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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:renal fibrosis
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Accession:DOID:0050855 term browser browse the term
Definition:A pathological condition where fibrous connective tissue invades the kidney, usually as a consequence of inflammation or other injury. It is characterized by glomerulosclerosis and tubulointerstitial fibrosis - the final common manifestation of a wide variety of chronic kidney diseases.
Synonyms:exact_synonym: kidney fibrosis
 primary_id: RDO:9000014
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
renal fibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme treatment ISO
IMP
protein:decreased expression:renal medulla, renal cortex, brush border epithelial cell (human) RGD PMID:10504496 PMID:10644663 RGD:8158033, RGD:12879403 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Adam17 ADAM metallopeptidase domain 17 ISO RGD PMID:22015440 RGD:13703100 NCBI chr 6:40,872,936...40,920,700
Ensembl chr 6:40,872,856...40,920,639
JBrowse link
G Ager advanced glycosylation end product-specific receptor treatment ISO
IDA
associated with Diabetes Mellitus, Experimental
mRNA:decreased expression:lung (kidney)
RGD PMID:22698914 PMID:22669512 PMID:21704028 RGD:7243851, RGD:7245533, RGD:7244186 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
JBrowse link
G Arrb2 arrestin, beta 2 ISO associated with ureteral obstruction;mRNA, protein:increased expression:kidney RGD PMID:28274926 RGD:13506828 NCBI chr10:55,146,887...55,154,854
Ensembl chr10:55,146,818...55,154,850
JBrowse link
G Bdkrb1 bradykinin receptor B1 ISO RGD PMID:18809736 RGD:7241554 NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747
JBrowse link
G Bmp6 bone morphogenetic protein 6 severity ISO associated with Ureteral Obstruction RGD PMID:21356359 RGD:7242415 NCBI chr17:26,318,121...26,469,034
Ensembl chr17:26,318,569...26,470,365
JBrowse link
G Ccl3 C-C motif chemokine ligand 3 IEP RGD PMID:21370451 RGD:7175323 NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
JBrowse link
G Clu clusterin IMP associated with Ureteral Obstruction RGD PMID:22052058 RGD:9068421 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO protein:increased expression:kidney RGD PMID:23224993 RGD:7257551 NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
JBrowse link
G Cpb2 carboxypeptidase B2 ISO associated with Ureteral Obstruction; RGD PMID:17988229 RGD:7243118 NCBI chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556
JBrowse link
G Crp C-reactive protein onset ISO associated with ureteral obstruction RGD PMID:21383672 PMID:21383672 PMID:21383672 RGD:6907431, RGD:6907431, RGD:6907431 NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Cybb cytochrome b-245 beta chain treatment IEP
ISO
associated with liver transplant;protein:increased expression:kidney: RGD PMID:22568654 PMID:22568654 RGD:11040697, RGD:11040697 NCBI chr  X:13,360,583...13,392,517
Ensembl chr  X:13,359,430...13,392,586
JBrowse link
G Cygb cytoglobin treatment IMP RGD PMID:20719976 RGD:9685174 NCBI chr10:101,877,675...101,887,442
Ensembl chr10:101,877,676...101,887,442
JBrowse link
G Cyp2j4 cytochrome P450, family 2, subfamily j, polypeptide 4 ISO RGD PMID:22260463 RGD:7243130 NCBI chr 5:111,179,981...111,207,490
Ensembl chr 5:111,178,703...111,244,794
JBrowse link
G Ece1 endothelin converting enzyme 1 IEP associated with Ureteral obstruction;mRNA:increased expression:kidney RGD PMID:11078391 RGD:7244179 NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
JBrowse link
G Ednra endothelin receptor type A IEP associated with Ureteral obstruction;mRNA:increased expression:kidney RGD PMID:11078391 RGD:7244179 NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
JBrowse link
G Eng endoglin treatment IEP
ISO
IDA
associated with Ureteral Obstruction; mRNA, protein:increased expression:kidney (rat)
protein:altered expression:kidney (mouse)
RGD PMID:16440600 PMID:15033991 PMID:15475654 RGD:7248781, RGD:7248783, RGD:7248782 NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO RGD PMID:22299048 RGD:11041600 NCBI chr 6:7,790,236...7,871,246
Ensembl chr 6:7,790,647...7,871,228
JBrowse link
G Fcar Fc alpha receptor ISO RGD PMID:18250479 RGD:7242172 NCBI chr 1:69,626,458...69,660,558 JBrowse link
G Fn1 fibronectin 1 ISO protein:increased expression:kidney: RGD PMID:22052058 RGD:9068421 NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
JBrowse link
