UCHL1 (ubiquitin C-terminal hydrolase L1)

Gene

• Entrez ID: 7345
• Gene name: Ubiquitin C-terminal hydrolase L1
• Gene symbol: UCHL1
• Synonyms: HEL-117, HEL-S-53, NDGOA, PARK5, PGP 9.5, PGP9.5, PGP95, SPG79, SPG79A, UCHL-1, Uch-L1
• Chromosome: 4
• Chromosome location: 4p13
• Summary: The protein encoded by this gene belongs to the peptidase C12 family. This enzyme is a thiol protease that hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin. This gene is specifically expressed in the neurons and in cells of the diffuse neu

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121917767	C>A,G,T	Risk-factor	Missense variant, coding sequence variant, synonymous variant
rs768996179	G>A	Pathogenic	Coding sequence variant, missense variant
rs1057519600	C>A	Pathogenic	Coding sequence variant, missense variant
rs1554004920	->AGAG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554004931	T>C,G	Likely-pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT048928	hsa-miR-92a-3p	CLASH	23622248
MIRT047324	hsa-miR-181a-5p	CLASH	23622248
MIRT041399	hsa-miR-193b-3p	CLASH	23622248
MIRT037262	hsa-miR-877-5p	CLASH	23622248
MIRT256053	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT256053	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1472391	hsa-miR-218	CLIP-seq
MIRT1472392	hsa-miR-4520a-3p	CLIP-seq
MIRT1472391	hsa-miR-218	CLIP-seq
MIRT2434435	hsa-miR-151-3p	CLIP-seq
MIRT2434436	hsa-miR-217	CLIP-seq
MIRT2434437	hsa-miR-3973	CLIP-seq
MIRT2434438	hsa-miR-4463	CLIP-seq
MIRT2434439	hsa-miR-4499	CLIP-seq
MIRT2434440	hsa-miR-518a-3p	CLIP-seq
MIRT2434441	hsa-miR-518b	CLIP-seq
MIRT2434442	hsa-miR-518c	CLIP-seq
MIRT2434443	hsa-miR-518d-3p	CLIP-seq
MIRT2434444	hsa-miR-518f	CLIP-seq
MIRT2434445	hsa-miR-562	CLIP-seq
MIRT2441599	hsa-miR-1228	CLIP-seq
MIRT2441600	hsa-miR-3136-3p	CLIP-seq
MIRT2441601	hsa-miR-3138	CLIP-seq
MIRT1472392	hsa-miR-4520a-3p	CLIP-seq
MIRT2441599	hsa-miR-1228	CLIP-seq
MIRT2441600	hsa-miR-3136-3p	CLIP-seq
MIRT2441601	hsa-miR-3138	CLIP-seq
MIRT1472392	hsa-miR-4520a-3p	CLIP-seq
MIRT2656826	hsa-miR-1184	CLIP-seq
MIRT2656827	hsa-miR-1205	CLIP-seq
MIRT2441599	hsa-miR-1228	CLIP-seq
MIRT2656828	hsa-miR-1254	CLIP-seq
MIRT2656829	hsa-miR-127-5p	CLIP-seq
MIRT2656830	hsa-miR-1278	CLIP-seq
MIRT2656831	hsa-miR-187	CLIP-seq
MIRT2656832	hsa-miR-197	CLIP-seq
MIRT1472391	hsa-miR-218	CLIP-seq
MIRT2656833	hsa-miR-298	CLIP-seq
MIRT2656834	hsa-miR-300	CLIP-seq
MIRT2656835	hsa-miR-302a	CLIP-seq
MIRT2656836	hsa-miR-302b	CLIP-seq
MIRT2656837	hsa-miR-302c	CLIP-seq
MIRT2656838	hsa-miR-302d	CLIP-seq
MIRT2656839	hsa-miR-302e	CLIP-seq
MIRT2656840	hsa-miR-3116	CLIP-seq
