proteinuria - 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:	proteinuria	go back to main search page
Accession:	DOID:576	browse the term
Definition:	A kidney disease that is characterized by the presence of excess proteins in the urine. (DO)
Synonyms:	exact_synonym:	proteinurias
	primary_id:	MESH:D011507
	xref:	ICD10CM:R80; ICD9CM:791.0; NCI:C38012
For additional species annotation, visit the Alliance of Genome Resources.

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Genes (362)

proteinuria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adducin 2

NCBI chrNW_004936491:14,856,764...14,971,161
Ensembl chrNW_004936491:14,862,531...14,971,329

G

adducin 3

NCBI chrNW_004936486:928,956...1,042,168
Ensembl chrNW_004936486:928,522...1,043,084

G

advanced glycosylation end-product specific receptor

susceptibility

associated with Diabetes Mellitus, Type 1; DNA:polymorphism:promoter:-374T>A (human)

NCBI chrNW_004936727:1,418,342...1,422,005
Ensembl chrNW_004936727:1,418,799...1,422,147

G

angiotensinogen

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:464098 PMID:2046802 PMID:9259580 PMID:12937228 PMID:17890855 More...

NCBI chrNW_004936484:19,713,299...19,721,144
Ensembl chrNW_004936484:19,716,165...19,721,261

G

angiotensin II receptor type 1

associated with Kidney Failure, Chronic
CTD Direct Evidence: marker/mechanism

PMID:17021606 PMID:20042458

NCBI chrNW_004936519:6,831,096...6,873,977
Ensembl chrNW_004936519:6,831,096...6,873,985

G

arachidonate 5-lipoxygenase activating protein

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936472:25,477,094...25,502,823
Ensembl chrNW_004936472:25,477,010...25,502,840

G

ankyrin repeat and sterile alpha motif domain containing 6

NCBI chrNW_004936524:7,320,069...7,379,417
Ensembl chrNW_004936524:7,320,497...7,357,350

G

apolipoprotein E

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936706:1,512,438...1,516,805

G

axonemal dynein light chain domain containing 1

ClinVar Annotator: match by term: Proteinuria

NCBI chrNW_004936481:9,531,655...9,609,564

G

beta-2-microglobulin

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

PMID:17634209 PMID:33857584

NCBI chrNW_004936471:7,646,504...7,655,656
Ensembl chrNW_004936471:7,646,373...7,655,778

G

complement C6

associated with Glomerulonephritis

NCBI chrNW_004936518:1,471,116...1,532,733
Ensembl chrNW_004936518:1,471,355...1,532,439

G

CD55 molecule (Cromer blood group)

NCBI chrNW_004936557:5,344,373...5,364,234

G

CD8 subunit alpha

associated with Protozoan Infections, Animal;protein:increased expression:kidney (mouse)

NCBI chrNW_004936712:885,301...891,247
Ensembl chrNW_004936712:885,458...890,852

G

chloride voltage-gated channel 5

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936721:1,552,312...1,602,360
Ensembl chrNW_004936721:1,445,779...1,596,814

G

clusterin

treatment

NCBI chrNW_004936675:499,745...513,515
Ensembl chrNW_004936675:499,199...513,836

G

collagen type IV alpha 3 chain

ClinVar Annotator: match by term: Proteinuria

PMID:25741868 PMID:28492532 PMID:30586318

NCBI chrNW_004936525:8,642,744...8,774,975

G

collagen type IV alpha 5 chain

onset

ClinVar Annotator: match by term: Proteinuria

PMID:25741868 PMID:34675305

NCBI chrNW_004936499:6,143,736...6,360,565
Ensembl chrNW_004936499:6,144,857...6,360,368

G

cathepsin L

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936680:3,047,355...3,050,640

G

C-X-C motif chemokine ligand 10

NCBI chrNW_004936676:60,869...63,028
Ensembl chrNW_004936676:60,621...63,106

G

deoxyribonuclease 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936694:704,948...715,846
Ensembl chrNW_004936694:704,692...710,501

G

dipeptidyl peptidase 4

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936469:16,979,220...17,062,198
Ensembl chrNW_004936469:16,979,410...17,061,159

G

coagulation factor VII

associated with Diabetes Mellitus; protein:increased activity:plasma (human)

NCBI chrNW_004936472:505,751...515,375
Ensembl chrNW_004936472:505,751...514,339

G

Fas cell surface death receptor

CTD Direct Evidence: marker/mechanism

PMID:26590112 PMID:33632240 PMID:36999444

NCBI chrNW_004936735:209,369...234,582

G

glucuronidase beta

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936543:7,721,273...7,732,468
Ensembl chrNW_004936543:7,721,763...7,731,897

G

hepatitis A virus cellular receptor 1

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

PMID:16467126 PMID:19225054

NCBI chrNW_004936515:6,030,402...6,051,161

G

hypoxia inducible factor 1 subunit alpha

mRNA, protein:increased expression:brain,kidney (rat)

NCBI chrNW_004936495:5,770,988...5,816,157
Ensembl chrNW_004936495:5,770,669...5,816,157

G

HR lysine demethylase and nuclear receptor corepressor

NCBI chrNW_004936555:5,936,431...5,954,852
Ensembl chrNW_004936555:5,936,220...5,954,974

G

intercellular adhesion molecule 1

associated with Hypertension;mRNA, protein:increased expression:kidney

NCBI chrNW_004936659:616,570...627,172
Ensembl chrNW_004936659:616,752...627,174

G

interferon beta 1

ameliorates

associated with nephritis, Puromycin Aminonucleoside Nephrosis

NCBI chrNW_004936652:2,736,270...2,736,833

G

interferon gamma

CTD Direct Evidence: marker/mechanism

PMID:3091246 PMID:8289579

NCBI chrNW_004936545:6,139,130...6,144,543
Ensembl chrNW_004936545:6,139,116...6,148,452

G

interleukin 1 receptor antagonist

CTD Direct Evidence: therapeutic
associated with Glomerulonephritis, IGA; DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)

PMID:9370186 PMID:12138282

NCBI chrNW_004936783:1,447,158...1,466,331
Ensembl chrNW_004936783:1,447,106...1,466,340

G

interleukin 6

associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:extracellular space (human)

NCBI chrNW_004936549:7,015,595...7,016,246

G

inverted formin 2

ClinVar Annotator: match by term: Proteinuria

PMID:20023659 PMID:20803156 PMID:21258034 PMID:23014460 PMID:23515051 More...

NCBI chrNW_004936621:677,548...693,609
Ensembl chrNW_004936621:682,027...693,605

G

laminin subunit beta 2

NCBI chrNW_004936529:826,178...841,304
Ensembl chrNW_004936529:826,142...841,337

G

leptin

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936479:15,394,966...15,411,334
Ensembl chrNW_004936479:15,394,966...15,411,334

G

leptin receptor

sexual_dimorphism

compared to BN
CTD Direct Evidence: marker/mechanism
compared to SS/JrHsdMcwi

PMID:20159938 PMID:27465994 PMID:36066211

RGD:12911217 RGD:7365117

NCBI chrNW_004936591:5,771,371...5,846,177
Ensembl chrNW_004936591:5,774,326...5,836,444

G

LIM homeobox transcription factor 1 beta

CTD Direct Evidence: marker/mechanism

PMID:19147669 PMID:20199424

NCBI chrNW_004936487:14,513,303...14,587,771
Ensembl chrNW_004936487:14,513,290...14,587,902

G

optineurin

associated with Nephrosis, Puromycin Aminonucleoside;protein:increased expression:renal glomerulus (rat)

NCBI chrNW_004936862:488,591...516,819

G

cytochrome b-245 heavy chain

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936502:4,631,750...4,676,686
Ensembl chrNW_004936502:4,635,149...4,676,904

G

angiotensin-converting enzyme

severity
treatment

associated with Henoch-Schoenlein purpura;DNA:deletion:intron:IVS16+1464- 1751del (human)
associated with Acute Kidney Injury

PMID:10193250 PMID:10844603

RGD:11038828 RGD:12879396

NCBI chrNW_004936541:4,157,847...4,178,156
Ensembl chrNW_004936541:4,157,393...4,178,177

G

alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase

NCBI chrNW_004936469:57,615,755...57,875,156
Ensembl chrNW_004936469:57,674,982...57,875,107

G

matrix metallopeptidase 2

ameliorates

associated with Experimental Diabetes Mellitus;

NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851

G

mitochondrial inner membrane protein MPV17

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936493:5,246,803...5,258,147
Ensembl chrNW_004936493:5,248,059...5,258,147

G

mucin 16, cell surface associated

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936588:5,506,683...5,586,450

G

myosin heavy chain 9

disease_progression

associated with Epstein syndrome, Fechtner syndrome;DNA:missense mutation:exon:p.R702H, R702C(human)
ClinVar Annotator: match by term: Proteinuria

PMID:20200500 PMID:25741868 PMID:28492532

NCBI chrNW_004936492:4,384,215...4,466,229
Ensembl chrNW_004936492:4,384,215...4,466,262

G

neutrophil cytosolic factor 2

ameliorates

compared to wild-type littermates

NCBI chrNW_004936481:6,300,894...6,325,878
Ensembl chrNW_004936481:6,301,012...6,324,787

G

NCK adaptor protein 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936529:9,647,161...9,718,512
Ensembl chrNW_004936529:9,701,530...9,721,869

G

NCK adaptor protein 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936764:141,159...185,482
Ensembl chrNW_004936764:140,946...185,529

G

NCK associated protein 5

NCBI chrNW_004936469:56,199,988...56,762,974
Ensembl chrNW_004936469:56,199,522...57,025,906

G

NPHS1 adhesion molecule, nephrin

NCBI chrNW_004936570:495,421...514,179
Ensembl chrNW_004936570:494,971...513,874

G

NPHS2 stomatin family member, podocin

ClinVar Annotator: match by term: Proteinuria

PMID:11805166 PMID:11854170 PMID:12446471 PMID:12464671 PMID:14675423 More...

NCBI chrNW_004936481:9,496,083...9,516,086
Ensembl chrNW_004936481:9,496,127...9,515,534

G

natriuretic peptide B

NCBI chrNW_004936474:683,325...684,662
Ensembl chrNW_004936474:683,325...684,665

G

nuclear receptor subfamily 4 group A member 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936512:9,486,096...9,508,338
Ensembl chrNW_004936512:9,499,754...9,508,423

G

p21 (RAC1) activated kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936498:6,001,126...6,135,663
Ensembl chrNW_004936498:6,001,014...6,086,614

G

p21 (RAC1) activated kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936784:1,351,034...1,391,992
Ensembl chrNW_004936784:1,351,039...1,391,992

G

polycystin 1, transient receptor potential channel interacting

ClinVar Annotator: match by term: Proteinuria

NCBI chrNW_004936694:1,923,383...1,958,160
Ensembl chrNW_004936694:1,930,621...1,957,179

G

phospholipase A2 group VII

DNA:mutation: :994G>T(human)

NCBI chrNW_004936476:13,609,847...13,646,174
Ensembl chrNW_004936476:13,609,374...13,649,998

G

phospholipase C epsilon 1

ClinVar Annotator: match by term: Proteinuria

PMID:25741868 PMID:28492532

NCBI chrNW_004936601:817,151...1,105,824
Ensembl chrNW_004936601:816,190...1,105,830

G

proopiomelanocortin

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936493:7,060,747...7,065,276
Ensembl chrNW_004936493:7,061,587...7,065,109

G

paraoxonase 1

associated with Diabetes Mellitus, Type 2;protein:decreased activity:serum (human)

NCBI chrNW_004936585:4,954,871...4,979,560
Ensembl chrNW_004936585:4,954,869...4,979,591

G

peroxisome proliferator activated receptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936629:3,672,445...3,725,645
Ensembl chrNW_004936629:3,672,460...3,725,626

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936481:3,821,564...3,828,086

G

RAB38, member RAS oncogene family

NCBI chrNW_004936736:1,304,290...1,360,412
Ensembl chrNW_004936736:1,304,185...1,361,221

G

renin

CTD Direct Evidence: marker/mechanism

PMID:464098 PMID:2046802

NCBI chrNW_004936567:598,044...607,628
Ensembl chrNW_004936567:598,048...607,497

G

ras homolog family member A

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936529:1,000,050...1,045,655
Ensembl chrNW_004936529:999,935...1,045,681

G

sodium channel epithelial 1 subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936709:1,377,852...1,403,398
Ensembl chrNW_004936709:1,377,831...1,403,833

G

syndecan 1

mRNA, protein:increased expression:glomerulus

NCBI chrNW_004936493:11,177,804...11,199,678
Ensembl chrNW_004936493:11,177,708...11,199,804

G

solute carrier family 9 member A1

NCBI chrNW_004936474:11,460,266...11,517,420
Ensembl chrNW_004936474:11,459,929...11,517,478

