Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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 chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
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 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO mRNA:decreased expression:kidney RGD PMID:12495295 RGD:6903859 NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380
JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO mRNA:increased expression:kidney
associated with Kidney Failure, Chronic
RGD PMID:12495295, PMID:20042458, PMID:20631980 RGD:6903284, RGD:6903859, RGD:6903882 NCBI chr  X:105,252,903...105,257,171
Ensembl chr  X:115,671,594...115,672,685
JBrowse link
G APOE apolipoprotein E ISO protein:increased expression:renal glomerulus (rat) RGD PMID:21907828, PMID:22207560 RGD:6903199, RGD:6903285 NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO RGD PMID:20610530 RGD:7257557 NCBI chr2B:76,285,115...76,322,703
Ensembl chr2B:194,204,613...194,242,956
JBrowse link
G ESR2 estrogen receptor 2 susceptibility ISO protein:decreased expression:renal glomerulus (mouse) RGD PMID:12000739 RGD:7364801 NCBI chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303
JBrowse link
G FBN1 fibrillin 1 ISO associated with Hypertension RGD PMID:16380460 RGD:7365080 NCBI chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111
JBrowse link
G HBEGF heparin binding EGF like growth factor induced ISO RGD PMID:16107576 RGD:1556472 NCBI chr 5:135,699,553...135,713,366
Ensembl chr 5:141,816,402...141,830,531
JBrowse link
G IL1B interleukin 1 beta ISO associated with Hypertension RGD PMID:19948880 RGD:7175503 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G MMP1 matrix metallopeptidase 1 ISO protein:decreased expression:kidney (rat)
associated with Hyperhomocysteinemia
RGD PMID:20406136, PMID:21275176 RGD:7207203, RGD:7207363 NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104
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 chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G PLA2G7 phospholipase A2 group VII ISO RGD PMID:16213192 RGD:7248790 NCBI chr 6:46,264,262...46,318,487
Ensembl chr 6:47,558,861...47,590,212
JBrowse link
G PLEKHA7 pleckstrin homology domain containing A7 ISO RGD PMID:25136115 RGD:11079199 NCBI chr11:16,861,464...17,095,610
Ensembl chr11:16,555,368...16,647,075
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma treatment ISO RGD PMID:11318962 RGD:8553043 NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060
JBrowse link
G RGS2 regulator of G protein signaling 2 susceptibility ISO associated with Hypertension RGD PMID:26606876 RGD:13524570 NCBI chr 1:168,273,112...168,276,348
Ensembl chr 1:172,566,701...172,569,955
JBrowse link
G RNLS renalase, FAD dependent amine oxidase ISO RGD PMID:24022426 RGD:7327155 NCBI chr10:84,996,999...85,304,240
Ensembl chr10:88,503,683...88,808,990
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 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO RGD PMID:19918242 RGD:12879501 NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143
JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:12675855 RGD:6903837 NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO associated with Hypertension RGD PMID:23389459 RGD:7245475 NCBI chr 1:10,915,743...10,957,765
Ensembl chr 1:12,130,663...12,172,646
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:8,189,267...8,229,415
Ensembl chr  X:15,470,896...15,510,891
JBrowse link
G ACTA2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:20493835 NCBI chr10:85,660,983...85,678,729
Ensembl chr10:89,164,344...89,182,080
JBrowse link
G ACTN4 actinin alpha 4 susceptibility ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:10700177 RGD:1598731 NCBI chr19:35,742,758...35,825,321
Ensembl chr19:44,313,569...44,395,508
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 chr2B:827,184...900,424
Ensembl chr2B:114,373,392...114,445,729
JBrowse link
G AGT angiotensinogen ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:19858406, PMID:21357516 RGD:5129175 NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044
JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO protein:increased expression:kidney cortex RGD PMID:21357516 RGD:5129175 NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380
JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO protein:increased expression:kidney cortex RGD PMID:21357516 RGD:5129175 NCBI chr  X:105,252,903...105,257,171
Ensembl chr  X:115,671,594...115,672,685
JBrowse link
G ANGPT2 angiopoietin 2 ISO mRNA, protein:increased expression:glomerulus (rat) RGD PMID:16628643 RGD:2314213 NCBI chr 8:718,367...782,534
Ensembl chr 8:6,506,014...6,566,915
JBrowse link
G ANLN anillin actin binding protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:37,011,518...37,075,349
Ensembl chr 7:37,243,917...37,304,137
JBrowse link
G BDKRB1 bradykinin receptor B1 ISO RGD PMID:21412216 RGD:7175321 NCBI chr14:76,885,923...76,894,456 JBrowse link
G CASP9 caspase 9 treatment ISO RGD PMID:28245472 RGD:13782344 NCBI chr 1:14,630,659...14,662,865
Ensembl chr 1:15,624,666...15,656,266
JBrowse link
G CAT catalase ISO RGD PMID:22443450 RGD:7205647 NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
JBrowse link
G CCN2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17121042 NCBI chr 6:129,729,572...129,733,113
Ensembl chr 6:133,836,319...133,842,077
