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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:glomerulosclerosis
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Accession:DOID:0050851 term browser browse the term
Definition:A type of renal injury consisting of fibrosis of glomeruli
Synonyms:primary_id: RDO:9000005
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
glomerulosclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 treatment ISO RGD PMID:21718676 RGD:12879389 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,639
JBrowse link
G AGER advanced glycosylation end-product specific receptor treatment ISO associated with Diabetic Nephropathies RGD PMID:20554645, PMID:23046363 RGD:7243247, RGD:7244139 NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,116...24,228,756
JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO mRNA:decreased expression:kidney RGD PMID:12495295 RGD:6903859 NCBI chr13:88,934,873...88,980,317
Ensembl chr13:88,934,868...88,983,131
JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO associated with Kidney Failure, Chronic
mRNA:increased expression:kidney
RGD PMID:12495295, PMID:20042458, PMID:20631980 RGD:6903284, RGD:6903859, RGD:6903882 NCBI chr  X:95,267,709...95,272,237
Ensembl chr  X:95,269,300...95,270,388
JBrowse link
G APOE apolipoprotein E ISO protein:increased expression:renal glomerulus (rat) RGD PMID:21907828, PMID:22207560 RGD:6903199, RGD:6903285 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,259...51,377,794
JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO RGD PMID:20610530 RGD:7257557 NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,556,912...93,615,815
JBrowse link
G ESR2 estrogen receptor 2 susceptibility ISO protein:decreased expression:renal glomerulus (mouse) RGD PMID:12000739 RGD:7364801 NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,722,164...193,906,565
JBrowse link
G FBN1 fibrillin 1 ISO associated with Hypertension RGD PMID:16380460 RGD:7365080 NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649
JBrowse link
G HBEGF heparin binding EGF like growth factor induced ISO RGD PMID:16107576 RGD:1556472 NCBI chr 2:142,102,455...142,115,192
Ensembl chr 2:142,102,456...142,115,344
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO associated with Hypertension RGD PMID:19948880 RGD:7175503
G MMP1 matrix metallopeptidase 1 ISO associated with Hyperhomocysteinemia
protein:decreased expression:kidney (rat)
RGD PMID:20406136, PMID:21275176 RGD:7207203, RGD:7207363 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,454,000
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO associated with Hyperhomocysteinemia
associated with Obesity;mRNA:decreased expression:glomerulus
RGD PMID:9300240, PMID:20406136 RGD:7207203, RGD:8547929 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G PLA2G7 phospholipase A2 group VII ISO RGD PMID:16213192 RGD:7248790 NCBI chr 7:41,488,152...41,531,383
Ensembl chr 7:41,486,843...41,531,331
JBrowse link
G PLEKHA7 pleckstrin homology domain containing A7 ISO RGD PMID:25136115 RGD:11079199 NCBI chr 2:42,081,546...42,311,526
Ensembl chr 2:42,081,530...42,311,547
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma treatment ISO RGD PMID:11318962 RGD:8553043 NCBI chr13:68,301,566...68,433,951
Ensembl chr13:68,302,655...68,433,947
JBrowse link
G RGS2 regulator of G protein signaling 2 susceptibility ISO associated with Hypertension RGD PMID:26606876 RGD:13524570 NCBI chr10:936,836...940,083
Ensembl chr10:936,789...940,098
JBrowse link
G RNLS renalase, FAD dependent amine oxidase ISO RGD PMID:24022426 RGD:7327155 NCBI chr14:100,312,592...100,604,953
Ensembl chr14:100,319,225...100,604,945
JBrowse link
G SERPINE1 serpin family E member 1 treatment ISO mRNA, protein:increased expression:kidney (rat) RGD PMID:26999660, PMID:27129290 RGD:11073618, RGD:11073688 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,564
JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO RGD PMID:19918242 RGD:12879501 NCBI chr 6:168,535,398...168,561,170
Ensembl chr 6:168,534,655...168,690,095
JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:12675855 RGD:6903837 NCBI chr 8:131,077,786...131,085,334
Ensembl chr 8:131,077,786...131,085,340
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO associated with Hypertension RGD PMID:23389459 RGD:7245475 NCBI chr 6:72,195,420...72,231,146
