UCHL1 (ubiquitin C-terminal hydrolase L1)

Gene

• Entrez ID: 7345
• Gene name: Ubiquitin C-terminal hydrolase L1
• Gene symbol: UCHL1
• Synonyms (NCBI Gene): HEL-117, HEL-S-53, NDGOA, PARK5, PGP 9.5, PGP9.5, PGP95, SPG79, SPG79A, UCHL-1, Uch-L1
• Disease Acronyms (UniProt): PARK5, SPG79A
• 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

• Tissue specificity: TISSUE SPECIFICITY: Found in neuronal cell bodies and processes throughout the neocortex (at protein level). Expressed in neurons and cells of the diffuse neuroendocrine system and their tumors. Weakly expressed in ovary. Down-regulated in brains from Par
• Sequence:

  MQLKPMEINPEMLNKVLSRLGVAGQWRFVDVLGLEEESLGSVPAPACALLLLFPLTAQHE
  NFRKKQIEELKGQEVSPKVYFMKQTIGNSCGTIGLIHAVANNQDKLGFEDGSVLKQFLSE
  TEKMSPEDRAKCFEKNEAIQAAHDAVAQEGQCRVDDKVNFHFILFNNVDGHLYELDGRMP
  FPVNHGASSEDTLLKDAAKVCREFTEREQGEVRFSAVALCKAA

• Sequence length: 223

Pathways

KEGG:

Parkinson disease
Pathways of neurodegeneration - multiple diseases

Reactome:

