PRKCG (protein kinase C gamma)

Gene

• Entrez ID: 5582
• Gene name: Protein kinase C gamma
• Gene symbol: PRKCG
• Synonyms (NCBI Gene): PKC-gamma, PKCC, PKCG, PKCI(3), PKCgamma, SCA14
• Disease Acronyms (UniProt): SCA14
• Chromosome: 19
• Chromosome location: 19q13.42
• Summary: Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in d

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs78437096	T>A,C,G	Benign, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs121918511	C>T	Pathogenic	Coding sequence variant, missense variant
rs121918512	T>C	Pathogenic	Coding sequence variant, missense variant
rs121918513	G>A	Pathogenic	Coding sequence variant, missense variant
rs121918514	G>A	Pathogenic	Coding sequence variant, missense variant
rs121918515	A>G	Pathogenic	Coding sequence variant, missense variant
rs121918516	T>C	Pathogenic	Coding sequence variant, missense variant
rs121918517	A>C,G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs121918518	C>G	Pathogenic	Coding sequence variant, missense variant
rs386134157	A>G	Pathogenic	Missense variant, coding sequence variant
rs386134158	G>C	Pathogenic	Missense variant, coding sequence variant
rs386134159	G>T	Pathogenic	Missense variant, coding sequence variant
rs386134160	T>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs386134161	ACACAA>-	Pathogenic	Coding sequence variant, inframe deletion
rs386134162	G>A	Pathogenic	Missense variant, coding sequence variant
rs386134163	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs386134164	G>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs386134165	G>A	Pathogenic	Missense variant, coding sequence variant
rs386134166	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs386134167	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs386134168	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs386134169	C>A	Pathogenic	Missense variant, coding sequence variant
rs386134170	GC>TT	Pathogenic	Missense variant, coding sequence variant
rs386134171	G>A	Pathogenic	Missense variant, coding sequence variant
rs387906679	G>T	Pathogenic	Coding sequence variant, missense variant
rs797045900	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1303074743	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1406338491	G>A,T	Likely-pathogenic	Splice donor variant
rs1555806333	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555808841	GTAATCTCACCCGCCGCCACTAGGTGTCCCCAACGTCCCCTCCGCCGTGCCGGCGGCAGCCCCACTTCACCCCCAACTTCACCACCCCCTGTCCCATTCTAG>-	Pathogenic	Stop lost, terminator codon variant, splice donor variant, inframe indel, intron variant, 3 prime UTR variant, splice acceptor variant
rs1599938631	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1599943097	C>A	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017708	hsa-miR-335-5p	Microarray	18185580
MIRT1263248	hsa-miR-3150b-3p	CLIP-seq
MIRT1263249	hsa-miR-4779	CLIP-seq
MIRT1263250	hsa-miR-4784	CLIP-seq
MIRT1263251	hsa-miR-765	CLIP-seq
MIRT1552563	hsa-miR-1243	CLIP-seq
MIRT1552564	hsa-miR-1281	CLIP-seq
MIRT1552565	hsa-miR-3654	CLIP-seq
MIRT1263249	hsa-miR-4779	CLIP-seq
MIRT1263251	hsa-miR-765	CLIP-seq
MIRT1552563	hsa-miR-1243	CLIP-seq
MIRT1552564	hsa-miR-1281	CLIP-seq
MIRT2077475	hsa-miR-1324	CLIP-seq
MIRT1552565	hsa-miR-3654	CLIP-seq
MIRT2077476	hsa-miR-4475	CLIP-seq
MIRT1263249	hsa-miR-4779	CLIP-seq
MIRT2077477	hsa-miR-615-3p	CLIP-seq
MIRT1263251	hsa-miR-765	CLIP-seq
MIRT1263248	hsa-miR-3150b-3p	CLIP-seq
MIRT2457162	hsa-miR-4693-3p	CLIP-seq
MIRT1263250	hsa-miR-4784	CLIP-seq
MIRT1263251	hsa-miR-765	CLIP-seq
MIRT1263248	hsa-miR-3150b-3p	CLIP-seq
MIRT2457162	hsa-miR-4693-3p	CLIP-seq
MIRT1263250	hsa-miR-4784	CLIP-seq
MIRT1263251	hsa-miR-765	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004672	Function	Protein kinase activity	IDA	15808853
GO:0004674	Function	Protein serine/threonine kinase activity	IBA	21873635
GO:0004697	Function	Protein kinase C activity	TAS	3755548
GO:0004698	Function	Calcium-dependent protein kinase C activity	IEA
GO:0004712	Function	Protein serine/threonine/tyrosine kinase activity	IDA	22797923
GO:0005515	Function	Protein binding	IPI	22939624, 31980649, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	ISS
GO:0005911	Component	Cell-cell junction	IEA
GO:0006468	Process	Protein phosphorylation	TAS	3755548
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007611	Process	Learning or memory	IEA
GO:0007635	Process	Chemosensory behavior	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0016310	Process	Phosphorylation	IDA	15808853
GO:0018105	Process	Peptidyl-serine phosphorylation	IBA	21873635
GO:0030168	Process	Platelet activation	TAS
GO:0030425	Component	Dendrite	ISS
GO:0031397	Process	Negative regulation of protein ubiquitination	IDA	15808853
GO:0032095	Process	Regulation of response to food	ISS
GO:0032425	Process	Positive regulation of mismatch repair	IDA	15808853
GO:0035556	Process	Intracellular signal transduction	IBA	21873635
GO:0042177	Process	Negative regulation of protein catabolic process	IDA	15808853
GO:0042752	Process	Regulation of circadian rhythm	ISS
GO:0043278	Process	Response to morphine	ISS
GO:0043524	Process	Negative regulation of neuron apoptotic process	ISS
GO:0044305	Component	Calyx of Held	IEA
GO:0046777	Process	Protein autophosphorylation	IEA
GO:0048265	Process	Response to pain	ISS
GO:0048471	Component	Perinuclear region of cytoplasm	ISS
GO:0048511	Process	Rhythmic process	IEA
GO:0050764	Process	Regulation of phagocytosis	IEA
GO:0060384	Process	Innervation	IEA
GO:0097060	Component	Synaptic membrane	IEA
GO:0099171	Process	Presynaptic modulation of chemical synaptic transmission	IEA
GO:0099523	Component	Presynaptic cytosol	IEA
GO:0099524	Component	Postsynaptic cytosol	IEA
GO:1901799	Process	Negative regulation of proteasomal protein catabolic process	ISS
GO:1990911	Process	Response to psychosocial stress	IEA
GO:2000300	Process	Regulation of synaptic vesicle exocytosis	IEA

