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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 treatment ISO RGD PMID:21718676 RGD:12879389 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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 chr 6:32,180,969...32,184,380
Ensembl chr 6:32,180,968...32,184,322
JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO mRNA:decreased expression:kidney RGD PMID:12495295 RGD:6903859 NCBI chr 3:148,697,871...148,743,003
Ensembl chr 3:148,697,784...148,743,008
JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO 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:116,170,744...116,174,974
Ensembl chr  X:116,170,744...116,174,974
JBrowse link
G APOE apolipoprotein E ISO protein:increased expression:renal glomerulus (rat) RGD PMID:22207560, PMID:21907828 RGD:6903199, RGD:6903285 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO RGD PMID:20610530 RGD:7257557 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
G ESR2 estrogen receptor 2 susceptibility ISO protein:decreased expression:renal glomerulus (mouse) RGD PMID:12000739 RGD:7364801 NCBI chr14:64,226,707...64,338,631
Ensembl chr14:64,084,232...64,338,112
JBrowse link
G FBN1 fibrillin 1 ISO associated with Hypertension RGD PMID:16380460 RGD:7365080 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,306...48,645,849
Ensembl chr15:48,408,306...48,645,849
JBrowse link
G HBEGF heparin binding EGF like growth factor induced IDA RGD PMID:16107576 RGD:1556472 NCBI chr 5:140,332,843...140,346,603
Ensembl chr 5:140,332,843...140,346,603
JBrowse link
G IL1B interleukin 1 beta ISO associated with Hypertension RGD PMID:19948880 RGD:7175503 NCBI chr 2:112,829,751...112,836,843
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G MMP1 matrix metallopeptidase 1 ISO associated with Hyperhomocysteinemia
protein:decreased expression:kidney (rat)
RGD PMID:20406136, PMID:21275176 RGD:7207203, RGD:7207363 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,919...102,798,160
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO associated with Hyperhomocysteinemia
associated with Obesity;mRNA:decreased expression:glomerulus
RGD PMID:20406136, PMID:9300240 RGD:7207203, RGD:8547929 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G PLA2G7 phospholipase A2 group VII IMP RGD PMID:16213192 RGD:7248790 NCBI chr 6:46,700,558...46,735,836
Ensembl chr 6:46,704,201...46,735,693
JBrowse link
G PLEKHA7 pleckstrin homology domain containing A7 ISO RGD PMID:25136115 RGD:11079199 NCBI chr11:16,777,297...17,014,423
Ensembl chr11:16,777,297...17,014,414
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma treatment ISO RGD PMID:11318962 RGD:8553043 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
JBrowse link
G RGS2 regulator of G protein signaling 2 susceptibility ISO associated with Hypertension RGD PMID:26606876 RGD:13524570 NCBI chr 1:192,809,039...192,812,275
Ensembl chr 1:192,809,039...192,812,275
JBrowse link
G RNLS renalase, FAD dependent amine oxidase ISO RGD PMID:24022426 RGD:7327155 NCBI chr10:88,176,052...88,584,480
Ensembl chr10:88,273,864...88,584,530
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 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO RGD PMID:19918242 RGD:12879501 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893
Ensembl chr 1:42,925,353...42,958,893
JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:12675855 RGD:6903837 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,650...87,983,426
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO associated with Hypertension RGD PMID:23389459 RGD:7245475 NCBI chr 1:12,166,948...12,209,222
Ensembl chr 1:12,166,991...12,209,228
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16723697 NCBI chr  X:15,518,197...15,602,158