G

small nuclear ribonucleoprotein D1 polypeptide

associated with Lupus Erythematosus, Systemic in a mouse model

NCBI chrNW_004936550:1,323,351...1,335,074
Ensembl chrNW_004936550:1,323,378...1,335,069

G

superoxide dismutase 1

CTD Direct Evidence: therapeutic

NCBI chrNW_004936500:10,345,154...10,352,873
Ensembl chrNW_004936500:10,345,154...10,352,867

G

sortilin related VPS10 domain containing receptor 1

associated with hypertension

NCBI chrNW_004936776:27,519...240,225
Ensembl chrNW_004936776:28,537...241,135

G

secreted phosphoprotein 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936905:148,956...156,023
Ensembl chrNW_004936905:148,945...156,079

G

transforming growth factor beta 1

ameliorates

CTD Direct Evidence: marker/mechanism

PMID:12937228 PMID:23249995

NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272

G

transmembrane protein 163

NCBI chrNW_004936469:57,882,130...58,097,965

G

transmembrane protein 67

compared to RGD:14995941

NCBI chrNW_004936544:6,887,867...6,931,669
Ensembl chrNW_004936544:6,887,532...6,932,179

G

transient receptor potential cation channel subfamily C member 6

mRNA:increased expression:glomerular podocytes (rat)

PMID:23385000 PMID:31784544

RGD:155882534 RGD:7247440

NCBI chrNW_004936551:6,173,588...6,282,971
Ensembl chrNW_004936551:6,174,122...6,282,925

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673

G

vitronectin

associated with Mesangial Proliferative Glomerulonephritis

NCBI chrNW_004936538:4,522,275...4,525,245
Ensembl chrNW_004936538:4,522,074...4,525,336

G

WT1 transcription factor

ClinVar Annotator: match by term: Proteinuria

PMID:25741868 PMID:28492532

NCBI chrNW_004936533:5,411,949...5,459,693
Ensembl chrNW_004936533:5,411,848...5,459,693

G

zinc finger E-box binding homeobox 2

mRNA:increased expression:glomerular podocytes (rat)

NCBI chrNW_004936469:32,240,730...32,372,413
Ensembl chrNW_004936469:32,240,835...32,371,267

Albuminuria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adrenomedullin

associated with Hypertension

NCBI chrNW_004936528:8,005,223...8,007,586
Ensembl chrNW_004936528:8,005,189...8,007,643

G

advanced glycosylation end-product specific receptor

treatment

associated with Diabetes Mellitus, Type 2; protein:increased expression:serum (human)
associated with Diabetic Nephropathies
associated with Diabetes Mellitus, Experimental

PMID:20627935 PMID:21607631 PMID:21796806

RGD:7243944 RGD:7244135 RGD:7244184

NCBI chrNW_004936727:1,418,342...1,422,005
Ensembl chrNW_004936727:1,418,799...1,422,147

G

angiotensinogen

CTD Direct Evidence: marker/mechanism

PMID:12414515 PMID:18679781 PMID:21896938

NCBI chrNW_004936484:19,713,299...19,721,144
Ensembl chrNW_004936484:19,716,165...19,721,261

G

aldo-keto reductase family 1 member B

associated with Diabetes Mellitus, Experimental;human gene in a rat model

NCBI chrNW_004936579:1,312,175...1,328,397

G

beta-2-microglobulin

associated with HIV infections;protein:increased expression:urine

NCBI chrNW_004936471:7,646,504...7,655,656
Ensembl chrNW_004936471:7,646,373...7,655,778

G

calcium sensing receptor

associated with Uremia

NCBI chrNW_004936536:8,574,064...8,599,446
Ensembl chrNW_004936536:8,574,064...8,599,454

G

CD38 molecule

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936477:12,109,761...12,156,037
Ensembl chrNW_004936477:12,108,742...12,156,248

G

class II major histocompatibility complex transactivator

DNA:polymorphism:promoter:-168A>G, in non-diabetic subjects

NCBI chrNW_004936530:9,033,510...9,073,341

G

ceruloplasmin

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936519:6,431,156...6,473,183
Ensembl chrNW_004936519:6,431,144...6,481,858

G

C-reactive protein

severity

associated with hypertension
associated with Anemia, Sickle Cell; protein:increased expression:serum

PMID:20016210 PMID:20710104

RGD:6907441 RGD:6909147

NCBI chrNW_004936740:885,855...888,854
Ensembl chrNW_004936740:883,272...890,606

G

colony stimulating factor 1

treatment

associated with Hypercholesterolemia and Diabetes Mellitus, Experimental

NCBI chrNW_004936704:1,372,137...1,393,355
Ensembl chrNW_004936704:1,378,103...1,393,542

G

cathepsin L

associated with Hypertension

NCBI chrNW_004936680:3,047,355...3,050,640

G

dopamine receptor D1

DNA:polymorphism:5' utr:g.-94G>A rs5326 (human)

NCBI chrNW_004936609:790,647...795,187
Ensembl chrNW_004936609:792,276...793,613

G

endothelin 1

protein:increased expression:renal papilla (rat)

NCBI chrNW_004936534:885,489...892,292
Ensembl chrNW_004936534:885,287...891,772

G

erythropoietin

associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:urine,serum

NCBI chrNW_004936543:742,722...745,332
Ensembl chrNW_004936543:743,537...745,343

G

coagulation factor VII

no_association
severity

associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human)
associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human)

PMID:8250495 PMID:8458188 PMID:9187410

RGD:2312406 RGD:2312407 RGD:2312410

NCBI chrNW_004936472:505,751...515,375
Ensembl chrNW_004936472:505,751...514,339

G

fibrillin 1

associated with Hypertension

NCBI chrNW_004936471:10,747,030...10,969,223
Ensembl chrNW_004936471:10,746,996...10,969,231

G

gamma-glutamyltransferase 1

associated with Diabetes Mellitus; protein:increased activity:serum

NCBI chrNW_004936619:762,278...791,610

G

glypican 5

CTD Direct Evidence: therapeutic

NCBI chrNW_004936472:17,492,183...17,708,067

G

hepatitis A virus cellular receptor 1

associated with Anemia, Sickle Cell;protein:increased expression:urine:

NCBI chrNW_004936515:6,030,402...6,051,161

G

insulin like growth factor 1

susceptibility

NCBI chrNW_004936492:11,709,623...11,784,028
Ensembl chrNW_004936492:11,709,222...11,778,351

G

interleukin 1 beta

NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936549:7,015,595...7,016,246

G

insulin

CTD Direct Evidence: marker/mechanism

PMID:9861226 PMID:29420703

NCBI chrNW_004936816:1,002,137...1,003,357
Ensembl chrNW_004936816:1,002,137...1,003,357

G

leptin receptor

CTD Direct Evidence: marker/mechanism

PMID:17065336 PMID:20175764 PMID:23159718 PMID:28130181 PMID:29988851

NCBI chrNW_004936591:5,771,371...5,846,177
Ensembl chrNW_004936591:5,774,326...5,836,444

G

lipase C, hepatic type

associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:plasma (human)

NCBI chrNW_004936471:19,604,083...19,733,721
Ensembl chrNW_004936471:19,703,236...19,733,686

G

angiotensin-converting enzyme

treatment

associated with Diabetic Nephropathies
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Type 1;protein:increased activity:serum (human)

PMID:1336356 PMID:16902320 PMID:23733546

RGD:12879427 RGD:7829770

NCBI chrNW_004936541:4,157,847...4,178,156
Ensembl chrNW_004936541:4,157,393...4,178,177

G

guanine nucleotide-binding protein G(q) subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936503:13,098,517...13,276,106
Ensembl chrNW_004936503:13,099,558...13,276,152

G

LDL receptor related protein 2

NCBI chrNW_004936469:10,245,001...10,438,933
Ensembl chrNW_004936469:10,244,881...10,438,935

G

matrix metallopeptidase 9

onset

associated with Diabetes Mellitus, Type 2; protein:increased expression:plasma (human)

NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793

G

methylenetetrahydrofolate reductase

susceptibility

associated with Diabetes Mellitus, Type 2; DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)

NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193

G

myosin heavy chain 9

associated with hypertension;DNA:SNPs: :

NCBI chrNW_004936492:4,384,215...4,466,229
Ensembl chrNW_004936492:4,384,215...4,466,262

G

NCK adaptor protein 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936529:9,647,161...9,718,512
Ensembl chrNW_004936529:9,701,530...9,721,869

G

NCK adaptor protein 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936764:141,159...185,482
Ensembl chrNW_004936764:140,946...185,529

G

NPHS2 stomatin family member, podocin

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936481:9,496,083...9,516,086
Ensembl chrNW_004936481:9,496,127...9,515,534

G

nuclear receptor subfamily 4 group A member 1

compared to FHH

NCBI chrNW_004936512:9,486,096...9,508,338
Ensembl chrNW_004936512:9,499,754...9,508,423

G

podoplanin

NCBI chrNW_004936474:1,751,159...1,779,011
Ensembl chrNW_004936474:1,750,944...1,781,156

G

paraoxonase 1

DNA:polymorphisms:promoter, cds (human)

NCBI chrNW_004936585:4,954,871...4,979,560
Ensembl chrNW_004936585:4,954,869...4,979,591

G

PPARG coactivator 1 alpha

associated with Diabetes Mellitus, Type 2; DNA:snp:cds:g.75919G>A rs8192678 (human)

NCBI chrNW_004936477:4,881,230...5,488,208
Ensembl chrNW_004936477:5,199,881...5,488,226

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936481:3,821,564...3,828,086

G

parathyroid hormone

associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human)

NCBI chrNW_004936528:5,081,569...5,084,030
Ensembl chrNW_004936528:5,083,596...5,084,030

G

PYD and CARD domain containing

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936501:13,550,702...13,552,774
Ensembl chrNW_004936501:13,550,679...13,552,805

G

RAB38, member RAS oncogene family

compared to FHH-Tg(CAG-Rab38)1Mcwi, FHH.BN-(D1Hmgc14-D1Hmgc15)/Mcwi

PMID:15758045 PMID:23291471

RGD:1357409 RGD:13782139

NCBI chrNW_004936736:1,304,290...1,360,412
Ensembl chrNW_004936736:1,304,185...1,361,221

G

recombination activating 1

NCBI chrNW_004936533:1,817,135...1,827,393
Ensembl chrNW_004936533:1,817,135...1,827,393

G

renin

CTD Direct Evidence: marker/mechanism

PMID:12414515 PMID:18679781

NCBI chrNW_004936567:598,044...607,628
Ensembl chrNW_004936567:598,048...607,497

G

resistin

associated with Hypertension;protein:increased expression:blood

NCBI chrNW_004936588:4,705,295...4,706,653
Ensembl chrNW_004936588:4,705,119...4,706,656

G

serpin family E member 1

associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human)

NCBI chrNW_004936543:1,032,543...1,040,956
Ensembl chrNW_004936543:1,032,794...1,039,123

G

serpin family F member 1

treatment

associated with Diabetes Mellitus, Experimental; human gene in a rat model

NCBI chrNW_004936538:7,885,816...7,898,308
Ensembl chrNW_004936538:7,885,475...7,899,113

G

SH2B adaptor protein 3

NCBI chrNW_004936558:4,103,898...4,126,883
Ensembl chrNW_004936558:4,104,534...4,123,869

G

SHC adaptor protein 1

ameliorates

NCBI chrNW_004936580:4,511,560...4,522,003
Ensembl chrNW_004936580:4,512,680...4,519,715

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781

G

secreted phosphoprotein 1

NCBI chrNW_004936905:148,956...156,023
Ensembl chrNW_004936905:148,945...156,079

G

transmembrane protein 63C

mRNA:increased expression:kidney,renal glomerulus (rat)

NCBI chrNW_004936488:6,050,368...6,086,881
Ensembl chrNW_004936488:6,034,618...6,086,207

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766

G

transient receptor potential cation channel subfamily C member 3

associated with Hypertension;mRNA, protein:increased expression:kidney cortex

NCBI chrNW_004936662:1,130,555...1,171,352
Ensembl chrNW_004936662:1,129,278...1,171,378

G

transient receptor potential cation channel subfamily C member 5

NCBI chrNW_004936499:3,391,386...3,541,406
Ensembl chrNW_004936499:3,343,669...3,543,035

G

transient receptor potential cation channel subfamily C member 6

associated with Hypertension;mRNA:decreased expression:kidney cortex

PMID:19887786 PMID:21839714

RGD:7247445 RGD:7247603

NCBI chrNW_004936551:6,173,588...6,282,971
Ensembl chrNW_004936551:6,174,122...6,282,925

G

thymic stromal lymphopoietin

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936531:5,495,872...5,500,462

G

vascular cell adhesion molecule 1

associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma

NCBI chrNW_004936748:785,491...802,791
Ensembl chrNW_004936748:785,455...803,048

Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dyskerin pseudouridine synthase 1

ClinVar Annotator: match by term: Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1

NCBI chrNW_004936927:134,770...144,057

Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NOP10 ribonucleoprotein

ClinVar Annotator: match by term: Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2

NCBI chrNW_004936673:2,829,599...2,830,407

CD59 Deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD59 molecule (CD59 blood group)

ClinVar Annotator: match by term: CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy | ClinVar Annotator: match by term: CD59-related condition

PMID:1382994 PMID:23149847 PMID:24382084 PMID:25741868 PMID:28492532

NCBI chrNW_004936533:4,242,589...4,263,136

Chronic Benign Proteinuria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cubilin

ClinVar Annotator: match by term: Proteinuria, chronic benign

PMID:9536098 PMID:10080186 PMID:15024727 PMID:16199547 PMID:17576681 More...

