USP45 (ubiquitin specific peptidase 45)

Gene

• Entrez ID: 85015
• Gene name: Ubiquitin specific peptidase 45
• Gene symbol: USP45
• Synonyms: LCA19
• Chromosome: 6
• Chromosome location: 6q16.2
• Summary: The protein encoded by this gene is a deubiquitylase that binds ERCC1, the catalytic subunit of the XPF-ERCC1 DNA repair endonuclease. This endonuclease is a critical regulator of DNA repair processes, and the deubiquitylase activity of the encoded protei

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT026646	hsa-miR-192-5p	Microarray	19074876
MIRT028362	hsa-miR-32-5p	Sequencing	20371350
MIRT051365	hsa-let-7f-5p	CLASH	23622248
MIRT569069	hsa-miR-3662	PAR-CLIP	20371350
MIRT569068	hsa-miR-6873-5p	PAR-CLIP	20371350
MIRT569067	hsa-miR-6783-5p	PAR-CLIP	20371350
MIRT569066	hsa-miR-520g-5p	PAR-CLIP	20371350
MIRT569065	hsa-miR-3145-3p	PAR-CLIP	20371350
MIRT569064	hsa-miR-3148	PAR-CLIP	20371350
MIRT569063	hsa-miR-4668-5p	PAR-CLIP	20371350
MIRT569062	hsa-miR-630	PAR-CLIP	20371350
MIRT569061	hsa-miR-518d-5p	PAR-CLIP	20371350
MIRT569060	hsa-miR-518e-5p	PAR-CLIP	20371350
MIRT569059	hsa-miR-518f-5p	PAR-CLIP	20371350
MIRT569058	hsa-miR-519a-5p	PAR-CLIP	20371350
MIRT569057	hsa-miR-519b-5p	PAR-CLIP	20371350
MIRT569056	hsa-miR-519c-5p	PAR-CLIP	20371350
MIRT569055	hsa-miR-520c-5p	PAR-CLIP	20371350
MIRT569054	hsa-miR-522-5p	PAR-CLIP	20371350
MIRT569053	hsa-miR-523-5p	PAR-CLIP	20371350
MIRT569052	hsa-miR-526a	PAR-CLIP	20371350
MIRT569050	hsa-miR-4777-5p	PAR-CLIP	20371350
MIRT569051	hsa-miR-3149	PAR-CLIP	20371350
MIRT569069	hsa-miR-3662	PAR-CLIP	20371350
MIRT569068	hsa-miR-6873-5p	PAR-CLIP	20371350
MIRT569067	hsa-miR-6783-5p	PAR-CLIP	20371350
MIRT569066	hsa-miR-520g-5p	PAR-CLIP	20371350
MIRT569065	hsa-miR-3145-3p	PAR-CLIP	20371350
MIRT569064	hsa-miR-3148	PAR-CLIP	20371350
MIRT569063	hsa-miR-4668-5p	PAR-CLIP	20371350
MIRT569062	hsa-miR-630	PAR-CLIP	20371350
MIRT569061	hsa-miR-518d-5p	PAR-CLIP	20371350
MIRT569060	hsa-miR-518e-5p	PAR-CLIP	20371350
MIRT569059	hsa-miR-518f-5p	PAR-CLIP	20371350
MIRT569058	hsa-miR-519a-5p	PAR-CLIP	20371350
MIRT569057	hsa-miR-519b-5p	PAR-CLIP	20371350
MIRT569056	hsa-miR-519c-5p	PAR-CLIP	20371350
MIRT569055	hsa-miR-520c-5p	PAR-CLIP	20371350
MIRT569054	hsa-miR-522-5p	PAR-CLIP	20371350
MIRT569053	hsa-miR-523-5p	PAR-CLIP	20371350
MIRT569052	hsa-miR-526a	PAR-CLIP	20371350
MIRT569050	hsa-miR-4777-5p	PAR-CLIP	20371350
MIRT569051	hsa-miR-3149	PAR-CLIP	20371350
MIRT1479787	hsa-miR-1184	CLIP-seq
MIRT1479788	hsa-miR-1205	CLIP-seq
MIRT1479789	hsa-miR-125a-5p	CLIP-seq
MIRT1479790	hsa-miR-125b	CLIP-seq
MIRT1479791	hsa-miR-1273f	CLIP-seq
MIRT1479792	hsa-miR-1286	CLIP-seq