Ensembl chr  X:15,561,033...15,602,148
JBrowse link
G ACTA2 actin alpha 2, smooth muscle EXP CTD Direct Evidence: marker/mechanism CTD PMID:20493835 NCBI chr10:88,935,074...88,991,397
Ensembl chr10:88,935,074...88,991,339
JBrowse link
G ACTN4 actinin alpha 4 susceptibility IAGP
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:10700177 RGD:1598731 NCBI chr19:38,647,649...38,731,589
Ensembl chr19:38,647,649...38,731,589
JBrowse link
G ACTR3 actin related protein 3 ISO DNA:missense mutation:cds:p.L111F (rat)
protein:increased expression:renal glomerulus (rat)
RGD PMID:18064521, PMID:27251563 RGD:2292230, RGD:11575049 NCBI chr 2:113,889,934...113,962,596
Ensembl chr 2:113,890,063...113,962,596
JBrowse link
G AGT angiotensinogen ISO
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:19858406, PMID:21357516 RGD:5129175 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,702,523...230,714,122
JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO protein:increased expression:kidney cortex RGD PMID:21357516 RGD:5129175 NCBI chr 3:148,697,871...148,743,003
Ensembl chr 3:148,697,784...148,743,008
JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO protein:increased expression:kidney cortex RGD PMID:21357516 RGD:5129175 NCBI chr  X:116,170,744...116,174,974
Ensembl chr  X:116,170,744...116,174,974
JBrowse link
G ANGPT2 angiopoietin 2 ISO mRNA, protein:increased expression:glomerulus (rat) RGD PMID:16628643 RGD:2314213 NCBI chr 8:6,499,632...6,563,420
Ensembl chr 8:6,499,651...6,563,409
Ensembl chr 8:6,499,651...6,563,409
JBrowse link
G ANLN anillin actin binding protein EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:36,389,809...36,453,791
Ensembl chr 7:36,389,821...36,453,791
JBrowse link
G APOL1 apolipoprotein L1 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyalinosis, Segmental Glomerular
CTD
ClinVar
PMID:20635188, PMID:20647424, PMID:20668430, PMID:21997394, PMID:24033266, PMID:24206458, PMID:25741868, PMID:25993319, PMID:28218918, PMID:28650456, PMID:32581362 NCBI chr22:36,253,071...36,267,531
Ensembl chr22:36,253,010...36,267,530
Ensembl chr22:36,253,010...36,267,530
JBrowse link
G BDKRB1 bradykinin receptor B1 ISO RGD PMID:21412216 RGD:7175321 NCBI chr14:96,256,210...96,264,763
Ensembl chr14:96,256,210...96,268,967
JBrowse link
G CASP9 caspase 9 treatment ISO RGD PMID:28245472 RGD:13782344 NCBI chr 1:15,491,401...15,524,912
Ensembl chr 1:15,490,832...15,526,534
JBrowse link
G CAT catalase ISO RGD PMID:22443450 RGD:7205647 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
JBrowse link
G CCL11 C-C motif chemokine ligand 11 treatment ISO RGD PMID:22427838 RGD:7247740 NCBI chr17:34,285,742...34,288,334
Ensembl chr17:34,285,742...34,288,334
JBrowse link
G CCL3 C-C motif chemokine ligand 3 IEP RGD PMID:17684420 RGD:7241818 NCBI chr17:36,088,256...36,090,143
Ensembl chr17:36,088,256...36,090,169
JBrowse link
G CCN2 cellular communication network factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17121042 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372
JBrowse link
G CD2AP CD2 associated protein IAGP
EXP
FSGS3, OMIM:607832, DNA:splice-site mutaton
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
CTD
ClinVar
PMID:12764198 RGD:1600628 NCBI chr 6:47,477,746...47,627,263
Ensembl chr 6:47,477,789...47,627,263
JBrowse link
G CFB complement factor B ISO RGD PMID:17522263 RGD:7242704 NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,084
JBrowse link
G CMAS cytidine monophosphate N-acetylneuraminic acid synthetase ISS MouseDO NCBI chr12:22,046,218...22,065,668
Ensembl chr12:22,046,218...22,065,674
JBrowse link
G COL4A1 collagen type IV alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:16191423, PMID:18682491 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,157
