Glomerular Diseases - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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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:	Glomerular Diseases	go back to main search page
Accession:	DOID:9000104	browse the term
Definition:	A set of diseases affecting the glomeruli of the nephron, that may or may not be inflammatory.
Synonyms:	exact_synonym:	Glomerulopathy
	primary_id:	RDO:9000066
	xref:	EFO:1002049

show annotations for term's descendants Sort by:
Rat (434) Mouse (370) Human (3193) Chinchilla (326) Bonobo (351) Dog (356) Squirrel (333) Pig (349) Green Monkey (349) Naked Mole-rat (328) All
Genes (368) QTL (29) Strains (37)

Glomerular Diseases

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type IV alpha 5 chain

ClinVar Annotator: match by term: Glomerulopathy

PMID:9848783 PMID:11223851 PMID:12028435 PMID:17396119 PMID:19728970 More...

NCBI chr X:105,118,762...105,322,699
Ensembl chr X:105,118,820...105,322,692

anti-basement membrane glomerulonephritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensinogen

protein:increased expression:kidney, urine
mRNA, protein:increased expression:liver, plasma

RGD

PMID:21282555 PMID:7550093

RGD:5129185, RGD:11039051

NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977

G

angiotensin II receptor, type 1a

protein:increased expression:kidney

RGD

NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946

G

BCL2 associated X, apoptosis regulator

mRNA, protein:increased expression:kidney

RGD

NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368

G

BCL2, apoptosis regulator

mRNA, protein:decreased expression:kidney

RGD

NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743

G

C-C motif chemokine ligand 17

mRNA:increased expression:glomerulus

RGD

NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819

G

C-C motif chemokine ligand 2

treatment

mRNA:increased expression:glomerulus

RGD

PMID:17898087 PMID:20071465 PMID:21894146

RGD:2307059, RGD:4145614, RGD:6218988

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

C-C motif chemokine ligand 22

mRNA, protein:increased expression:glomerulus

RGD

NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400

G

C-C motif chemokine ligand 4

mRNA:increased expression:glomerulus

RGD

NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231

G

C-C motif chemokine ligand 5

mRNA:increased expression:glomerulus

RGD

NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377

G

CD274 molecule

treatment

RGD

NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450

G

CD40 molecule

RGD

NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534

G

CD40 ligand

RGD

NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306

G

Cd80 molecule

RGD

NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030

G

complement factor B

RGD

NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505

G

clusterin

protein:increased expression:urine

RGD

NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315

G

colony stimulating factor 1

treatment

RGD

NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704

G

colony stimulating factor 1 receptor

treatment
ameliorates

RGD

PMID:19242505 PMID:21519331

RGD:7257569, RGD:151665824

NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415

G

cytotoxic T-lymphocyte-associated protein 4

treatment

RGD

PMID:10712436 PMID:8206086 PMID:10712436

RGD:6902936, RGD:11352257, RGD:6902936

NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963

G

C-X3-C motif chemokine ligand 1

mRNA, protein:increased expression:glomerulus

RGD

NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833

G

C-X3-C motif chemokine receptor 1

mRNA, protein:increased expression:glomerulus

RGD

NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014

G

C-X-C motif chemokine ligand 12

mRNA:increased expression:glomerulus

RGD

NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168

G

dual specificity phosphatase 1

mRNA:increased expression:glomerulus

RGD

NCBI chr10:16,680,478...16,683,275

G

Fc gamma receptor 3A

no_association

DNA:cnv: :
DNA:polymorphism:exon:(rs396991)(human)

RGD

PMID:19946017 PMID:19640933

RGD:5508400, RGD:5508403

NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921

G

glycoprotein VI

RGD

NCBI chr 1:69,429,232...69,492,709
Ensembl chr 1:69,465,789...69,491,326

G

interleukin 10

treatment

RGD

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 17A

treatment

RGD

NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889

G

interleukin 18

RGD

NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887

G

interleukin 1 beta

mRNA:increased expression:kidney (mouse)
mRNA, protein:increased expression:kidney

RGD

PMID:22046355 PMID:9198037

RGD:6893447, RGD:7401232

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 1 receptor antagonist

RGD

NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445

G

interleukin 4

RGD

PMID:9350645 PMID:17898087

RGD:2317673, RGD:2307059

NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750

G

integrin subunit alpha 4

treatment

RGD

PMID:9032136 PMID:7679412

RGD:2308810, RGD:9698425

NCBI chr 3:64,162,764...64,235,010
Ensembl chr 3:64,163,085...64,233,715

G

mitogen activated protein kinase 14

RGD

NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589

G

mitogen-activated protein kinase 8

RGD

NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981

G

macrophage migration inhibitory factor

RGD

NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504

G

matrix metallopeptidase 12

RGD

NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611

G

matrix metallopeptidase 14

mRNA:increased expression:kidney, macrophage

RGD

NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864

G

nitric oxide synthase 2

RGD

NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210

G

natriuretic peptide B

RGD

NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168

G

programmed cell death 1

treatment

RGD

NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937

G

platelet factor 4

treatment

RGD

NCBI chr14:17,298,304...17,299,220
Ensembl chr14:17,298,308...17,299,365

G

peroxisome proliferator activated receptor alpha

RGD

NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346

G

protein tyrosine kinase 2 beta

protein:increased expression:glomerulus

RGD

NCBI chr15:40,360,722...40,481,235
Ensembl chr15:40,360,723...40,481,282

G

Rap guanine nucleotide exchange factor 1

protein:increased expression:renal glomerulus

RGD

NCBI chr 3:12,898,349...13,016,234
Ensembl chr 3:12,898,266...13,013,984

G

RT1 class II, locus Db1

susceptibility

DNA:polymorphism (human)

RGD

NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258

G

RT1 class II, locus Hb, pseudogene 1

NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618

G

selectin P

RGD

NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845

G

solute carrier family 34 member 1

protein:decreased expression:kidney, brush border membrane (mouse)

RGD

NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852

G

slit guidance ligand 2

mRNA:decreased expression:kidney, glomerulus

RGD

NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948

G

secreted phosphoprotein 1

RGD

NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162

G

spleen associated tyrosine kinase

RGD

NCBI chr17:12,604,615...12,678,437
Ensembl chr17:12,604,619...12,661,410

G

tumor necrosis factor

RGD

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

vascular cell adhesion molecule 1

protein:increased expression:urine, serum:

RGD

NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958

G

X-C motif chemokine ligand 1

mRNA:increased expression:glomerulus

RGD

NCBI chr13:77,248,687...77,252,343
Ensembl chr13:77,248,717...77,252,329

C1q Deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement C1q A chain

ClinVar Annotator: match by term: C1Q deficiency

PMID:7594474 PMID:8840296 PMID:9225968 PMID:9590289 PMID:21654842 More...

NCBI chr 5:149,133,635...149,136,482
Ensembl chr 5:149,133,636...149,136,534

G

complement C1q B chain

ClinVar Annotator: match by term: C1Q deficiency

PMID:17513176 PMID:21654842 PMID:25741868 PMID:28492532

NCBI chr 5:149,118,843...149,124,394
Ensembl chr 5:149,118,846...149,124,407

G

complement C1q C chain

ClinVar Annotator: match by term: C1Q deficiency

PMID:7029321 PMID:7900940 PMID:8630118 PMID:20635792 PMID:21654842 More...

NCBI chr 5:149,127,412...149,130,757
Ensembl chr 5:149,127,415...149,131,017

C1q Deficiency 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement C1q A chain

ClinVar Annotator: match by term: C1Q deficiency 1
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

NCBI chr 5:149,133,635...149,136,482
Ensembl chr 5:149,133,636...149,136,534

C1q Deficiency 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement C1q B chain

ClinVar Annotator: match by term: C1Q deficiency 2

PMID:2894352 PMID:24160257 PMID:25741868

NCBI chr 5:149,118,843...149,124,394
Ensembl chr 5:149,118,846...149,124,407

C1q Deficiency 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement C1q C chain

ClinVar Annotator: match by term: C1Q deficiency 3

PMID:7029321 PMID:8630118 PMID:24157463 PMID:28492532

NCBI chr 5:149,127,412...149,130,757
Ensembl chr 5:149,127,415...149,131,017

C3 Glomerulopathy 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement factor H

ClinVar Annotator: match by term: C3 GLOMERULOPATHY 3 | ClinVar Annotator: match by term: CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II

PMID:8072530 PMID:9536098 PMID:11158219 PMID:11978762 PMID:12424708 More...

NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838

Chronic Mesangial Proliferative Glomerulonephritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-X3-C motif chemokine ligand 1

RGD

NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833

G

C-X3-C motif chemokine receptor 1

RGD

NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014

crescentic glomerulonephritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine ligand 2

treatment

RGD

PMID:8903512 PMID:17314328

RGD:8549743, RGD:8549770

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

C-C motif chemokine ligand 3

associated with Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis

RGD

PMID:18846416 PMID:17898087

RGD:7241813, RGD:2307059

NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938

G

CD40 molecule

RGD

NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534

G

CD40 ligand

treatment

RGD

NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306

G

colony stimulating factor 1 receptor

treatment

RGD

NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415

G

Fc gamma receptor 2A

DNA:CNV:3'UTR:

RGD

NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967

G

interleukin 1 beta

RGD

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 1 receptor antagonist

treatment

human protein in a rat model

RGD

NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445

G

JunD proto-oncogene, AP-1 transcription factor subunit

RGD

NCBI chr16:18,734,121...18,735,799
Ensembl chr16:18,734,122...18,735,799

G

matrix metallopeptidase 12

RGD

PMID:20488952 PMID:12626598

RGD:2325762, RGD:737630

NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611

G

matrix metallopeptidase 3

RGD

NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961

G

matrix metallopeptidase 9

protein:increased expression:renal cortex (rat)

RGD

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

mechanistic target of rapamycin kinase

RGD

NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311

G

signal transducer and activator of transcription 6

RGD

NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495

G

toll-like receptor 9

severity

RGD

NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796

focal segmental glomerulosclerosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin converting enzyme 2

CTD Direct Evidence: marker/mechanism

NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977

G

actin alpha 2, smooth muscle

CTD Direct Evidence: marker/mechanism

NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554

G

actinin alpha 4

susceptibility

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:16251236 PMID:18594871 PMID:19142020 PMID:19956976 PMID:21680739 More...

