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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Proteostasis Deficiencies
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Accession:DOID:9000842 term browser browse the term
Definition:Disorders caused by imbalances in the protein homeostasis network - synthesis, folding, and transport of proteins; post-translational modifications; and degradation or clearance of misfolded proteins.
Synonyms:exact_synonym: Protein Folding Disease;   Protein Folding Diseases;   Protein Folding Disorder;   Protein Folding Disorders;   Protein Misfolding Disease;   Protein Misfolding Diseases;   Protein Misfolding Disorder;   Protein Misfolding Disorders;   Proteostasis Deficiency;   Proteostasis Dysfunction;   Proteostasis Dysfunctions
 primary_id: MESH:D057165;   RDO:0004817
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Proteostasis Deficiencies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ngly1 N-glycanase 1 IMP RGD PMID:32259258 RGD:39457703 NCBI chr15:10,405,453...10,455,973
Ensembl chr15:10,405,164...10,455,956
JBrowse link
Amyloid Angiopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:31939705 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
JBrowse link
Amyloid Neuropathies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dusp1 dual specificity phosphatase 1 ISO mRNA, protein:decreased expression:salivary gland, nerve RGD PMID:16515552 RGD:7771547 NCBI chr10:16,970,642...16,973,425
Ensembl chr10:16,970,626...16,973,418
JBrowse link
G Ttr transthyretin ISO RGD PMID:15793844 RGD:1580527 NCBI chr18:15,532,963...15,542,180
Ensembl chr18:15,532,963...15,540,177
JBrowse link
amyloidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ache acetylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23047022 NCBI chr12:22,472,358...22,477,052
Ensembl chr12:22,472,358...22,478,753
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO associated with Periodic fever, familial, autosomal dominant;protein:increased expression:serum RGD PMID:22935190 RGD:8694455 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Amyloid disease ClinVar PMID:23861362, PMID:25741868, PMID:28492532 NCBI chr 4:27,195,346...27,331,582
Ensembl chr 4:27,195,346...27,331,582
JBrowse link
G Apcs amyloid P component, serum ISO RGD PMID:12015594 RGD:1300286 NCBI chr13:91,426,621...91,427,417
Ensembl chr13:91,426,479...91,427,575
JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:15993987 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23541064 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Amyloidosis ClinVar PMID:25741868, PMID:28492532 NCBI chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
JBrowse link
G Csf1 colony stimulating factor 1 ISO associated with Kidney Failure, Chronic RGD PMID:12038073 RGD:7257581 NCBI chr 2:210,522,370...210,550,546
Ensembl chr 2:210,522,375...210,550,560
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 treatment ISO human protein in a rat model RGD PMID:28390893 RGD:13504835 NCBI chr 1:263,246,248...263,269,762
Ensembl chr 1:263,246,248...263,269,762
JBrowse link
G Gpr143 G protein-coupled receptor 143 ISO ClinVar Annotator: match by term: Amyloid disease ClinVar PMID:30311386 NCBI chr  X:23,668,363...23,693,162
Ensembl chr  X:23,668,363...23,693,162
JBrowse link
G Gsn gelsolin ISO ClinVar Annotator: match by term: Amyloidosis
ClinVar Annotator: match by term: Amyloid disease
ClinVar PMID:30311386 NCBI chr 3:14,456,106...14,508,922
Ensembl chr 3:14,467,330...14,508,911
JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Amyloid disease ClinVar PMID:30311386 NCBI chr 1:163,001,313...163,071,545
Ensembl chr 1:163,001,875...163,071,508
JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Amyloid disease ClinVar PMID:24033266, PMID:30311386 NCBI chr20:14,952,213...15,334,745
Ensembl chr20:14,952,213...15,334,745
JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Amyloid disease ClinVar PMID:30311386 NCBI chr 4:96,659,062...96,810,816
Ensembl chr 4:96,659,084...96,812,263
JBrowse link
G Psen1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23541064 NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
JBrowse link
G Rapgef3 Rap guanine nucleotide exchange factor 3 ISO protein:increased expression:heart (mouse) RGD PMID:24721545 RGD:9835365 NCBI chr 7:139,232,263...139,254,668
Ensembl chr 7:139,232,251...139,254,551
JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO associated with Familial Mediterranean Fever;DNA: DNA:polymorphism:promoter:rs1799768 (human): RGD PMID:23052617 RGD:13207414 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Amyloid disease ClinVar PMID:23861362, PMID:24375709, PMID:25741868, PMID:28074886, PMID:28492532, PMID:30327538 NCBI chr 7:31,847,412...31,872,416
Ensembl chr 7:31,847,410...31,872,423
JBrowse link
G Tnf tumor necrosis factor ISO associated with Arthritis, Rheumatoid RGD PMID:14613268 RGD:10450570 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO associated with Arthritis, Rheumatoid RGD PMID:14613268 RGD:10450570 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
G Ttr transthyretin ISO CTD Direct Evidence: marker/mechanism CTD PMID:25595224, PMID:15536615 RGD:1580528 NCBI chr18:15,532,963...15,542,180
Ensembl chr18:15,532,963...15,540,177
JBrowse link
G Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20548961 NCBI chr 1:104,106,211...104,145,045
Ensembl chr 1:104,106,245...104,145,044
JBrowse link
amyotrophic lateral sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adarb1 adenosine deaminase, RNA-specific, B1 ISO
ISS
mRNA:decreased expression:motor neuron: MouseDO PMID:20372915, PMID:22226999 RGD:10755336, RGD:13432092 NCBI chr20:11,972,352...12,101,022
Ensembl chr20:11,972,381...12,101,047
JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO protein:increased expression:skeletal muscle RGD PMID:18273716 RGD:5509081 NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
JBrowse link
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 susceptibility ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868, PMID:28492532, PMID:28832565, PMID:11586297 RGD:1599080 NCBI chr 9:65,961,361...66,034,396
Ensembl chr 9:65,961,346...66,033,871
JBrowse link
G Ang angiogenin no_association ISO DNA:mutations:multiple
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
DNA:missense mutations
DNA:missense mutation, SNPs: :p.I46V, rs11701, rs2228653 (human)
protein:increased expression:cerebrospinal fluid
ClinVar PMID:25741868, PMID:22190368, PMID:16501576, PMID:17462671, PMID:19177252 RGD:6892707, RGD:6892718, RGD:6892716, RGD:6892713 NCBI chr15:28,022,926...28,028,636 JBrowse link
G Aox1 aldehyde oxidase 1 ISO RGD PMID:7570184 RGD:734575 NCBI chr 9:64,929,682...65,007,872
Ensembl chr 9:64,929,721...65,007,870
JBrowse link
G Apoe apolipoprotein E severity ISO DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human) RGD PMID:8899655 RGD:12880359 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Aqp4 aquaporin 4 IEP mRNA, protein:increased expression:spinal cord
protein:increased expression:brainstem
RGD PMID:19089902, PMID:22987392 RGD:5490153, RGD:8662893 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
JBrowse link
G Atg5 autophagy related 5 ISO mRNA:increased expression:spinal cord RGD PMID:23851366 RGD:11561951 NCBI chr20:49,301,783...49,393,147
Ensembl chr20:49,318,308...49,393,140
JBrowse link
G Atox1 antioxidant 1 copper chaperone disease_progression ISO protein:increased expression:spinal chord RGD PMID:19656261 RGD:13524567 NCBI chr10:40,790,850...40,805,886
Ensembl chr10:40,790,845...40,805,941
JBrowse link
G Atxn2 ataxin 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD
ClinVar
PMID:25741868, PMID:27377857 NCBI chr12:40,264,601...40,335,637
Ensembl chr12:40,266,662...40,332,612
JBrowse link
G Bad BCL2-associated agonist of cell death disease_progression ISO RGD PMID:10582606 RGD:13506907 NCBI chr 1:222,198,516...222,207,459
Ensembl chr 1:222,198,534...222,207,453
JBrowse link
G Bak1 BCL2-antagonist/killer 1 treatment ISO RGD PMID:20890041 RGD:13506803 NCBI chr20:5,609,620...5,618,899
Ensembl chr20:5,609,625...5,618,260
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment
disease_progression
severity
ISO RGD PMID:24699224, PMID:10582606, PMID:20195368, PMID:20890041, PMID:21193837 RGD:13506797, RGD:13506907, RGD:13506805, RGD:13506803, RGD:13506800 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bcl2 BCL2, apoptosis regulator disease_progression ISO RGD PMID:10582606 RGD:13506907 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Bcl2l1 Bcl2-like 1 treatment
disease_progression
IMP
ISO
RGD PMID:18543336, PMID:10582606 RGD:13506902, RGD:13506907 NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
JBrowse link
G Becn1 beclin 1 ISO mRNA:increased expression:spinal cord RGD PMID:23851366 RGD:11561951 NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
JBrowse link
G Bid BH3 interacting domain death agonist ISO RGD PMID:29440992 RGD:13506949 NCBI chr 4:153,439,812...153,465,247
Ensembl chr 4:153,442,218...153,465,203
JBrowse link
G Bnip3l BCL2 interacting protein 3 like ISO RGD PMID:29440992 RGD:13506949 NCBI chr15:43,643,897...43,667,123
Ensembl chr15:43,643,897...43,667,029
JBrowse link
G Bptf bromodomain PHD finger transcription factor ISO mRNA,protein:increased expression:spinal cord: RGD PMID:9225734 RGD:9586057 NCBI chr10:95,248,573...95,350,162
Ensembl chr10:95,250,294...95,349,789
JBrowse link
G C3 complement C3 IEP RGD PMID:19050293 RGD:5130169 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G C5ar1 complement C5a receptor 1 IMP RGD PMID:19050293 RGD:5130169 NCBI chr 1:78,186,777...78,195,132
Ensembl chr 1:78,186,776...78,195,328
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
JBrowse link
G Calca calcitonin-related polypeptide alpha ISO RGD PMID:21964254 RGD:5684010 NCBI chr 1:184,184,018...184,188,922
Ensembl chr 1:184,184,020...184,188,911
JBrowse link
G Camk1g calcium/calmodulin-dependent protein kinase IG ISO CTD Direct Evidence: marker/mechanism CTD PMID:23624525 NCBI chr13:112,075,689...112,099,472
Ensembl chr13:112,075,690...112,099,336
JBrowse link
G Casp12 caspase 12 IEP protein:increased activity:spinal cord RGD PMID:16847061 RGD:2311466 NCBI chr 8:2,658,892...2,686,160
Ensembl chr 8:2,659,865...2,686,160
JBrowse link
G Casp3 caspase 3 IEP protein:increased activity:spinal cord RGD PMID:16847061 RGD:2311466 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Casp9 caspase 9 IEP protein:increased activity:spinal cord RGD PMID:16847061 RGD:2311466 NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 disease_progression ISO protein:increased expression:plasma:
protein:decreased expression:monocyte:
RGD PMID:16857270, PMID:16857270 RGD:8657363, RGD:8657363
G Ccs copper chaperone for superoxide dismutase treatment ISO RGD PMID:26826269 RGD:13524551 NCBI chr 1:220,075,251...220,096,319
Ensembl chr 1:220,075,247...220,096,404
JBrowse link
G Cd40lg CD40 ligand ISO CTD Direct Evidence: therapeutic CTD PMID:20348957, PMID:20348957 RGD:5490547 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cdk5 cyclin-dependent kinase 5 ISO RGD PMID:11343650 RGD:734741 NCBI chr 4:7,282,945...7,287,427
Ensembl chr 4:7,282,948...7,288,383
JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD
ClinVar
PMID:25741868, PMID:27455348 NCBI chr20:11,417,428...11,424,301
Ensembl chr20:11,417,429...11,424,324
JBrowse link
G Chmp2b charged multivesicular body protein 2B ISO DNA:mutations:cds:Q206H, I29V (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:16807408, PMID:16807408 RGD:5688711 NCBI chr11:2,666,405...2,692,213
Ensembl chr11:2,665,285...2,692,198
JBrowse link
G Chrna3 cholinergic receptor nicotinic alpha 3 subunit ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 8:59,594,007...59,607,122
Ensembl chr 8:59,592,403...59,607,275
JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:7895015, PMID:18479385, PMID:22036597, PMID:25741868, PMID:28492532, PMID:29454195 NCBI chr 3:176,533,182...176,547,965
Ensembl chr 3:176,527,516...176,548,208
JBrowse link
G Chrnb4 cholinergic receptor nicotinic beta 4 subunit ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 8:59,610,489...59,629,073
Ensembl chr 8:59,609,693...59,629,133
JBrowse link
G Cntf ciliary neurotrophic factor susceptibility ISO RGD PMID:11951178 RGD:734796 NCBI chr 1:229,599,009...229,601,032
Ensembl chr 1:229,599,009...229,601,032
JBrowse link
G Ctsh cathepsin H ISO mRNA, protein:increased expression:spinal cord RGD PMID:17583678 RGD:5686391 NCBI chr 8:97,439,155...97,458,293
Ensembl chr 8:97,439,161...97,458,287
JBrowse link
G Dao D-amino-acid oxidase ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr12:48,353,691...48,373,647
Ensembl chr12:48,354,196...48,365,784
JBrowse link
G Dbr1 debranching RNA lariats 1 ISO CTD Direct Evidence: therapeutic CTD PMID:23104007 NCBI chr 8:107,826,690...107,838,186
Ensembl chr 8:107,826,424...107,838,339
JBrowse link
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to ClinVar PMID:15326253, PMID:16240349, PMID:17824900, PMID:18812314, PMID:19506225, PMID:22777741, PMID:23143281, PMID:25025039, PMID:25382069, PMID:25741868, PMID:26429889, PMID:26467025, PMID:26662454, PMID:27132499, PMID:28130640, PMID:28430856, PMID:28492532, PMID:28717666 NCBI chr 4:114,876,770...114,896,567
Ensembl chr 4:114,876,770...114,896,573
JBrowse link
G Ddx20 DEAD-box helicase 20 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 2:208,144,142...208,154,764
Ensembl chr 2:208,144,139...208,152,179
JBrowse link
G Dnajc7 DnaJ heat shock protein family (Hsp40) member C7 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr10:88,498,271...88,533,730
Ensembl chr10:88,498,238...88,533,829
JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO protein:decreased expression:mitochondrion: RGD PMID:24399935 RGD:9589066 NCBI chr 6:28,205,375...28,346,052
Ensembl chr 6:28,235,695...28,340,577
JBrowse link
G Dpp6 dipeptidyl peptidase like 6 no_association ISO DNA:SNP:intron:rs10260404 (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:18084291, PMID:18708572, PMID:20137488 RGD:5687188, RGD:5687181 NCBI chr 4:4,021,021...4,943,675
Ensembl chr 4:4,021,008...4,473,307
JBrowse link
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 ISO protein:increased expression:spinal cord RGD PMID:12675919 RGD:2301741 NCBI chr 6:1,428,845...1,466,193
Ensembl chr 6:1,428,834...1,466,201
JBrowse link
G Elp3 elongator acetyltransferase complex subunit 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr15:48,942,866...49,005,074
Ensembl chr15:48,942,871...49,005,058
JBrowse link
G Epg5 ectopic P-granules autophagy protein 5 homolog ISS MouseDO NCBI chr18:74,299,965...74,397,115
Ensembl chr18:74,299,931...74,395,547
JBrowse link
G Epo erythropoietin disease_progression ISO protein:decreased expression:cerebrospinal fluid RGD PMID:17368721 RGD:10395391 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868, PMID:28492532 NCBI chr 9:75,021,790...76,178,936
Ensembl chr 9:75,021,790...75,528,644
JBrowse link
G Ewsr1 EWS RNA-binding protein 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr14:85,322,105...85,350,826