JBrowse link
G CRB2 crumbs cell polarity complex component 2 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:123,354,065...123,380,326
Ensembl chr 9:123,356,170...123,380,324
JBrowse link
G EDN1 endothelin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16191423 NCBI chr 6:12,256,463...12,297,194
Ensembl chr 6:12,290,361...12,297,194
JBrowse link
G FN1 fibronectin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16191423 NCBI chr 2:215,360,862...215,436,167
Ensembl chr 2:215,360,440...215,436,073
JBrowse link
G GNAQ G protein subunit alpha q EXP CTD Direct Evidence: marker/mechanism CTD PMID:16267159 NCBI chr 9:77,716,097...78,031,811
Ensembl chr 9:77,716,097...78,031,811
JBrowse link
G HAVCR1 hepatitis A virus cellular receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19225054 NCBI chr 5:157,028,383...157,069,633
Ensembl chr 5:157,029,413...157,059,119
JBrowse link
G HSPB1 heat shock protein family B (small) member 1 IEP protein:increased expression:glomerulus, podocyte: RGD PMID:21931298 RGD:10402764 NCBI chr 7:76,302,673...76,304,292
Ensembl chr 7:76,302,673...76,304,295
JBrowse link
G IL1B interleukin 1 beta ISO RGD PMID:21412216 RGD:7175321 NCBI chr 2:112,829,751...112,836,843
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G INF2 inverted formin 2 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
CTD
ClinVar
PMID:20023659, PMID:25741868, PMID:26467025 NCBI chr14:104,689,618...104,722,535
Ensembl chr14:104,681,146...104,722,535
Ensembl chr14:104,681,146...104,722,535
JBrowse link
G ITGB3 integrin subunit beta 3 ISO RGD PMID:21804539 RGD:6907385 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,846...47,313,735
Ensembl chr17:47,253,846...47,313,735
Ensembl chr17:47,253,846...47,313,735
JBrowse link
G LAMB2 laminin subunit beta 2 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar NCBI chr 3:49,121,114...49,133,066
Ensembl chr 3:49,121,114...49,133,118
JBrowse link
G LIPC lipase C, hepatic type ISO protein:reduced expression:serum (rat) RGD PMID:14531811 RGD:2308781 NCBI chr15:58,410,457...58,569,844
Ensembl chr15:58,410,569...58,569,844
JBrowse link
G LPL lipoprotein lipase ISO RGD PMID:14531811 RGD:2308781 NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259
JBrowse link
G MIR193A microRNA 193a ISS OMIM:607832 | OMIM:612551 MouseDO NCBI chr17:31,559,996...31,560,083
Ensembl chr17:31,559,996...31,560,083
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO mRNA, protein:increased expression, increased activity:kidney RGD PMID:19357873 RGD:2325738 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO mRNA, protein:increased expression, increased activity:kidney RGD PMID:19357873 RGD:2325738 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18818194 NCBI chr 2:27,309,492...27,323,097
Ensembl chr 2:27,309,492...27,325,680
JBrowse link
G MT-TY mitochondrially encoded tRNA-Tyr (UAU/C) IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis and dilated cardiomyopathy ClinVar PMID:14598342, PMID:31965079 NCBI chr MT:5,826...5,891
Ensembl chr MT:5,826...5,891
JBrowse link
G MYH10 myosin heavy chain 10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9678433 NCBI chr17:8,474,212...8,631,369
Ensembl chr17:8,474,205...8,630,761
Ensembl chr17:8,474,205...8,630,761
JBrowse link
G MYH9 myosin heavy chain 9 ISO
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:18794856, PMID:21402784 RGD:6903254 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,277...36,388,067
Ensembl chr22:36,281,277...36,388,067
JBrowse link
G MYO1E myosin IE EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr15:59,132,434...59,372,871
Ensembl chr15:59,132,434...59,372,871
JBrowse link