NCBI chrNW_004936520:10,140,784...10,410,082
Ensembl chrNW_004936520:10,140,784...10,409,851

Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aspartoacylase

ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE

PMID:7668285 PMID:9537412 PMID:10909858 PMID:27102039 PMID:28492532

NCBI chrNW_004936677:219,459...232,545

G

cystinosin, lysosomal cystine transporter

ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE

PMID:7668285 PMID:9536098 PMID:9537412 PMID:9792862 PMID:10444339 More...

NCBI chrNW_004936677:342,964...360,890
Ensembl chrNW_004936677:343,042...360,879

G

sedoheptulokinase

ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE

PMID:7668285 PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 More...

NCBI chrNW_004936677:314,328...342,892
Ensembl chrNW_004936677:314,294...342,855

G

Tax1 binding protein 3

ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE

PMID:7668285 PMID:9537412 PMID:10909858 PMID:27102039 PMID:28492532

NCBI chrNW_004936677:361,300...367,234

G

transient receptor potential cation channel subfamily V member 1

ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE

PMID:7668285 PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 More...

NCBI chrNW_004936677:277,304...326,907
Ensembl chrNW_004936677:276,994...327,025

G

transient receptor potential cation channel subfamily V member 3

ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE

PMID:7668285 PMID:9537412 PMID:10909858 PMID:27102039 PMID:28492532

NCBI chrNW_004936677:239,133...270,512
Ensembl chrNW_004936677:239,435...270,512

Diffuse Mesangial Sclerosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type IV alpha 4 chain

ClinVar Annotator: match by term: Diffuse mesangial sclerosis

PMID:25514610 PMID:25741868 PMID:28492532 PMID:28632965

NCBI chrNW_004936525:8,788,753...8,899,671
Ensembl chrNW_004936525:8,795,436...8,899,149

G

laminin subunit beta 2

ClinVar Annotator: match by term: Diffuse mesangial sclerosis

PMID:25741868 PMID:28492532

NCBI chrNW_004936529:826,178...841,304
Ensembl chrNW_004936529:826,142...841,337

G

phospholipase C epsilon 1

DNA:mutations: :

NCBI chrNW_004936601:817,151...1,105,824
Ensembl chrNW_004936601:816,190...1,105,830

G

WT1 transcription factor

ClinVar Annotator: match by term: Nephrotic syndrome, early onset with diffuse mesangial sclerosis

PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More...

NCBI chrNW_004936533:5,411,949...5,459,693
Ensembl chrNW_004936533:5,411,848...5,459,693

Donnai-Barrow syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

LMBR1 domain containing 1

ClinVar Annotator: match by term: Donnai-Barrow syndrome

PMID:19136951 PMID:25741868 PMID:28492532

NCBI chrNW_004936618:1,694,886...1,792,586
Ensembl chrNW_004936618:1,689,646...1,792,802

G

LDL receptor related protein 2

ClinVar Annotator: match by term: Diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria | ClinVar Annotator: match by term: Donnai-Barrow syndrome | ClinVar Annotator: match by term: LRP2-related condition

PMID:8266995 PMID:9475100 PMID:9536098 PMID:12923867 PMID:16199547 More...

NCBI chrNW_004936469:10,245,001...10,438,933
Ensembl chrNW_004936469:10,244,881...10,438,935

familial nephrotic syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

axonemal dynein light chain domain containing 1

ClinVar Annotator: match by term: Hereditary nephrotic syndrome

PMID:8589695 PMID:10742096 PMID:11805166 PMID:14675423 PMID:14978175 More...

NCBI chrNW_004936481:9,531,655...9,609,564

G

kirre like nephrin family adhesion molecule 2

ClinVar Annotator: match by term: Congenital nephrotic syndrome | ClinVar Annotator: match by term: Familial nephrotic syndrome

PMID:18436095 PMID:19406966 PMID:25741868 PMID:26467025 PMID:28117080 More...

NCBI chrNW_004936570:485,202...493,350
Ensembl chrNW_004936570:486,249...493,356

G

NPHS2 stomatin family member, podocin

ClinVar Annotator: match by term: Hereditary nephrotic syndrome

PMID:8589695 PMID:10742096 PMID:11729243 PMID:11805166 PMID:11854170 More...

NCBI chrNW_004936481:9,496,083...9,516,086
Ensembl chrNW_004936481:9,496,127...9,515,534

Galloway-Mowat syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GON7 subunit of KEOPS complex

ClinVar Annotator: match by term: Galloway-Mowat syndrome

PMID:25741868 PMID:31481669

NCBI chrNW_004936733:1,109,456...1,127,176
Ensembl chrNW_004936733:1,124,039...1,127,566

G

L antigen family member 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936809:1,229,933...1,232,448

G

O-sialoglycoprotein endopeptidase

ClinVar Annotator: match by term: Galloway-Mowat syndrome

PMID:17897280 PMID:25741868 PMID:28272532 PMID:28805828

NCBI chrNW_004936877:659,881...666,169
Ensembl chrNW_004936877:659,874...666,026

G

TP53 regulating kinase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936514:6,512,838...6,515,479
Ensembl chrNW_004936514:6,512,778...6,515,771

G

TP53RK binding protein

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936491:17,493,630...17,500,779
Ensembl chrNW_004936491:17,493,285...17,500,523

G

WD repeat domain 4

ClinVar Annotator: match by term: Galloway-Mowat syndrome

PMID:25741868 PMID:30079490

NCBI chrNW_004936500:1,144,190...1,162,925
Ensembl chrNW_004936500:1,144,097...1,167,296

G

WD repeat domain 73

ClinVar Annotator: match by term: Galloway-Mowat syndrome

NCBI chrNW_004936483:16,698,878...16,711,510
Ensembl chrNW_004936483:16,697,086...16,711,518

G

zinc finger protein 592

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936483:16,812,578...16,849,188
Ensembl chrNW_004936483:16,813,164...16,849,188

Galloway-Mowat syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

endoglin

ClinVar Annotator: match by term: Galloway-Mowat syndrome 1

PMID:12673790 PMID:15879500 PMID:21158752 PMID:23399955 PMID:24055113 More...

NCBI chrNW_004936487:15,467,165...15,499,180
Ensembl chrNW_004936487:15,467,835...15,477,488

G

WD repeat domain 73

ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 | ClinVar Annotator: match by term: WDR73-related condition

PMID:11391656 PMID:12030328 PMID:16217710 PMID:20531441 PMID:25466283 More...

NCBI chrNW_004936483:16,698,878...16,711,510
Ensembl chrNW_004936483:16,697,086...16,711,518

G

zinc finger protein 592

ClinVar Annotator: match by term: Galloway-Mowat syndrome 1

PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727

NCBI chrNW_004936483:16,812,578...16,849,188
Ensembl chrNW_004936483:16,813,164...16,849,188

Galloway-Mowat Syndrome 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chromosome unknown C1orf122 homolog

ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 | ClinVar Annotator: match by term: YRDC-related condition

PMID:28492532 PMID:31481669

NCBI chrNW_004936474:19,979,705...19,981,362
Ensembl chrNW_004936474:19,979,710...19,981,366

G

yrdC N6-threonylcarbamoyltransferase domain containing

ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 | ClinVar Annotator: match by term: YRDC-related condition

PMID:28492532 PMID:31481669 PMID:34545459

NCBI chrNW_004936474:19,975,781...19,980,103
Ensembl chrNW_004936474:19,975,849...19,980,096

Galloway-Mowat syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

L antigen family member 3

ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked | ClinVar Annotator: match by term: LAGE3-related condition

PMID:12693786 PMID:25741868 PMID:28492532 PMID:28805828

NCBI chrNW_004936809:1,229,933...1,232,448

Galloway-Mowat syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

O-sialoglycoprotein endopeptidase

ClinVar Annotator: match by term: Galloway-Mowat syndrome 3 | ClinVar Annotator: match by term: OSGEP-related condition

PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 More...

NCBI chrNW_004936877:659,881...666,169
Ensembl chrNW_004936877:659,874...666,026

Galloway-Mowat syndrome 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TP53 regulating kinase

ClinVar Annotator: match by term: Galloway-Mowat syndrome 4 | ClinVar Annotator: match by term: TP53RK-related condition

PMID:25741868 PMID:28492532 PMID:28805828 PMID:32581362 PMID:36873107

NCBI chrNW_004936514:6,512,838...6,515,479
Ensembl chrNW_004936514:6,512,778...6,515,771

Galloway-Mowat syndrome 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TP53RK binding protein

ClinVar Annotator: match by term: Galloway-Mowat syndrome 5

PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259

NCBI chrNW_004936491:17,493,630...17,500,779
Ensembl chrNW_004936491:17,493,285...17,500,523

Galloway-Mowat Syndrome 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

WD repeat domain 4

ClinVar Annotator: match by term: Galloway-Mowat syndrome 6

PMID:25741868 PMID:26416026 PMID:28492532 PMID:28617965 PMID:29597095 More...

NCBI chrNW_004936500:1,144,190...1,162,925
Ensembl chrNW_004936500:1,144,097...1,167,296

Galloway-Mowat Syndrome 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nucleoporin 107

ClinVar Annotator: match by term: Galloway-Mowat syndrome 7

PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:28492532 More...

NCBI chrNW_004936545:6,600,124...6,642,839
Ensembl chrNW_004936545:6,600,088...6,642,870

Galloway-Mowat Syndrome 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nucleoporin 133

ClinVar Annotator: match by term: Galloway-Mowat syndrome 8 | ClinVar Annotator: match by term: NUP133-related condition

PMID:11793129 PMID:25741868 PMID:28492532 PMID:30427554

NCBI chrNW_004936484:20,185,558...20,230,904
Ensembl chrNW_004936484:20,185,584...20,231,352

Galloway-Mowat Syndrome 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GON7 subunit of KEOPS complex

ClinVar Annotator: match by term: Galloway-Mowat syndrome 9

PMID:25741868 PMID:31481669

NCBI chrNW_004936733:1,109,456...1,127,176
Ensembl chrNW_004936733:1,124,039...1,127,566

hypoparathyroidism-deafness-renal disease syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acyl-CoA binding domain containing 7

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936574:5,638,054...5,644,749
Ensembl chrNW_004936574:5,633,761...5,644,772

G

aldo-keto reductase family 1 member E2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936484:9,472,920...9,490,624
Ensembl chrNW_004936484:9,474,458...9,490,676

G

ankyrin repeat domain 16

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936484:8,690,183...8,700,705
Ensembl chrNW_004936484:8,690,090...8,701,499

G

ARF like GTPase 5B

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936520:8,877,277...8,903,772
Ensembl chrNW_004936520:8,877,299...8,903,725

G

ankyrin repeat and SOCS box containing 13

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936484:8,855,456...8,873,940
Ensembl chrNW_004936484:8,855,399...8,875,018

G

ATP synthase F1 subunit gamma

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936484:7,016,049...7,031,060

G

BEN domain containing 7

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936613:237,498...318,480

G

complement C1q like 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936520:10,656,437...10,665,067
Ensembl chrNW_004936520:10,656,432...10,666,413

G

calcium voltage-gated channel auxiliary subunit beta 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936520:8,951,994...9,164,039
Ensembl chrNW_004936520:8,955,164...9,295,331

G

calmodulin like 5

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936484:8,999,323...9,000,224

G

calcium/calmodulin dependent protein kinase ID

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936484:2,626,909...2,768,304
Ensembl chrNW_004936484:2,632,107...3,023,869

G

coiled-coil domain containing 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936484:2,455,819...2,567,467
Ensembl chrNW_004936484:2,455,819...2,568,682

G

cell division cycle 123

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936484:3,099,221...3,149,005
Ensembl chrNW_004936484:3,099,011...3,149,514

G

cerebral dopamine neurotrophic factor

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936613:1,386,249...1,406,295
Ensembl chrNW_004936613:1,387,568...1,406,370

G

CUGBP Elav-like family member 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936484:3,904,726...4,401,560
Ensembl chrNW_004936484:3,904,720...4,399,567

G

cubilin

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936520:10,140,784...10,410,082
Ensembl chrNW_004936520:10,140,784...10,409,851

G

DNA cross-link repair 1C

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936613:1,467,797...1,501,107
Ensembl chrNW_004936613:1,470,365...1,501,138

G

dehydrogenase E1 and transketolase domain containing 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936484:3,207,650...3,251,661
Ensembl chrNW_004936484:3,208,198...3,251,896

G

enoyl-CoA hydratase domain containing 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936484:3,508,235...3,530,593
Ensembl chrNW_004936484:3,507,881...3,530,652

G

family with sequence similarity 107 member B

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936613:1,155,094...1,354,026

G

family with sequence similarity 171 member A1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936574:5,742,637...5,795,351
Ensembl chrNW_004936574:5,743,722...5,799,197

G

F-box DNA helicase 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936484:8,635,752...8,689,949
Ensembl chrNW_004936484:8,635,753...8,689,971

G

FERM domain containing 4A

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936613:414,881...710,210
Ensembl chrNW_004936613:414,473...842,905

G

GATA binding protein 3

ClinVar Annotator: match by term: GATA3-related condition | ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

PMID:9536098 PMID:10935639 PMID:11389161 PMID:14985365 PMID:15705923 More...