Ensembl chr14:85,322,296...85,350,948
JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:17572665, PMID:18180444, PMID:18261132, PMID:18556664, PMID:19118816, PMID:20630877, PMID:21655088, PMID:21705420, PMID:22131434, PMID:22998443, PMID:23489662, PMID:24878229, PMID:25510381, PMID:25617005, PMID:25741868, PMID:26467025, PMID:28051077, PMID:28492532, PMID:30311386 NCBI chr20:45,922,806...46,044,754
Ensembl chr20:45,922,806...46,044,738
JBrowse link
G Fus FUS RNA binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:30455313, PMID:22055719, PMID:21408206 RGD:5509900, RGD:9685710 NCBI chr 1:199,412,805...199,426,705
Ensembl chr 1:199,412,834...199,426,702
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO mRNA:increased expression:skeletal muscle RGD PMID:10447463 RGD:6218978 NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11723166 NCBI chr10:90,990,762...90,999,435
Ensembl chr10:90,990,762...90,999,506
JBrowse link
G Gjc2 gap junction protein, gamma 2 ISO protein:decreased expression:lumbar spinal cord ventral horn, oligodendrocyte (mouse) RGD PMID:24597481 RGD:13208591 NCBI chr10:45,526,740...45,535,520
Ensembl chr10:45,526,745...45,534,570
JBrowse link
G Gle1 GLE1 RNA export mediator ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868, PMID:28884921 NCBI chr 3:8,498,098...8,530,218
Ensembl chr 3:8,498,122...8,526,771
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 treatment ISO human protein in a rat model RGD PMID:26113413 RGD:13506239 NCBI chr 1:263,246,248...263,269,762
Ensembl chr 1:263,246,248...263,269,762
JBrowse link
G Grn granulin precursor disease_progression
onset
ISO protein:increased expression:spinal cord, microglia
DNA:mutations: :
RGD PMID:21107132, PMID:18184915, PMID:21107132 RGD:5509593, RGD:5509619, RGD:5509593 NCBI chr10:90,377,103...90,383,207
Ensembl chr10:90,376,933...90,383,205
JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO RGD PMID:12675919 RGD:2301741 NCBI chr 1:82,097,244...82,108,238
Ensembl chr 1:82,097,247...82,108,203
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO RGD PMID:12675919 RGD:2301741 NCBI chr11:65,060,884...65,208,842
Ensembl chr11:65,066,235...65,209,268
JBrowse link
G Gsr glutathione-disulfide reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16681429 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16109392 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Hdac4 histone deacetylase 4 severity ISO RGD PMID:23824486 RGD:9681450 NCBI chr 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715
JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr11:74,312,837...74,315,249
Ensembl chr11:74,312,806...74,315,248
JBrowse link
G Hey1 hes-related family bHLH transcription factor with YRPW motif 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr 2:95,320,147...95,322,701
Ensembl chr 2:95,320,283...95,322,696
JBrowse link
G Hmgb1 high mobility group box 1 severity ISO RGD PMID:23639787 RGD:10402056 NCBI chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237
JBrowse link
G Hnrnpk heterogeneous nuclear ribonucleoprotein K ISO protein:decreased expression:lumbar spinal cord ventral horn, astrocyte (mouse) RGD PMID:19323997 RGD:10058964 NCBI chr17:6,664,730...6,676,753
Ensembl chr17:6,665,659...6,676,654
JBrowse link
G Hrk harakiri, BCL2 interacting protein ISO RGD PMID:29440992 RGD:13506949 NCBI chr12:44,008,879...44,029,211 JBrowse link
G Igf1r insulin-like growth factor 1 receptor onset IEP mRNA:decreased expression:spinal cord (rat) RGD PMID:18683239 RGD:12904708 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Igf2r insulin-like growth factor 2 receptor IEP protein:increased expression:spinal cord, astrocyte RGD PMID:18441505 RGD:2311519 NCBI chr 1:48,176,095...48,264,482
Ensembl chr 1:48,176,106...48,264,477
JBrowse link
G Itpr2 inositol 1,4,5-trisphosphate receptor, type 2 susceptibility ISO DNA:snp:intron:g.26636386A>G rs2306677 (human) RGD PMID:17827064 RGD:6482791 NCBI chr 4:180,423,452...180,800,088
Ensembl chr 4:180,538,389...180,722,358
JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr 3:130,079,361...130,114,781
Ensembl chr 3:130,079,361...130,114,770
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 IEP protein:decreased expression:brainstem RGD PMID:22987392 RGD:8662893 NCBI chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581
JBrowse link
G Kdr kinase insert domain receptor ISO protein:decreased expression:spinal cord RGD PMID:16410746 RGD:1580568 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Keap1 Kelch-like ECH-associated protein 1 ISO mRNA:increased expression:primary motor cortex (human) RGD PMID:18957896 RGD:6893397 NCBI chr 8:22,250,518...22,259,868
Ensembl chr 8:22,250,518...22,259,779
JBrowse link
G Kif1b kinesin family member 1B onset IEP
ISO
mRNA:decreased expression:precentral gyrus (human)
mRNA:increased expression, decreased expression:spinal cord, sciatic nerve (mouse)
RGD PMID:17418584, PMID:24904291 RGD:12738468, RGD:12738469 NCBI chr 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491
JBrowse link
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 7:70,515,832...70,552,897
Ensembl chr 7:70,513,343...70,556,827
JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO mRNA:increased expression:skeletal muscle RGD PMID:21375368 RGD:5508417 NCBI chr 7:132,857,311...133,018,549
Ensembl chr 7:132,857,628...133,018,584
JBrowse link
G Maml1 mastermind-like transcriptional coactivator 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr10:35,765,196...35,801,375
Ensembl chr10:35,765,719...35,800,120
JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha ISO mRNA:increased expression:spinal cord RGD PMID:23851366 RGD:11561951 NCBI chr 3:150,801,289...150,802,935
Ensembl chr 3:150,801,289...150,802,935
JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 ISO protein:hyperphosphorylation:motor neuron: RGD PMID:15910777 RGD:10412312 NCBI chr 1:15,412,603...15,613,752
Ensembl chr 1:15,412,603...15,613,746
JBrowse link
G Mapk14 mitogen activated protein kinase 14 ISO protein:hyperphosphorylation:motor neuron: RGD PMID:15910777 RGD:10412312 NCBI chr20:5,933,290...5,995,137
Ensembl chr20:5,933,303...5,995,137
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:serum (human) RGD PMID:19796283 RGD:7207054 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp2 matrix metallopeptidase 2 severity ISO protein:increased expression:serum, cerebrospinal fluid (human)
protein:increased expression:skin of body, spinal cord
RGD PMID:19796283, PMID:20441996 RGD:7207054, RGD:13204793 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO protein:increased expression:serum, cerebrospinal fluid (human)
protein:increased expression:skin of body, spinal cord
RGD PMID:19796283, PMID:20441996 RGD:7207054, RGD:13204793 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mobp myelin-associated oligodendrocyte basic protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD
ClinVar
PMID:25741868, PMID:27455348 NCBI chr 8:128,824,420...128,854,492
Ensembl chr 8:128,824,508...128,850,358
JBrowse link
G Mstn myostatin IMP RGD PMID:16837207 RGD:2303556 NCBI chr 9:53,310,977...53,315,804
Ensembl chr 9:53,309,598...53,315,915
JBrowse link
G Mt1 metallothionein 1 ISO mRNA:increased expression:spinal cord (mouse) RGD PMID:16179515 RGD:6484130 NCBI chr19:11,301,991...11,303,007
Ensembl chr17:78,793,336...78,793,724
JBrowse link
G Mt2A metallothionein 2A onset ISO mRNA:increased expression:soleus muscle, gastrocnemius muscle (mouse) RGD PMID:18000159 RGD:6482832 NCBI chr19:11,307,966...11,308,740
Ensembl chr19:11,307,967...11,308,740
JBrowse link
G Mt3 metallothionein 3 ISO RGD PMID:17097207, PMID:12388585, PMID:12417341 RGD:6480495, RGD:6480627, RGD:6480625 NCBI chr19:11,324,708...11,326,112
Ensembl chr19:11,324,698...11,326,139
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility
no_association
ISO DNA:polymorphism: :c.677C>T(human) RGD PMID:21128869, PMID:21868135 RGD:11565111, RGD:11565173 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Mtnr1a melatonin receptor 1A disease_progression ISO protein:decreased expression:spinal chord RGD PMID:23537713 RGD:13524569 NCBI chr16:50,339,358...50,358,809
Ensembl chr16:50,339,358...50,358,809
JBrowse link
G Mtrex Mtr4 exosome RNA helicase ISO mRNA:increased expression:peripheral blood lymphocyte (human) RGD PMID:23006766 RGD:11041891 NCBI chr 2:44,726,716...44,787,013
Ensembl chr 2:44,717,781...44,786,963
JBrowse link
G Nefh neurofilament heavy treatment ISO DNA:deletions:cds:multiple (human)
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar PMID:25741868, PMID:9931323, PMID:10686419 RGD:1302518, RGD:13525000 NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
JBrowse link
G Nefl neurofilament light treatment
disease_progression
ISO protein:increased expression:serum, csf RGD PMID:10686419, PMID:26273687 RGD:13525000, RGD:13525006 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
JBrowse link
G Nefm neurofilament medium IGI RGD PMID:16006557 RGD:9698444 NCBI chr15:44,855,307...44,860,604
Ensembl chr15:44,855,310...44,860,604
JBrowse link
G Nek1 NIMA-related kinase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD
ClinVar
PMID:25741868, PMID:26945885, PMID:27455347 NCBI chr16:32,321,010...32,439,421
Ensembl chr16:32,321,010...32,439,421
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 treatment ISO mRNA, protein:decreased expression:primary motor cortex, spinal cord (human) RGD PMID:18957896, PMID:22056419 RGD:6893397, RGD:10412690 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Nos2 nitric oxide synthase 2 ISO protein:increased expression:spinal cord (mouse) RGD PMID:21867702 RGD:5509065 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Notch1 notch receptor 1 ISO protein:increased expression:spinal chord RGD PMID:26067594 RGD:13524575 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Optn optineurin ISO protein:increased expression:spinal cord, neuron
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD Direct Evidence: marker/mechanism
DNA:deletion, missense mutation, nonsense mutation:exon:p.Q398X, p.E478G (human)
DNA:missense mutations, nonsense mutation:cds, intron:multiple
ClinVar
CTD
PMID:21059646, PMID:25096716, PMID:25741868, PMID:21825243, PMID:20428114, PMID:21613650 RGD:6480502, RGD:6480506, RGD:6480504 NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389
JBrowse link
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Guam disease ClinVar PMID:25741868 NCBI chr 5:167,982,438...168,004,724
Ensembl chr 5:167,982,439...168,004,724
JBrowse link
G Pfn1 profilin 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr10:57,273,003...57,275,708
Ensembl chr10:57,273,005...57,275,708
JBrowse link
G Pgf placental growth factor ISO RGD PMID:22119626 RGD:6483573 NCBI chr 6:108,994,016...109,004,598
Ensembl chr 6:108,994,018...109,004,598
JBrowse link
G Pla2g4a phospholipase A2 group IVA ISO CTD Direct Evidence: marker/mechanism CTD PMID:15816863 NCBI chr13:67,062,252...67,206,688
Ensembl chr13:66,988,937...67,206,693
JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr12:2,068,749...2,098,139
Ensembl chr12:2,069,959...2,097,904
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD
ClinVar
PMID:25741868, PMID:28070599 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Pon2 paraoxonase 2 ISO DNA:SNP:intron:rs11981433, association with LD block containing both PON3 and PON2 (human) RGD PMID:16822964 RGD:5509925 NCBI chr 4:30,344,705...30,380,119
Ensembl chr 4:30,344,709...30,380,119
JBrowse link
G Pon3 paraoxonase 3 ISO DNA:SNP:intron:rs10487132, association with LD block containing both PON3 and PON2 (human)
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar PMID:25741868, PMID:28492532, PMID:16822964 RGD:5509925 NCBI chr 4:30,311,981...30,338,679
Ensembl chr 4:30,311,982...30,338,679
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO human gene in mouse model
mRNA:decreased expression:motor cortex, muscle (human)
mRNA:decreased expression:spinal cord, gastrocnemius muscle (mouse)
RGD PMID:22102466, PMID:23147503, PMID:23147503 RGD:6484265, RGD:7242019, RGD:7242019 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Ppp1r15a protein phosphatase 1, regulatory subunit 15A ISO protein:increased expression:spinal cord, astrocyte, microglia (mouse) RGD PMID:23118353 RGD:9999418 NCBI chr 1:101,511,899...101,515,043
Ensembl chr 1:101,511,901...101,514,974
JBrowse link
G Prph peripherin ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to ClinVar PMID:15322088, PMID:15446584, PMID:25741868, PMID:28492532 NCBI chr 7:140,742,406...140,746,197
Ensembl chr 7:140,742,418...140,746,197
JBrowse link
G Psmc4 proteasome 26S subunit, ATPase 4 ISS MouseDO NCBI chr 1:84,978,220...84,986,536
Ensembl chr 1:84,978,206...84,986,581
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:spinal cord, neuron, glia
CTD Direct Evidence: marker/mechanism
CTD PMID:11220737, PMID:15816863, PMID:14511332 RGD:5688235 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Ptprz1 protein tyrosine phosphatase, receptor type Z1 treatment IEP RGD PMID:25113670 RGD:9590123 NCBI chr 4:49,941,046...50,140,764
Ensembl chr 4:49,941,304...50,140,762
JBrowse link
G Rara retinoic acid receptor, alpha IEP RGD PMID:17956549 RGD:2314289 NCBI chr10:86,838,819...86,884,224
Ensembl chr10:86,860,685...86,884,210
JBrowse link
G RGD1359108 similar to RIKEN cDNA 3110043O21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27713094 NCBI chr 5:50,666,444...50,691,523
Ensembl chr 5:50,668,040...50,684,409
JBrowse link
G Rnase4 ribonuclease A family member 4 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr15:28,018,040...28,035,395
Ensembl chr15:28,018,040...28,035,389
Ensembl chr15:28,018,040...28,035,389
JBrowse link
G Runx1 RUNX family transcription factor 1 ISO mRNA:increased expression:skeletal muscle RGD PMID:18000159 RGD:6482832 NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
JBrowse link
G Sarm1 sterile alpha and TIR motif containing 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr10:65,742,343...65,766,050
Ensembl chr10:65,742,343...65,766,050
JBrowse link
G Scfd1 sec1 family domain containing 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD
ClinVar
PMID:25741868, PMID:27455348 NCBI chr 6:72,124,408...72,202,703
Ensembl chr 6:72,124,417...72,202,713
JBrowse link
G Serpinf1 serpin family F member 1 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:12067231 RGD:8554892 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539
JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24885036 NCBI chr 5:58,121,824...58,124,687
Ensembl chr 5:58,121,786...58,124,681
JBrowse link
G Sirt1 sirtuin 1 ISO protein:increased expression:spinal cord (mouse) RGD PMID:17581637 RGD:2290573 NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
JBrowse link
G Slc11a2 solute carrier family 11 member 2 onset ISO DNA:SNP: :rs407135 (human) RGD PMID:21276595 RGD:5688710 NCBI chr 7:142,025,812...142,062,892
Ensembl chr 7:142,025,815...142,063,212
JBrowse link