G Gfer growth factor, augmenter of liver regeneration treatment ISO associated with ureteral obstruction RGD PMID:24844766 RGD:13506791 NCBI chr10:13,718,489...13,721,782
Ensembl chr10:13,718,489...13,720,869
JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO mRNA:increased expression:kidney cortex: RGD PMID:22342673 RGD:7245951 NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
JBrowse link
G Ifng interferon gamma treatment
no_association
IDA RGD PMID:10594787 PMID:8289579 RGD:10755746, RGD:10755751 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Kras KRAS proto-oncogene, GTPase treatment IMP associated with Ureteral Obstruction RGD PMID:22074740 RGD:11060152 NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Lcn2 lipocalin 2 ISO mRNA:increased expression:kidney cortex: RGD PMID:22342673 RGD:7245951 NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
JBrowse link
G Lepr leptin receptor disease_progression IMP RGD PMID:27465994 RGD:12911217 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
JBrowse link
G Leprem2Mcwi leptin receptor; zinc finger nuclease induced mutant 2, Medical College of Wisconsin disease_progression IMP RGD PMID:27465994 RGD:12911217
G Lrp1 LDL receptor related protein 1 ISO RGD PMID:18037995 RGD:7243102 NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910
JBrowse link
G Mapk1 mitogen activated protein kinase 1 IEP RGD PMID:23698112 RGD:7244171 NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO human gene in mouse model; associated with Diabetes Mellitus, Experimental RGD PMID:14674437 RGD:7207134 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP RGD PMID:23006043 RGD:13204847 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO associated with Ureteral Obstruction; protein:increased expression:kidney (mouse) RGD PMID:19297557 RGD:7207450 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
JBrowse link
G Ncf2 neutrophil cytosolic factor 2 IMP RGD PMID:22326221 RGD:9587793 NCBI chr13:64,955,502...64,986,289
Ensembl chr13:64,955,503...64,986,277
JBrowse link
G Ncf2em1Mcwi neutrophil cytosolic factor 2; zinc finger nuclease induced mutant 1, Medical College of Wisconsin IMP RGD PMID:22326221 RGD:9587793
G Nphs1 NPHS1 adhesion molecule, nephrin treatment ISO associated with primary hyperaldosteronism RGD PMID:24108235 RGD:38599161 NCBI chr 1:85,720,812...85,749,079
Ensembl chr 1:85,720,812...85,749,078
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 treatment ISO associated with Ureteral Obstruction RGD PMID:23056222 RGD:11035221 NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
JBrowse link
G Plau plasminogen activator, urokinase ISO associated with Ureteral Obstruction RGD PMID:19690163 PMID:15882265 RGD:7241138, RGD:7241268 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP associated with Ureteral Obstruction; mRNA:decreased expression:kidney (rat) RGD PMID:21784897 RGD:7242027 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
JBrowse link
G Resp18 regulated endocrine-specific protein 18 IMP RGD PMID:29570433 RGD:14348960 NCBI chr 9:76,765,179...76,771,824
Ensembl chr 9:76,764,590...76,778,722
JBrowse link
G Resp18em2Mcwi regulated endocrine-specific protein 18; zinc finger nuclease induced mutant 2, Medical College of Wisconsin IMP RGD PMID:29570433 RGD:14348960
G Serpine1 serpin family E member 1 treatment IDA
IEP
associated with Diabetes Mellitus, Experimental
protein:increased expression:kidney (rat)
RGD PMID:27018336 PMID:26869361 RGD:11073616, RGD:11073686 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Sod2 superoxide dismutase 2 ISO RGD PMID:19458120 RGD:7175536 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Stat6 signal transducer and activator of transcription 6 IMP associated with Renal Insufficiency, Chronic RGD PMID:15647835 RGD:7244136 NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495
JBrowse link
G Tlr2 toll-like receptor 2 IMP associated with Ureteral Obstruction RGD PMID:22777483 RGD:7207895 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Tlr4 toll-like receptor 4 IMP associated with Ureteral Obstruction RGD PMID:22777483 RGD:7207895 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO associated with Ureteral Obstruction RGD PMID:10564241 RGD:7245536 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
G Xdh xanthine dehydrogenase treatment IMP associated with Ureteral Obstruction RGD PMID:22350467 RGD:7247643 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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:30,293,597...30,340,961