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 6:47,065,284...47,210,746
Ensembl chr 6:48,328,863...48,474,163
JBrowse link
G CFB complement factor B ISO RGD PMID:17522263 RGD:7242704 NCBI chr 6:31,606,716...31,612,782 JBrowse link
G COL4A1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:16191423, PMID:18682491 NCBI chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529
JBrowse link
G CRB2 crumbs cell polarity complex component 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:94,473,423...94,511,285
Ensembl chr 9:123,011,968...123,032,855
JBrowse link
G EDN1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16191423 NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545
JBrowse link
G FN1 fibronectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16191423 NCBI chr2B:102,623,568...102,698,747
Ensembl chr2B:221,208,431...221,284,003
JBrowse link
G GNAQ G protein subunit alpha q ISO CTD Direct Evidence: marker/mechanism CTD PMID:16267159 NCBI chr 9:46,816,409...47,129,116
Ensembl chr 9:76,575,815...76,773,849
JBrowse link
G HAVCR1 hepatitis A virus cellular receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19225054 NCBI chr 5:152,429,337...152,459,800
Ensembl chr 5:158,413,073...158,442,481
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 7:67,716,021...67,717,762
Ensembl chr 7:82,751,523...82,752,984
JBrowse link
G IL1B interleukin 1 beta ISO RGD PMID:21412216 RGD:7175321 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
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 NCBI chr14:85,339,478...85,366,336
Ensembl chr14:105,145,779...105,163,154
JBrowse link
G ITGB3 integrin subunit beta 3 ISO RGD PMID:21804539 RGD:6907385 NCBI chr17:10,134,450...10,194,596 JBrowse link
G LAMB2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar NCBI chr 3:49,045,419...49,057,340
Ensembl chr 3:50,125,460...50,137,074
JBrowse link
G LIPC lipase C, hepatic type ISO protein:reduced expression:serum (rat) RGD PMID:14531811 RGD:2308781 NCBI chr15:37,363,507...37,537,723
Ensembl chr15:55,814,017...55,847,005
JBrowse link
G LOC100978865 nuclear RNA export factor 2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:23686279 NCBI chr  X:91,029,232...91,040,710 JBrowse link
G LPL lipoprotein lipase ISO RGD PMID:14531811 RGD:2308781 NCBI chr 8:19,164,541...19,193,100
Ensembl chr 8:16,113,415...16,142,966
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO mRNA, protein:increased expression, increased activity:kidney RGD PMID:19357873 RGD:2325738 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO mRNA, protein:increased expression, increased activity:kidney RGD PMID:19357873 RGD:2325738 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18818194 NCBI chr2A:27,311,551...27,325,249
Ensembl chr2A:27,399,258...27,414,090
JBrowse link
G MYH10 myosin heavy chain 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9678433 NCBI chr17:43,023,922...43,180,159
Ensembl chr17:47,761,322...47,911,192
JBrowse link
G MYH9 myosin heavy chain 9 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:18794856, PMID:21402784 RGD:6903254 NCBI chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618
JBrowse link
G MYO1E myosin IE ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:38,106,599...38,343,040
Ensembl chr15:56,413,570...56,649,722
JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16191423 NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093
JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin disease_progression ISO mRNA:increased expression:urine (human) RGD PMID:21414970 RGD:38549367 NCBI chr19:32,742,802...32,770,600
Ensembl chr19:41,492,444...41,518,471
JBrowse link
G NPHS2 NPHS2 stomatin family member, podocin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15942677 NCBI chr 1:155,038,753...155,064,332 JBrowse link
G NUP93 nucleoporin 93 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis ClinVar PMID:32581362 NCBI chr16:37,007,481...37,122,785
Ensembl chr16:56,140,546...56,255,561
JBrowse link
G PAX2 paired box 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:97,344,978...97,429,086
Ensembl chr10:100,822,676...100,904,028
JBrowse link
G PCNA proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:17121042 NCBI chr20:5,134,930...5,146,603
Ensembl chr20:4,927,731...4,939,440
JBrowse link
G PIAS1 protein inhibitor of activated STAT 1 ISO RGD PMID:19350281 RGD:8693412 NCBI chr15:47,006,718...47,141,035
Ensembl chr15:65,276,530...65,410,105
JBrowse link
G PPP3CA protein phosphatase 3 catalytic subunit alpha ISO RGD PMID:26436650 RGD:13515117 NCBI chr 4:93,447,095...93,770,339
Ensembl chr 4:104,113,520...104,435,394
JBrowse link
G PPP3CB protein phosphatase 3 catalytic subunit beta ISO RGD PMID:26436650 RGD:13515117 NCBI chr10:69,984,241...70,043,352
Ensembl chr10:72,443,051...72,501,752
JBrowse link
G RAP1GAP RAP1 GTPase activating protein ISO mRNA:increased expression:renal glomerulus (human) RGD PMID:24642466 RGD:9835343 NCBI chr 1:20,790,076...20,860,511
Ensembl chr 1:21,754,733...21,824,405
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 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:24744439 RGD:12859042 NCBI chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651
JBrowse link