NCBI chrNW_004936484:6,780,692...6,800,883
Ensembl chrNW_004936484:6,780,692...6,800,966

G

GDP dissociation inhibitor 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936484:8,748,050...8,775,234
Ensembl chrNW_004936484:8,747,984...8,779,236

G

3-hydroxyacyl-CoA dehydratase 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936520:9,716,178...9,725,949
Ensembl chrNW_004936520:9,716,224...9,727,841

G

heat shock protein family A (Hsp70) member 14

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936613:1,406,412...1,436,729
Ensembl chrNW_004936613:1,406,406...1,439,885

G

interleukin 15 receptor subunit alpha

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936484:8,590,945...8,623,478
Ensembl chrNW_004936484:8,590,482...8,623,469

G

interleukin 2 receptor subunit alpha

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936484:8,514,333...8,555,392
Ensembl chrNW_004936484:8,544,062...8,555,332

G

integrin subunit alpha 8

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936574:5,985,181...6,155,067
Ensembl chrNW_004936574:5,984,939...6,155,164

G

inter-alpha-trypsin inhibitor heavy chain 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936484:7,064,836...7,101,872
Ensembl chrNW_004936484:7,065,406...7,101,855

G

inter-alpha-trypsin inhibitor heavy chain 5

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936484:7,123,022...7,207,166
Ensembl chrNW_004936484:7,122,921...7,203,002

G

Kin17 DNA and RNA binding protein

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936484:7,031,160...7,058,696
Ensembl chrNW_004936484:7,030,862...7,060,125

G

uncharacterized LOC101955357

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936862:405,205...413,920
Ensembl chrNW_004936862:404,476...413,561

G

calmodulin-like protein 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936484:8,976,512...8,977,792
Ensembl chrNW_004936484:8,977,252...8,977,701

G

minichromosome maintenance 10 replication initiation factor

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004937104:132,692...160,965

G

meiosis/spermiogenesis associated 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936613:1,508,975...1,513,769
Ensembl chrNW_004936613:1,508,999...1,513,501

G

MINDY lysine 48 deubiquitinase 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936574:6,205,419...6,296,385
Ensembl chrNW_004936574:6,205,442...6,296,345

G

neuroepithelial cell transforming 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936484:9,027,515...9,056,571
Ensembl chrNW_004936484:9,027,515...9,056,600

G

N-myristoyltransferase 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936574:5,653,153...5,698,027
Ensembl chrNW_004936574:5,651,758...5,698,033

G

NOP2/Sun RNA methyltransferase 6

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936520:8,909,509...8,950,960
Ensembl chrNW_004936520:8,909,480...8,950,925

G

nudix hydrolase 5

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936484:3,148,955...3,169,527
Ensembl chrNW_004936484:3,156,586...3,169,146

G

oleoyl-ACP hydrolase

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936613:1,541,001...1,570,882

G

optineurin

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004937104:73,340...113,179

G

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936484:8,356,523...8,434,529
Ensembl chrNW_004936484:8,356,487...8,434,925

G

protein kinase C theta

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936484:8,048,239...8,166,058
Ensembl chrNW_004936484:8,048,132...8,167,636

G

proline and serine rich 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936484:3,423,530...3,435,505
Ensembl chrNW_004936484:3,420,633...3,435,491

G

pre-mRNA processing factor 18

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936613:364,492...401,402
Ensembl chrNW_004936613:364,462...401,402

G

phosphotriesterase related

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936520:10,666,443...10,727,562
Ensembl chrNW_004936520:10,666,439...10,727,591

G

RNA binding motif protein 17

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936484:8,457,469...8,478,030
Ensembl chrNW_004936484:8,457,462...8,478,309

G

ribonuclease P/MRP subunit p38

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936574:5,648,696...5,653,030
Ensembl chrNW_004936574:5,651,758...5,657,119

G

Ras suppressor protein 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936520:10,419,405...10,602,820
Ensembl chrNW_004936520:10,419,395...10,604,762

G

SEC61 translocon subunit alpha 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936484:3,171,444...3,204,726
Ensembl chrNW_004936484:3,168,803...3,204,736

G

selenophosphate synthetase 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936613:108,331...134,727
Ensembl chrNW_004936613:107,821...134,733

G

Scm like with four mbt domains 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936484:7,344,144...7,558,341

G

solute carrier family 39 member 12

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936520:9,380,723...9,444,146
Ensembl chrNW_004936520:9,380,650...9,444,152

G

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936520:9,869,166...9,990,205
Ensembl chrNW_004936520:9,869,195...9,988,541

G

signal transducing adaptor molecule

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936520:9,627,674...9,689,658
Ensembl chrNW_004936520:9,624,628...9,689,686

G

SUV39H2 histone lysine methyltransferase

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936613:1,443,663...1,467,776
Ensembl chrNW_004936613:1,443,629...1,467,229

G

TATA-box binding protein associated factor 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936484:6,834,935...7,002,167
Ensembl chrNW_004936484:6,834,103...7,002,198

G

transcription activation suppressor family member 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936484:8,776,232...8,842,265
Ensembl chrNW_004936484:8,777,440...8,815,985

G

tRNA aspartic acid methyltransferase 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936520:10,104,050...10,122,057

G

tubulin alpha like 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936484:9,066,097...9,073,049
Ensembl chrNW_004936484:9,062,478...9,072,988

G

UPF2 regulator of nonsense mediated mRNA decay

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936484:3,266,196...3,381,511
Ensembl chrNW_004936484:3,266,190...3,381,526

G

USP6 N-terminal like

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936484:3,635,966...3,802,906
Ensembl chrNW_004936484:3,635,960...3,800,934

G

vimentin

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chrNW_004936520:10,051,692...10,059,324
Ensembl chrNW_004936520:10,052,012...10,059,182

Imerslund-Grasbeck Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

amnion associated transmembrane protein

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 More...

NCBI chrNW_004936835:961,840...970,287
Ensembl chrNW_004936835:961,826...970,234

G

calcium voltage-gated channel auxiliary subunit beta 2

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

NCBI chrNW_004936520:8,951,994...9,164,039
Ensembl chrNW_004936520:8,955,164...9,295,331

G

CDC42 binding protein kinase beta

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

PMID:12590260 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 More...

NCBI chrNW_004936835:975,941...1,026,046
Ensembl chrNW_004936835:975,960...1,026,025

G

cubilin

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 More...

NCBI chrNW_004936520:10,140,784...10,410,082
Ensembl chrNW_004936520:10,140,784...10,409,851

G

3-hydroxyacyl-CoA dehydratase 1

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

NCBI chrNW_004936520:9,716,178...9,725,949
Ensembl chrNW_004936520:9,716,224...9,727,841

G

solute carrier family 39 member 12

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

NCBI chrNW_004936520:9,380,723...9,444,146
Ensembl chrNW_004936520:9,380,650...9,444,152

G

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

NCBI chrNW_004936520:9,869,166...9,990,205
Ensembl chrNW_004936520:9,869,195...9,988,541

G

signal transducing adaptor molecule

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

NCBI chrNW_004936520:9,627,674...9,689,658
Ensembl chrNW_004936520:9,624,628...9,689,686

G

TNF receptor associated factor 3

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

NCBI chrNW_004936835:844,747...955,900
Ensembl chrNW_004936835:844,727...950,664

G

tRNA aspartic acid methyltransferase 1

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

NCBI chrNW_004936520:10,104,050...10,122,057

G

vimentin

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

NCBI chrNW_004936520:10,051,692...10,059,324
Ensembl chrNW_004936520:10,052,012...10,059,182

Imerslund-Grasbeck Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

amnion associated transmembrane protein

ClinVar Annotator: match by term: Enterocyte cobalamin malabsorption | ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type

PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 More...

NCBI chrNW_004936835:961,840...970,287
Ensembl chrNW_004936835:961,826...970,234

G

cobalamin binding intrinsic factor

DNA:polymorphisms, missense mutations, splice sites:exon,intron:
protein:increased excretion:urine:

PMID:10435666 PMID:15738392

RGD:11049583 RGD:11049586

NCBI chrNW_004936581:2,919,793...2,933,743
Ensembl chrNW_004936581:2,920,355...2,933,403

G

CDC42 binding protein kinase beta

ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type

PMID:12590260 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 More...

NCBI chrNW_004936835:975,941...1,026,046
Ensembl chrNW_004936835:975,960...1,026,025

G

cubilin

ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type

PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 More...

NCBI chrNW_004936520:10,140,784...10,410,082
Ensembl chrNW_004936520:10,140,784...10,409,851

Imerslund-Grasbeck Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

amnion associated transmembrane protein

ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE | ClinVar Annotator: match by term: Megaloblastic anemia 1, Norwegian type

PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 More...

NCBI chrNW_004936835:961,840...970,287
Ensembl chrNW_004936835:961,826...970,234

G

CDC42 binding protein kinase beta

ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE

PMID:12590260 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 More...

NCBI chrNW_004936835:975,941...1,026,046
Ensembl chrNW_004936835:975,960...1,026,025

Junctional Epidermolysis Bullosa 7, with Interstitial Lung Disease and Nephrotic Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

integrin subunit alpha 3

ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | ClinVar Annotator: match by term: ITGA3-related condition | ClinVar Annotator: match by term: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital

PMID:16199547 PMID:22512483 PMID:24088041 PMID:25741868 PMID:25810266 More...

NCBI chrNW_004936490:11,553,904...11,583,387
Ensembl chrNW_004936490:11,553,861...11,583,380

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

NCBI chrNW_004936476:22,717,308...22,725,127
Ensembl chrNW_004936476:22,717,260...22,725,182

G

interleukin 13

NCBI chrNW_004936647:2,529,933...2,532,503
Ensembl chrNW_004936647:2,530,491...2,532,373

G

interleukin 17A

Protein:increased expression:plasma (rat)

NCBI chrNW_004936476:8,621,860...8,625,008
Ensembl chrNW_004936476:8,621,860...8,625,008

G

galectin 1

protein:decreased expression:glomerulus, podocytes (rat)

NCBI chrNW_004936492:3,407,704...3,411,197
Ensembl chrNW_004936492:3,407,049...3,411,222

G

LIM homeobox transcription factor 1 beta

ClinVar Annotator: match by term: Lipoid nephrosis

PMID:23687361 PMID:32581362

NCBI chrNW_004936487:14,513,303...14,587,771
Ensembl chrNW_004936487:14,513,290...14,587,902

G

nuclear receptor subfamily 3 group C member 1

disease_progression

NCBI chrNW_004936504:10,960,069...11,056,834
Ensembl chrNW_004936504:10,959,192...11,056,856

G

signal transducer and activator of transcription 6

severity
no_association

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

PMID:12900808 PMID:15687724 PMID:19011907

RGD:7244138 RGD:7244144 RGD:7244146

NCBI chrNW_004936646:1,297,530...1,312,508
Ensembl chrNW_004936646:1,296,290...1,312,157

nephrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensinogen

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936484:19,713,299...19,721,144
Ensembl chrNW_004936484:19,716,165...19,721,261

G

angiopoietin 1

mRNA, protein:decreased expression:glomerulus

NCBI chrNW_004936470:37,105,469...37,328,183
Ensembl chrNW_004936470:37,105,466...37,328,190

G

angiopoietin 2

mRNA:increased expression:kidney (rat)

PMID:18929864 PMID:18929866

RGD:2314177 RGD:2314178

NCBI chrNW_004936615:4,472,261...4,524,537
Ensembl chrNW_004936615:4,472,247...4,524,556