Ensembl chr  X:30,293,589...30,340,977
JBrowse link
G Acta2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:20493835 NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
JBrowse link
G Actn4 actinin alpha 4 susceptibility ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:25741868 PMID:28492532 PMID:10700177 RGD:1598731 NCBI chr 1:84,182,783...84,251,867
Ensembl chr 1:84,182,788...84,251,847
JBrowse link
G Actr3 actin related protein 3 IAGP
IEP
DNA:missense mutation:cds:p.L111F (rat)
protein:increased expression:renal glomerulus (rat)
RGD PMID:18064521 PMID:27251563 RGD:2292230, RGD:11575049 NCBI chr13:36,800,739...36,843,837
Ensembl chr13:36,800,093...36,844,124
JBrowse link
G Agt angiotensinogen IEP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:19858406 PMID:21357516 RGD:5129175 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Agtr1a angiotensin II receptor, type 1a IEP protein:increased expression:kidney cortex RGD PMID:21357516 RGD:5129175 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
JBrowse link
G Agtr2 angiotensin II receptor, type 2 IEP protein:increased expression:kidney cortex RGD PMID:21357516 RGD:5129175 NCBI chr  X:112,119,673...112,124,060
Ensembl chr  X:112,120,228...112,124,057
JBrowse link
G Angpt2 angiopoietin 2 IEP mRNA, protein:increased expression:glomerulus (rat) RGD PMID:16628643 RGD:2314213 NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
JBrowse link
G Anln anillin, actin binding protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:20,858,227...20,921,602
Ensembl chr 8:20,858,228...20,921,538
JBrowse link
G Bdkrb1 bradykinin receptor B1 ISO RGD PMID:21412216 RGD:7175321 NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747
JBrowse link
G Casp9 caspase 9 treatment IEP RGD PMID:28245472 RGD:13782344 NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
JBrowse link
G Cat catalase ISO RGD PMID:22443450 RGD:7205647 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Ccl11 C-C motif chemokine ligand 11 treatment ISO RGD PMID:22427838 RGD:7247740 NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
JBrowse link
G Ccl3 C-C motif chemokine ligand 3 ISO RGD PMID:17684420 RGD:7241818 NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17121042 NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
JBrowse link
G Cd2ap CD2-associated protein ISO FSGS3, OMIM:607832, DNA:splice-site mutaton
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
CTD
ClinVar
RGD
PMID:12764198 RGD:1600628 NCBI chr 9:18,086,744...18,182,744
Ensembl chr 9:18,086,984...18,182,199
JBrowse link
G Cfb complement factor B ISO RGD PMID:17522263 RGD:7242704 NCBI chr20:3,970,643...3,976,510 JBrowse link
G Cmas cytidine monophosphate N-acetylneuraminic acid synthetase ISS MouseDO NCBI chr 4:175,718,808...175,737,128
Ensembl chr 4:175,718,808...175,737,125
JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:16191423 PMID:18682491 NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:9195222 PMID:10752524 PMID:14514738 PMID:24854265 PMID:26809805 More... NCBI chr  X:105,118,762...105,322,699
Ensembl chr  X:105,118,820...105,322,692
JBrowse link
G Coq8b coenzyme Q8B ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar NCBI chr 1:82,525,578...82,549,182
Ensembl chr 1:82,526,568...82,549,180
JBrowse link
G Crb2 crumbs cell polarity complex component 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:21,542,138...21,564,876
Ensembl chr 3:21,542,221...21,563,294
JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16191423 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
JBrowse link
G Fn1 fibronectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16191423 NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
JBrowse link
G Gnaq G protein subunit alpha q ISO CTD Direct Evidence: marker/mechanism CTD PMID:16267159 NCBI chr 1:213,425,631...213,671,947
Ensembl chr 1:213,424,465...213,667,672
JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19225054 NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
JBrowse link
G Hr HR, lysine demethylase and nuclear receptor corepressor IMP RGD PMID:21325752 RGD:150520024 NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313
JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO protein:increased expression:glomerulus, podocyte: RGD PMID:21931298 RGD:10402764 NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743
JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:21412216 RGD:7175321 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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 PMID:28492532 NCBI chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941
JBrowse link
G Itgb3 integrin subunit beta 3 ISO RGD PMID:21804539 RGD:6907385 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25741868 NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549
JBrowse link
G Lipc lipase C, hepatic type IAGP protein:reduced expression:serum (rat) RGD PMID:14531811 RGD:2308781 NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
JBrowse link
G Lpl lipoprotein lipase IEP RGD PMID:14531811 RGD:2308781 NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
JBrowse link
G Mir193a microRNA 193a ISS OMIM:607832 | OMIM:612551 MouseDO NCBI chr10:64,672,343...64,672,454
Ensembl chr10:64,672,343...64,672,454
JBrowse link
G Mmp2 matrix metallopeptidase 2 IEP mRNA, protein:increased expression, increased activity:kidney RGD PMID:19357873 RGD:2325738 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP mRNA, protein:increased expression, increased activity:kidney RGD PMID:19357873 RGD:2325738 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18818194 NCBI chr 6:25,221,668...25,236,241
Ensembl chr 6:25,222,896...25,236,244
JBrowse link
G Myh10 myosin heavy chain 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9678433 NCBI chr10:53,393,901...53,525,174
Ensembl chr10:53,394,389...53,525,165
JBrowse link
G Myh9 myosin, heavy chain 9 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:18794856 PMID:21402784 RGD:6903254 NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
JBrowse link
G Myo1e myosin IE ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:70,887,934...71,080,180
Ensembl chr 8:70,887,870...71,080,169
JBrowse link
G Myo9a myosin IXA ISS MouseDO NCBI chr 8:60,149,234...60,348,726
Ensembl chr 8:60,149,234...60,350,514
JBrowse link
G Noc3l NOC3-like DNA replication regulator ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25741868 NCBI chr 1:236,556,037...236,585,372
Ensembl chr 1:236,556,789...236,585,318
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16191423 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin disease_progression ISO mRNA:increased expression:urine (human)
protein:decreased expression:kidney,renal glomerulus (human)
RGD PMID:21414970 PMID:30900988 RGD:38549367, RGD:15023481 NCBI chr 1:85,720,812...85,749,079
Ensembl chr 1:85,720,812...85,749,078
JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15942677 NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313
JBrowse link
G Nup93 nucleoporin 93 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:32581362 NCBI chr19:10,684,214...10,788,009
Ensembl chr19:10,682,075...10,788,026
JBrowse link
G Nxf7 nuclear RNA export factor 7 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:23686279 NCBI chr  X:98,535,374...98,552,562
Ensembl chr  X:98,535,375...98,552,526
JBrowse link
G Pax2 paired box 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321
JBrowse link
G Pcna proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:17121042 NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
JBrowse link
G Pias1 protein inhibitor of activated STAT, 1 IEP RGD PMID:19350281 RGD:8693412 NCBI chr 8:63,338,150...63,451,670
Ensembl chr 8:63,338,150...63,438,905
JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25741868 NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438
JBrowse link
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO RGD PMID:26436650 RGD:13515117 NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974
JBrowse link
G Ppp3cb protein phosphatase 3 catalytic subunit beta ISO RGD PMID:26436650 RGD:13515117 NCBI chr15:3,759,950...3,804,976
Ensembl chr15:3,760,030...3,804,981
JBrowse link
G Rap1gap Rap1 GTPase-activating protein ISO mRNA:increased expression:renal glomerulus (human) RGD PMID:24642466 RGD:9835343 NCBI chr 5:149,873,987...149,939,254
Ensembl chr 5:149,892,019...149,939,253
JBrowse link
G Serpine1 serpin family E member 1 treatment ISO
IEP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:18682491 PMID:22303720 RGD:13208548 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:24744439 RGD:12859042 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
JBrowse link
G Slc17a5 solute carrier family 17 member 5 ISO ClinVar Annotator: match by term: Glomerulosclerosis, focal ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:79,394,416...79,429,387 JBrowse link