G NOS2 nitric oxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16191423 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin disease_progression IEP mRNA:increased expression:urine (human) RGD PMID:21414970 RGD:38549367 NCBI chr19:35,862,915...35,869,287
Ensembl chr19:35,825,964...35,869,287
JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin EXP
IAGP
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 chr19:35,825,372...35,852,504
Ensembl chr19:35,825,964...35,869,287
JBrowse link
G NPHS2 NPHS2 stomatin family member, podocin EXP CTD Direct Evidence: marker/mechanism CTD PMID:15942677 NCBI chr 1:179,550,539...179,575,987
Ensembl chr 1:179,550,539...179,575,952
JBrowse link
G NUP93 nucleoporin 93 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:32581362 NCBI chr16:56,730,129...56,850,286
Ensembl chr16:56,730,118...56,850,286
JBrowse link
G NXF5 nuclear RNA export factor 5 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:23686279 NCBI chr  X:101,832,112...101,857,577
Ensembl chr  X:101,832,112...101,857,577
JBrowse link
G PAX2 paired box 2 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr10:100,735,396...100,829,944
Ensembl chr10:100,735,603...100,829,941
Ensembl chr10:100,735,603...100,829,941
JBrowse link
G PCNA proliferating cell nuclear antigen EXP CTD Direct Evidence: marker/mechanism CTD PMID:17121042 NCBI chr20:5,114,953...5,126,622
Ensembl chr20:5,114,953...5,126,626
JBrowse link
G PIAS1 protein inhibitor of activated STAT 1 ISO RGD PMID:19350281 RGD:8693412 NCBI chr15:68,054,315...68,193,847
Ensembl chr15:68,054,309...68,198,603
Ensembl chr15:68,054,309...68,198,603
JBrowse link
G PPP3CA protein phosphatase 3 catalytic subunit alpha IEP RGD PMID:26436650 RGD:13515117 NCBI chr 4:101,023,418...101,348,295
Ensembl chr 4:101,023,409...101,348,278
JBrowse link
G PPP3CB protein phosphatase 3 catalytic subunit beta IEP RGD PMID:26436650 RGD:13515117 NCBI chr10:73,436,433...73,496,024
Ensembl chr10:73,436,433...73,496,024
Ensembl chr10:73,436,433...73,496,024
JBrowse link
G RAP1GAP RAP1 GTPase activating protein IEP mRNA:increased expression:renal glomerulus (human) RGD PMID:24642466 RGD:9835343 NCBI chr 1:21,596,221...21,669,444
Ensembl chr 1:21,596,215...21,669,363
JBrowse link
G SERPINE1 serpin family E member 1 treatment ISO
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:18682491, PMID:22303720 RGD:13208548 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G SHH sonic hedgehog signaling molecule IEP RGD PMID:24744439 RGD:12859042 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
G SPP1 secreted phosphoprotein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9294829 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,650...87,983,426
JBrowse link
G SREBF2 sterol regulatory element binding transcription factor 2 ISO RGD PMID:16316337 RGD:1581416 NCBI chr22:41,833,105...41,907,308
Ensembl chr22:41,833,079...41,907,307
JBrowse link
G TGFB1 transforming growth factor beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16191423, PMID:18682491, PMID:20493835 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:serum RGD PMID:21221075 RGD:7245511 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO protein:increased expression:serum RGD PMID:21221075 RGD:7245511 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO protein:increased expression:serum RGD PMID:21221075 RGD:7245511 NCBI chr 1:12,166,948...12,209,222
Ensembl chr 1:12,166,991...12,209,228
JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 treatment ISO
IAGP
EXP
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
PMID:26892346, PMID:32581362, PMID:23385000, PMID:15879175, PMID:15924139, PMID:21839714, PMID:22980509 RGD:7247440, RGD:7247581, RGD:7247580, RGD:7247445, RGD:7247444 NCBI chr11:101,451,470...101,584,007