Other IDs

• MIM: 176980
• HGNC: 9402
• e!Ensembl: ENSG00000126583

Protein

• UniProt ID: P05129
• Protein name: Protein kinase C gamma type (PKC-gamma) (EC 2.7.11.13)
• Protein function: Calcium-activated, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that plays diverse roles in neuronal cells and eye tissues, such as regulation of the neuronal receptors GRIA4/GLUR4 and GRIN1/NMDAR1, modulation
• PDB: 2E73, 2UZP
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00130	C1_1	36 → 88	Phorbol esters/diacylglycerol binding domain (C1 domain)	Domain
  PF00130	C1_1	101 → 153	Phorbol esters/diacylglycerol binding domain (C1 domain)	Domain
  PF00168	C2	171 → 277	C2 domain	Domain
  PF00069	Pkinase	351 → 613	Protein kinase domain	Domain
  PF00433	Pkinase_C	639 → 675	Protein kinase C terminal domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in Purkinje cells of the cerebellar cortex. {ECO:0000269|PubMed:12644968}.
• Sequence:

  MAGLGPGVGDSEGGPRPLFCRKGALRQKVVHEVKSHKFTARFFKQPTFCSHCTDFIWGIG
  KQGLQCQVCSFVVHRRCHEFVTFECPGAGKGPQTDDPRNKHKFRLHSYSSPTFCDHCGSL
  LYGLVHQGMKCSCCEMNVHRRCVRSVPSLCGVDHTERRGRLQLEIRAPTADEIHVTVGEA
  RNLIPMDPNGLSDPYVKLKLIPDPRNLTKQKTRTVKATLNPVWNETFVFNLKPGDVERRL
  SVEVWDWDRTSRNDFMGAMSFGVSELLKAPVDGWYKLLNQEEGEYYNVPVADADNCSLLQ
  KFEACNYPLELYERVRMGPSSSPIPSPSPSPTDPKRCFFGASPGRLHISDFSFLMVLGKG
  SFGKVMLAERRGSDELYAIKILKKDVIVQDDDVDCTLVEKRVLALGGRGPGGRPHFLTQL
  HSTFQTPDRLYFVMEYVTGGDLMYHIQQLGKFKEPHAAFYAAEIAIGLFFLHNQGIIYRD
  LKLDNVMLDAEGHIKITDFGMCKENVFPGTTTRTFCGTPDYIAPEIIAYQPYGKSVDWWS
  FGVLLYEMLAGQPPFDGEDEEELFQAIMEQTVTYPKSLSREAVAICKGFLTKHPGKRLGS
  GPDGEPTIRAHGFFRWIDWERLERLEIPPPFRPRPCGRSGENFDKFFTRAAPALTPPDRL
  VLASIDQADFQGFTYVNPDFVHPDARSPTSPVPVPVM