NCBI chr 1:84,182,783...84,251,867
Ensembl chr 1:84,182,788...84,251,847

G

actin related protein 3

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

G

angiotensinogen

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:19858406 PMID:21357516

NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977

G

angiotensin II receptor, type 1a

protein:increased expression:kidney cortex

RGD

NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946

G

angiotensin II receptor, type 2

protein:increased expression:kidney cortex

RGD

NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057

G

angiopoietin 2

mRNA, protein:increased expression:glomerulus (rat)

RGD

NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804

G

anillin, actin binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr 8:20,858,227...20,921,602
Ensembl chr 8:20,858,228...20,921,538

G

Rho GTPase activating protein 24

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

NCBI chr14:6,800,624...7,183,877
Ensembl chr14:6,800,631...7,183,823

G

axonemal dynein light chain domain containing 1

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:8589695 PMID:10742096 PMID:11805166 PMID:15253708 PMID:15327385 More...

NCBI chr13:68,471,957...68,544,788
Ensembl chr13:68,458,411...68,544,172

G

bradykinin receptor B1

RGD

NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747

G

complement C2

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 More...

NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505

G

complement C3

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:1976733 PMID:7870343 PMID:16687714 PMID:17634448 PMID:17767156 More...

NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429

G

caspase 9

treatment

RGD

NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626

G

catalase

RGD

NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478

G

C-C motif chemokine ligand 11

treatment

RGD

NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926

G

C-C motif chemokine ligand 3

RGD

NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938

G

cellular communication network factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734

G

CD2-associated protein

FSGS3, OMIM:607832, DNA:splice-site mutaton
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:25741868 PMID:28492532 PMID:12764198

NCBI chr 9:18,086,744...18,182,744
Ensembl chr 9:18,086,984...18,182,199

G

complement factor B

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 More...

NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505

G

complement factor H

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:8072530 PMID:15870199 PMID:16299065 PMID:17089378 PMID:17947292 More...

NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838

G

complement factor I

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:18825487 PMID:25741868 PMID:28492532

NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561

G

cytidine monophosphate N-acetylneuraminic acid synthetase

NCBI chr 4:175,718,808...175,737,128
Ensembl chr 4:175,718,808...175,737,125

G

collagen type IV alpha 1 chain

CTD Direct Evidence: marker/mechanism

PMID:16191423 PMID:18682491

NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412

G

collagen type IV alpha 3 chain

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:14871398 PMID:17216251 PMID:18385178 PMID:24033266 PMID:24854265 More...

NCBI chr 9:83,875,849...84,004,955
Ensembl chr 9:83,875,561...84,001,895

G

collagen type IV alpha 4 chain

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:12028435 PMID:15618242 PMID:17396119 PMID:19129241 PMID:20029656 More...

NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876

G

collagen type IV alpha 5 chain

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:8648925 PMID:9195222 PMID:10561141 PMID:10752524 PMID:14514738 More...

NCBI chr X:105,118,762...105,322,699
Ensembl chr X:105,118,820...105,322,692

G

coenzyme Q2, polyprenyltransferase

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr14:8,941,429...8,961,418
Ensembl chr14:8,941,461...8,960,891

G

coenzyme Q8B

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

NCBI chr 1:82,525,578...82,549,182
Ensembl chr 1:82,526,568...82,549,180

G

crumbs cell polarity complex component 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:21,542,138...21,564,876
Ensembl chr 3:21,542,221...21,563,294

G

endothelin 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885

G

EYA transcriptional coactivator and phosphatase 1

ClinVar Annotator: match by term: Glomerulosclerosis, focal

PMID:10991693 PMID:24033266 PMID:25741868 PMID:31049720

NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483

G

fibronectin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678

G

G protein subunit alpha q

CTD Direct Evidence: marker/mechanism

NCBI chr 1:213,425,631...213,671,947
Ensembl chr 1:213,424,465...213,667,672

G

hepatitis A virus cellular receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698

G

HR, lysine demethylase and nuclear receptor corepressor

RGD

NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313

G

heat shock protein family B (small) member 1

protein:increased expression:glomerulus, podocyte:

RGD

NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743

G

interleukin 1 beta

RGD

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

inverted formin 2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:20023659 PMID:21866090 PMID:25741868 PMID:26467025 PMID:28492532 More...

NCBI chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941

G

integrin subunit beta 3

RGD

NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679

G

kirre like nephrin family adhesion molecule 2

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:19406966 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr 1:85,708,793...85,718,670
Ensembl chr 1:85,708,793...85,718,670

G

laminin subunit beta 2

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal

PMID:20556798 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549

G

lipase C, hepatic type

protein:reduced expression:serum (rat)

RGD

NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464

G

LIM homeobox transcription factor 1 beta

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:25741868 PMID:28492532

NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899

G

lipoprotein lipase

RGD

NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249

G

microRNA 193a

NCBI chr10:64,672,343...64,672,454
Ensembl chr10:64,672,343...64,672,454

G

matrix metallopeptidase 2

mRNA, protein:increased expression, increased activity:kidney

RGD

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

matrix metallopeptidase 9

mRNA, protein:increased expression, increased activity:kidney

RGD

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

mitochondrial inner membrane protein MPV17

CTD Direct Evidence: marker/mechanism

NCBI chr 6:25,221,668...25,236,241
Ensembl chr 6:25,222,896...25,236,244

G

myosin heavy chain 10

CTD Direct Evidence: marker/mechanism

NCBI chr10:53,393,901...53,525,174
Ensembl chr10:53,394,389...53,525,165

G

myosin heavy chain 6

ClinVar Annotator: match by term: Hyalinosis, Segmental Glomerular

PMID:24033266 PMID:28492532 PMID:30976395

NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720

G

myosin, heavy chain 9

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:18794856 PMID:19557653 PMID:23144074 PMID:24033266 PMID:25741868 More...

NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457

G

myosin IE

CTD Direct Evidence: marker/mechanism

NCBI chr 8:70,887,934...71,080,180
Ensembl chr 8:70,887,870...71,080,169

G

myosin IXA

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

MouseDO
ClinVar

PMID:25741868 PMID:33412162

NCBI chr 8:60,149,234...60,352,330
Ensembl chr 8:60,149,234...60,350,514

G

NLR family, pyrin domain containing 3

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:12522564 PMID:17509468 PMID:18263599 PMID:18311798 PMID:19319132 More...

NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811

G

NOC3-like DNA replication regulator

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

NCBI chr 1:236,556,037...236,585,372
Ensembl chr 1:236,556,789...236,585,318

G

nitric oxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210

G

nephrocystin 1

ClinVar Annotator: match by term: Glomerulosclerosis, focal

PMID:25741868 PMID:28492532

NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234

G

nephrocystin 3

ClinVar Annotator: match by term: Glomerulosclerosis, focal

PMID:25741868 PMID:28492532

NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383

G

nephrocystin 4

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:25741868 PMID:28492532

NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706

G

NPHS1 adhesion molecule, nephrin

disease_progression

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

G

NPHS2 stomatin family member, podocin

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:1523708 PMID:8589695 PMID:10742096 PMID:11805166 PMID:11805168 More...

NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313

G

nucleoporin 93

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

NCBI chr19:10,684,214...10,788,009
Ensembl chr19:10,682,075...10,788,026

G

nuclear RNA export factor 7

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

NCBI chr X:98,535,374...98,552,562
Ensembl chr X:98,535,375...98,552,526

G

paired box 2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

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

G

proliferating cell nuclear antigen

CTD Direct Evidence: marker/mechanism

NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995

G

decaprenyl diphosphate synthase subunit 2

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:25741868 PMID:28492532

NCBI chr20:46,709,631...46,938,704
Ensembl chr20:46,709,649...46,938,708

G

protein inhibitor of activated STAT, 1

RGD

NCBI chr 8:63,338,150...63,451,670
Ensembl chr 8:63,338,150...63,438,905

G

phospholipase C, epsilon 1

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal

PMID:18975016 PMID:20507940 PMID:25060053 PMID:25741868 PMID:26467025 More...

NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438

G

protein phosphatase 3 catalytic subunit alpha

RGD

NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974

G

protein phosphatase 3 catalytic subunit beta

RGD

NCBI chr15:3,759,950...3,804,976
Ensembl chr15:3,760,030...3,804,981

G

Rap1 GTPase-activating protein

mRNA:increased expression:renal glomerulus (human)

RGD

NCBI chr 5:149,873,987...149,939,254
Ensembl chr 5:149,892,019...149,939,253

G

regenerating family member 1 alpha

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

NCBI chr 4:110,892,451...110,895,115
Ensembl chr 4:110,892,453...110,895,570

G

Rpgrip1-like

ClinVar Annotator: match by term: Glomerulosclerosis, focal

PMID:19430481 PMID:20301500 PMID:25741868 PMID:28492532

NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083

G

scavenger receptor class B, member 2

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal

PMID:25088547 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr14:15,558,271...15,609,813
Ensembl chr14:15,558,236...15,609,813

G

SHH signaling and ciliogenesis regulator SDCCAG8

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111

G

serpin family E member 1

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:18682491 PMID:22303720

NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657

G

sonic hedgehog signaling molecule

RGD

NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170

G

solute carrier family 17 member 5

ClinVar Annotator: match by term: Glomerulosclerosis, focal

PMID:25741868 PMID:28492532 PMID:29140481

NCBI chr 8:79,394,416...79,429,387

G

Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal

PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More...

NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146

G

secreted phosphoprotein 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162

G

SLIT-ROBO Rho GTPase activating protein 1

NCBI chr 7:57,329,532...57,594,681
Ensembl chr 7:57,329,532...57,596,196

G

transforming growth factor, beta 1

CTD Direct Evidence: marker/mechanism

PMID:16191423 PMID:18682491 PMID:20493835

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

transmembrane protein 63c

protein:decreased expression:kidney,renal glomerulus (human)

RGD

NCBI chr 6:106,667,389...106,738,778
Ensembl chr 6:106,672,934...106,736,990

G

tumor necrosis factor

protein:increased expression:serum

RGD

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

TNF alpha induced protein 2

NCBI chr 6:130,476,832...130,489,914
Ensembl chr 6:130,476,889...130,489,914

G

TNF receptor superfamily member 1A

protein:increased expression:serum

RGD

NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591

G

TNF receptor superfamily member 1B

protein:increased expression:serum

RGD

NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206

G

transient receptor potential cation channel, subfamily C, member 6

treatment

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal
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:19936226 PMID:22980509 PMID:25019165 PMID:25741868 PMID:26467025 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

G

very low density lipoprotein receptor

protein:decreased expression:adipose tissue, skeletal muscle (rat)

RGD

NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920

G

von Willebrand factor

RGD

NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539

G

WT1 transcription factor

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:7795587 PMID:8388765 PMID:9108089 PMID:9531607 PMID:10571943 More...

NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643

G

zinc metallopeptidase STE24

CTD Direct Evidence: marker/mechanism

NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110

focal segmental glomerulosclerosis 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

treatment

RGD

NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131

G

actinin alpha 4

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1
OMIM:603278

OMIM
ClinVar
MouseDO

PMID:10700177 PMID:16251236 PMID:18594871 PMID:19142020 PMID:19956976 More...

NCBI chr 1:84,182,783...84,251,867
Ensembl chr 1:84,182,788...84,251,847

G

Rho GTPase activating protein 24

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1

NCBI chr14:6,800,624...7,183,877
Ensembl chr14:6,800,631...7,183,823

G

complement C2

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 More...

NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505

G

complement C3

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

PMID:1976733 PMID:17634448 PMID:18325906 PMID:19168221 PMID:25741868 More...

NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429

G

complement factor B

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 More...

NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505

G

complement factor I

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

PMID:18825487 PMID:25741868 PMID:28492532

NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561

G

EYA transcriptional coactivator and phosphatase 1

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

PMID:10991693 PMID:24033266 PMID:25741868 PMID:31049720

NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483

G

laminin subunit beta 2

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

PMID:20556798 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549

G

myosin, heavy chain 9

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

PMID:19557653 PMID:23144074 PMID:24033266 PMID:25741868 PMID:26346198 More...

NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457

G

NLR family, pyrin domain containing 3

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

PMID:12522564 PMID:17509468 PMID:18263599 PMID:18311798 PMID:19319132 More...

NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811

G

nephrocystin 1

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

PMID:25741868 PMID:28492532

NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234

G

nephrocystin 3

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

PMID:25741868 PMID:28492532

NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383

G

nucleoporin 107

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1

NCBI chr 7:53,353,740...53,398,345
Ensembl chr 7:53,353,743...53,398,370

G

paired box 2

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

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

G

phospholipase C, epsilon 1

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

PMID:25741868 PMID:28492532

NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438

G

Rpgrip1-like

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

PMID:19430481 PMID:20301500 PMID:25741868 PMID:28492532

NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083

G

scavenger receptor class B, member 2

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr14:15,558,271...15,609,813
Ensembl chr14:15,558,236...15,609,813

G

solute carrier family 17 member 5

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

PMID:25741868 PMID:28492532 PMID:29140481

NCBI chr 8:79,394,416...79,429,387

G

Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More...

NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146

G

transient receptor potential cation channel, subfamily C, member 6

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

PMID:25741868 PMID:28492532

NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092

focal segmental glomerulosclerosis 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transient receptor potential cation channel, subfamily C, member 6

OMIM:603965
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 2 | ClinVar Annotator: match by term: TRPC6-related condition
CTD Direct Evidence: marker/mechanism

OMIM
MouseDO
ClinVar
CTD

PMID:2298509 PMID:10200986 PMID:15879175 PMID:15924139 PMID:16932363 More...

NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092

focal segmental glomerulosclerosis 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD2-associated protein

ClinVar Annotator: match by term: CD2AP-related condition | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 3, susceptibility to
OMIM:607832

OMIM
ClinVar
MouseDO

PMID:10514378 PMID:12764198 PMID:17713465 PMID:18443213 PMID:19131354 More...

NCBI chr 9:18,086,744...18,182,744
Ensembl chr 9:18,086,984...18,182,199

focal segmental glomerulosclerosis 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenylosuccinate synthase 1

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5

NCBI chr 6:131,679,795...131,702,012
Ensembl chr 6:131,679,701...131,701,998

G

AHNAK nucleoprotein 2

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5

NCBI chr 6:131,830,668...131,876,311

G

AKT serine/threonine kinase 1

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5

NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921

G

BRF1, RNA polymerase III transcription initiation factor subunit

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5

NCBI chr 6:132,034,378...132,081,313
Ensembl chr 6:132,037,272...132,081,278

G

BTB domain containing 6

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5

NCBI chr 6:132,058,094...132,060,603
Ensembl chr 6:132,058,096...132,060,587

G

cell division cycle associated 4

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5

NCBI chr 6:131,892,305...131,901,571
Ensembl chr 6:131,892,087...131,901,564

G

centrosomal protein 170B

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5

NCBI chr 6:131,780,935...131,806,658
Ensembl chr 6:131,778,957...131,806,658

G

clathrin binding box of aftiphilin containing 1

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5

NCBI chr 6:131,882,866...131,889,662
Ensembl chr 6:131,882,609...131,889,662

G

G protein-coupled receptor 132

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5

NCBI chr 6:131,924,061...131,943,327
Ensembl chr 6:131,924,160...131,942,168

G

inverted formin 2

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 | ClinVar Annotator: match by term: INF2-related condition
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:6054293 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20023659 More...

NCBI chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941

G

jagged canonical Notch ligand 2

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5

NCBI chr 6:131,983,059...132,005,665
Ensembl chr 6:131,983,056...132,005,818

G

nudix hydrolase 14

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5

NCBI chr 6:132,010,309...132,017,298
Ensembl chr 6:132,010,297...132,017,298

G

phosphofurin acidic cluster sorting protein 2

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5

NCBI chr 6:132,096,992...132,156,702
Ensembl chr 6:132,096,901...132,154,583

G

phospholipase D family, member 4

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5

NCBI chr 6:131,818,860...131,827,457
Ensembl chr 6:131,818,860...131,826,376

G

SIVA1, apoptosis-inducing factor

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5

NCBI chr 6:131,705,323...131,709,697
Ensembl chr 6:131,705,323...131,709,690

G

zinc finger and BTB domain containing 42

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5

NCBI chr 6:131,734,257...131,742,459
Ensembl chr 6:131,738,356...131,742,685

focal segmental glomerulosclerosis 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lactate dehydrogenase A-like 6B

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6

NCBI chr 1:45,997,845...45,999,268
Ensembl chr 1:45,991,991...45,999,272

G

myosin IE

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 | ClinVar Annotator: match by term: MYO1E-related condition

PMID:9536098 PMID:17576681 PMID:21756023 PMID:25741868 PMID:28492532 More...

NCBI chr 8:70,887,934...71,080,180
Ensembl chr 8:70,887,870...71,080,169

focal segmental glomerulosclerosis 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

paired box 2

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 7

PMID:3377002 PMID:8589702 PMID:9106533 PMID:10466411 PMID:10533062 More...

NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321

focal segmental glomerulosclerosis 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

anillin, actin binding protein

ClinVar Annotator: match by term: ANLN-related condition | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 8

PMID:24676636 PMID:25741868 PMID:28492532 PMID:29869118

NCBI chr 8:20,858,227...20,921,602
Ensembl chr 8:20,858,228...20,921,538

G

synaptopodin

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 8

PMID:25741868 PMID:33615071

NCBI chr18:54,048,299...54,106,388
Ensembl chr18:54,026,152...54,102,126

focal segmental glomerulosclerosis 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

crumbs cell polarity complex component 2

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 9

PMID:25557779 PMID:25741868 PMID:27004616 PMID:27942854 PMID:28492532 More...

NCBI chr 3:21,542,138...21,564,876
Ensembl chr 3:21,542,221...21,563,294

Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tripartite motif-containing 8

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis and neurodevelopmental syndrome | ClinVar Annotator: match by term: TRIM8-related condition

PMID:25741868 PMID:27346735 PMID:28492532 PMID:29758562 PMID:30244534 More...

NCBI chr 1:245,369,632...245,384,513
Ensembl chr 1:245,369,632...245,384,513

Glomerular Hyperfiltration

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

serine and arginine rich splicing factor 7

mRNA:increased expression:kidney (mouse)

RGD

NCBI chr 6:14,811,775...14,818,968
Ensembl chr 6:14,811,808...14,818,965

glomerulonephritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

RGD

NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131

G

adrenomedullin

associated with Anti-Glomerular Basement Membrane Disease
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:15063164 PMID:15680492 PMID:16735801 PMID:20431304

RGD:1625317, RGD:2325320

NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654

G

angiotensinogen

disease_progression

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:11459117 PMID:15888567

NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977

G

angiotensin II receptor, type 2

RGD

NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057

G

allograft inflammatory factor 1

protein:increased expression:kidney (rat)

RGD

NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668

G

albumin

CTD Direct Evidence: marker/mechanism

PMID:3160244 PMID:6343549 PMID:6769622 PMID:8501856 PMID:17161813 More...

NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836

G

arachidonate 15-lipoxygenase

RGD

NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874

G

arachidonate 5-lipoxygenase activating protein

onset

protein:increased expression:glomerulus, endothelial cell, cytoplasm (rat)

RGD

NCBI chr12:5,748,941...5,772,986
Ensembl chr12:5,748,944...5,772,986

G

annexin A5

RGD

NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369

G

apolipoprotein E

Apoe(-/-) Id3(-/-) double knockout

RGD

NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932

G

Axl receptor tyrosine kinase

RGD

NCBI chr 1:81,265,088...81,296,278
Ensembl chr 1:81,265,088...81,296,265

G

Bcl2-like 11

RGD

NCBI chr 3:115,366,783...115,404,068
Ensembl chr 3:115,366,646...115,404,068

G

bradykinin receptor B1

RGD

NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747

G

complement C1q A chain

susceptibility

DNA:nonsense mutation (human)

RGD

NCBI chr 5:149,133,635...149,136,482
Ensembl chr 5:149,133,636...149,136,534

G

complement C3

RGD

NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429

G

complement C6

RGD

NCBI chr 2:53,846,028...53,921,279
Ensembl chr 2:53,851,985...53,921,275

G

C-C motif chemokine ligand 1

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:10385480 PMID:11157384

NCBI chr10:67,128,331...67,131,109
Ensembl chr10:67,128,331...67,131,159

G

C-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

C-C motif chemokine ligand 3

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:10385480 PMID:18941245

NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938

G

C-C motif chemokine ligand 4

CTD Direct Evidence: marker/mechanism

NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231

G

C-C motif chemokine ligand 5

CTD Direct Evidence: marker/mechanism

NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377

G

C-C motif chemokine ligand 7

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:10385480 PMID:11157384

NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303

G

CD163 molecule

associated with liver disease;protein:increased expression:blood serum (human)

RGD

NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878

G

CD59b molecule

RGD

NCBI chr 3:90,459,085...90,477,571
Ensembl chr 3:90,459,162...90,478,847

G

complement factor D

CTD Direct Evidence: marker/mechanism

NCBI chr 7:9,813,148...9,814,871
Ensembl chr 7:9,813,150...9,815,053

G

complement factor H

RGD

NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838

G

complement factor I

NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561

G

carnosine dipeptidase 1

RGD

NCBI chr18:77,984,886...78,030,837
Ensembl chr18:77,984,907...78,007,765

G

collagen type IV alpha 3 chain

RGD

NCBI chr 9:83,875,849...84,004,955
Ensembl chr 9:83,875,561...84,001,895

G

collagen type IV alpha 4 chain

ClinVar Annotator: match by term: Glomerulonephritis

PMID:12325029 PMID:17216251 PMID:20301386 PMID:21196518 PMID:24052634 More...

NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876

G

carboxypeptidase B2

RGD

NCBI chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556

G

colony stimulating factor 1

RGD

NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704

G

C-X3-C motif chemokine ligand 1

mRNA, protein:increased expression:glomerulus, urine

RGD

NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833

G

C-X3-C motif chemokine receptor 1

mRNA:increased expression:glomerulus

RGD

PMID:10432400 PMID:14605272

RGD:4892027, RGD:4891995

NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014

G

C-X-C motif chemokine receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969

G

desmin

CTD Direct Evidence: marker/mechanism

NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699

G

elastase, neutrophil expressed

RGD

NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100

G

E1A binding protein p300

protein:increased expression:glomerulus, renal tubule (human)

RGD

NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088

G

estrogen receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002

G

coagulation factor II, thrombin

protein:increased expression;urine

RGD

PMID:17519558 PMID:15164604

RGD:6893586, RGD:6893593

NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486

G

Fas cell surface death receptor

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:21880982 PMID:36999444 PMID:9466307

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

G

fibrillin 1

mRNA:increased expression:renal cortex, renal glomerulus (rat)
mRNA, protein:increased expression:renal glomerulus (rat)

RGD

PMID:16395273 PMID:16282705

RGD:7365077, RGD:7387262

NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889

G

Fc gamma receptor 2A

RGD

NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967

G

Fc gamma receptor 2B

RGD

NCBI chr13:83,191,253...83,207,778
Ensembl chr13:83,193,163...83,207,778

G

Fc gamma receptor 3A

susceptibility

associated with Lupus Erythematosus, Systemic;DNA:SNP:cds:p.V158F (human)

RGD

PMID:19050295 PMID:17596285

RGD:5508439, RGD:5508454

NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921

G

fibronectin 1

disease_progression

RGD

NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678

G

Fos proto-oncogene, AP-1 transcription factor subunit

treatment

RGD

PMID:11880336 PMID:31821871

RGD:7242278, RGD:405650596

NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036

G

growth arrest specific 6

RGD

NCBI chr16:76,045,430...76,075,904
Ensembl chr16:76,045,426...76,075,904

G

gap junction protein, alpha 5

RGD

NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952

G

interferon gamma

CTD Direct Evidence: marker/mechanism
associated with kidney transplantation;mRNA:increased expression:kidney

CTD
RGD

PMID:1825860 PMID:22495297 PMID:21546865

RGD:6893377, RGD:6893462

NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375

G

interleukin 10

CTD Direct Evidence: marker/mechanism

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 18

CTD Direct Evidence: therapeutic

NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887

G

interleukin 1 alpha

associated with Malaria

RGD

NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

PMID:9403216 PMID:10910440

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 1 receptor type 1

RGD

NCBI chr 9:42,504,917...42,580,958
Ensembl chr 9:42,504,735...42,579,937

G

interleukin 1 receptor antagonist

mouse model treated with human protein
mRNA:increased expression:kidney (mouse)

RGD

PMID:22241891 PMID:21304992

RGD:6906885, RGD:6906960

NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445

G

interleukin 2

CTD Direct Evidence: marker/mechanism

PMID:9403216 PMID:10910440

NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566

G

interleukin 2 receptor subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

inverted formin 2

ClinVar Annotator: match by term: Glomerulonephritis

PMID:25741868 PMID:28492532

NCBI chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941

G

integrin subunit alpha 3

protein:decreased expression:glomerulus (rat)

RGD

NCBI chr10:79,990,160...80,022,206
Ensembl chr10:79,990,161...80,022,118

G

integrin subunit alpha M

RGD

NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503

G

integrin subunit beta 1

protein:decreased expression:glomerulus (rat)

RGD

NCBI chr19:56,705,123...56,753,199
Ensembl chr19:56,705,171...56,753,195

G

integrin subunit beta 2

RGD

PMID:19752320 PMID:15277234

RGD:6907051, RGD:6907066

NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600

G

integrin subunit beta 3

RGD

PMID:11051455 PMID:8083378

RGD:6907411, RGD:6907420

NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679

G

JunD proto-oncogene, AP-1 transcription factor subunit

CTD Direct Evidence: marker/mechanism

NCBI chr16:18,734,121...18,735,799
Ensembl chr16:18,734,122...18,735,799

G

kallikrein B1

protein:increased expression:plasma:

RGD

NCBI chr16:46,958,634...46,982,054
Ensembl chr16:46,958,707...46,982,053

G

laminin subunit beta 2

ClinVar Annotator: match by term: Glomerulonephritis

PMID:25741868 PMID:28492532

NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549

G

latent transforming growth factor beta binding protein 1

RGD

NCBI chr 6:20,029,629...20,425,339
Ensembl chr 6:20,029,629...20,425,349

G

leukotriene C4 synthase

protein:altered activity:kidney, cortex (rat)

RGD

NCBI chr10:34,560,476...34,562,790
Ensembl chr10:34,560,360...34,562,651

G

mitogen activated protein kinase 1

RGD

NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616

G

microRNA 100

CTD Direct Evidence: marker/mechanism

NCBI chr 8:41,901,225...41,901,304
Ensembl chr 8:41,901,225...41,901,304

G

microRNA 10b

CTD Direct Evidence: marker/mechanism

NCBI chr 3:59,628,438...59,628,546
Ensembl chr 3:59,628,438...59,628,546

G

matrix metallopeptidase 3

RGD

PMID:15034162 PMID:23224597

RGD:7241253, RGD:8694105

NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961

G

myeloperoxidase

disease_progression

RGD

PMID:17267745 PMID:19238910

RGD:7174702, RGD:7174705

NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819

G

membrane spanning 4-domains A1

protein:increased expression:kidney, glomerulus (rat)

RGD

NCBI chr 1:207,906,370...207,927,028
Ensembl chr 1:207,906,374...207,918,512

G

methylenetetrahydrofolate reductase

DNA:transition:cds:g.677C>T (human)

RGD

NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797

G

myosin, heavy chain 9

ClinVar Annotator: match by term: Glomerulonephritis

PMID:25741868 PMID:28492532

NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457

G

nerve growth factor

protein:increased expression:serum
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:24244623 PMID:19169037

NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452

G

natriuretic peptide A

associated with Streptococcal Infections;protein:increased expression:plasma

RGD

NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351

G

poly (ADP-ribose) polymerase 1

severity

RGD

NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404

G

platelet derived growth factor subunit B

treatment

RGD

NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984

G

platelet derived growth factor D

RGD

NCBI chr 8:3,488,448...3,722,395
Ensembl chr 8:3,488,423...3,722,395

G

phospholipase A2 group VII

RGD

NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476

G

phospholipase C, epsilon 1

ClinVar Annotator: match by term: Glomerulonephritis

NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438

G

proopiomelanocortin

CTD Direct Evidence: marker/mechanism

PMID:4368615 PMID:6300362

NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664

G

peroxisome proliferator-activated receptor gamma

CTD Direct Evidence: therapeutic

NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468

G

perforin 1

RGD

NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701

G

platelet-activating factor receptor

treatment

RGD

NCBI chr 5:144,765,770...144,795,057
Ensembl chr 5:144,765,976...144,795,251

G

protein tyrosine kinase 2 beta

protein:increased expression:glomerulus

RGD

NCBI chr15:40,360,722...40,481,235
Ensembl chr15:40,360,723...40,481,282

G

secretoglobin family 1A member 1

recombinant human SCGB1A1 in "experimental crescentic glomerulonephritis" model (mice)

RGD

NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610

G

serpin family E member 1

treatment

RGD

NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657

G

SMAD family member 1

protein:increased phosphorylation:glomerulus

RGD

NCBI chr19:28,513,130...28,573,665
Ensembl chr19:28,513,131...28,573,651

G

secreted phosphoprotein 1

disease_progression

RGD

NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162

G

thromboxane A synthase 1

RGD

NCBI chr 4:67,664,963...67,837,096
Ensembl chr 4:67,665,007...67,837,096

G

transferrin

severity

RGD

NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511

G

toll-like receptor 2

RGD

NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630

G

toll-like receptor 4

RGD

PMID:20844472 PMID:16849506

RGD:4144104, RGD:7241071

NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

PMID:9403216 PMID:10910440

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

TNF receptor superfamily member 1A

disease_progression
treatment

protein:increased expression:urine

RGD

PMID:20525973 PMID:23400706

RGD:7245516, RGD:7245540

NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591

G

TNF receptor superfamily member 1B

treatment

RGD

PMID:15841213 PMID:22449555 PMID:23400706

RGD:7245530, RGD:7245546, RGD:7245540

NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206

G

thyroid peroxidase

RGD

NCBI chr 6:46,698,402...46,768,199
Ensembl chr 6:46,698,414...46,768,199

G

vascular cell adhesion molecule 1

protein:increased expression:kidney

RGD

NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958

G

vascular endothelial growth factor A

treatment

RGD

NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641

G

WT1 transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643

Glomerulonephritis with Isolated C3 Deposits and Factor H Deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement factor H

DNA:SNPs,Haplotype::

RGD

PMID:17517971 PMID:17517971

RGD:7364995, RGD:7364995

NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838

Glomerulopathy with Giant Fibrillar Deposits

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase

ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2

PMID:25741868 PMID:28492532

NCBI chr 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889

G

fibronectin 1

ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:1544672 PMID:7747733 PMID:9536098 PMID:12042895 PMID:17576681 More...

NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678

G

inverted formin 2

ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2

NCBI chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941

glomerulosclerosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

treatment

RGD

NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131

G

advanced glycosylation end product-specific receptor

treatment

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

G

angiotensin II receptor, type 1a

mRNA:decreased expression:kidney

RGD

NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946

G

angiotensin II receptor, type 2

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:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057

G

apolipoprotein E

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

G

collagen type III alpha 1 chain

RGD

NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547

G

estrogen receptor 2

susceptibility

protein:decreased expression:renal glomerulus (mouse)

RGD

NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919

G

fibrillin 1

associated with Hypertension

RGD

NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889

G

heparin-binding EGF-like growth factor

induced

RGD

NCBI chr18:28,106,284...28,116,167
Ensembl chr18:28,105,760...28,116,441

G

interleukin 1 beta

associated with Hypertension

RGD

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

matrix metallopeptidase 1

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

G

matrix metallopeptidase 9

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

G

NPHS1 adhesion molecule, nephrin

treatment

RGD

NCBI chr 1:85,720,812...85,749,079
Ensembl chr 1:85,720,812...85,749,078

G

phospholipase A2 group VII

RGD

NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476

G

pleckstrin homology domain containing A7

ameliorates

compared to wild type

RGD

PMID:25136115 PMID:25136115

RGD:11079199, RGD:11079199

NCBI chr 1:170,364,524...170,547,843
Ensembl chr 1:170,365,135...170,547,775

G

Plekha7^em4Mcwi

pleckstrin homology domain containing, family A member 7; zinc finger nuclease induced mutant 4, Medical College of Wisconsin

ameliorates

compared to wild type

RGD

PMID:25136115 PMID:25136115

RGD:11079199, RGD:11079199

G

peroxisome proliferator-activated receptor gamma

treatment

RGD

NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468

G

regulator of G-protein signaling 2

susceptibility

associated with Hypertension

RGD

NCBI chr13:55,799,749...55,802,354
Ensembl chr13:55,798,829...55,802,385

G

renalase, FAD-dependent amine oxidase

RGD

NCBI chr 1:231,037,481...231,309,855
Ensembl chr 1:231,037,486...231,309,823

G

serpin family E member 1

treatment

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

G

SHC adaptor protein 1

ameliorates

RGD

NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536

G

SHC adaptor protein 1; ZFN induced mutant 4, Medical College of Wisconsin

ameliorates

RGD

G

solute carrier family 2 member 1

RGD

NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416

G

secreted phosphoprotein 1

RGD

NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162

G

synaptopodin

treatment

RGD

NCBI chr18:54,048,299...54,106,388
Ensembl chr18:54,026,152...54,102,126

G

TNF receptor superfamily member 1B

associated with Hypertension

RGD

NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206

hypotrichosis-lymphedema-telangiectasia-renal defect syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SRY-box transcription factor 18

ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:2484451 PMID:12740761 PMID:24697860 PMID:25741868 PMID:28492532 More...

NCBI chr 3:168,785,488...168,787,290
Ensembl chr 3:168,785,490...168,787,290

IgA glomerulonephritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

disease_progression

ClinVar Annotator: match by term: Susceptibility to progression to renal failure in IgA nephropathy
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:intron:

ClinVar
CTD
RGD

PMID:1313972 PMID:1319114 PMID:1328889 PMID:1386652 PMID:1976655 More...

RGD:1331525, RGD:7257515

NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131

G

acyl-CoA synthetase medium-chain family member 3

disease_progression

DNA:polymorphism: :

RGD

NCBI chr 1:174,133,260...174,159,966
Ensembl chr 1:174,133,288...174,160,184

G

ADAM metallopeptidase domain 10

CTD Direct Evidence: marker/mechanism

NCBI chr 8:71,346,008...71,477,889
Ensembl chr 8:71,345,837...71,477,889

G

adducin 1

disease_progression

DNA:polymorphism:cds:rs4961(human)

RGD

NCBI chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182

G

adducin 2

disease_progression

DNA:polymorphism:cds: rs4984(human)

RGD

NCBI chr 4:118,444,594...118,538,505
Ensembl chr 4:118,497,416...118,538,505

G

angiotensinogen

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Susceptibility to progression to renal failure in IgA nephropathy

PMID:1394429 PMID:7649545 PMID:7883995 PMID:8348146 PMID:8513325 More...

NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977

G

angiotensin II receptor, type 1a

protein:increased expression:kidney tubule

RGD

NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946

G

angiotensin II receptor, type 2

disease_progression

DNA:polymorphism: :1818A>T (human)
protein:increased expression:kidney tubule

RGD

PMID:19194560 PMID:15930094

RGD:6903844, RGD:6903851

NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057

G

aurora kinase B

CTD Direct Evidence: marker/mechanism

NCBI chr10:53,744,290...53,750,831
Ensembl chr10:53,745,142...53,750,837

G

beta-1,4-galactosyltransferase 1

OMIM:161950 | OMIM:616818

NCBI chr 5:55,935,614...55,982,461
Ensembl chr 5:55,935,615...55,982,461

G

complement C1q A chain

CTD Direct Evidence: marker/mechanism

PMID:8840296 PMID:25133636

NCBI chr 5:149,133,635...149,136,482
Ensembl chr 5:149,133,636...149,136,534

G

complement C1q B chain

CTD Direct Evidence: marker/mechanism

NCBI chr 5:149,118,843...149,124,394
Ensembl chr 5:149,118,846...149,124,407

G

complement C2

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505

G

complement C3

mRNA,protein:increased expression, increased activity:kidney

RGD

NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429

G

caspase recruitment domain family, member 9

CTD Direct Evidence: marker/mechanism

NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237

G

C-C motif chemokine ligand 2

protein:increased expression:kidney

RGD

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

C-C motif chemokine ligand 20

disease_progression

RGD

NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629

G

C-C motif chemokine receptor 6

disease_progression

RGD

NCBI chr 1:52,474,477...52,508,301
Ensembl chr 1:52,474,168...52,498,603

G

CD14 molecule

disease_progression

DNA:polymorphism:promoter:c. -159C>T (human)

RGD

NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261

G

CD163 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878

G

CD44 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620

G

complement factor B

disease_progression

mRNA:increased expression:kidney
protein:increased expression:serum

RGD

PMID:8567024 PMID:17385664 PMID:3118258

RGD:7242737, RGD:7242759, RGD:7242754

NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505

G

complement factor H-related 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:51,395,583...51,410,571
Ensembl chr13:51,369,211...51,410,592

G

chromogranin A

associated with Hypertension;DNA:polymorphism:promoter:-415T>C (human)

RGD

NCBI chr 6:121,696,051...121,707,399
Ensembl chr 6:121,696,051...121,707,398

G

coronin 1C

CTD Direct Evidence: marker/mechanism

NCBI chr12:42,713,024...42,785,179
Ensembl chr12:42,712,991...42,785,179

G

C-X-C motif chemokine receptor 2

DNA:SNPs: :rs4674257, rs4674259 (human)

RGD

NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425

G

defensin alpha 5

CTD Direct Evidence: marker/mechanism

PMID:22197929 PMID:25305756

NCBI chr16:70,342,530...70,344,854
Ensembl chr16:70,342,530...70,344,836

G

fatty acid binding protein 1

protein:increased expression:urine (human)

RGD

NCBI chr 4:103,191,015...103,194,791
Ensembl chr 4:103,191,006...103,194,788

G

Fas cell surface death receptor

treatment

RGD

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

G

Fc alpha receptor

RGD

PMID:22451718 PMID:21985370

RGD:7242063, RGD:7242167

NCBI chr 1:69,626,458...69,660,558

G

Fc gamma receptor 3A

disease_progression

DNA:polymorphism:exon:p.F176V(human)

RGD

NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921

G

fibronectin 1

protein:increased expression:kidney

RGD

NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678

G

forkhead box M1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:161,639,538...161,652,012
Ensembl chr 4:161,638,816...161,650,684

G

G protein-coupled receptor 183

CTD Direct Evidence: marker/mechanism

NCBI chr15:99,037,764...99,050,550
Ensembl chr15:99,036,367...99,050,559

G

hepatitis A virus cellular receptor 1

protein:increased expression:urine:

RGD

PMID:23135864 PMID:21467131

RGD:7245479, RGD:7245983

NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698

G

heparanase

CTD Direct Evidence: marker/mechanism

NCBI chr14:8,896,593...8,937,011
Ensembl chr14:8,896,593...8,937,010

G

insulin-like growth factor 1 receptor

DNA: snp::rs2229765

RGD

NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777

G

interleukin 18

RGD

NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887

G

interleukin 1 alpha

no_association

DNA:SNP:promoter:-889C>T (human)

RGD

NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822

G

interleukin 1 beta

no_association

DNA:SNPs: :rs1143627, rs3917356, rs1143633 (human)

RGD

PMID:19280228 PMID:21049406

RGD:6907082, RGD:6907116

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 1 receptor antagonist

susceptibility

DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)
mouse model treated with human protein
response to immunoglobulin therapy
rat model treated with human protein
protein:decreased expression:serum, urine (human)
DNA:polymorphisms:intron, 3' utr:IVS1+1890G>T, IVS1+8796A>G, *138C>G (rs928940, rs439154, rs315951) (human)

RGD

PMID:10916103 PMID:9370186 PMID:9844059 PMID:10079261 PMID:10566895 More...