MIRT2441600	hsa-miR-3136-3p	CLIP-seq
MIRT2441601	hsa-miR-3138	CLIP-seq
MIRT2656841	hsa-miR-3150a-3p	CLIP-seq
MIRT2656842	hsa-miR-3158-5p	CLIP-seq
MIRT2656843	hsa-miR-3175	CLIP-seq
MIRT2656844	hsa-miR-3184	CLIP-seq
MIRT2656845	hsa-miR-342-3p	CLIP-seq
MIRT2656846	hsa-miR-346	CLIP-seq
MIRT2656847	hsa-miR-3617	CLIP-seq
MIRT2656848	hsa-miR-372	CLIP-seq
MIRT2656849	hsa-miR-373	CLIP-seq
MIRT2656850	hsa-miR-381	CLIP-seq
MIRT2434437	hsa-miR-3973	CLIP-seq
MIRT2656851	hsa-miR-3977	CLIP-seq
MIRT2656852	hsa-miR-412	CLIP-seq
MIRT2656853	hsa-miR-423-5p	CLIP-seq
MIRT2656854	hsa-miR-4271	CLIP-seq
MIRT2656855	hsa-miR-4288	CLIP-seq
MIRT2656856	hsa-miR-4455	CLIP-seq
MIRT2656857	hsa-miR-4457	CLIP-seq
MIRT2656858	hsa-miR-4474-3p	CLIP-seq
MIRT1472392	hsa-miR-4520a-3p	CLIP-seq
MIRT2656859	hsa-miR-4667-5p	CLIP-seq
MIRT2656860	hsa-miR-4700-5p	CLIP-seq
MIRT2656861	hsa-miR-4720-3p	CLIP-seq
MIRT2656862	hsa-miR-4724-5p	CLIP-seq
MIRT2656863	hsa-miR-4725-3p	CLIP-seq
MIRT2656864	hsa-miR-4747-5p	CLIP-seq
MIRT2656865	hsa-miR-4773	CLIP-seq
MIRT2656866	hsa-miR-4804-3p	CLIP-seq
MIRT2656867	hsa-miR-513b	CLIP-seq
MIRT2656868	hsa-miR-515-3p	CLIP-seq
MIRT2434440	hsa-miR-518a-3p	CLIP-seq
MIRT2434441	hsa-miR-518b	CLIP-seq
MIRT2434442	hsa-miR-518c	CLIP-seq
MIRT2434443	hsa-miR-518d-3p	CLIP-seq
MIRT2434444	hsa-miR-518f	CLIP-seq
MIRT2656869	hsa-miR-519a	CLIP-seq
MIRT2656870	hsa-miR-519b-3p	CLIP-seq
MIRT2656871	hsa-miR-519c-3p	CLIP-seq
MIRT2656872	hsa-miR-519e	CLIP-seq
MIRT2656873	hsa-miR-520a-3p	CLIP-seq
MIRT2656874	hsa-miR-520b	CLIP-seq
MIRT2656875	hsa-miR-520c-3p	CLIP-seq
MIRT2656876	hsa-miR-520d-3p	CLIP-seq
MIRT2656877	hsa-miR-520e	CLIP-seq
MIRT2656878	hsa-miR-550a	CLIP-seq
MIRT2434445	hsa-miR-562	CLIP-seq
MIRT2656879	hsa-miR-609	CLIP-seq
MIRT2656880	hsa-miR-632	CLIP-seq
MIRT2656881	hsa-miR-636	CLIP-seq
MIRT2656882	hsa-miR-641	CLIP-seq
MIRT2656883	hsa-miR-644	CLIP-seq
MIRT2656884	hsa-miR-661	CLIP-seq
MIRT2656885	hsa-miR-939	CLIP-seq
MIRT2441599	hsa-miR-1228	CLIP-seq
MIRT2656828	hsa-miR-1254	CLIP-seq
MIRT2656829	hsa-miR-127-5p	CLIP-seq
MIRT2656832	hsa-miR-197	CLIP-seq
MIRT1472391	hsa-miR-218	CLIP-seq
MIRT2656834	hsa-miR-300	CLIP-seq
MIRT2656835	hsa-miR-302a	CLIP-seq
MIRT2656836	hsa-miR-302b	CLIP-seq
MIRT2656837	hsa-miR-302c	CLIP-seq
MIRT2656838	hsa-miR-302d	CLIP-seq
MIRT2656839	hsa-miR-302e	CLIP-seq
MIRT2656840	hsa-miR-3116	CLIP-seq
MIRT2441600	hsa-miR-3136-3p	CLIP-seq
MIRT2441601	hsa-miR-3138	CLIP-seq
MIRT2656841	hsa-miR-3150a-3p	CLIP-seq
MIRT2656843	hsa-miR-3175	CLIP-seq
MIRT2656844	hsa-miR-3184	CLIP-seq
MIRT2656845	hsa-miR-342-3p	CLIP-seq
MIRT2656847	hsa-miR-3617	CLIP-seq
MIRT2656848	hsa-miR-372	CLIP-seq
