Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
8878 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Sequestosome 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
SQSTM1 |
SynonymsGene synonyms aliases
|
A170, DMRV, EBIAP, FTDALS3, NADGP, OSIL, PDB3, ZIP3, p60, p62, p62B |
ChromosomeChromosome number
|
5 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
5q35.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
This gene encodes a multifunctional protein that binds ubiquitin and regulates activation of the nuclear factor kappa-B (NF-kB) signaling pathway. The protein functions as a scaffolding/adaptor protein in concert with TNF receptor-associated factor 6 to m |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs104893941 |
C>T |
Likely-pathogenic, pathogenic, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
rs200396166 |
C>G,T |
Pathogenic, likely-benign |
Intron variant, missense variant, coding sequence variant |
rs776749939 |
C>T |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
rs796051869 |
->T |
Pathogenic |
Coding sequence variant, stop gained |
rs796051870 |
G>A |
Pathogenic |
Splice donor variant |
rs796052213 |
A>T |
Pathogenic |
Coding sequence variant, stop gained |
rs796052214 |
GAA>- |
Uncertain-significance, pathogenic |
Coding sequence variant, inframe deletion |
rs886039780 |
T>A |
Pathogenic |
Initiator codon variant, intron variant, missense variant |
rs886039781 |
AG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs886039782 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
rs1064794783 |
->CGAGGCTGCGGCGGGTCCG |
Not-provided, likely-pathogenic |
Coding sequence variant, intron variant, frameshift variant |
rs1273214757 |
AG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1331685476 |
TCTG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Transcription factors
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000122 |
Process |
Negative regulation of transcription by RNA polymerase II |
IEA |
|
GO:0000407 |
Component |
Phagophore assembly site |
IEA |
|
GO:0000422 |
Process |
Autophagy of mitochondrion |
NAS |
20098416 |
GO:0000423 |
Process |
Mitophagy |
IBA |
21873635 |
GO:0000423 |
Process |
Mitophagy |
IGI |
20457763 |
GO:0000932 |
Component |
P-body |
IDA |
20357094 |
GO:0001934 |
Process |
Positive regulation of protein phosphorylation |
IEA |
|
GO:0002376 |
Process |
Immune system process |
IEA |
|
GO:0002931 |
Process |
Response to ischemia |
IEA |
|
GO:0004674 |
Function |
Protein serine/threonine kinase activity |
NAS |
8618896 |
GO:0005080 |
Function |
Protein kinase C binding |
IBA |
21873635 |
GO:0005080 |
Function |
Protein kinase C binding |
IPI |
14676191 |
GO:0005515 |
Function |
Protein binding |
IPI |
8618896, 8702753, 14676191, 16169070, 16189514, 16874300, 17389358, 17580304, 18083104, 19229298, 19250911, 19427866, 19615732, 20010802, 20168092, 20173742, 20357094, 20417604, 20452972, 20551902, 20562859, 20808283, 21149568, 21900206, 21988832, 22178386, 22190034, 22421968, 23274 |
GO:0005654 |
Component |
Nucleoplasm |
TAS |
|
GO:0005737 |
Component |
Cytoplasm |
IDA |
20168092 |
GO:0005739 |
Component |
Mitochondrion |
IEA |
|
GO:0005770 |
Component |
Late endosome |
IEA |
|
GO:0005776 |
Component |
Autophagosome |
IDA |
17580304, 19640926, 20168092, 22948227, 24954904 |
GO:0005783 |