G Spp1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9294829 NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16191423 PMID:18682491 PMID:20493835 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Tmem63c transmembrane protein 63c ISO protein:decreased expression:kidney,renal glomerulus (human) RGD PMID:30900988 RGD:15023481 NCBI chr 6:106,667,389...106,738,778
Ensembl chr 6:106,672,934...106,736,990
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum RGD PMID:21221075 RGD:7245511 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO protein:increased expression:serum RGD PMID:21221075 RGD:7245511 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO protein:increased expression:serum RGD PMID:21221075 RGD:7245511 NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 treatment IDA
ISO
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.P112Q (human)
DNA:nonsense mutation, missense mutations: :multiple
DNA:SNP:exon:p.P15S (human)
ClinVar
CTD
RGD
PMID:26892346 PMID:32581362 PMID:23385000 PMID:15879175 PMID:15924139 More... RGD:7247440, RGD:7247581, RGD:7247580, RGD:7247445, RGD:7247444 NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
JBrowse link
G Vldlr very low density lipoprotein receptor IEP protein:decreased expression:adipose tissue, skeletal muscle (rat) RGD PMID:11786096 RGD:2324671 NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920
JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:22295953 RGD:7207031 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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 PMID:28492532 More... NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17152860 NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110
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 treatment IMP RGD PMID:8505110 RGD:12880006 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Actn4 actinin alpha 4 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 OMIM
ClinVar
PMID:10700177 PMID:16251236 PMID:22351778 PMID:25741868 PMID:26467025 More... NCBI chr 1:84,182,783...84,251,867
Ensembl chr 1:84,182,788...84,251,847
JBrowse link
G Arhgap24 Rho GTPase activating protein 24 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 ClinVar NCBI chr14:6,800,631...7,184,001
Ensembl chr14:6,800,631...7,183,823
JBrowse link
G Nup107 nucleoporin 107 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 ClinVar NCBI chr 7:53,353,740...53,398,345
Ensembl chr 7:53,353,743...53,398,370
JBrowse link
G Slc17a5 solute carrier family 17 member 5 ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:79,394,416...79,429,387 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 ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 2
ClinVar Annotator: match by OMIM:603965
OMIM
ClinVar
PMID:2298509 PMID:10200986 PMID:15879175 PMID:15924139 PMID:19129465 More... NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
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 ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 3, susceptibility to OMIM
ClinVar
PMID:10514378 PMID:17713465 PMID:22971997 PMID:24033266 PMID:25741868 More... NCBI chr 9:18,086,744...18,182,744
Ensembl chr 9:18,086,984...18,182,199
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 ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5
ClinVar Annotator: match by OMIM:613237
OMIM
ClinVar
PMID:6054293 PMID:9536098 PMID:17576681 PMID:20023659 PMID:20803156 More... NCBI chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941
JBrowse link
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 ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6
ClinVar Annotator: match by OMIM:614131
OMIM
ClinVar
PMID:21756023 PMID:25741868 PMID:28492532 PMID:33532864 NCBI chr 8:70,887,934...71,080,180
Ensembl chr 8:70,887,870...71,080,169
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 ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 7 ClinVar
OMIM
PMID:3377002 PMID:8589702 PMID:9106533 PMID:11093271 PMID:11241473 More... NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321
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 ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 8 ClinVar
OMIM
PMID:24676636 PMID:25741868 PMID:28166811 PMID:28492532 NCBI chr 8:20,858,227...20,921,602
Ensembl chr 8:20,858,228...20,921,538
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 ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 9 ClinVar
OMIM
PMID:25557779 PMID:25741868 PMID:27004616 PMID:28492532 PMID:32581362 More... NCBI chr 3:21,542,138...21,564,876