MIRT2656849	hsa-miR-373	CLIP-seq
MIRT2656850	hsa-miR-381	CLIP-seq
MIRT2434437	hsa-miR-3973	CLIP-seq
MIRT2656851	hsa-miR-3977	CLIP-seq
MIRT2656852	hsa-miR-412	CLIP-seq
MIRT2656853	hsa-miR-423-5p	CLIP-seq
MIRT2656856	hsa-miR-4455	CLIP-seq
MIRT2656858	hsa-miR-4474-3p	CLIP-seq
MIRT1472392	hsa-miR-4520a-3p	CLIP-seq
MIRT2656859	hsa-miR-4667-5p	CLIP-seq
MIRT2656860	hsa-miR-4700-5p	CLIP-seq
MIRT2656861	hsa-miR-4720-3p	CLIP-seq
MIRT2656865	hsa-miR-4773	CLIP-seq
MIRT2656866	hsa-miR-4804-3p	CLIP-seq
MIRT2656868	hsa-miR-515-3p	CLIP-seq
MIRT2434440	hsa-miR-518a-3p	CLIP-seq
MIRT2434441	hsa-miR-518b	CLIP-seq
MIRT2434442	hsa-miR-518c	CLIP-seq
MIRT2434443	hsa-miR-518d-3p	CLIP-seq
MIRT2434444	hsa-miR-518f	CLIP-seq
MIRT2656869	hsa-miR-519a	CLIP-seq
MIRT2656870	hsa-miR-519b-3p	CLIP-seq
MIRT2656871	hsa-miR-519c-3p	CLIP-seq
MIRT2656872	hsa-miR-519e	CLIP-seq
MIRT2656873	hsa-miR-520a-3p	CLIP-seq
MIRT2656874	hsa-miR-520b	CLIP-seq
MIRT2656875	hsa-miR-520c-3p	CLIP-seq
MIRT2656876	hsa-miR-520d-3p	CLIP-seq
MIRT2656877	hsa-miR-520e	CLIP-seq
MIRT2656878	hsa-miR-550a	CLIP-seq
MIRT2434445	hsa-miR-562	CLIP-seq
MIRT2656879	hsa-miR-609	CLIP-seq
MIRT2656881	hsa-miR-636	CLIP-seq
MIRT2656882	hsa-miR-641	CLIP-seq
MIRT2656883	hsa-miR-644	CLIP-seq
MIRT2656884	hsa-miR-661	CLIP-seq
MIRT2656885	hsa-miR-939	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004197	Function	Cysteine-type endopeptidase activity	IDA	8639624
GO:0004843	Function	Thiol-dependent ubiquitin-specific protease activity	IBA	21873635
GO:0004843	Function	Thiol-dependent ubiquitin-specific protease activity	IDA	9521656
GO:0005515	Function	Protein binding	IPI	12082530, 16049941, 16169070, 19615732, 20029029, 21044950, 31980649, 32814053
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	19477270
GO:0005737	Component	Cytoplasm	ISS
GO:0005737	Component	Cytoplasm	TAS	16130169
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	19477270
GO:0008242	Function	Omega peptidase activity	IDA	9521656
GO:0016241	Process	Regulation of macroautophagy	TAS	24879150
GO:0016579	Process	Protein deubiquitination	IBA	21873635
GO:0016579	Process	Protein deubiquitination	IDA	9521656
GO:0016579	Process	Protein deubiquitination	TAS
GO:0016874	Function	Ligase activity	IEA
GO:0018215	Process	Protein phosphopantetheinylation	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	19725078
GO:0031694	Function	Alpha-2A adrenergic receptor binding	IPI	19477270
GO:0043130	Function	Ubiquitin binding	IDA	9521656
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	NAS	24252804
GO:0043407	Process	Negative regulation of MAP kinase activity	IDA	19477270