Ensembl chr11:101,451,564...101,872,562
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 9:2,621,786...2,660,056
Ensembl chr 9:2,621,787...2,660,056
JBrowse link
G VWF von Willebrand factor IEP RGD PMID:22295953 RGD:7207031 NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770
Ensembl chr12:5,948,877...6,124,770
JBrowse link
G WT1 WT1 transcription factor IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:25145932, PMID:25349199, PMID:25383892, PMID:25741868 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
Ensembl chr11:32,387,775...32,435,564
JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17152860 NCBI chr 1:40,258,078...40,294,180
Ensembl chr 1:40,258,041...40,294,180
Ensembl chr 1:40,258,041...40,294,180
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 ISO RGD PMID:8505110 RGD:12880006 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G ACTN4 actinin alpha 4 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 OMIM
ClinVar
PMID:10700177, PMID:16251236, PMID:22351778, PMID:25741868, PMID:26467025, PMID:26740551 NCBI chr19:38,647,649...38,731,589
Ensembl chr19:38,647,649...38,731,589
JBrowse link
G APOL1 apolipoprotein L1 IAGP ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:20635188, PMID:20668430, PMID:24033266, PMID:24206458, PMID:32581362 NCBI chr22:36,253,071...36,267,531
Ensembl chr22:36,253,010...36,267,530
Ensembl chr22:36,253,010...36,267,530
JBrowse link
G ARHGAP24 Rho GTPase activating protein 24 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 ClinVar NCBI chr 4:85,475,150...86,002,666
Ensembl chr 4:85,475,150...86,002,668
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 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 2 ClinVar
OMIM
PMID:2298509, PMID:10200986, PMID:15879175, PMID:15924139, PMID:19380626, PMID:19936226, PMID:22980509, PMID:23291369, PMID:25019165, PMID:25741868, PMID:26467025, PMID:26892346, PMID:28204945, PMID:28492532, PMID:30295827 NCBI chr11:101,451,470...101,584,007
Ensembl chr11:101,451,564...101,872,562
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 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 3, susceptibility to OMIM
ClinVar
PMID:17713465, PMID:22971997, PMID:25741868, PMID:28492532 NCBI chr 6:47,477,746...47,627,263
Ensembl chr 6:47,477,789...47,627,263
JBrowse link
Focal Segmental Glomerulosclerosis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOL1 apolipoprotein L1 susceptibility IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 4, susceptibility to OMIM
ClinVar
PMID:20635188, PMID:20647424, PMID:20668430, PMID:21997394, PMID:24033266, PMID:24206458, PMID:25741868, PMID:25993319, PMID:28218918, PMID:28650456, PMID:32581362 NCBI chr22:36,253,071...36,267,531
Ensembl chr22:36,253,010...36,267,530
Ensembl chr22:36,253,010...36,267,530
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 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 ClinVar
OMIM
PMID:6054293, PMID:20023659, PMID:20803156, PMID:21258034, PMID:21866090, PMID:22187985, PMID:22961558, PMID:23349334, PMID:23515051, PMID:24174593, PMID:25165188, PMID:25407002, PMID:25676889, PMID:25741868, PMID:25741869, PMID:26248470, PMID:26467025, PMID:26764407, PMID:27350175, PMID:28492532, PMID:28780565, PMID:29653220, PMID:30126379, PMID:30311386, PMID:30373780 NCBI chr14:104,689,618...104,722,535
Ensembl chr14:104,681,146...104,722,535
Ensembl chr14:104,681,146...104,722,535
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 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 ClinVar
OMIM
PMID:21756023 NCBI chr15:59,132,434...59,372,871
Ensembl chr15:59,132,434...59,372,871
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 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 7 ClinVar