G

catalase

mRNA: decreased expression: glomerulus

NCBI chrNW_004936533:3,601,270...3,637,128
Ensembl chrNW_004936533:3,600,955...3,637,422

G

C-C motif chemokine ligand 1

NCBI chrNW_004936538:781,687...784,199
Ensembl chrNW_004936538:781,687...784,199

G

CD36 molecule (CD36 blood group)

NCBI chrNW_004936810:791,823...838,303
Ensembl chrNW_004936810:758,182...838,365

G

CD40 ligand

NCBI chrNW_004936513:10,607,617...10,620,403
Ensembl chrNW_004936513:10,607,617...10,620,403

G

CD59 molecule (CD59 blood group)

NCBI chrNW_004936533:4,242,589...4,263,136

G

C-X3-C motif chemokine ligand 1

NCBI chrNW_004936475:9,443,851...9,454,715
Ensembl chrNW_004936475:9,443,733...9,455,062

G

C-X3-C motif chemokine receptor 1

NCBI chrNW_004936473:28,508,726...28,535,640
Ensembl chrNW_004936473:28,510,523...28,535,627

G

DNA damage inducible transcript 3

Protein:increased expression:glomerulus, podocyte
CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936646:1,665,019...1,669,212

G

desmin

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936569:1,807,902...1,814,936
Ensembl chrNW_004936569:1,807,805...1,815,562

G

endothelin 1

CTD Direct Evidence: marker/mechanism
mRNA:increased expression:glomerulus (rat)

PMID:7756592 PMID:9175058

NCBI chrNW_004936534:885,489...892,292
Ensembl chrNW_004936534:885,287...891,772

G

endothelin receptor type B

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936511:3,446,864...3,478,434
Ensembl chrNW_004936511:3,446,839...3,478,434

G

coagulation factor II, thrombin

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936562:2,371,725...2,388,617
Ensembl chrNW_004936562:2,372,044...2,388,650

G

GATA binding protein 3

HDR Syndrome/Barakat Syndrome, OMIM:146255 DNA:point_mutation, deletion, deletion:CDS:Arg277Ter, 49bpDELnt465-513, 12bpDELnt946-957

NCBI chrNW_004936484:6,780,692...6,800,883
Ensembl chrNW_004936484:6,780,692...6,800,966

G

glutathione peroxidase 1

NCBI chrNW_004936529:997,943...999,123
Ensembl chrNW_004936529:998,150...998,987

G

hepatitis A virus cellular receptor 1

mRNA,protein:increased expression:kidney:

NCBI chrNW_004936515:6,030,402...6,051,161

G

heparanase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936738:1,308,350...1,341,421
Ensembl chrNW_004936738:1,308,345...1,343,145

G

intercellular adhesion molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936659:616,570...627,172
Ensembl chrNW_004936659:616,752...627,174

G

interleukin 1 beta

NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165

G

integrin subunit beta 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936778:1,286,475...1,311,184
Ensembl chrNW_004936778:1,286,341...1,311,194

G

laminin subunit beta 2

NCBI chrNW_004936529:826,178...841,304
Ensembl chrNW_004936529:826,142...841,337

G

angiotensin-converting enzyme

treatment

protein:increased activity:multiple (rats)
Adriamycin Nephrosis

PMID:8303709 PMID:8665777

RGD:12879388 RGD:8157608

NCBI chrNW_004936541:4,157,847...4,178,156
Ensembl chrNW_004936541:4,157,393...4,178,177

G

cholesterol side-chain cleavage enzyme, mitochondrial

mRNA:decreased expression

NCBI chrNW_004936471:33,367,810...33,380,764
Ensembl chrNW_004936471:33,367,810...33,380,764

G

25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial

NCBI chrNW_004936646:1,899,686...1,904,104
Ensembl chrNW_004936646:1,900,259...1,904,104

G

LDL receptor related protein 2

mRNA:decreased expression:glomerulus

NCBI chrNW_004936469:10,245,001...10,438,933
Ensembl chrNW_004936469:10,244,881...10,438,935

G

nestin

mRNA, protein:increased expression:glomerulus
CTD Direct Evidence: marker/mechanism

PMID:16418842 PMID:17637254

NCBI chrNW_004936580:5,837,949...5,847,499
Ensembl chrNW_004936580:5,837,936...5,847,020

G

NPHS2 stomatin family member, podocin

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936481:9,496,083...9,516,086
Ensembl chrNW_004936481:9,496,127...9,515,534

G

natriuretic peptide A

protein:increased expression:plasma

NCBI chrNW_004936474:671,362...673,610

G

natriuretic peptide B

protein:increased expression:plasma

NCBI chrNW_004936474:683,325...684,662
Ensembl chrNW_004936474:683,325...684,665

G

podoplanin

mRNA, protein:decreased expression:glomerulus

NCBI chrNW_004936474:1,751,159...1,779,011
Ensembl chrNW_004936474:1,750,944...1,781,156

G

protein tyrosine phosphatase receptor type U

mRNA, protein:decreased expression:glomerulus

NCBI chrNW_004936474:13,197,786...13,263,187
Ensembl chrNW_004936474:13,197,786...13,263,362

G

renin

CTD Direct Evidence: marker/mechanism

PMID:2046802 PMID:6358456

NCBI chrNW_004936567:598,044...607,628
Ensembl chrNW_004936567:598,048...607,497

G

superoxide dismutase 1

CTD Direct Evidence: therapeutic

NCBI chrNW_004936500:10,345,154...10,352,873
Ensembl chrNW_004936500:10,345,154...10,352,867

G

sterol regulatory element binding transcription factor 2

protein:altered localization:nucleus

NCBI chrNW_004936492:115,923...174,614
Ensembl chrNW_004936492:115,821...174,775

G

steroidogenic acute regulatory protein

mRNA:decreased expression:ovary

NCBI chrNW_004936710:1,523,289...1,530,181
Ensembl chrNW_004936710:1,523,355...1,529,672

G

vimentin

CTD Direct Evidence: marker/mechanism
mRNA,protein:increased expression:podocyte

NCBI chrNW_004936520:10,051,692...10,059,324
Ensembl chrNW_004936520:10,052,012...10,059,182

nephrotic syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acetyl-CoA acetyltransferase 1

protein:increased expression:kidney (rat)

NCBI chrNW_004936551:594,647...626,016
Ensembl chrNW_004936551:591,695...626,056

G

actinin alpha 4

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chrNW_004936801:1,333,077...1,402,885
Ensembl chrNW_004936801:1,333,077...1,404,054

G

alanine--glyoxylate and serine--pyruvate aminotransferase

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:10453743 PMID:15110324 PMID:15327387 PMID:15464418 PMID:17495019 More...

NCBI chrNW_004936745:856,915...867,477
Ensembl chrNW_004936745:857,102...867,477

G

ALMS1 centrosome and basal body associated protein

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chrNW_004936491:17,152,759...17,342,648

G

arachidonate 5-lipoxygenase

NCBI chrNW_004936554:7,807,914...7,848,691
Ensembl chrNW_004936554:7,808,355...7,867,931

G

anillin actin binding protein

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chrNW_004936478:11,873,676...11,934,425
Ensembl chrNW_004936478:11,880,103...11,933,247

G

apolipoprotein A1

NCBI chrNW_004936542:2,111,055...2,112,626
Ensembl chrNW_004936542:2,111,052...2,112,854

G

apolipoprotein B

protein:increased expression:serum (rat)

NCBI chrNW_004936493:10,509,118...10,549,144
Ensembl chrNW_004936493:10,509,118...10,549,144

G

apolipoprotein C2

protein:increased expression:serum

NCBI chrNW_004936706:1,531,219...1,531,921

G

apolipoprotein C3

protein:increased expression:serum

NCBI chrNW_004936542:2,106,927...2,108,412
Ensembl chrNW_004936542:2,106,318...2,108,603

G

apolipoprotein E

protein:increased expression:serum (human)

NCBI chrNW_004936706:1,512,438...1,516,805

G

Rho GTPase activating protein 24

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chrNW_004936896:57,250...213,918
Ensembl chrNW_004936896:145,297...214,794

G

Rho GDP dissociation inhibitor alpha

OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861

NCBI chrNW_004936594:5,383,370...5,386,618
Ensembl chrNW_004936594:5,383,380...5,386,494

G

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

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chrNW_004936586:1,782,581...1,809,458
Ensembl chrNW_004936586:1,782,528...1,810,010

G

axonemal dynein light chain domain containing 1

ClinVar Annotator: match by term: Nephrotic range proteinuria | ClinVar Annotator: match by term: Nephrotic syndrome

PMID:8589695 PMID:10742096 PMID:11805166 PMID:12464671 PMID:12707396 More...

NCBI chrNW_004936481:9,531,655...9,609,564

G

bone gamma-carboxyglutamate protein

protein:decreased expression:serum

NCBI chrNW_004936580:5,480,023...5,482,288
Ensembl chrNW_004936580:5,481,355...5,482,155

G

CD2 molecule

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936627:1,902,120...1,915,257
Ensembl chrNW_004936627:1,902,120...1,915,257

G

cyclin dependent kinase 20

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:29127259

NCBI chrNW_004936854:810,996...817,136
Ensembl chrNW_004936854:812,575...817,202

G

complement factor I

disease_progression

NCBI chrNW_004936563:960,883...998,136
Ensembl chrNW_004936563:960,883...988,634

G

cofilin 1

treatment

NCBI chrNW_004936599:3,678,724...3,682,314
Ensembl chrNW_004936599:3,677,804...3,682,307

G

chloride voltage-gated channel 5

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:15086899 PMID:15895257 PMID:19657328 PMID:22083641 PMID:23566014 More...

NCBI chrNW_004936721:1,552,312...1,602,360
Ensembl chrNW_004936721:1,445,779...1,596,814

G

component of oligomeric golgi complex 1

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:19008299 PMID:25741868 PMID:29127259

NCBI chrNW_004936655:1,020,363...1,032,847
Ensembl chrNW_004936655:1,017,169...1,032,816

G

collagen type I alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936490:11,448,552...11,465,836
Ensembl chrNW_004936490:11,448,654...11,464,444

G

collagen type IV alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936472:2,416,043...2,543,561
Ensembl chrNW_004936472:2,416,566...2,542,814

G

collagen type IV alpha 2 chain

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936472:2,270,836...2,416,324
Ensembl chrNW_004936472:2,270,819...2,416,349

G

collagen type IV alpha 3 chain

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:28492532 PMID:28844315 PMID:30828794 PMID:34113375

NCBI chrNW_004936525:8,642,744...8,774,975

G

collagen type IV alpha 4 chain

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:21196518 PMID:24854265 PMID:25307543 PMID:25741868 PMID:26467025 More...

NCBI chrNW_004936525:8,788,753...8,899,671
Ensembl chrNW_004936525:8,795,436...8,899,149

G

collagen type IV alpha 5 chain

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:7599631 PMID:7695699 PMID:8218237 PMID:9848783 PMID:15044104 More...

NCBI chrNW_004936499:6,143,736...6,360,565
Ensembl chrNW_004936499:6,144,857...6,360,368

G

coenzyme Q2, polyprenyltransferase

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:17855635 PMID:20495179 PMID:20689595 PMID:23349334 PMID:25349199 More...