Ensembl chr 6:72,195,435...72,231,149
JBrowse link
focal segmental glomerulosclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE2 angiotensin I converting enzyme 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16723697 NCBI chr  X:12,099,849...12,152,204
Ensembl chr  X:12,099,853...12,151,275
JBrowse link
G ACTA2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:20493835 NCBI chr14:100,868,145...100,886,732
Ensembl chr14:100,867,733...100,886,713
JBrowse link
G ACTN4 actinin alpha 4 susceptibility ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:10700177 RGD:1598731 NCBI chr 6:47,493,834...47,565,999
Ensembl chr 6:47,493,882...47,569,609
JBrowse link
G ACTR3 actin related protein 3 ISO protein:increased expression:renal glomerulus (rat)
DNA:missense mutation:cds:p.L111F (rat)
RGD PMID:18064521, PMID:27251563 RGD:11575049, RGD:2292230 NCBI chr15:20,104,808...20,171,721
Ensembl chr15:20,104,846...20,208,186
JBrowse link
G AGT angiotensinogen ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:19858406, PMID:21357516 RGD:5129175 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,672,428
JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO protein:increased expression:kidney cortex RGD PMID:21357516 RGD:5129175 NCBI chr13:88,934,873...88,980,317
Ensembl chr13:88,934,868...88,983,131
JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO protein:increased expression:kidney cortex RGD PMID:21357516 RGD:5129175 NCBI chr  X:95,267,709...95,272,237
Ensembl chr  X:95,269,300...95,270,388
JBrowse link
G ANGPT2 angiopoietin 2 ISO mRNA, protein:increased expression:glomerulus (rat) RGD PMID:16628643 RGD:2314213 NCBI chr15:37,544,177...37,600,925
Ensembl chr15:37,544,707...37,599,041
JBrowse link
G ANLN anillin actin binding protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:37,647,952...37,710,939
Ensembl chr18:37,647,961...37,709,263
JBrowse link
G BDKRB1 bradykinin receptor B1 ISO RGD PMID:21412216 RGD:7175321 NCBI chr 7:117,491,350...117,492,410
Ensembl chr 7:117,491,350...117,492,410
JBrowse link
G CASP9 caspase 9 treatment ISO RGD PMID:28245472 RGD:13782344 NCBI chr 6:74,707,597...74,730,033
Ensembl chr 6:74,706,515...74,730,092
JBrowse link
G CAT catalase ISO RGD PMID:22443450 RGD:7205647 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
JBrowse link
G CCL11 chemokine (C-C motif) ligand 11 treatment ISO RGD PMID:22427838 RGD:7247740 NCBI chr12:40,779,906...40,782,862
Ensembl chr12:40,779,173...40,782,893
JBrowse link
G CCL3L1 chemokine (C-C motif) ligand 3-like 1 ISO RGD PMID:17684420 RGD:7241818 NCBI chr12:39,491,999...39,493,345
Ensembl chr12:39,491,885...39,493,370
JBrowse link
G CCN2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17121042 NCBI chr 1:31,674,398...31,677,697
Ensembl chr 1:31,673,798...31,677,696
JBrowse link
G CD2AP CD2 associated protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
FSGS3, OMIM:607832, DNA:splice-site mutaton
CTD
ClinVar
RGD
PMID:12764198 RGD:1600628 NCBI chr 7:42,218,016...42,332,523
Ensembl chr 7:42,217,588...42,332,518
JBrowse link
G CFB complement factor B ISO RGD PMID:17522263 RGD:7242704 NCBI chr 7:24,034,077...24,040,523 JBrowse link
G COL4A1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:16191423, PMID:18682491 NCBI chr11:76,858,332...76,997,409 JBrowse link
G CRB2 crumbs cell polarity complex component 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:264,277,549...264,301,731
Ensembl chr 1:264,276,572...264,301,725
JBrowse link
G EDN1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16191423 NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
JBrowse link
G FN1 fibronectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16191423 NCBI chr15:117,658,158...117,737,145
Ensembl chr15:117,658,099...117,731,014
JBrowse link
G GNAQ G protein subunit alpha q ISO CTD Direct Evidence: marker/mechanism CTD PMID:16267159 NCBI chr 1:230,607,469...230,906,988
Ensembl chr 1:230,605,229...230,907,675
JBrowse link
G HAVCR1 hepatitis A virus cellular receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19225054 NCBI chr16:66,162,318...66,208,868 JBrowse link
G HSPB1 heat shock protein family B (small) member 1 ISO protein:increased expression:glomerulus, podocyte: RGD PMID:21931298 RGD:10402764 NCBI chr 3:10,038,074...10,039,441
Ensembl chr 3:10,037,936...10,039,915
JBrowse link