G Slc1a2 solute carrier family 1 member 2 ISO mRNA:processing errors:spinal cord, motor cortex (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:11723166, PMID:9539131 RGD:1302517 NCBI chr 3:92,518,679...92,665,731
Ensembl chr 3:92,640,752...92,665,644
JBrowse link
G Slc31a1 solute carrier family 31 member 1 disease_progression ISO protein:increased expression:spinal chord RGD PMID:19656261 RGD:13524567 NCBI chr 5:78,222,504...78,249,358
Ensembl chr 5:78,222,504...78,249,358
JBrowse link
G Slc6a1 solute carrier family 6 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20132478 NCBI chr 4:146,258,842...146,292,176
Ensembl chr 4:146,276,862...146,292,213
JBrowse link
G Sod1 superoxide dismutase 1 treatment ISO human gene in a rat model;DNA:missense mutation:cds:p.G93A (human)
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD Direct Evidence: marker/mechanism
protein:increased expression:cerebrospinal fluid (human)
ClinVar
CTD
PMID:7887412, PMID:9065559, PMID:10025816, PMID:10930589, PMID:11220737, PMID:11590119, PMID:11723166, PMID:12586733, PMID:12626432, PMID:16495328, PMID:17097207, PMID:17319283, PMID:17496168, PMID:18233996, PMID:19635794, PMID:19929749, PMID:20132483, PMID:20177826, PMID:20348957, PMID:20515040, PMID:21867702, PMID:23583883, PMID:24885036, PMID:25164820, PMID:25741868, PMID:30503815, PMID:18947433, PMID:26826269, PMID:23147550 RGD:2312367, RGD:13524551, RGD:8655880 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8866423 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:18337587, PMID:22696581, PMID:23733235, PMID:24833714, PMID:25588603, PMID:25741868, PMID:26467025, PMID:27884173, PMID:27904835, PMID:28130640, PMID:28492532 NCBI chr 3:113,999,600...114,064,438
Ensembl chr 3:113,999,719...114,065,170
JBrowse link
G Sqstm1 sequestosome 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
mRNA:increased expression:spinal cord
CTD
ClinVar
PMID:19765191, PMID:25741868, PMID:28492532, PMID:23851366 RGD:11561951 NCBI chr10:35,704,728...35,716,316
Ensembl chr10:35,704,730...35,716,294
JBrowse link
G Ss18l1 SS18L1 subunit of BAF chromatin remodeling complex ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 3:175,426,754...175,445,222
Ensembl chr 3:175,426,752...175,445,222
JBrowse link
G Steap2 STEAP2 metalloreductase disease_progression ISO protein:increased expression:spinal chord RGD PMID:19656261 RGD:13524567 NCBI chr 4:25,506,604...25,527,088
Ensembl chr 4:25,507,463...25,527,087
JBrowse link
G Tardbp TAR DNA binding protein disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:
DNA:mutation:cds:p.G295S(human)
protein:increased phosphorylation:brain
DNA:mutation:cds:p.M337V(human)
CTD PMID:18372902, PMID:21167262, PMID:22879928, PMID:23104007, PMID:24019256, PMID:24252504, PMID:21752789, PMID:18372902, PMID:21651514, PMID:17023659, PMID:18309045, PMID:21998667 RGD:5687134, RGD:5687192, RGD:5687173, RGD:5687158, RGD:5687157, RGD:5687137 NCBI chr 5:165,432,089...165,442,232
Ensembl chr 5:165,432,095...165,442,048
JBrowse link
G Tfam transcription factor A, mitochondrial severity ISO RGD PMID:22354563 RGD:6767572 NCBI chr20:18,594,057...18,606,106
Ensembl chr20:18,594,037...18,606,151
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:spinal cord RGD PMID:13678668 RGD:12904653 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf21 TNF receptor superfamily member 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24113175 NCBI chr 9:20,546,159...20,621,051
Ensembl chr 9:20,546,159...20,621,051
JBrowse link
G Tnip1 TNFAIP3 interacting protein 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr10:40,255,776...40,303,092
Ensembl chr10:40,255,776...40,296,470
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17434459 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, susceptibility to ClinVar PMID:16051700, PMID:19405049, PMID:25741868 NCBI chr 3:119,258,189...119,347,084
Ensembl chr 3:119,259,467...119,330,345
JBrowse link
G Tubb4a tubulin, beta 4A class IVa ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:30311386 NCBI chr 9:9,961,020...9,968,420
Ensembl chr 9:9,961,021...9,968,486
JBrowse link
G Txnrd1 thioredoxin reductase 1 susceptibility ISO DNA:SNPs:intron:rs6539137, rs4630362 (human) RGD PMID:18996185 RGD:5685032 NCBI chr 7:26,946,124...26,984,400
Ensembl chr 7:26,946,125...26,984,400
JBrowse link
G Ubqln2 ubiquilin 2 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:21857683, PMID:25333069, PMID:25616961, PMID:25741868, PMID:26075709, PMID:28492532, PMID:21857683 RGD:5147832 NCBI chr  X:18,723,313...18,726,732
Ensembl chr  X:18,723,341...18,726,732
JBrowse link
G Unc13a unc-13 homolog A no_association ISO DNA:SNP:intron:rs12608932 (human)
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:19734901, PMID:25741868, PMID:20385924, PMID:19734901 RGD:5686382, RGD:5686384 NCBI chr16:20,056,398...20,103,951
Ensembl chr16:20,056,765...20,097,287
JBrowse link
G Vapb VAMP associated protein B and C ISO DNA:missense mutation:cds:p.P56S (human)
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, typical
ClinVar PMID:15372378, PMID:16187141, PMID:16967488, PMID:17804640, PMID:18322265, PMID:18677189, PMID:19183264, PMID:20008544, PMID:20377183, PMID:20447143, PMID:20577002, PMID:21275991, PMID:21685205, PMID:21933185, PMID:22131369, PMID:22258555, PMID:22454507, PMID:23333387, PMID:23446633, PMID:23771029, PMID:24212516, PMID:24681403, PMID:26467025, PMID:26566915, PMID:27978769, PMID:28492532, PMID:15372378 RGD:5688230 NCBI chr 3:171,832,558...171,871,042
Ensembl chr 3:171,832,500...171,868,647
JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis ClinVar PMID:15034582, PMID:20604808, PMID:22270372, PMID:22909335, PMID:23333620, PMID:25617006, PMID:25741868, PMID:28492532 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNP:intron:rs7975232(human) RGD PMID:26190642 RGD:11560790 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:16410746 RGD:1580568 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Zfp106 zinc finger protein 106 ISS MouseDO NCBI chr 3:112,279,782...112,330,288
Ensembl chr 3:112,283,112...112,320,762
JBrowse link
amyotrophic lateral sclerosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2l1 Bcl2-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
JBrowse link
G Bsg basigin (Ok blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 7:12,875,536...12,882,753
Ensembl chr 7:12,875,537...12,882,753
JBrowse link
G Calb2 calbindin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr19:41,482,743...41,509,617
Ensembl chr19:41,482,728...41,509,658
JBrowse link
G Casp1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 8:2,605,743...2,614,637
Ensembl chr 8:2,604,962...2,614,631
JBrowse link
G Cd68 Cd68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr10:56,268,726...56,270,605
Ensembl chr10:56,268,720...56,270,640
JBrowse link
G Cd7 Cd7 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr10:110,229,931...110,232,812
Ensembl chr10:110,229,922...110,232,843
JBrowse link
G Clu clusterin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
JBrowse link
G Cntf ciliary neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11951178 NCBI chr 1:229,599,009...229,601,032
Ensembl chr 1:229,599,009...229,601,032
JBrowse link
G Crebbp CREB binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
JBrowse link
G Cst3 cystatin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
JBrowse link
G Ctsd cathepsin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 1:215,541,570...215,553,446
Ensembl chr 1:215,541,542...215,553,451
JBrowse link
G Dbx1 developing brain homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 1:104,969,218...104,973,648
Ensembl chr 1:104,969,218...104,973,648
JBrowse link
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant
ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL
OMIM
ClinVar
PMID:12062019, PMID:12627231, PMID:15326253, PMID:16240349, PMID:16505168, PMID:17824900, PMID:18094236, PMID:18364389, PMID:18812314, PMID:19279216, PMID:19506225, PMID:22777741, PMID:23143281, PMID:23881933, PMID:24484619, PMID:24627108, PMID:24881494, PMID:25025039, PMID:25299611, PMID:25382069, PMID:25741868, PMID:26392352, PMID:26429889, PMID:26467025, PMID:26662454, PMID:27132499, PMID:27573046, PMID:28130640, PMID:28430856, PMID:28492532, PMID:28717666, PMID:28792508, PMID:29089398, PMID:29339765, PMID:29525180 NCBI chr 4:114,876,770...114,896,567
Ensembl chr 4:114,876,770...114,896,573
JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar PMID:11438206, PMID:16643430, PMID:24728327, PMID:25741868, PMID:28492532 NCBI chr 5:58,448,060...58,456,416
Ensembl chr 5:58,448,822...58,455,819
JBrowse link
G Fgf6 fibroblast growth factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 4:159,563,798...159,572,333
Ensembl chr 4:159,563,798...159,572,333
JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar NCBI chr20:45,922,806...46,044,754
Ensembl chr20:45,922,806...46,044,738
JBrowse link
G Fmo1 flavin containing dimethylaniline monoxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17127561 NCBI chr13:80,712,885...80,745,095
Ensembl chr13:80,712,882...80,745,347
JBrowse link
G Folh1 folate hydrolase 1 treatment ISO RGD PMID:12876198 RGD:737756 NCBI chr 1:150,323,768...150,395,415
Ensembl chr 1:150,323,768...150,395,415
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 6:109,300,433...109,303,299
Ensembl chr 6:109,300,433...109,303,299
JBrowse link
G Fus FUS RNA binding protein ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar NCBI chr 1:199,412,805...199,426,705
Ensembl chr 1:199,412,834...199,426,702
JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr10:27,310,718...27,371,802
Ensembl chr10:27,310,725...27,366,665
JBrowse link
G Gbx2 gastrulation brain homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 9:97,063,265...97,065,855
Ensembl chr 9:97,063,728...97,065,817
JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr  X:156,400,734...156,407,396
Ensembl chr  X:156,400,736...156,407,404
JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr10:90,990,762...90,999,435
Ensembl chr10:90,990,762...90,999,506
JBrowse link
G Gria3 glutamate ionotropic receptor AMPA type subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15264227 NCBI chr  X:127,561,843...127,829,763
Ensembl chr  X:127,562,660...127,829,753
JBrowse link
G Gsx2 GS homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr14:35,650,985...35,652,709
Ensembl chr14:35,650,985...35,652,709
JBrowse link
G Hsf1 heat shock transcription factor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:24256636 NCBI chr 7:117,538,523...117,565,478
Ensembl chr 7:117,538,523...117,565,478
JBrowse link
G Ina internexin neuronal intermediate filament protein, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 1:266,782,835...266,794,389
Ensembl chr 1:266,781,617...266,794,431
JBrowse link
G Jak3 Janus kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668
JBrowse link
G Jund JunD proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr16:20,485,028...20,486,707
Ensembl chr16:20,485,029...20,486,707
JBrowse link
G Kif3c kinesin family member 3C ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 6:27,768,943...27,815,611
Ensembl chr 6:27,768,943...27,815,611
JBrowse link
G Kif5a kinesin family member 5A ISO mRNA:increased expression:frontal cortex, cerebellum, spinal cord (mouse) RGD PMID:23006449 RGD:12798528 NCBI chr 7:70,515,832...70,552,897
Ensembl chr 7:70,513,343...70,556,827
JBrowse link
G Kif5c kinesin family member 5C ISO mRNA:increased expression:frontal cortex, cerebellum (mouse) RGD PMID:23006449 RGD:12798528 NCBI chr 3:35,014,157...35,257,417
Ensembl chr 3:35,014,538...35,257,407
JBrowse link
G Lat linker for activation of T cells ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 1:197,765,644...197,770,669
Ensembl chr 1:197,765,644...197,770,669
JBrowse link
G Ldlr low density lipoprotein receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
JBrowse link
G Masp2 mannan-binding lectin serine peptidase 2 ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:24033266, PMID:28492532 NCBI chr 5:165,415,105...165,429,857
Ensembl chr 5:165,415,136...165,430,054
JBrowse link
G Mt1 metallothionein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:24163136 NCBI chr19:11,301,991...11,303,007
Ensembl chr17:78,793,336...78,793,724
JBrowse link
G Nefh neurofilament heavy ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 OMIM
ClinVar
PMID:25741868, PMID:28492532 NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
JBrowse link
G Otog otogelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 1:102,258,124...102,327,201
Ensembl chr 1:102,258,124...102,327,201
JBrowse link
G Pdgfa platelet derived growth factor subunit A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr12:17,734,141...17,756,186
Ensembl chr12:17,734,133...17,755,285
JBrowse link
G Penk proenkephalin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 5:17,056,412...17,061,762
Ensembl chr 5:17,056,419...17,061,837
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17204329 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Prph peripherin ISO OMIM NCBI chr 7:140,742,406...140,746,197
Ensembl chr 7:140,742,418...140,746,197
JBrowse link
G Rxra retinoid X receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 3:6,272,560...6,295,354
Ensembl chr 3:6,211,789...6,295,908
JBrowse link
G Selplg selectin P ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr12:48,577,905...48,579,196
Ensembl chr12:48,577,905...48,579,196
JBrowse link
G Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 6:128,073,344...128,080,878
Ensembl chr 6:127,941,526...128,080,889
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:23757202, PMID:25741868, PMID:28492532 NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539
JBrowse link
G Shc1 SHC adaptor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 2:188,745,503...188,757,066
Ensembl chr 2:188,745,503...188,757,066
JBrowse link
G Six2 SIX homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 6:8,952,572...8,955,893
Ensembl chr 6:8,952,572...8,956,276
JBrowse link
G Snai1 snail family transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 3:164,274,710...164,279,199
Ensembl chr 3:164,274,710...164,279,378
JBrowse link
G Sncg synuclein, gamma ISS OMIM:105400 MouseDO NCBI chr16:10,722,110...10,726,648
Ensembl chr16:10,722,106...10,726,707
JBrowse link
G Sod1 superoxide dismutase 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 1, autosomal recessive
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant
ClinVar Annotator: match by OMIM:105400
DNA:missense mutation:cds:p.D90A (human)
DNA:missense mutations:cds:multiple (human)
DNA:missense mutation:cds:p.I113T (human)
OMIM
ClinVar
CTD