NCBI chrNW_004936738:1,354,424...1,371,497

G

coenzyme Q8B

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:33532864

NCBI chrNW_004936661:2,989,164...3,008,955
Ensembl chrNW_004936661:2,989,162...3,006,289

G

carboxypeptidase B2

protein:increased activity,increased expression:plasma

NCBI chrNW_004936857:577,067...609,855
Ensembl chrNW_004936857:577,585...626,267

G

cystinosin, lysosomal cystine transporter

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:10556299 PMID:19580442 PMID:24464559 PMID:25741868 PMID:29127259

NCBI chrNW_004936677:342,964...360,890
Ensembl chrNW_004936677:343,042...360,879

G

cathepsin L

mRNA, protein:increased expression:glomerulus (rat)

NCBI chrNW_004936680:3,047,355...3,050,640

G

dopa decarboxylase

protein:decreased activity:renal cortex (rat)

NCBI chrNW_004936686:1,322,153...1,405,434
Ensembl chrNW_004936686:1,301,207...1,405,384

G

DEAD-box helicase 53

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chrNW_004936624:1,436,134...1,438,389

G

diacylglycerol O-acyltransferase 1

mRNA,protein:increased expression:liver:

NCBI chrNW_004936470:7,916,438...7,926,089
Ensembl chrNW_004936470:7,916,438...7,926,088

G

dehydrogenase E1 and transketolase domain containing 1

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:28492532 PMID:29127259

NCBI chrNW_004936484:3,207,650...3,251,661
Ensembl chrNW_004936484:3,208,198...3,251,896

G

endothelin converting enzyme 1

mRNA,protein:increased expression:kidney:

NCBI chrNW_004936474:7,034,134...7,083,005
Ensembl chrNW_004936474:7,034,134...7,083,005

G

endothelin 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936534:885,489...892,292
Ensembl chrNW_004936534:885,287...891,772

G

endothelin receptor type A

mRNA:increased expression:Glomerulus

NCBI chrNW_004936535:1,950,117...2,005,786
Ensembl chrNW_004936535:1,949,941...2,005,910

G

erythropoietin

treatment

NCBI chrNW_004936543:742,722...745,332
Ensembl chrNW_004936543:743,537...745,343

G

coagulation factor III, tissue factor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936537:4,637,028...4,647,915
Ensembl chrNW_004936537:4,636,667...4,647,916

G

FAT atypical cadherin 1

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:26905694 PMID:28492532

NCBI chrNW_004936554:2,872,729...2,996,821
Ensembl chrNW_004936554:2,872,713...2,996,823

G

fibronectin 1

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chrNW_004936586:1,708,803...1,773,372
Ensembl chrNW_004936586:1,708,684...1,773,383

G

galactosidase alpha

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chrNW_004936813:474,938...484,753
Ensembl chrNW_004936813:474,949...484,760

G

glycoprotein Ib platelet subunit alpha

protein: reduced expression: :

NCBI chrNW_004936677:2,774,076...2,779,660

G

glycerol-3-phosphate acyltransferase, mitochondrial

NCBI chrNW_004936486:2,754,753...2,823,600
Ensembl chrNW_004936486:2,754,751...2,823,665

G

glypican 5

CTD Direct Evidence: therapeutic

NCBI chrNW_004936472:17,492,183...17,708,067

G

glutathione peroxidase 1

mRNA:increased expression:kidney

NCBI chrNW_004936529:997,943...999,123
Ensembl chrNW_004936529:998,150...998,987

G

glutathione peroxidase 3

protein:decreased expression:plasma
mRNA:decreased expression:kidney

PMID:12824952 PMID:20685819

RGD:1625122 RGD:7205671

NCBI chrNW_004936647:3,904,787...3,914,223
Ensembl chrNW_004936647:3,906,113...3,913,498

G

glutathione peroxidase 4

mRNA:decreased expression:kidney

NCBI chrNW_004936588:506,101...508,469
Ensembl chrNW_004936588:506,147...508,101

G

guanylate cyclase activator 2B

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936474:23,632,836...23,634,330
Ensembl chrNW_004936474:23,632,781...23,634,496

G

hydroxysteroid 11-beta dehydrogenase 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936475:17,882,663...17,888,708
Ensembl chrNW_004936475:17,882,575...17,887,748

G

insulin like growth factor binding protein acid labile subunit

NCBI chrNW_004936694:2,205,294...2,207,343
Ensembl chrNW_004936694:2,204,182...2,207,328

G

interleukin 1 beta

severity

associated with Purpura, Schoenlein-Henoch; DNA:snp:promoter:g.-511C>T (human)
protein:increased expression:serum (human)

PMID:14760799 PMID:21103916 PMID:21359962

RGD:7175324 RGD:7175337 RGD:7175339

NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165

G

interleukin 1 receptor antagonist

DNA:repeats:intron:IVS2+914_1000dup IL1RN*1, IL1RN*2 (human)

NCBI chrNW_004936783:1,447,158...1,466,331
Ensembl chrNW_004936783:1,447,106...1,466,340

G

interleukin 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936662:1,594,953...1,599,625
Ensembl chrNW_004936662:1,594,953...1,599,625

G

interleukin 5

NCBI chrNW_004936647:2,647,982...2,651,477
Ensembl chrNW_004936647:2,648,241...2,651,430

G

inverted formin 2

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:28492532 PMID:29127259

NCBI chrNW_004936621:677,548...693,609
Ensembl chrNW_004936621:682,027...693,605

G

integrin subunit alpha 3

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:22512483 PMID:29127259

NCBI chrNW_004936490:11,553,904...11,583,387
Ensembl chrNW_004936490:11,553,861...11,583,380

G

integrin subunit beta 4

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:28492532

NCBI chrNW_004936594:912,302...944,819
Ensembl chrNW_004936594:912,291...946,012

G

intersectin 1

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:29773874

NCBI chrNW_004936500:8,490,514...8,678,127
Ensembl chrNW_004936500:8,468,940...8,612,942

G

intersectin 2

NCBI chrNW_004936493:7,716,424...7,842,818
Ensembl chrNW_004936493:7,738,630...7,842,814

G

Janus kinase 2

NCBI chrNW_004936503:111,722...243,627
Ensembl chrNW_004936503:110,963...241,867

G

potassium inwardly rectifying channel subfamily J member 1

NCBI chrNW_004936572:3,396,329...3,425,848
Ensembl chrNW_004936572:3,421,557...3,425,276

G

kirre like nephrin family adhesion molecule 2

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:11317351 PMID:11854170 PMID:12039988 PMID:18503012 PMID:20507940 More...

NCBI chrNW_004936570:485,202...493,350
Ensembl chrNW_004936570:486,249...493,356

G

laminin subunit alpha 5

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:23999528 PMID:24130771 PMID:25741868 PMID:26553438 PMID:28492532 More...

NCBI chrNW_004936514:9,928,234...9,973,425
Ensembl chrNW_004936514:9,928,316...9,973,349

G

laminin subunit beta 2

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:2206901 PMID:9536098 PMID:15367484 PMID:17576681 PMID:18672223 More...

NCBI chrNW_004936529:826,178...841,304
Ensembl chrNW_004936529:826,142...841,337

G

lipase C, hepatic type

protein, mRNA:reduced expression:liver (rat)

NCBI chrNW_004936471:19,604,083...19,733,721
Ensembl chrNW_004936471:19,703,236...19,733,686

G

LIM homeobox transcription factor 1 beta

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:23687361 PMID:24042019 PMID:25741868 PMID:26560070 PMID:28059119 More...

NCBI chrNW_004936487:14,513,303...14,587,771
Ensembl chrNW_004936487:14,513,290...14,587,902

G

alpha-2-macroglobulin

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

PMID:9453001 PMID:11304663

NCBI chrNW_004936870:424,832...468,303
Ensembl chrNW_004936870:424,951...468,167

G

angiotensin-converting enzyme

treatment

protein:increased activity:multiple

PMID:2175683 PMID:15942045

RGD:11038913 RGD:1598707

NCBI chrNW_004936541:4,157,847...4,178,156
Ensembl chrNW_004936541:4,157,393...4,178,177

G

serotransferrin

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936529:6,917,762...6,947,512
Ensembl chrNW_004936529:6,855,958...6,947,394

G

mitochondrial inner membrane protein MPV17

OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861

NCBI chrNW_004936493:5,246,803...5,258,147
Ensembl chrNW_004936493:5,248,059...5,258,147

G

matrix remodeling associated 5

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chrNW_004936644:2,502,334...2,528,278

G

myosin heavy chain 9

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chrNW_004936492:4,384,215...4,466,229
Ensembl chrNW_004936492:4,384,215...4,466,262

G

myosin IE

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:29127259

NCBI chrNW_004936471:20,244,424...20,435,604
Ensembl chrNW_004936471:20,244,397...20,435,648

G

NCK adaptor protein 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936529:9,647,161...9,718,512
Ensembl chrNW_004936529:9,701,530...9,721,869

G

NCK adaptor protein 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936764:141,159...185,482
Ensembl chrNW_004936764:140,946...185,529

G

NFKB inhibitor alpha

exacerbates

protein:decreased expression:peripheral blood mononuclear cell (human)

NCBI chrNW_004936494:9,537,793...9,541,187
Ensembl chrNW_004936494:9,537,008...9,541,612

G

NOC3 like DNA replication regulator

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chrNW_004936601:782,923...811,598
Ensembl chrNW_004936601:782,901...816,185

G

nitric oxide synthase 1

protein:decreased expression:kidney

NCBI chrNW_004936558:5,162,471...5,302,488
Ensembl chrNW_004936558:5,233,459...5,301,414

G

NPHS1 adhesion molecule, nephrin

treatment

OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861
mRNA,protein:decreased expression:podocyte (mouse)

PMID:15942045 PMID:22493483

RGD:1598707 RGD:38599005

NCBI chrNW_004936570:495,421...514,179
Ensembl chrNW_004936570:494,971...513,874

G

NPHS2 stomatin family member, podocin

treatment

ClinVar Annotator: match by term: Nephrotic range proteinuria | ClinVar Annotator: match by term: Nephrotic syndrome

PMID:8589695 PMID:10742096 PMID:11729243 PMID:11805166 PMID:11854170 More...

NCBI chrNW_004936481:9,496,083...9,516,086
Ensembl chrNW_004936481:9,496,127...9,515,534

G

nuclear receptor subfamily 3 group C member 1

treatment

NCBI chrNW_004936504:10,960,069...11,056,834
Ensembl chrNW_004936504:10,959,192...11,056,856

G

nucleoporin 93

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:26878725 PMID:28492532 PMID:29127259 PMID:30655312 More...

NCBI chrNW_004936475:8,930,320...9,027,840
Ensembl chrNW_004936475:8,930,314...9,032,287

G

O-sialoglycoprotein endopeptidase

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:11519896 PMID:15966048 PMID:18019379 PMID:21791310 PMID:25741868 More...

NCBI chrNW_004936877:659,881...666,169
Ensembl chrNW_004936877:659,874...666,026

G

paired box 2

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chrNW_004936600:4,850,594...4,939,010
Ensembl chrNW_004936600:4,850,552...4,928,214

G

decaprenyl diphosphate synthase subunit 2

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:17186472 PMID:17374725 PMID:19096106 PMID:20689595 PMID:23816342 More...

NCBI chrNW_004936564:3,529,140...3,813,449
Ensembl chrNW_004936564:3,583,396...3,813,155

G

phospholipase A2 group VII

protein:increased activity:plasma

PMID:8692015 PMID:15292677

RGD:7248795 RGD:7257517

NCBI chrNW_004936476:13,609,847...13,646,174
Ensembl chrNW_004936476:13,609,374...13,649,998

G

phospholipase C epsilon 1

onset

DNA:mutations: :
ClinVar Annotator: match by term: Nephrotic syndrome

PMID:17086182 PMID:25741868 PMID:28492532 PMID:29127259

NCBI chrNW_004936601:817,151...1,105,824
Ensembl chrNW_004936601:816,190...1,105,830

G

podocalyxin like

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:29244787 PMID:30523047

NCBI chrNW_004936579:3,960,338...3,970,925

G

PPARG coactivator 1 alpha

protein:decreased expression:kidney cortex (rat)

NCBI chrNW_004936477:4,881,230...5,488,208
Ensembl chrNW_004936477:5,199,881...5,488,226

G

prostaglandin-endoperoxide synthase 2

NCBI chrNW_004936481:3,821,564...3,828,086

G

renin

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chrNW_004936567:598,044...607,628
Ensembl chrNW_004936567:598,048...607,497

G

RUNX family transcription factor 2

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chrNW_004936476:14,695,965...14,818,246
Ensembl chrNW_004936476:14,695,965...14,905,157

G

sodium channel epithelial 1 subunit alpha

NCBI chrNW_004936709:1,377,852...1,403,398
Ensembl chrNW_004936709:1,377,831...1,403,833

G

sodium channel epithelial 1 subunit beta

NCBI chrNW_004936501:8,021,090...8,065,245
Ensembl chrNW_004936501:8,020,316...8,065,332

G

serpin family C member 1

disease_progression

CTD Direct Evidence: marker/mechanism

PMID:7532794 PMID:8979144 PMID:11304663

RGD:11035294 RGD:11038563

NCBI chrNW_004936481:13,981,014...13,993,750
Ensembl chrNW_004936481:13,981,019...13,993,634

G

serpin family E member 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936543:1,032,543...1,040,956
Ensembl chrNW_004936543:1,032,794...1,039,123

G

sphingosine-1-phosphate lyase 1

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:23232022 PMID:25741868 PMID:28165339 PMID:28165343 PMID:28492532 More...