Component |
Endoplasmic reticulum |
IEA |
|
GO:0005829 |
Component |
Cytosol |
IDA |
|
GO:0005829 |
Component |
Cytosol |
TAS |
8650207 |
GO:0006468 |
Process |
Protein phosphorylation |
IEA |
|
GO:0006511 |
Process |
Ubiquitin-dependent protein catabolic process |
TAS |
8702753 |
GO:0006914 |
Process |
Autophagy |
IDA |
20452972 |
GO:0006914 |
Process |
Autophagy |
IMP |
17580304 |
GO:0006914 |
Process |
Autophagy |
TAS |
19816510 |
GO:0006915 |
Process |
Apoptotic process |
IEA |
|
GO:0007032 |
Process |
Endosome organization |
IBA |
21873635 |
GO:0007032 |
Process |
Endosome organization |
IDA |
27368102 |
GO:0008104 |
Process |
Protein localization |
TAS |
8650207 |
GO:0008270 |
Function |
Zinc ion binding |
IEA |
|
GO:0010821 |
Process |
Regulation of mitochondrion organization |
NAS |
20890124 |
GO:0016197 |
Process |
Endosomal transport |
TAS |
12857745 |
GO:0016234 |
Component |
Inclusion body |
IDA |
20168092 |
GO:0016235 |
Component |
Aggresome |
IBA |
21873635 |
GO:0016236 |
Process |
Macroautophagy |
IMP |
20168092 |
GO:0016236 |
Process |
Macroautophagy |
ISS |
|
GO:0016236 |
Process |
Macroautophagy |
TAS |
|
GO:0016605 |
Component |
PML body |
IDA |
20168092 |
GO:0019899 |
Function |
Enzyme binding |
IPI |
27368102 |
GO:0019901 |
Function |
Protein kinase binding |
IDA |
8650207 |
GO:0030017 |
Component |
Sarcomere |
IEA |
|
GO:0030154 |
Process |
Cell differentiation |
IEA |
|
GO:0030971 |
Function |
Receptor tyrosine kinase binding |
TAS |
8650207 |
GO:0031397 |
Process |
Negative regulation of protein ubiquitination |
IDA |
20452972 |
GO:0031625 |
Function |
Ubiquitin protein ligase binding |
IDA |
27368102 |
GO:0031625 |
Function |
Ubiquitin protein ligase binding |
IPI |
25127057, 27368102 |
GO:0035255 |
Function |
Ionotropic glutamate receptor binding |
ISS |
|
GO:0035556 |
Process |
Intracellular signal transduction |
TAS |
8650207 |
GO:0035973 |
Process |
Aggrephagy |
IBA |
21873635 |
GO:0035973 |
Process |
Aggrephagy |
IPI |
28404643 |
GO:0042169 |
Function |
SH2 domain binding |
IDA |
8650207 |
GO:0042802 |
Function |
Identical protein binding |
IPI |
16169070, 20562859, 21900206, 25416956, 25686248, 32296183 |
GO:0043065 |
Process |
Positive regulation of apoptotic process |
TAS |
|
GO:0043066 |
Process |
Negative regulation of apoptotic process |
TAS |
|
GO:0043122 |
Process |
Regulation of I-kappaB kinase/NF-kappaB signaling |
IMP |
12857745 |
GO:0043130 |
Function |
Ubiquitin binding |
IDA |
12857745 |
GO:0043130 |
Function |
Ubiquitin binding |
TAS |
|
GO:0043231 |
Component |
Intracellular membrane-bounded organelle |
IDA |
|
GO:0044753 |
Component |
Amphisome |
IBA |
21873635 |
GO:0044753 |
Component |
Amphisome |
IDA |
19640926 |
GO:0044754 |
Component |
Autolysosome |
IDA |
19640926 |
GO:0044877 |
Function |
Protein-containing complex binding |
IEA |
|
GO:0045944 |
Process |
Positive regulation of transcription by RNA polymerase II |
TAS |
12857745 |
GO:0046578 |
Process |
Regulation of Ras protein signal transduction |
NAS |
8618896 |
GO:0061635 |
Process |
Regulation of protein complex stability |
IDA |
25127057 |
GO:0061912 |
Process |
Selective autophagy |
IMP |
22622177 |
GO:0070062 |
Component |
Extracellular exosome |
HDA |
19056867 |
GO:0070498 |
Process |
Interleukin-1-mediated signaling pathway |
TAS |
|
GO:0070530 |
Function |