PMID:1259395, PMID:7496169, PMID:7501156, PMID:7635196, PMID:7643359, PMID:7647793, PMID:7655469, PMID:7655471, PMID:7673954, PMID:7755363, PMID:7836951, PMID:7887412, PMID:7891072, PMID:7911198, PMID:7951249, PMID:7985500, PMID:7997024, PMID:8004110, PMID:8058797, PMID:8069312, PMID:8105280, PMID:8179602, PMID:8298637, PMID:8351519, PMID:8446170, PMID:8528216, PMID:8560268, PMID:8572658, PMID:8650157, PMID:8682505, PMID:8813280, PMID:8830861, PMID:8875253, PMID:8900247, PMID:8909456, PMID:8938700, PMID:8967745, PMID:8990014, PMID:9008494, PMID:9029070, PMID:9052802, PMID:9101297, PMID:9228005, PMID:9365366, PMID:9455977, PMID:9506558, PMID:9706719, PMID:9743498, PMID:9817920, PMID:9857958, PMID:10400992, PMID:10430435, PMID:10439968, PMID:10624810, PMID:10732812, PMID:10735277, PMID:10764647, PMID:10809943, PMID:10889018, PMID:11181815, PMID:11220750, PMID:11284995, PMID:11346368, PMID:11369193, PMID:11464950, PMID:11467054, PMID:11675877, PMID:11676987, PMID:11796754, PMID:11951178, PMID:12127151, PMID:12165567, PMID:12358759, PMID:12402272, PMID:12442272, PMID:12482932, PMID:12729761, PMID:12732844, PMID:12783432, PMID:12792143, PMID:12963370, PMID:13129804, PMID:13804989, PMID:14506936, PMID:14623191, PMID:14658402, PMID:14755739, PMID:14875225, PMID:14970233, PMID:15056757, PMID:15069187, PMID:15096637, PMID:15258228, PMID:15264227, PMID:15522870, PMID:15579468, PMID:15634772, PMID:15843422, PMID:15952898, PMID:15987780, PMID:16020530, PMID:16038516, PMID:16105836, PMID:16291929, PMID:16476815, PMID:16674979, PMID:16793335, PMID:16945901, PMID:17146286, PMID:17255946, PMID:17257622, PMID:17319283, PMID:17333220, PMID:17394531, PMID:17420412, PMID:17453632, PMID:17486090, PMID:17543992, PMID:18055113, PMID:18301754, PMID:18319614, PMID:18428003, PMID:18504130, PMID:18608106, PMID:18666828, PMID:18669821, PMID:18951903, PMID:19139308, PMID:19176896, PMID:19196430, PMID:19227972, PMID:19259395, PMID:19332692, PMID:19363716, PMID:19483195, PMID:19618436, PMID:19635794, PMID:19685200, PMID:19703565, PMID:19751676, PMID:19800308, PMID:19815002, PMID:19847927, PMID:19922148, PMID:19965850, PMID:20079423, PMID:20184515, PMID:20184519, PMID:20184521, PMID:20184893, PMID:20189984, PMID:20309572, PMID:20385392, PMID:20399791, PMID:20404329, PMID:20404910, PMID:20460594, PMID:20472325, PMID:20485746, PMID:20540686, PMID:20562451, PMID:20577002, PMID:20801718, PMID:21140194, PMID:21226712, PMID:21257910, PMID:21329474, PMID:21506602, PMID:21549128, PMID:21549454, PMID:21603025, PMID:21651514, PMID:21700707, PMID:21700728, PMID:21901496, PMID:21930207, PMID:22094223, PMID:22264771, PMID:22292843, PMID:22332887, PMID:22475618, PMID:22499346, PMID:22589106, PMID:22595972, PMID:22645277, PMID:22647583, PMID:22670878, PMID:22722621, PMID:22941224, PMID:22985433, PMID:23062701, PMID:23100398, PMID:23118898, PMID:23280792, PMID:23286750, PMID:23291526, PMID:23321002, PMID:23447461, PMID:23541756, PMID:23612299, PMID:23726301, PMID:23760509, PMID:23773010, PMID:23784844, PMID:23792044, PMID:23837654, PMID:23881933, PMID:23949607, PMID:23962495, PMID:24134191, PMID:24139042, PMID:24163136, PMID:24256636, PMID:24325798, PMID:24369116, PMID:24439480, PMID:24472010, PMID:24591457, PMID:24704493, PMID:24769475, PMID:24793051, PMID:24908169, PMID:24971881, PMID:25025039, PMID:25052939, PMID:25096579, PMID:25109764, PMID:25178511, PMID:25299611, PMID:25382069, PMID:25509359, PMID:25578810, PMID:25600987, PMID:25741868, PMID:25792239, PMID:25806427, PMID:26059445, PMID:26069299, PMID:26362407, PMID:26467025, PMID:26694608, PMID:26742954, PMID:26791423, PMID:26843957, PMID:27257061, PMID:27261500, PMID:27584932, PMID:27604643, PMID:27810918, PMID:27884173, PMID:27978769, PMID:28003435, PMID:28089114, PMID:28089144, PMID:28105640, PMID:28222900, PMID:28291249, PMID:28325066, PMID:28401346, PMID:28430856, PMID:28492532, PMID:28620717, PMID:28642336, PMID:28877271, PMID:29367447, PMID:29861044, PMID:30311386, PMID:30637102, PMID:10809943, PMID:8815157, PMID:20184521, PMID:8446170 RGD:8655873, RGD:8655862, RGD:8655618, RGD:737689 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sod2 superoxide dismutase 2 ISS OMIM:105400 MouseDO NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Tardbp TAR DNA binding protein ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:19411082, PMID:20082726, PMID:20675015, PMID:20708823, PMID:22575358, PMID:24033266, PMID:24477737, PMID:26467025, PMID:28492532 NCBI chr 5:165,432,089...165,442,232
Ensembl chr 5:165,432,095...165,442,048
JBrowse link
G Tiam1 TIAM Rac1 associated GEF 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr11:29,931,083...30,061,173
Ensembl chr11:29,933,163...30,051,103
JBrowse link
G Tle3 TLE family member 3, transcriptional corepressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 8:66,296,509...66,342,186
Ensembl chr 8:66,296,883...66,342,176
JBrowse link
G Tmsb4x thymosin beta 4, X-linked ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr  X:28,593,405...28,617,267
Ensembl chr  X:28,593,405...28,595,395
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Ubqln2 ubiquilin 2 ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:25741868, PMID:28492532 NCBI chr  X:18,723,313...18,726,732
Ensembl chr  X:18,723,341...18,726,732
JBrowse link
G Vapb VAMP associated protein B and C ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar NCBI chr 3:171,832,558...171,871,042
Ensembl chr 3:171,832,500...171,868,647
JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant ClinVar PMID:11438206, PMID:16643430, PMID:24728327, PMID:25741868, PMID:28492532 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
JBrowse link
G Vegfa vascular endothelial growth factor A ISS OMIM:105400 MouseDO NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Vim vimentin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212
JBrowse link
G Vps54 VPS54 subunit of GARP complex ISS OMIM:105400 MouseDO NCBI chr14:106,153,407...106,207,715
Ensembl chr14:106,153,575...106,207,658
JBrowse link
G Wnt7a Wnt family member 7A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr 4:122,994,425...123,040,609
Ensembl chr 4:122,994,425...123,040,609
JBrowse link
G Xiap X-linked inhibitor of apoptosis ISO CTD Direct Evidence: marker/mechanism CTD PMID:11796754 NCBI chr  X:128,409,425...128,455,786
Ensembl chr  X:128,409,472...128,453,000
JBrowse link
amyotrophic lateral sclerosis type 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Masp2 mannan-binding lectin serine peptidase 2 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 ClinVar NCBI chr 5:165,415,105...165,429,857
Ensembl chr 5:165,415,136...165,430,054
JBrowse link
G Tardbp TAR DNA binding protein ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10
ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED
ClinVar Annotator: match by OMIM:612069
OMIM
ClinVar
PMID:18068872, PMID:18288693, PMID:18309045, PMID:18372902, PMID:18396105, PMID:18438952, PMID:18505686, PMID:18545701, PMID:18779421, PMID:18802454, PMID:18931000, PMID:19204172, PMID:19224587, PMID:19228676, PMID:19236453, PMID:19350673, PMID:19411082, PMID:19429692, PMID:19465477, PMID:19515851, PMID:19609911, PMID:19618195, PMID:19695877, PMID:19760257, PMID:19786775, PMID:19808791, PMID:19864663, PMID:19959528, PMID:20031275, PMID:20082726, PMID:20154440, PMID:20301761, PMID:20472325, PMID:20555136, PMID:20558945, PMID:20577002, PMID:20600671, PMID:20624952, PMID:20645878, PMID:20675015, PMID:20697052, PMID:20708823, PMID:20806063, PMID:21123567, PMID:21173160, PMID:21220647, PMID:21403029, PMID:21438137, PMID:21752789, PMID:21829392, PMID:22406069, PMID:22456481, PMID:22539580, PMID:22563080, PMID:22575358, PMID:22645277, PMID:23231971, PMID:23235148, PMID:23327806, PMID:23345247, PMID:23401527, PMID:23457265, PMID:23827948, PMID:24117534, PMID:24143176, PMID:24300238, PMID:24477737, PMID:24507191, PMID:25442115, PMID:25588603, PMID:25741868, PMID:26096467, PMID:26467025, PMID:26777436, PMID:26883171, PMID:28089114, PMID:28286471, PMID:28335005, PMID:28430856, PMID:28492532, PMID:28709720, PMID:28889094, PMID:31124595 NCBI chr 5:165,432,089...165,442,232
Ensembl chr 5:165,432,095...165,442,048
JBrowse link
amyotrophic lateral sclerosis type 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 11
ClinVar Annotator: match by OMIM:612577
OMIM
ClinVar
PMID:17572665, PMID:18180444, PMID:18261132, PMID:18556664, PMID:19118816, PMID:20630877, PMID:21655088, PMID:21705420, PMID:22131434, PMID:22998443, PMID:23336365, PMID:23489662, PMID:24878229, PMID:25510381, PMID:25614874, PMID:25617005, PMID:25741868, PMID:26467025, PMID:28051077, PMID:28492532, PMID:29342275, PMID:29650794, PMID:30311386 NCBI chr20:45,922,806...46,044,754
Ensembl chr20:45,922,806...46,044,738
JBrowse link
amyotrophic lateral sclerosis type 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Optn optineurin ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12 OMIM
ClinVar
PMID:11834836, PMID:11978762, PMID:12208142, PMID:12789137, PMID:12939304, PMID:14597044, PMID:15226658, PMID:15326130, PMID:15761120, PMID:16205626, PMID:16358725, PMID:16619239, PMID:17122126, PMID:17293779, PMID:17615537, PMID:19096531, PMID:19145250, PMID:19172505, PMID:19672125, PMID:20428114, PMID:20671613, PMID:20981092, PMID:21074290, PMID:21217154, PMID:21220178, PMID:21550138, PMID:21613650, PMID:21852022, PMID:22402017, PMID:22708870, PMID:22892313, PMID:22995991, PMID:23062601, PMID:25333069, PMID:25741868, PMID:25943890, PMID:26467025, PMID:26566915, PMID:28492532, PMID:29650794 NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389
JBrowse link
amyotrophic lateral sclerosis type 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia
ClinVar Annotator: match by OMIM:613954
OMIM
ClinVar
PMID:15034582, PMID:16247064, PMID:16321991, PMID:16790606, PMID:16984901, PMID:17329348, PMID:17763460, PMID:17889967, PMID:18341608, PMID:19225410, PMID:19237541, PMID:19364651, PMID:19704082, PMID:20008565, PMID:20104022, PMID:20512113, PMID:20604808, PMID:21145000, PMID:21320982, PMID:21387114, PMID:21816654, PMID:21822278, PMID:21920633, PMID:21984748, PMID:22078486, PMID:22137929, PMID:22270372, PMID:22686199, PMID:22898872, PMID:22900631, PMID:22909335, PMID:23029473, PMID:23056506, PMID:23152587, PMID:23169451, PMID:23333620, PMID:23498975, PMID:24196964, PMID:24829604, PMID:25125609, PMID:25388089, PMID:25492614, PMID:25617006, PMID:25618255, PMID:25741868, PMID:25775548, PMID:26105173, PMID:26467025, PMID:26555887, PMID:27209344, PMID:27226613, PMID:27768726, PMID:27790088, PMID:28130640, PMID:28360103, PMID:28430856, PMID:28492532, PMID:28692196, PMID:29754758, PMID:29899994 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
JBrowse link
amyotrophic lateral sclerosis type 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ubqln2 ubiquilin 2 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia
ClinVar Annotator: match by OMIM:300857
OMIM
ClinVar
PMID:21857683, PMID:24771548, PMID:25333069, PMID:25616961, PMID:25741868, PMID:26075709, PMID:28492532 NCBI chr  X:18,723,313...18,726,732
Ensembl chr  X:18,723,341...18,726,732
JBrowse link
amyotrophic lateral sclerosis type 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 16, juvenile
ClinVar Annotator: match by OMIM:614373
OMIM
ClinVar
PMID:21842496, PMID:24088041, PMID:25704016, PMID:25741868, PMID:26205306, PMID:26633545, PMID:28492532 NCBI chr 5:58,121,824...58,124,687
Ensembl chr 5:58,121,786...58,124,681
JBrowse link
amyotrophic lateral sclerosis type 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chmp2b charged multivesicular body protein 2B ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 17
ClinVar Annotator: match by OMIM:614696
OMIM
ClinVar
PMID:16431024, PMID:16807408, PMID:16941655, PMID:20352044, PMID:20592581, PMID:21222599, PMID:25741868, PMID:26836416, PMID:28430856, PMID:28492532, PMID:29431110, PMID:29525180 NCBI chr11:2,666,405...2,692,213
Ensembl chr11:2,665,285...2,692,198
JBrowse link
amyotrophic lateral sclerosis type 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pfn1 profilin 1 ISO ClinVar Annotator: match by OMIM:614808 OMIM
ClinVar
PMID:22801503 NCBI chr10:57,273,003...57,275,708
Ensembl chr10:57,273,005...57,275,708
JBrowse link
amyotrophic lateral sclerosis type 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 19
ClinVar Annotator: match by OMIM:615515
OMIM
ClinVar
PMID:24119685, PMID:25741868 NCBI chr 9:75,021,790...76,178,936
Ensembl chr 9:75,021,790...75,528,644
JBrowse link
amyotrophic lateral sclerosis type 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 20 OMIM
ClinVar
PMID:23455423 NCBI chr 7:144,865,302...144,871,592
Ensembl chr 7:144,865,608...144,871,585
JBrowse link
amyotrophic lateral sclerosis type 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Matr3 matrin 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 21
ClinVar Annotator: match by term: Myopathy, distal, 2
ClinVar Annotator: match by OMIM:606070
OMIM
ClinVar
PMID:9837826, PMID:19344878, PMID:24686783, PMID:25154462, PMID:25185957, PMID:25677933, PMID:25741868, PMID:25771394, PMID:25952333, PMID:26467025, PMID:26493020, PMID:26528920, PMID:26780671, PMID:28492532, PMID:29525178 NCBI chr18:28,351,691...28,390,764
Ensembl chr18:28,361,283...28,390,717
JBrowse link
amyotrophic lateral sclerosis type 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tuba4a tubulin, alpha 4A ISO ClinVar Annotator: match by OMIM:616208 OMIM
ClinVar
PMID:25374358 NCBI chr 9:82,415,599...82,419,918
Ensembl chr 9:82,415,605...82,419,288
JBrowse link
amyotrophic lateral sclerosis type 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa11 annexin A11 ISO ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 23 ClinVar
OMIM
PMID:28469040 NCBI chr16:3,867,193...3,912,043
Ensembl chr16:3,867,208...3,912,148
JBrowse link
Amyotrophic Lateral Sclerosis Type 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek1 NIMA-related kinase 1 susceptibility ISO ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24 ClinVar
OMIM
PMID:21211617, PMID:22499340, PMID:23757202, PMID:24033266, PMID:25741868, PMID:26945885, PMID:27455347, PMID:28089114, PMID:28123176, PMID:28492532, PMID:29068549 NCBI chr16:32,321,010...32,439,421
Ensembl chr16:32,321,010...32,439,421
JBrowse link
Amyotrophic Lateral Sclerosis Type 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif5a kinesin family member 5A susceptibility ISO ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25 ClinVar
OMIM
PMID:29342275, PMID:29566793 NCBI chr 7:70,515,832...70,552,897
Ensembl chr 7:70,513,343...70,556,827
JBrowse link
amyotrophic lateral sclerosis type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fus FUS RNA binding protein ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6
DNA:mutations:cds:
ClinVar Annotator: match by OMIM:608030
OMIM
ClinVar
PMID:12840784, PMID:12858291, PMID:19251627, PMID:19251628, PMID:19450904, PMID:19741215, PMID:19861302, PMID:20018407, PMID:20124201, PMID:20138404, PMID:20142531, PMID:20385912, PMID:20544928, PMID:20577002, PMID:20579074, PMID:20606625, PMID:20660363, PMID:20668259, PMID:20668261, PMID:20699327, PMID:21158017, PMID:21261515, PMID:21280085, PMID:21604077, PMID:21881207, PMID:21907581, PMID:21943958, PMID:21949354, PMID:22055719, PMID:22292843, PMID:22340366, PMID:22645277, PMID:22722621, PMID:22863194, PMID:22980027, PMID:23046859, PMID:23056579, PMID:23085990, PMID:23577159, PMID:23731953, PMID:23834483, PMID:23881933, PMID:24033266, PMID:24080306, PMID:24204307, PMID:24262168, PMID:24280224, PMID:24439481, PMID:24899262, PMID:24908169, PMID:25173930, PMID:25274782, PMID:25289647, PMID:25324524, PMID:25382069, PMID:25457557, PMID:25585530, PMID:25625564, PMID:25631824, PMID:25741868, PMID:26251528, PMID:26452761, PMID:26467025, PMID:26601740, PMID:26725112, PMID:26795035, PMID:27123482, PMID:28273913, PMID:28492532, PMID:28642336, PMID:30279455, PMID:30349096, PMID:30879340, PMID:19251628 RGD:9685712 NCBI chr 1:199,412,805...199,426,705