MIRT1479793	hsa-miR-1291	CLIP-seq
MIRT1479794	hsa-miR-1323	CLIP-seq
MIRT1479795	hsa-miR-143	CLIP-seq
MIRT1479796	hsa-miR-28-3p	CLIP-seq
MIRT1479797	hsa-miR-3158-5p	CLIP-seq
MIRT1479798	hsa-miR-3199	CLIP-seq
MIRT1479799	hsa-miR-328	CLIP-seq
MIRT1479800	hsa-miR-3529	CLIP-seq
MIRT1479801	hsa-miR-3609	CLIP-seq
MIRT1479802	hsa-miR-3616-5p	CLIP-seq
MIRT1479803	hsa-miR-362-5p	CLIP-seq
MIRT1479804	hsa-miR-3647-3p	CLIP-seq
MIRT1479805	hsa-miR-3647-5p	CLIP-seq
MIRT1479806	hsa-miR-3650	CLIP-seq
MIRT1479807	hsa-miR-379	CLIP-seq
MIRT1479808	hsa-miR-3927	CLIP-seq
MIRT1479809	hsa-miR-4282	CLIP-seq
MIRT1479810	hsa-miR-4319	CLIP-seq
MIRT1479811	hsa-miR-4324	CLIP-seq
MIRT1479812	hsa-miR-4477b	CLIP-seq
MIRT1479813	hsa-miR-4643	CLIP-seq
MIRT1479814	hsa-miR-4648	CLIP-seq
MIRT1479815	hsa-miR-466	CLIP-seq
MIRT1479816	hsa-miR-4694-3p	CLIP-seq
MIRT1479817	hsa-miR-4699-3p	CLIP-seq
MIRT1479818	hsa-miR-4708-5p	CLIP-seq
MIRT1479819	hsa-miR-4709-3p	CLIP-seq
MIRT1479820	hsa-miR-4722-5p	CLIP-seq
MIRT1479821	hsa-miR-4763-5p	CLIP-seq
MIRT1479822	hsa-miR-4764-3p	CLIP-seq
MIRT1479823	hsa-miR-4770	CLIP-seq
MIRT1479824	hsa-miR-4789-3p	CLIP-seq
MIRT1479825	hsa-miR-4793-3p	CLIP-seq
MIRT1479826	hsa-miR-4795-5p	CLIP-seq
MIRT1479827	hsa-miR-500b	CLIP-seq
MIRT1479828	hsa-miR-501-5p	CLIP-seq
MIRT1479829	hsa-miR-513a-3p	CLIP-seq
MIRT1479830	hsa-miR-520g	CLIP-seq
MIRT1479831	hsa-miR-520h	CLIP-seq
MIRT1479832	hsa-miR-522	CLIP-seq
MIRT1479833	hsa-miR-548ag	CLIP-seq
MIRT1479834	hsa-miR-548ah	CLIP-seq
MIRT1479835	hsa-miR-548ai	CLIP-seq
MIRT1479836	hsa-miR-548g	CLIP-seq
MIRT1479837	hsa-miR-548o	CLIP-seq
MIRT1479838	hsa-miR-573	CLIP-seq
MIRT1479839	hsa-miR-590-3p	CLIP-seq
MIRT1479840	hsa-miR-607	CLIP-seq
MIRT1479841	hsa-miR-619	CLIP-seq
MIRT1479842	hsa-miR-633	CLIP-seq
MIRT1479843	hsa-miR-643	CLIP-seq
MIRT2144446	hsa-miR-1182	CLIP-seq
MIRT2144447	hsa-miR-2681	CLIP-seq
MIRT1479803	hsa-miR-362-5p	CLIP-seq
MIRT1479806	hsa-miR-3650	CLIP-seq
MIRT2144448	hsa-miR-3682-5p	CLIP-seq
MIRT2144449	hsa-miR-3685	CLIP-seq
MIRT2144450	hsa-miR-384	CLIP-seq
MIRT2144451	hsa-miR-3942-3p	CLIP-seq
MIRT2144452	hsa-miR-433	CLIP-seq
MIRT1479813	hsa-miR-4643	CLIP-seq
MIRT2144453	hsa-miR-4694-5p	CLIP-seq
MIRT1479822	hsa-miR-4764-3p	CLIP-seq
MIRT2144454	hsa-miR-483-3p	CLIP-seq
MIRT1479827	hsa-miR-500b	CLIP-seq
MIRT1479828	hsa-miR-501-5p	CLIP-seq
MIRT1479832	hsa-miR-522	CLIP-seq
MIRT2364663	hsa-miR-1183	CLIP-seq
MIRT2364664	hsa-miR-1265	CLIP-seq
MIRT2364665	hsa-miR-1343	CLIP-seq
MIRT2364666	hsa-miR-1915	CLIP-seq
MIRT2364667	hsa-miR-2054	CLIP-seq
MIRT2364668	hsa-miR-2355-5p	CLIP-seq
MIRT1479796	hsa-miR-28-3p	CLIP-seq