K63-linked polyubiquitin modification-dependent protein binding |
IBA |
21873635 |
GO:0070530 |
Function |
K63-linked polyubiquitin modification-dependent protein binding |
IDA |
28404643 |
GO:0097225 |
Component |
Sperm midpiece |
IEA |
|
GO:0097413 |
Component |
Lewy body |
IEA |
|
GO:0098780 |
Process |
Response to mitochondrial depolarisation |
IGI |
20457763 |
GO:1900273 |
Process |
Positive regulation of long-term synaptic potentiation |
ISS |
|
GO:1903078 |
Process |
Positive regulation of protein localization to plasma membrane |
ISS |
|
GO:1905719 |
Process |
Protein localization to perinuclear region of cytoplasm |
IDA |
27368102 |
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
Q13501 |
Protein name |
Sequestosome-1 (EBI3-associated protein of 60 kDa) (EBIAP) (p60) (Phosphotyrosine-independent ligand for the Lck SH2 domain of 62 kDa) (Ubiquitin-binding protein p62) (p62) |
Protein function |
Molecular adapter required for selective macroautophagy (aggrephagy) by acting as a bridge between polyubiquitinated proteins and autophagosomes (PubMed:15340068, PubMed:15953362, PubMed:16286508, PubMed:17580304, PubMed:20168092, PubMed:2201787 |
PDB |
1Q02
,
2JY7
,
2JY8
,
2K0B
,
2KNV
,
4MJS
,
4UF8
,
4UF9
,
5YP7
,
5YP8
,
5YPA
,
5YPB
,
5YPC
,
5YPE
,
5YPF
,
5YPG
,
5YPH
,
6JM4
,
6KHZ
,
6MJ7
,
6TGY
,
6TH3
,
7R1O
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00564 |
PB1 |
21 → 102 |
PB1 domain |
Domain |
PF00569 |
ZZ |
122 → 165 |
Zinc finger, ZZ type |
Domain |
PF16577 |
UBA_5 |
379 → 440 |
UBA domain |
Domain |
|
Sequence |
|
Sequence length |
440 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
|
|
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Alzheimer disease |
Alzheimer`s Disease |
rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs145518263, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316 |
24162737 |
Amyotrophic lateral sclerosis |
Amyotrophic Lateral Sclerosis, Amyotrophic Lateral Sclerosis, Guam Form |
rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733, rs80356731, rs80356726, rs267606928, rs267606929, rs1885090126, rs121434591, rs121912431, rs121912432, rs121912433, rs121912434, rs121912435, rs121912440, rs121912436, rs121912437, rs121912438, rs121912439, rs74315452, rs121912442, rs121912443, rs121912444, rs121912446, rs121912447, rs1197141604, rs121912448, rs121912449, rs121912450, rs121912451, rs121912452, rs121912453, rs121912454, rs369600566, rs121912455, rs121912456, rs121912457, rs121912458, rs1555836889, rs121909667, rs121909668, rs121909669, rs121909671, rs121909535, rs121909537, rs121909538, rs121909539, rs121909540, rs121909542, rs121909544, rs80356734, rs367543041, rs80356740, rs80356719, rs80356721, rs80356723, rs80356725, rs387906627, rs387906628, rs387906709, rs387906710, rs387906711, rs387906829, rs387907264, rs387907265, rs387907266, rs312262739, rs312262709, rs312262749, rs200793464, rs147713329, rs312262788, rs397514262, rs63751180, rs587777132, rs730880025, rs730880026, rs730880027, rs368743618, rs730880029, rs730882255, rs730882256, rs786205611, rs121912441, rs199947197, rs780136067, rs772731615, rs879253926, rs879254294, rs764717219, rs886041390, rs750159428, rs753207473, rs267607087, rs767350733, rs778305085, rs1554707680, rs1554707622, rs1393363759, rs750959420, rs1555509569, rs1554716504, rs11556620, rs