Ensembl chr 1:199,412,834...199,426,702
JBrowse link
amyotrophic lateral sclerosis type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apcdd1l APC down-regulated 1 like ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:171,879,728...171,958,155
Ensembl chr 3:171,878,143...171,957,996
JBrowse link
G Atp5f1e ATP synthase F1 subunit epsilon ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:172,563,105...172,566,007
Ensembl chr 3:172,563,105...172,566,010
JBrowse link
G Ctsz cathepsin Z ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:172,527,107...172,537,877
Ensembl chr 3:172,527,107...172,537,877
JBrowse link
G Edn3 endothelin 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:172,856,730...172,879,276
Ensembl chr 3:172,856,733...172,880,450
JBrowse link
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
G Mir296 microRNA 296 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:172,357,490...172,357,567
Ensembl chr 3:172,357,490...172,357,567
JBrowse link
G Mir298 microRNA 298 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:172,357,943...172,358,024
Ensembl chr 3:172,357,943...172,358,024
JBrowse link
G Nelfcd negative elongation factor complex member C/D ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:172,510,840...172,527,118
Ensembl chr 3:172,510,874...172,526,740
JBrowse link
G Npepl1 aminopeptidase-like 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:172,195,115...172,207,685
Ensembl chr 3:172,195,844...172,207,685
JBrowse link
G Prelid3b PRELI domain containing 3B ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:172,567,092...172,574,382
Ensembl chr 3:172,567,732...172,574,333
JBrowse link
G Stx16 syntaxin 16 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:172,154,739...172,183,699
Ensembl chr 3:172,154,754...172,183,732
JBrowse link
G Tubb1 tubulin, beta 1 class VI ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:172,550,252...172,558,089
Ensembl chr 3:172,550,258...172,558,114
JBrowse link
G Vapb VAMP associated protein B and C ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8
ClinVar Annotator: match by OMIM:608627
OMIM
ClinVar
PMID:15372378, PMID:16187141, PMID:16967488, PMID:17804640, PMID:18322265, PMID:18677189, PMID:19183264, PMID:20008544, PMID:20377183, PMID:20447143, PMID:20577002, PMID:20940299, PMID:21275991, PMID:21685205, PMID:21933185, PMID:22131369, PMID:22258555, PMID:22454507, PMID:22878164, PMID:23333387, PMID:23446633, PMID:23771029, PMID:23971766, PMID:24212516, PMID:24681403, PMID:25741868, PMID:26362251, PMID:26467025, PMID:26566915, PMID:27978769, PMID:28492532 NCBI chr 3:171,832,558...171,871,042
Ensembl chr 3:171,832,500...171,868,647
JBrowse link
G Zfp831 zinc finger protein 831 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 ClinVar PMID:28492532 NCBI chr 3:172,691,455...172,804,804
Ensembl chr 3:172,692,452...172,804,916
JBrowse link
amyotrophic lateral sclerosis type 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ang angiogenin ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 9
ClinVar Annotator: match by OMIM:611895
OMIM
ClinVar
PMID:16501576, PMID:17462671, PMID:17703939, PMID:17886298, PMID:17900154, PMID:18087731, PMID:18852347, PMID:19153377, PMID:19363631, PMID:19444281, PMID:19449021, PMID:19488901, PMID:20577002, PMID:22190368, PMID:22292843, PMID:22384259, PMID:22499346, PMID:22522484, PMID:22645277, PMID:23047679, PMID:23155438, PMID:23447461, PMID:23463871, PMID:23665167, PMID:25382069, PMID:25741868, PMID:26255299, PMID:26467025, PMID:28444446, PMID:28492532 NCBI chr15:28,022,926...28,028,636 JBrowse link
G Rnase4 ribonuclease A family member 4 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 9
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 9
ClinVar PMID:16501576, PMID:17462671, PMID:17703939, PMID:17886298, PMID:17900154, PMID:18087731, PMID:18852347, PMID:19153377, PMID:19363631, PMID:19444281, PMID:19449021, PMID:19488901, PMID:20577002, PMID:22190368, PMID:22292843, PMID:22384259, PMID:22499346, PMID:22522484, PMID:22645277, PMID:23047679, PMID:23155438, PMID:23447461, PMID:23463871, PMID:23665167, PMID:25382069, PMID:25741868, PMID:26255299, PMID:26467025, PMID:28444446, PMID:28492532 NCBI chr15:28,018,040...28,035,395
Ensembl chr15:28,018,040...28,035,389
Ensembl chr15:28,018,040...28,035,389
JBrowse link
Amyotrophic Lateral Sclerosis, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive ClinVar PMID:28492532 NCBI chr 9:65,961,361...66,034,396
Ensembl chr 9:65,961,346...66,033,871
JBrowse link
G Optn optineurin ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive ClinVar NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389
JBrowse link
amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Guam disease ClinVar PMID:25741868 NCBI chr 5:167,982,438...168,004,724
Ensembl chr 5:167,982,439...168,004,724
JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 susceptibility
no_association
ISO DNA:mutation:cds: p.T1482I (human)
CTD Direct Evidence: marker/mechanism
CTD
OMIM
PMID:16051700, PMID:19405049 RGD:5685005, RGD:5685008 NCBI chr 3:119,258,189...119,347,084
Ensembl chr 3:119,259,467...119,330,345
JBrowse link
APP-related cerebral amyloid angiopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral amyloid angiopathy, APP-related
ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT
CTD
ClinVar
OMIM
PMID:1303239, PMID:1679289, PMID:2111584, PMID:9754958, PMID:9848098, PMID:10821838, PMID:11311152, PMID:11409420, PMID:11441013, PMID:11528419, PMID:12654973, PMID:15502844, PMID:16178030, PMID:18413473, PMID:19225789, PMID:20228223, PMID:20697050, PMID:24878480, PMID:25741868, PMID:26104569, PMID:26402770, PMID:27000221, PMID:27858710, PMID:28350801, PMID:28492532 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
JBrowse link
cerebral amyloid angiopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aoc3 amine oxidase, copper containing 3 ISO associated with Alzheimer Disease;protein:increased expression:brain RGD PMID:17393059 RGD:2313919 NCBI chr10:89,251,370...89,259,313
Ensembl chr10:89,251,370...89,259,313
JBrowse link
G Apoa1 apolipoprotein A1 ISO RGD PMID:20739292 RGD:5508213 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:11061249 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21520056 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
JBrowse link
G Aqp4 aquaporin 4 ISO RGD PMID:21107133 RGD:5148012 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO RGD PMID:14595653 RGD:5688166 NCBI chr 8:132,996,646...133,002,201
Ensembl chr 8:132,996,649...133,002,201
JBrowse link
G Itm2b integral membrane protein 2B ISS MouseDO NCBI chr15:55,254,703...55,277,713
Ensembl chr15:55,254,706...55,277,713
JBrowse link
G Mme membrane metallo-endopeptidase severity ISO associated with Alzheimer Disease;protein:decreased expression:frontal lobe cortex (human) RGD PMID:17021406, PMID:21382117 RGD:1600811, RGD:13801026 NCBI chr 2:153,799,203...153,880,910
Ensembl chr 2:153,803,349...153,880,738
JBrowse link
G Olr1 oxidized low density lipoprotein receptor 1 ISO RGD PMID:16328515 RGD:1580993 NCBI chr 4:163,239,853...163,261,937
Ensembl chr 4:163,239,849...163,261,958
JBrowse link
G Psen1 presenilin 1 ISO GAD PMID:15118671 RGD:1331525 NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
JBrowse link
chromosome 3-linked frontotemporal dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chmp2b charged multivesicular body protein 2B ISO ClinVar Annotator: match by term: Frontotemporal Dementia, Chromosome 3-Linked
ClinVar Annotator: match by OMIM:600795
ClinVar
OMIM
PMID:16041373, PMID:16431024, PMID:16807408, PMID:16941655, PMID:17956895, PMID:20352044, PMID:20592581, PMID:20625756, PMID:21222599, PMID:22521643, PMID:22527221, PMID:23155438, PMID:25741868, PMID:26467025, PMID:26777436, PMID:26836416, PMID:28430856, PMID:28492532, PMID:29431110, PMID:29486463, PMID:29525180 NCBI chr11:2,666,405...2,692,213
Ensembl chr11:2,665,285...2,692,198
JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: Frontotemporal Dementia, Chromosome 3-Linked ClinVar NCBI chr11:2,645,659...2,662,581
Ensembl chr11:2,645,865...2,662,579
JBrowse link
CST3-related cerebral amyloid angiopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein ISO ClinVar Annotator: match by term: Hereditary cerebral hemorrhage with amyloidosis ClinVar PMID:25741868 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
JBrowse link
G Cst3 cystatin C ISO ClinVar Annotator: match by term: Hereditary cerebral amyloid angiopathy, Icelandic type
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2363674, PMID:2567273, PMID:2900981, PMID:8108423, PMID:18566660, PMID:25741868 NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
JBrowse link
Familial Amyloid Polyneuropathies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy type III ClinVar PMID:2123470, PMID:3142462, PMID:4304452 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G F10 coagulation factor X ISO protein:decreased expression:plasma: RGD PMID:22624582 RGD:11041730 NCBI chr16:81,803,169...81,822,476
Ensembl chr16:81,803,110...81,822,716
JBrowse link
G F2 coagulation factor II ISO protein:increased expression:plasma: RGD PMID:22624582 RGD:11041730 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy ClinVar PMID:11499719, PMID:12974739, PMID:15519027, PMID:17560888, PMID:22464770, PMID:22763267, PMID:22995991, PMID:23217326, PMID:23233322, PMID:23820649, PMID:24033266, PMID:24055113, PMID:25637381, PMID:25741868, PMID:26090888, PMID:26332594, PMID:28492532 NCBI chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy ClinVar PMID:25351510, PMID:25741868, PMID:28492532, PMID:28600387 NCBI chr11:88,912,163...88,972,213 JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy ClinVar PMID:11815426, PMID:12860912, PMID:15524171, PMID:15607392, PMID:18175163, PMID:21310275, PMID:23967088, PMID:24033266, PMID:24510615, PMID:25324519, PMID:25741868, PMID:25940119, PMID:28492532 NCBI chr 1:72,882,806...72,886,490
Ensembl chr 1:72,882,806...72,886,488
JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Familial amyloid polyneuropathy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1351039, PMID:1355416, PMID:1356051, PMID:1358785, PMID:1729893, PMID:1850190, PMID:1877623, PMID:1979335, PMID:1997217, PMID:2002274, PMID:2063870, PMID:2174830, PMID:2237288, PMID:2320592, PMID:2349941, PMID:2590199, PMID:2646319, PMID:3030336, PMID:3229002, PMID:3627183, PMID:3934968, PMID:6736244, PMID:7868124, PMID:7906282, PMID:7923855, PMID:8095073, PMID:8102146, PMID:8275943, PMID:8345041, PMID:8428916, PMID:8698351, PMID:8784093, PMID:9017939, PMID:9090525, PMID:9268242, PMID:9395311, PMID:9428731, PMID:10529370, PMID:10762172, PMID:10772944, PMID:10842715, PMID:11385707, PMID:11577236, PMID:11752419, PMID:11752443, PMID:12050338, PMID:12217248, PMID:12440486, PMID:12588803, PMID:12707074, PMID:12874413, PMID:12874414, PMID:14569203, PMID:14640030, PMID:15123043, PMID:15185492, PMID:15299606, PMID:15469931, PMID:15735344, PMID:15820680, PMID:16011990, PMID:16362527, PMID:16432141, PMID:16631014, PMID:16631015, PMID:16911959, PMID:17251346, PMID:17431395, PMID:17503405, PMID:18276611, PMID:18295603, PMID:18318779, PMID:18830126, PMID:18984591, PMID:19428025, PMID:19781421, PMID:20030258, PMID:20301373, PMID:20435197, PMID:20840742, PMID:21557933, PMID:21600538, PMID:22083004, PMID:22184092, PMID:22332999, PMID:22449240, PMID:22620962, PMID:22745357, PMID:22877808, PMID:22995991, PMID:23414091, PMID:23580146, PMID:23713495, PMID:23716704, PMID:24033266, PMID:24073013, PMID:24101373, PMID:24111657, PMID:24184229, PMID:24474780, PMID:24517438, PMID:24633258, PMID:24818650, PMID:24945718, PMID:24955979, PMID:25225131, PMID:25311081, PMID:25395306, PMID:25551524, PMID:25741868, PMID:25743335, PMID:25819286, PMID:25846356, PMID:26123279, PMID:26428663, PMID:26467025, PMID:26537620, PMID:27249223, PMID:27501389, PMID:27532257, PMID:27562180, PMID:27885756, PMID:28492532, PMID:29121657, PMID:15118671 RGD:1331525 NCBI chr18:15,532,963...15,542,180
Ensembl chr18:15,532,963...15,540,177
JBrowse link
Familial Amyloidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa1 apolipoprotein A1 ISO RGD PMID:22495291 RGD:7241855 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Cst3 cystatin C ISO protein:missense mutation:cds:p.L68Q (human) RGD PMID:3517880 RGD:2314354 NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
JBrowse link
G Fga fibrinogen alpha chain ISO renal amyloidosis,OMIM:105200;DNA:point mutation:exon:p.R554L (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:8097946, PMID:8639778, PMID:8097946 RGD:1601166 NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
JBrowse link
G Gsn gelsolin ISO DNA:point mutation: ;654G>A RGD PMID:2175344 RGD:1599858 NCBI chr 3:14,456,106...14,508,922
Ensembl chr 3:14,467,330...14,508,911
JBrowse link
G Lyz2 lysozyme 2 ISO RGD PMID:12675840, PMID:8464497 RGD:1599842, RGD:1599840 NCBI chr 7:60,335,968...60,341,264
Ensembl chr 7:60,335,969...60,341,264
JBrowse link
G Ret ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:12864791 NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Hereditary amyloidosis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17701470, PMID:18326041, PMID:32393063, PMID:15995833, PMID:15118671 RGD:1580526, RGD:1331525 NCBI chr18:15,532,963...15,542,180
Ensembl chr18:15,532,963...15,540,177
JBrowse link
familial visceral amyloidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Amyloidosis 8
ClinVar Annotator: match by term: Ostertag type amyloidosis
ClinVar Annotator: match by OMIM:105200
ClinVar Annotator: match by term: Amyloidosis, cardiac and cutaneous
OMIM
ClinVar
PMID:1502149, PMID:1901417, PMID:4304452, PMID:8675681, PMID:9916936, PMID:10198255, PMID:10487826, PMID:12050338, PMID:17303779, PMID:20884842, PMID:21820994, PMID:23209431, PMID:23770607, PMID:24081495, PMID:25034063, PMID:26530418, PMID:27135400, PMID:27785680, PMID:28492532, PMID:29353225 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by synonym: Ostertag type amyloidosis ClinVar
OMIM
PMID:22693999 NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
JBrowse link
G Fga fibrinogen alpha chain ISO ClinVar Annotator: match by term: Amyloidosis 8
ClinVar Annotator: match by term: Ostertag type amyloidosis
ClinVar Annotator: match by term: AFib amyloidosis
ClinVar Annotator: match by OMIM:105200
OMIM
ClinVar
PMID:8097946, PMID:8113408, PMID:8639778, PMID:8944230, PMID:9389696, PMID:10910940, PMID:12050338, PMID:12871326, PMID:16362348, PMID:19109585, PMID:19420351, PMID:25741868, PMID:28492532 NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