MIRT2364669	hsa-miR-3124-3p	CLIP-seq
MIRT2364670	hsa-miR-3150b-3p	CLIP-seq
MIRT1479803	hsa-miR-362-5p	CLIP-seq
MIRT1479804	hsa-miR-3647-3p	CLIP-seq
MIRT2144449	hsa-miR-3685	CLIP-seq
MIRT2364671	hsa-miR-378g	CLIP-seq
MIRT2144450	hsa-miR-384	CLIP-seq
MIRT2364672	hsa-miR-3936	CLIP-seq
MIRT2364673	hsa-miR-4286	CLIP-seq
MIRT2364674	hsa-miR-4437	CLIP-seq
MIRT2364675	hsa-miR-4459	CLIP-seq
MIRT2364676	hsa-miR-4659a-3p	CLIP-seq
MIRT2364677	hsa-miR-4659b-3p	CLIP-seq
MIRT2364678	hsa-miR-4674	CLIP-seq
MIRT1479817	hsa-miR-4699-3p	CLIP-seq
MIRT1479819	hsa-miR-4709-3p	CLIP-seq
MIRT2364679	hsa-miR-4726-3p	CLIP-seq
MIRT1479822	hsa-miR-4764-3p	CLIP-seq
MIRT2364680	hsa-miR-4778-5p	CLIP-seq
MIRT2364681	hsa-miR-4784	CLIP-seq
MIRT1479827	hsa-miR-500b	CLIP-seq
MIRT1479828	hsa-miR-501-5p	CLIP-seq
MIRT2364682	hsa-miR-548a-3p	CLIP-seq
MIRT2364683	hsa-miR-548an	CLIP-seq
MIRT2364684	hsa-miR-548e	CLIP-seq
MIRT2364685	hsa-miR-548f	CLIP-seq
MIRT1479836	hsa-miR-548g	CLIP-seq
MIRT2364686	hsa-miR-570	CLIP-seq
MIRT1479839	hsa-miR-590-3p	CLIP-seq
MIRT2364687	hsa-miR-616	CLIP-seq
MIRT2364688	hsa-miR-664	CLIP-seq
MIRT2364689	hsa-miR-765	CLIP-seq
MIRT2364690	hsa-miR-892a	CLIP-seq
MIRT2364666	hsa-miR-1915	CLIP-seq
MIRT2364670	hsa-miR-3150b-3p	CLIP-seq
MIRT1479803	hsa-miR-362-5p	CLIP-seq
MIRT2364675	hsa-miR-4459	CLIP-seq
MIRT2364676	hsa-miR-4659a-3p	CLIP-seq
MIRT2364677	hsa-miR-4659b-3p	CLIP-seq
MIRT2364679	hsa-miR-4726-3p	CLIP-seq
MIRT2364681	hsa-miR-4784	CLIP-seq
MIRT1479827	hsa-miR-500b	CLIP-seq
MIRT1479828	hsa-miR-501-5p	CLIP-seq
MIRT2364689	hsa-miR-765	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001917	Component	Photoreceptor inner segment	IDA	30573563
GO:0003407	Process	Neural retina development	ISS
GO:0004843	Function	Thiol-dependent ubiquitin-specific protease activity	IDA	14715245
GO:0004843	Function	Thiol-dependent ubiquitin-specific protease activity	IMP	25538220, 30258100
GO:0004843	Function	Thiol-dependent ubiquitin-specific protease activity	TAS
GO:0005515	Function	Protein binding	IPI	25538220, 30258100
GO:0005634	Component	Nucleus	IDA	25538220
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	25538220
GO:0006281	Process	DNA repair	IMP	25538220
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IEA
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016477	Process	Cell migration	IMP	30258100
GO:0016579	Process	Protein deubiquitination	IDA	14715245
GO:0016579	Process	Protein deubiquitination	IMP	25538220
GO:0018215	Process	Protein phosphopantetheinylation	IEA
GO:0045494	Process	Photoreceptor cell maintenance	ISS
GO:0070911	Process	Global genome nucleotide-excision repair	TAS