RGD:6906961, RGD:6909150, RGD:6909132, RGD:6909131, RGD:6907427, RGD:6907414, RGD:6907082

NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445

G

kinesin family member 15

CTD Direct Evidence: marker/mechanism

NCBI chr 8:122,601,888...122,672,750
Ensembl chr 8:122,601,897...122,672,750

G

leukocyte-associated immunoglobulin-like receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:70,068,571...70,187,851
Ensembl chr 1:70,157,681...70,185,807

G

lysosomal protein transmembrane 5

CTD Direct Evidence: marker/mechanism

NCBI chr 5:143,087,759...143,109,807
Ensembl chr 5:143,087,759...143,109,807

G

lipocalin 2

protein:increased expression:urine:

RGD

NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095

G

LHFPL tetraspan subfamily member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:25,281,771...25,428,128
Ensembl chr 2:25,281,901...25,427,950

G

mannosidase, alpha, class 2B, member 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:23,055,092...23,074,398
Ensembl chr19:23,055,097...23,074,389

G

MER proto-oncogene, tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:115,939,351...116,045,141
Ensembl chr 3:115,939,351...116,046,554

G

microRNA 20a

disease_progression

RGD

NCBI chr15:92,181,084...92,181,168
Ensembl chr15:92,181,084...92,181,168

G

matrix metallopeptidase 14

mRNA:increased expression:glomerulus

RGD

NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864

G

membrane spanning 4-domains A6A

CTD Direct Evidence: marker/mechanism

NCBI chr 1:208,401,465...208,414,831
Ensembl chr 1:208,401,466...208,414,758

G

5-methyltetrahydrofolate-homocysteine methyltransferase

DNA:polymorphism:Cds :2756A>G(human)

RGD

NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822

G

mucin 20, cell surface associated

disease_progression

DNA:repeat

RGD

NCBI chr11:67,987,816...68,001,496
Ensembl chr11:67,987,800...68,001,495

G

nerve growth factor

DNA:SNP: :rs11102930 (human)

RGD

NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452

G

notch receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088

G

OTU deubiquitinase, ubiquitin aldehyde binding 1

protein:increased expression:kidney

RGD

NCBI chr 1:204,387,215...204,395,495
Ensembl chr 1:204,387,215...204,395,483

G

phosphodiesterase 5A

DNA:SNP: :rs13124532(human)

RGD

NCBI chr 2:210,858,515...211,003,480
Ensembl chr 2:210,858,063...210,999,701

G

polymeric immunoglobulin receptor

ClinVar Annotator: match by term: IgA glomerulonephritis

PMID:12740691 PMID:16282702

NCBI chr13:42,298,905...42,326,877
Ensembl chr13:42,298,914...42,326,875

G

phospholipase A2 group VII

disease_progression

DNA:polymorphism:exon:

RGD

NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476

G

plasminogen activator, urokinase

CTD Direct Evidence: therapeutic

NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775

G

protein regulator of cytokinesis 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:134,250,086...134,271,765
Ensembl chr 1:134,250,081...134,271,765

G

RT1 class II, locus Bb

disease_progression

CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :HLA-DQB1*0301(human)

CTD
RGD

PMID:25305756 PMID:7638860

NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597

G

secretoglobin family 1A member 1

disease_progression

OMIM:161950 | OMIM:616818

NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610

G

selectin E

DNA:SNP:exon:p.H468Y (human)
ClinVar Annotator: match by term: IgA nephropathy, susceptibility to

PMID:11828340 PMID:16282702 PMID:11828340

NCBI chr13:76,402,841...76,412,741
Ensembl chr13:76,403,304...76,412,741

G

selectin L

RGD

PMID:17452405 PMID:11828340

RGD:7175290, RGD:1625253

NCBI chr13:76,416,969...76,436,444
Ensembl chr13:76,416,915...76,436,456

G

serpin family B member 7

disease_progression

DNA:SNPs:3' utr:2093C>T, 2180C>T (human)
DNA:SNP:5' utr, exon:267G>A (human)
DNA:SNP: :23167A>G (human)

RGD

PMID:18793525 PMID:16796905 PMID:16550745

RGD:7207366, RGD:7207380, RGD:7207372

NCBI chr13:23,369,830...23,442,205
Ensembl chr13:23,395,671...23,442,205

G

sonic hedgehog signaling molecule

RGD

NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170

G

solute carrier family 43, member 3

CTD Direct Evidence: marker/mechanism

NCBI chr 3:70,008,160...70,030,324
Ensembl chr 3:70,009,313...70,029,749

G

sprouty RTK signaling antagonist 2

susceptibility

ClinVar Annotator: match by term: IgA nephropathy, susceptibility to, 3
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:25741868 PMID:25782674

NCBI chr15:82,692,291...82,697,408
Ensembl chr15:82,692,143...82,698,009

G

ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:101,910,220...101,928,412
Ensembl chr10:101,909,971...101,915,008
Ensembl chr10:101,909,971...101,915,008

G

signal transducer and activator of transcription 4

disease_progression
no_association

DNA:SNP: :rs7561832 (human)
DNA:SNP:intron:c.274-28828C>G (rs10181656) (human)

RGD

PMID:20045654 PMID:20479942

RGD:7207872, RGD:7207878

NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540

G

transforming growth factor, beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

TIMP metallopeptidase inhibitor 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664

G

toll-like receptor 1

susceptibility

DNA:snps:promoter, cds:g.-414C>T, p.N248S (rs5743557, rs4833095) (human)

RGD

NCBI chr14:43,384,127...43,396,765
Ensembl chr14:43,384,932...43,397,125

G

toll-like receptor 9

severity
treatment

DNA, mRNA:SNP, increased expression:exon, spleen:g.159C>G (mouse)
associated with Graft vs Host Disease; mRNA:increased expression:splenocyte (mouse)
DNA:SNPs:intron, exon:IVS4-44A>G, c.1635G>A (rs352139, rs352140) (human)

RGD

PMID:18776126 PMID:21621468 PMID:21621468 PMID:18776126

RGD:7246889, RGD:7246893, RGD:7246893, RGD:7246889

NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796

G

tumor necrosis factor

treatment

RGD

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

TNF receptor superfamily member 1A

treatment

protein:increased expression:serum

RGD

PMID:16209246 PMID:9844059

RGD:6907414, RGD:6909132

NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591

G

TNF receptor superfamily member 1B

treatment

protein:increased expression:serum

RGD

PMID:16209246 PMID:9844059

RGD:6907414, RGD:6909132

NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206

G

TNF superfamily member 13

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,400,054...54,403,723
Ensembl chr10:54,400,065...54,403,042

G

TNF superfamily member 13b

OMIM:161950

NCBI chr16:79,462,406...79,492,888
Ensembl chr16:79,462,402...79,492,693

G

TNF superfamily member 14

OMIM:161950

NCBI chr 9:2,068,295...2,073,128
Ensembl chr 9:2,069,104...2,073,216

G

vav guanine nucleotide exchange factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:197,011,901...197,354,321
Ensembl chr 2:197,011,831...197,354,321

G

V-set and immunoglobulin domain containing 4

CTD Direct Evidence: marker/mechanism

NCBI chr X:61,144,926...61,170,212
Ensembl chr X:61,144,928...61,170,212

G

WASP actin nucleation promoting factor

OMIM:161950 | OMIM:616818

NCBI chr X:14,405,105...14,413,850
Ensembl chr X:14,405,124...14,413,849

immune-complex glomerulonephritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

microRNA 146a

RGD

NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610

lipoid nephrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin-dependent kinase inhibitor 1A

treatment

RGD

NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585

G

interleukin 13

RGD

NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737

G

interleukin 17A

Protein:increased expression:plasma (rat)

RGD

NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889

G

galectin 1

protein:decreased expression:glomerulus, podocytes (rat)

RGD

NCBI chr 7:110,485,239...110,488,345
Ensembl chr 7:110,481,392...110,488,345

G

LIM homeobox transcription factor 1 beta

ClinVar Annotator: match by term: Lipoid nephrosis

PMID:23687361 PMID:32581362

NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899

G

nuclear receptor subfamily 3, group C, member 1

disease_progression

RGD

NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375

G

signal transducer and activator of transcription 6

severity
no_association

DNA:polymorphism:3' utr:g.2964G>A (human)
DNA:polymorphism:3' utr:2964G>A (human)
DNA:repeat:exon, 5' utr:g.-3041(GT)15-16 (human)

RGD

PMID:12900808 PMID:15687724 PMID:19011907

RGD:7244138, RGD:7244146, RGD:7244144

NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495

lupus nephritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

advanced glycosylation end product-specific receptor

DNA:polymorphisms:promoter, intron:g.-429T>C rs1800625, g.-374T>A rs1800624, g.2184A>G rs3134940 (human)

RGD

NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078

G

apolipoprotein C3

protein:increased expression:serum

RGD

NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583

G

complement C3

protein:decreased expression:serum
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:31182691 PMID:21888025

NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429

G

C-C motif chemokine ligand 2

severity
susceptibility

protein:increased expression:urine (human)
DNA:snp:promoter:g.-2518A>G (human)

RGD

PMID:8558841 PMID:15188361

RGD:8549732, RGD:11528534

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

C-C motif chemokine ligand 3

RGD

NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938

G

C-C motif chemokine receptor 1

disease_progression

RGD

NCBI chr 8:123,556,286...123,561,841

G

CD40 molecule

treatment

RGD

PMID:23799000 PMID:18566369 PMID:19265127

RGD:7248418, RGD:7248429, RGD:7248425

NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534

G

CD40 ligand

treatment

protein:increased expression:serum

RGD

PMID:20726330 PMID:11751940 PMID:12632425 PMID:13130474 PMID:15693003

RGD:7248426, RGD:7248714, RGD:7248710, RGD:7248600, RGD:7248439

NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306

G

complement factor B

RGD

PMID:10623824 PMID:3183062 PMID:21893562

RGD:7242736, RGD:7242763, RGD:7242755

NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505

G

complement factor H

RGD

NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838

G

clusterin

mRNA:increased expression: epithelial cell of renal tubule

RGD

NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315

G

collagen type I alpha 1 chain

associated with Graft vs Host Disease
mRNA, protein:increased expression:kidney cortex

RGD

PMID:21354048 PMID:7700025 PMID:7723234

RGD:5688301, RGD:5688333, RGD:5688332

NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624

G

C-reactive protein

no_association

RGD

PMID:18852001 PMID:20039408 PMID:15692982

RGD:6907400, RGD:6909146, RGD:6909145

NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178

G

colony stimulating factor 1

RGD

PMID:21885670 PMID:17659436

RGD:7257567, RGD:7257589

NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704

G

cytotoxic T-lymphocyte-associated protein 4

RGD

NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963

G

epidermal growth factor

RGD

NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064

G

Fas cell surface death receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

G

Fc gamma receptor 2A

DNA:missense mutation:cds:p.H131R (human)
ClinVar Annotator: match by term: Lupus nephritis, susceptibility to

PMID:8636449 PMID:9843982 PMID:10675363 PMID:15367919 PMID:19915573 More...

NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967

G

Fc gamma receptor 2B

RGD

NCBI chr13:83,191,253...83,207,778
Ensembl chr13:83,193,163...83,207,778

G

interferon gamma

protein:increased expression:serum,urine
CTD Direct Evidence: marker/mechanism
protein:increased processing:kidney

CTD
RGD

PMID:31182691 PMID:22764573 PMID:29925830

RGD:6893369, RGD:14974252

NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375

G

interleukin 17A

treatment

RGD

NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889

G

interleukin 18

RGD

NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887

G

interleukin 1 beta

mRNA:increased expression:renal glomerulus (mouse)

RGD

PMID:21641991 PMID:20410215

RGD:7175315, RGD:7175344

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 1 receptor antagonist

resistance

associated with Lupus Erythematosus, Systemic; protein:increased expression:serum (human)

RGD

NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445

G

integrin subunit alpha M

RGD

NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503

G

Janus kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:115,780,248...115,888,841
Ensembl chr 5:115,780,248...115,888,926

G

kallikrein B1

susceptibility

DNA:SNPs:promoter:

RGD

NCBI chr16:46,958,634...46,982,054
Ensembl chr16:46,958,707...46,982,053

G

mannose binding lectin 2

disease_progression

DNA:polymorphism:exon:

RGD

NCBI chr 1:228,016,439...228,024,736

G

microRNA 125a

RNA:decreased expression:kidney

RGD

NCBI chr 1:58,677,626...58,677,710
Ensembl chr 1:58,677,626...58,677,710

G

matrix metallopeptidase 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

matrix metallopeptidase 9

CTD Direct Evidence: marker/mechanism

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

myeloperoxidase

susceptibility

DNA:polymorphism: :−463G > A (human)

RGD

NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819

G

mechanistic target of rapamycin kinase

RGD

NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311

G

mucin 20, cell surface associated

RGD

NCBI chr11:67,987,816...68,001,496
Ensembl chr11:67,987,800...68,001,495

G

nuclear receptor subfamily 3, group C, member 1

RGD

PMID:21509671 PMID:17880936

RGD:7174713, RGD:7174734

NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375

G

OTU deubiquitinase, ubiquitin aldehyde binding 1

protein:increased expression:kidney

RGD

NCBI chr 1:204,387,215...204,395,495
Ensembl chr 1:204,387,215...204,395,483

G

programmed cell death 1

onset

DNA:polymorphism: :
DNA:polymorphism:intron:6867 C>T (human)

RGD

PMID:15934088 PMID:21041733 PMID:15352422

RGD:7248675, RGD:7248678, RGD:7248676

NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937

G

RT1 class II, locus Ba

susceptibility

DNA:polymorphisms:cds:HLA-DQA1*0101 (human)
DNA:polymorphisms:cds:HLA-DQA1*0102 (human)

NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744

G

RT1 class II, locus Db1

susceptibility

DNA:polymorphisms:cds:HLA-DRB1*1501 (human)

NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258

G

selectin L

RGD

NCBI chr13:76,416,969...76,436,444
Ensembl chr13:76,416,915...76,436,456

G

serpin family G member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:69,842,726...69,852,583
Ensembl chr 3:69,842,739...69,852,034

G

small nuclear ribonucleoprotein polypeptide E

treatment

mouse model

RGD

NCBI chr13:45,050,986...45,057,231
Ensembl chr13:45,050,986...45,057,310
Ensembl chr 8:45,050,986...45,057,310

G

signal transducer and activator of transcription 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540

G

signal transducer and activator of transcription 4

RGD

NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540

G

signal transducer and activator of transcription 6

disease_progression

RGD

NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495

G

toll-like receptor 7

RGD

NCBI chr X:27,027,380...27,054,309
Ensembl chr X:27,027,425...27,054,754

G

toll-like receptor 9

severity
treatment
no_association

mRNA, protein:increased expression:kidney (mouse)
associated with Graft vs Host Disease
protein:increased expression:renal glomerulus (human)
associated with Lupus Erythematosus, Systemic; DNA:snps:promoter, intron:g.-1486T>C, g.+1174A>G (rs187084, rs352139) (human, North Indian)
DNA:snps:intron, exon:g.+1174G>A, g.+1635C>T (rs352139, rs352140) (human, Chinese)

RGD

PMID:23467932 PMID:17469139 PMID:21127878 PMID:19578108 PMID:22787315 More...

RGD:7245987, RGD:7246911, RGD:7246897, RGD:7246896, RGD:7245989, RGD:7246884

NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796

G

tumor necrosis factor

protein:increased expression:glomerular mesangial cell

RGD

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

TNF receptor superfamily member 11B

associated with Lupus Erythematosus, Systemic;protein:increased expression:urine

RGD

NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538

G

TNF receptor superfamily member 1A

severity

RGD

PMID:19201910 PMID:10906156

RGD:7245569, RGD:7245572

NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591

G

TNF receptor superfamily member 1B

treatment

RGD

PMID:22846145 PMID:22674120

RGD:7245541, RGD:7245544

NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206

G

vascular cell adhesion molecule 1

severity

protein:increased expression:urine

RGD

NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958

membranoproliferative glomerulonephritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

albumin

CTD Direct Evidence: marker/mechanism

NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836

G

angiopoietin 2

protein:increased expression:glomerulus (rat)

RGD

PMID:18272601 PMID:16014048

RGD:2314193, RGD:2314222

NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804

G

complement C1q A chain

CTD Direct Evidence: marker/mechanism

NCBI chr 5:149,133,635...149,136,482
Ensembl chr 5:149,133,636...149,136,534

G

complement C3

ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis

NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429

G

C-C motif chemokine ligand 2

treatment

RGD

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

cellular communication network factor 2

protein:increased expression:kidney, glomerulus (rat)

RGD

NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734

G

C-C motif chemokine receptor 6

treatment

RGD

NCBI chr 1:52,474,477...52,508,301
Ensembl chr 1:52,474,168...52,498,603

G

cyclin dependent kinase 2

RGD

NCBI chr 7:1,129,878...1,137,431
Ensembl chr 7:1,129,811...1,137,403

G

cyclin-dependent kinase inhibitor 1B

protein:decreased expression:kidney

RGD

NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982

G

complement factor B

RGD

PMID:12091909 PMID:2329415

RGD:734771, RGD:7242760

NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505

G

complement factor H

CTD Direct Evidence: marker/mechanism
OMIM:305800
ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis | ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis, type II

CTD
MouseDO
ClinVar

PMID:14978182 PMID:32581362

NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838

G

complement factor I

RGD

NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561

G

C-X-C motif chemokine receptor 1

RGD

NCBI chr 9:75,766,894...75,771,079
Ensembl chr 9:75,766,770...75,771,084

G

endothelin 1

treatment

mRNA, protein:increased expression:glomerulus (rat)

RGD

PMID:8569091 PMID:11601021

RGD:4144848, RGD:8662296

NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885

G

E1A binding protein p300

treatment

RGD

NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088

G

coagulation factor V

RGD

NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317

G

fibronectin 1

RGD

NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678

G

interleukin 1 beta

RGD

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

potassium sodium-activated channel subfamily T member 2

ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis

NCBI chr13:51,664,129...52,059,209
Ensembl chr13:51,664,686...52,056,987

G

myocilin

protein:increased expression:renal glomerulus (rat)

RGD

NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127

G

profilin 1

RGD

NCBI chr10:55,365,263...55,367,968
Ensembl chr10:55,365,262...55,527,631

G

paraoxonase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360

G

perforin 1

mRNA:increased expression:glomerulus

RGD

NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701

G

secreted protein acidic and cysteine rich

mRNA:increased expression:glomerulus

RGD

NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396

G

transforming growth factor, beta receptor 2

RGD

NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228

G

toll-like receptor 1

mRNA:increased expression:renal glomerulus (mouse)

RGD

NCBI chr14:43,384,127...43,396,765
Ensembl chr14:43,384,932...43,397,125

G

toll-like receptor 11

mRNA:increased expression:renal glomerulus (mouse)

RGD

NCBI chr15:23,545,408...23,549,849
Ensembl chr15:23,545,408...23,549,849

G

toll-like receptor 2

mRNA:increased expression:renal glomerulus (mouse)

RGD

NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630

G

toll-like receptor 4

mRNA:increased expression:renal glomerulus (mouse)

RGD

NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628

G

toll-like receptor 5

mRNA:increased expression:renal glomerulus (mouse)

RGD

NCBI chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738

G

toll-like receptor 6

mRNA:increased expression:renal glomerulus (mouse)

RGD

NCBI chr14:43,362,164...43,374,500
Ensembl chr14:43,362,164...43,375,685

G

toll-like receptor 7

mRNA:increased expression:renal glomerulus (mouse)

RGD

NCBI chr X:27,027,380...27,054,309
Ensembl chr X:27,027,425...27,054,754

G

toll-like receptor 8

mRNA:increased expression:renal glomerulus (mouse)

RGD

NCBI chr X:27,091,780...27,116,092
Ensembl chr X:27,091,778...27,116,549

G

toll-like receptor 9

mRNA:increased expression:renal glomerulus (mouse)

RGD

NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796

G

thymic stromal lymphopoietin

CTD Direct Evidence: marker/mechanism
OMIM:305800

NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548

membranous glomerulonephritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha-2-macroglobulin

protein:increased expression:serum

RGD

NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786

G

ATP binding cassette subfamily A member 1

RGD

NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170

G

albumin

CTD Direct Evidence: marker/mechanism

PMID:1342223 PMID:9794552 PMID:11938814 PMID:12776520 PMID:15385633 More...

NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836

G

apolipoprotein A1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035

G

apolipoprotein E

protein:increased expression:serum (rat)

RGD

NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932

G

complement C3

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:25954969 PMID:10729746

NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429

G

complement C7

RGD

NCBI chr 2:54,088,116...54,165,102
Ensembl chr 2:54,088,116...54,158,535

G

CD40 molecule

treatment

RGD

PMID:23223173 PMID:23223173

RGD:8547786, RGD:8547786

NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534

G

CD40 ligand

treatment

associated with Lupus Erythematosus, Systemic

RGD

PMID:17911451 PMID:7564113

RGD:7248430, RGD:7248720

NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306

G

cyclin-dependent kinase inhibitor 1B

treatment

RGD

NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982

G

complement factor B

susceptibility

RGD

NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505

G

complement factor H

mRNA, protein:increased expression:glomerulus

RGD

NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838

G

alpha glucosidase

CTD Direct Evidence: marker/mechanism

NCBI chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836

G

interleukin 1 beta

RGD

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

LDL receptor related protein 2

mRNA:decreased expression:glomerulus

RGD

NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708

G

LDL receptor related protein associated protein 1

mRNA, protein:increased expression:glomerulus, epithelial cell

RGD

PMID:7778686 PMID:7723231

RGD:1641937, RGD:1641936

NCBI chr14:75,651,371...75,663,380
Ensembl chr14:75,651,376...75,665,414

G

mitogen-activated protein kinase kinase kinase 5

protein:increased activity,protein:renal glomerulus:

RGD

NCBI chr 1:14,685,776...14,904,935
Ensembl chr 1:14,685,492...14,904,800

G

membrane metallo-endopeptidase

antenatal membranous glomerulonephritis
ClinVar Annotator: match by term: Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization

PMID:15464186 PMID:24033266 PMID:25565308 PMID:25741868 PMID:26991897 More...

NCBI chr 2:147,686,913...147,803,808
Ensembl chr 2:147,722,086...147,803,792

G

matrix metallopeptidase 9

RGD

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

NPHS1 adhesion molecule, nephrin

RGD

NCBI chr 1:85,720,812...85,749,079
Ensembl chr 1:85,720,812...85,749,078

G

NPHS2 stomatin family member, podocin

RGD

NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313

G

NAD(P)H quinone dehydrogenase 1

treatment

RGD

NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557

G

plasminogen

RGD

NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786

G

prostaglandin E receptor 3

mRNA:increased expression:renal cortex (rat)

RGD

NCBI chr 2:246,606,131...246,750,970
Ensembl chr 2:246,606,183...246,684,434

G

protein tyrosine phosphatase, receptor type, U

mRNA, protein:decreased expression:glomerulus

RGD

NCBI chr 5:143,950,542...144,024,791
Ensembl chr 5:143,950,965...144,024,768

G

ras homolog family member A

protein:increased activity:epithelial cell

RGD

NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746

G

RT1 class II, locus Ba

DNA:SNP: :rs2187668 (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:11436868 PMID:21323541

NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744

G

RT1 class II, locus Db1

CTD Direct Evidence: marker/mechanism

NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258

G

sonic hedgehog signaling molecule

RGD

NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170

G

secreted protein acidic and cysteine rich

protein:increased expression:kidney

RGD

NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396

G

thromboxane A synthase 1

RGD

NCBI chr 4:67,664,963...67,837,096
Ensembl chr 4:67,665,007...67,837,096

G

transferrin

associated with Lupus Erythematosus, Systemic

RGD

NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511

G

thymic stromal lymphopoietin

treatment

RGD

NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548

mesangial proliferative glomerulonephritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibrillin 1

mRNA:increased expression:cortex of kidney

RGD

NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889

G

Fibroblast growth factor receptor 1

mRNA:increased expression:mesangial cell

RGD

NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350

G

growth arrest and DNA-damage-inducible, gamma

mRNA,protein:increased expression:kidney

RGD

NCBI chr17:13,376,842...13,378,587
Ensembl chr17:13,376,839...13,378,610

G

integrin subunit alpha 8

mRNA:increased expression:cortex of kidney

RGD

NCBI chr17:75,304,004...75,501,510
Ensembl chr17:75,304,008...75,501,510

G

integrin subunit alpha M

exacerbates

RGD

NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503

G

nuclear receptor subfamily 4, group A, member 1

mRNA,protein:increased expression:kidney

RGD

NCBI chr 7:132,368,399...132,389,300
Ensembl chr 7:132,374,840...132,389,297

G

platelet derived growth factor D

treatment

mRNA,protein:increased expression:glomerulus,serum:

RGD

PMID:17308324 PMID:12937299

RGD:9854629, RGD:9854637

NCBI chr 8:3,488,448...3,722,395
Ensembl chr 8:3,488,423...3,722,395

G

Rap guanine nucleotide exchange factor 1

protein:increased expression:renal glomerulus

RGD

NCBI chr 3:12,898,349...13,016,234
Ensembl chr 3:12,898,266...13,013,984

G

von Willebrand factor

protein:increased expression:glomerulus:

RGD

NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539

nephrotic syndrome type 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

annexin A5

protein:increased expression:urine

RGD

NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369

G

advillin

ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome

PMID:25741868 PMID:29058690

NCBI chr 7:62,825,459...62,844,103
Ensembl chr 7:62,826,025...62,844,071

G

axonemal dynein light chain domain containing 1

ClinVar Annotator: match by term: Nephrotic syndrome, type 2 | ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome

PMID:8589695 PMID:9536098 PMID:10742096 PMID:11805166 PMID:12464671 More...

NCBI chr13:68,471,957...68,544,788
Ensembl chr13:68,458,411...68,544,172

G

collagen type IV alpha 3 chain

ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome

NCBI chr 9:83,875,849...84,004,955
Ensembl chr 9:83,875,561...84,001,895

G

collagen type IV alpha 4 chain

ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome

PMID:25741868 PMID:28492532

NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876

G

collagen type IV alpha 5 chain

ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome

NCBI chr X:105,118,762...105,322,699
Ensembl chr X:105,118,820...105,322,692

G

crumbs cell polarity complex component 2

ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome

PMID:25557779 PMID:25741868 PMID:27004616 PMID:27942854 PMID:28492532 More...

NCBI chr 3:21,542,138...21,564,876
Ensembl chr 3:21,542,221...21,563,294

G

NPHS2 stomatin family member, podocin

ClinVar Annotator: match by term: NPHS2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 2 | 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

OMIM
ClinVar
CTD

PMID:1523708 PMID:8589695 PMID:8606597 PMID:9536098 PMID:10742096 More...

NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313

G

nuclear receptor subfamily 3, group C, member 1

mRNA:alternative form:blood, mononuclear cell

RGD

NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375

G

nucleoporin 205

CTD Direct Evidence: marker/mechanism

NCBI chr 4:63,854,934...63,920,852
Ensembl chr 4:63,854,783...63,920,844

G

nucleoporin 93

CTD Direct Evidence: marker/mechanism

NCBI chr19:10,684,214...10,788,009
Ensembl chr19:10,682,075...10,788,026

G

paired box 2

ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome

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

G

phospholipase A2 group VII

disease_progression

RGD

NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476

G

phospholipase C, epsilon 1

DNA:mutations: :

RGD

NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438

G

Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1

ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome

PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More...

NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146

G

transient receptor potential cation channel, subfamily C, member 6

DNA:missense mutations, SNPs:exon, intron:multiple

RGD

NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092

G

Ts translation elongation factor, mitochondrial

ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome

PMID:25741868 PMID:29058690

NCBI chr 7:62,828,997...62,864,784
Ensembl chr 7:62,845,488...62,864,769

G

WT1 transcription factor

ClinVar Annotator: match by term: Familial idiopathic steroid-resistant nephrotic syndrome | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome

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

G

exportin 5

CTD Direct Evidence: marker/mechanism

NCBI chr 9:14,740,182...14,778,171
Ensembl chr 9:14,740,182...14,778,171

nephrotic syndrome type 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

diacylglycerol kinase epsilon

susceptibility

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DGKE-related condition | ClinVar Annotator: match by term: Hemolytic uremic syndrome with DGKE deficiency | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 7 | ClinVar Annotator: match by term: Immunoglobulin-mediated membranoproliferative glomerulonephritis | ClinVar Annotator: match by term: Nephrotic syndrome, type 7

CTD
OMIM
ClinVar

PMID:23274426 PMID:23542698 PMID:24747643 PMID:25135762 PMID:25349199 More...

NCBI chr10:73,853,030...73,877,334
Ensembl chr10:73,855,583...73,877,100

Puromycin Aminonucleoside Nephrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

treatment

RGD

NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131

G

aminocarboxymuconate semialdehyde decarboxylase

RGD

NCBI chr13:39,200,412...39,245,954
Ensembl chr13:39,200,314...39,245,209

G

actin related protein 2

mRNA, protein:increased expression:cortex of kidney (rat)

RGD

NCBI chr14:94,296,443...94,333,735
Ensembl chr14:94,296,443...94,340,524

G

angiotensinogen

RGD

NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977

G

apolipoprotein E

RGD

NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932

G

BAR/IMD domain containing adaptor protein 2

protein:increased expression:glomerular visceral epithelial cell

RGD

NCBI chr10:105,223,065...105,290,130
Ensembl chr10:105,223,090...105,290,134

G

Fas cell surface death receptor

protein:increased expression:renal glomerulus, renal interstitium, renal tubule

RGD

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

G

matrix metallopeptidase 2

mRNA:increased expression:renal glomerulus (rat)

RGD

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

NPHS1 adhesion molecule, nephrin

mRNA, protein:altered expression:glomerulus (rat)

RGD

NCBI chr 1:85,720,812...85,749,079
Ensembl chr 1:85,720,812...85,749,078

G

p21 (RAC1) activated kinase 2

RGD

NCBI chr11:68,707,940...68,768,816
Ensembl chr11:68,707,969...68,768,816

G

renin

RGD

NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489

G

xanthine dehydrogenase

treatment

RGD

NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268

Salcedo Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

LIM homeobox transcription factor 1 beta

ClinVar Annotator: match by term: Nail-patella-like renal disease

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

Term paths to the root

Path 1
Term	Annotations
disease	18969
disease of anatomical entity	18249
Urogenital Diseases	5233
urinary system disease	2830
kidney disease	2586
Glomerular Diseases	434
Glomerular Hyperfiltration	1
Podocyte Diseases +	12
glomerulonephritis +	427

paths to the root