G INF2 inverted formin 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
CTD
ClinVar
PMID:20023659, PMID:25741868, PMID:26467025
G ITGB3 integrin subunit beta 3 ISO RGD PMID:21804539 RGD:6907385 NCBI chr12:16,694,466...16,752,228
Ensembl chr12:16,693,505...16,752,292
JBrowse link
G LAMB2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar NCBI chr13:31,738,282...31,750,623
Ensembl chr13:31,738,284...31,771,220
JBrowse link
G LIPC lipase C, hepatic type ISO protein:reduced expression:serum (rat) RGD PMID:14531811 RGD:2308781 NCBI chr 1:113,433,684...113,604,139
Ensembl chr 1:113,433,679...113,604,306
JBrowse link
G LOC100153087 nuclear RNA export factor 2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:23686279 NCBI chr  X:83,338,757...83,361,973 JBrowse link
G LOC110258578 interleukin-1 beta-like ISO RGD PMID:21412216 RGD:7175321
G LPL lipoprotein lipase ISO RGD PMID:14531811 RGD:2308781 NCBI chr14:4,104,761...4,134,964
Ensembl chr14:4,104,772...4,135,814
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO mRNA, protein:increased expression, increased activity:kidney RGD PMID:19357873 RGD:2325738 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,594...30,086,982
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO mRNA, protein:increased expression, increased activity:kidney RGD PMID:19357873 RGD:2325738 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18818194 NCBI chr 3:111,823,075...111,833,929
Ensembl chr 3:111,821,690...111,835,663
JBrowse link
G MYH10 myosin heavy chain 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9678433 NCBI chr12:53,647,579...53,781,552 JBrowse link
G MYH9 myosin heavy chain 9 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:18794856, PMID:21402784 RGD:6903254 NCBI chr 5:11,365,603...11,456,475 JBrowse link
G MYO1E myosin IE ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:112,677,545...112,902,005
Ensembl chr 1:112,677,810...112,901,999
JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16191423 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,944...44,327,111
JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
CTD
ClinVar
PMID:15942677, PMID:18614772, PMID:19812541, PMID:20172850, PMID:20507940, PMID:21415313, PMID:24742477, PMID:24902943, PMID:25741868, PMID:27019444, PMID:28492532, PMID:29474669 NCBI chr 6:45,248,325...45,271,892
Ensembl chr 6:45,248,317...45,271,550
JBrowse link
G NPHS2 NPHS2 stomatin family member, podocin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15942677 NCBI chr 9:121,217,734...121,236,214
Ensembl chr 9:121,216,496...121,236,178
JBrowse link
G NUP93 nucleoporin 93 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:32581362 NCBI chr 6:18,711,869...18,827,705
Ensembl chr 6:18,711,910...18,827,894
JBrowse link
G PAX2 paired box 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:111,822,334...111,914,950
Ensembl chr14:111,834,168...111,914,304
JBrowse link
G PCNA proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:17121042 NCBI chr17:14,137,746...14,142,584
Ensembl chr17:14,125,814...14,185,276
JBrowse link
G PIAS1 protein inhibitor of activated STAT 1 ISO RGD PMID:19350281 RGD:8693412 NCBI chr 1:165,957,114...166,087,242
Ensembl chr 1:165,853,126...166,087,240
JBrowse link
G PPP3CA protein phosphatase 3 catalytic subunit alpha ISO RGD PMID:26436650 RGD:13515117 NCBI chr 8:119,429,181...119,754,615
Ensembl chr 8:119,428,743...119,754,650
JBrowse link
G PPP3CB protein phosphatase 3 catalytic subunit beta ISO RGD PMID:26436650 RGD:13515117 NCBI chr14:76,239,497...76,305,345
Ensembl chr14:76,248,849...76,305,328
JBrowse link
G RAP1GAP RAP1 GTPase activating protein ISO mRNA:increased expression:renal glomerulus (human) RGD PMID:24642466 RGD:9835343 NCBI chr 6:79,664,486...79,735,361
Ensembl chr 6:79,664,485...79,735,363
JBrowse link
G SERPINE1 serpin family E member 1 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:18682491, PMID:22303720 RGD:13208548 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,564
JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:24744439 RGD:12859042 NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,718...2,555,484
JBrowse link
G SPP1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9294829 NCBI chr 8:131,077,786...131,085,334
Ensembl chr 8:131,077,786...131,085,340