NCBI chrNW_004936521:7,850,370...7,899,998
Ensembl chrNW_004936521:7,848,972...7,900,041

G

solute carrier family 35 member F1

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chrNW_004936658:851,751...1,238,263
Ensembl chrNW_004936658:1,076,196...1,238,276

G

SMAD family member 1

NCBI chrNW_004936535:3,582,512...3,626,312
Ensembl chrNW_004936535:3,582,489...3,657,063

G

SNF2 related chromatin remodeling annealing helicase 1

ClinVar Annotator: match by term: Nephrotic syndrome

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

NCBI chrNW_004936586:828,661...887,988
Ensembl chrNW_004936586:828,650...888,047

G

sterol O-acyltransferase 2

mRNA, protein:increased expression:liver

NCBI chrNW_004936512:10,420,847...10,430,813
Ensembl chrNW_004936512:10,420,804...10,430,881

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781

G

synaptopodin

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:33615071

NCBI chrNW_004936504:4,321,985...4,358,757
Ensembl chrNW_004936504:4,321,962...4,358,294

G

TBC1 domain family member 8B

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:31732614

NCBI chrNW_004936499:7,876,238...7,946,054
Ensembl chrNW_004936499:7,876,230...7,946,068

G

tissue factor pathway inhibitor

protein:increased expression:plasma

NCBI chrNW_004936506:10,103,120...10,172,800
Ensembl chrNW_004936506:10,103,139...10,171,863

G

transforming growth factor beta 1

CTD Direct Evidence: marker/mechanism

PMID:1281619 PMID:8023968 PMID:10515446

NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272

G

TNF receptor superfamily member 11b

protein:decreased expression:serum

NCBI chrNW_004936470:27,571,263...27,598,725
Ensembl chrNW_004936470:27,571,270...27,599,089

G

tensin 2

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:28492532 PMID:29773874

NCBI chrNW_004936512:10,376,442...10,390,421
Ensembl chrNW_004936512:10,371,684...10,393,156

G

TP53RK binding protein

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:28805828 PMID:29127259

NCBI chrNW_004936491:17,493,630...17,500,779
Ensembl chrNW_004936491:17,493,285...17,500,523

G

transient receptor potential cation channel subfamily C member 6

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:15924139 PMID:19129465 PMID:21734084 PMID:23645677 PMID:25741868 More...

NCBI chrNW_004936551:6,173,588...6,282,971
Ensembl chrNW_004936551:6,174,122...6,282,925

G

tetratricopeptide repeat domain 21B

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 More...

NCBI chrNW_004936469:13,365,168...13,454,340
Ensembl chrNW_004936469:13,365,087...13,454,340

G

very low density lipoprotein receptor

protein:decreased expression:heart, skeletal muscle (rat)

NCBI chrNW_004936503:2,407,040...2,440,366
Ensembl chrNW_004936503:2,405,689...2,440,502

G

WD repeat domain 73

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:16217710 PMID:25741868 PMID:25873735 PMID:26123727 PMID:27001912 More...

NCBI chrNW_004936483:16,698,878...16,711,510
Ensembl chrNW_004936483:16,697,086...16,711,518

G

WT1 transcription factor

ClinVar Annotator: match by term: Nephrotic range proteinuria | ClinVar Annotator: match by term: Nephrotic syndrome

PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More...

NCBI chrNW_004936533:5,411,949...5,459,693
Ensembl chrNW_004936533:5,411,848...5,459,693

nephrotic syndrome type 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 6

ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome

PMID:12384774 PMID:25741868 PMID:28492532

NCBI chrNW_004936501:3,469,928...3,508,577

G

ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase

ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome

PMID:2296603 PMID:14709599 PMID:14973778 PMID:14973782 PMID:20679665 More...

NCBI chrNW_004936530:4,948,130...4,957,306

G

Rho GDP dissociation inhibitor alpha

ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome

NCBI chrNW_004936594:5,383,370...5,386,618
Ensembl chrNW_004936594:5,383,380...5,386,494

G

axonemal dynein light chain domain containing 1

ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome | ClinVar Annotator: match by term: Idiopathic nephrotic syndrome

PMID:11805166 PMID:12464671 PMID:12707396 PMID:14978175 PMID:15253708 More...

NCBI chrNW_004936481:9,531,655...9,609,564

G

FAT atypical cadherin 1

ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome

NCBI chrNW_004936554:2,872,729...2,996,821
Ensembl chrNW_004936554:2,872,713...2,996,823

G

kirre like nephrin family adhesion molecule 2

ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 | ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome | ClinVar Annotator: match by term: NPHS1-related condition

PMID:9660941 PMID:9915943 PMID:11317351 PMID:11854170 PMID:12039988 More...

NCBI chrNW_004936570:485,202...493,350
Ensembl chrNW_004936570:486,249...493,356

G

eotaxin

NCBI chrNW_004936538:835,436...848,907
Ensembl chrNW_004936538:835,859...837,710
Ensembl chrNW_004936538:835,859...837,710

G

NPHS1 adhesion molecule, nephrin

DNA:mutations:multiple (human)

NCBI chrNW_004936570:495,421...514,179
Ensembl chrNW_004936570:494,971...513,874

G

NPHS2 stomatin family member, podocin

ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 | ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome | ClinVar Annotator: match by term: Idiopathic nephrotic syndrome

PMID:8589695 PMID:10742096 PMID:11729243 PMID:11805166 PMID:11805168 More...

NCBI chrNW_004936481:9,496,083...9,516,086
Ensembl chrNW_004936481:9,496,127...9,515,534

G

phospholipase C epsilon 1

ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome

NCBI chrNW_004936601:817,151...1,105,824
Ensembl chrNW_004936601:816,190...1,105,830

G

protein S

ClinVar Annotator: match by term: Congenital nephrotic syndrome 1

PMID:11127877 PMID:11858485 PMID:20880255 PMID:24014240 PMID:24055113 More...

NCBI chrNW_004936666:18,303...110,357
Ensembl chrNW_004936666:19,387...110,014

G

serine peptidase inhibitor Kazal type 1

ClinVar Annotator: match by term: Congenital nephrotic syndrome 1

PMID:10691414 PMID:10835640 PMID:11950815 PMID:12011155 PMID:12187509 More...

NCBI chrNW_004936504:6,975,044...6,981,304
Ensembl chrNW_004936504:6,975,044...6,981,304

G

tetratricopeptide repeat domain 21B

ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome

PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 More...

NCBI chrNW_004936469:13,365,168...13,454,340
Ensembl chrNW_004936469:13,365,087...13,454,340

G

WT1 transcription factor

ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome

PMID:22099579 PMID:25741868 PMID:27719739

NCBI chrNW_004936533:5,411,949...5,459,693
Ensembl chrNW_004936533:5,411,848...5,459,693

nephrotic syndrome type 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

epithelial membrane protein 2

ClinVar Annotator: match by term: EMP2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 10

PMID:24814193 PMID:25741868 PMID:28106320 PMID:28492532

NCBI chrNW_004936530:8,854,266...8,862,127
Ensembl chrNW_004936530:8,854,203...8,862,126

nephrotic syndrome type 11

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nucleoporin 107

ClinVar Annotator: match by term: Nephrotic syndrome, type 11

PMID:25741868 PMID:26411495 PMID:28492532 PMID:30179222

NCBI chrNW_004936545:6,600,124...6,642,839
Ensembl chrNW_004936545:6,600,088...6,642,870

nephrotic syndrome type 12

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein 7

ClinVar Annotator: match by term: Nephrotic syndrome, type 12

NCBI chrNW_004936530:71,965...143,940
Ensembl chrNW_004936530:71,920...143,940

G

nucleoporin 93

ClinVar Annotator: match by term: NUP93-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 12

PMID:25741868 PMID:26878725 PMID:28492532 PMID:29127259 PMID:33532864

NCBI chrNW_004936475:8,930,320...9,027,840
Ensembl chrNW_004936475:8,930,314...9,032,287

nephrotic syndrome type 13

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nucleoporin 205

ClinVar Annotator: match by term: NUP205-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 13

PMID:25741868 PMID:26878725 PMID:28492532

NCBI chrNW_004936592:363,723...431,966
Ensembl chrNW_004936592:363,748...431,986

nephrotic syndrome type 14

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sphingosine-1-phosphate lyase 1

ClinVar Annotator: match by term: Nephrotic syndrome 14 | ClinVar Annotator: match by term: SGPL1-related condition

PMID:23232022 PMID:24777844 PMID:25741868 PMID:28165339 PMID:28165343 More...

NCBI chrNW_004936521:7,850,370...7,899,998
Ensembl chrNW_004936521:7,848,972...7,900,041

nephrotic syndrome type 15

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

membrane associated guanylate kinase, WW and PDZ domain containing 2

ClinVar Annotator: match by term: MAGI2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome 15

PMID:18414213 PMID:25741868 PMID:26467025 PMID:27932480 PMID:28492532 More...

NCBI chrNW_004936479:21,373,917...22,062,498
Ensembl chrNW_004936479:21,373,746...21,920,214

nephrotic syndrome type 16

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KN motif and ankyrin repeat domains 2

ClinVar Annotator: match by term: KANK2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome 16

PMID:25741868 PMID:25961457 PMID:28492532

NCBI chrNW_004936659:1,320,169...1,340,137
Ensembl chrNW_004936659:1,321,980...1,337,746

nephrotic syndrome type 17

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

golgi associated, gamma adaptin ear containing, ARF binding protein 3

ClinVar Annotator: match by term: Nephrotic syndrome, type 17

PMID:25741868 PMID:30179222

NCBI chrNW_004936594:531,844...548,487
Ensembl chrNW_004936594:532,342...548,440

G

nucleoporin 85

ClinVar Annotator: match by term: NUP85-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 17

PMID:25741868 PMID:28492532 PMID:30179222

NCBI chrNW_004936594:503,698...531,851
Ensembl chrNW_004936594:503,720...531,875

nephrotic syndrome type 18

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nucleoporin 133

ClinVar Annotator: match by term: Nephrotic syndrome, type 18

PMID:25741868 PMID:28492532 PMID:30179222

NCBI chrNW_004936484:20,185,558...20,230,904
Ensembl chrNW_004936484:20,185,584...20,231,352

nephrotic syndrome type 19

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nucleoporin 160

ClinVar Annotator: match by term: NUP160-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 19

PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30179222

NCBI chrNW_004936562:1,435,938...1,491,439
Ensembl chrNW_004936562:1,435,973...1,490,890

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

NCBI chrNW_004936662:926,302...959,964
Ensembl chrNW_004936662:925,940...939,451

G

advillin

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

PMID:25741868 PMID:29058690

NCBI chrNW_004936646:1,930,447...1,952,069
Ensembl chrNW_004936646:1,930,656...1,948,991

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 chrNW_004936481:9,531,655...9,609,564

G

collagen type IV alpha 3 chain

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

NCBI chrNW_004936525:8,642,744...8,774,975

G

collagen type IV alpha 4 chain

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

PMID:25741868 PMID:28492532

NCBI chrNW_004936525:8,788,753...8,899,671
Ensembl chrNW_004936525:8,795,436...8,899,149

G

collagen type IV alpha 5 chain

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

NCBI chrNW_004936499:6,143,736...6,360,565
Ensembl chrNW_004936499:6,144,857...6,360,368

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 chrNW_004936487:11,793,078...11,813,803
Ensembl chrNW_004936487:11,793,005...11,812,934

G

FAT atypical cadherin 1

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

PMID:25615407 PMID:25741868 PMID:26905694 PMID:30862798

NCBI chrNW_004936554:2,872,729...2,996,821
Ensembl chrNW_004936554:2,872,713...2,996,823

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

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

NCBI chrNW_004936481:9,496,083...9,516,086
Ensembl chrNW_004936481:9,496,127...9,515,534

G

nuclear receptor subfamily 3 group C member 1

mRNA:alternative form:blood, mononuclear cell

NCBI chrNW_004936504:10,960,069...11,056,834
Ensembl chrNW_004936504:10,959,192...11,056,856

G

nucleoporin 205

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936592:363,723...431,966
Ensembl chrNW_004936592:363,748...431,986

G

nucleoporin 93

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936475:8,930,320...9,027,840
Ensembl chrNW_004936475:8,930,314...9,032,287

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 chrNW_004936600:4,850,594...4,939,010
Ensembl chrNW_004936600:4,850,552...4,928,214

G

phospholipase A2 group VII

disease_progression

NCBI chrNW_004936476:13,609,847...13,646,174
Ensembl chrNW_004936476:13,609,374...13,649,998

G

phospholipase C epsilon 1

DNA:mutations: :

NCBI chrNW_004936601:817,151...1,105,824
Ensembl chrNW_004936601:816,190...1,105,830

G

SNF2 related chromatin remodeling annealing helicase 1

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

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

NCBI chrNW_004936586:828,661...887,988
Ensembl chrNW_004936586:828,650...888,047

G

transient receptor potential cation channel subfamily C member 6

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

NCBI chrNW_004936551:6,173,588...6,282,971
Ensembl chrNW_004936551:6,174,122...6,282,925

G

Ts translation elongation factor, mitochondrial

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

PMID:25741868 PMID:29058690

NCBI chrNW_004936646:1,919,326...1,936,694
Ensembl chrNW_004936646:1,908,304...1,930,287

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 chrNW_004936533:5,411,949...5,459,693
Ensembl chrNW_004936533:5,411,848...5,459,693

G

exportin 5

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936476:16,434,629...16,481,044
Ensembl chrNW_004936476:16,434,638...16,481,044

nephrotic syndrome type 20

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TBC1 domain family member 8B

ClinVar Annotator: match by term: Nephrotic syndrome, type 20 | ClinVar Annotator: match by term: TBC1D8B-related condition

PMID:25741868 PMID:28492532 PMID:30661770 PMID:31732614

NCBI chrNW_004936499:7,876,238...7,946,054
Ensembl chrNW_004936499:7,876,230...7,946,068

nephrotic syndrome type 21

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

advillin

ClinVar Annotator: match by term: AVIL-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 21

PMID:25741868 PMID:29058690

NCBI chrNW_004936646:1,930,447...1,952,069
Ensembl chrNW_004936646:1,930,656...1,948,991

G

Ts translation elongation factor, mitochondrial

ClinVar Annotator: match by term: Nephrotic syndrome, type 21

PMID:25741868 PMID:29058690

NCBI chrNW_004936646:1,919,326...1,936,694
Ensembl chrNW_004936646:1,908,304...1,930,287

nephrotic syndrome type 23

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kirre like nephrin family adhesion molecule 1

ClinVar Annotator: match by term: KIRREL1-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 23

PMID:25741868 PMID:31472902

NCBI chrNW_004936847:820,538...844,829
Ensembl chrNW_004936847:821,479...841,988

Nephrotic Syndrome Type 24

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dishevelled associated activator of morphogenesis 2

ClinVar Annotator: match by term: DAAM2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 24

PMID:25741868 PMID:28492532 PMID:33232676

NCBI chrNW_004936476:19,771,204...19,878,462
Ensembl chrNW_004936476:19,771,204...19,815,657

Nephrotic Syndrome Type 26

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

laminin subunit alpha 5

ClinVar Annotator: match by term: LAMA5-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 26

PMID:24130771 PMID:25741868 PMID:28492532 PMID:28735299 PMID:29534211 More...