• Sequence length: 697

Pathways

KEGG:

EGFR tyrosine kinase inhibitor resistance
MAPK signaling pathway
ErbB signaling pathway
Ras signaling pathway
Rap1 signaling pathway
Calcium signaling pathway
HIF-1 signaling pathway
Phosphatidylinositol signaling system
Sphingolipid signaling pathway
mTOR signaling pathway
Vascular smooth muscle contraction
Wnt signaling pathway
VEGF signaling pathway
Focal adhesion
Gap junction
Neutrophil extracellular trap formation
Natural killer cell mediated cytotoxicity
Fc gamma R-mediated phagocytosis
Leukocyte transendothelial migration
Circadian entrainment
Long-term potentiation
Retrograde endocannabinoid signaling
Glutamatergic synapse
Cholinergic synapse
Serotonergic synapse
GABAergic synapse
Dopaminergic synapse
Long-term depression
Inflammatory mediator regulation of TRP channels
Insulin secretion
Melanogenesis
Thyroid hormone synthesis
Thyroid hormone signaling pathway
Oxytocin signaling pathway
Aldosterone synthesis and secretion
Parathyroid hormone synthesis, secretion and action
GnRH secretion
Growth hormone synthesis, secretion and action
Aldosterone-regulated sodium reabsorption
Endocrine and other factor-regulated calcium reabsorption
Salivary secretion
Gastric acid secretion
Pancreatic secretion
Spinocerebellar ataxia
Pathways of neurodegeneration - multiple diseases
Amphetamine addiction
Morphine addiction
African trypanosomiasis
Amoebiasis
Hepatitis B
Human cytomegalovirus infection
Human immunodeficiency virus 1 infection
Coronavirus disease - COVID-19
Pathways in cancer
Proteoglycans in cancer
MicroRNAs in cancer
Chemical carcinogenesis - receptor activation
Glioma
Non-small cell lung cancer
Hepatocellular carcinoma
Choline metabolism in cancer
Diabetic cardiomyopathy

Reactome:

Calmodulin induced events
Disinhibition of SNARE formation
Trafficking of GluR2-containing AMPA receptors
WNT5A-dependent internalization of FZD4
Response to elevated platelet cytosolic Ca2+

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Spinocerebellar ataxia	Ataxia, Spinocerebellar, Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia Type 4, Spinocerebellar Ataxia Type 5, Spinocerebellar Ataxia Type 6 (disorder), Spinocerebellar Ataxia Type 7, Spinocerebellar ataxia 14, Spinocerebellar ataxia type 14	rs80356538, rs80356539, rs56144125, rs28937887, rs80356544, rs80356540, rs80356542, rs1941485201, rs121918306, rs151344520, rs151344519, rs151344521, rs151344523, rs151344512, rs193922926, rs104894393, rs587776685, rs121908216, rs121908215, rs121908217, rs121909326, rs121918511, rs121918512, rs121918513, rs121918514, rs121918515, rs121918516, rs121918517, rs121918518, rs1555808841, rs104894699, rs104894700, rs121912425, rs121913123, rs267606939, rs201486601, rs387906679, rs151344514, rs151344515, rs151344517, rs387907033, rs387907089, rs794726680, rs761213683, rs794726681, rs1555779353, rs151344513, rs151344518, rs151344522, rs397514535, rs397514536, rs318240735, rs386134171, rs386134158, rs386134159, rs386134160, rs386134161, rs386134162, rs386134163, rs386134164, rs386134165, rs386134166, rs386134168, rs386134170, rs386134169, rs146859515, rs373728971, rs397515475, rs397515476, rs587777052, rs121908247, rs121908200, rs398122959, rs587777127, rs587777128, rs587777235, rs587777340, rs587777341, rs587777342, rs587777344, rs587777345, rs587777346, rs587777347, rs587780326, rs587777670, rs587777671, rs606231451, rs606231452, rs540331226, rs144272231, rs690016544, rs727502823, rs372250159, rs793888526, rs876657385, rs869320748, rs876657386, rs786205229, rs876657387, rs774694340, rs786205867, rs794727411, rs797044955, rs797044872, rs797045634, rs797045240, rs765592794, rs797045900, rs748445058, rs863223919, rs765987297, rs863224882, rs753611141, rs869025292, rs869025293, rs755221106, rs869312685, rs751181600, rs886037832, rs875989881, rs372245668, rs879255601, rs876657414, rs752281590, rs879253883, rs1114167316, rs879255651, rs879255653, rs879255654, rs886039392, rs540839115, rs886039762, rs201128942, rs886041279, rs531656357, rs1057519453, rs1057519454, rs573267388, rs1057519561, rs200277996, rs1064795856, rs749320057, rs750331613, rs1131692265, rs761564262, rs1555768154, rs1210764379, rs758937084, rs1555475283, rs1555475375, rs760424025, rs1555806333, rs1554308513, rs1554274719, rs1554317158, rs201920319, rs1553724533, rs1554985851, rs768831597, rs1554986345, rs1555755878, rs1554902760, rs368143665, rs1555370787, rs1322796318, rs1553756062, rs772345347, rs149905705, rs1555475794, rs760752847, rs1555781806, rs1555738369, rs1554986337, rs1184563885, rs1553758021, rs1559718601, rs1206950481, rs1568523843, rs748984540, rs1557539450, rs1557541619, rs771145682, rs1564808324, rs1567283195, rs752352896, rs1557794465, rs547792505, rs193922929, rs1571636501, rs1571636508, rs1571939827, rs1571939905, rs1559603328, rs1562374476, rs1599651549, rs1590020571, rs1598832526, rs1575415900, rs779142717, rs781016340, rs1366090807, rs1579319300, rs1311909367, rs1589625941, rs749656742, rs1317590341, rs1599943097, rs1590955348, rs749679347, rs1590911156, rs1395191127, rs1405576707, rs541484241, rs1598820860, rs1598832568, rs1589611043, rs758809498, rs754446573	20398063, 17659643, 29053796, 15313841, 12644968, 29603387, 12164726
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019
Cerebellar ataxia	Progressive cerebellar ataxia	rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887
Mental retardation	Profound Mental Retardation, Mental deficiency, 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	21937992
Nystagmus	Nystagmus, Nystagmus, End-Position	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896