Other IDs

• MIM: 191342
• HGNC: 12513
• e!Ensembl: ENSG00000154277

Protein

• UniProt ID: P09936
• Protein name: Ubiquitin carboxyl-terminal hydrolase isozyme L1 (UCH-L1) (EC 3.4.19.12) (Neuron cytoplasmic protein 9.5) (PGP 9.5) (PGP9.5) (Ubiquitin thioesterase L1)
• Protein function: Deubiquitinase that plays a role in the regulation of several processes such as maintenance of synaptic function, cardiac function, inflammatory response or osteoclastogenesis (PubMed:22212137, PubMed:23359680). Abrogates the ubiquitination of m
• PDB: 2ETL, 2LEN, 3IFW, 3IRT, 3KVF, 3KW5, 4DM9, 4JKJ, 7ZM0, 8DY8, 8EDE, 8PW1, 8XI7
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01088	Peptidase_C12	3 → 206	Ubiquitin carboxyl-terminal hydrolase, family 1	Domain

• Sequence:

  MQLKPMEINPEMLNKVLSRLGVAGQWRFVDVLGLEEESLGSVPAPACALLLLFPLTAQHE
  NFRKKQIEELKGQEVSPKVYFMKQTIGNSCGTIGLIHAVANNQDKLGFEDGSVLKQFLSE
  TEKMSPEDRAKCFEKNEAIQAAHDAVAQEGQCRVDDKVNFHFILFNNVDGHLYELDGRMP
  FPVNHGASSEDTLLKDAAKVCREFTEREQGEVRFSAVALCKAA

• Sequence length: 223

Pathways

KEGG:

Parkinson disease
Pathways of neurodegeneration - multiple diseases

Reactome:

UCH proteinases

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Dysautonomia	Dysautonomia	rs111033171, rs137853022, rs28939712, rs754348901, rs749052963, rs1057517169, rs1057516865, rs763445509, rs767527819, rs781333644, rs1239081703, rs1554696574, rs539544212, rs1201626345, rs774890086, rs1554703061, rs1554703613, rs1319053366, rs1554703851, rs868073099, rs926177767, rs376078668, rs1554695299, rs1554696648, rs1554696934, rs1554699327, rs1554691572, rs1554695846, rs1554697001, rs770668926, rs1554698037, rs759412460, rs1554702142, rs765572951, rs1554702880, rs1554703831, rs760774999, rs1554696650, rs757972943, rs1554703874, rs1554703907, rs571348995
Esophagus neoplasm	Esophageal Neoplasms, Malignant neoplasm of esophagus	rs28934578, rs121918714, rs1567556006, rs1575166666	15930319
Gallbladder cancer	Malignant neoplasm of gallbladder	rs121913530, rs377767360, rs121913529, rs730882029, rs730882005, rs786202799, rs876659802, rs1057519718, rs764146326	16965602
Lung carcinoma	Non-Small Cell Lung Carcinoma	rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193	17094902
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Neurodegeneration-blindness-ataxia-spasticity syndrome	Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome	rs397515634, rs1057519600, rs746053679, rs1554004931
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Parkinson disease	PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, Young-onset Parkinson disease	rs116074753, rs118203903, rs118203904, rs115735611, rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs74315361, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121917767, rs121918104, rs1589451049, rs104893877, rs104893878, rs283413, rs112176450, rs111290936, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs387906942, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106	12705903, 10048490, 9774100, 12408865
Spastic paraplegia	Spastic Paraplegia, SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE	rs118204049, rs121918262, rs104894490, rs119476046, rs281865117, rs281865118, rs137853017, rs72554620, rs121908610, rs121908611, rs121908613, rs116171274, rs121434442, rs121434443, rs137852520, rs137852521, rs137852524, rs137852525, rs879253716, rs387906970, rs587776888, rs759947457, rs587776891, rs753426920, rs387907057, rs397514478, rs387907285, rs387907287, rs387907288, rs281865120, rs397514513, rs141431913, rs312262755, rs398123013, rs398123014, rs398122382, rs745744124, rs483352924, rs483352925, rs587777222, rs587779388, rs587783179, rs587783772, rs587784383, rs587784384, rs730882249, rs762947018, rs786204628, rs141315518, rs786204416, rs786204750, rs770866403, rs775059063, rs797044787, rs794729214, rs794729215, rs797045050, rs370828455, rs146262009, rs797045244, rs780247476, rs185246578, rs766773277, rs863224494, rs752669339, rs869320690, rs200737038, rs869312914, rs752283089, rs751713917, rs756205995, rs875989787, rs875989845, rs375817528, rs200440467, rs876661295, rs794727501, rs770285398, rs878854745, rs878854975, rs878855013, rs878855011, rs878855083, rs878853979, rs879255397, rs879255396, rs886039410, rs886039409, rs886039407, rs886039408, rs886039405, rs886039406, rs752598529, rs752059006, rs202199411, rs886041949, rs886041127, rs886042238, rs1057517123, rs747868017, rs1057517294, rs565203731, rs753205260, rs1057517002, rs779338945, rs755186798, rs1057517250, rs1057517060, rs753012964, rs758572409, rs1057516959, rs1057516438, rs145766983, rs1057516689, rs1057516932, rs1057516635, rs1057517366, rs759166250, rs1057517138, rs761089024, rs1057517297, rs1057517311, rs1057516779, rs1057517039, rs1057517285, rs1057516365, rs1057516625, rs1057516987, rs1057516837, rs1057518016, rs1057518880, rs1057518697, rs1057519289, rs1057519290, rs1057519291, rs1057519292, rs1057519293, rs1057521784, rs1060499756, rs1060499771, rs1060502224, rs1060502523, rs371019314, rs1060503431, rs774906736, rs372350326, rs776976178, rs370837940, rs1064793162, rs1064793920, rs1555177629, rs1555394376, rs377445018, rs767024102, rs768176054