Other IDs

• MIM: 618439
• HGNC: 20080
• e!Ensembl: ENSG00000123552

Protein

• UniProt ID: Q70EL2
• Protein name: Ubiquitin carboxyl-terminal hydrolase 45 (EC 3.4.19.12) (Deubiquitinating enzyme 45) (Ubiquitin thioesterase 45) (Ubiquitin-specific-processing protease 45)
• Protein function: Catalyzes the deubiquitination of SPDL1 (PubMed:30258100). Plays a role in the repair of UV-induced DNA damage via deubiquitination of ERCC1, promoting its recruitment to DNA damage sites (PubMed:25538220). May be involved in the maintenance of
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02148	zf-UBP	61 → 139	Zn-finger in ubiquitin-hydrolases and other protein	Domain
  PF00443	UCH	190 → 810	Ubiquitin carboxyl-terminal hydrolase	Family

• Sequence:

  MRVKDPTKALPEKAKRSKRPTVPHDEDSSDDIAVGLTCQHVSHAISVNHVKRAIAENLWS
  VCSECLKERRFYDGQLVLTSDIWLCLKCGFQGCGKNSESQHSLKHFKSSRTEPHCIIINL
  STWIIWCYECDEKLSTHCNKKVLAQIVDFLQKHASKTQTSAFSRIMKLCEEKCETDEIQK
  GGKCRNLSVRGITNLGNTCFFNAVMQNLAQTYTLTDLMNEIKESSTKLKIFPSSDSQLDP
  LVVELSRPGPLTSALFLFLHSMKETEKGPLSPKVLFNQLCQKAPRFKDFQQQDSQELLHY
  LLDAVRTEETKRIQASILKAFNNPTTKTADDETRKKVKAYGKEGVKMNFIDRIFIGELTS
  TVMCEECANISTVKDPFIDISLPIIEERVSKPLLWGRMNKYRSLRETDHDRYSGNVTIEN
  IHQPRAAKKHSSSKDKSQLIHDRKCIRKLSSGETVTYQKNENLEMNGDSLMFASLMNSES
  RLNESPTDDSEKEASHSESNVDADSEPSESESASKQTGLFRSSSGSGVQPDGPLYPLSAG
  KLLYTKETDSGDKEMAEAISELRLSSTVTGDQDFDRENQPLNISNNLCFLEGKHLRSYSP
  QNAFQTLSQSYITTSKECSIQSCLYQFTSMELLMGNNKLLCENCTKNKQKYQEETSFAEK
  KVEGVYTNARKQLLISAVPAVLILHLKRFHQAGLSLRKVNRHVDFPLMLDLAPFCSATCK
  NASVGDKVLYGLYGIVEHSGSMREGHYTAYVKVRTPSRKLSEHNTKKKNVPGLKAADNES
  AGQWVHVSDTYLQVVPESRALSAQAYLLFYERVL

• Sequence length: 814

Pathways

KEGG:

Polycomb repressive complex

Reactome:

Formation of Incision Complex in GG-NER

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
Keratoconus	Keratoconus	rs273585637, rs273585632, rs273585616, rs273585618, rs281865144, rs281865150, rs1553500862, rs756938019
Leber congenital amaurosis	Leber Congenital Amaurosis	rs386834252, rs386834253, rs121918165, rs62635288, rs281865192, rs137852833, rs137852834, rs137852835, rs2137919146, rs267606719, rs80044281, rs386834241, rs75895925, rs386834243, rs750962965, rs28940313, rs386834261, rs104894470, rs28940314, rs104894471, rs104894474, rs104894475, rs104894476, rs28940315, rs104894472, rs104894473, rs387906272, rs121434337, rs202126574, rs137853124, rs397515360, rs1560870755, rs62637014, rs62637016, rs62635656, rs62635654, rs28939720, rs62635659, rs137853136, rs137853137, rs62636275, rs281865175, rs62638214, rs121908449, rs121909074, rs121909075, rs1581734819, rs104894673, rs61750420, rs61749755, rs61750172, rs61752895, rs61752871, rs121917744, rs61752909, rs121917745, rs386834260, rs121912554, rs781781440, rs62653011, rs61752904, rs62636300, rs387906835, rs387906836, rs387906837, rs2147483647, rs387906858, rs143607153, rs387907009, rs140287375, rs387907290, rs142968179, rs150726175, rs387907291, rs368062092, rs387907293, rs387907294, rs62645748, rs386834152, rs386834153, rs386834157, rs386834158, rs386834159, rs1401531865, rs386834239, rs61748449, rs62637010, rs142326926, rs267598278, rs398124354, rs61749676, rs61749679, rs61749683, rs63749078, rs61749758, rs61749759, rs61750161, rs281865410, rs61750168, rs61750179, rs61750183, rs61750184, rs61750185, rs61750187, rs281865408, rs61750188, rs61750189, rs281865411, rs61749668, rs61750194, rs63340060, rs61749670, rs281865409, rs63749076, rs61749671, rs61749663, rs61749673, rs61749674, rs281865520, rs61751276, rs61751281, rs62636295, rs62636298, rs62636299, rs61751282, rs61752865, rs62637006, rs62637007, rs62653015, rs281865292, rs61752866, rs61752873, rs62642583, rs62642584, rs61752875, rs61752877, rs61752880, rs61752882, rs61752883, rs61752884, rs61752888, rs61752891, rs61751277, rs61752896, rs61752899, rs281865289, rs61752903, rs61751279, rs61752905, rs61752906, rs61752908, rs61749423, rs61748446, rs281865515, rs281865517, rs62636511, rs281865168, rs281865171, rs281865166, rs140808549, rs62637009, rs61751266, rs61751268, rs61751271, rs61751265, rs62640580, rs62640570, rs62640581, rs62640574, rs62638179, rs281865187, rs62638180, rs281865189, rs62645750, rs62645754, rs62645746, rs62636264, rs62636266, rs62645755, rs62636267, rs62635653, rs62636269, rs62636270, rs62636271, rs62636273, rs281865173, rs62636274, rs62636276, rs62636278, rs281865174, rs62635649, rs62645752, rs79436363, rs527236099, rs114342808, rs527236126, rs587783009, rs587783010, rs535922252, rs587783012, rs587783013, rs587783015, rs587783016, rs587783017, rs587783018, rs587783019, rs773372519, rs786204787, rs762631020, rs786205148, rs786205149, rs786205150, rs748902766, rs767745816, rs786205550, rs786205623, rs786205630, rs863223341, rs766608755, rs192003551, rs370119681, rs758329611, rs797044761, rs794727952, rs794729650, rs863224862, rs863224884, rs771454167, rs756302731, rs749439750, rs780624853, rs863225189, rs727503855, rs758550675, rs751218423, rs869312175, rs869320631, rs767648174, rs878853362, rs747835249, rs371496675, rs878853360, rs878853392, rs878853341, rs878853338, rs878853339, rs878853385, rs764256655, rs371526758, rs886039871, rs886039911, rs780225183, rs886042220, rs886042360, rs115352681, rs201405662, rs760915898, rs886043587, rs183261547, rs116471343, rs61752902, rs1057518122, rs1057518922, rs1057518949, rs775796581, rs368088025, rs1057519136, rs1057520152, rs752175052, rs62636260, rs777464278, rs1064797182, rs1064797304, rs1085307972, rs62645747, rs1420672586, rs1553152989, rs794727166, rs1554347012, rs1555220638, rs1555222073, rs371609982, rs768028061, rs1556313552, rs1556313557, rs1555