NCBI chrNW_004936514:9,928,234...9,973,425
Ensembl chrNW_004936514:9,928,316...9,973,349

nephrotic syndrome type 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NOC3 like DNA replication regulator

ClinVar Annotator: match by term: Nephrotic syndrome, type 3 | ClinVar Annotator: match by term: PLCE1-related condition

PMID:17086182 PMID:18975016 PMID:20591883 PMID:23595123 PMID:24130771 More...

NCBI chrNW_004936601:782,923...811,598
Ensembl chrNW_004936601:782,901...816,185

G

phospholipase C epsilon 1

ClinVar Annotator: match by term: NEPHROTIC SYNDROME, EARLY-ONSET, TYPE 3 | ClinVar Annotator: match by term: Nephrotic syndrome, type 3 | ClinVar Annotator: match by term: PLCE1-related condition

PMID:17086182 PMID:18709391 PMID:18975016 PMID:20507940 PMID:20591883 More...

NCBI chrNW_004936601:817,151...1,105,824
Ensembl chrNW_004936601:816,190...1,105,830

nephrotic syndrome type 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

WT1 transcription factor

ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 4 | ClinVar Annotator: match by term: Nephrotic syndrome, type 4

PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More...

NCBI chrNW_004936533:5,411,949...5,459,693
Ensembl chrNW_004936533:5,411,848...5,459,693

nephrotic syndrome type 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cystathionine beta-synthase

ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities

PMID:8353501 PMID:16479318 PMID:22267502 PMID:24211323 PMID:25218699 More...

NCBI chrNW_004936500:976,043...1,003,559
Ensembl chrNW_004936500:987,128...1,003,388

G

laminin subunit beta 2

ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities

PMID:2206901 PMID:7885444 PMID:9536098 PMID:14136829 PMID:15367484 More...

NCBI chrNW_004936529:826,178...841,304
Ensembl chrNW_004936529:826,142...841,337

G

protein phosphatase 2 regulatory subunit B'delta

ClinVar Annotator: match by term: Mesangial sclerosis, diffuse renal, with ocular abnormalities

PMID:25741868 PMID:30676711 PMID:32295525

NCBI chrNW_004936476:16,922,204...16,945,400
Ensembl chrNW_004936476:16,923,254...16,941,430

G

serpin family A member 10

ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities

PMID:15461625 PMID:18710385 PMID:22039093 PMID:23352160 PMID:25741868

NCBI chrNW_004936733:2,121,875...2,129,988

nephrotic syndrome type 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein tyrosine phosphatase receptor type O

ClinVar Annotator: match by term: Nephrotic syndrome, type 6 | ClinVar Annotator: match by term: PTPRO-related condition

PMID:21722858 PMID:25741868 PMID:28492532

NCBI chrNW_004936587:1,967,079...2,188,651
Ensembl chrNW_004936587:1,964,665...2,188,672

nephrotic syndrome type 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Rho GDP dissociation inhibitor alpha

ClinVar Annotator: match by term: ARHGDIA-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 8

PMID:23867502 PMID:25741868 PMID:28492532

NCBI chrNW_004936594:5,383,370...5,386,618
Ensembl chrNW_004936594:5,383,380...5,386,494

nephrotic syndrome type 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coenzyme Q8B

ClinVar Annotator: match by term: COQ8B-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 9

PMID:9536098 PMID:17576681 PMID:24270420 PMID:25741868 PMID:28204945 More...

NCBI chrNW_004936661:2,989,164...3,008,955
Ensembl chrNW_004936661:2,989,162...3,006,289

paroxysmal nocturnal hemoglobinuria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement C3

protein:increased processing:erythrocyte

NCBI chrNW_004936588:3,985,732...4,023,221

G

complement C5

ClinVar Annotator: match by term: Eculizumab, poor response to

PMID:7730648 PMID:19414197 PMID:23371790 PMID:24521109 PMID:25534848 More...

NCBI chrNW_004936487:9,391,774...9,474,168
Ensembl chrNW_004936487:9,391,804...9,474,159

G

C-X-C motif chemokine receptor 4

treatment

NCBI chrNW_004936469:39,794,613...39,798,448
Ensembl chrNW_004936469:39,794,584...39,798,459

G

phosphatidylinositol glycan anchor biosynthesis class A

ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria

PMID:8167330 PMID:8500164 PMID:8541558 PMID:8557259 PMID:9019395 More...

NCBI chrNW_004936470:4,730,955...4,746,958
Ensembl chrNW_004936470:4,730,961...4,746,985

G

phosphatidylinositol glycan anchor biosynthesis class T

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936514:7,471,134...7,481,183
Ensembl chrNW_004936514:7,470,922...7,481,199

Paroxysmal Nocturnal Hemoglobinuria 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphatidylinositol glycan anchor biosynthesis class A

ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1

PMID:2915993 PMID:25741868 PMID:28492532 PMID:29159939 PMID:31704190 More...

NCBI chrNW_004936470:4,730,955...4,746,958
Ensembl chrNW_004936470:4,730,961...4,746,985

G

phosphatidylinositol glycan anchor biosynthesis class T

ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1

NCBI chrNW_004936514:7,471,134...7,481,183
Ensembl chrNW_004936514:7,470,922...7,481,199

Paroxysmal Nocturnal Hemoglobinuria 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphatidylinositol glycan anchor biosynthesis class T

ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 2

PMID:23733340 PMID:25741868 PMID:28492532

NCBI chrNW_004936514:7,471,134...7,481,183
Ensembl chrNW_004936514:7,470,922...7,481,199

Pierson syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aminomethyltransferase

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chrNW_004936529:1,049,364...1,054,458

G

coiled-coil domain containing 71

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chrNW_004936529:857,932...862,976
Ensembl chrNW_004936529:859,274...860,656

G

ciliary microtubule inner protein 7

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chrNW_004936529:872,150...884,123
Ensembl chrNW_004936529:872,837...884,879

G

chromosome unknown C3orf62 homolog

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chrNW_004936529:934,641...940,858
Ensembl chrNW_004936529:936,848...940,367

G

dystroglycan 1

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chrNW_004936529:1,099,510...1,171,587
Ensembl chrNW_004936529:1,099,647...1,173,124

G

dicer 1, ribonuclease III

ClinVar Annotator: match by term: Pierson syndrome

PMID:19556464 PMID:21266384 PMID:24839956 PMID:25741868 PMID:26925222 More...

NCBI chrNW_004936846:528,768...584,599
Ensembl chrNW_004936846:532,972...575,689

G

glutathione peroxidase 1

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chrNW_004936529:997,943...999,123
Ensembl chrNW_004936529:998,150...998,987

G

interactor of HORMAD1 1

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chrNW_004936529:905,692...929,896
Ensembl chrNW_004936529:889,423...929,929

G

kelch domain containing 8B

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chrNW_004936529:863,052...872,067
Ensembl chrNW_004936529:863,045...872,289

G

laminin subunit beta 2

ClinVar Annotator: match by term: Pierson syndrome
ClinVar Annotator: match by term: MICROCORIA-CONGENITAL NEPHROTIC SYNDROME | ClinVar Annotator: match by term: Pierson syndrome

PMID:2206901 PMID:9536098 PMID:14136829 PMID:15367484 PMID:15372515 More...

NCBI chrNW_004936529:826,178...841,304
Ensembl chrNW_004936529:826,142...841,337

G

nicolin 1, tubulin polyglutamylase complex subunit

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chrNW_004936529:1,054,568...1,059,575
Ensembl chrNW_004936529:1,052,090...1,059,617

G

ras homolog family member A

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chrNW_004936529:1,000,050...1,045,655
Ensembl chrNW_004936529:999,935...1,045,681

G

T cell leukemia translocation altered

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chrNW_004936529:1,045,735...1,047,922
Ensembl chrNW_004936529:1,045,798...1,050,384

G

tensin 2

OMIM:609049

NCBI chrNW_004936512:10,376,442...10,390,421
Ensembl chrNW_004936512:10,371,684...10,393,156

G

ubiquitin specific peptidase 4

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chrNW_004936529:941,042...989,781
Ensembl chrNW_004936529:938,501...989,884

Puromycin Aminonucleoside Nephrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aminocarboxymuconate semialdehyde decarboxylase

NCBI chrNW_004936469:40,858,338...40,904,807
Ensembl chrNW_004936469:40,858,338...40,904,807

G

actin related protein 2

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

NCBI chrNW_004936491:9,980,228...10,021,417
Ensembl chrNW_004936491:9,979,427...10,022,043

G

angiotensinogen

NCBI chrNW_004936484:19,713,299...19,721,144
Ensembl chrNW_004936484:19,716,165...19,721,261

G

apolipoprotein E

NCBI chrNW_004936706:1,512,438...1,516,805

G

BAR/IMD domain containing adaptor protein 2

protein:increased expression:glomerular visceral epithelial cell

NCBI chrNW_004936594:4,797,068...4,863,409
Ensembl chrNW_004936594:4,797,018...4,865,327

G

Fas cell surface death receptor

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

NCBI chrNW_004936735:209,369...234,582

G

angiotensin-converting enzyme

treatment

NCBI chrNW_004936541:4,157,847...4,178,156
Ensembl chrNW_004936541:4,157,393...4,178,177

G

matrix metallopeptidase 2

mRNA:increased expression:renal glomerulus (rat)

NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851

G

NPHS1 adhesion molecule, nephrin

mRNA, protein:altered expression:glomerulus (rat)

NCBI chrNW_004936570:495,421...514,179
Ensembl chrNW_004936570:494,971...513,874

G

p21 (RAC1) activated kinase 2

NCBI chrNW_004936784:1,351,034...1,391,992
Ensembl chrNW_004936784:1,351,039...1,391,992

G

renin

NCBI chrNW_004936567:598,044...607,628
Ensembl chrNW_004936567:598,048...607,497

G

xanthine dehydrogenase

treatment

NCBI chrNW_004936493:1,762,814...1,824,501
Ensembl chrNW_004936493:1,762,869...1,823,238

Schimke immuno-osseous dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SNF2 related chromatin remodeling annealing helicase 1

ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia

PMID:9536098 PMID:11799392 PMID:12471207 PMID:15523612 PMID:15880370 More...

NCBI chrNW_004936586:828,661...887,988
Ensembl chrNW_004936586:828,650...888,047

Term paths to the root

Path 1
Term	Annotations
disease	14622
Pathological Conditions, Signs and Symptoms	11553
Signs and Symptoms	9724
Urological Manifestations	389
proteinuria	362
Albuminuria	59
Chronic Benign Proteinuria	1
Donnai-Barrow syndrome	2
Imerslund-Grasbeck Syndrome +	12
hemoglobinuria +	6
nephrosis +	277
Path 2
Term	Annotations
disease	14622
disease of anatomical entity	14327
Urogenital Diseases	4648
urinary system disease	2284
kidney disease	2062
proteinuria	362
Albuminuria	59
Chronic Benign Proteinuria	1
Donnai-Barrow syndrome	2
Imerslund-Grasbeck Syndrome +	12
hemoglobinuria +	6
nephrosis +	277

paths to the root