Ensembl chr 3:21,542,221...21,563,294
JBrowse link
Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trim8 tripartite motif-containing 8 ISO ClinVar Annotator: match by term: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME OMIM
ClinVar
PMID:25741868 PMID:30244534 PMID:32193649 PMID:32531461 PMID:33508234 NCBI chr 1:245,369,632...245,384,513
Ensembl chr 1:245,369,632...245,384,513
JBrowse link
glomerulosclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme treatment IMP RGD PMID:21718676 RGD:12879389 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Ager advanced glycosylation end product-specific receptor treatment ISO associated with Diabetic Nephropathies RGD PMID:23046363 PMID:20554645 RGD:7243247, RGD:7244139 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
JBrowse link
G Agtr1a angiotensin II receptor, type 1a IEP mRNA:decreased expression:kidney RGD PMID:12495295 RGD:6903859 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
JBrowse link
G Agtr2 angiotensin II receptor, type 2 IMP
ISO
IEP
associated with Kidney Failure, Chronic
mRNA:increased expression:kidney
RGD PMID:20042458 PMID:20631980 PMID:12495295 RGD:6903284, RGD:6903882, RGD:6903859 NCBI chr  X:112,119,673...112,124,060
Ensembl chr  X:112,120,228...112,124,057
JBrowse link
G Apoe apolipoprotein E IEP
IDA
protein:increased expression:renal glomerulus (rat) RGD PMID:22207560 PMID:21907828 RGD:6903199, RGD:6903285 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Col3a1 collagen type III alpha 1 chain IEP RGD PMID:20610530 RGD:7257557 NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
JBrowse link
G Esr2 estrogen receptor 2 susceptibility ISO protein:decreased expression:renal glomerulus (mouse) RGD PMID:12000739 RGD:7364801 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
JBrowse link
G Fbn1 fibrillin 1 ISO associated with Hypertension RGD PMID:16380460 RGD:7365080 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
JBrowse link
G Hbegf heparin-binding EGF-like growth factor induced ISO RGD PMID:16107576 RGD:1556472 NCBI chr18:28,106,284...28,116,167
Ensembl chr18:28,105,760...28,116,441
JBrowse link
G Il1b interleukin 1 beta IDA associated with Hypertension RGD PMID:19948880 RGD:7175503 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Mmp1 matrix metallopeptidase 1 IDA
IEP
associated with Hyperhomocysteinemia
protein:decreased expression:kidney (rat)
RGD PMID:20406136 PMID:21275176 RGD:7207203, RGD:7207363 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Mmp9 matrix metallopeptidase 9 IDA
IEP
associated with Hyperhomocysteinemia
associated with Obesity;mRNA:decreased expression:glomerulus
RGD PMID:20406136 PMID:9300240 RGD:7207203, RGD:8547929 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin treatment ISO RGD PMID:22125642 RGD:40902998 NCBI chr 1:85,720,812...85,749,079
Ensembl chr 1:85,720,812...85,749,078
JBrowse link
G Pla2g7 phospholipase A2 group VII ISO RGD PMID:16213192 RGD:7248790 NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
JBrowse link
G Plekha7 pleckstrin homology domain containing A7 IMP RGD PMID:25136115 RGD:11079199 NCBI chr 1:170,364,524...170,547,843
Ensembl chr 1:170,365,135...170,547,775
JBrowse link
G Plekha7em4Mcwi pleckstrin homology domain containing, family A member 7; zinc finger nuclease induced mutant 4, Medical College of Wisconsin IMP RGD PMID:25136115 RGD:11079199
G Pparg peroxisome proliferator-activated receptor gamma treatment IDA RGD PMID:11318962 RGD:8553043 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
JBrowse link
G Rgs2 regulator of G-protein signaling 2 susceptibility IEP associated with Hypertension RGD PMID:26606876 RGD:13524570 NCBI chr13:55,799,749...55,802,354
Ensembl chr13:55,798,829...55,802,385
JBrowse link
G Rnls renalase, FAD-dependent amine oxidase IEP RGD PMID:24022426 RGD:7327155 NCBI chr 1:231,037,481...231,309,855
Ensembl chr 1:231,037,486...231,309,823
JBrowse link
G Serpine1 serpin family E member 1 treatment IDA
IEP
mRNA, protein:increased expression:kidney (rat) RGD PMID:26999660 PMID:27129290 RGD:11073618, RGD:11073688 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Shc1 SHC adaptor protein 1 ameliorates IMP RGD PMID:27270176 RGD:12792230 NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536
JBrowse link
G Shc1em4Mcwi SHC adaptor protein 1; ZFN induced mutant 4, Medical College of Wisconsin ameliorates IMP RGD PMID:27270176 RGD:12792230
G Slc2a1 solute carrier family 2 member 1 ISO RGD PMID:19918242 RGD:12879501 NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