JBrowse link
G Lyz2 lysozyme 2 ISO ClinVar Annotator: match by term: Amyloidosis 8
ClinVar Annotator: match by OMIM:105200
OMIM
ClinVar
PMID:1808634, PMID:8464497, PMID:8566845, PMID:10534505, PMID:11849445, PMID:12360495, PMID:12675840, PMID:15745733, PMID:16523055, PMID:25741868 NCBI chr 7:60,335,968...60,341,264
Ensembl chr 7:60,335,969...60,341,264
JBrowse link
Finnish type amyloidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsn gelsolin ISO ClinVar Annotator: match by term: Meretoja syndrome
ClinVar Annotator: match by OMIM:105120
OMIM
ClinVar
PMID:1311149, PMID:1315718, PMID:1322359, PMID:1322360, PMID:1652889, PMID:1658654, PMID:1848334, PMID:2153578, PMID:2175344, PMID:2176481, PMID:2176550, PMID:4543600, PMID:6610849, PMID:6975851, PMID:7550233, PMID:7868127, PMID:8388189, PMID:11754099, PMID:25741868, PMID:28492532 NCBI chr 3:14,456,106...14,508,922
Ensembl chr 3:14,467,330...14,508,911
JBrowse link
frontotemporal dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca12 ATP binding cassette subfamily A member 12 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:30311386 NCBI chr 9:78,521,477...78,693,421
Ensembl chr 9:78,522,464...78,693,028
JBrowse link
G Abca7 ATP binding cassette subfamily A member 7 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 NCBI chr 7:12,742,433...12,762,423
Ensembl chr 7:12,742,433...12,762,341
JBrowse link
G App amyloid beta precursor protein ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:30311386 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
JBrowse link
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:1353340, PMID:10477432, PMID:12809637, PMID:16678723, PMID:18693274, PMID:18786133, PMID:23559313, PMID:25741868, PMID:25965562, PMID:26462614, PMID:28492532 NCBI chr 7:130,446,644...130,452,632
Ensembl chr 7:130,446,668...130,451,283
JBrowse link
G Bace2 beta-secretase 2 ISO mRNA,protein, activity:increased expression, increased activity:gyrus: RGD PMID:22074738 RGD:13782172 NCBI chr11:37,798,397...37,880,624
Ensembl chr11:37,798,370...37,880,821
JBrowse link
G Chmp2b charged multivesicular body protein 2B no_association ISO DNA:mutations:cds
ClinVar Annotator: match by term: Frontotemporal dementia
CTD Direct Evidence: marker/mechanism
DNA:mutations: :
ClinVar
CTD
PMID:16041373, PMID:26467025, PMID:28492532, PMID:16041373, PMID:16979267, PMID:19202337 RGD:5688398, RGD:5688721, RGD:5688716 NCBI chr11:2,666,405...2,692,213
Ensembl chr11:2,665,285...2,692,198
JBrowse link
G Csf1r colony stimulating factor 1 receptor ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 NCBI chr18:56,414,493...56,458,300
Ensembl chr18:56,414,488...56,458,300
JBrowse link
G Grn granulin precursor ISO DNA:mutations, haploinsufficiency: :
ClinVar Annotator: match by term: Frontotemporal dementia, ubiquitin-positive
CTD Direct Evidence: marker/mechanism
DNA:deletion:exon:
DNA:deletion: :g.102delC(humN)
DNA:missense mutation:signal peptide:p.A9D(human)
ClinVar
CTD
PMID:16862116, PMID:16950801, PMID:18234697, PMID:18723524, PMID:19158106, PMID:19683260, PMID:20045477, PMID:20142524, PMID:21403024, PMID:21454553, PMID:22028881, PMID:22491866, PMID:23463024, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30279455, PMID:16862116, PMID:18855025, PMID:19012866, PMID:16983685, PMID:21933710 RGD:5509588, RGD:5509612, RGD:5509609, RGD:5509602, RGD:5509589 NCBI chr10:90,377,103...90,383,207
Ensembl chr10:90,376,933...90,383,205
JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:30311386, PMID:17639429 RGD:5508418 NCBI chr 7:132,857,311...133,018,549
Ensembl chr 7:132,857,628...133,018,584
JBrowse link
G Mapt microtubule-associated protein tau no_association ISO DNA:missense mutations, splice site mutations:exon, intron:multiple
ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia
ClinVar Annotator: match by term: Frontotemporal dementia
ClinVar Annotator: match by term: FTLD WITH TAU INCLUSIONS
CTD Direct Evidence: marker/mechanism
DNA:mutation:splice junction: IVS10+16C>T(human)
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:600274
DNA:haplotype
ClinVar
CTD
OMIM
PMID:1416801, PMID:7783864, PMID:7936288, PMID:7977375, PMID:8926492, PMID:8940276, PMID:9088499, PMID:9382467, PMID:9392579, PMID:9629852, PMID:9636220, PMID:9641683, PMID:9736786, PMID:9789048, PMID:9811325, PMID:9824291, PMID:9836646, PMID:9973279, PMID:10076890, PMID:10100642, PMID:10100846, PMID:10202939, PMID:10208578, PMID:10214944, PMID:10218629, PMID:10219785, PMID:10318930, PMID:10329720, PMID:10359094, PMID:10360762, PMID:10374757, PMID:10412802, PMID:10443890, PMID:10446810, PMID:10489057, PMID:10514099, PMID:10553987, PMID:10561502, PMID:10624829, PMID:10627302, PMID:10767321, PMID:10797541, PMID:10802785, PMID:10820221, PMID:10821687, PMID:10822460, PMID:10865093, PMID:10932182, PMID:11013246, PMID:11071507, PMID:11081811, PMID:11102510, PMID:11115852, PMID:11117541, PMID:11117542, PMID:11117553, PMID:11159174, PMID:11255441, PMID:11278002, PMID:11402146, PMID:11456301, PMID:11598310, PMID:11641718, PMID:11708988, PMID:11738505, PMID:11756436, PMID:11756496, PMID:11889249, PMID:11891833, PMID:11912108, PMID:11921059, PMID:11971081, PMID:11971082, PMID:12325083, PMID:12368474, PMID:12473404, PMID:12473774, PMID:12509859, PMID:12565146, PMID:12615641, PMID:12722177, PMID:12756133, PMID:12796837, PMID:12847166, PMID:12876142, PMID:12975285, PMID:14517953, PMID:14568818, PMID:14755449, PMID:15178938, PMID:15178940, PMID:15365985, PMID:15372253, PMID:15376481, PMID:15489396, PMID:15883319, PMID:15904919, PMID:16219306, PMID:16240366, PMID:16495230, PMID:16495328, PMID:16571759, PMID:16818492, PMID:17071927, PMID:17715352, PMID:17923640, PMID:17950702, PMID:18284428, PMID:18357425, PMID:18525295, PMID:18587238, PMID:18803694, PMID:18854867, PMID:18992292, PMID:19091059, PMID:19304664, PMID:19365643, PMID:19458322, PMID:19498037, PMID:19659892, PMID:19766248, PMID:19786698, PMID:19884572, PMID:19914360, PMID:20045477, PMID:20130190, PMID:20377816, PMID:20561037, PMID:20598713, PMID:20634584, PMID:21176711, PMID:21339331, PMID:21343707, PMID:21344240, PMID:21492964, PMID:21555888, PMID:21849646, PMID:22022446, PMID:22127750, PMID:22169201, PMID:22312439, PMID:22556362, PMID:22595371, PMID:22723997, PMID:22787795, PMID:22818528, PMID:22906081, PMID:23043292, PMID:23047372, PMID:23053136, PMID:23105105, PMID:23338682, PMID:23383383, PMID:23518664, PMID:23659495, PMID:23680655, PMID:23692670, PMID:23727082, PMID:23881933, PMID:23885714, PMID:23990795, PMID:24018212, PMID:24081456, PMID:24150109, PMID:24218087, PMID:25004446, PMID:25151619, PMID:25319522, PMID:25466404, PMID:25592136, PMID:25604855, PMID:25671699, PMID:25683866, PMID:25741868, PMID:25937274, PMID:25942996, PMID:26028272, PMID:26136155, PMID:26143746, PMID:26200045, PMID:26220942, PMID:26269332, PMID:26295349, PMID:26333800, PMID:26373282, PMID:26426266, PMID:26467025, PMID:26519432, PMID:26601740, PMID:26931567, PMID:27082848, PMID:27094865, PMID:27439681, PMID:27594586, PMID:27606344, PMID:27975259, PMID:28097206, PMID:28130473, PMID:28334843, PMID:28462717, PMID:28492532, PMID:28923025, PMID:30279455, PMID:177121602, PMID:9641683, PMID:16407562, PMID:19766248, PMID:17386961 RGD:1302531, RGD:10412702, RGD:10412699, RGD:8158108 NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
JBrowse link
G Marchf4 membrane associated ring-CH-type finger 4 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:29476165 NCBI chr 9:79,781,752...79,898,726
Ensembl chr 9:79,782,845...79,898,912
JBrowse link
G Masp2 mannan-binding lectin serine peptidase 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:24033266, PMID:28492532 NCBI chr 5:165,415,105...165,429,857
Ensembl chr 5:165,415,136...165,430,054
JBrowse link
G Mef2c myocyte enhancer factor 2C ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar NCBI chr 2:11,658,534...11,822,788
Ensembl chr 2:11,658,568...11,822,787
JBrowse link
G Mobp myelin-associated oligodendrocyte basic protein disease_progression ISO DNA:SNP: :rs1768208(human) RGD PMID:24994843 RGD:27226701 NCBI chr 8:128,824,420...128,854,492
Ensembl chr 8:128,824,508...128,850,358
JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:26467025, PMID:28492532 NCBI chr11:2,645,659...2,662,581
Ensembl chr11:2,645,865...2,662,579
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase disease_progression ISO RGD PMID:18817929 RGD:10412726 NCBI chr 1:48,880,015...50,069,998 JBrowse link
G Psen1 presenilin 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11094121, PMID:11895378, PMID:15776278, PMID:17431506, PMID:20332427, PMID:20634584, PMID:22475797, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30279455 NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
JBrowse link
G Tardbp TAR DNA binding protein ISO
ISS
ClinVar Annotator: match by term: Frontotemporal dementia
OMIM:600274 | OMIM:600795
ClinVar
MouseDO
PMID:19411082, PMID:20082726, PMID:20675015, PMID:20708823, PMID:22575358, PMID:24033266, PMID:26467025, PMID:28492532 NCBI chr 5:165,432,089...165,442,232
Ensembl chr 5:165,432,095...165,442,048
JBrowse link
G Tm2d3 TM2 domain containing 3 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 NCBI chr 1:126,573,474...126,595,778
Ensembl chr 1:126,586,543...126,595,603
JBrowse link
G Tnk1 tyrosine kinase, non-receptor, 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 NCBI chr10:56,458,650...56,475,183
Ensembl chr10:56,459,108...56,465,393
JBrowse link
G Trem2 triggering receptor expressed on myeloid cells 2 ISS OMIM:600274 | OMIM:600795 MouseDO NCBI chr 9:14,611,541...14,618,076
Ensembl chr 9:14,611,561...14,618,013
JBrowse link
G Vps13c vacuolar protein sorting 13 homolog C ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 NCBI chr 8:73,682,814...73,843,290
Ensembl chr 8:73,682,887...73,842,928
JBrowse link
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam10 ADAM metallopeptidase domain 10 ISO ClinVar Annotator: match by term: Corticobasal syndrome ClinVar PMID:25741868 NCBI chr 8:77,107,355...77,237,483
Ensembl chr 8:77,107,536...77,237,483
JBrowse link
G RGD1359108 similar to RIKEN cDNA 3110043O21 ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis/Frontotemporal Dementia ClinVar NCBI chr 5:50,666,444...50,691,523
Ensembl chr 5:50,668,040...50,684,409
JBrowse link
G Ttc3 tetratricopeptide repeat domain 3 ISO ClinVar Annotator: match by term: Corticobasal syndrome ClinVar PMID:25741868 NCBI chr11:34,598,324...34,739,986
Ensembl chr11:34,598,492...34,738,791
JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis-1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RGD1359108 similar to RIKEN cDNA 3110043O21 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis and/or frontotemporal dementia 1
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:26769963, PMID:28492532 NCBI chr 5:50,666,444...50,691,523
Ensembl chr 5:50,668,040...50,684,409
JBrowse link
G Sqstm1 sequestosome 1 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 ClinVar PMID:11992264, PMID:12374763, PMID:15125799, PMID:15146436, PMID:15176995, PMID:15493999, PMID:15647816, PMID:15765181, PMID:16691492, PMID:16813535, PMID:17129171, PMID:17229007, PMID:18543015, PMID:18765443, PMID:19257822, PMID:19589897, PMID:20499339, PMID:21195346, PMID:21515589, PMID:21878516, PMID:22084127, PMID:22491873, PMID:22972638, PMID:23303844, PMID:23417734, PMID:23447461, PMID:23612225, PMID:23812289, PMID:23820649, PMID:23942205, PMID:24033266, PMID:24042580, PMID:24486447, PMID:24899140, PMID:25241215, PMID:25382069, PMID:25512523, PMID:25664955, PMID:25708934, PMID:25741868, PMID:25796131, PMID:25852467, PMID:26208961, PMID:26467025, PMID:26627873, PMID:26713335, PMID:26836416, PMID:27275741, PMID:27545679, PMID:27594680, PMID:28430856, PMID:28492532, PMID:28642336, PMID:29457785, PMID:29599744, PMID:29895397, PMID:30154079 NCBI chr10:35,704,728...35,716,316
Ensembl chr10:35,704,730...35,716,294
JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis-2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 OMIM
ClinVar
PMID:24934289, PMID:25113787, PMID:25155093, PMID:25193783, PMID:25261972, PMID:25348631, PMID:25576308, PMID:25681414, PMID:25741868, PMID:25833818, PMID:26152333, PMID:28492532, PMID:28585542, PMID:29112723, PMID:29121267, PMID:29315381, PMID:29789341, PMID:30014597 NCBI chr20:13,665,046...13,666,845
Ensembl chr20:13,665,031...13,667,333
JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis-3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sqstm1 sequestosome 1 ISO ClinVar Annotator: match by term: FTDALS3
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
ClinVar Annotator: match by OMIM:616437
OMIM
ClinVar
PMID:11992264, PMID:15176995, PMID:15493999, PMID:15647816, PMID:15765181, PMID:16813535, PMID:17229007, PMID:18543015, PMID:18765443, PMID:19257822, PMID:19589897, PMID:20499339, PMID:21195346, PMID:21515589, PMID:21878516, PMID:22084127, PMID:23417734, PMID:23942205, PMID:24033266, PMID:24042580, PMID:24486447, PMID:24899140, PMID:25241215, PMID:25741868, PMID:26627873, PMID:26713335, PMID:27275741, PMID:27594680, PMID:28430856, PMID:28492532, PMID:29457785, PMID:29599744, PMID:30154079 NCBI chr10:35,704,728...35,716,316
Ensembl chr10:35,704,730...35,716,294
JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis-4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ClinVar PMID:25741868 NCBI chr 7:70,515,832...70,552,897
Ensembl chr 7:70,513,343...70,556,827
JBrowse link
G Tbk1 TANK-binding kinase 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ClinVar
OMIM
PMID:25700176, PMID:25741868, PMID:25803835, PMID:25943890, PMID:26476236, PMID:26581300, PMID:28008748, PMID:28365590, PMID:28492532, PMID:28822984, PMID:30033073, PMID:30311386 NCBI chr 7:63,655,247...63,687,978
Ensembl chr 7:63,655,247...63,687,978
JBrowse link
Frontotemporal Lobar Degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bdnf brain-derived neurotrophic factor no_association ISO DNA:polymorphisms: :196G>A (p.V66M), 11757G>C (human)
DNA:SNP: :rs2049045 (human)
RGD PMID:22596272, PMID:22596272 RGD:10059351, RGD:10059351 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Chmp2b charged multivesicular body protein 2B no_association ISO CTD Direct Evidence: marker/mechanism CTD PMID:17956895, PMID:22366797, PMID:20412296 RGD:5688397, RGD:5688712 NCBI chr11:2,666,405...2,692,213
Ensembl chr11:2,665,285...2,692,198
JBrowse link
G Fus FUS RNA binding protein ISO RGD PMID:21847626, PMID:21408206 RGD:5509902, RGD:9685710 NCBI chr 1:199,412,805...199,426,705
Ensembl chr 1:199,412,834...199,426,702
JBrowse link
G Grn granulin precursor onset ISO DNA, protein:mutations, decreased expression:plasma:multiple
CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs9897526 (human)
DNA:frameshift mutation, missense mutations, nonsense mutation:exon:multiple
DNA:mutation:intron:IVS6-1G>A (human)
DNA:hypermethylation:promoter
CTD PMID:20154673, PMID:19158106, PMID:18192287, PMID:17228326, PMID:17950702, PMID:22797721 RGD:10401634, RGD:10401650, RGD:10401647, RGD:10401638, RGD:10401637 NCBI chr10:90,377,103...90,383,207