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16191423, PMID:18682491, PMID:20493835 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,169...49,349,048
JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:serum RGD PMID:21221075 RGD:7245511 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO protein:increased expression:serum RGD PMID:21221075 RGD:7245511 NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,073...64,331,909
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO protein:increased expression:serum RGD PMID:21221075 RGD:7245511 NCBI chr 6:72,195,420...72,231,146
Ensembl chr 6:72,195,435...72,231,149
JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 treatment ISO DNA:nonsense mutation, missense mutations: :multiple
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
DNA:missense mutation:exon:p.P112Q (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:exon:p.P15S (human)
RGD
ClinVar
CTD
PMID:15879175, PMID:15924139, PMID:21839714, PMID:22980509, PMID:23385000, PMID:26892346, PMID:32581362 RGD:7247440, RGD:7247444, RGD:7247445, RGD:7247580, RGD:7247581 NCBI chr 9:32,332,768...32,439,184
Ensembl chr 9:32,332,769...32,439,184
JBrowse link
G VLDLR very low density lipoprotein receptor ISO protein:decreased expression:adipose tissue, skeletal muscle (rat) RGD PMID:11786096 RGD:2324671 NCBI chr 1:219,178,501...219,210,332
Ensembl chr 1:219,173,504...219,210,343
JBrowse link
G VWF von Willebrand factor ISO RGD PMID:22295953 RGD:7207031 NCBI chr 5:64,516,627...64,655,938
Ensembl chr 5:64,519,186...65,002,098
JBrowse link
G WT1 WT1 transcription factor ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25145932, PMID:25349199, PMID:25383892, PMID:25741868 NCBI chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,794...28,456,003
JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17152860 NCBI chr 6:96,008,307...96,057,131
Ensembl chr 6:96,008,455...96,062,951
JBrowse link
focal segmental glomerulosclerosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 treatment ISO RGD PMID:8505110 RGD:12880006 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,639
JBrowse link
G ACTN4 actinin alpha 4 ISO OMIM NCBI chr 6:47,493,834...47,565,999
Ensembl chr 6:47,493,882...47,569,609
JBrowse link
G ARHGAP24 Rho GTPase activating protein 24 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 ClinVar NCBI chr 8:132,761,967...133,506,065
Ensembl chr 8:132,761,689...133,242,298
JBrowse link
focal segmental glomerulosclerosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPC6 transient receptor potential cation channel subfamily C member 6 ISO OMIM NCBI chr 9:32,332,768...32,439,184
Ensembl chr 9:32,332,769...32,439,184
JBrowse link
Focal Segmental Glomerulosclerosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD2AP CD2 associated protein ISO OMIM NCBI chr 7:42,218,016...42,332,523
Ensembl chr 7:42,217,588...42,332,518
JBrowse link
focal segmental glomerulosclerosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G INF2 inverted formin 2 ISO OMIM
focal segmental glomerulosclerosis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO1E myosin IE ISO OMIM NCBI chr 1:112,677,545...112,902,005
Ensembl chr 1:112,677,810...112,901,999
JBrowse link
focal segmental glomerulosclerosis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PAX2 paired box 2 ISO OMIM NCBI chr14:111,822,334...111,914,950
Ensembl chr14:111,834,168...111,914,304
JBrowse link
focal segmental glomerulosclerosis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANLN anillin actin binding protein ISO OMIM NCBI chr18:37,647,952...37,710,939
Ensembl chr18:37,647,961...37,709,263
JBrowse link
focal segmental glomerulosclerosis 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRB2 crumbs cell polarity complex component 2 ISO OMIM NCBI chr 1:264,277,549...264,301,731
Ensembl chr 1:264,276,572...264,301,725
JBrowse link
nephrotic syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANXA5 annexin A5 ISO protein:increased expression:urine RGD PMID:17999093 RGD:7242031 NCBI chr 8:102,387,833...102,420,868
Ensembl chr 8:102,388,103...102,425,750
JBrowse link
G AVIL advillin ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:29058690 NCBI chr 5:23,087,946...23,110,602
Ensembl chr 5:23,087,956...23,132,465
JBrowse link
G AXDND1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome, idiopathic, steroid-resistant
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to