OMIM
PMID:3377002, PMID:8589702, PMID:9106533, PMID:11093271, PMID:11241473, PMID:22213154, PMID:24429398, PMID:24676634, PMID:25741868, PMID:27226968, PMID:28492532, PMID:30311386 NCBI chr10:100,735,396...100,829,944
Ensembl chr10:100,735,603...100,829,941
Ensembl chr10:100,735,603...100,829,941
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 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 8 ClinVar
OMIM
PMID:24676636, PMID:25741868, PMID:28492532 NCBI chr 7:36,389,809...36,453,791
Ensembl chr 7:36,389,821...36,453,791
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 IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 9 ClinVar
OMIM
PMID:25557779, PMID:28492532, PMID:32581362 NCBI chr 9:123,354,065...123,380,326
Ensembl chr 9:123,356,170...123,380,324
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 IEP protein:increased expression:urine RGD PMID:17999093 RGD:7242031 NCBI chr 4:121,667,946...121,696,994
Ensembl chr 4:121,667,946...121,696,995
JBrowse link
G APOL1 apolipoprotein L1 IAGP ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:20635188, PMID:20668430, PMID:24033266, PMID:24206458, PMID:32581362 NCBI chr22:36,253,071...36,267,531
Ensembl chr22:36,253,010...36,267,530
Ensembl chr22:36,253,010...36,267,530
JBrowse link
G AVIL advillin IAGP ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:29058690 NCBI chr12:57,797,376...57,818,704
Ensembl chr12:57,797,376...57,818,704
JBrowse link
G AXDND1 axonemal dynein light chain domain containing 1 IAGP ClinVar Annotator: match by term: Nephrotic syndrome, idiopathic, steroid-resistant
ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
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 1:179,365,704...179,554,735
Ensembl chr 1:179,365,720...179,554,735
JBrowse link
G COL4A3 collagen type IV alpha 3 chain IAGP ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 NCBI chr 2:227,164,589...227,314,792
Ensembl chr 2:227,164,624...227,314,792
Ensembl chr 2:227,164,624...227,314,792
JBrowse link
G COL4A4 collagen type IV alpha 4 chain IAGP ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 NCBI chr 2:226,970,293...227,164,482
Ensembl chr 2:227,002,714...227,164,453
Ensembl chr 2:227,002,714...227,164,453
JBrowse link
G COL4A5 collagen type IV alpha 5 chain IAGP ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:32581362 NCBI chr  X:108,439,838...108,697,545
Ensembl chr  X:108,439,844...108,697,545
Ensembl chr  X:108,439,844...108,697,545
JBrowse link
G CRB2 crumbs cell polarity complex component 2 IAGP ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25557779, PMID:32581362 NCBI chr 9:123,354,065...123,380,326
Ensembl chr 9:123,356,170...123,380,324
JBrowse link
G MFF-DT MFF divergent transcript IAGP ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 NCBI chr 2:227,221,052...227,325,164
Ensembl chr 2:227,221,052...227,325,711
JBrowse link
G NPHS2 NPHS2 stomatin family member, podocin IAGP
EXP
ClinVar Annotator: match by term: Nephrotic syndrome, idiopathic, steroid-resistant
ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:8589695, PMID:8606597, PMID:10742096, PMID:11729243, PMID:11733557, PMID:11805166, PMID:11805168, PMID:11854170, PMID:12464671, PMID:12608558, PMID:12644922, PMID:12649741, PMID:12707396, PMID:12776285, PMID:14570703, PMID:14675423, PMID:14701729, PMID:14871423, PMID:14978175, PMID:15015071, PMID:15042551, PMID:15059485, PMID:15253708, PMID:15322893, PMID:15327385, PMID:15338398, PMID:15496146, PMID:15504144, PMID:15627790, PMID:15769810, PMID:15780077, PMID:15817495, PMID:15954915, PMID:15968559, PMID:16286890, PMID:16481888, PMID:16721582, PMID:16810518, PMID:16898497, PMID:16900088, PMID:16968734, PMID:17109732, PMID:17216259, PMID:17218332, PMID:17371932, PMID:17635