G SPP1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9294829 NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16191423, PMID:18682491, PMID:20493835 NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:serum RGD PMID:21221075 RGD:7245511 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO protein:increased expression:serum RGD PMID:21221075 RGD:7245511 NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO protein:increased expression:serum RGD PMID:21221075 RGD:7245511 NCBI chr 1:10,915,743...10,957,765
Ensembl chr 1:12,130,663...12,172,646
JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 treatment ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
DNA:nonsense mutation, missense mutations: :multiple
DNA:SNP:exon:p.P15S (human)
DNA:missense mutation:exon:p.P112Q (human)
CTD
ClinVar
RGD
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 chr11:96,414,498...96,551,670
Ensembl chr11:99,919,410...100,050,685
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 9:2,428,639...2,463,796
Ensembl chr 9:2,621,199...2,653,980
JBrowse link
G VWF von Willebrand factor ISO RGD PMID:22295953 RGD:7207031 NCBI chr12:6,073,836...6,249,806
Ensembl chr12:5,990,612...6,165,153
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 chr11:32,349,807...32,398,494 JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17152860 NCBI chr 1:39,545,264...39,589,721
Ensembl chr 1:40,869,076...40,912,747
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 chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
JBrowse link
G ACTN4 actinin alpha 4 ISO OMIM NCBI chr19:35,742,758...35,825,321
Ensembl chr19:44,313,569...44,395,508
JBrowse link
G ARHGAP24 Rho GTPase activating protein 24 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 ClinVar NCBI chr 4:77,788,074...78,316,357
Ensembl chr 4:88,619,296...89,045,861
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 chr11:96,414,498...96,551,670
Ensembl chr11:99,919,410...100,050,685
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 6:47,065,284...47,210,746
Ensembl chr 6:48,328,863...48,474,163
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 NCBI chr14:85,339,478...85,366,336
Ensembl chr14:105,145,779...105,163,154
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 OMIM NCBI chr15:38,106,599...38,343,040
Ensembl chr15:56,413,570...56,649,722
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 chr10:97,344,978...97,429,086
Ensembl chr10:100,822,676...100,904,028
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 chr 7:37,011,518...37,075,349
Ensembl chr 7:37,243,917...37,304,137
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 9:94,473,423...94,511,285
Ensembl chr 9:123,011,968...123,032,855
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 4:113,868,218...113,897,243
Ensembl chr 4:125,006,038...125,034,972
JBrowse link
G AVIL advillin ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:29058690 NCBI chr12:31,108,569...31,129,307
Ensembl chr12:31,369,872...31,389,847
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 1:154,847,978...155,043,339
Ensembl chr 1:158,536,967...158,724,251
JBrowse link
G COL4A3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 NCBI chr2B:114,410,703...114,559,336
Ensembl chr2B:233,294,783...233,371,021
JBrowse link
G COL4A4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 NCBI chr2B:114,227,135...114,410,564
Ensembl chr2B:233,065,678...233,205,892
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:97,538,978...97,797,019
Ensembl chr  X:108,008,689...108,166,095
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 9:94,473,423...94,511,285
Ensembl chr 9:123,011,968...123,032,855
JBrowse link
G NPHS2 NPHS2 stomatin family member, podocin ISO OMIM NCBI chr 1:155,038,753...155,064,332 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 5:138,634,278...139,089,171
Ensembl chr 5:144,741,452...144,865,269
JBrowse link
G NUP205 nucleoporin 205 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr 7:127,525,777...127,620,680
Ensembl chr 7:140,037,092...140,118,983
JBrowse link
G NUP93 nucleoporin 93 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr16:37,007,481...37,122,785
Ensembl chr16:56,140,546...56,255,561
JBrowse link
G PLA2G7 phospholipase A2 group VII disease_progression ISO RGD PMID:9853251 RGD:7248793 NCBI chr 6:46,264,262...46,318,487
Ensembl chr 6:47,558,861...47,590,212
JBrowse link
G PLCE1 phospholipase C epsilon 1 ISO DNA:mutations: : RGD PMID:20591883 RGD:7257521 NCBI chr10:90,731,695...91,065,846
Ensembl chr10:94,278,550...94,575,024
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 chr11:96,414,498...96,551,670
Ensembl chr11:99,919,410...100,050,685
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 chr11:32,349,807...32,398,494 JBrowse link
G XPO5 exportin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr 6:43,114,408...43,168,113
Ensembl chr 6:44,406,765...44,458,029
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12749
    Pathological Conditions, Signs and Symptoms 7530
      Pathologic Processes 5542
        Fibrosis 1265
          renal fibrosis 116
            glomerulosclerosis 82
              focal segmental glomerulosclerosis + 70
Path 2
Term Annotations click to browse term
  disease 12749
    disease of anatomical entity 12279
      Urogenital Diseases 3650
        urinary system disease 1628
          kidney disease 1435
            nephritis 332
              glomerulonephritis 289
                glomerulosclerosis 82
                  focal segmental glomerulosclerosis + 70
paths to the root

NHLBI Logo

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