-seq
MIRT1402960	hsa-miR-4539	CLIP-seq
MIRT1402961	hsa-miR-4648	CLIP-seq
MIRT1402962	hsa-miR-4654	CLIP-seq
MIRT1402963	hsa-miR-4695-3p	CLIP-seq
MIRT1402964	hsa-miR-4769-5p	CLIP-seq
MIRT1402965	hsa-miR-548a-5p	CLIP-seq
MIRT1402966	hsa-miR-548ab	CLIP-seq
MIRT1402967	hsa-miR-548ak	CLIP-seq
MIRT1402968	hsa-miR-548b-5p	CLIP-seq
MIRT1402969	hsa-miR-548c-5p	CLIP-seq
MIRT1402970	hsa-miR-548d-5p	CLIP-seq
MIRT1402971	hsa-miR-548h	CLIP-seq
MIRT1402972	hsa-miR-548i	CLIP-seq
MIRT1402973	hsa-miR-548j	CLIP-seq
MIRT1402974	hsa-miR-548n	CLIP-seq
MIRT1402975	hsa-miR-548w	CLIP-seq
MIRT1402976	hsa-miR-548y	CLIP-seq
MIRT1402977	hsa-miR-559	CLIP-seq
MIRT1402978	hsa-miR-624	CLIP-seq
MIRT1402979	hsa-miR-95	CLIP-seq
MIRT1402980	hsa-miR-106a	CLIP-seq
MIRT1402981	hsa-miR-106b	CLIP-seq
MIRT1402982	hsa-miR-17	CLIP-seq
MIRT1402983	hsa-miR-20a	CLIP-seq
MIRT1402984	hsa-miR-20b	CLIP-seq
MIRT1402985	hsa-miR-3148	CLIP-seq
MIRT1402986	hsa-miR-3189-3p	CLIP-seq
MIRT1402987	hsa-miR-3973	CLIP-seq
MIRT1402988	hsa-miR-3978	CLIP-seq
MIRT1402989	hsa-miR-4251	CLIP-seq
MIRT1402990	hsa-miR-4303	CLIP-seq
MIRT1402991	hsa-miR-4329	CLIP-seq
MIRT1402992	hsa-miR-4422	CLIP-seq
MIRT1402993	hsa-miR-502-5p	CLIP-seq
MIRT1402994	hsa-miR-519a	CLIP-seq
MIRT1402995	hsa-miR-519b-3p	CLIP-seq
MIRT1402996	hsa-miR-519c-3p	CLIP-seq
MIRT1402997	hsa-miR-519d	CLIP-seq
MIRT1402998	hsa-miR-520g	CLIP-seq
MIRT1402999	hsa-miR-520h	CLIP-seq
MIRT1403000	hsa-miR-539	CLIP-seq
MIRT1403001	hsa-miR-577	CLIP-seq
MIRT1403002	hsa-miR-93	CLIP-seq
MIRT1403003	hsa-miR-936	CLIP-seq
MIRT1403004	hsa-miR-133a	CLIP-seq
MIRT1403005	hsa-miR-133b	CLIP-seq
MIRT1402957	hsa-miR-4291	CLIP-seq
MIRT1402958	hsa-miR-4310	CLIP-seq
MIRT1402992	hsa-miR-4422	CLIP-seq
MIRT1402960	hsa-miR-4539	CLIP-seq
MIRT1403006	hsa-miR-4726-3p	CLIP-seq
MIRT1403007	hsa-miR-545	CLIP-seq
MIRT1402980	hsa-miR-106a	CLIP-seq
MIRT1402981	hsa-miR-106b	CLIP-seq
MIRT2120795	hsa-miR-1236	CLIP-seq
MIRT1402947	hsa-miR-142-5p	CLIP-seq
MIRT1402982	hsa-miR-17	CLIP-seq
MIRT1402983	hsa-miR-20a	CLIP-seq
MIRT1402984	hsa-miR-20b	CLIP-seq
MIRT1402949	hsa-miR-299-3p	CLIP-seq
MIRT1402985	hsa-miR-3148	CLIP-seq
MIRT2120796	hsa-miR-3187-3p	CLIP-seq
MIRT1402986	hsa-miR-3189-3p	CLIP-seq