Ensembl chr10:90,376,933...90,383,205
JBrowse link
G Hsp90aa1 heat shock protein 90 alpha family class A member 1 ISO protein:decreased phosphorylation:frontal cortex (human) RGD PMID:20886841 RGD:10412651 NCBI chr 6:135,107,262...135,112,793
Ensembl chr 6:135,107,271...135,112,775
JBrowse link
G Optn optineurin ISO RGD PMID:21360076 RGD:6480505 NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389
JBrowse link
G RGD1359108 similar to RIKEN cDNA 3110043O21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27713094 NCBI chr 5:50,666,444...50,691,523
Ensembl chr 5:50,668,040...50,684,409
JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24885036 NCBI chr 5:58,121,824...58,124,687
Ensembl chr 5:58,121,786...58,124,681
JBrowse link
G Tardbp TAR DNA binding protein ISO CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:p.A382T (human)
protein:increased phosphorylation:brain
CTD PMID:24019256, PMID:24252504, PMID:24477737, PMID:22177996, PMID:21667065, PMID:20660618, PMID:17023659 RGD:5687136, RGD:5687172, RGD:5687159, RGD:5687158 NCBI chr 5:165,432,089...165,442,232
Ensembl chr 5:165,432,095...165,442,048
JBrowse link
G Tmem106b transmembrane protein 106B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20154673 NCBI chr 4:39,517,679...39,534,491
Ensembl chr 4:39,517,548...39,535,169
JBrowse link
gelatinous drop-like corneal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clu clusterin ISO RGD PMID:10502582 RGD:8699502 NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
JBrowse link
G Tacstd2 tumor-associated calcium signal transducer 2 ISO ClinVar Annotator: match by term: Lattice corneal dystrophy Type III
ClinVar Annotator: match by OMIM:204870
OMIM
ClinVar
PMID:10192395, PMID:12107443, PMID:15652848, PMID:28492532 NCBI chr 4:98,341,187...98,342,887
Ensembl chr 4:98,341,188...98,342,887
JBrowse link
GRN-related frontotemporal lobar degeneration with TDP43 inclusions term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asb16 ankyrin repeat and SOCS box-containing 16 ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:90,217,979...90,224,984
Ensembl chr10:90,217,924...90,226,537
JBrowse link
G Atxn7l3 ataxin 7-like 3 ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:90,234,749...90,241,757
Ensembl chr10:90,236,928...90,240,509
JBrowse link
G G6pc3 glucose 6 phosphatase catalytic subunit 3 ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:90,134,193...90,138,425
Ensembl chr10:90,134,193...90,138,425
JBrowse link
G Grn granulin precursor ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions
ClinVar Annotator: match by term: Frontotemporal dementia, ubiquitin-positive
ClinVar Annotator: match by OMIM:607485
ClinVar
OMIM
PMID:6497355, PMID:9152110, PMID:9259373, PMID:9633693, PMID:12476321, PMID:16401619, PMID:16495329, PMID:16862115, PMID:16862116, PMID:16950801, PMID:16983677, PMID:16983685, PMID:17071927, PMID:17202431, PMID:17210807, PMID:17228326, PMID:17334266, PMID:17345602, PMID:17371905, PMID:17436289, PMID:17439980, PMID:17522386, PMID:17620546, PMID:17698705, PMID:17826340, PMID:17923627, PMID:17949857, PMID:17984093, PMID:18183624, PMID:18184915, PMID:18192287, PMID:18223198, PMID:18234697, PMID:18245784, PMID:18314228, PMID:18322394, PMID:18392865, PMID:18413474, PMID:18464284, PMID:18543312, PMID:18551524, PMID:18565828, PMID:18703462, PMID:18723524, PMID:18752597, PMID:18838661, PMID:18855025, PMID:19012866, PMID:19158106, PMID:19288468, PMID:19632744, PMID:19649643, PMID:19683260, PMID:19766663, PMID:19858458, PMID:19884572, PMID:20020531, PMID:20028451, PMID:20045477, PMID:20087814, PMID:20142524, PMID:20142525, PMID:20301545, PMID:20522652, PMID:21403024, PMID:21454553, PMID:21482928, PMID:21569259, PMID:21800185, PMID:22312439, PMID:22366795, PMID:22491866, PMID:22608501, PMID:22647257, PMID:22781549, PMID:22906081, PMID:22995991, PMID:23338682, PMID:23463024, PMID:23624518, PMID:23684369, PMID:23724906, PMID:23742080, PMID:23759146, PMID:23813535, PMID:23990795, PMID:24022032, PMID:24503614, PMID:24703252, PMID:25104557, PMID:25741868, PMID:26075876, PMID:26159191, PMID:26467025, PMID:26652843, PMID:26791154, PMID:26811050, PMID:27082848, PMID:27258413, PMID:27311648, PMID:27341800, PMID:27632209, PMID:27790088, PMID:27884173, PMID:27997711, PMID:28000352, PMID:28264768, PMID:28473694, PMID:28492532, PMID:29339765, PMID:30279455, PMID:19649643 RGD:5509604 NCBI chr10:90,377,103...90,383,207
Ensembl chr10:90,376,933...90,383,205
JBrowse link
G Hdac5 histone deacetylase 5 ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:90,140,183...90,169,853
Ensembl chr10:90,140,183...90,151,042
JBrowse link
G Hrob homologous recombination factor with OB-fold ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:90,192,608...90,214,486
Ensembl chr10:90,192,627...90,214,486
JBrowse link
G Lsm12 LSM12 homolog ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:90,105,562...90,127,600
Ensembl chr10:90,105,562...90,127,600
JBrowse link
G Rundc3a RUN domain containing 3A ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:90,342,033...90,351,172
Ensembl chr10:90,342,051...90,351,170
JBrowse link
G Slc25a39 solute carrier family 25, member 39 ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:90,351,899...90,356,905
Ensembl chr10:90,351,900...90,356,242
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
G Tardbp TAR DNA binding protein ISS OMIM:607485 MouseDO NCBI chr 5:165,432,089...165,442,232
Ensembl chr 5:165,432,095...165,442,048
JBrowse link
G Tmub2 transmembrane and ubiquitin-like domain containing 2 ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:90,230,428...90,234,874
Ensembl chr10:90,230,441...90,234,873
JBrowse link
G Ubtf upstream binding transcription factor ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:90,250,275...90,265,772
Ensembl chr10:90,250,275...90,265,017
JBrowse link
Immunoglobulin Light-chain Amyloidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:renal glomeruli (human) RGD PMID:16164636 RGD:7207084 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:renal glomeruli (human) RGD PMID:16164636 RGD:7207084 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO protein:increased expression:renal glomeruli (human) RGD PMID:16164636 RGD:7207084 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
JBrowse link
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 OMIM
ClinVar
PMID:7182974, PMID:15034582, PMID:16247064, PMID:16321991, PMID:16790606, PMID:16984901, PMID:17329348, PMID:17763460, PMID:17889967, PMID:18341608, PMID:19225410, PMID:19237541, PMID:19364651, PMID:19704082, PMID:20008565, PMID:20104022, PMID:20512113, PMID:20604808, PMID:21145000, PMID:21249466, PMID:21320982, PMID:21387114, PMID:21816654, PMID:21822278, PMID:21920633, PMID:21984748, PMID:22078486, PMID:22137929, PMID:22270372, PMID:22572540, PMID:22686199, PMID:22898872, PMID:22900631, PMID:22909335, PMID:23029473, PMID:23056506, PMID:23152587, PMID:23169451, PMID:23333620, PMID:23498975, PMID:24123792, PMID:24196964, PMID:24829604, PMID:25125609, PMID:25326637, PMID:25388089, PMID:25492614, PMID:25617006, PMID:25741868, PMID:25775548, PMID:26105173, PMID:26467025, PMID:26555887, PMID:26627873, PMID:27165006, PMID:27226613, PMID:27768726, PMID:28130640, PMID:28360103, PMID:28492532, PMID:28692196 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
JBrowse link
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO ClinVar Annotator: match by term: Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 ClinVar
OMIM
PMID:11891683, PMID:23455423, PMID:25741868, PMID:28492532 NCBI chr 4:81,237,496...81,241,281
Ensembl chr 4:81,237,496...81,241,282
JBrowse link
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO ClinVar Annotator: match by term: Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3
ClinVar Annotator: match by OMIM:615424
OMIM
ClinVar
PMID:20116073, PMID:23455423, PMID:25616961, PMID:25741868 NCBI chr 7:144,865,302...144,871,592
Ensembl chr 7:144,865,608...144,871,585
JBrowse link
inclusion body myopathy with Paget disease of bone and frontotemporal dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Egf epidermal growth factor ISO protein:increased expression:plasma RGD PMID:24119107 RGD:10059681 NCBI chr 2:68,820,616...68,895,537 JBrowse link
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:144,865,302...144,871,592
Ensembl chr 7:144,865,608...144,871,585
JBrowse link
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO DNA:missense mutation:cds:p.D290V (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:23455423 RGD:10395280 NCBI chr 4:81,237,496...81,241,281
Ensembl chr 4:81,237,496...81,241,282
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:plasma RGD PMID:24119107 RGD:10059681 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Vcp valosin-containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25884947 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
JBrowse link
ITM2B-related cerebral amyloid angiopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by OMIM:176500 ClinVar
OMIM
PMID:10391242, PMID:21610757, PMID:11159188 RGD:1358403 NCBI chr15:55,254,703...55,277,713
Ensembl chr15:55,254,706...55,277,713
JBrowse link
ITM2B-related cerebral amyloid angiopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica
ClinVar Annotator: match by OMIM:117300
OMIM
ClinVar
PMID:5457846, PMID:10781099, PMID:25741868 NCBI chr15:55,254,703...55,277,713
Ensembl chr15:55,254,706...55,277,713
JBrowse link
Juvenile Amyotrophic Lateral Sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: ALS, JUVENILE ClinVar PMID:18852346, PMID:23881933, PMID:25174650, PMID:25588603, PMID:25741868, PMID:26467025, PMID:27159321, PMID:27790088, PMID:28430856, PMID:28492532, PMID:28832565, PMID:30311386 NCBI chr 9:65,961,361...66,034,396
Ensembl chr 9:65,961,346...66,033,871
JBrowse link
G Erlin1 ER lipid raft associated 1 ISO ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 1:263,810,439...263,845,762
Ensembl chr 1:263,810,439...263,845,762
JBrowse link
G Fus FUS RNA binding protein ISO ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis ClinVar PMID:19251627, PMID:19450904, PMID:20579074, PMID:20606625, PMID:20668261, PMID:21280085, PMID:21604077, PMID:21881207, PMID:21907581, PMID:21949354, PMID:22980027, PMID:23056579, PMID:23085990, PMID:23881933, PMID:24899262, PMID:25173930, PMID:25625564, PMID:25741868, PMID:26251528, PMID:26467025, PMID:27123482, PMID:28492532 NCBI chr 1:199,412,805...199,426,705
Ensembl chr 1:199,412,834...199,426,702
JBrowse link
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 5:169,244,778...169,288,310
Ensembl chr 5:169,244,778...169,288,309
JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis ClinVar PMID:25741868 NCBI chr 1:41,608,287...41,763,591
NCBI chr 1:41,844,840...42,086,662
Ensembl chr 1:41,608,418...42,077,535
JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 ISO ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis ClinVar PMID:16051700, PMID:19405049, PMID:25741868 NCBI chr 3:119,258,189...119,347,084
Ensembl chr 3:119,259,467...119,330,345
JBrowse link
G Vrk1 VRK serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis ClinVar PMID:24088041, PMID:25741868, PMID:26583493, PMID:26633545, PMID:28492532 NCBI chr 6:129,835,788...129,902,839
Ensembl chr 6:129,835,919...129,902,793
JBrowse link
juvenile amyotrophic lateral sclerosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 2
ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE
ClinVar Annotator: match by term: ALS2-Related Spectrum Disorders
ClinVar Annotator: match by term: ALS, JUVENILE
ClinVar Annotator: match by OMIM:205100
OMIM
ClinVar
PMID:1606479, PMID:2328408, PMID:7920663, PMID:11586297, PMID:12145748, PMID:12601111, PMID:16240357, PMID:16321985, PMID:18852346, PMID:23881933, PMID:24315819, PMID:24562058, PMID:25174650, PMID:25558820, PMID:25588603, PMID:25741868, PMID:26257771, PMID:26467025, PMID:27159321, PMID:27790088, PMID:28135719, PMID:28430856, PMID:28492532, PMID:28832565, PMID:30311386, PMID:32214227 NCBI chr 9:65,961,361...66,034,396
Ensembl chr 9:65,961,346...66,033,871
JBrowse link
juvenile amyotrophic lateral sclerosis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Setx senataxin ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 4
ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, WITH PYRAMIDAL FEATURES
ClinVar Annotator: match by OMIM:602433
OMIM
ClinVar
PMID:9497266, PMID:14770181, PMID:15106121, PMID:15732101, PMID:17096168, PMID:17159128, PMID:18058631, PMID:19141356, PMID:19569000, PMID:19696032, PMID:20540686, PMID:20981092, PMID:21190393, PMID:21438761, PMID:21576111, PMID:22088787, PMID:22995991, PMID:23129421, PMID:23566282, PMID:23881933, PMID:23941260, PMID:24033266, PMID:24105744, PMID:24244371, PMID:24814856, PMID:25025039, PMID:25174650, PMID:25299611, PMID:25353622, PMID:25382069, PMID:25741868, PMID:25802885, PMID:26467025, PMID:26601740, PMID:27013921, PMID:27790088, PMID:28130640, PMID:28492532, PMID:28642336, PMID:28708278, PMID:28709720, PMID:28832565, PMID:29170628, PMID:29411640, PMID:29650794, PMID:30220148, PMID:30311386 NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539
JBrowse link
juvenile amyotrophic lateral sclerosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 5
ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE
OMIM
ClinVar
PMID:17322883, PMID:17717710, PMID:18067136, PMID:18079167, PMID:18332254, PMID:18835492, PMID:19105190, PMID:19438933, PMID:20110243, PMID:22175763, PMID:22237444, PMID:22696581, PMID:23443022, PMID:24833714, PMID:25326635, PMID:25741868, PMID:26467025, PMID:26556829, PMID:27066562, PMID:27071356, PMID:27217339, PMID:28160950, PMID:28492532, PMID:28554332, PMID:28832565, PMID:29525178, PMID:30363882 NCBI chr 3:113,999,600...114,064,438
Ensembl chr 3:113,999,719...114,065,170
JBrowse link
lattice corneal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor, beta induced ISS OMIM:122200 MouseDO NCBI chr17:8,400,123...8,429,338
Ensembl chr17:8,400,146...8,429,338
JBrowse link
Lattice Corneal Dystrophy Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor, beta induced ISO ClinVar Annotator: match by OMIM:122200 OMIM
ClinVar
PMID:9054935, PMID:9559741 NCBI chr17:8,400,123...8,429,338
Ensembl chr17:8,400,146...8,429,338
JBrowse link
Lattice Corneal Dystrophy, Type IIIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor, beta induced ISO ClinVar Annotator: match by term: Lattice corneal dystrophy type 3A OMIM
ClinVar
PMID:9497262, PMID:11004271, PMID:11024425, PMID:11923233, PMID:12400061, PMID:15790870, PMID:16809844, PMID:19337156, PMID:21462384, PMID:23884333, PMID:25741868, PMID:26748743 NCBI chr17:8,400,123...8,429,338
Ensembl chr17:8,400,146...8,429,338
JBrowse link
Muckle-Wells syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1rn interleukin 1 receptor antagonist ISO RGD PMID:22146561 RGD:6906895 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by term: UDA syndrome
ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME
ClinVar Annotator: match by OMIM:191900