1247392012, rs142083484, rs140385286, rs749428135, rs371575563, rs1402429085, rs1218712729, rs1555179091, rs1555179087, rs746971952, rs1555836950, rs368276916, rs140376902, rs747220413, rs76731700, rs770684782, rs1200906022, rs1804449, rs1482760341, rs769898852, rs140599944, rs757972700, rs1555451521, rs1592362719, rs1555836803, rs763455928, rs1378590183, rs1583695322, rs1362178149, rs1197928094, rs368751524, rs1555509609, rs1574787779, rs1601157750, rs1301635320, rs1341055534, rs1402092579, rs1568809172, rs1555836170, rs1315541036, rs1339283341, rs1643659556, rs1644506661, rs1435710212, rs1553122918, rs1689580631, rs374047961, rs775935265, rs2076486420, rs1820836522, rs757260058, rs1844420892, rs1833371664, rs1833438306, rs1833451208, rs2083790483, rs1303294230, rs1226110412, rs2053207945, rs2053208751, rs2053501632, rs2053539304, rs1567479067, rs544088874, rs1228194239, rs1568807400, rs1169198442, rs2049594204, rs2049594311, rs1568810641, rs1568811372, rs2049618449, rs1476760624, rs2079347087 |
23303844, 24085347, 24138988, 22084127, 19765191, 19765191 |
Apraxia |
Apraxias |
rs121908377, rs121908378, rs1135401820, rs1178491246, rs1584969672 |
|
Cerebellar ataxia |
Progressive cerebellar ataxia |
rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887 |
|
Distal myopathy |
Distal myopathy, Welander type |
rs398123028, rs140614802, rs559454746, rs769542442, rs1572140109 |
|
Frontotemporal dementia |
Frontotemporal dementia |
rs63751273, rs63750376, rs63750424, rs63750972, rs1568327531, rs63750570, rs63750756, rs63751165, rs63750512, rs63751438, rs63750912, rs63750711, rs63750635, rs63750349, rs63750092, rs63749801, rs63751399, rs199476352, rs63751035, rs63749974, rs63750568, rs63750013, rs63751394, rs63750308, rs63751011, rs63750095, rs794729672, rs794729669, rs63749817, rs794729670, rs193026789, rs794729671, rs1085307051, rs1566630811, rs1566630884, rs1567885658, rs1567886206, rs1567886445, rs1567886478, rs1567887015, rs1567887777, rs1567888461, rs1566630791, rs1598408073, rs1570725499, rs1598408336 |
|
Frontotemporal dementia with or without amyotrophic lateral sclerosis |
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 |
rs63751126, rs63750355, rs121909334, rs387906789, rs387906790, rs281864934, rs63750652, rs587777574, rs143561967, rs876657404, rs876657405, rs876657406, rs755950225, rs767898276, rs748112833, rs863225291, rs886040872, rs886040888, rs1555204731, rs1565814492, rs1328949478, rs1592362719, rs1592350883, rs1592350887, rs1341055534, rs1402092579, rs1284582102 |
19589897, 23417734, 25114083, 24042580, 24899140, 11992264, 21515589, 18765443, 25241215, 15493999, 21195346, 22084127, 23942205 |
Age-related macular degeneration |
Age related macular degeneration |
rs2133900556, rs199474657, rs2274700, rs1410996, rs61750120, rs1800728, rs62654397, rs61749423, rs61751412, rs61749439, rs61751398, rs61752417, rs62645946, rs1801269, rs62646860, rs61750142, rs61750145, rs61750152, rs61751377, rs61753029, rs61751407, rs61751389, rs61750645, rs61750648, rs879255520, rs752147871, rs886044750, rs886044749, rs746541266, rs756840095, rs886044725, rs749526785, rs1057518955, rs1057518767, rs371489809, rs1064793014, rs1571264574, rs1659524475 |
23922739 |
Neurodegeneration with ataxia, dystonia, and gaze palsy |
NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET |
rs886039780, rs886039781, rs886039782 |
|
Nystagmus |
Nystagmus |
rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896 |
|
Paget disease |
NON RARE IN EUROPE: Paget disease of bone, Osteitis Deformans, PAGET DISEASE OF BONE 2, EARLY-ONSET, PAGET DISEASE OF BONE 3 |
rs796051862, rs796051869, rs796051870, rs796052213, rs1555767678, rs869025582 |
23417734, 26208961, 12374763, 26627873, 17129171, 15146436, 12374763, 15765181, 19589897, 15176995, 15647816, 14584883, 24042580, 26713335, 18765443, 19931284, 11992264, 21195346, 15125799, 24899140, 18543015, 25241215, 23417734, 15207768, 16813535, 23942205, 21878516, 19257822, 21437228, 20499339, 15493999, 21515589, 17229007 |
Parkinson disease |
Parkinsonian Disorders |
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 |
|
Seizure |
Tonic - clonic seizures |
rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130 |
|
Welander distal myopathy |
Welander Distal Myopathy, Welander distal myopathy, Swedish type |
rs747068278 |
29457785 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Abulia |
Abulia |
|
|
Amyotrophic lateral sclerosis with dementia |
Amyotrophic Lateral Sclerosis With Dementia |
|
19765191 |
Amyotrophy |
Generalized amyotrophy |
|
|
Anxiety disorder |
Anxiety |
|
|
Behavioral variant of frontotemporal dementia |
Behavioral variant of frontotemporal dementia |
|
24042580 |
Bulbar palsy |
Bulbar palsy |
|
|
Cerebral cortical atrophy |
Cerebral cortical atrophy |
|
|
Compulsive hoarding |
Compulsive hoarding |
|
|
Dysarthria |
Dysarthria |
|
|
Dyscalculia |
Dyscalculia |
|
|
Dysgraphia |
Dysgraphia |
|
|
Dyslexia |
Dyslexia |
|
|
Dysphagia |
Deglutition Disorders |
|
|
Dysphasia |
Dysphasia |
|
|
Facial paralysis |
Facial paralysis |
|
|
Frontotemporal cerebral atrophy |
Frontotemporal cerebral atrophy |
|
|
Frontotemporal dementia with motor neuron disease |
Frontotemporal Dementia With Motor Neuron Disease |
|
24042580, 12374763, 26627873, 26208961, 17129171, 23417734 |
Hallucinations |
Hallucinations |
|
|
Inclusion body myopathy |
NONAKA MYOPATHY |
rs17885240, rs61757385, rs2237857, rs4986939, rs11272867, rs587118, rs11078850, rs532528005, rs532445930, rs184152880, rs886063891, rs879074973, rs45537335, rs139621607, rs375199452, rs376738763, rs377674160, rs769463886, rs573872374, rs200217946, rs141764966, rs150566222, rs201784718, rs886052569, rs116419997, rs886052571, rs886052573, rs371123671, rs138470281, rs886052565, rs780067831, rs754150715, rs563146441, rs765877777, rs148217318, rs886052574, rs886052575, rs886052567, rs753547111, rs374743981, rs200732220, rs138265883, rs756255059, rs778226679, rs886052572, rs74967762 |
26208961 |
Language disorders |
Language Disorders |
|
|
Laryngospasm |
Laryngospasm |
|
|
Mental depression |
Depressive disorder |
rs587778876, rs587778877 |
|
Mood swings |
Mood swings |
|
|
Oculomotor apraxia |
Oculomotor apraxia |
|
|
Oculovestibuloauditory syndrome |
Oculovestibuloauditory syndrome |
|
|
Osteosarcoma |
Osteosarcoma |
|
21437228, 12374763 |
Psychosis |
Psychotic Disorders |
|
|
Ptosis |
Blepharoptosis, Ptosis |
rs139920573 |
|
Respiratory failure |
Respiratory Failure |
|
|
Sensorineural hearing loss |
Sensorineural hearing loss, bilateral |
|
|
Stereotyped behavior |
Stereotyped Behavior |
|
|
Supranuclear gaze palsy |
Vertical supranuclear gaze palsy |
|
|
|
|
|