MIRT1402950	hsa-miR-3189-5p	CLIP-seq
MIRT1402952	hsa-miR-340	CLIP-seq
MIRT2120797	hsa-miR-34c-3p	CLIP-seq
MIRT2120798	hsa-miR-369-3p	CLIP-seq
MIRT2120799	hsa-miR-374c	CLIP-seq
MIRT2120800	hsa-miR-3925-5p	CLIP-seq
MIRT1402988	hsa-miR-3978	CLIP-seq
MIRT1402958	hsa-miR-4310	CLIP-seq
MIRT2120801	hsa-miR-4435	CLIP-seq
MIRT2120802	hsa-miR-4529-5p	CLIP-seq
MIRT1402961	hsa-miR-4648	CLIP-seq
MIRT1402962	hsa-miR-4654	CLIP-seq
MIRT2120803	hsa-miR-4666-5p	CLIP-seq
MIRT2120804	hsa-miR-4701-5p	CLIP-seq
MIRT2120805	hsa-miR-4761-5p	CLIP-seq
MIRT1402964	hsa-miR-4769-5p	CLIP-seq
MIRT1402993	hsa-miR-502-5p	CLIP-seq
MIRT1402994	hsa-miR-519a	CLIP-seq
MIRT1402995	hsa-miR-519b-3p	CLIP-seq
MIRT1402996	hsa-miR-519c-3p	CLIP-seq
MIRT1402997	hsa-miR-519d	CLIP-seq
MIRT1402998	hsa-miR-520g	CLIP-seq
MIRT1402999	hsa-miR-520h	CLIP-seq
MIRT2120806	hsa-miR-548s	CLIP-seq
MIRT2120807	hsa-miR-588	CLIP-seq
MIRT2120808	hsa-miR-655	CLIP-seq
MIRT1403002	hsa-miR-93	CLIP-seq
MIRT1402980	hsa-miR-106a	CLIP-seq
MIRT1402981	hsa-miR-106b	CLIP-seq
MIRT2120795	hsa-miR-1236	CLIP-seq
MIRT2342818	hsa-miR-1269	CLIP-seq
MIRT2342819	hsa-miR-1269b	CLIP-seq
MIRT2342820	hsa-miR-1270	CLIP-seq
MIRT2342821	hsa-miR-1288	CLIP-seq
MIRT2342822	hsa-miR-1324	CLIP-seq
MIRT1402982	hsa-miR-17	CLIP-seq
MIRT2342823	hsa-miR-185	CLIP-seq
MIRT2342824	hsa-miR-188-5p	CLIP-seq
MIRT2342825	hsa-miR-1912	CLIP-seq
MIRT2342826	hsa-miR-205	CLIP-seq
MIRT1402983	hsa-miR-20a	CLIP-seq
MIRT1402984	hsa-miR-20b	CLIP-seq
MIRT2342827	hsa-miR-2110	CLIP-seq
MIRT2342828	hsa-miR-219-1-3p	CLIP-seq
MIRT1402949	hsa-miR-299-3p	CLIP-seq
MIRT1402985	hsa-miR-3148	CLIP-seq
MIRT1402986	hsa-miR-3189-3p	CLIP-seq
MIRT1402950	hsa-miR-3189-5p	CLIP-seq
MIRT2342829	hsa-miR-337-3p	CLIP-seq
MIRT1402951	hsa-miR-337-5p	CLIP-seq
MIRT2120797	hsa-miR-34c-3p	CLIP-seq
MIRT2342830	hsa-miR-3685	CLIP-seq
MIRT1402954	hsa-miR-3692	CLIP-seq
MIRT2342831	hsa-miR-377	CLIP-seq
MIRT2342832	hsa-miR-384	CLIP-seq
MIRT2342833	hsa-miR-3938	CLIP-seq
MIRT1402988	hsa-miR-3978	CLIP-seq
MIRT2342834	hsa-miR-4257	CLIP-seq
MIRT2342835	hsa-miR-4268	CLIP-seq
MIRT2342836	hsa-miR-4271	CLIP-seq
MIRT1402957	hsa-miR-4291	CLIP-seq
MIRT2342837	hsa-miR-4306	CLIP-seq