UCH proteinases

Associated diseases

Causal
Disease term	Disease name	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	rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121918104, rs1589451049, rs104893877, rs104893878, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, 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 term	Disease name	Evidence	References	Source
Mental depression	Depressive disorder			ClinVar
Spastic Paraplegia	spastic paraplegia 79A, autosomal dominant, with ataxia			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	35546675
Adenomyosis	Associate	37884924
Airway Obstruction	Associate	34915763
Alzheimer Disease	Inhibit	14722078, 22726800
Alzheimer Disease	Associate	21298373, 21878121, 22532456, 32560738, 33754896, 34556089, 37454217
Amebiasis	Associate	28765971
Amyotrophic Lateral Sclerosis	Associate	31072331
Astrocytoma	Associate	37390278
Ataxia	Associate	35986737
Atrial myxoma familial	Associate	1531423
Behr syndrome	Associate	32656641
Berylliosis	Associate	2139099
Bipolar Disorder	Associate	39600279
Brain Concussion	Associate	29969943, 38643415
Brain Injuries	Associate	25516911
Brain Injuries Traumatic	Stimulate	19726976
Brain Injuries Traumatic	Associate	29969943, 35028617, 38643415
Breast Neoplasms	Associate	16734731, 18949367, 23996067, 26722437, 28636190
Breast Neoplasms	Inhibit	22279545
Burkitt Lymphoma	Associate	20187292
Calcinosis Cutis	Associate	24854489
Carcinogenesis	Associate	26823707, 28688920
Carcinoma Ductal	Associate	24996968
Carcinoma Ductal Breast	Associate	24996968
Carcinoma Hepatocellular	Associate	29627846
Carcinoma Large Cell	Associate	31845438
Carcinoma Neuroendocrine	Associate	12925987
Carcinoma Non Small Cell Lung	Associate	10487828, 16965602, 26245297, 32539182
Carcinoma Pancreatic Ductal	Associate	18820670
Carcinoma Renal Cell	Associate	39520970
Carcinoma Small Cell	Associate	2986665, 35400238
Carcinoma Squamous Cell	Associate	15736404, 21878121, 31370144
Carcinosarcoma	Stimulate	39520970
Cardiomyopathy Hypertrophic	Associate	32656641
Cataract	Associate	21268678
Cerebral Hemorrhage	Associate	36128917
Charcot Marie Tooth Disease	Associate	38549004
Cognitive Dysfunction	Stimulate	32560738
Colorectal Neoplasms	Associate	19035297, 21480205
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	28392346
COVID 19	Associate	33971585
COVID 19	Stimulate	34504487
Crohn Disease	Associate	2530154
Cystic Fibrosis	Associate	20147297
Death	Associate	19726976
Diffuse Neurofibrillary Tangles with Calcification	Associate	14722078
Disease	Associate	2530154
Dysmenorrhea	Associate	37884924
Dyspareunia	Associate	32240297
Endometrial Neoplasms	Associate	29489474, 32486284
Endometriosis	Stimulate	25047272
Endometriosis	Associate	32240297, 37405438
Enhanced S Cone Syndrome	Associate	35452181
Epilepsy Post Traumatic	Associate	29188495
Epstein Barr Virus Infections	Associate	21504384, 31370144
Epstein Barr Virus Infections	Stimulate	24314660
Esophageal Neoplasms	Associate	19472401, 35382656
Esophageal Squamous Cell Carcinoma	Associate	15736404, 16965602
Gallbladder Neoplasms	Associate	16965602, 19035297, 25066711
Gallstones	Associate	16965602
Ganglioneuroblastoma	Associate	30359286
Ganglioneuroma	Associate	30359286
Gastro enteropancreatic neuroendocrine tumor	Associate	24854489
Genetic Diseases Inborn	Associate	35986737
Glioma	Associate	28472177, 32572885
Glioma	Stimulate	31449350
Glomerulonephritis IGA	Associate	39696012
Hematologic Neoplasms	Stimulate	31449350
Hepatitis C	Stimulate	28667290
Hereditary Breast and Ovarian Cancer Syndrome	Associate	22279545
Hirschsprung Disease	Associate	11854929
Hodgkin Disease	Associate	2675617, 8966716
Hypoxia Brain	Inhibit	15491288
Hypoxia Brain	Associate	31480453
Infections	Stimulate	24314660
Infectious Mononucleosis	Associate	1672270
Inflammation	Associate	11755293, 2139099
Insulinoma	Stimulate	23959334
Insulinoma	Associate	28526880
Intervertebral Disc Degeneration	Inhibit	36267810
Intraabdominal Infections	Associate	31480453
Irritable Bowel Syndrome	Associate	29358881
Leiomyoma	Associate	22849656, 36830563
Leiomyosarcoma	Associate	11570907
Leprosy	Associate	22510739
Leprosy Lepromatous	Associate	14736767
Lichen Sclerosus et Atrophicus	Associate	28820401
Lung Diseases	Stimulate	31449350
Lung Neoplasms	Stimulate	10487828, 19116456, 25516911
Lung Neoplasms	Associate	15491288, 26245297, 28688920, 31845438
Lymphatic Metastasis	Associate	19035297, 26550574, 26722437, 35400238
Lymphatic Metastasis	Stimulate	32572885
Lymphoma	Associate	21504384, 24314660
Lymphoma B Cell	Associate	21504384
Melanoma	Associate	28392346
Mesothelioma	Associate	39520970
Mitochondrial Diseases	Associate	36267810
Mouth Diseases	Stimulate	37884924
Mucopolysaccharidosis III	Stimulate	10487828
Multiple Myeloma	Associate	15491288, 34257568, 9771441
Muscle Spasticity	Associate	35986737
Myotilinopathy	Associate	17823282
Myxoma	Associate	1531423
Nasopharyngeal Carcinoma	Associate	20473931
Neoplasm Invasiveness	Associate	31370144
Neoplasm Metastasis	Associate	23996067, 26722437, 29489474, 37815895, 39520970
Neoplasm Metastasis	Inhibit	24854489
Neoplasm Metastasis	Stimulate	26018507, 32572885
Neoplasms	Associate	10487828, 1331003, 14982996, 1531423, 16207477, 16537382, 16965602, 18843024, 19035297, 20187292, 21504384, 21878121, 23959334, 23996067, 24086249, 24314660, 24854489, 24996968, 25516911, 26447864, 26550574, 26722437, 28472177, 28636190, 29489474, 29627846, 31228945, 31370144, 31729096, 31845438, 32486284, 33416152, 34398824, 35546675, 37390278, 37815895, 39520970
Neoplasms	Stimulate	16734731, 26245297, 26823707, 31449350
Neoplasms	Inhibit	18512240, 22279545
Neoplasms Squamous Cell	Associate	15736404
Nervous System Diseases	Associate	35986737
Neuroblastoma	Associate	18520032, 30359286, 9192981, 9591338
Neurodegenerative Diseases	Associate	16537382, 23359680, 31072331, 32656641, 33028204, 35986737, 38185323
Neuroendocrine Tumors	Associate	1331003, 28526880
Neurofibrosarcoma	Associate	11570907
Neurologic Manifestations	Associate	21878121, 33028204
Neurothekeoma	Associate	12641790
NOG Related Symphalangism Spectrum Disorder	Associate	32360491
Non functioning pancreatic endocrine tumor	Associate	23959334
Nose Diseases	Associate	33919374
Obesity	Associate	23975165
Optic Atrophy	Associate	35986737
Osteoporosis	Associate	20949132
Ovarian Neoplasms	Associate	24086249, 39520970
Pain	Associate	19368910, 19535047, 25047272, 30152246
Pancreatic Intraductal Neoplasms	Associate	18820670
Parathyroid Neoplasms	Associate	34697069
Parkinson Disease	Inhibit	14722078, 17203291
Parkinson Disease	Associate	15718234, 16537382, 20439756, 21268678, 21298373, 21345711, 21412835, 21875422, 21878121, 22135858, 22839974, 24742361, 25516911, 28765971, 32486284, 33028204, 35482760
Peripheral Nervous System Diseases	Associate	30152246
Personality Disorders	Associate	23996067
Pigmentation Disorders	Associate	28392346
Rectal Neoplasms	Associate	25516911
Salivary Gland Neoplasms	Associate	20520817
Sarcoma	Associate	11570907
Sarcoma Synovial	Associate	11570907
Sjogren's Syndrome	Associate	30863411
Skin Diseases	Associate	1673877
Small Cell Lung Carcinoma	Associate	10487828, 31845438
Small Fiber Neuropathy	Associate	32723684, 33527742
Spastic Ataxia	Associate	35986737
Spastic paraplegia type 5A recessive	Associate	35986737
Spinocerebellar Ataxias	Inhibit	24667781
Squamous Cell Carcinoma of Head and Neck	Associate	18512240, 34398824
Stomach Neoplasms	Associate	26018507, 26550574, 26823707, 39520970
Tachycardia Atrioventricular Nodal Reentry	Associate	39520970
Trauma Nervous System	Associate	34504487, 36128917
Triple Negative Breast Neoplasms	Associate	31101122
Urinary Bladder Neoplasms	Associate	18843024, 33096258, 37815895, 39520970