ClinVar PMID:8589695, PMID:10742096, PMID:11805166, PMID:12464671, PMID:12707396, PMID:14675423, PMID:14978175, PMID:15015071, PMID:15253708, PMID:15327385, PMID:15496146, PMID:15769810, PMID:15817495, PMID:17371932, PMID:17899208, PMID:18216321, PMID:18443213, PMID:18823551, PMID:19145239, PMID:19406966, PMID:20507940, PMID:20798252, PMID:20947785, PMID:21171529, PMID:21355056, PMID:21415313, PMID:22565185, PMID:22578956, PMID:23242530, PMID:23515051, PMID:23595123, PMID:23645318, PMID:24033266, PMID:24227627, PMID:24509478, PMID:24742477, PMID:24856380, PMID:25349199, PMID:25525159, PMID:25741868, PMID:26413278, PMID:26420286, PMID:26467025, PMID:26594346, PMID:26668027, PMID:28492532, PMID:28658201, PMID:29660491, PMID:30260545, PMID:32581362 NCBI chr 9:121,120,031...121,209,686
Ensembl chr 9:121,120,214...121,223,059
JBrowse link
G COL4A3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 NCBI chr15:128,611,640...128,763,331
Ensembl chr15:128,611,866...128,763,122
JBrowse link
G COL4A4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 NCBI chr15:128,472,228...128,612,302
Ensembl chr15:128,472,228...128,612,379
JBrowse link
G COL4A5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:32581362 NCBI chr  X:88,958,837...89,183,306
Ensembl chr  X:88,958,825...89,183,374
JBrowse link
G CRB2 crumbs cell polarity complex component 2 ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25557779, PMID:32581362 NCBI chr 1:264,277,549...264,301,731
Ensembl chr 1:264,276,572...264,301,725
JBrowse link
G NPHS2 NPHS2 stomatin family member, podocin ISO OMIM NCBI chr 9:121,217,734...121,236,214
Ensembl chr 9:121,216,496...121,236,178
JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 ISO mRNA:alternative form:blood, mononuclear cell RGD PMID:20419394 RGD:7174729 NCBI chr 2:144,822,937...144,956,451
Ensembl chr 2:144,822,937...144,956,095
JBrowse link
G NUP205 nucleoporin 205 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr18:13,674,301...13,777,773
Ensembl chr18:13,674,301...13,811,976
JBrowse link
G NUP93 nucleoporin 93 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr 6:18,711,869...18,827,705
Ensembl chr 6:18,711,910...18,827,894
JBrowse link
G PLA2G7 phospholipase A2 group VII disease_progression ISO RGD PMID:9853251 RGD:7248793 NCBI chr 7:41,488,152...41,531,383
Ensembl chr 7:41,486,843...41,531,331
JBrowse link
G PLCE1 phospholipase C epsilon 1 ISO DNA:mutations: : RGD PMID:20591883 RGD:7257521 NCBI chr14:105,422,628...105,764,736
Ensembl chr14:105,458,916...105,764,731
JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 ISO DNA:missense mutations, SNPs:exon, intron:multiple RGD PMID:21511817 RGD:7247446 NCBI chr 9:32,332,768...32,439,184
Ensembl chr 9:32,332,769...32,439,184
JBrowse link
G TSFM Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:29058690 NCBI chr 5:23,073,087...23,087,029
Ensembl chr 5:23,073,007...23,096,914
JBrowse link
G WT1 WT1 transcription factor ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:1302008, PMID:1327525, PMID:1338906, PMID:1655284, PMID:6307071, PMID:7795587, PMID:8295405, PMID:9090524, PMID:9529364, PMID:9607189, PMID:10470095, PMID:10505700, PMID:11182928, PMID:12970737, PMID:15150775, PMID:15509792, PMID:17496156, PMID:17541636, PMID:17853480, PMID:23497137, PMID:23715653, PMID:23935527, PMID:25501161, PMID:25818337, PMID:26069768, PMID:26467025, PMID:27013732, PMID:27899157, PMID:28204945, PMID:28492532, PMID:32581362 NCBI chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,794...28,456,003
JBrowse link
G XPO5 exportin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr 7:38,530,704...38,569,558
Ensembl chr 7:38,530,725...38,569,570
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12615
    Pathological Conditions, Signs and Symptoms 7525
      Pathologic Processes 5562
        Fibrosis 1298
          renal fibrosis 120
            glomerulosclerosis 85
              focal segmental glomerulosclerosis + 73
Path 2
Term Annotations click to browse term
  disease 12615
    disease of anatomical entity 12148
      Urogenital Diseases 3638
        urinary system disease 1642
          kidney disease 1443
            nephritis 335
              glomerulonephritis 293
                glomerulosclerosis 85
                  focal segmental glomerulosclerosis + 73
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.