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11687797, PMID:11992256, PMID:12032915, PMID:12522564, PMID:15020601, PMID:16100350, PMID:16255047, PMID:17178739, PMID:17509468, PMID:18263599, PMID:18311798, PMID:19319132, PMID:19501000, PMID:20182451, PMID:20472245, PMID:21109514, PMID:21245836, PMID:21356079, PMID:21621776, PMID:22128899, PMID:22193915, PMID:22403613, PMID:22524199, PMID:22529966, PMID:22843550, PMID:22935299, PMID:23015306, PMID:23442610, PMID:23703389, PMID:24033266, PMID:24098386, PMID:24135410, PMID:24158955, PMID:24365011, PMID:24431285, PMID:24517500, PMID:24649046, PMID:24759409, PMID:24773462, PMID:25586466, PMID:25596455, PMID:25730877, PMID:25741868, PMID:25766347, PMID:25821352, PMID:25979514, PMID:26020059, PMID:26033552, PMID:26178285, PMID:26218404, PMID:26245507, PMID:26273672, PMID:26386126, PMID:26467025, PMID:26531310, PMID:26535712, PMID:26590045, PMID:26848126, PMID:26931528, PMID:27036377, PMID:27060062, PMID:27191192, PMID:27819323, PMID:27943647, PMID:28028683, PMID:28137891, PMID:28185410, PMID:28421071, PMID:28492532, PMID:28692792, PMID:29047407, PMID:29102545, PMID:29117789, PMID:29148409, PMID:29322034, PMID:29977033, PMID:30214525, PMID:30431487 NCBI chr10:45,884,324...45,918,290
Ensembl chr10:45,893,018...45,918,254
JBrowse link
Pick's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atf2 activating transcription factor 2 ISO RGD PMID:16496165 RGD:10047401 NCBI chr 3:60,721,137...60,795,951
Ensembl chr 3:60,721,135...60,795,951
JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO protein:decreased expression:frontal cortex RGD PMID:16496165, PMID:17548164 RGD:10047401, RGD:10047402 NCBI chr 9:71,229,753...71,298,994
Ensembl chr 9:71,230,108...71,293,435
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO protein:decreased expression:frontal cortex RGD PMID:17548164 RGD:10047402 NCBI chr 6:109,300,433...109,303,299
Ensembl chr 6:109,300,433...109,303,299
JBrowse link
G Hnmt histamine N-methyltransferase ISO RGD PMID:11880199 RGD:5509779 NCBI chr 3:905,111...937,038
Ensembl chr 3:904,765...937,102
JBrowse link
G Map2k6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:12392790 RGD:7495833 NCBI chr10:98,707,160...98,823,054
Ensembl chr10:98,706,960...98,823,287
JBrowse link
G Mapt microtubule-associated protein tau ISO ClinVar Annotator: match by term: Pick's disease
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:172700
OMIM
ClinVar
CTD
PMID:9641683, PMID:10604746, PMID:11032905, PMID:11117542, PMID:11601501, PMID:11891833, PMID:18067537, PMID:23043292, PMID:25741868, PMID:26467025, PMID:27582388, PMID:27641626, PMID:27802239, PMID:28492532 NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
JBrowse link
G Psen1 presenilin 1 ISO ClinVar Annotator: match by term: Pick's disease
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9450754, PMID:15122701, PMID:15622541 NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
JBrowse link
G Snca synuclein alpha ISO protein:increased expression:dentate gyrus RGD PMID:12410393 RGD:6480200 NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
JBrowse link
G Sncb synuclein, beta ISO protein:increased expression:dentate gyrus RGD PMID:12410393 RGD:6480200 NCBI chr17:10,384,472...10,392,776
Ensembl chr17:10,384,511...10,392,843
JBrowse link
G Tardbp TAR DNA binding protein ISO RGD PMID:18091558 RGD:5687194 NCBI chr 5:165,432,089...165,442,232
Ensembl chr 5:165,432,095...165,442,048
JBrowse link
primary cutaneous amyloidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO protein:increased expression:skin: RGD PMID:9740234 RGD:7771598 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Il31ra interleukin 31 receptor A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:44,333,347...44,408,005
Ensembl chr 2:44,336,006...44,394,709
JBrowse link
G Osmr oncostatin M receptor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:56,107,491...56,163,522
Ensembl chr 2:56,110,777...56,151,531
JBrowse link
Primary Localized Cutaneous Amyloidosis, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Osmr oncostatin M receptor ISO ClinVar Annotator: match by term: Primary localized cutaneous amyloidosis 1 OMIM
ClinVar
PMID:18179886, PMID:19690585 NCBI chr 2:56,107,491...56,163,522
Ensembl chr 2:56,110,777...56,151,531
JBrowse link
Primary Localized Cutaneous Amyloidosis, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il31ra interleukin 31 receptor A ISO ClinVar Annotator: match by OMIM:613955 OMIM
ClinVar
PMID:19690585 NCBI chr 2:44,333,347...44,408,005
Ensembl chr 2:44,336,006...44,394,709
JBrowse link
Primary Localized Cutaneous Amyloidosis, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpnmb glycoprotein nmb ISO ClinVar Annotator: match by term: AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3 ClinVar
OMIM
PMID:19416385, PMID:29336782 NCBI chr 4:78,694,447...78,715,685
Ensembl chr 4:78,694,447...78,715,683
JBrowse link
Primary Progressive Nonfluent Aphasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbk1 TANK-binding kinase 1 ISO ClinVar Annotator: match by term: Primary progressive non fluent aphasia ClinVar NCBI chr 7:63,655,247...63,687,978
Ensembl chr 7:63,655,247...63,687,978
JBrowse link
transthyretin amyloidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsc1 desmocollin 1 ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis ClinVar PMID:28492532 NCBI chr18:11,877,918...11,906,828
Ensembl chr18:11,877,561...11,906,827
JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis ClinVar PMID:28492532 NCBI chr18:11,826,705...11,858,801
Ensembl chr18:11,826,706...11,858,754
JBrowse link
G Dsg1 desmoglein 1 ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis ClinVar PMID:28492532 NCBI chr18:12,008,301...12,040,337
Ensembl chr18:12,008,759...12,038,053
JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis ClinVar PMID:28492532 NCBI chr18:15,579,322...15,637,720
Ensembl chr18:15,579,315...15,637,715
JBrowse link
G Dsg3 desmoglein 3 ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis ClinVar PMID:28492532 NCBI chr18:15,652,948...15,688,605
Ensembl chr18:15,650,526...15,688,284
JBrowse link
G Dsg4 desmoglein 4 ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis ClinVar PMID:28492532 NCBI chr18:12,056,113...12,092,858
Ensembl chr18:12,056,113...12,092,858
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis ClinVar PMID:11499719, PMID:12974739, PMID:15519027, PMID:17560888, PMID:22464770, PMID:22763267, PMID:22995991, PMID:23217326, PMID:23233322, PMID:23820649, PMID:24033266, PMID:24055113, PMID:25637381, PMID:25741868, PMID:26090888, PMID:26332594, PMID:28492532 NCBI chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
JBrowse link
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis ClinVar PMID:24033266, PMID:24510615, PMID:25741868, PMID:28492532 NCBI chr 8:119,030,852...119,036,996
Ensembl chr 8:119,030,875...119,036,996
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis ClinVar PMID:25351510, PMID:25741868, PMID:28492532, PMID:28600387 NCBI chr11:88,912,163...88,972,213 JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis ClinVar PMID:11815426, PMID:12860912, PMID:15524171, PMID:15607392, PMID:18175163, PMID:21310275, PMID:23967088, PMID:24033266, PMID:24510615, PMID:25324519, PMID:25741868, PMID:25940119, PMID:28492532 NCBI chr 1:72,882,806...72,886,490
Ensembl chr 1:72,882,806...72,886,488
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis
ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis
ClinVar PMID:23861362, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 3:63,565,160...63,837,815 JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis
ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
ClinVar Annotator: match by OMIM:105210
ClinVar Annotator: match by term: AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED
OMIM
ClinVar
CTD
PMID:192115, PMID:1301926, PMID:1330202, PMID:1335038, PMID:1350083, PMID:1351039, PMID:1353008, PMID:1353861, PMID:1355416, PMID:1356051, PMID:1358785, PMID:1362222, PMID:1436517, PMID:1490495, PMID:1520326, PMID:1520336, PMID:1544214, PMID:1547960, PMID:1570831, PMID:1618497, PMID:1626556, PMID:1626570, PMID:1644201, PMID:1656975, PMID:1664269, PMID:1729888, PMID:1729893, PMID:1734866, PMID:1786038, PMID:1850190, PMID:1850191, PMID:1867256, PMID:1877623, PMID:1932142, PMID:1977686, PMID:1979335, PMID:1981182, PMID:1992765, PMID:1997217, PMID:2002274, PMID:2046936, PMID:2063870, PMID:2122246, PMID:2161654, PMID:2174830, PMID:2237288, PMID:2320592, PMID:2349941, PMID:2360796, PMID:2363717, PMID:2510740, PMID:2564060, PMID:2590199, PMID:2613237, PMID:2624269, PMID:2646319, PMID:2714785, PMID:2840822, PMID:2856994, PMID:2857043, PMID:2877582, PMID:2891727, PMID:2896079, PMID:2981253, PMID:3011930, PMID:3022107, PMID:3022108, PMID:3022697, PMID:3030336, PMID:3097057, PMID:3178532, PMID:3229002, PMID:3457802, PMID:3479441, PMID:3627183, PMID:3676699, PMID:3722385, PMID:3760189, PMID:3908483, PMID:3934968, PMID:4079954, PMID:4138132, PMID:4354899, PMID:4884226, PMID:4952599, PMID:5507249, PMID:5652991, PMID:5799493, PMID:6087811, PMID:6099706, PMID:6100724, PMID:6168726, PMID:6208668, PMID:6300852, PMID:6310716, PMID:6311926, PMID:6487335, PMID:6549130, PMID:6583672, PMID:6651852, PMID:6736244, PMID:6782125, PMID:7018469, PMID:7389759, PMID:7417777, PMID:7599630, PMID:7608709, PMID:7643356, PMID:7655883, PMID:7656439, PMID:7839813, PMID:7868124, PMID:7906282, PMID:7910950, PMID:7914929, PMID:7923855, PMID:7951260, PMID:8038017, PMID:8064809, PMID:8081397, PMID:8095073, PMID:8095301, PMID:8095302, PMID:8100581, PMID:8102146, PMID:8133316, PMID:8194279, PMID:8218290, PMID:8257997, PMID:8275943, PMID:8345041, PMID:8352764, PMID:8406434, PMID:8428916, PMID:8509786, PMID:8563114, PMID:8579098, PMID:8692810, PMID:8698351, PMID:8721565, PMID:8778271, PMID:8784093, PMID:8857732, PMID:8960746, PMID:8990019, PMID:9017939, PMID:9017946, PMID:9066351, PMID:9090525, PMID:9196903, PMID:9215058, PMID:9268242, PMID:9395311, PMID:9428731, PMID:9475090, PMID:9547003, PMID:9605286, PMID:9701270, PMID:9717013, PMID:9748014, PMID:9748569, PMID:9771673, PMID:9798666, PMID:9818054, PMID:9818883, PMID:9843084, PMID:10071047, PMID:10439117, PMID:10453736, PMID:10465115, PMID:10488818, PMID:10506096, PMID:10529370, PMID:10611949, PMID:10611950, PMID:10627135, PMID:10762172, PMID:10772944, PMID:10842705, PMID:10842715, PMID:10842718, PMID:10845569, PMID:10923048, PMID:11261421, PMID:11385707, PMID:11445644, PMID:11577236, PMID:11709003, PMID:11752419, PMID:11752443, PMID:11812437, PMID:11866053, PMID:11940682, PMID:12000195, PMID:12000196, PMID:12039669, PMID:12050338, PMID:12217248, PMID:12433265, PMID:12440483, PMID:12440486, PMID:12557757, PMID:12557758, PMID:12566023, PMID:12588803, PMID:12617705, PMID:12771253, PMID:12779320, PMID:12874413, PMID:12874414, PMID:12874858, PMID:13367520, PMID:13593935, PMID:13894830, PMID:14404854, PMID:14569203, PMID:14627687, PMID:14640030, PMID:14640031, PMID:14673473, PMID:14695346, PMID:14724437, PMID:14968122, PMID:14986482, PMID:15110620, PMID:15123043, PMID:15185492, PMID:15205369, PMID:15217993, PMID:15249622, PMID:15299606, PMID:15377697, PMID:15478468, PMID:15523922, PMID:15645642, PMID:15735344, PMID:15793844, PMID:15820680, PMID:15930086, PMID:16011990, PMID:16076613, PMID:16194874, PMID:16194875, PMID:16357452, PMID:16362527, PMID:16399646, PMID:16432141, PMID:16448460, PMID:16530227, PMID:16631014, PMID:16631015, PMID:16911959, PMID:17028027, PMID:17143887, PMID:17251346, PMID:17338921, PMID:17431395, PMID:17431450, PMID:17453626, PMID:17503405, PMID:17554795, PMID:17577688, PMID:17698792, PMID:17968687, PMID:18022643, PMID:18074076, PMID:18276611, PMID:18295603, PMID:18318779, PMID:18460047, PMID:18606975, PMID:18830126, PMID:18863976, PMID:18925456, PMID:18984591, PMID:19118530, PMID:19291509, PMID:19364362, PMID:19372189, PMID:19428025, PMID:19467548, PMID:19491989, PMID:19602727, PMID:19644733, PMID:19709674, PMID:19752327, PMID:19781421, PMID:19808383, PMID:19922332, PMID:20209591, PMID:20301373, PMID:20435197, PMID:20558946, PMID:20660862, PMID:20686303, PMID:20697105, PMID:20714957, PMID:20840742, PMID:20937937, PMID:21135536, PMID:21406045, PMID:21520333, PMID:21540676, PMID:21550574, PMID:21557933, PMID:21600538, PMID:21692911, PMID:21843040, PMID:21992998, PMID:22083004, PMID:22106346, PMID:22149423, PMID:22184092, PMID:22187309, PMID:22209138, PMID:22332999, PMID:22382560, PMID:22412233, PMID:22449240, PMID:22531659, PMID:22551192, PMID:22580845, PMID:22592564, PMID:22620962, PMID:22745357, PMID:22747647, PMID:22877808, PMID:22928869, PMID:22973891, PMID:22995991, PMID:23080516, PMID:23126592, PMID:23279339, PMID:23317988, PMID:23346293, PMID:23387326, PMID:23414091, PMID:23438977, PMID:23523753, PMID:23580146, PMID:23713495, PMID:23716704, PMID:23833285, PMID:23993291, PMID:24033266, PMID:24046394, PMID:24053266, PMID:24061768, PMID:24073013, PMID:24101130, PMID:24101373, PMID:24111657, PMID:24164154, PMID:24184229, PMID:24358189, PMID:24412190, PMID:24455802, PMID:24474780, PMID:24480837, PMID:24517438, PMID:24555660, PMID:24601850, PMID:24633258, PMID:24650283, PMID:24664531, PMID:24767411, PMID:24779883, PMID:24800914, PMID:24818650, PMID:24945718, PMID:24953234, PMID:24955979, PMID:25044787, PMID:25211232, PMID:25225131, PMID:25291558, PMID:25311081, PMID:25395306, PMID:25412400, PMID:25526974, PMID:25550818, PMID:25551524, PMID:25644864, PMID:25721874, PMID:25741868, PMID:25743335, PMID:25743445, PMID:25819286, PMID:25828388, PMID:25846356, PMID:25857202, PMID:25973863, PMID:25997029, PMID:26017327, PMID:26115788, PMID:26123279, PMID:26123280, PMID:26156087, PMID:26208957, PMID:26342004, PMID:26369527, PMID:26428663, PMID:26467025, PMID:26521788, PMID:26529114, PMID:26537620, PMID:26656838, PMID:26894299, PMID:26986100, PMID:27025994, PMID:27066555, PMID:27238058, PMID:27249223, PMID:27273296, PMID:27501389, PMID:27532257, PMID:27562180, PMID:27584576, PMID:27646980, PMID:27724962, PMID:27793437, PMID:27858761, PMID:27859927, PMID:27885756, PMID:28272196, PMID:28460244, PMID:28492532, PMID:28635949, PMID:28790153, PMID:28798025, PMID:28911993, PMID:29121657, PMID:29246775, PMID:29455155, PMID:29524093, PMID:29941560, PMID:30311386, PMID:30685801, PMID:31139689, PMID:31371117, PMID:32393063 NCBI chr18:15,532,963...15,542,180
Ensembl chr18:15,532,963...15,540,177
JBrowse link
X-linked reticulate pigmentary disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pola1 DNA polymerase alpha 1, catalytic subunit ISO ClinVar Annotator: match by term: Pigmentary disorder, reticulate, with systemic manifestations
ClinVar Annotator: match by term: Pigmentary disorder, reticulate, with systemic manifestations, X-linked
ClinVar
OMIM
PMID:25741868, PMID:27019227, PMID:28492532 NCBI chr  X:62,382,604...62,698,830
Ensembl chr  X:62,382,608...62,698,830
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    Nutritional and Metabolic Diseases 4728
      disease of metabolism 4728
        Proteostasis Deficiencies 317
          TDP-43 Proteinopathies + 266
          amyloidosis + 60
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.