MIRT1402958	hsa-miR-4310	CLIP-seq
MIRT1402992	hsa-miR-4422	CLIP-seq
MIRT2342838	hsa-miR-4448	CLIP-seq
MIRT2342839	hsa-miR-4515	CLIP-seq
MIRT2342840	hsa-miR-4529-3p	CLIP-seq
MIRT2342841	hsa-miR-4531	CLIP-seq
MIRT1402960	hsa-miR-4539	CLIP-seq
MIRT2342842	hsa-miR-4643	CLIP-seq
MIRT2342843	hsa-miR-4644	CLIP-seq
MIRT1402961	hsa-miR-4648	CLIP-seq
MIRT1402962	hsa-miR-4654	CLIP-seq
MIRT2342844	hsa-miR-4667-5p	CLIP-seq
MIRT2342845	hsa-miR-4700-5p	CLIP-seq
MIRT2342846	hsa-miR-4717-3p	CLIP-seq
MIRT2342847	hsa-miR-4725-3p	CLIP-seq
MIRT2342848	hsa-miR-4740-5p	CLIP-seq
MIRT2120805	hsa-miR-4761-5p	CLIP-seq
MIRT1402964	hsa-miR-4769-5p	CLIP-seq
MIRT2342849	hsa-miR-4802-3p	CLIP-seq
MIRT1402993	hsa-miR-502-5p	CLIP-seq
MIRT1402994	hsa-miR-519a	CLIP-seq
MIRT1402995	hsa-miR-519b-3p	CLIP-seq
MIRT1402996	hsa-miR-519c-3p	CLIP-seq
MIRT1402997	hsa-miR-519d	CLIP-seq
MIRT1402998	hsa-miR-520g	CLIP-seq
MIRT1402999	hsa-miR-520h	CLIP-seq
MIRT2342850	hsa-miR-571	CLIP-seq
MIRT2342851	hsa-miR-579	CLIP-seq
MIRT2342852	hsa-miR-620	CLIP-seq
MIRT1402978	hsa-miR-624	CLIP-seq
MIRT2342853	hsa-miR-626	CLIP-seq
MIRT2342854	hsa-miR-7	CLIP-seq
MIRT1403002	hsa-miR-93	CLIP-seq
MIRT1403003	hsa-miR-936	CLIP-seq
MIRT1402979	hsa-miR-95	CLIP-seq
MIRT1402986	hsa-miR-3189-3p	CLIP-seq
MIRT2692436	hsa-miR-124	CLIP-seq
MIRT2692437	hsa-miR-409-3p	CLIP-seq
MIRT1402960	hsa-miR-4539	CLIP-seq
MIRT2692438	hsa-miR-4749-3p	CLIP-seq
MIRT2692439	hsa-miR-506	CLIP-seq
MIRT2692440	hsa-miR-548an	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005783	Component	Endoplasmic reticulum	IBA	21873635
GO:0005783	Component	Endoplasmic reticulum	IDA	18266766, 21224894
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0006687	Process	Glycosphingolipid metabolic process	TAS
GO:0016491	Function	Oxidoreductase activity	TAS
GO:0018158	Process	Protein oxidation	IDA	21224894, 25931126
GO:0042802	Function	Identical protein binding	IEA
GO:0043687	Process	Post-translational protein modification	IDA	21224894, 25931126
GO:0043687	Process	Post-translational protein modification	TAS
GO:0120147	Function	Formylglycine-generating oxidase activity	IDA	21224894, 25931126
GO:1903135	Function	Cupric ion binding	IDA	25931126