635550, rs369775002, rs145282040, rs1553261468, rs773914330, rs1553263218, rs757740068, rs199683808, rs1553128102, rs775978677, rs747653875, rs1553722736, rs766143193, rs866395428, rs781670422, rs776880045, rs565837539, rs1555302710, rs780667159, rs1555303320, rs1555635925, rs1271498710, rs763890649, rs1553260321, rs767030473, rs1191496583, rs778606847, rs766670248, rs758593134, rs1555635668, rs201587670, rs754768875, rs775935766, rs1349849938, rs374268850, rs1554786803, rs1554786802, rs1555370458, rs1369768287, rs760540562, rs751342895, rs1429786931, rs753697847, rs564754426, rs143745703, rs771266705, rs776698746, rs1553153243, rs1555302200, rs1192112844, rs776645403, rs757609119, rs1239043055, rs1327062642, rs192907397, rs121918844, rs1429137932, rs116733939, rs1395763356, rs1226324483, rs554396590, rs776289402, rs574936510, rs750889782, rs1569531639, rs776591659, rs747393487, rs764309755, rs772170760, rs75459701, rs1264794214, rs757823463, rs759940113, rs1237424465, rs1558057153, rs1558127317, rs745422941, rs988133284, rs1566674809, rs771116776, rs1006935198, rs61750171, rs768390959, rs1568626289, rs778627080, rs752263228, rs971610277, rs1567958644, rs1557595199, rs1030149008, rs777069665, rs1208703297, rs139305531, rs1592833648, rs150412614, rs759662695, rs372066126, rs781705903, rs1592726020, rs368489658, rs758001091, rs1598146589, rs1598149659, rs968692633, rs202240410, rs1597331616, rs748798324, rs1571848688, rs143511261, rs763324776, rs774130993, rs1268307330, rs781035395, rs747138345, rs749331348, rs1468942944, rs760415289, rs1290241933, rs759408031, rs1594867551, rs200387832, rs1598144694, rs746351112, rs1594865068, rs768255532, rs1290420698, rs1300041533, rs747512450, rs567890014, rs1571848166, rs1571848855, rs1571878277, rs1571523319, rs1571525145, rs745348555, rs1571557864, rs1450635782, rs1193631220, rs1571158755, rs1571164534, rs752058510, rs527236079, rs373680665, rs745704627, rs773968778, rs1581736024, rs1178243254, rs376500610, rs61751270, rs1594865036, rs749038454, rs1594865434, rs945734402, rs1599991538, rs1599991611, rs766631462, rs745871149, rs140257538, rs1182277140, rs1769845495, rs1571848744, rs768905244, rs1571540258, rs1571544281, rs1571172233, rs1581736099, rs1581740762, rs1581742633, rs1581743256, rs765473119, rs1588830568, rs1592784618, rs1420750126, rs1594867516, rs1468041544, rs775364986, rs1598149187, rs781725943, rs890453675, rs1581735836, rs1602071524, rs772794324, rs114630940, rs1641970512, rs751644763, rs748559081, rs1286660951, rs2040637111, rs752193525, rs45502896, rs1594202505, rs1594203796, rs1325103400, rs1594280740, rs1594180177, rs1592807018, rs201070350, rs768445391, rs1581742615, rs1594865064, rs778731851, rs1660503192, rs1660516364, rs369184026, rs768713412, rs1665487563, rs1667269806, rs34627040, rs375110174, rs748972748, rs1240302846, rs1766524422, rs748370008, rs1248460033, rs1033594764, rs1186821575, rs770126103, rs745741473, rs761231974, rs752242512, rs116649873, rs2038232008, rs2038232911, rs2038317129, rs2077123571, rs2077123914, rs374255033, rs781331005, rs2039659434, rs1167867158, rs1660515780, rs1664290387, rs866822473, rs963201816, rs1664325377, rs766411096, rs1664671663, rs1558138741, rs760544654, rs562037932, rs1444234037, rs771336246, rs751589956, rs1331834680, rs762633090, rs747257567, rs761167763, rs1163040913, rs2038196341, rs760813820, rs751589863, rs760287363, rs1645823028, rs1645824187, rs774309607, rs1015895028, rs1343680080, rs1660517678, rs765676754, rs1366609497, rs1413885352, rs201883601	30573563
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
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896

Unknown
Disease name	Disease term	dbSNP ID	References
Congenital cerebral hernia	Congenital cerebral hernia
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis
Malformation of cortical development	Malformations of Cortical Development, Group II