Unknown
Disease term	Disease name	Evidence	References	Source
Mental depression	Depressive disorder			ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Altitude Sickness	Associate	36803152
Ataxia	Associate	22675081, 24030952, 29603387, 32338350, 33739604, 34292398
Breast Neoplasms	Associate	33962648
Calcinosis Cutis	Associate	25252845
Carcinogenesis	Associate	37773536
Carcinoma Hepatocellular	Associate	36672978
Carcinoma Non Small Cell Lung	Associate	16801349
Carcinoma Renal Cell	Associate	20459627
Cerebellar Ataxia	Associate	12644968, 22675081, 29603387, 37101238, 38072404
Cerebellar Diseases	Associate	33739604
Cognition Disorders	Associate	29603387, 33739604
Colorectal Neoplasms	Associate	20188713
Developmental Disabilities	Associate	33739604
Dystonia	Associate	29603387, 33739604
Episodic Ataxia	Associate	34292398
Fractures Spontaneous	Associate	32338350
Frontotemporal Lobar Degeneration	Associate	20886841
Glioblastoma	Associate	29393370
Glioma	Associate	32539851
Graves Ophthalmopathy	Associate	36056316
Hypoxia Brain	Associate	36803152
Infarction	Associate	9583183
Inflammation	Associate	32986378
Ischemia	Stimulate	9583183
Kidney Diseases	Associate	37773536
Myoclonus	Associate	29603387
Nasopharyngeal Carcinoma	Associate	32986378
Nasopharyngitis	Associate	32986378
Neoplasms	Associate	24117238, 25663494, 26388441, 36672978, 37474004, 37773536, 8434650
Neurodegenerative Diseases	Associate	30249303, 37551632
Neurologic Manifestations	Associate	12644968
Optic Neuropathy Ischemic	Stimulate	9583183
Osteosarcoma	Associate	25252845, 25663494
Ovarian Neoplasms	Associate	36672978
Pallidopyramidal syndrome	Associate	29603387
Pancreatic Neoplasms	Associate	20581473
Paraneoplastic Cerebellar Degeneration	Associate	16801349
Paraparesis Spastic	Associate	34292398
Peripheral Nervous System Diseases	Associate	29603387
Pierre Robin Syndrome	Stimulate	34445196
Severe Acute Respiratory Syndrome	Stimulate	36803152
Spinocerebellar Ataxia 11	Associate	32338350, 33739604, 37301203
Spinocerebellar ataxia 14	Associate	16291902, 29603387, 30249303, 32338350, 33739604, 34292398, 37101238, 38072404
Spinocerebellar Ataxias	Associate	12644968, 37551632
Spinocerebellar Degenerations	Associate	12644968, 24030952, 34445196
Stomach Neoplasms	Associate	12046066
White Dot Syndromes	Associate	32338350