Other IDs

• MIM: 607939
• HGNC: 20376
• e!Ensembl: ENSG00000144455

Protein

• UniProt ID: Q8NBK3
• Protein name: Formylglycine-generating enzyme (FGE) (EC 1.8.3.7) (C-alpha-formylglycine-generating enzyme 1) (Sulfatase-modifying factor 1)
• Protein function: Oxidase that catalyzes the conversion of cysteine to 3-oxoalanine on target proteins, using molecular oxygen and an unidentified reducing agent (PubMed:12757706, PubMed:15657036, PubMed:15907468, PubMed:16368756, PubMed:21224894, PubMed:25931126
• PDB: 1Y1E, 1Y1F, 1Y1G, 1Y1H, 1Y1I, 1Y1J, 1Z70, 2AFT, 2AFY, 2AII, 2AIJ, 2AIK, 2HI8, 2HIB, 5SSX, 5SSY, 5SSZ, 8ARU
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03781	FGE-sulfatase	87 → 367	Sulfatase-modifying factor enzyme 1	Domain

• Sequence:

  MAAPALGLVCGRCPELGLVLLLLLLSLLCGAAGSQEAGTGAGAGSLAGSCGCGTPQRPGA
  HGSSAAAHRYSREANAPGPVPGERQLAHSKMVPIPAGVFTMGTDDPQIKQDGEAPARRVT
  IDAFYMDAYEVSNTEFEKFVNSTGYLTEAEKFGDSFVFEGMLSEQVKTNIQQAVAAAPWW
  LPVKGANWRHPEGPDSTILHRPDHPVLHVSWNDAVAYCTWAGKRLPTEAEWEYSCRGGLH
  NRLFPWGNKLQPKGQHYANIWQGEFPVTNTGEDGFQGTAPVDAFPPNGYGLYNIVGNAWE
  WTSDWWTVHHSVEETLNPKGPPSGKDRVKKGGSYMCHRSYCYRYRCAARSQNTPDSSASN
  LGFRCAADRLPTMD

• Sequence length: 374

Pathways

KEGG:

Lysosome

Reactome:

Glycosphingolipid metabolism
The activation of arylsulfatases

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
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
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
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Ichthyosis	Ichthyoses	rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs1569044747, rs200806519
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
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
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Multiple sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544	20802204
Multiple sulfatase deficiency	Multiple Sulfatase Deficiency Disease, Multiple sulfatase deficiency	rs775324176, rs137852844, rs137852845, rs137852846, rs137852847, rs137852848, rs137852849, rs2124822282, rs770241913, rs137852850, rs137852851, rs137852852, rs137852853, rs137852854, rs1584599101, rs137852855, rs387906976, rs1085307107, rs1057517363, rs1553575867, rs986500427, rs1575197564, rs1575266034, rs1575196325, rs1575266004, rs1703025184, rs143616931	27604308, 18509892, 15146462, 12757706, 21224894, 12757705, 24339620, 15907468, 26825355, 18157819, 25885655, 17657823, 27415407, 25373814, 16125993, 25305402, 27344646
Narcolepsy	Narcolepsy	rs104894574, rs387906655	19629137
Hypotonia	Neonatal Hypotonia	rs141138948, rs397517172, rs869312824, rs1583169151
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 name	Disease term	dbSNP ID	References
Central nervous system demyelination	Central nervous system demyelination
Cerebellar atrophy	Cerebellar atrophy
Cerebral atrophy	Cerebral atrophy
Dwarfism	Dwarfism
Pfaundler-hurler syndrome	Pfaundler-Hurler Syndrome
Sulfatidosis	Sulfatidosis, Juvenile, Austin Type		17657823, 12757705