JBrowse link
G Spp1 secreted phosphoprotein 1 IEP RGD PMID:12675855 RGD:6903837 NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
JBrowse link
G Synpo synaptopodin treatment ISO RGD PMID:22125642 RGD:40902998 NCBI chr18:54,048,299...54,106,388
Ensembl chr18:54,026,152...54,102,126
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO associated with Hypertension RGD PMID:23389459 RGD:7245475 NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369
JBrowse link
G Avil advillin ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:29058690 NCBI chr 7:62,825,459...62,844,103
Ensembl chr 7:62,826,025...62,844,071
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:14675423 PMID:14978175 More... NCBI chr13:68,471,957...68,544,788 JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 NCBI chr 9:83,875,958...84,004,955
Ensembl chr 9:83,875,561...84,001,895
JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876
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:105,118,762...105,322,699
Ensembl chr  X:105,118,820...105,322,692
JBrowse link
G Crb2 crumbs cell polarity complex component 2 ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25557779 PMID:27004616 PMID:28492532 PMID:32581362 NCBI chr 3:21,542,138...21,564,876
Ensembl chr 3:21,542,221...21,563,294
JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to
ClinVar Annotator: match by term: Nephrotic syndrome, idiopathic, steroid-resistant
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:600995
OMIM
ClinVar
CTD
PMID:1523708 PMID:8589695 PMID:8606597 PMID:10742096 PMID:11729243 More... NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313
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 chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
JBrowse link
G Nup205 nucleoporin 205 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr 4:63,854,934...63,920,852
Ensembl chr 4:63,854,783...63,920,844
JBrowse link
G Nup93 nucleoporin 93 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr19:10,684,214...10,788,009
Ensembl chr19:10,682,075...10,788,026
JBrowse link
G Pla2g7 phospholipase A2 group VII disease_progression ISO RGD PMID:9853251 RGD:7248793 NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO DNA:mutations: : RGD PMID:20591883 RGD:7257521 NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438
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 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:29058690 NCBI chr 7:62,828,997...62,864,784
Ensembl chr 7:62,845,488...62,864,769
JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Familial idiopathic steroid-resistant nephrotic syndrome
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
JBrowse link
G Xpo5 exportin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr 9:14,740,182...14,778,171
Ensembl chr 9:14,740,182...14,778,171
JBrowse link
Salcedo Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmx1b LIM homeobox transcription factor 1 beta ISO ClinVar Annotator: match by term: Focal Segmental Glomerulosclerosis 10 OMIM
ClinVar
PMID:23687361 PMID:24042019 PMID:25741868 PMID:26560070 PMID:28059119 More... NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899
JBrowse link
Tubulointerstitial Fibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epo erythropoietin treatment ISO RGD PMID:22678524 RGD:10401065 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
JBrowse link
G Gclm glutamate cysteine ligase, modifier subunit IEP RGD PMID:21152904 RGD:5134352 NCBI chr 2:210,347,482...210,367,537
Ensembl chr 2:210,347,482...210,367,535
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ameliorates IMP
IEP
mRNA:increased expression:kidney RGD PMID:23249995 PMID:15007308 RGD:13446413, RGD:1304308 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Tgfbi transforming growth factor, beta induced IEP mRNA, protein:increased expression:kidney RGD PMID:15007308 RGD:1304308 NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Pathological Conditions, Signs and Symptoms 10289
      Pathologic Processes 6728
        Fibrosis 1462
          renal fibrosis 194
            Tubulointerstitial Fibrosis 8
            glomerulosclerosis + 151
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      Urogenital Diseases 4386
        urinary system disease 2155
          kidney disease 1936
            renal fibrosis 194
              Tubulointerstitial Fibrosis 8
              glomerulosclerosis + 151
paths to the root