, rs1557090943, rs1557090161, rs1555178616, rs1555251539, rs754439135, rs1321353475, rs1555186937, rs767871841, rs867249938, rs1440541889, rs1555456727, rs1268722908, rs1557092247, rs1557092248, rs765632065, rs773246271, rs1554380391, rs1554517327, rs200268523, rs1156566314, rs1160357920, rs773182375, rs768366199, rs774809466, rs1555542889, rs915291720, rs1021034246, rs769676029, rs746979262, rs1033093801, rs955142329, rs760559263, rs1557091773, rs1372213267, rs1557091678, rs1402429085, rs1555179091, rs1555179087, rs374128662, rs142209254, rs1553259463, rs1555254256, rs755820725, rs1335804396, rs568176223, rs1555979596, rs780030221, rs1553314978, rs923921184, rs1556840029, rs374894037, rs1553262438, rs1555249362, rs950356390, rs1557091278, rs1557090220, rs1259615333, rs1555249276, rs1555249425, rs1555249479, rs1555249555, rs1555250949, rs1555252349, rs1167474602, rs1175545518, rs1555249648, rs1555249878, rs1400601705, rs1555252086, rs745907077, rs1555249371, rs1555249904, rs1555393393, rs1028098148, rs766711286, rs767164213, rs1470672632, rs1555252184, rs1224762841, rs769329153, rs1555254734, rs1555397331, rs941230062, rs545219731, rs200832994, rs1555250255, rs1240368715, rs1555393338, rs1049504575, rs1485209013, rs868672014, rs1214483973, rs558285072, rs1555398241, rs1186788102, rs981804211, rs935301743, rs1555251822, rs1555255676, rs369459721, rs772400670, rs1558119445, rs759033144, rs1565705251, rs1566055368, rs1566058677, rs1006060877, rs1448182827, rs1569544908, rs754944359, rs754944429, rs1569544723, rs1569285562, rs367916692, rs1566893090, rs1177577061, rs1566881181, rs1569280986, rs1590847310, rs746220436, rs1569281085, rs529495094, rs1563920268, rs1563920252, rs1563920172, rs1563919973, rs1563920000, rs1563920132, rs751568153, rs1569274606, rs1455411788, rs1571908452, rs768640920, rs1578729121, rs1585896928, rs1585808059, rs1588001500, rs1011987148, rs1594915468, rs1594925773, rs1361370524, rs1593121507, rs1365858851, rs1593125341, rs1181477970, rs1593129673, rs1593133395, rs1593133714, rs1593144167, rs1593144544, rs1593144887, rs767435985, rs1593147785, rs994374354, rs1593157923, rs1594900921, rs1594906944, rs1594910045, rs1594913346, rs1594930532, rs1594938339, rs140354725, rs1418885000, rs1603275195, rs1603276234, rs1574077569, rs1603275315, rs1587878722, rs1587879449, rs1593133607, rs770490672, rs1602099961, rs778722037, rs756830713, rs1593121484, rs763869212, rs1594912625, rs1597556143, rs778113360, rs377278120, rs933233143, rs1572337800, rs1573072864, rs1593125290, rs1593126754, rs1593123432, rs1571563769, rs1584514057, rs772704931, rs1587878961, rs1802811311, rs1052410160, rs1298132281, rs748480664, rs139015012, rs1340636078, rs927804920, rs1883405453, rs1883566609, rs1868403104, rs1868480299, rs1868481514, rs1868567420, rs1868626730, rs1868628768, rs1868872666, rs1869006331, rs769212398, rs757179309, rs2039098098, rs2039228359, rs774867891, rs2039613696, rs2039616151, rs2039786680, rs2039997721, rs748149642, rs2040215878, rs760484081, rs1204169977, rs367665974, rs201311640, rs1034820850, rs1930458591, rs1882179247, rs2039758874, rs1885117995, rs1805435464	28007905, 23359680, 10048490

Unknown
Disease name	Disease term	dbSNP ID	References
Abnormal male sexual function	Abnormal male sexual function
Anxiety disorder	Anxiety
Cerebellar atrophy	Cerebellar atrophy
Cerebral atrophy	Cerebral atrophy
Dementia of frontal lobe	Dementia of frontal lobe type
Dyskinetic syndrome	Dyskinetic syndrome
Female sexual dysfunction	Female sexual dysfunction
Neoplasm of gallbladder	gallbladder neoplasm		16965602
Gastroparesis	Gastroparesis
Hallucinations	Hallucinations
Liver carcinoma	Liver carcinoma		18666234
Male sexual dysfunction	Male sexual dysfunction
Mental depression	Depressive disorder	rs587778876, rs587778877
Nervous system diseases	Peripheral Nervous System Diseases		16797537
Panic disorder	Panic Attacks
Restless legs syndrome	Restless Legs Syndrome
Sensorimotor neuropathy	Sensorimotor neuropathy
Social communication disorder	Social Communication Disorder