752, PMID:17699384, PMID:17899208, PMID:17942774, PMID:17942957, PMID:18216321, PMID:18392643, PMID:18443213, PMID:18481113, PMID:18499321, PMID:18543005, PMID:18596732, PMID:18683072, PMID:18726620, PMID:18823551, PMID:19067903, PMID:19145239, PMID:19268410, PMID:19371226, PMID:19406966, PMID:19520069, PMID:19674119, PMID:19812541, PMID:20001346, PMID:20025681, PMID:20333530, PMID:20507940, PMID:20798252, PMID:20947785, PMID:21125408, PMID:21171529, PMID:21355056, PMID:21415313, PMID:21636722, PMID:21722858, PMID:22228437, PMID:22565185, PMID:22578956, PMID:23013956, PMID:23242530, PMID:23349334, PMID:23515051, PMID:23595123, PMID:23645318, PMID:23800802, PMID:24033266, PMID:24072147, PMID:24089165, PMID:24227627, PMID:24500309, PMID:24509478, PMID:24511133, PMID:24519673, PMID:24715228, PMID:24742477, PMID:24856380, PMID:24969201, PMID:25349199, PMID:25525159, PMID:25599733, PMID:25741868, PMID:25852895, PMID:25903641, PMID:26138234, PMID:26211502, PMID:26248470, PMID:26413278, PMID:26420286, PMID:26467025, PMID:26467726, PMID:26594346, PMID:26668027, PMID:26820844, PMID:27766458, PMID:27885584, PMID:28117080, PMID:28204945, PMID:28385484, PMID:28492532, PMID:28529802, PMID:28658201, PMID:28712774, PMID:29049388, PMID:29382718, PMID:29660491, PMID:30241959, PMID:30260545, PMID:30655312, PMID:32581362 NCBI chr 1:179,550,539...179,575,987
Ensembl chr 1:179,550,539...179,575,952
JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 IEP mRNA:alternative form:blood, mononuclear cell RGD PMID:20419394 RGD:7174729 NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512
JBrowse link
G NUP205 nucleoporin 205 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr 7:135,557,917...135,648,753
Ensembl chr 7:135,557,917...135,648,757
JBrowse link
G NUP93 nucleoporin 93 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr16:56,730,129...56,850,286
Ensembl chr16:56,730,118...56,850,286
JBrowse link
G PLA2G7 phospholipase A2 group VII disease_progression IAGP RGD PMID:9853251 RGD:7248793 NCBI chr 6:46,700,558...46,735,836
Ensembl chr 6:46,704,201...46,735,693
JBrowse link
G PLCE1 phospholipase C epsilon 1 IAGP DNA:mutations: : RGD PMID:20591883 RGD:7257521 NCBI chr10:93,993,931...94,332,823
Ensembl chr10:93,993,931...94,332,823
Ensembl chr10:93,993,931...94,332,823
JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 IAGP DNA:missense mutations, SNPs:exon, intron:multiple RGD PMID:21511817 RGD:7247446 NCBI chr11:101,451,470...101,584,007
Ensembl chr11:101,451,564...101,872,562
JBrowse link
G TSFM Ts translation elongation factor, mitochondrial IAGP ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:29058690 NCBI chr12:57,782,787...57,802,856
Ensembl chr12:57,782,761...57,808,071
JBrowse link
G WT1 WT1 transcription factor IAGP 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 chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
Ensembl chr11:32,387,775...32,435,564
JBrowse link
G XPO5 exportin 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr 6:43,522,334...43,576,038
Ensembl chr 6:43,522,334...43,576,038
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    Pathological Conditions, Signs and Symptoms 9374
      Pathologic Processes 6604
        Fibrosis 1380
          renal fibrosis 127
            glomerulosclerosis 92
              focal segmental glomerulosclerosis + 80
Path 2
Term Annotations click to browse term
  disease 17774
    disease of anatomical entity 16335
      Urogenital Diseases 4523
        urinary system disease 1830
          kidney disease 1616
            nephritis 364
              glomerulonephritis 318
                glomerulosclerosis 92
                  focal segmental glomerulosclerosis + 80
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.